Turner Syndrome - A Medical Dictionary, Bibliography, and Annotated Research Guide to Internet References

TURNER SYNDROME A M EDICAL D ICTIONARY , B IBLIOGRAPHY , AND A NNOTATED R ESEARCH G UIDE TO I NTERNET R E FERENCES J A...

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TURNER

SYNDROME A M EDICAL D ICTIONARY , B IBLIOGRAPHY , AND A NNOTATED R ESEARCH G UIDE TO I NTERNET R E FERENCES

J AMES N. P ARKER , M.D. AND P HILIP M. P ARKER , P H .D., E DITORS

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ICON Health Publications ICON Group International, Inc. 4370 La Jolla Village Drive, 4th Floor San Diego, CA 92122 USA Copyright 2004 by ICON Group International, Inc. Copyright 2004 by ICON Group International, Inc. All rights reserved. This book is protected by copyright. No part of it may be reproduced, stored in a retrieval system, or transmitted in any form or by any means, electronic, mechanical, photocopying, recording, or otherwise, without written permission from the publisher. Printed in the United States of America. Last digit indicates print number: 10 9 8 7 6 4 5 3 2 1

Publisher, Health Care: Philip Parker, Ph.D. Editor(s): James Parker, M.D., Philip Parker, Ph.D. Publisher's note: The ideas, procedures, and suggestions contained in this book are not intended for the diagnosis or treatment of a health problem. As new medical or scientific information becomes available from academic and clinical research, recommended treatments and drug therapies may undergo changes. The authors, editors, and publisher have attempted to make the information in this book up to date and accurate in accord with accepted standards at the time of publication. The authors, editors, and publisher are not responsible for errors or omissions or for consequences from application of the book, and make no warranty, expressed or implied, in regard to the contents of this book. Any practice described in this book should be applied by the reader in accordance with professional standards of care used in regard to the unique circumstances that may apply in each situation. The reader is advised to always check product information (package inserts) for changes and new information regarding dosage and contraindications before prescribing any drug or pharmacological product. Caution is especially urged when using new or infrequently ordered drugs, herbal remedies, vitamins and supplements, alternative therapies, complementary therapies and medicines, and integrative medical treatments. Cataloging-in-Publication Data Parker, James N., 1961Parker, Philip M., 1960Turner Syndrome: A Medical Dictionary, Bibliography, and Annotated Research Guide to Internet References / James N. Parker and Philip M. Parker, editors p. cm. Includes bibliographical references, glossary, and index. ISBN: 0-597-84107-1 1. Turner Syndrome-Popular works. I. Title.

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Disclaimer This publication is not intended to be used for the diagnosis or treatment of a health problem. It is sold with the understanding that the publisher, editors, and authors are not engaging in the rendering of medical, psychological, financial, legal, or other professional services. References to any entity, product, service, or source of information that may be contained in this publication should not be considered an endorsement, either direct or implied, by the publisher, editors, or authors. ICON Group International, Inc., the editors, and the authors are not responsible for the content of any Web pages or publications referenced in this publication.

Copyright Notice If a physician wishes to copy limited passages from this book for patient use, this right is automatically granted without written permission from ICON Group International, Inc. (ICON Group). However, all of ICON Group publications have copyrights. With exception to the above, copying our publications in whole or in part, for whatever reason, is a violation of copyright laws and can lead to penalties and fines. Should you want to copy tables, graphs, or other materials, please contact us to request permission (E-mail: [email protected]). ICON Group often grants permission for very limited reproduction of our publications for internal use, press releases, and academic research. Such reproduction requires confirmed permission from ICON Group International Inc. The disclaimer above must accompany all reproductions, in whole or in part, of this book.

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Acknowledgements The collective knowledge generated from academic and applied research summarized in various references has been critical in the creation of this book which is best viewed as a comprehensive compilation and collection of information prepared by various official agencies which produce publications on Turner syndrome. Books in this series draw from various agencies and institutions associated with the United States Department of Health and Human Services, and in particular, the Office of the Secretary of Health and Human Services (OS), the Administration for Children and Families (ACF), the Administration on Aging (AOA), the Agency for Healthcare Research and Quality (AHRQ), the Agency for Toxic Substances and Disease Registry (ATSDR), the Centers for Disease Control and Prevention (CDC), the Food and Drug Administration (FDA), the Healthcare Financing Administration (HCFA), the Health Resources and Services Administration (HRSA), the Indian Health Service (IHS), the institutions of the National Institutes of Health (NIH), the Program Support Center (PSC), and the Substance Abuse and Mental Health Services Administration (SAMHSA). In addition to these sources, information gathered from the National Library of Medicine, the United States Patent Office, the European Union, and their related organizations has been invaluable in the creation of this book. Some of the work represented was financially supported by the Research and Development Committee at INSEAD. This support is gratefully acknowledged. Finally, special thanks are owed to Tiffany Freeman for her excellent editorial support.

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About the Editors James N. Parker, M.D. Dr. James N. Parker received his Bachelor of Science degree in Psychobiology from the University of California, Riverside and his M.D. from the University of California, San Diego. In addition to authoring numerous research publications, he has lectured at various academic institutions. Dr. Parker is the medical editor for health books by ICON Health Publications. Philip M. Parker, Ph.D. Philip M. Parker is the Eli Lilly Chair Professor of Innovation, Business and Society at INSEAD (Fontainebleau, France and Singapore). Dr. Parker has also been Professor at the University of California, San Diego and has taught courses at Harvard University, the Hong Kong University of Science and Technology, the Massachusetts Institute of Technology, Stanford University, and UCLA. Dr. Parker is the associate editor for ICON Health Publications.

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About ICON Health Publications To discover more about ICON Health Publications, simply check with your preferred online booksellers, including Barnes&Noble.com and Amazon.com which currently carry all of our titles. Or, feel free to contact us directly for bulk purchases or institutional discounts: ICON Group International, Inc. 4370 La Jolla Village Drive, Fourth Floor San Diego, CA 92122 USA Fax: 858-546-4341 Web site: www.icongrouponline.com/health

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Table of Contents FORWARD .......................................................................................................................................... 1 CHAPTER 1. STUDIES ON TURNER SYNDROME ................................................................................. 3 Overview........................................................................................................................................ 3 The Combined Health Information Database................................................................................. 3 Federally Funded Research on Turner Syndrome.......................................................................... 5 The National Library of Medicine: PubMed ................................................................................ 12 CHAPTER 2. NUTRITION AND TURNER SYNDROME ....................................................................... 57 Overview...................................................................................................................................... 57 Finding Nutrition Studies on Turner Syndrome ........................................................................ 57 Federal Resources on Nutrition ................................................................................................... 65 Additional Web Resources ........................................................................................................... 65 CHAPTER 3. ALTERNATIVE MEDICINE AND TURNER SYNDROME ................................................. 67 Overview...................................................................................................................................... 67 National Center for Complementary and Alternative Medicine.................................................. 67 Additional Web Resources ........................................................................................................... 69 General References ....................................................................................................................... 69 CHAPTER 4. DISSERTATIONS ON TURNER SYNDROME ................................................................... 71 Overview...................................................................................................................................... 71 Dissertations on Turner Syndrome ............................................................................................. 71 Keeping Current .......................................................................................................................... 72 CHAPTER 5. CLINICAL TRIALS AND TURNER SYNDROME .............................................................. 73 Overview...................................................................................................................................... 73 Recent Trials on Turner Syndrome ............................................................................................. 73 Keeping Current on Clinical Trials ............................................................................................. 77 CHAPTER 6. BOOKS ON TURNER SYNDROME ................................................................................. 79 Overview...................................................................................................................................... 79 Book Summaries: Federal Agencies.............................................................................................. 79 Book Summaries: Online Booksellers........................................................................................... 80 The National Library of Medicine Book Index ............................................................................. 81 Chapters on Turner Syndrome .................................................................................................... 81 CHAPTER 7. MULTIMEDIA ON TURNER SYNDROME ....................................................................... 83 Overview...................................................................................................................................... 83 Bibliography: Multimedia on Turner Syndrome ......................................................................... 83 CHAPTER 8. PERIODICALS AND NEWS ON TURNER SYNDROME .................................................... 85 Overview...................................................................................................................................... 85 News Services and Press Releases................................................................................................ 85 Academic Periodicals covering Turner Syndrome ....................................................................... 87 CHAPTER 9. RESEARCHING MEDICATIONS .................................................................................... 89 Overview...................................................................................................................................... 89 U.S. Pharmacopeia....................................................................................................................... 89 Commercial Databases ................................................................................................................. 90 APPENDIX A. PHYSICIAN RESOURCES ............................................................................................ 93 Overview...................................................................................................................................... 93 NIH Guidelines............................................................................................................................ 93 NIH Databases............................................................................................................................. 95 Other Commercial Databases....................................................................................................... 97 The Genome Project and Turner Syndrome................................................................................. 97 APPENDIX B. PATIENT RESOURCES ............................................................................................... 101 Overview.................................................................................................................................... 101 Patient Guideline Sources.......................................................................................................... 101 Associations and Turner Syndrome........................................................................................... 104

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Finding Associations.................................................................................................................. 105 APPENDIX C. FINDING MEDICAL LIBRARIES ................................................................................ 107 Overview.................................................................................................................................... 107 Preparation................................................................................................................................. 107 Finding a Local Medical Library................................................................................................ 107 Medical Libraries in the U.S. and Canada ................................................................................. 107 ONLINE GLOSSARIES................................................................................................................ 113 Online Dictionary Directories ................................................................................................... 114 TURNER SYNDROME DICTIONARY..................................................................................... 117 INDEX .............................................................................................................................................. 153

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FORWARD In March 2001, the National Institutes of Health issued the following warning: "The number of Web sites offering health-related resources grows every day. Many sites provide valuable information, while others may have information that is unreliable or misleading."1 Furthermore, because of the rapid increase in Internet-based information, many hours can be wasted searching, selecting, and printing. Since only the smallest fraction of information dealing with Turner syndrome is indexed in search engines, such as www.google.com or others, a non-systematic approach to Internet research can be not only time consuming, but also incomplete. This book was created for medical professionals, students, and members of the general public who want to know as much as possible about Turner syndrome, using the most advanced research tools available and spending the least amount of time doing so. In addition to offering a structured and comprehensive bibliography, the pages that follow will tell you where and how to find reliable information covering virtually all topics related to Turner syndrome, from the essentials to the most advanced areas of research. Public, academic, government, and peer-reviewed research studies are emphasized. Various abstracts are reproduced to give you some of the latest official information available to date on Turner syndrome. Abundant guidance is given on how to obtain free-of-charge primary research results via the Internet. While this book focuses on the field of medicine, when some sources provide access to non-medical information relating to Turner syndrome, these are noted in the text. E-book and electronic versions of this book are fully interactive with each of the Internet sites mentioned (clicking on a hyperlink automatically opens your browser to the site indicated). If you are using the hard copy version of this book, you can access a cited Web site by typing the provided Web address directly into your Internet browser. You may find it useful to refer to synonyms or related terms when accessing these Internet databases. NOTE: At the time of publication, the Web addresses were functional. However, some links may fail due to URL address changes, which is a common occurrence on the Internet. For readers unfamiliar with the Internet, detailed instructions are offered on how to access electronic resources. For readers unfamiliar with medical terminology, a comprehensive glossary is provided. For readers without access to Internet resources, a directory of medical libraries, that have or can locate references cited here, is given. We hope these resources will prove useful to the widest possible audience seeking information on Turner syndrome. The Editors

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From the NIH, National Cancer Institute (NCI): http://www.cancer.gov/cancerinfo/ten-things-to-know.

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CHAPTER 1. STUDIES ON TURNER SYNDROME Overview In this chapter, we will show you how to locate peer-reviewed references and studies on Turner syndrome.

The Combined Health Information Database The Combined Health Information Database summarizes studies across numerous federal agencies. To limit your investigation to research studies and Turner syndrome, you will need to use the advanced search options. First, go to http://chid.nih.gov/index.html. From there, select the “Detailed Search” option (or go directly to that page with the following hyperlink: http://chid.nih.gov/detail/detail.html). The trick in extracting studies is found in the drop boxes at the bottom of the search page where “You may refine your search by.” Select the dates and language you prefer, and the format option “Journal Article.” At the top of the search form, select the number of records you would like to see (we recommend 100) and check the box to display “whole records.” We recommend that you type “Turner syndrome” (or synonyms) into the “For these words:” box. Consider using the option “anywhere in record” to make your search as broad as possible. If you want to limit the search to only a particular field, such as the title of the journal, then select this option in the “Search in these fields” drop box. The following is what you can expect from this type of search: •

Orthodontic Treatment for Patient with Turner Syndrome Source: American Journal of Orthodontics and Dentofacial Orthopedics. 120(3): 314-322. September 2001. Contact: Available from Harcourt Health Sciences. Subscription Customer Service, 6277 Sea Harbor Drive, Orlando, FL 32887-4800. (800) 654-2452. Fax (407) 363-9661. E-mail: [email protected]. Website: www.harcourthealth.com. Summary: The rate and the timing of growth, the development of the craniofacial structures, and the somatic and dental morphology unique to Turner syndrome significantly influence orthodontic treatment. This article features a case report that reviews the distinctive characteristics of Turner syndrome and illustrates how these

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characteristics influenced the orthodontic treatment of a 17 year old patient with Turner syndrome. Modifications that might be required to orthodontic treatment plans include antibiotic prophylaxis, occlusal adjustments to account for altered dental morphology (shape), altered treatment timing because of major differences in growth and differences between chronological and skeletal ages, and growth hormone therapy. Orthodontists are encouraged to understand the characteristics of Turner syndrome and to modify the patient's treatment plan accordingly. The case report includes photographs and radiographs pretreatment and post orthodontic treatment. 10 figures. 1 table. 30 references. •

Otological and Audiological Aspects in Turner Syndrome Source: Journal of Audiological Medicine. 6(3): 147-159. 1997. Summary: This article reports on a study in which the ear and auditory function were investigated in 62 subjects with Turner syndrome. Turner syndrome is a pathological condition caused by numerical or structural abnormalities of the X chromosome, resulting in dysgenesis (defective development) of the ovaries, sexual infantilism, short stature (height), webbing of the neck, mandibular (jaw) hypoplasia, cubitus valgus (deformity of the elbow), cardiac (heart) and renal (kidney) malformations, and other minor abnormalities. The most frequent abnormality of the external ear found in this study was low setting of the auricles. Thirty patients were affected by chronic or recurrent middle-ear infection or by the sequelae of middle ear disease, with a consequent conductive hearing loss in 16 cases. In two subjects, a conductive hearing loss was attributed to a typano-ossicular malformation. Bilaterally symmetrical sensorineural hearing loss (SNHL) was found in 13 cases. Nine cases showed a progressive hearing loss towards the high frequencies. Four showed a dip in the middle frequency range. The hearing impairment was of cochlear type in eight cases, and of retrocochlear in five. The occurrence of SNHL was correlated with the 45, X karyotype. Turner girls and their parents must be adequately informed about the importance of an early otological and audiological evaluation and follow up. 5 tables. 23 references. (AAM).

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Turner Syndrome Source: Quintessence International. 32(9): 748. October 2001. Contact: Available from Quintessence Publishing Co, Inc. 551 Kimberly Drive, Carol Stream, IL 60188-9981. (800) 621-0387 or (630) 682-3223. Fax (630) 682-3288. E-mail: [email protected]. Website: www.quintpub.com. Summary: This fact sheet reviews Turner syndrome, a genetic disorder in females characterized by various physical abnormalities including short stature and gonadal dysgenesis (malformed ovaries). The fact sheet covers etiology (cause) and epidemiology, clinical presentation, radiographic appearance of the dentition, differential diagnosis, and treatment options for patients with Turner syndrome. Clinically, patients may appear completely normal except for short stature; intelligence is normal. The craniofacial morphology (shape) may also show some alterations. The cranial base is flattened, the jaws are more posteriorly positioned, and a retrognathic (receding jaw) facial type is commonly observed. There is a high prevalence of lateral crossbite. Plaque and gingival (gum) indices are often higher. Patients with Turner syndrome have been successfully treated with growth hormone to yield normal stature. Craniofacial growth anomalies present in Turner syndrome require early diagnosis for timely interventional orthodontic and dental treatment. This fact sheet is one in a series

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designed to familiarize oral health care providers with a variety of less known diseases and disorders. 6 references. •

Communication Problems in Turner Syndrome: A Sample Survey Source: Journal of Communication Disorders. 32(6): 435-446. November-December 1999. Contact: Available from Elsevier Science. Customer Support Department, P.O. Box 945, New York, NY 10159-0945. (888) 437-4636 or (212) 633-3730. Fax (212) 633-3680. E-mail: [email protected]. Summary: Turner syndrome is a genetic condition in females characterized by a short stature, ovarian dysgenesis (lack of ovaries), neck webbing, congenital peripheral lymphedema, coarction of the aorta, dysplastic nails, and pigmented nevi. In addition, psychosocial difficulties, including communication disorders may occur. This article reports on a communications study of a sample survey in 128 girls with Turner syndrome. The girls ranged in age from 2.4 to 58.8 years. The authors present results on the occurrence and nature of speech and language problems (voice disorders, articulation problems, stuttering, and delayed language development), on the presence of learning disabilities, and on educational history. Almost one quarter of the subjects interviewed were receiving or had received treatment for stuttering, articulation problems, or delayed language development; this compares to an incidence of approximately 10 percent in the general population of U.S. children. Another finding of the present study is that the possible voice changes as a result of growth hormone treatment do not seem to be a genuine problem. The article concludes with a self test of continuing education questions. 1 table. 36 references.

Federally Funded Research on Turner Syndrome The U.S. Government supports a variety of research studies relating to Turner syndrome. These studies are tracked by the Office of Extramural Research at the National Institutes of Health.2 CRISP (Computerized Retrieval of Information on Scientific Projects) is a searchable database of federally funded biomedical research projects conducted at universities, hospitals, and other institutions. Search the CRISP Web site at http://crisp.cit.nih.gov/crisp/crisp_query.generate_screen. You will have the option to perform targeted searches by various criteria, including geography, date, and topics related to Turner syndrome. For most of the studies, the agencies reporting into CRISP provide summaries or abstracts. As opposed to clinical trial research using patients, many federally funded studies use animals or simulated models to explore Turner syndrome. The following is typical of the type of information found when searching the CRISP database for Turner syndrome:

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Healthcare projects are funded by the National Institutes of Health (NIH), Substance Abuse and Mental Health Services (SAMHSA), Health Resources and Services Administration (HRSA), Food and Drug Administration (FDA), Centers for Disease Control and Prevention (CDCP), Agency for Healthcare Research and Quality (AHRQ), and Office of Assistant Secretary of Health (OASH).

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Project Title: ANALYSIS OF MEIOTIC CHROMOSOME SYNAPSIS IN YEAST Principal Investigator & Institution: Hollingsworth, Nancy M.; Associate Professor; Biochemistry and Cell Biology; State University New York Stony Brook Stony Brook, Ny 11794 Timing: Fiscal Year 2001; Project Start 01-JAN-1995; Project End 31-JAN-2004 Summary: Meiosis is a fundamental process that sexually reproducing organisms undergo in order to reduce by half the chromosome number in germ cells. When meiosis fails, chromosomally imbalanced gametes result. In mammals the zygotes generated by fertilization of such chromosomally imbalanced gametes are inviable and account for a large number of spontaneous abortions. In cases where viable offspring are produced, mental and morphological defects such as those seen for Trisomy 21 or Turner syndrome (XO) are observed. Understanding how the meiotic process works to accurately segregate homologous chromosomes may ultimately provide the knowledge needed to monitor and prevent failures of this process. Proper segregation of homologs at Meiosis I requires that they first become physically associated by formation of a multi-protein structure called the synaptonemal complex (SC). The SC is formed by condensation of replicated pairs of sister chromatids along protein cores called axial elements (AEs) that are then synapsed by the insertion of a central region. Genetic studies in yeast have demonstrated that AEs are important for generating and packaging crossovers so that they ensure proper disjunction. Three key meiosis-specific components of yeast AEs are HOP1, RED1 and MEK1. Genetic experiments suggest that a balance between Hop1p/Red1p complexes and Red1p homo-oligomers is important for AE function and that this stoichiometry is regulated by the Mek1p kinase. The focus of this grant is to understand how AEs function in yeast by defining the specific roles of HOP1, RED1, and MEK1 during meiosis. Towards this end, a novel screen designed to isolate separation of function mutants in RED1 has been developed. This screen has already been successful in discovering an allele of RED1 that is specifically defective in binding to Hop1p. This mutant provides a useful tool to determine which meiotic processes require Red1p/Hop1 heterooligomers. Similar separation of function mutants will be sought in HOP1 and complementary experiments performed. The hypothesis that Hop1p homo-oligomers have a RED1-independent function in binding near the ends of meiotic double strand breaks will be tested using the chromatin immunoprecipitation technique. To understand how AE assembly is regulated, genetic and biochemical approaches will be used to identify the kinase responsible for activating Mek1p by phosphorylation of a conserved threonine. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen

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Project Title: ANDROGEN EFFECTS ON COGNITION IN TURNER SYNDROME Principal Investigator & Institution: Ross, Judith L.; Professor; Pediatrics; Thomas Jefferson University Office of Research Administration Philadelphia, Pa 191075587 Timing: Fiscal Year 2001; Project Start 01-JAN-1994; Project End 31-DEC-2003 Summary: Estrogen and androgen appear to influence brain function in females at puberty. Environmental and cultural factors interact with the biological effects of estrogen and androgen on the brain and consequently on cognition and behavior. Women with Turner syndrome have dysgenetic ovaries that do not produce estrogen or androgen, before or at puberty. Therefore, Turner syndrome represents a unique, sex hormone-deficient, model in which to study the biological effects of androgen on cognition and behavior. This proposal is a continuation, expansion, and enhancement of the previously funded study of the effect of androgen on adolescent cognition and

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behavior. Study groups include (1) two Turner syndrome groups (ages 10-14): (A) androgen and (B) no androgen and (2) an age-matched, normal female control group. In this competitive renewal submission, we propose to extend the original longitudinal design by following each subject for a total of 4 years of androgen (or placebo) treatment. The specific aims of this project are to: 1) examine the effects of 4 years of androgen treatment of cognition and psychological adjustment in growth hormonetreated girls with Turner syndrome and 2) document the differences and similarities in cognitive and behavioral function between adolescent Turner syndrome girls (treated or not treated with androgen) and age- and VIQ-matched normal girls, followed longitudinally for 4 years. Specifically, we hypothesize that: (1) Girls treated with androgen will perform better on tests of visual spatial ability and visual-motor ability (hypothesized in initial proposal), and attention (new hypothesis), compared to the girls not treated with androgen, (2) The androgen treatment effects on tests of visual-spatial, visual-motor ability, and attention will incrementally increase after 1,2,3, and 4 years' treatment, resulting in fewer differences in these areas between Turner syndrome and control girls after 4 years, and (3) girls with Turner syndrome treated with androgen will not perform differently on tests of social function, mood, motor function, or processing speed (verbal and non-verbal), compared to girls with Turner syndrome not treated with androgen. This proposed continuing investigation of adolescent cognitive and social development represents an important step in understanding normal brain development. In addition, these data will help determine how to optimize cognitive function in Turner syndrome, and will extend knowledge of the mechanisms of male/female cognitive dimorphisms. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen •

Project Title: COGNITIVE AND GENETIC CORRELATES OF EARLY MATH SKILLS Principal Investigator & Institution: Mazzocco, Michele M.; Associate Professor; Kennedy Krieger Research Institute, Inc. Baltimore, Md 21205 Timing: Fiscal Year 2002; Project Start 01-AUG-1997; Project End 31-MAR-2007 Summary: (provided by applicant): The proposed research is an extension and expansion of our prospective, longitudinal study of math skills -development in primary school age children. The broad, long-term objectives of this project are to contribute toward understanding math ability, math disability (MD), and MD subtypes. Towards these objectives, the following specific aims are proposed: (1) To examine the stability of math skills in children with or without MD, from grades K to 5. Of interest is whether distinct profiles corresponding to Visuospatial, Semantic Memory, and Procedural MD subtypes proposed by Geary (1993) persist over time; (2) To address whether MD emerges in some students beyond grade 2, and if so, if it persists over time and is linked to a specific MD subtype; (3) To evaluate cognitive and behavioral correlates, including attentional components, of concurrent and later math performance; (4) To examine how children with fragile X or Turner syndrome serve as potential models of MD subtypes, in view of their risk for poor math achievement; and (5) to identify molecular-clinical correlates in children with fragile X or Turner syndrome. The health-relatedness of the project is its contribution to defining and identifying MD, and to finding correlates and possible core cognitive deficits of MD. Enhanced awareness of core deficits and MD subtypes will guide identification and intervention of MD. The research design involves the study of various groups at risk for MD, and of normally achieving children. The methods include: 1) continued testing of a school-based sample of 220 children (110 boys, 110 girls) through grade 5, to examine stability of math

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achievement and early predictors of MD in elementary school; 2) recruitment of 44 additional children with MD, to increase sample size for MD versus Non-MD group comparisons; and 3) testing a sample of children with fragile X or Turner syndrome, two groups at risk for poor math achievement, inclusion of normative and genetic models of MD will provide a unique perspective from which to examine the trajectory and normal variation in the development of MD and MD subtypes. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen •

Project Title: FUNCTIONAL NEUROIMAGING IN TURNER SYNDROME Principal Investigator & Institution: Belger, Aysenil; Psychiatry; University of North Carolina Chapel Hill Office of Sponsored Research Chapel Hill, Nc 27599 Timing: Fiscal Year 2002; Project Start 15-FEB-2002; Project End 31-JAN-2004 Summary: (provided by applicant): The major goal of the proposed research is to examine the neurobiological correlates of visuospatial processing deficits in Turner syndrome (TS) using functional magnetic resonance imaging (fMRI). TS is a neurodevelopmental syndrome with a homogeneous etiology, and provides a model for the study of brain-behavior relationships. Recent studies have suggested that individuals with TS show significant deficits in visuospatial information processing but not verbal information processing. Furthermore, these domain-specific visuospatial information processing deficits may be secondary to more central working memory problems in this syndrome. Although the cognitive deficits have been well documented to date, the neural circuitry underlying these deficits have not been characterized. Specifically, there have been no published fMRI studies of TS. In the current project the investigators will use fMRI to examine the neural circuits underlying visuospatial impairments in subjects with TS, with a particular focus on working memory. This project capitalizes on the availability of a large sample of individuals with TS, and the expertise of the investigators in conducting fMRI studies. Specific Aim 1 is to use functional magnetic resonance imaging to identify the cortical circuits activated by verbal and nonverbal working memory. The investigators will image 15 control subjects and 15 individuals with TS using a modified version of the working memory tasks developed by Belger et al. Specific Aim 2 is to characterize the neurocognitive functioning of the individuals with this disorder, in particular to explore the hypothesis of domain-specific deficits. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen

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Project Title: GENETICS OF TURNER SYNDROME--COGNITIVE/PHYSICAL ASPECTS Principal Investigator & Institution: Zinn, Andrew R.; Assistant Professor of Internal Medicine; Internal Medicine; University of Texas Sw Med Ctr/Dallas Dallas, Tx 753909105 Timing: Fiscal Year 2001; Project Start 01-MAR-1997; Project End 31-JUL-2002 Summary: Turner syndrome is a human genetic disorder involving females who lack all or part of one X chromosome. The principle features are short stature, infertility, and anatomic abnormalities that include webbed neck, congenital heart disease, and renal and skeletal malformations. Selected neurocognitive deficits, including impaired visualspatial abilities, are also characteristic of Turner syndrome, but global developmental delay is uncommon. As a relatively common genetic disorder with well-defined manifestations, Turner syndrome presents the opportunity to investigate genetic factors that influence female physical and cognitive development There is potentially

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informative genetic and phenotypic variation among Turner syndrome subjects with partial X deletions (partial monosomy X). Careful clinical and molecular characterization of these unusual subjects who represent "experiments of nature" could link individual Turner syndrome phenotypic features to specific X chromosome regions. Similar studies are in progress for Down syndrome and other chromosome disorders. Turner syndrome is an excellent model for such phenotype mapping studies because of its prevalence, the well-characterized phenotype, and the wealth of molecular resources available for the X chromosome. The disorder is also a model for studying genetic aspects of cognition because of the selective nature of neurocognitive deficits and the relative sparing of verbal abilities. This study will examine approximately 80 partial monosomy X subjects. Each subject will have a thorough clinical evaluation and extensive neurocognitive testing to determine the presence or absence of specific Turner syndrome phenotypic features. Cell lines will be established and used for molecular studies to precisely define the subjects' X deletions. The goal of this study is to define critical regions of the X chromosome for neurocognitive deficits and physical features associated with Turner syndrome. Phenotype mapping of X deletions will be helpful for genetic counseling and for predicting which girls with Turner syndrome are at high risk for learning difficulties; these children and their parents might benefit from extra social, psychological, and educational support. The collection of cell lines will also provide a valuable resource for future studies aimed at identifying specific Turner syndrome genes. Characterization of these genes would provide insight into the pathophysiology of Turner syndrome as well as processes of normal physical and cognitive development. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen •

Project Title: MOUSE X-CHROMOSOME INACTIVATION Principal Investigator & Institution: Disteche, Christine M.; Professor; Pathology; University of Washington Grant & Contract Services Seattle, Wa 98105 Timing: Fiscal Year 2001; Project Start 01-AUG-1992; Project End 31-JUL-2004 Summary: (Adapted from the Investigator's Abstract): The study is aimed at defining evolutionary pathways of the sex chromosomes in mouse and human and at understanding mechanisms of gene regulation specifically related to evolutionary features of the sex chromosomes. Evolution of the mammalian sex chromosomes is characterized by degeneration of the Y chromosome, once sex was determined by a gene on the Y chromosome and recombination was inhibited. Complex regulation of X-and Y-gene expression evolved to accommodate dramatic differences in gene content between the sex chromosomes. X inactivation, which is likely to constitute a hierarchy of control mechanisms, evolved in females to restore equal expression between males and females. Along with X inactivation, upregulation of genes on the single active X chromosome evolved to restore balance of expression with disomic autosomal genes. X/Y gene pairs with functional Y genes and X genes that escape from X inactivation have persisted but differ between species, providing evidence of the evolutionary pathways of genes on the sex chromosomes. The investigators plan: (Aim 1) to systematically compare compensation by expression of Y partners of X/Y gene pairs in males and by escape from X inactivation in females. Such compensation is important since individuals with a single X chromosome have Turner syndrome, likely because of haploinsufficiency of X/Y genes. Expression from the Y gene and the inactive X gene could vary between species, tissues or cell types, modifying the impact of haploinsufficiency. Thus, the investigators will measure expression of X/Y genes in mouse and human individual cells and tissues and during mouse development; (Aim 2) to follow and manipulate epigenetic changes in relation to X/Y gene expression and

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escape from X inactivation. Stochastic loss of such controls during development may result in reactivation, as suggested by the investigators' previous studies. They will follow DNA methylation and association with histone acetylation of X/Y genes during female and male mouse development. DNA methylation and histone acetylation will be modified in cell lines to investigate the hierarchy of expression controls; (Aim 3) to perform large scale genomic sequencing around the CLC4 genes and compare activity of the promoters in two mouse species which either have an X-linked copy of the gene or an autosomal copy. The doubling of CLC4 expression on the single active X chromosome that they previously discovered, may result from adaptive evolutionary changes to maintain balance with autosomal gene dosage or represent a process of active X upregulation. By inserting CLC4 into an autosome and into the X chromosome in transgenic mice, they will recapitulate the evolutionary chromosomal rearrangement. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen •

Project Title: NEUROPSYCHIATRY OF FRAGILE X AND OTHER GENETIC DISORDERS Principal Investigator & Institution: Reiss, Allan L.; Professor; Psychiatry and Behavioral Sci; Stanford University Stanford, Ca 94305 Timing: Fiscal Year 2001; Project Start 01-FEB-1994; Project End 31-MAR-2004 Summary: Research on behaviorally defined childhood neuropsychiatric disorders such as autism and ADHD suggests that the elucidation of underlying genetic, neurobiological and environmental factors may be impeded by the etiological heterogeneity of individuals meeting current diagnostic criteria. Accordingly, child and adolescent psychiatry is in great need of biological markers and new methodology to improve our understanding of etiologically meaningful subgroups and the pathophysiology of childhood onset mental health disorders. In response to this challenge, an innovative research strategy was developed and promoted by the Candidate during the first five years of this Independent Research Award. This research strategy focuses on the multi-level scientific study of individuals with known or suspected homogenous genetic etiology for neuropsychiatric, cognitive and developmental dysfunction. The term "behavioral neurogenetics" was coined by the Candidate to represent this methodology. In this application, three primary objectives are described: (1) To apply behavioral neurogenetics research methods to specific pediatric disorders such as fragile X syndrome, Turner syndrome and velo-cardio- facial syndrome. Data will be obtained from genetic analyses, neuroimaging studies, assessment of neuroendocrinological status, neurobehavioral assessment, and environmental analysis; (2) To enhance the Candidate's repertoire of research-related skills and knowledge in specific areas including functional neuroimaging and the investigation of new groups of children with genetic etiologies for neuropsychiatric disability; and (3) To significantly increase the scope and rigor of pediatric mental health research training and clinical research at Stanford University. The information gained from this work will contribute to our fundamental knowledge of linkages among gene, environment, brain, and behavior in specific neurogenetic conditions, and increase our understanding of the pathogenesis of mental disorders in children from the general population. It is anticipated that funding of this award will have an impact on science through facilitation of the Candidate s own research, and the overall pediatric mental health research enterprise that will be implemented at Stanford over the next five years. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen

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Project Title: ORTHODONTIC & RECONSTRUCTIVE SURGERY NEEDS IN TURNER SYNDROME PATIENTS ON GH Principal Investigator & Institution: Davenport, Marsha; University of North Carolina Chapel Hill Office of Sponsored Research Chapel Hill, Nc 27599 Timing: Fiscal Year 2001 Summary: This abstract is not available. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen

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Project Title: UNC MRDD RESEARCH CENTER Principal Investigator & Institution: Piven, Joseph; Professor; Psychiatry; University of North Carolina Chapel Hill Office of Sponsored Research Chapel Hill, Nc 27599 Timing: Fiscal Year 2003; Project Start 01-SEP-1977; Project End 30-JUN-2008 Summary: [provided by applicant]: The University of North Carolina Mental Retardation and Developmental Disabilities Research Center (MRDDRC) is an integrated, multidisciplinary program to support and promote research relevant to understanding the pathogenesis and treatment/prevention of neurodevelopmental disorders. The University of North Carolina MRDDRC is the focal point for research and research training relevant to mental retardation and developmental disabilities on the University of North Carolina campus. This Center currently supports 40 investigators and 76 research projects (72 PHS) covering 32 of the 33 areas listed in the RFA for MRDD Research Centers, and representing a substantial increase over the last application. This broad-based research program is well integrated around an expanded portfolio of bio-behavioral research projects on neurodevelopmental disorders such as autism, fragile X syndrome, neurofibromatosis and Turner syndrome, highlighted by the recent funding of an NIH Studies to Advance Autism Research and Treatment (STAART) Center. This expansion of bio-behavioral studies serves to integrate longstanding programs in basic biological and behavioral research relevant to mental retardation and developmental disabilities. Over the last five-year granting period the University of North Carolina MRDDRC has made substantial progress including (1) appointment of a new Director; (2) establishment of the MRDDRC within a new, independent University Center, "The University of North Carolina Neurodevelopmental Disorders Research Center (NDRC)", with a mission fully consistent with that of the MRDDRC, (3) expansion of focus on bio-behavioral research and the integration of basic biological and behavioral studies; (4) establishment of an NIH (T32) Postdoctoral Research Training Program in Neurodevelopmental Disorders; and, (5) development of four new (proposed) research cores including The Developmental Neuroimaging Core (human in vivo neuroimaging and multiphoton/confocal microscopy), The Behavior Measurement Core (supporting both mouse behavioral phenotyping and specialized consultation on the measurement of selected human behaviors); the Microarray Gene Expression Core; and, the Subject Registry Core. Substantial modifications are also proposed for the Data Management and Statistical Analysis Core. These five research cores provide cutting-edge, high-quality and cost-effective support to this integrated, multidisciplinary program of MRDD research. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen

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The National Library of Medicine: PubMed One of the quickest and most comprehensive ways to find academic studies in both English and other languages is to use PubMed, maintained by the National Library of Medicine.3 The advantage of PubMed over previously mentioned sources is that it covers a greater number of domestic and foreign references. It is also free to use. If the publisher has a Web site that offers full text of its journals, PubMed will provide links to that site, as well as to sites offering other related data. User registration, a subscription fee, or some other type of fee may be required to access the full text of articles in some journals. To generate your own bibliography of studies dealing with Turner syndrome, simply go to the PubMed Web site at http://www.ncbi.nlm.nih.gov/pubmed. Type “Turner syndrome” (or synonyms) into the search box, and click “Go.” The following is the type of output you can expect from PubMed for Turner syndrome (hyperlinks lead to article summaries): •

A case of 45,X Turner syndrome with spontaneous ovulation proven by ultrasonography. Author(s): Paoloni-Giacobino A, Dahoun SP, Sizonenko PC, Stalberg A, Chardonnens D, Campana A. Source: Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology. 2000 April; 14(2): 105-10. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10836197&dopt=Abstract

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A case of Turner syndrome with congenital hypothyroidism untreated until age 38 years. Author(s): Ishikawa N, Tanaka T, Hashimoto K, Wada M. Source: Hormone Research. 2003; 59(1): 50-4. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12566737&dopt=Abstract

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A characteristic cluster of fetal sonographic markers that are predictive of fetal Turner syndrome in early pregnancy. Author(s): Bronshtein M, Zimmer EZ, Blazer S. Source: American Journal of Obstetrics and Gynecology. 2003 April; 188(4): 1016-20. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12712103&dopt=Abstract

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A comparative study between infertile males and patients with Turner syndrome to determine the influence of sex chromosome mosaicism and the breakpoints of structurally abnormal Y chromosomes on phenotypic sex. Author(s): Quilter CR, Nathwani N, Conway GS, Stanhope R, Ralph D, Bahadur G, Serhal P, Taylor K, Delhanty JD. Source: Journal of Medical Genetics. 2002 December; 39(12): E80. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12471218&dopt=Abstract

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PubMed was developed by the National Center for Biotechnology Information (NCBI) at the National Library of Medicine (NLM) at the National Institutes of Health (NIH). The PubMed database was developed in conjunction with publishers of biomedical literature as a search tool for accessing literature citations and linking to full-text journal articles at Web sites of participating publishers. Publishers that participate in PubMed supply NLM with their citations electronically prior to or at the time of publication.

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A mutation in the 5' non-high mobility group box region of the SRY gene in patients with Turner syndrome and Y mosaicism. Author(s): Canto P, de la Chesnaye E, Lopez M, Cervantes A, Chavez B, Vilchis F, Reyes E, Ulloa-Aguirre A, Kofman-Alfaro S, Mendez JP. Source: The Journal of Clinical Endocrinology and Metabolism. 2000 May; 85(5): 1908-11. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10843173&dopt=Abstract

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A new case of Turner syndrome associated with multiple myeloma. Author(s): Caballe EL, Sole F, Besses C, Espinet B, Florensa L. Source: Cancer Genetics and Cytogenetics. 2000 February; 117(1): 80-1. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10700872&dopt=Abstract

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A review of neuropsychological and motor studies in Turner Syndrome. Author(s): Nijhuis-van der Sanden MW, Eling PA, Otten BJ. Source: Neuroscience and Biobehavioral Reviews. 2003 September; 27(4): 329-38. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12946685&dopt=Abstract

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A study of 45,X/46,XX mosaicism in Turner syndrome females: a novel primer pair for the (CAG)n repeat within the androgen receptor gene. Author(s): Leonova J, Hanson C. Source: Hereditas. 1999; 131(2): 87-92. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10680293&dopt=Abstract

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Abnormal prefrontal cortex function during response inhibition in Turner syndrome: functional magnetic resonance imaging evidence. Author(s): Tamm L, Menon V, Reiss AL. Source: Biological Psychiatry. 2003 January 15; 53(2): 107-11. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12547465&dopt=Abstract

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Acrocentric chromosome disomy is increased in spermatozoa from fathers of Turner syndrome patients. Author(s): Soares SR, Vidal F, Bosch M, Martinez-Pasarell O, Nogues C, Egozcue J, Templado C. Source: Human Genetics. 2001 June; 108(6): 499-503. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11499675&dopt=Abstract

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Adult height after GH therapy in 188 Ullrich-Turner syndrome patients: results of the German IGLU Follow-up Study 2001. Author(s): Ranke MB, Partsch CJ, Lindberg A, Dorr HG, Bettendorf M, Hauffa BP, Schwarz HP, Mehls O, Sander S, Stahnke N, Steinkamp H, Said E, Sippell W. Source: European Journal of Endocrinology / European Federation of Endocrine Societies. 2002 November; 147(5): 625-33. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12444894&dopt=Abstract

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Adulthood in women with Turner syndrome. Author(s): Ostberg JE, Conway GS. Source: Hormone Research. 2003; 59(5): 211-21. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12714784&dopt=Abstract

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Advances in laboratory evaluation of Turner syndrome and its variants: beyond cytogenetics studies. Author(s): Wolff DJ. Source: Indian J Pediatr. 2000 November; 67(11): 825-9. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11216383&dopt=Abstract

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Analysis of the SRY gene in Turner syndrome patients with Y chromosomal material. Author(s): Yorifuji T, Muroi J, Mamada M, Uematsu A, Kawai M, Momoi T, Kaji M, Yamanaka C, Nakahata T. Source: Journal of Medical Genetics. 2001 November; 38(11): E41. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11694555&dopt=Abstract

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Androgen-responsive aspects of cognition in girls with Turner syndrome. Author(s): Ross JL, Roeltgen D, Stefanatos GA, Feuillan P, Kushner H, Bondy C, Cutler Jr GB Jr. Source: The Journal of Clinical Endocrinology and Metabolism. 2003 January; 88(1): 2926. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12519868&dopt=Abstract

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Aortic dilatation in Turner Syndrome. Author(s): Gabbarini F, Cincinnati P. Source: International Journal of Cardiology. 2000 September 15; 75(2-3): 289-90. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11186961&dopt=Abstract

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Are you looking at me? Accuracy in processing line-of-sight in Turner syndrome. Author(s): Elgar K, Campbell R, Skuse D. Source: Proceedings of the Royal Society of London. Series B. Biological Sciences. 2002 December 7; 269(1508): 2415-22. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12495483&dopt=Abstract

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Aspects of the treatment of Turner syndrome. Author(s): Gravholt CH. Source: Expert Opinion on Pharmacotherapy. 2001 October; 2(10): 1633-47. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11825306&dopt=Abstract

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Asynchronous replication of biallelically expressed loci: a new phenomenon in Turner syndrome. Author(s): Reish O, Gal R, Gaber E, Sher C, Bistritzer T, Amiel A. Source: Genetics in Medicine : Official Journal of the American College of Medical Genetics. 2002 November-December; 4(6): 439-43. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12509715&dopt=Abstract

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Autoimmune thyroiditis in children with Turner syndrome. Author(s): Chang P, Tsai WY, Hou JW, Hsiao PH, Lee JS. Source: J Formos Med Assoc. 2000 November; 99(11): 823-6. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11155770&dopt=Abstract

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Balloon dilatation of native aortic coarctation in two patients with Turner syndrome. Author(s): Park Y, Sklansky MS, Shaughnessy RD, Kashani IA, Rothman A. Source: Pediatric Cardiology. 2000 September-October; 21(5): 474-6. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10982712&dopt=Abstract

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Behavioral characteristics of children with Turner syndrome and children with learning disabilities. Author(s): Williams JK. Source: Western Journal of Nursing Research. 1994 February; 16(1): 26-35; Discussion 359. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8128667&dopt=Abstract

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Behavioral phenotype in children with Turner syndrome. Author(s): Rovet J, Ireland L. Source: Journal of Pediatric Psychology. 1994 December; 19(6): 779-90. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7830217&dopt=Abstract

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Bilateral pleural effusion at 8.5 weeks' gestation with Down syndrome and Turner syndrome. Author(s): Cadkin A, Pergament E. Source: Prenatal Diagnosis. 1993 July; 13(7): 659-60. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8415430&dopt=Abstract

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Blood pressure and Turner syndrome. Author(s): Nathwani NC, Unwin R, Brook CG, Hindmarsh PC. Source: Clinical Endocrinology. 2000 March; 52(3): 363-70. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10718835&dopt=Abstract

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Blood pressure behaviour and control in Turner syndrome. Author(s): Virdis R, Cantu MC, Ghizzoni L, Ammenti A, Nori G, Volta C, Cravidi C, Vanelli M, Balestrazzi P, Bernasconi S, et al. Source: Clin Exp Hypertens A. 1986; 8(4-5): 787-91. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=3530553&dopt=Abstract

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Body mass index (BMI) in Turner Syndrome before and during growth hormone (GH) therapy. Author(s): Blackett PR, Rundle AC, Frane J, Blethen SL. Source: International Journal of Obesity and Related Metabolic Disorders : Journal of the International Association for the Study of Obesity. 2000 February; 24(2): 232-5. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10702776&dopt=Abstract

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Body proportions during long-term growth hormone treatment in girls with Turner syndrome participating in a randomized dose-response trial. Author(s): Sas TC, Gerver WJ, de Bruin R, Stijnen T, de Muinck Keizer-Schrama SM, Cole TJ, van Teunenbroek A, Drop SL. Source: The Journal of Clinical Endocrinology and Metabolism. 1999 December; 84(12): 4622-8. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10599729&dopt=Abstract

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Body proportions in individuals with Turner syndrome. The Dutch Growth Hormone Working Group. Author(s): Rongen-Westerlaken C, Rikken B, Vastrick P, Jeuken AH, de Lange MY, Wit JM, van der Tweel L, Van den Brande JL. Source: European Journal of Pediatrics. 1993 October; 152(10): 813-7. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8223783&dopt=Abstract

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Body weight in children with Turner syndrome treated with growth hormone. Author(s): Corel LJ, Van den Broeck J, Rongen-Westerlaken C, Massa G, Wit JM. Source: International Journal of Obesity and Related Metabolic Disorders : Journal of the International Association for the Study of Obesity. 1996 October; 20(10): 957-62. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8910102&dopt=Abstract

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Bone mineral density and fractures in Turner syndrome. Author(s): Bakalov VK, Chen ML, Baron J, Hanton LB, Reynolds JC, Stratakis CA, Axelrod LE, Bondy CA. Source: The American Journal of Medicine. 2003 September; 115(4): 259-64. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12967689&dopt=Abstract

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Bone mineral density in Turner syndrome: relation to GH treatment and estrogen treatment. Author(s): Sato N, Nimura A, Horikawa R, Katumata N, Tanae A, Tanaka T. Source: Endocrine Journal. 2000 March; 47 Suppl: S115-9. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10890198&dopt=Abstract

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Bone mineralization in Turner syndrome: a transverse study of the determinant factors in 58 patients. Author(s): Costa AM, Lemos-Marini SH, Baptista MT, Morcillo AM, Maciel-Guerra AT, Guerra G Jr. Source: Journal of Bone and Mineral Metabolism. 2002; 20(5): 294-7. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12203035&dopt=Abstract

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Brain development in Turner syndrome: a magnetic resonance imaging study. Author(s): Brown WE, Kesler SR, Eliez S, Warsofsky IS, Haberecht M, Patwardhan A, Ross JL, Neely EK, Zeng SM, Yankowitz J, Reiss AL. Source: Psychiatry Research. 2002 December 30; 116(3): 187-96. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12477602&dopt=Abstract

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Brief clinical report: not all cystic hygromas occur in the Ullrich-Turner syndrome. Author(s): Cowchock FS, Wapner RJ, Kurtz A, Chatzkel S, Barnhart JS Jr, Lesnick DC. Source: American Journal of Medical Genetics. 1982 July; 12(3): 327-31. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7114094&dopt=Abstract

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Carbohydrate and lipid metabolism during various growth hormone dosing regimens in girls with Turner syndrome. Dutch Working Group on Growth Hormone. Author(s): van Teunenbroek A, de Muinck Keizer-Schrama SM, Aanstoot HJ, Stijnen T, Hoogerbrugge N, Drop SL. Source: Metabolism: Clinical and Experimental. 1999 January; 48(1): 7-14. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9920138&dopt=Abstract

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Carbohydrate metabolism during growth hormone treatment and after discontinuation of growth hormone treatment in girls with Turner syndrome treated with once or twice daily growth hormone injections. Author(s): Sas T, de Muinck Keizer-Schrama S, Aanstoot HJ, Stijnen T, Drop S. Source: Clinical Endocrinology. 2000 June; 52(6): 741-7. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10848879&dopt=Abstract

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Carbohydrate metabolism during long-term growth hormone (GH) treatment and after discontinuation of GH treatment in girls with Turner syndrome participating in a randomized dose-response study. Dutch Advisory Group on Growth Hormone. Author(s): Sas TC, de Muinck Keizer-Schrama SM, Stijnen T, Aanstoot HJ, Drop SL. Source: The Journal of Clinical Endocrinology and Metabolism. 2000 February; 85(2): 769-75. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10690889&dopt=Abstract

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Cardiac malformations and hypertension, but not metabolic risk factors, are common in Turner syndrome. Author(s): Landin-Wilhelmsen K, Bryman I, Wilhelmsen L. Source: The Journal of Clinical Endocrinology and Metabolism. 2001 September; 86(9): 4166-70. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11549644&dopt=Abstract

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Celiac disease and HLA-DQ2 association in patients with Turner syndrome. Author(s): Doganci T, Caliskan L, Vidinlisan S. Source: Journal of Pediatric Gastroenterology and Nutrition. 2001 September; 33(3): 352. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11593140&dopt=Abstract

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Celiac disease and selective IgA deficiency in a girl with atypical Turner syndrome. Author(s): Schewior S, Brand M, Santer R. Source: Journal of Pediatric Gastroenterology and Nutrition. 1999 March; 28(3): 353-4. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10067750&dopt=Abstract

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Celiac disease and Turner syndrome. Author(s): Bonamico M. Source: Journal of Pediatric Gastroenterology and Nutrition. 1999 July; 29(1): 107-8. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10400119&dopt=Abstract

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Centromeric association of a microchromosome in a Turner syndrome patient with a pseudodicentric Y. Author(s): Rivera H, Dominguez MG, Vasquez AI, Ramos AL, Fragoso R. Source: Human Genetics. 1993 November; 92(5): 522-4. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8244347&dopt=Abstract

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Choosing an oestrogen replacement therapy in young adult women with Turner syndrome. Author(s): Guttmann H, Weiner Z, Nikolski E, Ish-Shalom S, Itskovitz-Eldor J, Aviram M, Reisner S, Hochberg Z. Source: Clinical Endocrinology. 2001 February; 54(2): 159-64. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11207629&dopt=Abstract

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Cleft lip and/or palate in two cases of 46,X,i(Xq) Turner syndrome. Author(s): Corona-Rivera JR, Corona-Rivera E, Bobadilla-Morales L, Garcia-Cobia TA, Corona-Rivera A. Source: Genet Couns. 2002; 13(1): 19-22. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12017233&dopt=Abstract

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Clinical images in oral medicine and maxillofacial radiology. Turner syndrome. Author(s): Yalcin S, Aybar B, Palanduz S, Haznedaroglu F, Tekin Yazar T, Emes Y, Terezhalmy GT, Riley CK, Moore WS. Source: Quintessence Int. 2001 October; 32(9): 748-9. No Abstract Available. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11695143&dopt=Abstract

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Coeliac disease and HLA-DQ 2 (DQA1* 0501 and DQB1* 0201) in patients with Turner syndrome. Author(s): Rujner J, Wisniewski A, Gregorek H, Wozniewicz B, Mlynarski W, Witas HW. Source: Journal of Pediatric Gastroenterology and Nutrition. 2001 January; 32(1): 114-5. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11176342&dopt=Abstract

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Cognitive and behavioral characteristics of turner syndrome: exploring a role for ovarian hormones in female sexual differentiation. Author(s): Collaer ML, Geffner ME, Kaufman FR, Buckingham B, Hines M. Source: Hormones and Behavior. 2002 March; 41(2): 139-55. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11855899&dopt=Abstract

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Combination growth hormone and estrogen increase bone mineralization in girls with Turner syndrome. Author(s): Beckett PR, Copeland KC, Flannery TK, Sherman LD, Abrams SA. Source: Pediatric Research. 1999 May; 45(5 Pt 1): 709-13. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10231869&dopt=Abstract

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Combined trisomy 9 and Ullrich-Turner syndrome in a girl with a 46,X,der(9)t(X;9)(q12;q32) karyotype. Author(s): Canun S, Mutchinick O, Shaffer LG, Fernandez C. Source: American Journal of Medical Genetics. 1998 November 16; 80(3): 199-203. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9843037&dopt=Abstract

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Communication problems in Turner syndrome: a sample survey. Author(s): Van Borsel J, Dhooge I, Verhoye K, Derde K, Curfs L. Source: Journal of Communication Disorders. 1999 November-December; 32(6): 435-44; Quiz 444-6. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10560716&dopt=Abstract

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Corpus callosum and posterior fossa development in monozygotic females: a morphometric MRI study of Turner syndrome. Author(s): Fryer SL, Kwon H, Eliez S, Reiss AL. Source: Developmental Medicine and Child Neurology. 2003 May; 45(5): 320-4. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12729146&dopt=Abstract

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Cri du chat and Turner syndrome features in a newborn girl with an unbalanced 45,X,psu dic(5;X)(p15.2;p22.1) karyotype: FISH and replication banding studies. Author(s): Reddy KS, Smith DL, Ball CS. Source: Annales De Genetique. 1999; 42(2): 105-8. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10434125&dopt=Abstract

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Crown components of mandibular molar teeth in 45,X females (Turner syndrome). Author(s): Zilberman U, Smith P, Alvesalo L. Source: Archives of Oral Biology. 2000 March; 45(3): 217-25. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10761875&dopt=Abstract

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Cutis verticis gyrata in a child with Turner syndrome. Author(s): Parolin Marinoni L, Taniguchi K, Giraldi S, Carvalho VO, Furucho M, Bertogna J. Source: Pediatric Dermatology. 1999 May-June; 16(3): 242-3. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10383787&dopt=Abstract

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del(X)(p22.1)/r(X)(p22.1q28) Dynamic mosaicism in a Turner syndrome patient. Author(s): Gutierrez-Angulo M, Lazalde B, Vasquez AI, Leal C, Corral E, Rivera H. Source: Annales De Genetique. 2002 January-March; 45(1): 17-20. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11934385&dopt=Abstract

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Delayed spontaneous pubertal growth spurt in girls with the Ullrich-Turner syndrome. Author(s): Pelz L, Sager G, Hinkel GK, Kirchner M, Kruger G, Verron G. Source: American Journal of Medical Genetics. 1991 September 15; 40(4): 401-5. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1746600&dopt=Abstract

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Delayed spontaneous pubertal growth spurt in girls with Ullrich-Turner syndrome. Author(s): Massa G, Vanderschueren-Lodeweyckx M. Source: American Journal of Medical Genetics. 1992 September 1; 44(1): 124-5. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1489413&dopt=Abstract

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Deletion of the short arm of the X chromosome: a hereditary form of Turner syndrome. Author(s): Massa G, Vanderschueren-Lodeweyckx M, Fryns JP. Source: European Journal of Pediatrics. 1992 December; 151(12): 893-4. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1473542&dopt=Abstract

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Dental management of a patient with Turner syndrome. Author(s): Vandewalle KS, Castro GW, Camm JH. Source: J Clin Pediatr Dent. 1993 Fall; 18(1): 26-30. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8110609&dopt=Abstract

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Detection and incidence of cryptic Y chromosome sequences in Turner syndrome patients. Author(s): Patsalis PC, Sismani C, Hadjimarcou MI, Kitsiou-Tzeli S, Tzezou A, Hadjiathanasiou CG, Velissariou V, Lymberatou E, Moschonas NK, Skordis N. Source: Clinical Genetics. 1998 April; 53(4): 249-57. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9650760&dopt=Abstract

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Detection of cryptic Y chromosome mosaicism by coamplification PCR with archived cytogenetic slides of suspected Turner syndrome. Author(s): Kim JW, Cho EH, Kim YM, Kim JM, Han JY, Park SY. Source: Experimental & Molecular Medicine. 2000 March 31; 32(1): 38-41. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10762060&dopt=Abstract

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Detection of fetal Turner syndrome with multiple-marker screening. Author(s): Wenstrom KD, Williamson RA, Grant SS. Source: American Journal of Obstetrics and Gynecology. 1994 February; 170(2): 570-3. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7509569&dopt=Abstract

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Detection of Y-specific sequences in 122 patients with Turner syndrome: nested PCR is not a reliable method. Author(s): Nishi MY, Domenice S, Medeiros MA, Mendonca BB, Billerbeck AE. Source: American Journal of Medical Genetics. 2002 February 1; 107(4): 299-305. Erratum In: Am J Med Genet. 2002 November 15; 113(1): 116-7. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11840486&dopt=Abstract

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Detection of Y-specific sequences in patients with Turner syndrome. Author(s): Hall JG. Source: American Journal of Medical Genetics. 2002 November 15; 113(1): 114; Author Reply 115. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12400078&dopt=Abstract

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Developmental changes in motor function in girls with Turner syndrome. Author(s): Ross JL, Kushner H, Roeltgen DP. Source: Pediatric Neurology. 1996 November; 15(4): 317-22. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8972531&dopt=Abstract

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Differences in carbohydrate tolerance in Turner syndrome depending on age and karyotype. Author(s): Cicognani A, Mazzanti L, Tassinari D, Pellacani A, Forabosco A, Landi L, Pifferi C, Cacciari E. Source: European Journal of Pediatrics. 1988 October; 148(1): 64-8. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=3058482&dopt=Abstract

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Different chromosome Y abnormalities in Turner syndrome. Author(s): Bagci G, Acar H, Tomruk H. Source: Genet Couns. 2001; 12(3): 255-61. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11693789&dopt=Abstract

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Disappearing intracardiac thrombi in both atria after mumps in a patient with Turner syndrome. Author(s): Bakiler AR, Cangar S, Aksit S, Unver A, Yaprak I, Caglayan S. Source: Chest. 1993 May; 103(5): 1611-2. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8486057&dopt=Abstract

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Discriminant analysis of the Ullrich-Turner syndrome neurocognitive profile. Author(s): Ross JL, Kushner H, Zinn AR. Source: American Journal of Medical Genetics. 1997 October 31; 72(3): 275-80. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9332653&dopt=Abstract

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Distinctive patterns of memory function in subgroups of females with Turner syndrome: evidence for imprinted loci on the X-chromosome affecting neurodevelopment. Author(s): Bishop DV, Canning E, Elgar K, Morris E, Jacobs PA, Skuse DH. Source: Neuropsychologia. 2000; 38(5): 712-21. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10689047&dopt=Abstract

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Dose-dependent effect of growth hormone therapy on glucose metabolism in subjects with Turner syndrome. The German Lilly Ullrich-Turner Syndrome Study Group. Author(s): Weise M, James D, Hartmann KH, Reinhardt D, Leitner C, Bohles HJ, Attanasio A. Source: Hormone Research. 1993; 39 Suppl 2: 25-9. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8359785&dopt=Abstract

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Double aneuploidy: 46,X, +21 a combination of Down syndrome and Turner syndrome. Author(s): Ruangdaraganon N, Kotchabhakdi N, Mekanandha V. Source: J Med Assoc Thai. 1993 October; 76 Suppl 2: 215-7. No Abstract Available. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7822996&dopt=Abstract

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Down-Turner syndrome: case report and review. Author(s): Van Buggenhout GJ, Hamel BC, Trommelen JC, Mieloo H, Smeets DF. Source: Journal of Medical Genetics. 1994 October; 31(10): 807-10. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7837259&dopt=Abstract

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Dysgerminoma in a pure 45,X Turner syndrome: report of a case and review of the literature. Author(s): Pierga JY, Giacchetti S, Vilain E, Extra JM, Brice P, Espie M, Maragi JA, Fellous M, Marty M. Source: Gynecologic Oncology. 1994 December; 55(3 Pt 1): 459-64. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7835789&dopt=Abstract

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Ear and hearing in relation to genotype and growth in Turner syndrome. Author(s): Barrenasa M, Landin-Wilhelmsenb K, Hansonc C. Source: Hearing Research. 2000 June; 144(1-2): 21-8. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10831862&dopt=Abstract

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Early second-trimester diagnosis of monozygotic twins discordant for cystic hygroma colli and Turner syndrome. Author(s): Chen CP, Chang TY, Chern SR, Town DD, Pan CW, Lee MS, Wang W. Source: Prenatal Diagnosis. 2003 April; 23(4): 352-3. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12673645&dopt=Abstract

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Early-onset sensorineural hearing loss in a child with Turner syndrome. Author(s): Roush J, Davenport ML, Carlson-Smith C. Source: Journal of the American Academy of Audiology. 2000 September; 11(8): 446-53. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11012240&dopt=Abstract

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Effect of conventional dose growth hormone therapy for two years on height velocity and height prognosis in girls with Turner syndrome. Author(s): Lenko HL, Hakulinen A, Kaar ML, Maenpaa J, Makela AL, Sipila I. Source: Hormone Research. 1993; 39 Suppl 2: 3-6. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8395455&dopt=Abstract

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Effect of discontinuation of long-term growth hormone treatment on carbohydrate metabolism and risk factors for cardiovascular disease in girls with Turner syndrome. Author(s): Van Pareren YK, De Muinck Keizer-Schrama SM, Stijnen T, Sas TC, Drop SL. Source: The Journal of Clinical Endocrinology and Metabolism. 2002 December; 87(12): 5442-8. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12466334&dopt=Abstract

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Effect of estrogen replacement therapy on bone mineral content in girls with Turner syndrome. Author(s): Mora S, Weber G, Guarneri MP, Nizzoli G, Pasolini D, Chiumello G. Source: Obstetrics and Gynecology. 1992 May; 79(5 ( Pt 1)): 747-51. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1565360&dopt=Abstract

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Effect of growth hormone and oxandrolone treatment on glucose metabolism in Turner syndrome. A longitudinal study. Author(s): Joss EE, Zurbrugg RP, Tonz O, Mullis PE. Source: Hormone Research. 2000; 53(1): 1-8. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10965213&dopt=Abstract

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Effect of growth hormone treatment on hyperinsulinemia associated with Turner syndrome. Author(s): Caprio S, Boulware SD, Press M, Sherwin RS, Rubin K, Carpenter TO, Plewe G, Tamborlane WV. Source: The Journal of Pediatrics. 1992 February; 120(2 Pt 1): 238-43. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1735819&dopt=Abstract

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Effect of oestrogen/gestagen replacement therapy on liver enzymes in patients with Ullrich-Turner syndrome. Author(s): Wemme H, Pohlenz J, Schonberger W. Source: European Journal of Pediatrics. 1995 October; 154(10): 807-10. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8529677&dopt=Abstract

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Effects of long-term growth hormone therapy on adrenal steroidogenesis in Turner syndrome. Author(s): Balducci R, Toscano V, Larizza D, Mangiantini A, Galasso C, Municchi G, Di Rito A, Picone S, Boscherini B. Source: Hormone Research. 1998; 49(5): 210-5. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9568804&dopt=Abstract

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Effects of X-monosomy and X-linked imprinting on superior temporal gyrus morphology in Turner syndrome. Author(s): Kesler SR, Blasey CM, Brown WE, Yankowitz J, Zeng SM, Bender BG, Reiss AL. Source: Biological Psychiatry. 2003 September 15; 54(6): 636-46. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=13129659&dopt=Abstract

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Eight-year follow-up of Axenfeld-Rieger syndrome with Turner syndrome. Author(s): Kocak-Midillioglu I, Karadeniz N, Yalvac I, Kocak-Altintas AG, Duman S. Source: Eur J Ophthalmol. 2003 July; 13(6): 580-3. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12948319&dopt=Abstract

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Endogenous growth hormone secretion does not correlate with growth in patients with Turner's syndrome. Italian Study Group for Turner Syndrome. Author(s): Cavallo L, Gurrado R. Source: J Pediatr Endocrinol Metab. 1999 September-October; 12(5): 623-7. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10703533&dopt=Abstract

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Essential hyperhidrosis in Turner syndrome. Author(s): Noppen M, Vincken W. Source: Clinical Genetics. 1997 July; 52(1): 63-4. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9272716&dopt=Abstract

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Evidence for a Turner syndrome locus or loci at Xp11.2-p22.1. Author(s): Zinn AR, Tonk VS, Chen Z, Flejter WL, Gardner HA, Guerra R, Kushner H, Schwartz S, Sybert VP, Van Dyke DL, Ross JL. Source: American Journal of Human Genetics. 1998 December; 63(6): 1757-66. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9837829&dopt=Abstract

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Evidence of a normal mean telomere fragment length in patients with Ullrich-Turner syndrome. Author(s): Kveiborg M, Gravholt CH, Kassem M. Source: European Journal of Human Genetics : Ejhg. 2001 November; 9(11): 877-9. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11781707&dopt=Abstract

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Expectation bias with respect to growth hormone therapy in Turner syndrome. Author(s): Bramswig JH. Source: European Journal of Endocrinology / European Federation of Endocrine Societies. 1997 November; 137(5): 446-7. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9405019&dopt=Abstract

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Experience with growth hormone therapy in Turner syndrome in a single centre: low total height gain, no further gains after puberty onset and unchanged body proportions. Author(s): Schweizer R, Ranke MB, Binder G, Herdach F, Zapadlo M, Grauer ML, Schwarze CP, Wollmann HA. Source: Hormone Research. 2000; 53(5): 228-38. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11150884&dopt=Abstract

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Extensive analysis of mosaicism in a case of Turner syndrome: the experience of 287 cytogenetic laboratories. College of American Pathologists/American College of Medical Genetics Cytogenetics Resource Committee. Author(s): Park JP, Brothman AR, Butler MG, Cooley LD, Dewald GW, Lundquist KF, Palmer CG, Patil SR, Rao KW, Saikevych IA, Schneider NR, Vance GH. Source: Archives of Pathology & Laboratory Medicine. 1999 May; 123(5): 381-5. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10235494&dopt=Abstract

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Extensive cytogenetic studies of clonality following interferon-alpha therapy in chronic myeloid leukemia occurring in monosomic cells in a patient with Turner syndrome mosaic. Author(s): Takeshita A, Shinjo K, Yamashita M, Fujisawa S, Naito K, Ohnishi K, Takahashi K, Matsui H, Ohno R. Source: Leukemia : Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 1999 November; 13(11): 1749-53. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10557048&dopt=Abstract

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Face and emotion recognition deficits in Turner syndrome: a possible role for Xlinked genes in amygdala development. Author(s): Lawrence K, Kuntsi J, Coleman M, Campbell R, Skuse D. Source: Neuropsychology. 2003 January; 17(1): 39-49. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12597072&dopt=Abstract

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Familial factors and hearing impairment modulate the neuromotor phenotype in Turner syndrome. Author(s): Haverkamp F, Keuker T, Woelfle J, Kaiser G, Zerres K, Rietz C, Ruenger M. Source: European Journal of Pediatrics. 2003 January; 162(1): 30-5. Epub 2002 November 22. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12486504&dopt=Abstract

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Favorable final height outcome in girls with Ullrich-Turner syndrome treated with low-dose growth hormone together with oxandrolone despite starting treatment after 10 years of age. Author(s): Stahnke N, Keller E, Landy H; Serono Study Group. Source: J Pediatr Endocrinol Metab. 2002 February; 15(2): 129-38. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11874177&dopt=Abstract

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Female pseudohermaphroditism due to classical 21-hydroxylase deficiency in a girl with Turner syndrome. Author(s): Maciel-Guerra AT, Guerra G Jr, Marini SH, Matias Baptista MT, Marques-deFaria AP. Source: Clinical Genetics. 1997 May; 51(5): 351-3. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9212186&dopt=Abstract

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Female with autistic disorder and monosomy X (Turner syndrome): parent-of-origin effect of the X chromosome. Author(s): Donnelly SL, Wolpert CM, Menold MM, Bass MP, Gilbert JR, Cuccaro ML, Delong GR, Pericak-Vance MA. Source: American Journal of Medical Genetics. 2000 June 12; 96(3): 312-6. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10898907&dopt=Abstract

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Fertility and pregnancy outcome in Danish women with Turner syndrome. Author(s): Birkebaek NH, Cruger D, Hansen J, Nielsen J, Bruun-Petersen G. Source: Clinical Genetics. 2002 January; 61(1): 35-9. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11903353&dopt=Abstract

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Final height after long-term growth hormone treatment in Thai children with Turner syndrome. Author(s): Mahachoklertwattana P, Preeyasombat C, Choubtum L, Sriphrapradang A. Source: Hormone Research. 1998; 49 Suppl 1: 55. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9554477&dopt=Abstract

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Final height in girls with turner syndrome after long-term growth hormone treatment in three dosages and low dose estrogens. Author(s): van Pareren YK, de Muinck Keizer-Schrama SM, Stijnen T, Sas TC, Jansen M, Otten BJ, Hoorweg-Nijman JJ, Vulsma T, Stokvis-Brantsma WH, Rouwe CW, Reeser HM, Gerver WJ, Gosen JJ, Rongen-Westerlaken C, Drop SL. Source: The Journal of Clinical Endocrinology and Metabolism. 2003 March; 88(3): 111925. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12629094&dopt=Abstract

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Final height in Turner syndrome patients treated with growth hormone. Author(s): Rochiccioli P, Battin J, Bertrand AM, Bost M, Cabrol S, le Bouc Y, Chaussain JL, Chatelain P, Colle M, Czernichow P, et al. Source: Hormone Research. 1995; 44(4): 172-6. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8522279&dopt=Abstract

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Final height in young women with Turner syndrome after GH therapy: an open controlled study. Author(s): Hochberg Z, Zadik Z. Source: European Journal of Endocrinology / European Federation of Endocrine Societies. 1999 September; 141(3): 218-24. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10474118&dopt=Abstract

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Final height of patients with Turner's syndrome treated with growth hormone (GH): indications for GH therapy alone at high doses and late estrogen therapy. Italian Study Group for Turner Syndrome. Author(s): Cacciari E, Mazzanti L. Source: The Journal of Clinical Endocrinology and Metabolism. 1999 December; 84(12): 4510-5. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10599710&dopt=Abstract

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Final height outcome in girls with Turner syndrome treated with a combination of low dose oestrogen and oxandrolone. Author(s): Bareille P, Massarano AA, Stanhope R. Source: European Journal of Pediatrics. 1997 May; 156(5): 358-62. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9177976&dopt=Abstract

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Fluorescence in situ hybridisation analysis and ovarian histology of women with Turner syndrome presenting with Y-chromosomal material: a correlation between oral epithelial cells, lymphocytes and ovarian tissue. Author(s): Hanson L, Bryman I, Janson PO, Jakobsen AM, Hanson C. Source: Hereditas. 2002; 137(1): 1-6. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12564626&dopt=Abstract

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Focal segmental glomerulosclerosis and Turner syndrome. Author(s): Wattad A, Jain J, Kerrigan J, Youngberg G. Source: Nephron. 1998 September; 80(1): 106. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9730724&dopt=Abstract

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Fox-Fordyce disease: two cases in patients with Turner syndrome. Author(s): Patrizi A, Orlandi C, Neri I, Fanti PA, Mazzanti L. Source: Acta Dermato-Venereologica. 1999 January; 79(1): 83-4. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10086869&dopt=Abstract

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Frequency of renal malformations in Turner syndrome: analysis of 82 Turkish children. Author(s): Bilge I, Kayserili H, Emre S, Nayir A, Sirin A, Tukel T, Bas F, Kilic G, Basaran S, Gunoz H, Apak M. Source: Pediatric Nephrology (Berlin, Germany). 2000 October; 14(12): 1111-4. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11045397&dopt=Abstract

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Frequency of Y chromosomal material in Mexican patients with Ullrich-Turner syndrome. Author(s): Lopez M, Canto P, Aguinaga M, Torres L, Cervantes A, Alfaro G, Mendez JP, Kofman-Alfaro S. Source: American Journal of Medical Genetics. 1998 March 5; 76(2): 120-4. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9511973&dopt=Abstract

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Functional equivalence of human X- and Y-encoded isoforms of ribosomal protein S4 consistent with a role in Turner syndrome. Author(s): Watanabe M, Zinn AR, Page DC, Nishimoto T. Source: Nature Genetics. 1993 July; 4(3): 268-71. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8358435&dopt=Abstract

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Functional neuroanatomy of visuo-spatial working memory in Turner syndrome. Author(s): Haberecht MF, Menon V, Warsofsky IS, White CD, Dyer-Friedman J, Glover GH, Neely EK, Reiss AL. Source: Human Brain Mapping. 2001 October; 14(2): 96-107. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11500993&dopt=Abstract

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Further delineation of aortic dilation, dissection, and rupture in patients with Turner syndrome. Author(s): Lin AE, Lippe B, Rosenfeld RG. Source: Pediatrics. 1998 July; 102(1): E12. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9651464&dopt=Abstract

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Ganglioneuroma of left adrenal gland in a patient with Turner syndrome during growth hormone therapy. Author(s): Matsuoka H, Shibata E, Ikezaki A, Kim HS, Yamazaki K, Murata M. Source: Acta Paediatr Jpn. 1997 October; 39(5): 628-30. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9363667&dopt=Abstract

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Gender-specific differences of serum leptin in obese and normal-weight adolescents: studies in type-I diabetes and Turner syndrome. Author(s): Danne T, Gruters A, Wladimirova A, Weber B, Horn R, Mayr B, Brabant G. Source: Hormone Research. 1997; 48(3): 103-7. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11546926&dopt=Abstract

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Genetic analysis of mosaicism in 53 women with Turner syndrome. Author(s): Hanson L, Bryman I, Barrenas ML, Janson PO, Wahlstrom J, AlbertssonWikland K, Hanson C. Source: Hereditas. 2001; 134(2): 153-9. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11732852&dopt=Abstract

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Gonadotrophin pulsatility in girls with the Turner syndrome: modulation by exogenous sex steroids. Author(s): Nathwani NC, Hindmarsh PC, Massarano AA, Brook CG. Source: Clinical Endocrinology. 1998 July; 49(1): 107-13. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9797854&dopt=Abstract

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Growing interest in Turner syndrome. Author(s): Zinn AR. Source: Nature Genetics. 1997 May; 16(1): 3-4. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9140381&dopt=Abstract

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Growth failure in early life: an important manifestation of Turner syndrome. Author(s): Davenport ML, Punyasavatsut N, Stewart PW, Gunther DF, Savendahl L, Sybert VP. Source: Hormone Research. 2002; 57(5-6): 157-64. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12053087&dopt=Abstract

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Growth hormone and low dose estrogen in Turner syndrome: results of a United States multi-center trial to near-final height. Author(s): Quigley CA, Crowe BJ, Anglin DG, Chipman JJ. Source: The Journal of Clinical Endocrinology and Metabolism. 2002 May; 87(5): 2033-41. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11994337&dopt=Abstract

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Growth hormone in Turner syndrome. Author(s): Price DA, Ranke MB. Source: Archives of Disease in Childhood. 2001 June; 84(6): 525. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11372087&dopt=Abstract

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Growth hormone therapy for Turner syndrome: evidence for benefit. Author(s): Carel JC, Mathivon L, Gendrel C, Chaussain JL. Source: Hormone Research. 1997; 48 Suppl 5: 31-4. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9434042&dopt=Abstract

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Growth hormone therapy in patients with Turner syndrome. Author(s): Haeusler G. Source: Hormone Research. 1998; 49 Suppl 2: 62-6. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9730674&dopt=Abstract

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Growth hormone therapy in pre-pubertal children with Noonan syndrome: first year growth response and comparison with Turner syndrome. Author(s): De Schepper J, Otten BJ, Francois I, Bourguignon JP, Craen M, Van der Burgt I, Massa GG. Source: Acta Paediatrica (Oslo, Norway : 1992). 1997 September; 86(9): 943-6. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9343272&dopt=Abstract

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Growth hormone therapy in Turner syndrome. Author(s): Lee YJ. Source: Acta Paediatr Taiwan. 2000 November-December; 41(6): 292-3. No Abstract Available. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11198933&dopt=Abstract

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Growth hormone therapy in Turner syndrome--current uncertainties and future strategies. Author(s): Donaldson MD. Source: Hormone Research. 1997; 48 Suppl 5: 35-44. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9434043&dopt=Abstract

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Growth hormone therapy of Turner syndrome: the impact of age of estrogen replacement on final height. Genentech, Inc., Collaborative Study Group. Author(s): Chernausek SD, Attie KM, Cara JF, Rosenfeld RG, Frane J. Source: The Journal of Clinical Endocrinology and Metabolism. 2000 July; 85(7): 2439-45. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10902791&dopt=Abstract

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Growth hormone treatment of girls with Turner syndrome: the National Cooperative Growth Study experience. Author(s): Plotnick L, Attie KM, Blethen SL, Sy JP. Source: Pediatrics. 1998 August; 102(2 Pt 3): 479-81. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9685447&dopt=Abstract

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Growth hormone treatment regimens in girls with Turner syndrome. Dutch Advisory Group on Growth Hormone. Author(s): de Muinck Keizer-Schrama SM, Sas TC. Source: Acta Paediatrica (Oslo, Norway : 1992). Supplement. 1999 December; 88(433): 126-9. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10626563&dopt=Abstract

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Growth response and final height in Turner syndrome after combination therapy of growth hormone and anabolic steroid. Author(s): Shu SG. Source: Acta Paediatr Taiwan. 2000 November-December; 41(6): 322-6. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11198939&dopt=Abstract

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Growth response and levels of growth factors after two years growth hormone treatment are similar for a once and twice daily injection regimen in girls with Turner syndrome. (Dutch Working Group on Growth Hormone). Author(s): van Teunenbroek A, de Muinck Keizer-Schrama S, Stijnen T, Waelkens J, Wit JM, Vulsma T, Gerver WJ, Reeser H, Delemarre-van de Waal H, Jansen M, Drop S. Source: Clinical Endocrinology. 1997 April; 46(4): 451-9. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9196608&dopt=Abstract

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Growth retardation in Turner syndrome: aneuploidy, rather than specific gene loss, may explain growth failure. Author(s): Haverkamp F, Wolfle J, Zerres K, Butenandt O, Amendt P, Hauffa BP, Weimann E, Bettendorf M, Keller E, Muhlenberg R, Partsch CJ, Sippell WG, Hoppe C. Source: The Journal of Clinical Endocrinology and Metabolism. 1999 December; 84(12): 4578-82. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10599722&dopt=Abstract

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Growth-promoting effect of recombinant human growth hormone and stanozolol in girls with Turner syndrome. Author(s): Fang J, Ning C, Shu D, Wei H, Lin H, Wang M. Source: J Tongji Med Univ. 1999; 19(1): 63-5. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12840880&dopt=Abstract

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Health care utilization and perceptions of health among adolescents and adults with Turner syndrome. Author(s): Cunniff C, Hassed SJ, Hendon AE, Rickert VI. Source: Clinical Genetics. 1995 July; 48(1): 17-22. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7586639&dopt=Abstract

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Health supervision for children with Turner syndrome. Author(s): Noonan JA. Source: Pediatrics. 1997 January; 99(1): 146-7. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8989362&dopt=Abstract

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Health supervision for children with Turner syndrome. Author(s): Rappo PD. Source: Pediatrics. 1997 January; 99(1): 146; Author Reply 147. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8989361&dopt=Abstract

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Health supervision for children with Turner syndrome. Author(s): Freed MD, Moodie DS, Driscoll DJ, Bricker JT. Source: Pediatrics. 1997 January; 99(1): 146; Author Reply 147. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8989360&dopt=Abstract

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Health supervision for children with Turner syndrome. Author(s): Roge C, Cooper M, Tarnoff H. Source: Pediatrics. 1997 January; 99(1): 145-6; Author Reply 147. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8989359&dopt=Abstract

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Health supervision for children with Turner syndrome. Author(s): Frias JL, Davenport ML; Committee on Genetics and Section on Endocrinology. Source: Pediatrics. 2003 March; 111(3): 692-702. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12612263&dopt=Abstract

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Hearing loss in Turner syndrome. Author(s): Sculerati N, Oddoux C, Clayton CM, Lim JW, Oster H. Source: The Laryngoscope. 1996 August; 106(8): 992-7. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8699915&dopt=Abstract

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Hemidiaphragmatic paralysis, an unusual presentation of Parsonage-Turner syndrome. Author(s): Pieters T, Lambert M, Huaux JP, Nagant de Deuxchaisnes C. Source: Clinical Rheumatology. 1988 September; 7(3): 402-5. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=3229087&dopt=Abstract

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High frequency hearing loss in Ullrich-Turner syndrome. Author(s): Gungor N, Boke B, Belgin E, Tuncbilek E. Source: European Journal of Pediatrics. 2000 October; 159(10): 740-4. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11039128&dopt=Abstract

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High frequency of tissue-specific mosaicism in Turner syndrome patients. Author(s): Nazarenko SA, Timoshevsky VA, Sukhanova NN. Source: Clinical Genetics. 1999 July; 56(1): 59-65. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10466418&dopt=Abstract

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High incidence of mental retardation in Turner syndrome patients with ring chromosome X formation. Author(s): Fryns JP, Kleczkowska A, Van Den Berghe H. Source: Genet Couns. 1990; 1(2): 161-5. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=2080999&dopt=Abstract

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High incidence of thyroid disturbances in 49 children with Turner syndrome. Author(s): Gruneiro de Papendieck L, Iorcansky S, Coco R, Rivarola MA, Bergada C. Source: The Journal of Pediatrics. 1987 August; 111(2): 258-61. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=3612400&dopt=Abstract

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Homologous ribosomal protein genes on the human X and Y chromosomes: escape from X inactivation and possible implications for Turner syndrome. Author(s): Fisher EM, Beer-Romero P, Brown LG, Ridley A, McNeil JA, Lawrence JB, Willard HF, Bieber FR, Page DC. Source: Cell. 1990 December 21; 63(6): 1205-18. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=2124517&dopt=Abstract

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Horseshoe kidney and Turner syndrome. Author(s): Kleta R, Bramswig JH. Source: Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association. 2000 July; 15(7): 1094. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10862660&dopt=Abstract

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H-Y antigen in XO/X,iso(X) mosaic Turner syndrome. Author(s): Meade KW, Wachtel SS, Davis JR, Lightner ES. Source: Obstetrics and Gynecology. 1981 May; 57(5): 594-9. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7194461&dopt=Abstract

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Hypertension, aortic dilatation and aortic dissection in Turner syndrome: a potentially lethal triad. Author(s): Rosenfeld RG. Source: Clinical Endocrinology. 2001 February; 54(2): 155-6. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11207627&dopt=Abstract

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Hypothalamic-pituitary-ovarian function in menstruating women with Turner syndrome (45,X). Author(s): Page LA, Beauregard LJ, Bode HH, Beitins IZ. Source: Pediatric Research. 1990 November; 28(5): 514-7. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=2255575&dopt=Abstract

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Identification of the origin of ring/marker chromosomes in patients with UllrichTurner syndrome using X and Y specific alpha satellite DNA probes. Author(s): Tharapel SA, Wilroy RS, Keath AM, Rivas ML, Tharapel AT. Source: American Journal of Medical Genetics. 1992 March 1; 42(5): 720-3. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1632446&dopt=Abstract

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Identification of Y chromatin directly in gonadal tissue by fluorescence in situ hybridization (FISH): significance for Ullrich-Turner syndrome screening in the cytogenetics laboratory. Author(s): Atkins KE, Gregg A, Spikes AS, Bacino CA, Bejjani BA, Kirkland J, Shaffer LG. Source: American Journal of Medical Genetics. 2000 April 24; 91(5): 377-82. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10767002&dopt=Abstract

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Identification of Y-chromosomal DNA in a Turner syndrome mosaic by polymerase chain reaction. Author(s): Louie E, Nemeti M, Torfi H, Poskanzer LB, Anderson FR, Johnson JP. Source: Annales De Genetique. 1991; 34(3-4): 252-5. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1809235&dopt=Abstract

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Immunologic studies in Turner syndrome before and during treatment with growth hormone. The Dutch Growth Hormone Working Group. Author(s): Rongen-Westerlaken C, Rijkers GT, Scholtens EJ, van Es A, Wit JM, van den Brande JL, Zegers BJ. Source: The Journal of Pediatrics. 1991 August; 119(2): 268-72. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1861212&dopt=Abstract

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Increased disorderliness and decreased mass and daily rate of endogenous growth hormone secretion in adult Turner syndrome: the impact of body composition, maximal oxygen uptake and treatment with sex hormones. Author(s): Gravholt CH, Veldhuis JD, Christiansen JS. Source: Growth Hormone & Igf Research : Official Journal of the Growth Hormone Research Society and the International Igf Research Society. 1998 August; 8(4): 289-98. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10984320&dopt=Abstract

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Increased frequency of HLA B17 antigen in girls with Turner syndrome and their fathers. Author(s): Dacou-Voutetakis C, Georgopoulos N, Pappa H, Vlachos K, Tarassi K, Chryssovergi D, Papasteriades C. Source: Disease Markers. 1993 December; 11(5-6): 263-6. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8082315&dopt=Abstract

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Increased prevalence of celiac disease in girls with Turner syndrome detected using antibodies to endomysium and tissue transglutaminase. Author(s): Gillett PM, Gillett HR, Israel DM, Metzger DL, Stewart L, Chanoine JP, Freeman HJ. Source: Canadian Journal of Gastroenterology = Journal Canadien De Gastroenterologie. 2000 December; 14(11): 915-8. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11125180&dopt=Abstract

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Increased prevalence of scoliosis in Turner syndrome. Author(s): Kim JY, Rosenfeld SR, Keyak JH. Source: Journal of Pediatric Orthopedics. 2001 November-December; 21(6): 765-6. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11675551&dopt=Abstract

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Increased urinary excretion of collagen crosslinks in girls with Ullrich-Turner syndrome. Author(s): Rauch F, Seibel M, Woitge H, Kruse K, Schonau E. Source: Acta Paediatrica (Oslo, Norway : 1992). 1995 January; 84(1): 66-9. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7734903&dopt=Abstract

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Influence of HLA genotype on birth weight of patients with Turner syndrome. Author(s): Larizza D, Martinetti M, Pizzochero C, Cuccia M, Severi F. Source: Human Genetics. 1992 February; 88(4): 383-7. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1740315&dopt=Abstract

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Influence of oestrogen in high and low doses on plasma steroid concentrations in girls with tall stature and Turner syndrome. Author(s): Zachmann M, Manella B, Eiholzer U, Bucher H, Prader A. Source: Acta Endocrinol (Copenh). 1984 July; 106(3): 368-73. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=6741400&dopt=Abstract

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Insulin-like growth factor binding protein 1 (IGFBP-1) levels in Turner syndrome. Author(s): Cianfarani S, Holly JM, Pasquino AM, Vaccaro F, Spadoni GL, Bernardini S, Segni M, Boscherini B. Source: Hormone and Metabolic Research. Hormon- Und Stoffwechselforschung. Hormones Et Metabolisme. 1992 November; 24(11): 537-40. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1280613&dopt=Abstract

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Intellectual functioning in Turner syndrome. Author(s): Pidcock FS. Source: Developmental Medicine and Child Neurology. 1984 August; 26(4): 539-42. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=6383910&dopt=Abstract

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Intellectual functioning of children with Turner syndrome: a comparison of behavioural phenotypes. Author(s): Temple CM, Carney RA. Source: Developmental Medicine and Child Neurology. 1993 August; 35(8): 691-8. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7687571&dopt=Abstract

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Intelligence, behaviour and psychosocial development in Turner syndrome. A crosssectional study of 50 pre-adolescent and adolescent girls (4-20 years). Author(s): Swillen A, Fryns JP, Kleczkowska A, Massa G, Vanderschueren-Lodeweyckx M, Van den Berghe H. Source: Genet Couns. 1993; 4(1): 7-18. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8471226&dopt=Abstract

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Interphase fluorescence in situ hybridization in a Turner syndrome variant with IsoXq. A case report. Author(s): Chang SD, Lin SL, Chen FP, Chu KK. Source: J Reprod Med. 1996 March; 41(3): 175-8. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8778416&dopt=Abstract

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Interpreting gaze in Turner syndrome: impaired sensitivity to intention and emotion, but preservation of social cueing. Author(s): Lawrence K, Campbell R, Swettenham J, Terstegge J, Akers R, Coleman M, Skuse D. Source: Neuropsychologia. 2003; 41(8): 894-905. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12667526&dopt=Abstract

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Investigation of Turner syndrome in schizophrenia. Author(s): Prior TI, Chue PS, Tibbo P. Source: American Journal of Medical Genetics. 2000 June 12; 96(3): 373-8. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10898917&dopt=Abstract

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Isodicentric X chromosome in a patient with Turner syndrome--implications for localization of the X-inactivation center. Author(s): Pettigrew AL, McCabe ER, Elder FF, Ledbetter DH. Source: Human Genetics. 1991 August; 87(4): 498-502. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1879836&dopt=Abstract

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Isolated fetal ascites detected by sonography: an unusual presentation of Turner syndrome. Author(s): Wax JR, Blakemore KJ, Baser I, Stetten G. Source: Obstetrics and Gynecology. 1992 May; 79(5 ( Pt 2)): 862-3. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1565388&dopt=Abstract

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Juvenile onset narcolepsy in an individual with Turner syndrome. A case report. Author(s): George CF, Singh SM. Source: Sleep. 1991 June; 14(3): 267-9. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1896729&dopt=Abstract

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Kyphosis in a Turner syndrome population. Author(s): Elder DA, Roper MG, Henderson RC, Davenport ML. Source: Pediatrics. 2002 June; 109(6): E93. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12042587&dopt=Abstract

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Late or delayed induced or spontaneous puberty in girls with Turner syndrome treated with growth hormone does not affect final height. Author(s): Massa G, Heinrichs C, Verlinde S, Thomas M, Bourguignon JP, Craen M, Francois I, Du Caju M, Maes M, De Schepper J; Belgian Study Group for Pediatric Endocrinology. Source: The Journal of Clinical Endocrinology and Metabolism. 2003 September; 88(9): 4168-74. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12970282&dopt=Abstract

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Left middle finger metacarpophalangeal growth in Turner syndrome. Normal values and changes after growth hormone treatment. Author(s): Chavez Meyer H, Ranke MB. Source: Hormone Research. 1991; 35(3-4): 109-12. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1806463&dopt=Abstract

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Letter: Lichen sclerous et atrophicus associated with Turner syndrome. Author(s): Koupaie J. Source: Archives of Dermatology. 1976 August; 112(8): 1174. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=952543&dopt=Abstract

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Letter: Raised amniotic-fluid alpha-fetoprotein in Turner syndrome. Author(s): Seller MJ. Source: Lancet. 1976 April 10; 1(7963): 807. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=56619&dopt=Abstract

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Letter: Raised amniotic-fluid alpha-fetoprotein in Turner syndrome. Author(s): Hunter A, Hammerton JL, Baskett T, Lyons E. Source: Lancet. 1976 March 13; 1(7959): 598-9. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=55886&dopt=Abstract

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Limb lengthening in Turner syndrome. Author(s): Noonan KJ, Leyes M, Forriol F. Source: Iowa Orthop J. 1997; 17: 96-101. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9234980&dopt=Abstract

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Linear growth in patients with Turner syndrome: influence of spontaneous puberty and parental height. Author(s): Massa G, Vanderschueren-Lodeweyckx M, Malvaux P. Source: European Journal of Pediatrics. 1990 January; 149(4): 246-50. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=2303072&dopt=Abstract

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Lipid abnormalities in Turner syndrome. Author(s): Ross JL, Feuillan P, Long LM, Kowal K, Kushner H, Cutler GB Jr. Source: The Journal of Pediatrics. 1995 February; 126(2): 242-5. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7844670&dopt=Abstract

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Liver abnormalities and portal hypertension in Ullrich-Turner syndrome. Author(s): Garavelli L, Donadio A, Banchini G, Fornaciari G, Plancher AC, Franchi F, Gardini G. Source: American Journal of Medical Genetics. 1998 November 2; 80(2): 180-2. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9805139&dopt=Abstract

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Liver abnormalities in Turner syndrome. Author(s): Salerno M, Di Maio S, Gasparini N, Rizzo M, Ferri P, Vajro P. Source: European Journal of Pediatrics. 1999 August; 158(8): 618-23. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10445338&dopt=Abstract

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Liver abnormality in Turner syndrome. Author(s): Sato H, Miyamoto S, Sasaki N. Source: European Journal of Pediatrics. 2001 January; 160(1): 59. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11195021&dopt=Abstract

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Long-term effect of human growth hormone therapy on the prevalence of autoantibodies in Turner syndrome. The Dutch Growth Hormone Working Group. Author(s): Nienhuis HE, Rongen-Westerlaken C, Geertzen HG, Rijkers GT, Zegers BJ, Wit JM. Source: Hormone Research. 1993; 39 Suppl 2: 49-53. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8359789&dopt=Abstract

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Long-term effects of growth hormone treatment on height in Turner syndrome: results of a 6-year multicentre study in Japan. Committee for the Treatment of Turner Syndrome. Author(s): Takano K, Shizume K, Hibi I, Ogawa M, Okada Y, Suwa S, Tanaka T, Hizuka N. Source: Hormone Research. 1995; 43(4): 141-3. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7750916&dopt=Abstract

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Long-term follow-up in females with Ullrich-Turner syndrome. Author(s): Pelz L, Kobschall H, Lubcke UG, Kruger G, Hinkel GK, Verron G. Source: Clinical Genetics. 1991 July; 40(1): 1-5. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1884512&dopt=Abstract

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Long-term results of growth hormone therapy in Turner syndrome. Author(s): Bramswig JH. Source: Endocrine. 2001 June; 15(1): 5-13. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11572325&dopt=Abstract

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Low areal bone mineral density values in adolescents and young adult turner syndrome patients increase after long-term transdermal estradiol therapy. Author(s): Gussinye M, Terrades P, Yeste D, Vicens-Calvet E, Carrascosa A. Source: Hormone Research. 2000; 54(3): 131-5. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11357006&dopt=Abstract

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Lowered plasma albumin concentration in fetal Turner syndrome. Author(s): Shepard TH, Wener MH, Myhre SA, Hickok DE. Source: The Journal of Pediatrics. 1986 January; 108(1): 114-6. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=3080568&dopt=Abstract

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Lymphatic vessel hypoplasia in fetuses with Turner syndrome. Author(s): von Kaisenberg CS, Nicolaides KH, Brand-Saberi B. Source: Human Reproduction (Oxford, England). 1999 March; 14(3): 823-6. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10221720&dopt=Abstract

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Lymphedema as a postulated cause of cutis verticis gyrata in Turner syndrome. Author(s): Larralde M, Gardner SS, Torrado MV, Fernhoff PM, Santos Munoz AE, Spraker MK, Sybert VP. Source: Pediatric Dermatology. 1998 January-February; 15(1): 18-22. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9496797&dopt=Abstract

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Lymphocytic thyroiditis, myasthenia gravis and Turner syndrome. Author(s): Chen H, Hoffman WH, Chang CH, Hart Z, Kaplan J. Source: Birth Defects Orig Artic Ser. 1978; 14(6A): 137-47. No Abstract Available. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=310321&dopt=Abstract

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Marked disproportionality in bone size and mineral, and distinct abnormalities in bone markers and calcitropic hormones in adult turner syndrome: a cross-sectional study. Author(s): Gravholt CH, Lauridsen AL, Brixen K, Mosekilde L, Heickendorff L, Christiansen JS. Source: The Journal of Clinical Endocrinology and Metabolism. 2002 June; 87(6): 2798808. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12050253&dopt=Abstract

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Melanocytic nevi in Turner syndrome. Author(s): Becker B, Jospe N, Goldsmith LA. Source: Pediatric Dermatology. 1994 June; 11(2): 120-4. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8041650&dopt=Abstract

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Mental retardation and Ullrich-Turner syndrome in cases with 45,X/46X,+mar: additional support for the loss of the X-inactivation center hypothesis. Author(s): Cole H, Huang B, Salbert BA, Brown J, Howard-Peebles PN, Black SH, Dorfmann A, Febles OR, Stevens CA, Jackson-Cook C. Source: American Journal of Medical Genetics. 1994 August 15; 52(2): 136-45. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7801998&dopt=Abstract

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Mental retardation in Turner syndrome. Author(s): Van Dyke DL, Wiktor A, Roberson JR, Weiss L. Source: The Journal of Pediatrics. 1991 March; 118(3): 415-7. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1999783&dopt=Abstract

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Microsatellite analysis in Turner syndrome: parental origin of X chromosomes and possible mechanism of formation of abnormal chromosomes. Author(s): Monroy N, Lopez M, Cervantes A, Garcia-Cruz D, Zafra G, Canun S, Zenteno JC, Kofman-Alfaro S. Source: American Journal of Medical Genetics. 2002 January 22; 107(3): 181-9. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11807897&dopt=Abstract

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Mitral valve prolapse in Turner syndrome. Author(s): Bastianon V, Pasquino AM, Giglioni E, Bosco G, Tebaldi L, Cives C, Colloridi V. Source: European Journal of Pediatrics. 1989 April; 148(6): 533-4. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=2663510&dopt=Abstract

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Molecular analysis in Turner syndrome. Author(s): ALvarez-Nava F, Soto M, Sanchez MA, Fernandez E, Lanes R. Source: The Journal of Pediatrics. 2003 March; 142(3): 336-40. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12640385&dopt=Abstract

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Molecular analysis of genes on Xp controlling Turner syndrome and premature ovarian failure (POF). Author(s): Zinn AR, Ross JL. Source: Seminars in Reproductive Medicine. 2001 June; 19(2): 141-6. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11480911&dopt=Abstract

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Molecular genetics of Turner syndrome: correlation with clinical phenotype and response to growth hormone therapy. Author(s): Tsezou A, Hadjiathanasiou C, Gourgiotis D, Galla A, Kavazarakis E, Pasparaki A, Kapsetaki M, Sismani C, Theodoridis C, Patsalis PC, Moschonas N, Kitsiou S. Source: Clinical Genetics. 1999 December; 56(6): 441-6. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10665663&dopt=Abstract

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Monozygotic twins discordant for Ullrich-Turner syndrome. Author(s): Kaplowitz PB, Bodurtha J, Brown J, Spence JE. Source: American Journal of Medical Genetics. 1991 October 1; 41(1): 78-82. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1951467&dopt=Abstract

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Morbidity in Turner syndrome. Author(s): Gravholt CH, Juul S, Naeraa RW, Hansen J. Source: Journal of Clinical Epidemiology. 1998 February; 51(2): 147-58. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9474075&dopt=Abstract

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Morning versus evening administration of estradiol to girls with turner syndrome receiving growth hormone: impact on growth hormone and metabolism. A randomized placebo-controlled crossover study. Author(s): Naeraa RW, Gravholt CH, Kastrup KW, Svenstrup B, Christiansen JS. Source: Acta Paediatrica (Oslo, Norway : 1992). 2001 May; 90(5): 526-31. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11430712&dopt=Abstract

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Mosaic Turner syndrome: cytogenetics versus FISH. Author(s): Abulhasan SJ, Tayel SM, al-Awadi SA. Source: Annals of Human Genetics. 1999 May; 63 ( Pt 3): 199-206. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10738532&dopt=Abstract

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Mosaicism in 45,X Turner syndrome: does survival in early pregnancy depend on the presence of two sex chromosomes? Author(s): Held KR, Kerber S, Kaminsky E, Singh S, Goetz P, Seemanova E, Goedde HW. Source: Human Genetics. 1992 January; 88(3): 288-94. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1733830&dopt=Abstract

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Motor performance in girls with Turner syndrome. Author(s): Nijhuis-van der Sanden RW, Smits-Engelsman BC, Eling PA. Source: Developmental Medicine and Child Neurology. 2000 October; 42(10): 685-90. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11085297&dopt=Abstract

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Multicystic kidney dysplasia and Turner syndrome: two cases and a literature review. Author(s): Fanos V, Schena S, Dal Moro A, Portuese A, Antoniazzi F. Source: Pediatric Nephrology (Berlin, Germany). 2000 August; 14(8-9): 754-7. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10955920&dopt=Abstract

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Multiple-marker screening in pregnancies with hydropic and nonhydropic Turner syndrome. Author(s): Saller DN Jr, Canick JA, Schwartz S, Blitzer MG. Source: American Journal of Obstetrics and Gynecology. 1992 October; 167(4 Pt 1): 10214. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1384332&dopt=Abstract

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Muscle fiber composition and capillary density in Turner syndrome: evidence of increased muscle fiber size related to insulin resistance. Author(s): Gravholt CH, Nyholm B, Saltin B, Schmitz O, Christiansen JS. Source: Diabetes Care. 2001 September; 24(9): 1668-73. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11522717&dopt=Abstract

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Musculoskeletal analyses of the forearm in young women with Turner syndrome: a study using peripheral quantitative computed tomography. Author(s): Bechtold S, Rauch F, Noelle V, Donhauser S, Neu CM, Schoenau E, Schwarz HP. Source: The Journal of Clinical Endocrinology and Metabolism. 2001 December; 86(12): 5819-23. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11739445&dopt=Abstract

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Myelodysplasia associated with Turner syndrome. Author(s): Foster LA, Abboud MR, Taylor AB, Barredo J, Lazarchick J, Laver J. Source: Journal of Pediatric Hematology/Oncology : Official Journal of the American Society of Pediatric Hematology/Oncology. 1996 August; 18(3): 299-301. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8689346&dopt=Abstract

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Neonatal lupus erythematosus in an infant with Turner syndrome. Author(s): Ruas E, Moreno A, Tellechea O, Rocha G, Baptista AP. Source: Pediatric Dermatology. 1996 July-August; 13(4): 298-302. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8844749&dopt=Abstract

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Neuralgic amyotrophy (Parsonage-Turner syndrome): an often misdiagnosed diagnosis. Author(s): Saleem F, Mozaffar T. Source: J Pak Med Assoc. 1999 April; 49(4): 101-3. No Abstract Available. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10540541&dopt=Abstract

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Neurocognitive function and brain imaging in Turner syndrome--preliminary results. Author(s): Ross JL, Reiss AL, Freund L, Roeltgen D, Cutler GB Jr. Source: Hormone Research. 1993; 39 Suppl 2: 65-9. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8359792&dopt=Abstract

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Neurodevelopmental and psychosocial aspects of Turner syndrome. Author(s): Ross J, Zinn A, McCauley E. Source: Mental Retardation and Developmental Disabilities Research Reviews. 2000; 6(2): 135-41. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10899807&dopt=Abstract

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Neurodevelopmental changes with age in Ullrich-Turner syndrome. Author(s): Swillen A, Fryns JP. Source: American Journal of Medical Genetics. 1996 January 11; 61(2): 198. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8669456&dopt=Abstract

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Neutrophil alkaline phosphatase activity in Turner syndrome. Author(s): Grozdea J, Vergnes H, Cambus JP, Bourrouillou G, Calvas P. Source: Acta Haematologica. 1999; 102(4): 201-2. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10725764&dopt=Abstract

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Non-conventional growth hormone therapy in Turner syndrome: the United States experience. Author(s): Rosenfeld RG. Source: Hormone Research. 1990; 33(2-4): 137-40; Discussion 140-2. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=2210618&dopt=Abstract

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Normal growth and normalization of hypergonadotropic hypogonadism in atypical Turner syndrome (45,X/46,XX/47,XXX). Correlation of body height with distribution of cell lines. Author(s): Partsch CJ, Pankau R, Sippell WG, Tolksdorf M. Source: European Journal of Pediatrics. 1994 June; 153(6): 451-5. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8088302&dopt=Abstract

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Normalization of height in girls with Turner syndrome after long-term growth hormone treatment: results of a randomized dose-response trial. Author(s): Sas TC, de Muinck Keizer-Schrama SM, Stijnen T, Jansen M, Otten BJ, Hoorweg-Nijman JJ, Vulsma T, Massa GG, Rouwe CW, Reeser HM, Gerver WJ, Gosen JJ, Rongen-Westerlaken C, Drop SL. Source: The Journal of Clinical Endocrinology and Metabolism. 1999 December; 84(12): 4607-12. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10599727&dopt=Abstract

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Novel karyotype in the Ullrich-Turner syndrome--45,X/46,X,r(X)/46,X, dic(X)-investigated with fluorescence in situ hybridization. Author(s): Robson L, Jackson J, Cowell C, Sillence D, Smith A. Source: American Journal of Medical Genetics. 1994 April 15; 50(3): 251-4. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8042669&dopt=Abstract

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Novel ring chromosome composed of X- and Y-derived material in a girl with manifestations of Ullrich-Turner syndrome. Author(s): Grass FS, Brown CA, Backeljauw PF, Lucas A, Brasington C, Gazak JM, Nakano S, Ostrowski RS, Spence JE. Source: American Journal of Medical Genetics. 2000 August 28; 93(5): 343-8. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10951455&dopt=Abstract

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Occurrence of cancer in women with Turner syndrome. Author(s): Hasle H, Olsen JH, Nielsen J, Hansen J, Friedrich U, Tommerup N. Source: British Journal of Cancer. 1996 May; 73(9): 1156-9. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8624281&dopt=Abstract

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Occurrence of gonadoblastoma in females with Turner syndrome and Y chromosome material: a population study. Author(s): Gravholt CH, Fedder J, Naeraa RW, Muller J. Source: The Journal of Clinical Endocrinology and Metabolism. 2000 September; 85(9): 3199-202. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10999808&dopt=Abstract

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Optimizing estrogen replacement in adolescents with Turner syndrome. Author(s): Rosenfield RL, Perovic N, Devine N. Source: Annals of the New York Academy of Sciences. 2000; 900: 213-4. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10818408&dopt=Abstract

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Optimizing estrogen replacement treatment in Turner syndrome. Author(s): Rosenfield RL, Perovic N, Devine N, Mauras N, Moshang T, Root AW, Sy JP. Source: Pediatrics. 1998 August; 102(2 Pt 3): 486-8. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9685449&dopt=Abstract

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Oral and clinical characteristics of a group of patients with Turner syndrome. Author(s): Lopez ME, Bazan C, Lorca IA, Chervonagura A. Source: Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics. 2002 August; 94(2): 196-204. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12221388&dopt=Abstract

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Oral manifestations of patients with Turner syndrome. Author(s): Szilagyi A, Keszthelyi G, Nagy G, Madlena M. Source: Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics. 2000 May; 89(5): 577-84. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10807714&dopt=Abstract

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Oral-motor dysfunction and feeding disorders of infants with Turner syndrome. Author(s): Mathisen B, Reilly S, Skuse D. Source: Developmental Medicine and Child Neurology. 1992 February; 34(2): 141-9. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1733819&dopt=Abstract

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Orthodontic treatment for patients with Turner syndrome. Author(s): Russell KA. Source: American Journal of Orthodontics and Dentofacial Orthopedics : Official Publication of the American Association of Orthodontists, Its Constituent Societies, and the American Board of Orthodontics. 2001 September; 120(3): 314-22. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11552132&dopt=Abstract

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Osteoporosis and fractures in Turner syndrome-importance of growth promoting and oestrogen therapy. Author(s): Landin-Wilhelmsen K, Bryman I, Windh M, Wilhelmsen L. Source: Clinical Endocrinology. 1999 October; 51(4): 497-502. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10583318&dopt=Abstract

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Ovarian sex cord tumor with annular tubules in a patient with Turner syndrome. Author(s): Moon WS, Lee DG. Source: Journal of Korean Medical Science. 1998 February; 13(1): 89-94. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9539327&dopt=Abstract

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Parents' descriptions of development and problems associated with infants with Turner syndrome: a retrospective study. Author(s): Starke M, Albertsson Wikland K, Moller A. Source: Journal of Paediatrics and Child Health. 2003 May-June; 39(4): 293-8. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12755938&dopt=Abstract

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Parents' experiences of receiving the diagnosis of Turner syndrome: an explorative and retrospective study. Author(s): Starke M, Wikland KA, Moller A. Source: Patient Education and Counseling. 2002 August; 47(4): 347-54. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12135826&dopt=Abstract

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Parsonage-Turner syndrome after total-hip arthroplasty. Author(s): Simon JP, Fabry G. Source: The Journal of Arthroplasty. 2001 June; 16(4): 518-20. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11402420&dopt=Abstract

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Parsonage-Turner syndrome in the Native American Indian. Author(s): Auge WK 2nd, Velazquez PA. Source: Journal of Shoulder and Elbow Surgery / American Shoulder and Elbow Surgeons. [et Al.]. 2000 March-April; 9(2): 99-103. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10810688&dopt=Abstract

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Pelvic ultrasound evaluation in patients with Turner syndrome during treatment with growth hormone. Author(s): Sampaolo P, Calcaterra V, Klersy C, Alfei A, De Leonardis C, Maino M, Larizza D. Source: Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology. 2003 August; 22(2): 172-7. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12905513&dopt=Abstract

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Persistent cognitive deficits in adult women with Turner syndrome. Author(s): Ross JL, Stefanatos GA, Kushner H, Zinn A, Bondy C, Roeltgen D. Source: Neurology. 2002 January 22; 58(2): 218-25. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11805247&dopt=Abstract

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Persistent papilledema in Ullrich-Turner syndrome treated with growth hormone. Author(s): Bechtold S, Butenandt O, Meidert A, Boergen KP, Schmidt H. Source: Clinical Pediatrics. 2001 November; 40(11): 629-31. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11758965&dopt=Abstract

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Phenotypic effects of mosaicism for a 47,XXX cell line in Turner syndrome. Author(s): Sybert VP. Source: Journal of Medical Genetics. 2002 March; 39(3): 217-20. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11897829&dopt=Abstract

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Poor uterine development in Turner syndrome with oral oestrogen therapy. Author(s): Paterson WF, Hollman AS, Donaldson MD. Source: Clinical Endocrinology. 2002 March; 56(3): 359-65. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11940048&dopt=Abstract

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Psychosocial development in adolescents with Turner syndrome. Author(s): McCauley E, Feuillan P, Kushner H, Ross JL. Source: Journal of Developmental and Behavioral Pediatrics : Jdbp. 2001 December; 22(6): 360-5. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11773800&dopt=Abstract

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Quality of life in Turner syndrome is related to chromosomal constitution: implications for genetic counselling and management. Author(s): Skuse D, Elgar K, Morris E. Source: Acta Paediatrica (Oslo, Norway : 1992). Supplement. 1999 February; 88(428): 110-3. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10102067&dopt=Abstract

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Radiological signs of Leri-Weill dyschondrosteosis in Turner syndrome. Author(s): Binder G, Fritsch H, Schweizer R, Ranke MB. Source: Hormone Research. 2001; 55(2): 71-6. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11509862&dopt=Abstract

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Recombinant growth hormone in children and adolescents with Turner syndrome. Author(s): Cave CB, Bryant J, Milne R. Source: Cochrane Database Syst Rev. 2003; (3): Cd003887. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12917993&dopt=Abstract

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Recommendations for the diagnosis and management of Turner syndrome. Author(s): Saenger P, Wikland KA, Conway GS, Davenport M, Gravholt CH, Hintz R, Hovatta O, Hultcrantz M, Landin-Wilhelmsen K, Lin A, Lippe B, Pasquino AM, Ranke MB, Rosenfeld R, Silberbach M; Fifth International Symposium on Turner Syndrome. Source: The Journal of Clinical Endocrinology and Metabolism. 2001 July; 86(7): 3061-9. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11443168&dopt=Abstract

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Reduced androgen levels in adult turner syndrome: influence of female sex steroids and growth hormone status. Author(s): Hojbjerg Gravholt C, Svenstrup B, Bennett P, Sandahl Christiansen J. Source: Clinical Endocrinology. 1999 June; 50(6): 791-800. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10468952&dopt=Abstract

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Reduced free IGF-I and increased IGFBP-3 proteolysis in Turner syndrome: modulation by female sex steroids. Author(s): Gravholt CH, Frystyk J, Flyvbjerg A, Orskov H, Christiansen JS. Source: American Journal of Physiology. Endocrinology and Metabolism. 2001 February; 280(2): E308-14. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11158935&dopt=Abstract

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Reduced growth hormone secretion in Turner syndrome: is body weight a key factor? Author(s): Cianfarani S, Vaccaro F, Pasquino AM, Marchione SA, Passeri F, Spadoni GL, Bernardini S, Spagnoli A, Boscherini B. Source: Hormone Research. 1994; 41(1): 27-32. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8013939&dopt=Abstract

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Reference values for body proportions and body composition in adult women with Ullrich-Turner syndrome. Author(s): Hojbjerg Gravholt C, Weis Naeraa R. Source: American Journal of Medical Genetics. 1997 November 12; 72(4): 403-8. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9375721&dopt=Abstract

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Relatively longer hand in patients with Ullrich-Turner syndrome. Author(s): Uematsu A, Yorifuji T, Muroi J, Yamanaka C, Momoi T. Source: American Journal of Medical Genetics. 1999 January 29; 82(3): 254-6. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10215550&dopt=Abstract

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Risk of death in pregnancy achieved through oocyte donation in patients with Turner syndrome: a national survey. Author(s): Karnis MF, Zimon AE, Lalwani SI, Timmreck LS, Klipstein S, Reindollar RH. Source: Fertility and Sterility. 2003 September; 80(3): 498-501. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12969688&dopt=Abstract

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Role of oestrogen therapy in the management of short stature in Turner syndrome. Author(s): Chernausek SD, Attie KM. Source: Acta Paediatrica (Oslo, Norway : 1992). Supplement. 1999 December; 88(433): 130-2. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10626564&dopt=Abstract

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Screening girls with Turner syndrome: the National Cooperative Growth Study experience. Author(s): Parker KL, Wyatt DT, Blethen SL, Baptista J, Price L. Source: The Journal of Pediatrics. 2003 July; 143(1): 133-5. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12915841&dopt=Abstract

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Screening of patients with Turner syndrome for “hidden” Y-mosaicism. Author(s): Vlasak I, Plochl E, Kronberger G, Bergendi E, Rittinger O, Hagemann M, Schmitt K, Blumel P, Glatzl J, Fekete G, Kadrnka-Lovrencic M, Borkenstein M, Hausler G, Frisch H. Source: Klinische Padiatrie. 1999 January-February; 211(1): 30-4. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10067216&dopt=Abstract

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Second-trimester maternal serum progesterone levels in Turner syndrome with and without hydrops and in trisomy 18. Author(s): Lambert-Messerlian GM, Saller DN Jr, Tumber MB, French CA, Peterson CJ, Canick JA. Source: Prenatal Diagnosis. 1999 May; 19(5): 476-9. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10360519&dopt=Abstract

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Serum liver enzymes in Turner syndrome. Author(s): Larizza D, Locatelli M, Vitali L, Vigano C, Calcaterra V, Tinelli C, Sommaruga MG, Bozzini A, Campani R, Severi F. Source: European Journal of Pediatrics. 2000 March; 159(3): 143-8. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10664223&dopt=Abstract

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Short-term growth hormone treatment in girls with Turner syndrome decreases fat mass and insulin sensitivity: a randomized, double-blind, placebo-controlled, crossover study. Author(s): Gravholt CH, Naeraa RW, Brixen K, Kastrup KW, Mosekilde L, Jorgensen JO, Christiansen JS. Source: Pediatrics. 2002 November; 110(5): 889-96. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12415026&dopt=Abstract

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Skeletal features and growth patterns in 14 patients with haploinsufficiency of SHOX: implications for the development of Turner syndrome. Author(s): Kosho T, Muroya K, Nagai T, Fujimoto M, Yokoya S, Sakamoto H, Hirano T, Terasaki H, Ohashi H, Nishimura G, Sato S, Matsuo N, Ogata T. Source: The Journal of Clinical Endocrinology and Metabolism. 1999 December; 84(12): 4613-21. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10599728&dopt=Abstract

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Slow motor performance in girls with Turner Syndrome is not related to increased neuromotor noise. Author(s): Nijhuis-Van der Sanden MW, Van Asseldonk EH, Eling PA, Van Galen GP. Source: Motor Control. 2003 April; 7(2): 111-33. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=13679626&dopt=Abstract

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Social, communicational, and behavioral deficits associated with ring X turner syndrome. Author(s): El Abd S, Patton MA, Turk J, Hoey H, Howlin P. Source: American Journal of Medical Genetics. 1999 October 15; 88(5): 510-6. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10490708&dopt=Abstract

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Spontaneous, but not induced, puberty permits adequate bone mass acquisition in adolescent Turner syndrome patients. Author(s): Carrascosa A, Gussinye M, Terradas P, Yeste D, Audi L, Vicens-Calvet E. Source: Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research. 2000 October; 15(10): 2005-10. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11028454&dopt=Abstract

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Supernumerary chromosomes in mosaic Turner syndrome. Author(s): Thong MK, Manonmani V, Norlasiah IS. Source: Med J Malaysia. 1996 December; 51(4): 487-90. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10968041&dopt=Abstract

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The influence of renal and cardiovascular abnormalities on blood pressure in Turner syndrome. Author(s): Nathwani NC, Unwin R, Brook CG, Hindmarsh PC. Source: Clinical Endocrinology. 2000 March; 52(3): 371-7. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10718836&dopt=Abstract

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The Leri-Weill and Turner syndrome homeobox gene SHOX encodes a cell-type specific transcriptional activator. Author(s): Rao E, Blaschke RJ, Marchini A, Niesler B, Burnett M, Rappold GA. Source: Human Molecular Genetics. 2001 December 15; 10(26): 3083-91. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11751690&dopt=Abstract

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The prenatal cranial base complex and hand in Turner syndrome. Author(s): Andersen E, Sonnesen L, Kjaer MS, Fischer Hansen B, Kjaer I. Source: European Journal of Orthodontics. 2000 April; 22(2): 185-94. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10822892&dopt=Abstract

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The short stature homeobox gene SHOX is involved in skeletal abnormalities in Turner syndrome. Author(s): Clement-Jones M, Schiller S, Rao E, Blaschke RJ, Zuniga A, Zeller R, Robson SC, Binder G, Glass I, Strachan T, Lindsay S, Rappold GA. Source: Human Molecular Genetics. 2000 March 22; 9(5): 695-702. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10749976&dopt=Abstract

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Turner syndrome (45x) with clitoromegaly. Author(s): Haddad NG, Vance GH, Eugster EA, Davis MM, Kaefer M. Source: The Journal of Urology. 2003 October; 170(4 Pt 1): 1355-6. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=14501769&dopt=Abstract

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Turner syndrome and Xp deletions: clinical and molecular studies in 47 patients. Author(s): Ogata T, Muroya K, Matsuo N, Shinohara O, Yorifuji T, Nishi Y, Hasegawa Y, Horikawa R, Tachibana K. Source: The Journal of Clinical Endocrinology and Metabolism. 2001 November; 86(11): 5498-508. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11701728&dopt=Abstract

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Turner syndrome associated with acquired von Willebrand disease, primary biliary cirrhosis, and inflammatory bowel disease. Author(s): Sokol L, Stueben ET, Jaikishen JP, Lamarche MB. Source: American Journal of Hematology. 2002 July; 70(3): 257-9. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12116986&dopt=Abstract

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Turner syndrome in adolescence. Author(s): Karnis MF, Reindollar RH. Source: Obstetrics and Gynecology Clinics of North America. 2003 June; 30(2): 303-20. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12836722&dopt=Abstract

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Turner syndrome with pseudodicentric Y chromosome mosaicism. Author(s): Hsieh YY, Lin WC, Chang CC, Tsai FJ, Yu MT, Tsai HD, Tsai CH. Source: Journal of Assisted Reproduction and Genetics. 2002 June; 19(6): 302-3. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12166638&dopt=Abstract

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Turner syndrome. Author(s): Cunniff C. Source: Adolescent Medicine (Philadelphia, Pa.). 2002 June; 13(2): 359-66, Viii. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11986042&dopt=Abstract

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Ullrich-Turner syndrome and neurofibromatosis-1. Author(s): Schorry EK, Lovell AM, Milatovich A, Saal HM. Source: American Journal of Medical Genetics. 1996 December 30; 66(4): 423-5. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8989459&dopt=Abstract

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Ullrich-Turner syndrome is not caused by haploinsufficiency of RPS4X. Author(s): Geerkens C, Just W, Held KR, Vogel W. Source: Human Genetics. 1996 January; 97(1): 39-44. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8557258&dopt=Abstract

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Ullrich-Turner syndrome with a small ring X chromosome and presence of mental retardation. Author(s): Van Dyke DL, Wiktor A, Palmer CG, Miller DA, Witt M, Babu VR, Worsham MJ, Roberson JR, Weiss L. Source: American Journal of Medical Genetics. 1992 August 1; 43(6): 996-1005. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1415351&dopt=Abstract

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Ullrich-Turner syndrome with unilateral agenesis of breast, nipple, and pectoralis major. Author(s): Cohen A, Lavagetto A, Romano C. Source: American Journal of Medical Genetics. 1992 September 1; 44(1): 11-2. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1519640&dopt=Abstract

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Ullrich-Turner syndrome: neurodevelopmental changes from childhood through adolescence. Author(s): Ross JL, Stefanatos G, Roeltgen D, Kushner H, Cutler GB Jr. Source: American Journal of Medical Genetics. 1995 July 31; 58(1): 74-82. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7573160&dopt=Abstract

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Ullrich-Turner syndrome: relevance of searching for Y chromosome fragments. Author(s): Damiani D, Guedes DR, Fellous M, Barbaux S, McElreavey K, Kalil J, Goldberg AC, Moreira-Filho CA, Barbosa A, Della Manna T, Dichtchekenian V, Setian N. Source: J Pediatr Endocrinol Metab. 1999 November-December; 12(6): 827-31. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10614539&dopt=Abstract

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Ullrich-Turner syndrome: seven pregnancies in an apparent 45,X woman. Author(s): Magee AC, Nevin NC, Armstrong MJ, McGibbon D, Nevin J. Source: American Journal of Medical Genetics. 1998 January 6; 75(1): 1-3. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9450847&dopt=Abstract

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Uniparental and functional X disomy in Turner syndrome patients with unexplained mental retardation and X derived marker chromosomes. Author(s): Yorifuji T, Muroi J, Kawai M, Uematsu A, Sasaki H, Momoi T, Kaji M, Yamanaka C, Furusho K. Source: Journal of Medical Genetics. 1998 July; 35(7): 539-44. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9678697&dopt=Abstract

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Unique unbalanced X;X translocation (Xq22;p11.2) in a woman with primary amenorrhea but without Ullrich-Turner syndrome. Author(s): Letterie GS. Source: American Journal of Medical Genetics. 1995 December 4; 59(4): 414-6. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8585557&dopt=Abstract

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Use of estrogen in young girls with Turner syndrome: effects on memory. Author(s): Ross JL, Roeltgen D, Feuillan P, Kushner H, Cutler GB Jr. Source: Neurology. 2000 January 11; 54(1): 164-70. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10636143&dopt=Abstract

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Validity of height velocity as a diagnostic criterion for idiopathic growth hormone deficiency and Turner syndrome. Author(s): Van den Broeck J, Hokken-Koelega A, Wit J. Source: Hormone Research. 1999; 51(2): 68-73. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10352395&dopt=Abstract

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Variable X chromosomal abnormalities in patients with stigmata of Turner syndrome. Author(s): Verma RS, Khan F, Dosik H. Source: International Journal of Gynaecology and Obstetrics: the Official Organ of the International Federation of Gynaecology and Obstetrics. 1979 November-December; 17(3): 234-42. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=42576&dopt=Abstract

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Virilization in Turner syndrome. Author(s): Fayez JA, Jonas HS. Source: Obstetrics and Gynecology. 1978 October; 52(4): 490-2. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=714334&dopt=Abstract

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Visual integration difficulties in a 9-year-old girl with Turner syndrome: parallel verbal disabilities? Author(s): Hepworth SL, Rovet JF. Source: Neuropsychology, Development, and Cognition. Section C, Child Neuropsychology : a Journal on Normal and Abnormal Development in Childhood and Adolescence. 2000 December; 6(4): 262-73. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11992190&dopt=Abstract

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Web neck deformity in Turner syndrome. Author(s): Gargan TJ. Source: Plastic and Reconstructive Surgery. 1997 March; 99(3): 871-4. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9047211&dopt=Abstract

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What is your assessment? Turner syndrome. Author(s): Belkengren R, Sapala S. Source: Pediatric Nursing. 1995 January-February; 21(1): 76-7. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7715975&dopt=Abstract

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What's best for the bones in Turner syndrome? Author(s): Hindmarsh PC. Source: Clinical Endocrinology. 2000 May; 52(5): 529-30. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10792329&dopt=Abstract

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Women with Turner syndrome: psychological well-being, self-rated health and social life. Author(s): Boman UW, Bryman I, Halling K, Moller A. Source: Journal of Psychosomatic Obstetrics and Gynaecology. 2001 June; 22(2): 113-22. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11446152&dopt=Abstract

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X chromosome instability associated with familial Turner syndrome. Author(s): Tyrkus M, Hoffman WH, Kraemer-Flynn KM. Source: Clinical Genetics. 1989 February; 35(2): 111-5. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=2721019&dopt=Abstract

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X microchromosome with additional chromosome anomalies found in Ullrich-Turner syndrome. Author(s): Wydner KL, Li M, Singer-Granick C, Sciorra LJ, Krueger LJ. Source: American Journal of Medical Genetics. 1995 March 27; 56(2): 141-6. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7625435&dopt=Abstract

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X-inactivation and cytogenetic studies in a family with sensorineural hearing loss and Turner syndrome. Author(s): Sculerati N, Perle MA, Oddoux C, Clayton CM, Ostrer H. Source: Otolaryngology and Head and Neck Surgery. 1997 December; 117(6): S221-5. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9419154&dopt=Abstract

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X-inactivation pattern in an Ullrich-Turner syndrome patient with a small ring X and normal intelligence. Author(s): Zenger-Hain JL, Wiktor A, Goldman J, Van Dyke DL, Weiss L. Source: American Journal of Medical Genetics. 1993 September 15; 47(4): 490-3. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8256812&dopt=Abstract

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X-to-X translocation associated with gonadal dysgenesis and discrete Turner syndrome stigmata; a case report. Author(s): Kleczkowska A, Fryns JP, Van den Berghe H. Source: European Journal of Obstetrics, Gynecology, and Reproductive Biology. 1989 September; 32(3): 275-9. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=2792547&dopt=Abstract

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Y chromosome mosaicism in 45,X Turner syndrome. Author(s): Ostrer H, Clayton CM. Source: American Journal of Medical Genetics. 1989 October; 34(2): 294-6. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=2817013&dopt=Abstract

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CHAPTER 2. NUTRITION AND TURNER SYNDROME Overview In this chapter, we will show you how to find studies dedicated specifically to nutrition and Turner syndrome.

Finding Nutrition Studies on Turner Syndrome The National Institutes of Health’s Office of Dietary Supplements (ODS) offers a searchable bibliographic database called the IBIDS (International Bibliographic Information on Dietary Supplements; National Institutes of Health, Building 31, Room 1B29, 31 Center Drive, MSC 2086, Bethesda, Maryland 20892-2086, Tel: 301-435-2920, Fax: 301-480-1845, E-mail: [email protected]). The IBIDS contains over 460,000 scientific citations and summaries about dietary supplements and nutrition as well as references to published international, scientific literature on dietary supplements such as vitamins, minerals, and botanicals.4 The IBIDS includes references and citations to both human and animal research studies. As a service of the ODS, access to the IBIDS database is available free of charge at the following Web address: http://ods.od.nih.gov/databases/ibids.html. After entering the search area, you have three choices: (1) IBIDS Consumer Database, (2) Full IBIDS Database, or (3) Peer Reviewed Citations Only. Now that you have selected a database, click on the “Advanced” tab. An advanced search allows you to retrieve up to 100 fully explained references in a comprehensive format. Type “Turner syndrome” (or synonyms) into the search box, and click “Go.” To narrow the search, you can also select the “Title” field.

4 Adapted from http://ods.od.nih.gov. IBIDS is produced by the Office of Dietary Supplements (ODS) at the National Institutes of Health to assist the public, healthcare providers, educators, and researchers in locating credible, scientific information on dietary supplements. IBIDS was developed and will be maintained through an interagency partnership with the Food and Nutrition Information Center of the National Agricultural Library, U.S. Department of Agriculture.

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The following information is typical of that found when using the “Full IBIDS Database” to search for “Turner syndrome” (or a synonym): •

A decade of growth hormone treatment in girls with Turner syndrome in the UK. UK KIGS Executive Group. Author(s): Southampton General Hospital, UK. Source: Betts, P R Butler, G E Donaldson, M D Dunger, D B Johnston, D I Kelnar, C J Kirk, J Price, D A Wilton, P Arch-Dis-Child. 1999 March; 80(3): 221-5 0003-9888

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Acceleration of growth in Turner syndrome patients treated with growth hormone: summary of three-year results. Author(s): Department of Pediatrics, Stanford University School of Medicine, CA 94305. Source: Rosenfeld, R G J-Endocrinol-Invest. 1989; 12(8 Suppl 3): 49-51 0391-4097

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Adult height after GH therapy in 188 Ullrich-Turner syndrome patients: results of the German IGLU Follow-up Study 2001. Author(s): Paediatric Endocrinology Section, University Children's Hospital, Tubingen, Germany. [email protected] Source: Ranke, M B Partsch, C J Lindberg, A Dorr, H G Bettendorf, M Hauffa, B P Schwarz, H P Mehls, O Sander, S Stahnke, N Steinkamp, H Said, E Sippell, W Eur-JEndocrinol. 2002 November; 147(5): 625-33 0804-4643

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Adult height in girls with Turner syndrome treated with low-dose estrogens and androgens. Author(s): Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030. Source: Lin, T H Kirkland, R T Kirkland, J L Ann-Pharmacother. 1994 May; 28(5): 570-1 1060-0280

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Aspects of the treatment of Turner syndrome. Author(s): Medical Department M (Endocrinology and Diabetes) and Medcal Research Laboratories, Aarhus Kommunehospital, Aarhus University Hospital, Aarhus, Denmark. [email protected] Source: Gravholt, C H Expert-Opin-Pharmacother. 2001 October; 2(10): 1633-47 14656566

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Blood pressure and Turner syndrome. Author(s): The London Centre for Paediatric Endocrinology, University College London, London, UK. [email protected] Source: Nathwani, N C Unwin, R Brook, C G Hindmarsh, P C Clin-Endocrinol-(Oxf). 2000 Mar; 52(3): 363-70 0300-0664

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Body mass index (BMI) in Turner Syndrome before and during growth hormone (GH) therapy. Author(s): Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73190, USA. [email protected] Source: Blackett, P R Rundle, A C Frane, J Blethen, S L Int-J-Obes-Relat-Metab-Disord. 2000 February; 24(2): 232-5 0307-0565

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Body proportions during long-term growth hormone treatment in girls with Turner syndrome participating in a randomized dose-response trial. Author(s): Department of Pediatrics, Sophia Children's Hospital, Rotterdam, The Netherlands. Source: Sas, T C Gerver, W J de Bruin, R Stijnen, T de Muinck Keizer Schrama, S M Cole, T J van Teunenbroek, A Drop, S L J-Clin-Endocrinol-Metab. 1999 December; 84(12): 4622-8 0021-972X

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Carbohydrate and lipid metabolism during various growth hormone dosing regimens in girls with Turner syndrome. Dutch Working Group on Growth Hormone. Author(s): Department of Pediatrics, Erasmus University and University Hospital/Sophia Children's Hospital, Rotterdam, The Netherlands. Source: van Teunenbroek, A de Muinck Keizer Schrama, S M Aanstoot, H J Stijnen, T Hoogerbrugge, N Drop, S L Metabolism. 1999 January; 48(1): 7-14 0026-0495

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Carbohydrate metabolism during growth hormone treatment and after discontinuation of growth hormone treatment in girls with Turner syndrome treated with once or twice daily growth hormone injections. Author(s): Department of Paediatrics, Sophia Children's Hospital, The Netherlands. Source: Sas, T de Muinck Keizer Schrama, S Aanstoot, H J Stijnen, T Drop, S ClinEndocrinol-(Oxf). 2000 June; 52(6): 741-7 0300-0664

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Celiac disease and Turner syndrome. Author(s): Department of Pediatrics, University La Sapienza, Rome, Italy. Source: Bonamico, M Bottaro, G Pasquino, A M Caruso Nicoletti, M Mariani, P Gemme, G Paradiso, E Ragusa, M C Spina, M J-Pediatr-Gastroenterol-Nutr. 1998 May; 26(5): 4969 0277-2116

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Cognitive and behavioral characteristics of turner syndrome: exploring a role for ovarian hormones in female sexual differentiation. Author(s): University of California, Los Angeles, California 90095, USA. [email protected] Source: Collaer, Marcia L Geffner, Mitchell E Kaufman, Francine R Buckingham, Bruce Hines, Melissa Horm-Behavolume 2002 Mar; 41(2): 139-55 0018-506X

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Combination growth hormone and estrogen increase bone mineralization in girls with Turner syndrome. Author(s): Department of Pediatrics, Texas Children's Hospital, Houston 77030, USA. Source: Beckett, P R Copeland, K C Flannery, T K Sherman, L D Abrams, S A PediatrRes. 1999 May; 45(5 Pt 1): 709-13 0031-3998

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Current concepts in the treatment of Turner syndrome with special reference to the treatment of short stature. Author(s): University Children's Hospital, Tubingen, FRG. Source: Ranke, M B Acta-Paediatr-Jpn. 1992 April; 34(2): 183-92; discussion 192-4 03745600

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Effect of growth hormone and oxandrolone treatment on glucose metabolism in Turner syndrome. A longitudinal study. Author(s): Division of Paediatric Endocrinology, University Children's Hospital, Berne, Switzerland. Source: Joss, E E Zurbrugg, R P Tonz, O Mullis, P E Horm-Res. 2000; 53(1): 1-8 0301-0163

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Effects of long-term growth hormone therapy on adrenal steroidogenesis in Turner syndrome. Author(s): Department of Public Health and Cellular Biology, University Tor Vergata, Rome, Italy. Source: Balducci, R Toscano, V Larizza, D Mangiantini, A Galasso, C Municchi, G Di Rito, A Picone, S Boscherini, B Horm-Res. 1998; 49(5): 210-5 0301-0163

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Favorable final height outcome in girls with Ullrich-Turner syndrome treated with low-dose growth hormone together with oxandrolone despite starting treatment after 10 years of age. Author(s): University Hospital, Department of Pediatrics, Hamburg, Germany. [email protected]

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Source: Stahnke, N Keller, E Landy, H J-Pediatr-Endocrinol-Metab. 2002 February; 15(2): 129-38 •

Final height after long-term growth hormone treatment in Thai children with Turner syndrome. Author(s): Department of Pediatrics, Ramathibodi Hospital, Faculty of Medicine, Mahidol University, Bangkok, Thailand. Source: Mahachoklertwattana, P Preeyasombat, C Choubtum, L Sriphrapradang, A Horm-Res. 1998; 49 Suppl 155 0301-0163

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Final height in young women with Turner syndrome after GH therapy: an open controlled study. Author(s): Department of Pediatrics, Rambam Medical Center, Haifa, Israel. Source: Hochberg, Z Zadik, Z Eur-J-Endocrinol. 1999 September; 141(3): 218-24 08044643

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Final height of patients with Turner's syndrome treated with growth hormone (GH): indications for GH therapy alone at high doses and late estrogen therapy. Italian Study Group for Turner Syndrome. Author(s): Department of Pediatrics, University of Bologna, Italy. [email protected] Source: Cacciari, E Mazzanti, L J-Clin-Endocrinol-Metab. 1999 December; 84(12): 4510-5 0021-972X

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Final height outcome in girls with Turner syndrome treated with a combination of low dose oestrogen and oxandrolone. Author(s): Medical Unit, Institute of Child Health, London, UK. Source: Bareille, P Massarano, A A Stanhope, R Eur-J-Pediatr. 1997 May; 156(5): 358-62 0340-6199

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Gender-specific differences of serum leptin in obese and normal-weight adolescents: studies in type-I diabetes and Turner syndrome. Author(s): Abteilung fur Allgemeine Padiatrie, Kliniken fur Kinderheilkunde und Kinderchirurgie, Charite-Virchow-Klinikum, Berlin, Deutschland. [email protected] Source: Danne, T Gruters, A Wladimirova, A Weber, B Horn, R Mayr, B Brabant, G Horm-Res. 1997; 48(3): 103-7 0301-0163

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GH assessment and three years' hGH therapy in girls with Turner syndrome. Author(s): Department of Pediatrics, La Sapienza University, Rome, Italy. Source: Pasquino, A M Bernardini, S Cianfarani, S Mancuso, G Marchione, S A Passeri, F Pucarelli, I Spadoni, G L Horm-Res. 1992; 38(3-4): 120-4 0301-0163

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Growth hormone and low dose estrogen in Turner syndrome: results of a United States multi-center trial to near-final height. Author(s): Eli Lilly & Co., Indianapolis, Indiana 46285, USA. [email protected] Source: Quigley, Charmian A Crowe, Brenda J Anglin, D Greg Chipman, John J J-ClinEndocrinol-Metab. 2002 May; 87(5): 2033-41 0021-972X

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Growth hormone therapy in girls with Turner syndrome. Author(s): Department of Pediatrics & Child Health, University of Manitoba, Winnipeg, Canada. Source: Dean, H Birth-Defects-Orig-Artic-Ser. 1990; 26(4): 229-34 0547-6844

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Growth hormone treatment in Turner syndrome accelerates growth and skeletal maturation. Dutch Growth Hormone Working Group. Author(s): Department of Paediatrics, University of Utrecht, The Netherlands.

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Source: Rongen Westerlaken, C Wit, J M De Muinck Keizer Schrama, S M Otten, B J Oostdijk, W Delemarre van der Waal, H A Gons, M H Bot, A Van den Brande, J L Eur-JPediatr. 1992 July; 151(7): 477-81 0340-6199 •

Growth of Argentinian girls with Turner syndrome. Author(s): Hospital de Ninos Ricardo Gutierrez, Buenos Aires, Argentina. Source: Garcia Rudaz, C Martinez, A S Heinrich, J J Lejarraga, H Keselman, A Laspiur, M Bergada, C Ann-Hum-Biol. 1995 Nov-December; 22(6): 533-44 0301-4460

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Growth response and final height in Turner syndrome after combination therapy of growth hormone and anabolic steroid. Author(s): Department of Pediatrics, Taichung Veterans General Hospital, 160, Sec. 3, Chung-Kang Road, Taichung, Taiwan. [email protected] Source: Shu, S G Acta-Paediatr-Taiwan. 2000 Nov-December; 41(6): 322-6

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Growth response in Turner syndrome with recombinant human growth hormone therapy. Author(s): Department of Pediatrics, Siriraj Hospital, Vajira Hospital, Bangkok, Thailand. Source: Tuchinda, C Angsusingha, K Punnakanta, L Likitmaskul, S Wacharasindhu, S Tuanakitcharu, K Pitukcheewanont, P Southeast-Asian-J-Trop-Med-Public-Health. 1995; 26 Suppl 1142-5 0038-3619

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Increased disorderliness and decreased mass and daily rate of endogenous growth hormone secretion in adult Turner syndrome: the impact of body composition, maximal oxygen uptake and treatment with sex hormones. Author(s): Medical department M (Endocrinology and Diabetes) and Medical Research Laboratories, Aarhus University Hospital, Denmark. [email protected] Source: Gravholt, C H Veldhuis, J D Christiansen, J S Growth-Horm-IGF-Res. 1998 August; 8(4): 289-98 1096-6374

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Long-term results of growth hormone therapy in Turner syndrome. Author(s): University Children's Hospital, Department of Pediatrics, Munster, Germany. [email protected] Source: Bramswig, J H Endocrine. 2001 June; 15(1): 5-13 0969-711X

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Marked disproportionality in bone size and mineral, and distinct abnormalities in bone markers and calcitropic hormones in adult turner syndrome: a cross-sectional study. Author(s): Medical Department M (Endocrinology and Diabetes), Aarhus Kommunehospital, Aarhus University Hospital, DK-8000 Aarhus C, Denmark. [email protected] Source: Gravholt, Claus Hojbjerg Lauridsen, Anna Lis Brixen, Kim Mosekilde, Leif Heickendorff, Lene Christiansen, Jens Sandahl J-Clin-Endocrinol-Metab. 2002 June; 87(6): 2798-808 0021-972X

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Molecular genetics of Turner syndrome: correlation with clinical phenotype and response to growth hormone therapy. Author(s): 2nd Department of Pediatrics, University of Athens, Greece. Source: Tsezou, A Hadjiathanasiou, C Gourgiotis, D Galla, A Kavazarakis, E Pasparaki, A Kapsetaki, M Sismani, C Theodoridis, C Patsalis, P C Moschonas, N Kitsiou, S ClinGenet. 1999 December; 56(6): 441-6 0009-9163

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Morning versus evening administration of estradiol to girls with turner syndrome receiving growth hormone: impact on growth hormone and metabolism. A randomized placebo-controlled crossover study. Author(s): Medical Department M (Endocrinology and Diabetes), Arhus Kommunehospital, Arhus University Hospital, Denmark. [email protected] Source: Naeraa, R W Gravholt, C H Kastrup, K W Svenstrup, B Christiansen, J S ActaPaediatr. 2001 May; 90(5): 526-31 0803-5253

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Musculoskeletal analyses of the forearm in young women with Turner syndrome: a study using peripheral quantitative computed tomography. Author(s): Children's Hospital, Dr. V. Haunersches Kinderspital, Ludwig-Maximilians University of Munich, 80337 Munich, Germany. [email protected] Source: Bechtold, S Rauch, F Noelle, V Donhauser, S Neu, C M Schoenau, E Schwarz, H P J-Clin-Endocrinol-Metab. 2001 December; 86(12): 5819-23 0021-972X

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Normalization of height in girls with Turner syndrome after long-term growth hormone treatment: results of a randomized dose-response trial. Author(s): Department of Pediatrics, Sophia Children's Hospital, Rotterdam, The Netherlands. [email protected] Source: Sas, T C de Muinck Keizer Schrama, S M Stijnen, T Jansen, M Otten, B J Hoorweg Nijman, J J Vulsma, T Massa, G G Rouwe, C W Reeser, H M Gerver, W J Gosen, J J Rongen Westerlaken, C Drop, S L J-Clin-Endocrinol-Metab. 1999 December; 84(12): 4607-12 0021-972X

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Optimizing estrogen replacement in adolescents with Turner syndrome. Author(s): University of Chicago, Department of Pediatrics, Illinois 60637-1470, USA. [email protected] Source: Rosenfield, R L Perovic, N Devine, N Ann-N-Y-Acad-Sci. 2000; 900213-4 00778923

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Osteoporosis and fractures in Turner syndrome-importance of growth promoting and oestrogen therapy. Author(s): Research Centre for Endocrinology and Metabolism, Sahlgrenska University Hospital, Goteborg, Sweden. [email protected] Source: Landin Wilhelmsen, K Bryman, I Windh, M Wilhelmsen, L Clin-Endocrinol(Oxf). 1999 October; 51(4): 497-502 0300-0664

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Persistent papilledema in Ullrich-Turner syndrome treated with growth hormone. Author(s): University Children's Hospital, Endocrine Division, Munich, Germany. Source: Bechtold, S Butenandt, O Meidert, A Boergen, K P Schmidt, H Clin-Pediatr(Phila). 2001 November; 40(11): 629-31 0009-9228

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Poor uterine development in Turner syndrome with oral oestrogen therapy. Author(s): Department of Child Health, Royal Hospital for Sick Children, Yorkhill, Glasgow, Scotland, UK. [email protected] Source: Paterson, W F Hollman, A S Donaldson, M D Clin-Endocrinol-(Oxf). 2002 March; 56(3): 359-65 0300-0664

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Predicting the response to recombinant human growth hormone in Turner syndrome: KIGS models. KIGS International Board. Kabi International Growth Study. Author(s): Paediatric Endocrinology Section, University Children's Hospital, Tubingen, Germany. [email protected] Source: Ranke, M B Lindberg, A Chatelain, P Wilton, P Cutfield, W Albertsson Wikland, K Price, D A Acta-Paediatr-Suppl. 1999 December; 88(433): 122-5 0803-5326

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Radiological signs of Leri-Weill dyschondrosteosis in Turner syndrome. Author(s): University Children's Hospital and Growth Research Center, Tubingen, Germany. [email protected] Source: Binder, G Fritsch, H Schweizer, R Ranke, M B Horm-Res. 2001; 55(2): 71-6 03010163

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Reduced androgen levels in adult turner syndrome: influence of female sex steroids and growth hormone status. Author(s): Medical department M (Endocrinology and Diabetes) and Medical Research Laboratories, Aarhus University Hospital, Aarhus, Denmark. Source: Hojbjerg Gravholt, C Svenstrup, B Bennett, P Sandahl Christiansen, J ClinEndocrinol-(Oxf). 1999 June; 50(6): 791-800 0300-0664

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Reduced free IGF-I and increased IGFBP-3 proteolysis in Turner syndrome: modulation by female sex steroids. Author(s): Medical Department M (Endocrinology and Diabetes) and Medical Research Laboratories, Aarhus University Hospital, DK-8000 Aarhus C, Denmark. [email protected] Source: Gravholt, C H Frystyk, J Flyvbjerg, A Orskov, H Christiansen, J S Am-J-PhysiolEndocrinol-Metab. 2001 February; 280(2): E308-14 0193-1849

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Role of oestrogen therapy in the management of short stature in Turner syndrome. Author(s): Division of Endocrinology, Children's Hospital Medical Center, Cincinnati, Ohio 45229, USA. [email protected] Source: Chernausek, S D Attie, K M Acta-Paediatr-Suppl. 1999 December; 88(433): 130-2 0803-5326

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Six-year results of a randomized, prospective trial of human growth hormone and oxandrolone in Turner syndrome. Author(s): Stanford University, California 94305. Source: Rosenfeld, R G Frane, J Attie, K M Brasel, J A Burstein, S Cara, J F Chernausek, S Gotlin, R W Kuntze, J Lippe, B M et al. J-Pediatr. 1992 July; 121(1): 49-55 0022-3476

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Skeletal maturity, dental maturity, and eruption in young patients with Turner syndrome. Author(s): Department of Orthodontics and Facial Orthopedics, School of Dentistry, University of Bergen, Norway. Source: Midtbo, M Halse, A Acta-Odontol-Scand. 1992 October; 50(5): 303-12 0001-6357

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Slipped capital femoral epiphysis during treatment with recombinant human growth hormone for Turner syndrome. Author(s): Department of Orthopaedic Surgery, Nagoya University School of Medicine, Japan. Source: Sakano, S Yoshihashi, Y Miura, T Arch-Orthop-Trauma-Surg. 1995; 114(4): 237-8 0936-8051

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Spontaneous, but not induced, puberty permits adequate bone mass acquisition in adolescent Turner syndrome patients. Author(s): Children's Hospital Vall d'Hebron, Autonomous University, Barcelona, Spain. Source: Carrascosa, A Gussinye, M Terradas, P Yeste, D Audi, L Vicens Calvet, E J-BoneMiner-Res. 2000 October; 15(10): 2005-10 0884-0431

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The effect of growth hormone on craniofacial growth and dental maturation in Turner syndrome. Author(s): Arkansas Children's Hospital and Department of Surgery, University of Arkansas Medical Services, Little Rock, USA. Source: Hass, A D Simmons, K E Davenport, M L Proffit, W R Angle-Orthod. 2001 February; 71(1): 50-9 0003-3219

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The growth pattern and final height of girls with Turner syndrome with and without human growth hormone treatment. Author(s): First Pediatric Department, Athens University, Medical School, “Aghia Sophia” Children's Hospital, Athens, Greece. Source: Dacou Voutetakis, C Karavanaki Karanassiou, K Petrou, V Georgopoulos, N Maniati Christidi, M Mavrou, A Pediatrics. 1998 April; 101(4 Pt 1): 663-8 0031-4005

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The influence of renal and cardiovascular abnormalities on blood pressure in Turner syndrome. Author(s): The London Centre for Paediatric Endocrinology, University College London, UK. [email protected] Source: Nathwani, N C Unwin, R Brook, C G Hindmarsh, P C Clin-Endocrinol-(Oxf). 2000 Mar; 52(3): 371-7 0300-0664

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The psychological consequences of Turner syndrome and review of the National Cooperative Growth Study psychological substudy. Author(s): Department of Psychiatry and Behavioral Neurosciences, Wayne State University School of Medicine, Detroit, Michigan, USA. Source: Siegel, P T Clopper, R Stabler, B Pediatrics. 1998 August; 102(2 Pt 3): 488-91 0031-4005

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Turner syndrome and osteoporosis: mechanisms and prognosis. Author(s): Department of Pediatric Endocrinology and Diabetes, Connecticut Children's Medical Center, Hartford, Connecticut 06106, USA. Source: Rubin, K Pediatrics. 1998 August; 102(2 Pt 3): 481-5 0031-4005

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Turner syndrome associated with acquired von Willebrand disease, primary biliary cirrhosis, and inflammatory bowel disease. Author(s): Department of Internal Medicine, College of Medicine, University of South Florida, Tampa 33612, USA. [email protected] Source: Sokol, Lubomir Stueben, Eugen T Jaikishen, Jay P Lamarche, Maximo B Am-JHematol. 2002 July; 70(3): 257-9 0361-8609

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Turner syndrome. Author(s): Division of Endocrinology and Metabolism, UCLA School of Medicine. Source: Lippe, B Endocrinol-Metab-Clin-North-Am. 1991 March; 20(1): 121-52 0889-8529

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Turner syndrome: final height, glucose tolerance, bone density and psychosocial status in 25 adult patients. Author(s): Abteilung Padiatrie I, Universitat Ulm, Germany. Source: Holl, R W Kunze, D Etzrodt, H Teller, W Heinze, E Eur-J-Pediatr. 1994 January; 153(1): 11-6 0340-6199

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What's best for the bones in Turner syndrome? Author(s): London Centre for Paediatric Endocrinology and Metabolism, University College London, UK. [email protected] Source: Hindmarsh, P C Clin-Endocrinol-(Oxf). 2000 May; 52(5): 529-30 0300-0664

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Federal Resources on Nutrition In addition to the IBIDS, the United States Department of Health and Human Services (HHS) and the United States Department of Agriculture (USDA) provide many sources of information on general nutrition and health. Recommended resources include: •

healthfinder®, HHS’s gateway to health information, including diet and nutrition: http://www.healthfinder.gov/scripts/SearchContext.asp?topic=238&page=0

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The United States Department of Agriculture’s Web site dedicated to nutrition information: www.nutrition.gov

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The Food and Drug Administration’s Web site for federal food safety information: www.foodsafety.gov

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The National Action Plan on Overweight and Obesity sponsored by the United States Surgeon General: http://www.surgeongeneral.gov/topics/obesity/

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The Center for Food Safety and Applied Nutrition has an Internet site sponsored by the Food and Drug Administration and the Department of Health and Human Services: http://vm.cfsan.fda.gov/

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Center for Nutrition Policy and Promotion sponsored by the United States Department of Agriculture: http://www.usda.gov/cnpp/

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Food and Nutrition Information Center, National Agricultural Library sponsored by the United States Department of Agriculture: http://www.nal.usda.gov/fnic/

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Food and Nutrition Service sponsored by the United States Department of Agriculture: http://www.fns.usda.gov/fns/

Additional Web Resources A number of additional Web sites offer encyclopedic information covering food and nutrition. The following is a representative sample: •

AOL: http://search.aol.com/cat.adp?id=174&layer=&from=subcats

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Family Village: http://www.familyvillage.wisc.edu/med_nutrition.html

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Google: http://directory.google.com/Top/Health/Nutrition/

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Healthnotes: http://www.healthnotes.com/

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Open Directory Project: http://dmoz.org/Health/Nutrition/

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Yahoo.com: http://dir.yahoo.com/Health/Nutrition/

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WebMDHealth: http://my.webmd.com/nutrition

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WholeHealthMD.com: http://www.wholehealthmd.com/reflib/0,1529,00.html

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CHAPTER 3. ALTERNATIVE MEDICINE AND TURNER SYNDROME Overview In this chapter, we will begin by introducing you to official information sources on complementary and alternative medicine (CAM) relating to Turner syndrome. At the conclusion of this chapter, we will provide additional sources.

National Center for Complementary and Alternative Medicine The National Center for Complementary and Alternative Medicine (NCCAM) of the National Institutes of Health (http://nccam.nih.gov/) has created a link to the National Library of Medicine’s databases to facilitate research for articles that specifically relate to Turner syndrome and complementary medicine. To search the database, go to the following Web site: http://www.nlm.nih.gov/nccam/camonpubmed.html. Select “CAM on PubMed.” Enter “Turner syndrome” (or synonyms) into the search box. Click “Go.” The following references provide information on particular aspects of complementary and alternative medicine that are related to Turner syndrome: •

Age and sex differences in averaged evoked responses in a normal population, with observations on patients with gonadal dysgenesis. Author(s): Buchsbaum MS, Henkin RI, Christiansen RL. Source: Electroencephalography and Clinical Neurophysiology. 1974 August; 37(2): 13744. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=4135020&dopt=Abstract

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Alterations of chromium metabolism and effect of chromium supplementation in Turner's syndrome patients. Author(s): Saner G, Yuzbasiyan V, Neyzi O, Gunoz H, Saka N, Cigdem S. Source: The American Journal of Clinical Nutrition. 1983 October; 38(4): 574-8. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=6624699&dopt=Abstract

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Developing a program to assist Turner's syndrome patients and families. Author(s): Mullins LL, Lynch J, Orten J, Youll LK. Source: Social Work in Health Care. 1991; 16(2): 69-79. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1667047&dopt=Abstract

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Invasive dysgerminoma in a girl with 45,X/46,X; mar mosaicism. Author(s): Pfeiffer RA, Tietze U, Krone HA, Schaaff A, Dhom G, Peter H. Source: Arch Gynecol. 1983; 233(2): 141-7. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=6882018&dopt=Abstract

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Long-term follow-up in females with Ullrich-Turner syndrome. Author(s): Pelz L, Kobschall H, Lubcke UG, Kruger G, Hinkel GK, Verron G. Source: Clinical Genetics. 1991 July; 40(1): 1-5. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1884512&dopt=Abstract

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Mineral balance (iron, aluminum, copper, zinc) after high-dose intravenous Desferal in a child with hemoglobin Hammersmith and Turner's syndrome. Author(s): Hyman CB, Gonick HC, Neufeld N, Agness CL. Source: Am J Pediatr Hematol Oncol. 1989 Winter; 11(4): 450-5. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=2618982&dopt=Abstract

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The cytology of amenorrhoea. Author(s): Wachtel E. Source: Acta Cytol. 1966 January-February; 10(1): 56-61. No Abstract Available. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=5220491&dopt=Abstract

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The incidence of Turner's syndrome in Ibadan, Nigeria. Author(s): Adeyokunnu AA. Source: Afr J Med Med Sci. 1982 September; 11(3): 105-12. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=6307025&dopt=Abstract

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Toxic hepatitis due to benzo-pyrone. Author(s): Faurschou P. Source: Hum Toxicol. 1982 March; 1(2): 149-50. No Abstract Available. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7173895&dopt=Abstract

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Turner syndrome in childhood and adolescence. Author(s): Batch J. Source: Best Practice & Research. Clinical Endocrinology & Metabolism. 2002 September; 16(3): 465-82. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12464229&dopt=Abstract

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Turner's syndrome and hypogonadotrophic hypogonadism: thalassemia major and hemochromatosis. Author(s): Afonso Lopes L, Benador D, Wacker P, Wyss M, Sizonenko PC. Source: J Pediatr Endocrinol Metab. 1995 January-March; 8(1): 73-7. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7584702&dopt=Abstract

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What more can be done for girls and women with Turner's syndrome and their parents? Author(s): Nielsen J. Source: Acta Paediatr Scand Suppl. 1989; 356: 93-100; Discussion 101-2. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=2816363&dopt=Abstract

Additional Web Resources A number of additional Web sites offer encyclopedic information covering CAM and related topics. The following is a representative sample: •

Alternative Medicine Foundation, Inc.: http://www.herbmed.org/

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Chinese Medicine: http://www.newcenturynutrition.com/

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drkoop.com: http://www.drkoop.com/InteractiveMedicine/IndexC.html

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Family Village: http://www.familyvillage.wisc.edu/med_altn.htm

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Google: http://directory.google.com/Top/Health/Alternative/

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Healthnotes: http://www.healthnotes.com/

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MedWebPlus: http://medwebplus.com/subject/Alternative_and_Complementary_Medicine

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Open Directory Project: http://dmoz.org/Health/Alternative/

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HealthGate: http://www.tnp.com/

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WebMDHealth: http://my.webmd.com/drugs_and_herbs

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WholeHealthMD.com: http://www.wholehealthmd.com/reflib/0,1529,00.html

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Yahoo.com: http://dir.yahoo.com/Health/Alternative_Medicine/

General References A good place to find general background information on CAM is the National Library of Medicine. It has prepared within the MEDLINEplus system an information topic page dedicated to complementary and alternative medicine. To access this page, go to the MEDLINEplus site at http://www.nlm.nih.gov/medlineplus/alternativemedicine.html. This Web site provides a general overview of various topics and can lead to a number of general sources.

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CHAPTER 4. DISSERTATIONS ON TURNER SYNDROME Overview In this chapter, we will give you a bibliography on recent dissertations relating to Turner syndrome. We will also provide you with information on how to use the Internet to stay current on dissertations. IMPORTANT NOTE: When following the search strategy described below, you may discover non-medical dissertations that use the generic term “Turner syndrome” (or a synonym) in their titles. To accurately reflect the results that you might find while conducting research on Turner syndrome, we have not necessarily excluded non-medical dissertations in this bibliography.

Dissertations on Turner Syndrome ProQuest Digital Dissertations, the largest archive of academic dissertations available, is located at the following Web address: http://wwwlib.umi.com/dissertations. From this archive, we have compiled the following list covering dissertations devoted to Turner syndrome. You will see that the information provided includes the dissertation’s title, its author, and the institution with which the author is associated. The following covers recent dissertations found when using this search procedure: •

Cognitive Behavioral Modification and Visual-Spatial Perception in Children with Learning Disabilities and Turner Syndrome by Williams, Janet Karen Day, PhD from The University of Iowa, 1989, 111 pages http://wwwlib.umi.com/dissertations/fullcit/9019986

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The Struggle to Understand Oneself As a Woman: Stress, Coping and the Psychological Development of Women with Turner Syndrome by Kagan-krieger, Susan F., EDD from University of Toronto (canada), 1998, 306 pages http://wwwlib.umi.com/dissertations/fullcit/NQ35405

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Turner Syndrome: a Study of Factors Affecting the Decision-Making Process of a Prenatal Diagnosis by Quindipan, Catherine Bombane; MS from Sarah Lawrence College, 2003, 28 pages http://wwwlib.umi.com/dissertations/fullcit/1413592

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Keeping Current Ask the medical librarian at your library if it has full and unlimited access to the ProQuest Digital Dissertations database. From the library, you should be able to do more complete searches via http://wwwlib.umi.com/dissertations.

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CHAPTER 5. CLINICAL TRIALS AND TURNER SYNDROME Overview In this chapter, we will show you how to keep informed of the latest clinical trials concerning Turner syndrome.

Recent Trials on Turner Syndrome The following is a list of recent trials dedicated to Turner syndrome.5 Further information on a trial is available at the Web site indicated. •

The Effects of Estrogen on Cognition in Girls with Turner Syndrome Condition(s): Gonadal Dysgenesis; Turner's Syndrome Study Status: This study is currently recruiting patients. Sponsor(s): National Institute of Child Health and Human Development (NICHD) Purpose - Excerpt: The development of the brain in females is a result of a combination of factors. During puberty estrogen plays a role in influencing brain development. Cultural and environmental factors also play a role in the development of the brain. Female patients with Turner syndrome lack the ability to produce estrogen due to undeveloped ovaries. Therefore, Turner syndrome is the perfect condition to study how estrogen (or the lack of estrogen) influences a person's behavior and thinking. This study will compare cognitive differences (visual motor skills, visual-spatial, psychosocial behavior, and visual memory) of patients with Turner syndrome to normal patient controls. Researchers will use the Weschler Intelligence Scale for ChildrenRevised (WISC-R) along with other tests and scales to measure different aspects of the patient's cognitive ability. In addition the study will review patients with Turner syndrome who previously received estrogen replacement as infants and children in a related research study. Researchers hope to demonstrate that estrogen replacement will improve cognition and behavior in girls with Turner syndrome. Phase(s): Phase II Study Type: Interventional

5

These are listed at www.ClinicalTrials.gov.

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Contact(s): see Web site below Web Site: http://clinicaltrials.gov/ct/show/NCT00001253 •

The Effects of Hormones in Growth Hormone-Treated Girls with Turner Syndrome Condition(s): Dwarfism; Turner's Syndrome Study Status: This study is currently recruiting patients. Sponsor(s): National Institute of Child Health and Human Development (NICHD) Purpose - Excerpt: Turners Syndrome is a genetic condition in females that is a result of abnormal chromosomes. Patients with Turner syndrome are typically short, have abnormal physical features, and lack the physical changes normally associated with puberty. In addition, some patients with Turner syndrome have low bone density (osteoporosis) and differences in learning abilities. This study will research the effects of steroid hormones on patients with Turner syndrome. It will look closely at how taking steroid hormones effects the patient's rate of growth as well as the patient's ability to learn. In addition the study will investigate how different hormones (androgen and estrogen) work when given together as a combination. All patients asked to participate in this study will receive growth hormone injections. However, half of the patients will receive an additional sex steroid hormone (oxandrolone) in the form of a pill. The other half of the patients will receive a placebo or "sugar pill". This will allow the researchers to determine if the combination of the hormones produces different results than growth hormone alone. The study will last approximately 2 years. After 2 years of research the patients may qualify for an additional 2 years of treatment. Patients may benefit directly from this research with increased growth and improved ability to learn. Phase(s): Phase II Study Type: Interventional Contact(s): see Web site below Web Site: http://clinicaltrials.gov/ct/show/NCT00001343

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Turner Syndrome: Genotype and Phenotype Condition(s): Turner's Syndrome Study Status: This study is currently recruiting patients. Sponsor(s): National Institute of Child Health and Human Development (NICHD) Purpose - Excerpt: This study will examine the clinical and genetic factors related to Turner syndrome, a disorder of the female sex chromosomes. Humans have 23 pairs of chromosomes-thin strands of DNA-in the nucleus of every cell, which contain genes that determine our hereditary makeup. One pair of chromosomes is the sex chromosomes, designated X and Y. Females normally have two X chromosomes; however, patients with Turner syndrome have only a single X chromosome or one normal and one defective X chromosome. This abnormality can cause medical problems such as a webbed neck, low-set ears, and heart or kidney defects. It can also cause short stature, lack of sexual development and improperly functioning ovaries. Adult women with Turner syndrome have an increased risk of high blood pressure, diabetes mellitus and osteoporosis. This study will try to identify the genes responsible for the specific medical problems associated with the disorder. Females 7 years of age and older with X chromosome defects may be eligible for this 3- to 5- day inpatient study at the National Institutes of Health Clinical Center in Bethesda, Maryland. Participants will have a

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comprehensive physical examination, including (with the patient's permission) photographs of abnormal physical findings to document characteristics of Turner syndrome. Patients will have their body measurements (height, weight, hip and waist) taken and blood drawn for clinical and research purposes. Patients will be given a "metabolic diet," with meals designed to contain specific amounts of salt and carbohydrate to allow accurate measurements of blood pressure and glucose (sugar) metabolism. Participants will have a 24-hour urine collection for kidney evaluation, electrocardiogram, urinalysis and urine pregnancy test, wrist X-rays, magnetic resonance imaging (MRI) of the heart, computerized tomography (CT) scan of the lower spine to evaluate bone strength, blood pressure measurements, ear and hearing examination, kidney ultrasound, vaginal ultrasound to evaluate the ovaries, heel ultrasound to measure bone thickness. They will also have an oral glucose tolerance test, DEXA scan (a type of X-ray study to measure body fat, muscle and bone thickness), memory and visual-perceptual testing, and a psychosocial evaluation to assess the effects of the disorder on quality of life and social functioning. These are state of the art diagnostic tests which may uncover unsuspected anatomic problems such as abnormalities of the aorta or aortic valve which have serious clinical implications and would indicate the need for close medical follow-up, as well as uncover potential risk for development of diabetes or osteoporosis in the future, which would also indicate the need for changes in lifestyle or medical management. Some patients may be asked to undergo a skin biopsy (removal of a small sample of skin tissue) to obtain more information about genetic make-up of cells. Parents of patients may be contacted (with the patient's permission) to provide a blood or other tissue sample for genetic study to help understand how and why certain traits of Turner syndrome are expressed. All patients will be invited to participate in a genetic counseling session to discuss their concerns and difficulties related to living with Turner syndrome. Study Type: Observational Contact(s): see Web site below Web Site: http://clinicaltrials.gov/ct/show/NCT00006334 •

The effect of androgen and growth hormone on height and learning in girls with Turner syndrome Condition(s): Turner Syndrome Study Status: This study is no longer recruiting patients. Sponsor(s): National Institute of Neurological Disorders and Stroke (NINDS) Purpose - Excerpt: The purposes of this study are to learn whether treatment with an androgen type hormone will improve the visual-spatial problems associated with Turner syndrome, and to evaluate the effect growth hormone, with and without androgen, has on growth. Phase(s): Phase III Study Type: Interventional Contact(s): see Web site below Web Site: http://clinicaltrials.gov/ct/show/NCT00029159

•

Effect of Biosynthetic Growth Hormone and/or Ethinyl Estradiol on Adult Height in Patients with Turner Syndrome Condition(s): Gonadal Dysgenesis; Turner's Syndrome

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Study Status: This study is completed. Sponsor(s): National Institute of Child Health and Human Development (NICHD) Purpose - Excerpt: Turners Syndrome is a genetic condition in females that is a result of abnormal chromosomes. Girls with Turner syndrome are very short as children and as adults. Although their growth hormone secretion is almost always normal, giving injections of growth hormone to Turner syndrome girls may increase their rate of growth. In addition, most girls with Turner syndrome do not have normal ovaries. In normal girls the ovaries begin producing small amounts of the female sex hormone, estrogen at about 11 - 12 years of age. As girls grow older the level of estrogen increases. Estrogen is responsible for the changes in girls known as feminization. During feminization the hips grow wider, the breasts develop, there is an increase in the rate of growth, and eventually girls experience their first menstrual period. This study was designed to evaluate the effect of low dose estrogen, growth hormone, and the combination of low dose estrogen and growth hormone on adult height in girls with Turner syndrome. Patients will be entered into the study from ages 5 to 12 and will be randomly placed into one of four groups. 1. Group one will receive low dose estrogen 2. Group two will receive growth hormone 3. Group three will receive both low dose estrogen and growth hormone 4. Group four will receive a placebo "sugar pill" Once started, the treatment will continue until the patients approach their adult height, and growth slows to less than 1/2 inch over the preceding year. This usually occurs by the age of 15 or 16. Patients will be seen at the outpatient clinic every 6 months during the study and will receive a routine check-up with blood and urine tests, and hand/wrist Xrays to determine bone age. On patient's yearly visits they will have the density of bone measured in their spine and forearm. Phase(s): Phase II Study Type: Interventional Contact(s): see Web site below Web Site: http://clinicaltrials.gov/ct/show/NCT00001221 •

Hormone Replacement Therapy to Treat Turner Syndrome Condition(s): Osteoporosis; Turner's Syndrome Study Status: This study is completed. Sponsor(s): National Institute of Child Health and Human Development (NICHD) Purpose - Excerpt: This study will evaluate the effects of hormone replacement therapy on patients with Turner syndrome (TS)-a genetic disorder in females in which part or all of one X chromosome is missing. Most girls and women with TS have underdeveloped ovaries-the female reproductive organs that produce the female sex hormones estrogen and progesterone, and smaller amounts of the male sex hormone, testosterone. These hormones affect muscle and bone strength, sex drive, energy, and an overall sense of well being. Estrogen may also play a role in memory and mood and have a protective effect against heart disease. Women with TS have a much higher risk of developing osteoporosis (loss of bone density), high blood pressure, high cholesterol and diabetes than women without this disorder. Girls and women with Turner syndrome between the ages of 14 and 50 years may be eligible for this 2-year study. Three months before beginning treatment, all patients will wear an estrogen patch and take a progesterone tablet daily for 10 days each month. They will then be randomly assigned to one of two treatment groups to compare the effects of estrogen alone with estrogen plus testosterone on bone strength, muscle and fat mass and psychosocial well being. Both

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groups will wear an estrogen patch and take oral progesterone. One group will also wear a testosterone patch while the other group will wear a placebo patch (a patch that does not contain any testosterone). Neither study participants nor the doctors will know who is getting the testosterone until the study is complete. Patients will undergo the following procedures before beginning treatment and at 6, 12 and 24 months after starting treatment: - Physical examination. - DEXA scans (dual energy X-ray absorptiometry) to measure body composition and bone thickness. Low radiation X-rays scan the whole body to measure fat, muscle and bone mineral content. - Magnetic resonance imaging (MRI) scan of the abdomen to measure the amount of fat around the internal organs. The patient lies on a stretcher in a large tube surrounded by a magnetic field during the scanning. The procedure uses a strong magnet and radio waves to produce the images. - Heel ultrasound to measure bone thickness. The heel is placed in a chamber and sound waves pass through it to produce images. - Oral glucose tolerance test (OGTT) for diabetes and problems with carbohydrate metabolism. The patient drinks a sugary substance. A small amount of blood is drawn before taking the drink and four times afterwards. - Blood and urine tests to measure blood counts, liver and kidney function, ovarian hormones, growth factors, thyroid function, blood lipids, bone strength markers, and to test for pregnancy. - Blood pressure measurements. Psychological testing for the effect of treatment on mood, self-esteem, quality of life, social shyness, anxiety and sexual function. - Neurocognitive tests (at first inpatient visit and 1 and 2 years after starting treatment) to measure nonverbal memory and visualperceptual abilities. During the hospital admissions, patients will be given a "metabolic diet" that contains specific amounts of salt and carbohydrates to ensure accurate blood pressure and sugar metabolism measurements. Patients will keep a record of their menstrual periods and physical activity throughout the treatment period. Phase(s): Phase II Study Type: Interventional Contact(s): see Web site below Web Site: http://clinicaltrials.gov/ct/show/NCT00013546

Keeping Current on Clinical Trials The U.S. National Institutes of Health, through the National Library of Medicine, has developed ClinicalTrials.gov to provide current information about clinical research across the broadest number of diseases and conditions. The site was launched in February 2000 and currently contains approximately 5,700 clinical studies in over 59,000 locations worldwide, with most studies being conducted in the United States. ClinicalTrials.gov receives about 2 million hits per month and hosts approximately 5,400 visitors daily. To access this database, simply go to the Web site at http://www.clinicaltrials.gov/ and search by “Turner syndrome” (or synonyms). While ClinicalTrials.gov is the most comprehensive listing of NIH-supported clinical trials available, not all trials are in the database. The database is updated regularly, so clinical trials are continually being added. The following is a list of specialty databases affiliated with the National Institutes of Health that offer additional information on trials: •

For clinical studies at the Warren Grant Magnuson Clinical Center located in Bethesda, Maryland, visit their Web site: http://clinicalstudies.info.nih.gov/

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For clinical studies conducted at the Bayview Campus in Baltimore, Maryland, visit their Web site: http://www.jhbmc.jhu.edu/studies/index.html

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For cancer trials, visit the National Cancer Institute: http://cancertrials.nci.nih.gov/

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For eye-related trials, visit and search the Web page of the National Eye Institute: http://www.nei.nih.gov/neitrials/index.htm

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For heart, lung and blood trials, visit the Web page of the National Heart, Lung and Blood Institute: http://www.nhlbi.nih.gov/studies/index.htm

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For trials on aging, visit and search the Web site of the National Institute on Aging: http://www.grc.nia.nih.gov/studies/index.htm

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For rare diseases, visit and search the Web site sponsored by the Office of Rare Diseases: http://ord.aspensys.com/asp/resources/rsch_trials.asp

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For alcoholism, visit the National Institute on Alcohol Abuse and Alcoholism: http://www.niaaa.nih.gov/intramural/Web_dicbr_hp/particip.htm

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For trials on infectious, immune, and allergic diseases, visit the site of the National Institute of Allergy and Infectious Diseases: http://www.niaid.nih.gov/clintrials/

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For trials on arthritis, musculoskeletal and skin diseases, visit newly revised site of the National Institute of Arthritis and Musculoskeletal and Skin Diseases of the National Institutes of Health: http://www.niams.nih.gov/hi/studies/index.htm

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For hearing-related trials, visit the National Institute on Deafness and Other Communication Disorders: http://www.nidcd.nih.gov/health/clinical/index.htm

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For trials on diseases of the digestive system and kidneys, and diabetes, visit the National Institute of Diabetes and Digestive and Kidney Diseases: http://www.niddk.nih.gov/patient/patient.htm

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For drug abuse trials, visit and search the Web site sponsored by the National Institute on Drug Abuse: http://www.nida.nih.gov/CTN/Index.htm

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For trials on mental disorders, visit and search the Web site of the National Institute of Mental Health: http://www.nimh.nih.gov/studies/index.cfm

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For trials on neurological disorders and stroke, visit and search the Web site sponsored by the National Institute of Neurological Disorders and Stroke of the NIH: http://www.ninds.nih.gov/funding/funding_opportunities.htm#Clinical_Trials

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CHAPTER 6. BOOKS ON TURNER SYNDROME Overview This chapter provides bibliographic book references relating to Turner syndrome. In addition to online booksellers such as www.amazon.com and www.bn.com, excellent sources for book titles on Turner syndrome include the Combined Health Information Database and the National Library of Medicine. Your local medical library also may have these titles available for loan.

Book Summaries: Federal Agencies The Combined Health Information Database collects various book abstracts from a variety of healthcare institutions and federal agencies. To access these summaries, go directly to the following hyperlink: http://chid.nih.gov/detail/detail.html. You will need to use the “Detailed Search” option. To find book summaries, use the drop boxes at the bottom of the search page where “You may refine your search by.” Select the dates and language you prefer. For the format option, select “Monograph/Book.” Now type “Turner syndrome” (or synonyms) into the “For these words:” box. You should check back periodically with this database which is updated every three months. The following is a typical result when searching for books on Turner syndrome: •

Genetic Disorders and Birth Defects: A Compendium of AAP Guidelines and Resources for the Primary Care Practitioner Source: Elk Grove Village, IL: American Academy of Pediatrics (AAP). 1997. 130 p. Contact: Available from American Academy of Pediatrics (AAP). 141 Northwest Point Boulevard, Elk Grove Village, IL 60007-1098. (800) 433-9016 (members) or (888) 227-1773 (nonmembers). Fax (847) 434-8000. Website: www.aap.org. PRICE: $24.95 each (members); $29.95 each (nonmembers); plus shipping and handling. Order Number BMA0097. Summary: This volume provides a compendium of the American Academy of Pediatrics (AAP) guidelines and resources for health care providers who are working with patients who have genetic disorders and birth defects. The compendium serves as a diagnostic and management resource guide for pediatricians and primary care physicians.

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Although some of the disorders covered are relatively uncommon, it is likely that most pediatricians will encounter and care for a few such patients in their practice panel. The authors emphasize that early intervention services, multidisciplinary care, and developmental assessment and management form a major part of continuing care for many children with genetic conditions. The AAP Policy Statements are provided on folic acid for the prevention of neural tube defects, issues in newborn screening, maternal phenylketonuria, maternal serum alpha-fetoprotein screening, newborn screening for congenital hypothyroidism, newborn screening fact sheets, and prenatal genetic diagnosis for pediatricians. In addition, policy statements are provided for the health supervision of children born with the following conditions: achondroplasia, Down syndrome, fragile X syndrome, Marfan syndrome, neurofibromatosis, sickle cell disease, and Turner syndrome. Each Policy Statement includes references. The compendium includes extensive appendices, covering topics including fetal alcohol syndrome, general principles of care for children and adolescents with genetic and other chronic health conditions, hospital stays, medical homes, preventive pediatric health care, and transition of care provided for adolescents with special health care needs. The compendium also lists the references where the policy statements were first published, the contact information for national and regional genetic organizations, and the members of the AAP Section on Genetics and Birth Defects.

Book Summaries: Online Booksellers Commercial Internet-based booksellers, such as Amazon.com and Barnes&Noble.com, offer summaries which have been supplied by each title’s publisher. Some summaries also include customer reviews. Your local bookseller may have access to in-house and commercial databases that index all published books (e.g. Books in Print). IMPORTANT NOTE: Online booksellers typically produce search results for medical and non-medical books. When searching for “Turner syndrome” at online booksellers’ Web sites, you may discover non-medical books that use the generic term “Turner syndrome” (or a synonym) in their titles. The following is indicative of the results you might find when searching for “Turner syndrome” (sorted alphabetically by title; follow the hyperlink to view more details at Amazon.com): •

Basic and Clinical Approach to Turner Syndrome: Proceedings of the 3rd International Symposium on Turner Syndrome, Chiba, Japan, 8-10 July 1992 (Int) by Itsuro Hibi, Kazue Takano (Editor); ISBN: 0444897208; http://www.amazon.com/exec/obidos/ASIN/0444897208/icongroupinterna

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Growth Hormone Therapy in Turner Syndrome (Journal, Vol. 39, Supplement 2, 1993: Hormone Research) by R. G. Thompson (Editor); ISBN: 3805557957; http://www.amazon.com/exec/obidos/ASIN/3805557957/icongroupinterna

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Turner Syndrome by Ron G. Rosenfeld, Melvin M. Grumbach (Editor); ISBN: 0824781082; http://www.amazon.com/exec/obidos/ASIN/0824781082/icongroupinterna

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Turner Syndrome in a Life Span Perspective: Research and Clinical Aspects by Sweden)/ Ranke, M. International Symposium on Turner Syndrome 1995 Goteborg (Editor), Kerstin Albertsson-Wikland; ISBN: 0444821880; http://www.amazon.com/exec/obidos/ASIN/0444821880/icongroupinterna

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Turner Syndrome: Growth Promoting Therapies: Proceedings of a Workshop on Turner Syndrome, Frankfurt/Main, 25-26 May 1990 (International Congress S) by

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Workshop on Turner Syndrome, et al; ISBN: 0444813802; http://www.amazon.com/exec/obidos/ASIN/0444813802/icongroupinterna

The National Library of Medicine Book Index The National Library of Medicine at the National Institutes of Health has a massive database of books published on healthcare and biomedicine. Go to the following Internet site, http://locatorplus.gov/, and then select “Search LOCATORplus.” Once you are in the search area, simply type “Turner syndrome” (or synonyms) into the search box, and select “books only.” From there, results can be sorted by publication date, author, or relevance. The following was recently catalogued by the National Library of Medicine:6 •

Optimizing health care for Turner patients in the 21st century: proceedings of the 5th International Turner Syndrome help in Naples on 23-25 March 2000 Author: Saenger, Paul.; Year: 1975; Amsterdam; New York: Elsevier, 2000; ISBN: 0444505830 http://www.amazon.com/exec/obidos/ASIN/0444505830/icongroupinterna

Chapters on Turner Syndrome In order to find chapters that specifically relate to Turner syndrome, an excellent source of abstracts is the Combined Health Information Database. You will need to limit your search to book chapters and Turner syndrome using the “Detailed Search” option. Go to the following hyperlink: http://chid.nih.gov/detail/detail.html. To find book chapters, use the drop boxes at the bottom of the search page where “You may refine your search by.” Select the dates and language you prefer, and the format option “Book Chapter.” Type “Turner syndrome” (or synonyms) into the “For these words:” box. The following is a typical result when searching for book chapters on Turner syndrome: •

Health Supervision for Children with Turner Syndrome Source: in Genetic Disorders and Birth Defects: A Compendium of AAP Guidelines and Resources for the Primary Care Practitioner. Elk Grove Village, IL: American Academy of Pediatrics (AAP). 1997. p. 41-48. Contact: Available from American Academy of Pediatrics (AAP). 141 Northwest Point Boulevard, Elk Grove Village, IL 60007-1098. (800) 433-9016 (members) or (888) 227-1773 (nonmembers). Fax (847) 434-8000. Website: www.aap.org. PRICE: $24.95 each (members); $29.95 each (nonmembers); plus shipping and handling. Order Number BMA0097. Summary: This chapter on health supervision for children with Turner syndrome is from a compendium of the American Academy of Pediatrics (AAP) guidelines and resources for pediatricians and primary care physicians who are working with patients

6

In addition to LOCATORPlus, in collaboration with authors and publishers, the National Center for Biotechnology Information (NCBI) is currently adapting biomedical books for the Web. The books may be accessed in two ways: (1) by searching directly using any search term or phrase (in the same way as the bibliographic database PubMed), or (2) by following the links to PubMed abstracts. Each PubMed abstract has a "Books" button that displays a facsimile of the abstract in which some phrases are hypertext links. These phrases are also found in the books available at NCBI. Click on hyperlinked results in the list of books in which the phrase is found. Currently, the majority of the links are between the books and PubMed. In the future, more links will be created between the books and other types of information, such as gene and protein sequences and macromolecular structures. See http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=Books.

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who have genetic disorders and birth defects. The compendium serves as a diagnostic and management resource guide for pediatricians and primary care physicians. This chapter offers guidelines designed to assist the pediatrician in caring for the child in whom the diagnosis of Turner syndrome has been confirmed by karyotype. The introductory section reviews the symptoms and complications of Turner syndrome, phenotype, and general medical management, including the need for rigorous attention to possible otitis media. The guidelines then outline strategies to adopt for the health supervision for newborns (birth to one month), infants (one month to one year), early childhood (one to five years), late childhood (five to thirteen years), and adolescent to early adulthood (thirteen years to twenty-one years or older). Each section notes recommendations for examination and anticipatory guidance. 29 references.

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CHAPTER 7. MULTIMEDIA ON TURNER SYNDROME Overview In this chapter, we show you how to keep current on multimedia sources of information on Turner syndrome. We start with sources that have been summarized by federal agencies, and then show you how to find bibliographic information catalogued by the National Library of Medicine.

Bibliography: Multimedia on Turner Syndrome The National Library of Medicine is a rich source of information on healthcare-related multimedia productions including slides, computer software, and databases. To access the multimedia database, go to the following Web site: http://locatorplus.gov/. Select “Search LOCATORplus.” Once in the search area, simply type in Turner syndrome (or synonyms). Then, in the option box provided below the search box, select “Audiovisuals and Computer Files.” From there, you can choose to sort results by publication date, author, or relevance. The following multimedia has been indexed on Turner syndrome: •

Gonadal dysgenesis [slide] Source: Luther M. Talbert; Year: 1977; Format: Slide; Chapel Hill, N. C.: Health Sciences Consortium, c1977

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CHAPTER 8. PERIODICALS AND NEWS ON TURNER SYNDROME Overview In this chapter, we suggest a number of news sources and present various periodicals that cover Turner syndrome.

News Services and Press Releases One of the simplest ways of tracking press releases on Turner syndrome is to search the news wires. In the following sample of sources, we will briefly describe how to access each service. These services only post recent news intended for public viewing. PR Newswire To access the PR Newswire archive, simply go to http://www.prnewswire.com/. Select your country. Type “Turner syndrome” (or synonyms) into the search box. You will automatically receive information on relevant news releases posted within the last 30 days. The search results are shown by order of relevance. Reuters Health The Reuters’ Medical News and Health eLine databases can be very useful in exploring news archives relating to Turner syndrome. While some of the listed articles are free to view, others are available for purchase for a nominal fee. To access this archive, go to http://www.reutershealth.com/en/index.html and search by “Turner syndrome” (or synonyms). The following was recently listed in this archive for Turner syndrome: •

Turner syndrome may confer high risk of aortic rupture during pregnancy Source: Reuters Medical News Date: September 16, 2003

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Growth hormone impaired in girls with Turner syndrome Source: Reuters Industry Breifing Date: November 18, 2002

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Genentech Gets FDA Approval For Nutropin For Turner Syndrome Source: Reuters Medical News Date: January 03, 1997 The NIH

Within MEDLINEplus, the NIH has made an agreement with the New York Times Syndicate, the AP News Service, and Reuters to deliver news that can be browsed by the public. Search news releases at http://www.nlm.nih.gov/medlineplus/alphanews_a.html. MEDLINEplus allows you to browse across an alphabetical index. Or you can search by date at the following Web page: http://www.nlm.nih.gov/medlineplus/newsbydate.html. Often, news items are indexed by MEDLINEplus within its search engine. Business Wire Business Wire is similar to PR Newswire. To access this archive, simply go to http://www.businesswire.com/. You can scan the news by industry category or company name. Market Wire Market Wire is more focused on technology than the other wires. To browse the latest press releases by topic, such as alternative medicine, biotechnology, fitness, healthcare, legal, nutrition, and pharmaceuticals, access Market Wire’s Medical/Health channel at http://www.marketwire.com/mw/release_index?channel=MedicalHealth. Or simply go to Market Wire’s home page at http://www.marketwire.com/mw/home, type “Turner syndrome” (or synonyms) into the search box, and click on “Search News.” As this service is technology oriented, you may wish to use it when searching for press releases covering diagnostic procedures or tests. Search Engines Medical news is also available in the news sections of commercial Internet search engines. See the health news page at Yahoo (http://dir.yahoo.com/Health/News_and_Media/), or you can use this Web site’s general news search page at http://news.yahoo.com/. Type in “Turner syndrome” (or synonyms). If you know the name of a company that is relevant to Turner syndrome, you can go to any stock trading Web site (such as http://www.etrade.com/) and search for the company name there. News items across various news sources are reported on indicated hyperlinks. Google offers a similar service at http://news.google.com/.

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BBC Covering news from a more European perspective, the British Broadcasting Corporation (BBC) allows the public free access to their news archive located at http://www.bbc.co.uk/. Search by “Turner syndrome” (or synonyms).

Academic Periodicals covering Turner Syndrome Numerous periodicals are currently indexed within the National Library of Medicine’s PubMed database that are known to publish articles relating to Turner syndrome. In addition to these sources, you can search for articles covering Turner syndrome that have been published by any of the periodicals listed in previous chapters. To find the latest studies published, go to http://www.ncbi.nlm.nih.gov/pubmed, type the name of the periodical into the search box, and click “Go.” If you want complete details about the historical contents of a journal, you can also visit the following Web site: http://www.ncbi.nlm.nih.gov/entrez/jrbrowser.cgi. Here, type in the name of the journal or its abbreviation, and you will receive an index of published articles. At http://locatorplus.gov/, you can retrieve more indexing information on medical periodicals (e.g. the name of the publisher). Select the button “Search LOCATORplus.” Then type in the name of the journal and select the advanced search option “Journal Title Search.”

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CHAPTER 9. RESEARCHING MEDICATIONS Overview While a number of hard copy or CD-ROM resources are available for researching medications, a more flexible method is to use Internet-based databases. Broadly speaking, there are two sources of information on approved medications: public sources and private sources. We will emphasize free-to-use public sources.

U.S. Pharmacopeia Because of historical investments by various organizations and the emergence of the Internet, it has become rather simple to learn about the medications recommended for Turner syndrome. One such source is the United States Pharmacopeia. In 1820, eleven physicians met in Washington, D.C. to establish the first compendium of standard drugs for the United States. They called this compendium the U.S. Pharmacopeia (USP). Today, the USP is a non-profit organization consisting of 800 volunteer scientists, eleven elected officials, and 400 representatives of state associations and colleges of medicine and pharmacy. The USP is located in Rockville, Maryland, and its home page is located at http://www.usp.org/. The USP currently provides standards for over 3,700 medications. The resulting USP DI Advice for the Patient can be accessed through the National Library of Medicine of the National Institutes of Health. The database is partially derived from lists of federally approved medications in the Food and Drug Administration’s (FDA) Drug Approvals database, located at http://www.fda.gov/cder/da/da.htm. While the FDA database is rather large and difficult to navigate, the Phamacopeia is both user-friendly and free to use. It covers more than 9,000 prescription and over-the-counter medications. To access this database, simply type the following hyperlink into your Web browser: http://www.nlm.nih.gov/medlineplus/druginformation.html. To view examples of a given medication (brand names, category, description, preparation, proper use, precautions, side effects, etc.), simply follow the hyperlinks indicated within the United States Pharmacopeia (USP). Below, we have compiled a list of medications associated with Turner syndrome. If you would like more information on a particular medication, the provided hyperlinks will direct you to ample documentation (e.g. typical dosage, side effects, drug-interaction risks, etc.).

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The following drugs have been mentioned in the Pharmacopeia and other sources as being potentially applicable to Turner syndrome: Growth Hormone •

Systemic - U.S. Brands: Genotropin; Genotropin Miniquick; Humatrope; Norditropin; Nutropin; Nutropin AQ; Protropin; Saizen; Serostim http://www.nlm.nih.gov/medlineplus/druginfo/uspdi/202269.html

Commercial Databases In addition to the medications listed in the USP above, a number of commercial sites are available by subscription to physicians and their institutions. Or, you may be able to access these sources from your local medical library.

Mosby’s Drug Consult Mosby’s Drug Consult database (also available on CD-ROM and book format) covers 45,000 drug products including generics and international brands. It provides prescribing information, drug interactions, and patient information. Subscription information is available at the following hyperlink: http://www.mosbysdrugconsult.com/.

PDRhealth The PDRhealth database is a free-to-use, drug information search engine that has been written for the public in layman’s terms. It contains FDA-approved drug information adapted from the Physicians’ Desk Reference (PDR) database. PDRhealth can be searched by brand name, generic name, or indication. It features multiple drug interactions reports. Search PDRhealth at http://www.pdrhealth.com/drug_info/index.html. Other Web Sites Drugs.com (www.drugs.com) reproduces the information in the Pharmacopeia as well as commercial information. You may also want to consider the Web site of the Medical Letter, Inc. (http://www.medletter.com/) which allows users to download articles on various drugs and therapeutics for a nominal fee. If you have any questions about a medical treatment, the FDA may have an office near you. Look for their number in the blue pages of the phone book. You can also contact the FDA through its toll-free number, 1-888-INFO-FDA (1-888-463-6332), or on the World Wide Web at www.fda.gov.

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APPENDICES

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APPENDIX A. PHYSICIAN RESOURCES Overview In this chapter, we focus on databases and Internet-based guidelines and information resources created or written for a professional audience.

NIH Guidelines Commonly referred to as “clinical” or “professional” guidelines, the National Institutes of Health publish physician guidelines for the most common diseases. Publications are available at the following by relevant Institute7: •

Office of the Director (OD); guidelines consolidated across agencies available at http://www.nih.gov/health/consumer/conkey.htm

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National Institute of General Medical Sciences (NIGMS); fact sheets available at http://www.nigms.nih.gov/news/facts/

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National Library of Medicine (NLM); extensive encyclopedia (A.D.A.M., Inc.) with guidelines: http://www.nlm.nih.gov/medlineplus/healthtopics.html

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National Cancer Institute (NCI); guidelines available at http://www.cancer.gov/cancerinfo/list.aspx?viewid=5f35036e-5497-4d86-8c2c714a9f7c8d25

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National Eye Institute (NEI); guidelines available at http://www.nei.nih.gov/order/index.htm

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National Heart, Lung, and Blood Institute (NHLBI); guidelines available at http://www.nhlbi.nih.gov/guidelines/index.htm

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National Human Genome Research Institute (NHGRI); research available at http://www.genome.gov/page.cfm?pageID=10000375

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National Institute on Aging (NIA); guidelines available at http://www.nia.nih.gov/health/

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These publications are typically written by one or more of the various NIH Institutes.

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National Institute on Alcohol Abuse and Alcoholism (NIAAA); guidelines available at http://www.niaaa.nih.gov/publications/publications.htm

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National Institute of Allergy and Infectious Diseases (NIAID); guidelines available at http://www.niaid.nih.gov/publications/

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National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS); fact sheets and guidelines available at http://www.niams.nih.gov/hi/index.htm

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National Institute of Child Health and Human Development (NICHD); guidelines available at http://www.nichd.nih.gov/publications/pubskey.cfm

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National Institute on Deafness and Other Communication Disorders (NIDCD); fact sheets and guidelines at http://www.nidcd.nih.gov/health/

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National Institute of Dental and Craniofacial Research (NIDCR); guidelines available at http://www.nidr.nih.gov/health/

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National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK); guidelines available at http://www.niddk.nih.gov/health/health.htm

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National Institute on Drug Abuse (NIDA); guidelines available at http://www.nida.nih.gov/DrugAbuse.html

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National Institute of Environmental Health Sciences (NIEHS); environmental health information available at http://www.niehs.nih.gov/external/facts.htm

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National Institute of Mental Health (NIMH); guidelines available at http://www.nimh.nih.gov/practitioners/index.cfm

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National Institute of Neurological Disorders and Stroke (NINDS); neurological disorder information pages available at http://www.ninds.nih.gov/health_and_medical/disorder_index.htm

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National Institute of Nursing Research (NINR); publications on selected illnesses at http://www.nih.gov/ninr/news-info/publications.html

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National Institute of Biomedical Imaging and Bioengineering; general information at http://grants.nih.gov/grants/becon/becon_info.htm

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Center for Information Technology (CIT); referrals to other agencies based on keyword searches available at http://kb.nih.gov/www_query_main.asp

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National Center for Complementary and Alternative Medicine (NCCAM); health information available at http://nccam.nih.gov/health/

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National Center for Research Resources (NCRR); various information directories available at http://www.ncrr.nih.gov/publications.asp

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Office of Rare Diseases; various fact sheets available at http://rarediseases.info.nih.gov/html/resources/rep_pubs.html

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Centers for Disease Control and Prevention; various fact sheets on infectious diseases available at http://www.cdc.gov/publications.htm

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NIH Databases In addition to the various Institutes of Health that publish professional guidelines, the NIH has designed a number of databases for professionals.8 Physician-oriented resources provide a wide variety of information related to the biomedical and health sciences, both past and present. The format of these resources varies. Searchable databases, bibliographic citations, full-text articles (when available), archival collections, and images are all available. The following are referenced by the National Library of Medicine:9 •

Bioethics: Access to published literature on the ethical, legal, and public policy issues surrounding healthcare and biomedical research. This information is provided in conjunction with the Kennedy Institute of Ethics located at Georgetown University, Washington, D.C.: http://www.nlm.nih.gov/databases/databases_bioethics.html

•

HIV/AIDS Resources: Describes various links and databases dedicated to HIV/AIDS research: http://www.nlm.nih.gov/pubs/factsheets/aidsinfs.html

•

NLM Online Exhibitions: Describes “Exhibitions in the History of Medicine”: http://www.nlm.nih.gov/exhibition/exhibition.html. Additional resources for historical scholarship in medicine: http://www.nlm.nih.gov/hmd/hmd.html

•

Biotechnology Information: Access to public databases. The National Center for Biotechnology Information conducts research in computational biology, develops software tools for analyzing genome data, and disseminates biomedical information for the better understanding of molecular processes affecting human health and disease: http://www.ncbi.nlm.nih.gov/

•

Population Information: The National Library of Medicine provides access to worldwide coverage of population, family planning, and related health issues, including family planning technology and programs, fertility, and population law and policy: http://www.nlm.nih.gov/databases/databases_population.html

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Cancer Information: Access to cancer-oriented databases: http://www.nlm.nih.gov/databases/databases_cancer.html

•

Profiles in Science: Offering the archival collections of prominent twentieth-century biomedical scientists to the public through modern digital technology: http://www.profiles.nlm.nih.gov/

•

Chemical Information: Provides links to various chemical databases and references: http://sis.nlm.nih.gov/Chem/ChemMain.html

•

Clinical Alerts: Reports the release of findings from the NIH-funded clinical trials where such release could significantly affect morbidity and mortality: http://www.nlm.nih.gov/databases/alerts/clinical_alerts.html

•

Space Life Sciences: Provides links and information to space-based research (including NASA): http://www.nlm.nih.gov/databases/databases_space.html

•

MEDLINE: Bibliographic database covering the fields of medicine, nursing, dentistry, veterinary medicine, the healthcare system, and the pre-clinical sciences: http://www.nlm.nih.gov/databases/databases_medline.html

8 Remember, for the general public, the National Library of Medicine recommends the databases referenced in MEDLINEplus (http://medlineplus.gov/ or http://www.nlm.nih.gov/medlineplus/databases.html). 9 See http://www.nlm.nih.gov/databases/databases.html.

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•

Toxicology and Environmental Health Information (TOXNET): Databases covering toxicology and environmental health: http://sis.nlm.nih.gov/Tox/ToxMain.html

•

Visible Human Interface: Anatomically detailed, three-dimensional representations of normal male and female human bodies: http://www.nlm.nih.gov/research/visible/visible_human.html

The NLM Gateway10 The NLM (National Library of Medicine) Gateway is a Web-based system that lets users search simultaneously in multiple retrieval systems at the U.S. National Library of Medicine (NLM). It allows users of NLM services to initiate searches from one Web interface, providing one-stop searching for many of NLM’s information resources or databases.11 To use the NLM Gateway, simply go to the search site at http://gateway.nlm.nih.gov/gw/Cmd. Type “Turner syndrome” (or synonyms) into the search box and click “Search.” The results will be presented in a tabular form, indicating the number of references in each database category. Results Summary Category Journal Articles Books / Periodicals / Audio Visual Consumer Health Meeting Abstracts Other Collections Total

Items Found 5096 38 215 4 0 5353

HSTAT12 HSTAT is a free, Web-based resource that provides access to full-text documents used in healthcare decision-making.13 These documents include clinical practice guidelines, quickreference guides for clinicians, consumer health brochures, evidence reports and technology assessments from the Agency for Healthcare Research and Quality (AHRQ), as well as AHRQ’s Put Prevention Into Practice.14 Simply search by “Turner syndrome” (or synonyms) at the following Web site: http://text.nlm.nih.gov.

10

Adapted from NLM: http://gateway.nlm.nih.gov/gw/Cmd?Overview.x.

11

The NLM Gateway is currently being developed by the Lister Hill National Center for Biomedical Communications (LHNCBC) at the National Library of Medicine (NLM) of the National Institutes of Health (NIH). 12 Adapted from HSTAT: http://www.nlm.nih.gov/pubs/factsheets/hstat.html. 13 14

The HSTAT URL is http://hstat.nlm.nih.gov/.

Other important documents in HSTAT include: the National Institutes of Health (NIH) Consensus Conference Reports and Technology Assessment Reports; the HIV/AIDS Treatment Information Service (ATIS) resource documents; the Substance Abuse and Mental Health Services Administration's Center for Substance Abuse Treatment (SAMHSA/CSAT) Treatment Improvement Protocols (TIP) and Center for Substance Abuse Prevention (SAMHSA/CSAP) Prevention Enhancement Protocols System (PEPS); the Public Health Service (PHS) Preventive Services Task Force's Guide to Clinical Preventive Services; the independent, nonfederal Task Force on Community Services’ Guide to Community Preventive Services; and the Health Technology Advisory Committee (HTAC) of the Minnesota Health Care Commission (MHCC) health technology evaluations.

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Coffee Break: Tutorials for Biologists15 Coffee Break is a general healthcare site that takes a scientific view of the news and covers recent breakthroughs in biology that may one day assist physicians in developing treatments. Here you will find a collection of short reports on recent biological discoveries. Each report incorporates interactive tutorials that demonstrate how bioinformatics tools are used as a part of the research process. Currently, all Coffee Breaks are written by NCBI staff.16 Each report is about 400 words and is usually based on a discovery reported in one or more articles from recently published, peer-reviewed literature.17 This site has new articles every few weeks, so it can be considered an online magazine of sorts. It is intended for general background information. You can access the Coffee Break Web site at the following hyperlink: http://www.ncbi.nlm.nih.gov/Coffeebreak/.

Other Commercial Databases In addition to resources maintained by official agencies, other databases exist that are commercial ventures addressing medical professionals. Here are some examples that may interest you: •

CliniWeb International: Index and table of contents to selected clinical information on the Internet; see http://www.ohsu.edu/cliniweb/.

•

Medical World Search: Searches full text from thousands of selected medical sites on the Internet; see http://www.mwsearch.com/.

The Genome Project and Turner Syndrome In the following section, we will discuss databases and references which relate to the Genome Project and Turner syndrome. Online Mendelian Inheritance in Man (OMIM) The Online Mendelian Inheritance in Man (OMIM) database is a catalog of human genes and genetic disorders authored and edited by Dr. Victor A. McKusick and his colleagues at Johns Hopkins and elsewhere. OMIM was developed for the World Wide Web by the National Center for Biotechnology Information (NCBI).18 The database contains textual information, pictures, and reference information. It also contains copious links to NCBI’s Entrez database of MEDLINE articles and sequence information. 15 Adapted 16

from http://www.ncbi.nlm.nih.gov/Coffeebreak/Archive/FAQ.html.

The figure that accompanies each article is frequently supplied by an expert external to NCBI, in which case the source of the figure is cited. The result is an interactive tutorial that tells a biological story. 17 After a brief introduction that sets the work described into a broader context, the report focuses on how a molecular understanding can provide explanations of observed biology and lead to therapies for diseases. Each vignette is accompanied by a figure and hypertext links that lead to a series of pages that interactively show how NCBI tools and resources are used in the research process. 18 Adapted from http://www.ncbi.nlm.nih.gov/. Established in 1988 as a national resource for molecular biology information, NCBI creates public databases, conducts research in computational biology, develops software tools for analyzing genome data, and disseminates biomedical information--all for the better understanding of molecular processes affecting human health and disease.

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To search the database, go to http://www.ncbi.nlm.nih.gov/Omim/searchomim.html. Type “Turner syndrome” (or synonyms) into the search box, and click “Submit Search.” If too many results appear, you can narrow the search by adding the word “clinical.” Each report will have additional links to related research and databases. In particular, the option “Database Links” will search across technical databases that offer an abundance of information. The following is an example of the results you can obtain from the OMIM for Turner syndrome: •

Gonadal Dysgenesis, Xx Type, with Deafness Web site: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?233400

•

Gonadal Dysgenesis, Xy Female Type Web site: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?306100 Genes and Disease (NCBI - Map)

The Genes and Disease database is produced by the National Center for Biotechnology Information of the National Library of Medicine at the National Institutes of Health. This Web site categorizes each disorder by system of the body. Go to http://www.ncbi.nlm.nih.gov/disease/, and browse the system pages to have a full view of important conditions linked to human genes. Since this site is regularly updated, you may wish to revisit it from time to time. The following systems and associated disorders are addressed: •

Cancer: Uncontrolled cell division. Examples: Breast and ovarian cancer, Burkitt lymphoma, chronic myeloid leukemia, colon cancer, lung cancer, malignant melanoma, multiple endocrine neoplasia, neurofibromatosis, p53 tumor suppressor, pancreatic cancer, prostate cancer, Ras oncogene, RB: retinoblastoma, von Hippel-Lindau syndrome. Web site: http://www.ncbi.nlm.nih.gov/disease/Cancer.html

•

Immune System: Fights invaders. Examples: Asthma, autoimmune polyglandular syndrome, Crohn’s disease, DiGeorge syndrome, familial Mediterranean fever, immunodeficiency with Hyper-IgM, severe combined immunodeficiency. Web site: http://www.ncbi.nlm.nih.gov/disease/Immune.html

•

Metabolism: Food and energy. Examples: Adreno-leukodystrophy, atherosclerosis, Best disease, Gaucher disease, glucose galactose malabsorption, gyrate atrophy, juvenile-onset diabetes, obesity, paroxysmal nocturnal hemoglobinuria, phenylketonuria, Refsum disease, Tangier disease, Tay-Sachs disease. Web site: http://www.ncbi.nlm.nih.gov/disease/Metabolism.html

•

Muscle and Bone: Movement and growth. Examples: Duchenne muscular dystrophy, Ellis-van Creveld syndrome, Marfan syndrome, myotonic dystrophy, spinal muscular atrophy. Web site: http://www.ncbi.nlm.nih.gov/disease/Muscle.html

•

Nervous System: Mind and body. Examples: Alzheimer disease, amyotrophic lateral sclerosis, Angelman syndrome, Charcot-Marie-Tooth disease, epilepsy, essential tremor, fragile X syndrome, Friedreich’s ataxia, Huntington disease, Niemann-Pick disease, Parkinson disease,

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Prader-Willi syndrome, Rett syndrome, spinocerebellar atrophy, Williams syndrome. Web site: http://www.ncbi.nlm.nih.gov/disease/Brain.html •

Signals: Cellular messages. Examples: Ataxia telangiectasia, Cockayne syndrome, glaucoma, male-patterned baldness, SRY: sex determination, tuberous sclerosis, Waardenburg syndrome, Werner syndrome. Web site: http://www.ncbi.nlm.nih.gov/disease/Signals.html

•

Transporters: Pumps and channels. Examples: Cystic fibrosis, deafness, diastrophic dysplasia, Hemophilia A, long-QT syndrome, Menkes syndrome, Pendred syndrome, polycystic kidney disease, sickle cell anemia, Wilson’s disease, Zellweger syndrome. Web site: http://www.ncbi.nlm.nih.gov/disease/Transporters.html Entrez

Entrez is a search and retrieval system that integrates several linked databases at the National Center for Biotechnology Information (NCBI). These databases include nucleotide sequences, protein sequences, macromolecular structures, whole genomes, and MEDLINE through PubMed. Entrez provides access to the following databases: •

3D Domains: Domains from Entrez Structure, Web site: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=geo

•

Books: Online books, Web site: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=books

•

Genome: Complete genome assemblies, Web site: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=Genome

•

NCBI’s Protein Sequence Information Survey Results: Web site: http://www.ncbi.nlm.nih.gov/About/proteinsurvey/

•

Nucleotide Sequence Database (Genbank): Web site: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=Nucleotide

•

OMIM: Online Mendelian Inheritance in Man, Web site: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM

•

PopSet: Population study data sets, Web site: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=Popset

•

ProbeSet: Gene Expression Omnibus (GEO), Web site: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=geo

•

Protein Sequence Database: Web site: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=Protein

•

PubMed: Biomedical literature (PubMed), Web site: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=PubMed

•

Structure: Three-dimensional macromolecular structures, Web site: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=Structure

•

Taxonomy: Organisms in GenBank, Web site: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=Taxonomy

100 Turner Syndrome

To access the Entrez system at the National Center for Biotechnology Information, go to http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?CMD=search&DB=genome, and then select the database that you would like to search. The databases available are listed in the drop box next to “Search.” Enter “Turner syndrome” (or synonyms) into the search box and click “Go.” Jablonski’s Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes Database19 This online resource has been developed to facilitate the identification and differentiation of syndromic entities. Special attention is given to the type of information that is usually limited or completely omitted in existing reference sources due to space limitations of the printed form. At http://www.nlm.nih.gov/mesh/jablonski/syndrome_toc/toc_a.html, you can search across syndromes using an alphabetical index. Search by keywords at http://www.nlm.nih.gov/mesh/jablonski/syndrome_db.html. The Genome Database20 Established at Johns Hopkins University in Baltimore, Maryland in 1990, the Genome Database (GDB) is the official central repository for genomic mapping data resulting from the Human Genome Initiative. In the spring of 1999, the Bioinformatics Supercomputing Centre (BiSC) at the Hospital for Sick Children in Toronto, Ontario assumed the management of GDB. The Human Genome Initiative is a worldwide research effort focusing on structural analysis of human DNA to determine the location and sequence of the estimated 100,000 human genes. In support of this project, GDB stores and curates data generated by researchers worldwide who are engaged in the mapping effort of the Human Genome Project (HGP). GDB’s mission is to provide scientists with an encyclopedia of the human genome which is continually revised and updated to reflect the current state of scientific knowledge. Although GDB has historically focused on gene mapping, its focus will broaden as the Genome Project moves from mapping to sequence, and finally, to functional analysis. To access the GDB, simply go to the following hyperlink: http://www.gdb.org/. Search “All Biological Data” by “Keyword.” Type “Turner syndrome” (or synonyms) into the search box, and review the results. If more than one word is used in the search box, then separate each one with the word “and” or “or” (using “or” might be useful when using synonyms).

19 Adapted from the National Library of Medicine: http://www.nlm.nih.gov/mesh/jablonski/about_syndrome.html. 20 Adapted from the Genome Database: http://gdbwww.gdb.org/gdb/aboutGDB.html - mission.

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APPENDIX B. PATIENT RESOURCES Overview Official agencies, as well as federally funded institutions supported by national grants, frequently publish a variety of guidelines written with the patient in mind. These are typically called “Fact Sheets” or “Guidelines.” They can take the form of a brochure, information kit, pamphlet, or flyer. Often they are only a few pages in length. Since new guidelines on Turner syndrome can appear at any moment and be published by a number of sources, the best approach to finding guidelines is to systematically scan the Internet-based services that post them.

Patient Guideline Sources The remainder of this chapter directs you to sources which either publish or can help you find additional guidelines on topics related to Turner syndrome. Due to space limitations, these sources are listed in a concise manner. Do not hesitate to consult the following sources by either using the Internet hyperlink provided, or, in cases where the contact information is provided, contacting the publisher or author directly. The National Institutes of Health The NIH gateway to patients is located at http://health.nih.gov/. From this site, you can search across various sources and institutes, a number of which are summarized below. Topic Pages: MEDLINEplus The National Library of Medicine has created a vast and patient-oriented healthcare information portal called MEDLINEplus. Within this Internet-based system are “health topic pages” which list links to available materials relevant to Turner syndrome. To access this system, log on to http://www.nlm.nih.gov/medlineplus/healthtopics.html. From there you can either search using the alphabetical index or browse by broad topic areas. Recently, MEDLINEplus listed the following when searched for “Turner syndrome”:

102 Turner Syndrome

•

Guides on Turner syndrome Turner's Syndrome http://www.nlm.nih.gov/medlineplus/turnerssyndrome.html

•

Other guides Birth Defects http://www.nlm.nih.gov/medlineplus/birthdefects.html Cystic Fibrosis http://www.nlm.nih.gov/medlineplus/cysticfibrosis.html Down Syndrome http://www.nlm.nih.gov/medlineplus/downsyndrome.html Genes and Gene Therapy http://www.nlm.nih.gov/medlineplus/genesandgenetherapy.html Genetic Brain Disorders http://www.nlm.nih.gov/medlineplus/geneticbraindisorders.html Genetic Disorders http://www.nlm.nih.gov/medlineplus/geneticdisorders.html Genetic Testing/Counseling http://www.nlm.nih.gov/medlineplus/genetictestingcounseling.html Prader-Willi Syndrome http://www.nlm.nih.gov/medlineplus/praderwillisyndrome.html

You may also choose to use the search utility provided by MEDLINEplus at the following Web address: http://www.nlm.nih.gov/medlineplus/. Simply type a keyword into the search box and click “Search.” This utility is similar to the NIH search utility, with the exception that it only includes materials that are linked within the MEDLINEplus system (mostly patient-oriented information). It also has the disadvantage of generating unstructured results. We recommend, therefore, that you use this method only if you have a very targeted search. The Combined Health Information Database (CHID) CHID Online is a reference tool that maintains a database directory of thousands of journal articles and patient education guidelines on Turner syndrome. CHID offers summaries that describe the guidelines available, including contact information and pricing. CHID’s general Web site is http://chid.nih.gov/. To search this database, go to http://chid.nih.gov/detail/detail.html. In particular, you can use the advanced search options to look up pamphlets, reports, brochures, and information kits. The following was recently posted in this archive: •

Turner Syndrome and Short Stature Source: Minneapolis, MN: Turner's Syndrome Society. 1997. [2 p.]. Contact: Available from Turner's Syndrome Society. 1313 SE Fifth Street, Suite 327, Minneapolis, MN 55414. (800) 365-9944. PRICE: Single copy free.

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Summary: This brochure describes Turner Syndrome, a chromosomal condition that exclusively affects females. The main features of Turner Syndrome are short stature, a lack of ovarian development, webbed neck, low hairline, systemic problems (cardiovascular, kidney, thyroid), skeletal disorders, and hearing and ear disturbances. The brochure, written in a question and answer format, discusses the incidence of Turner syndrome, the causes of the short stature associated with Turner syndrome, the process of retarded growth in this population, and the options for drug therapy for the short stature of Turner syndrome (including risk factors associated with the growth hormone used). The brochure notes that the cost of growth hormone therapy should be eligible for reimbursement by most health insurance coverage. The brochure concludes with the toll free telephone number of the Turner's Syndrome Society (800-365-9944). 4 references. The National Guideline Clearinghouse™ The National Guideline Clearinghouse™ offers hundreds of evidence-based clinical practice guidelines published in the United States and other countries. You can search this site located at http://www.guideline.gov/ by using the keyword “Turner syndrome” (or synonyms). The following was recently posted: •

Health supervision for children with Turner syndrome Source: American Academy of Pediatrics - Medical Specialty Society; 2003 March; 11 pages http://www.guideline.gov/summary/summary.aspx?doc_id=3695&nbr=2921&a mp;string=Turner+AND+syndrome Healthfinder™

Healthfinder™ is sponsored by the U.S. Department of Health and Human Services and offers links to hundreds of other sites that contain healthcare information. This Web site is located at http://www.healthfinder.gov. Again, keyword searches can be used to find guidelines. The following was recently found in this database: •

FAQ - About Turner Syndrome Summary: Answers to consumers' most commonly asked questions about Turner Syndrome -- a chromosomal condition that causes short stature and infertility in women and girls. Source: Turner Syndrome Society of the United States http://www.healthfinder.gov/scripts/recordpass.asp?RecordType=0&RecordID=2681 The NIH Search Utility

The NIH search utility allows you to search for documents on over 100 selected Web sites that comprise the NIH-WEB-SPACE. Each of these servers is “crawled” and indexed on an ongoing basis. Your search will produce a list of various documents, all of which will relate in some way to Turner syndrome. The drawbacks of this approach are that the information is not organized by theme and that the references are often a mix of information for professionals and patients. Nevertheless, a large number of the listed Web sites provide

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useful background information. We can only recommend this route, therefore, for relatively rare or specific disorders, or when using highly targeted searches. To use the NIH search utility, visit the following Web page: http://search.nih.gov/index.html. PEDBASE Similar to NORD, PEDBASE covers relatively rare disorders, limited mainly to pediatric conditions. PEDBASE was designed by Dr. Alan Gandy. To access the database, which is more oriented to researchers than patients, you can view the current list of health topics covered at the following Web site: http://www.icondata.com/health/pedbase/pedlynx.htm. Additional Web Sources A number of Web sites are available to the public that often link to government sites. These can also point you in the direction of essential information. The following is a representative sample: •


•

Family Village: http://www.familyvillage.wisc.edu/specific.htm

•

Google: http://directory.google.com/Top/Health/Conditions_and_Diseases/

•

Med Help International: http://www.medhelp.org/HealthTopics/A.html

•

Open Directory Project: http://dmoz.org/Health/Conditions_and_Diseases/

•

Yahoo.com: http://dir.yahoo.com/Health/Diseases_and_Conditions/

•

WebMDHealth: http://my.webmd.com/health_topics

Associations and Turner Syndrome The following is a list of associations that provide information on and resources relating to Turner syndrome: •

Turner Syndrome Society of the United States Telephone: (832) 249-9988 Toll-free: (800) 365-9944 Fax: (832) 249-9987 Email: [email protected] Web Site: http://www.turner-syndrome-us.org Background: Established in 1988, the Turner s Syndrome Society of the United States is a national not-for-profit self-help organization dedicated to increasing awareness and understanding of Turner s Syndrome and providing an active networking program for affected individuals. Turner s Syndrome is a rare chromosomal disorder in females that is characterized by the absence or abnormalities of one X chromosome. Symptoms may include short stature, lack of sexual development at puberty, a webbed neck, heart defects, and/or other abnormalities. The Society makes referrals to appropriate support and treatment centers and promotes the continuing education of physicians and other health care professionals. In addition, the organization supports ongoing medical research and enables individuals with Turner s Syndrome to exchange information,

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support, and resources through its networking program. The Turner s Syndrome Society also offers a variety of educational materials including a regular newsletter, audiovisual aids and brochures. Relevant area(s) of interest: Turner Syndrome, XO Syndrome

Finding Associations There are several Internet directories that provide lists of medical associations with information on or resources relating to Turner syndrome. By consulting all of associations listed in this chapter, you will have nearly exhausted all sources for patient associations concerned with Turner syndrome. The National Health Information Center (NHIC) The National Health Information Center (NHIC) offers a free referral service to help people find organizations that provide information about Turner syndrome. For more information, see the NHIC’s Web site at http://www.health.gov/NHIC/ or contact an information specialist by calling 1-800-336-4797. Directory of Health Organizations The Directory of Health Organizations, provided by the National Library of Medicine Specialized Information Services, is a comprehensive source of information on associations. The Directory of Health Organizations database can be accessed via the Internet at http://www.sis.nlm.nih.gov/Dir/DirMain.html. It is composed of two parts: DIRLINE and Health Hotlines. The DIRLINE database comprises some 10,000 records of organizations, research centers, and government institutes and associations that primarily focus on health and biomedicine. To access DIRLINE directly, go to the following Web site: http://dirline.nlm.nih.gov/. Simply type in “Turner syndrome” (or a synonym), and you will receive information on all relevant organizations listed in the database. Health Hotlines directs you to toll-free numbers to over 300 organizations. You can access this database directly at http://www.sis.nlm.nih.gov/hotlines/. On this page, you are given the option to search by keyword or by browsing the subject list. When you have received your search results, click on the name of the organization for its description and contact information. The Combined Health Information Database Another comprehensive source of information on healthcare associations is the Combined Health Information Database. Using the “Detailed Search” option, you will need to limit your search to “Organizations” and “Turner syndrome”. Type the following hyperlink into your Web browser: http://chid.nih.gov/detail/detail.html. To find associations, use the drop boxes at the bottom of the search page where “You may refine your search by.” For publication date, select “All Years.” Then, select your preferred language and the format

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option “Organization Resource Sheet.” Type “Turner syndrome” (or synonyms) into the “For these words:” box. You should check back periodically with this database since it is updated every three months. The National Organization for Rare Disorders, Inc. The National Organization for Rare Disorders, Inc. has prepared a Web site that provides, at no charge, lists of associations organized by health topic. You can access this database at the following Web site: http://www.rarediseases.org/search/orgsearch.html. Type “Turner syndrome” (or a synonym) into the search box, and click “Submit Query.”

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APPENDIX C. FINDING MEDICAL LIBRARIES Overview In this Appendix, we show you how to quickly find a medical library in your area.

Preparation Your local public library and medical libraries have interlibrary loan programs with the National Library of Medicine (NLM), one of the largest medical collections in the world. According to the NLM, most of the literature in the general and historical collections of the National Library of Medicine is available on interlibrary loan to any library. If you would like to access NLM medical literature, then visit a library in your area that can request the publications for you.21

Finding a Local Medical Library The quickest method to locate medical libraries is to use the Internet-based directory published by the National Network of Libraries of Medicine (NN/LM). This network includes 4626 members and affiliates that provide many services to librarians, health professionals, and the public. To find a library in your area, simply visit http://nnlm.gov/members/adv.html or call 1-800-338-7657.

Medical Libraries in the U.S. and Canada In addition to the NN/LM, the National Library of Medicine (NLM) lists a number of libraries with reference facilities that are open to the public. The following is the NLM’s list and includes hyperlinks to each library’s Web site. These Web pages can provide information on hours of operation and other restrictions. The list below is a small sample of

21

Adapted from the NLM: http://www.nlm.nih.gov/psd/cas/interlibrary.html.

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libraries recommended by the National Library of Medicine (sorted alphabetically by name of the U.S. state or Canadian province where the library is located)22: •

Alabama: Health InfoNet of Jefferson County (Jefferson County Library Cooperative, Lister Hill Library of the Health Sciences), http://www.uab.edu/infonet/

•

Alabama: Richard M. Scrushy Library (American Sports Medicine Institute)

•

Arizona: Samaritan Regional Medical Center: The Learning Center (Samaritan Health System, Phoenix, Arizona), http://www.samaritan.edu/library/bannerlibs.htm

•

California: Kris Kelly Health Information Center (St. Joseph Health System, Humboldt), http://www.humboldt1.com/~kkhic/index.html

•

California: Community Health Library of Los Gatos, http://www.healthlib.org/orgresources.html

•

California: Consumer Health Program and Services (CHIPS) (County of Los Angeles Public Library, Los Angeles County Harbor-UCLA Medical Center Library) - Carson, CA, http://www.colapublib.org/services/chips.html

•

California: Gateway Health Library (Sutter Gould Medical Foundation)

•

California: Health Library (Stanford University Medical Center), http://wwwmed.stanford.edu/healthlibrary/

•

California: Patient Education Resource Center - Health Information and Resources (University of California, San Francisco), http://sfghdean.ucsf.edu/barnett/PERC/default.asp

•

California: Redwood Health Library (Petaluma Health Care District), http://www.phcd.org/rdwdlib.html

•

California: Los Gatos PlaneTree Health Library, http://planetreesanjose.org/

•

California: Sutter Resource Library (Sutter Hospitals Foundation, Sacramento), http://suttermedicalcenter.org/library/

•

California: Health Sciences Libraries (University of California, Davis), http://www.lib.ucdavis.edu/healthsci/

•

California: ValleyCare Health Library & Ryan Comer Cancer Resource Center (ValleyCare Health System, Pleasanton), http://gaelnet.stmarysca.edu/other.libs/gbal/east/vchl.html

•

California: Washington Community Health Resource Library (Fremont), http://www.healthlibrary.org/

•

Colorado: William V. Gervasini Memorial Library (Exempla Healthcare), http://www.saintjosephdenver.org/yourhealth/libraries/

•

Connecticut: Hartford Hospital Health Science Libraries (Hartford Hospital), http://www.harthosp.org/library/

•

Connecticut: Healthnet: Connecticut Consumer Health Information Center (University of Connecticut Health Center, Lyman Maynard Stowe Library), http://library.uchc.edu/departm/hnet/

22

Abstracted from http://www.nlm.nih.gov/medlineplus/libraries.html.

Finding Medical Libraries

109

•

Connecticut: Waterbury Hospital Health Center Library (Waterbury Hospital, Waterbury), http://www.waterburyhospital.com/library/consumer.shtml

•

Delaware: Consumer Health Library (Christiana Care Health System, Eugene du Pont Preventive Medicine & Rehabilitation Institute, Wilmington), http://www.christianacare.org/health_guide/health_guide_pmri_health_info.cfm

•

Delaware: Lewis B. Flinn Library (Delaware Academy of Medicine, Wilmington), http://www.delamed.org/chls.html

•

Georgia: Family Resource Library (Medical College of Georgia, Augusta), http://cmc.mcg.edu/kids_families/fam_resources/fam_res_lib/frl.htm

•

Georgia: Health Resource Center (Medical Center of Central Georgia, Macon), http://www.mccg.org/hrc/hrchome.asp

•

Hawaii: Hawaii Medical Library: Consumer Health Information Service (Hawaii Medical Library, Honolulu), http://hml.org/CHIS/

•

Idaho: DeArmond Consumer Health Library (Kootenai Medical Center, Coeur d’Alene), http://www.nicon.org/DeArmond/index.htm

•

Illinois: Health Learning Center of Northwestern Memorial Hospital (Chicago), http://www.nmh.org/health_info/hlc.html

•

Illinois: Medical Library (OSF Saint Francis Medical Center, Peoria), http://www.osfsaintfrancis.org/general/library/

•

Kentucky: Medical Library - Services for Patients, Families, Students & the Public (Central Baptist Hospital, Lexington), http://www.centralbap.com/education/community/library.cfm

•

Kentucky: University of Kentucky - Health Information Library (Chandler Medical Center, Lexington), http://www.mc.uky.edu/PatientEd/

•

Louisiana: Alton Ochsner Medical Foundation Library (Alton Ochsner Medical Foundation, New Orleans), http://www.ochsner.org/library/

•

Louisiana: Louisiana State University Health Sciences Center Medical LibraryShreveport, http://lib-sh.lsuhsc.edu/

•

Maine: Franklin Memorial Hospital Medical Library (Franklin Memorial Hospital, Farmington), http://www.fchn.org/fmh/lib.htm

•

Maine: Gerrish-True Health Sciences Library (Central Maine Medical Center, Lewiston), http://www.cmmc.org/library/library.html

•

Maine: Hadley Parrot Health Science Library (Eastern Maine Healthcare, Bangor), http://www.emh.org/hll/hpl/guide.htm

•

Maine: Maine Medical Center Library (Maine Medical Center, Portland), http://www.mmc.org/library/

•

Maine: Parkview Hospital (Brunswick), http://www.parkviewhospital.org/

•

Maine: Southern Maine Medical Center Health Sciences Library (Southern Maine Medical Center, Biddeford), http://www.smmc.org/services/service.php3?choice=10

•

Maine: Stephens Memorial Hospital’s Health Information Library (Western Maine Health, Norway), http://www.wmhcc.org/Library/

110 Turner Syndrome

•

Manitoba, Canada: Consumer & Patient Health Information Service (University of Manitoba Libraries), http://www.umanitoba.ca/libraries/units/health/reference/chis.html

•

Manitoba, Canada: J.W. Crane Memorial Library (Deer Lodge Centre, Winnipeg), http://www.deerlodge.mb.ca/crane_library/about.asp

•

Maryland: Health Information Center at the Wheaton Regional Library (Montgomery County, Dept. of Public Libraries, Wheaton Regional Library), http://www.mont.lib.md.us/healthinfo/hic.asp

•

Massachusetts: Baystate Medical Center Library (Baystate Health System), http://www.baystatehealth.com/1024/

•

Massachusetts: Boston University Medical Center Alumni Medical Library (Boston University Medical Center), http://med-libwww.bu.edu/library/lib.html

•

Massachusetts: Lowell General Hospital Health Sciences Library (Lowell General Hospital, Lowell), http://www.lowellgeneral.org/library/HomePageLinks/WWW.htm

•

Massachusetts: Paul E. Woodard Health Sciences Library (New England Baptist Hospital, Boston), http://www.nebh.org/health_lib.asp

•

Massachusetts: St. Luke’s Hospital Health Sciences Library (St. Luke’s Hospital, Southcoast Health System, New Bedford), http://www.southcoast.org/library/

•

Massachusetts: Treadwell Library Consumer Health Reference Center (Massachusetts General Hospital), http://www.mgh.harvard.edu/library/chrcindex.html

•

Massachusetts: UMass HealthNet (University of Massachusetts Medical School, Worchester), http://healthnet.umassmed.edu/

•

Michigan: Botsford General Hospital Library - Consumer Health (Botsford General Hospital, Library & Internet Services), http://www.botsfordlibrary.org/consumer.htm

•

Michigan: Helen DeRoy Medical Library (Providence Hospital and Medical Centers), http://www.providence-hospital.org/library/

•

Michigan: Marquette General Hospital - Consumer Health Library (Marquette General Hospital, Health Information Center), http://www.mgh.org/center.html

•

Michigan: Patient Education Resouce Center - University of Michigan Cancer Center (University of Michigan Comprehensive Cancer Center, Ann Arbor), http://www.cancer.med.umich.edu/learn/leares.htm

•

Michigan: Sladen Library & Center for Health Information Resources - Consumer Health Information (Detroit), http://www.henryford.com/body.cfm?id=39330

•

Montana: Center for Health Information (St. Patrick Hospital and Health Sciences Center, Missoula)

•

National: Consumer Health Library Directory (Medical Library Association, Consumer and Patient Health Information Section), http://caphis.mlanet.org/directory/index.html

•

National: National Network of Libraries of Medicine (National Library of Medicine) provides library services for health professionals in the United States who do not have access to a medical library, http://nnlm.gov/

•

National: NN/LM List of Libraries Serving the Public (National Network of Libraries of Medicine), http://nnlm.gov/members/

Finding Medical Libraries

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Nevada: Health Science Library, West Charleston Library (Las Vegas-Clark County Library District, Las Vegas), http://www.lvccld.org/special_collections/medical/index.htm

•

New Hampshire: Dartmouth Biomedical Libraries (Dartmouth College Library, Hanover), http://www.dartmouth.edu/~biomed/resources.htmld/conshealth.htmld/

•

New Jersey: Consumer Health Library (Rahway Hospital, Rahway), http://www.rahwayhospital.com/library.htm

•

New Jersey: Dr. Walter Phillips Health Sciences Library (Englewood Hospital and Medical Center, Englewood), http://www.englewoodhospital.com/links/index.htm

•

New Jersey: Meland Foundation (Englewood Hospital and Medical Center, Englewood), http://www.geocities.com/ResearchTriangle/9360/

•

New York: Choices in Health Information (New York Public Library) - NLM Consumer Pilot Project participant, http://www.nypl.org/branch/health/links.html

•

New York: Health Information Center (Upstate Medical University, State University of New York, Syracuse), http://www.upstate.edu/library/hic/

•

New York: Health Sciences Library (Long Island Jewish Medical Center, New Hyde Park), http://www.lij.edu/library/library.html

•

New York: ViaHealth Medical Library (Rochester General Hospital), http://www.nyam.org/library/

•

Ohio: Consumer Health Library (Akron General Medical Center, Medical & Consumer Health Library), http://www.akrongeneral.org/hwlibrary.htm

•

Oklahoma: The Health Information Center at Saint Francis Hospital (Saint Francis Health System, Tulsa), http://www.sfh-tulsa.com/services/healthinfo.asp

•

Oregon: Planetree Health Resource Center (Mid-Columbia Medical Center, The Dalles), http://www.mcmc.net/phrc/

•

Pennsylvania: Community Health Information Library (Milton S. Hershey Medical Center, Hershey), http://www.hmc.psu.edu/commhealth/

•

Pennsylvania: Community Health Resource Library (Geisinger Medical Center, Danville), http://www.geisinger.edu/education/commlib.shtml

•

Pennsylvania: HealthInfo Library (Moses Taylor Hospital, Scranton), http://www.mth.org/healthwellness.html

•

Pennsylvania: Hopwood Library (University of Pittsburgh, Health Sciences Library System, Pittsburgh), http://www.hsls.pitt.edu/guides/chi/hopwood/index_html

•

Pennsylvania: Koop Community Health Information Center (College of Physicians of Philadelphia), http://www.collphyphil.org/kooppg1.shtml

•

Pennsylvania: Learning Resources Center - Medical Library (Susquehanna Health System, Williamsport), http://www.shscares.org/services/lrc/index.asp

•

Pennsylvania: Medical Library (UPMC Health System, Pittsburgh), http://www.upmc.edu/passavant/library.htm

•

Quebec, Canada: Medical Library (Montreal General Hospital), http://www.mghlib.mcgill.ca/

112 Turner Syndrome

•

South Dakota: Rapid City Regional Hospital Medical Library (Rapid City Regional Hospital), http://www.rcrh.org/Services/Library/Default.asp

•

Texas: Houston HealthWays (Houston Academy of Medicine-Texas Medical Center Library), http://hhw.library.tmc.edu/

•

Washington: Community Health Library (Kittitas Valley Community Hospital), http://www.kvch.com/

•

Washington: Southwest Washington Medical Center Library (Southwest Washington Medical Center, Vancouver), http://www.swmedicalcenter.com/body.cfm?id=72

113

ONLINE GLOSSARIES The Internet provides access to a number of free-to-use medical dictionaries. The National Library of Medicine has compiled the following list of online dictionaries: •

ADAM Medical Encyclopedia (A.D.A.M., Inc.), comprehensive medical reference: http://www.nlm.nih.gov/medlineplus/encyclopedia.html

•

MedicineNet.com Medical Dictionary (MedicineNet, Inc.): http://www.medterms.com/Script/Main/hp.asp

•

Merriam-Webster Medical Dictionary (Inteli-Health, Inc.): http://www.intelihealth.com/IH/

•

Multilingual Glossary of Technical and Popular Medical Terms in Eight European Languages (European Commission) - Danish, Dutch, English, French, German, Italian, Portuguese, and Spanish: http://allserv.rug.ac.be/~rvdstich/eugloss/welcome.html

•

On-line Medical Dictionary (CancerWEB): http://cancerweb.ncl.ac.uk/omd/

•

Rare Diseases Terms (Office of Rare Diseases): http://ord.aspensys.com/asp/diseases/diseases.asp

•

Technology Glossary (National Library of Medicine) - Health Care Technology: http://www.nlm.nih.gov/nichsr/ta101/ta10108.htm

Beyond these, MEDLINEplus contains a very patient-friendly encyclopedia covering every aspect of medicine (licensed from A.D.A.M., Inc.). The ADAM Medical Encyclopedia can be accessed at http://www.nlm.nih.gov/medlineplus/encyclopedia.html. ADAM is also available on commercial Web sites such as drkoop.com (http://www.drkoop.com/) and Web MD (http://my.webmd.com/adam/asset/adam_disease_articles/a_to_z/a). The NIH suggests the following Web sites in the ADAM Medical Encyclopedia when searching for information on Turner syndrome: •

Basic Guidelines for Turner Syndrome Turner syndrome Web site: http://www.nlm.nih.gov/medlineplus/ency/article/000379.htm

•

Signs & Symptoms for Turner Syndrome Drooping of eyelids Web site: http://www.nlm.nih.gov/medlineplus/ency/article/003035.htm High blood pressure Web site: http://www.nlm.nih.gov/medlineplus/ency/article/003082.htm Menstruation, absent Web site: http://www.nlm.nih.gov/medlineplus/ency/article/003149.htm Obesity Web site: http://www.nlm.nih.gov/medlineplus/ency/article/003101.htm

114 Turner Syndrome

Short stature Web site: http://www.nlm.nih.gov/medlineplus/ency/article/003271.htm Tearing, decreased Web site: http://www.nlm.nih.gov/medlineplus/ency/article/003087.htm •

Diagnostics and Tests for Turner Syndrome ALT Web site: http://www.nlm.nih.gov/medlineplus/ency/article/003473.htm Estradiol - test Web site: http://www.nlm.nih.gov/medlineplus/ency/article/003711.htm Follicle stimulating hormone Web site: http://www.nlm.nih.gov/medlineplus/ency/article/003710.htm Growth hormone Web site: http://www.nlm.nih.gov/medlineplus/ency/article/003706.htm Karyotyping Web site: http://www.nlm.nih.gov/medlineplus/ency/article/003935.htm Luteinizing hormone Web site: http://www.nlm.nih.gov/medlineplus/ency/article/003708.htm Serum follicle stimulating hormone Web site: http://www.nlm.nih.gov/medlineplus/ency/article/003710.htm Serum luteinizing hormone Web site: http://www.nlm.nih.gov/medlineplus/ency/article/003708.htm

•

Background Topics for Turner Syndrome Physical examination Web site: http://www.nlm.nih.gov/medlineplus/ency/article/002274.htm

Online Dictionary Directories The following are additional online directories compiled by the National Library of Medicine, including a number of specialized medical dictionaries: •

Medical Dictionaries: Medical & Biological (World Health Organization): http://www.who.int/hlt/virtuallibrary/English/diction.htm#Medical

•

MEL-Michigan Electronic Library List of Online Health and Medical Dictionaries (Michigan Electronic Library): http://mel.lib.mi.us/health/health-dictionaries.html

•

Patient Education: Glossaries (DMOZ Open Directory Project): http://dmoz.org/Health/Education/Patient_Education/Glossaries/

Online Glossaries 115

•

Web of Online Dictionaries (Bucknell University): http://www.yourdictionary.com/diction5.html#medicine

117

TURNER SYNDROME DICTIONARY The definitions below are derived from official public sources, including the National Institutes of Health [NIH] and the European Union [EU]. Abdomen: That portion of the body that lies between the thorax and the pelvis. [NIH] ACE: Angiotensin-coverting enzyme. A drug used to decrease pressure inside blood vessels. [NIH]

Adipocytes: Fat-storing cells found mostly in the abdominal cavity and subcutaneous tissue. Fat is usually stored in the form of tryglycerides. [NIH] Adjustment: The dynamic process wherein the thoughts, feelings, behavior, and biophysiological mechanisms of the individual continually change to adjust to the environment. [NIH] Adolescence: The period of life beginning with the appearance of secondary sex characteristics and terminating with the cessation of somatic growth. The years usually referred to as adolescence lie between 13 and 18 years of age. [NIH] Adolescent Psychiatry: The medical science that deals with the origin, diagnosis, prevention, and treatment of mental disorders in individuals 13-18 years. [NIH] Adrenal Cortex: The outer layer of the adrenal gland. It secretes mineralocorticoids, androgens, and glucocorticoids. [NIH] Adverse Effect: An unwanted side effect of treatment. [NIH] Afferent: Concerned with the transmission of neural impulse toward the central part of the nervous system. [NIH] Agenesis: Lack of complete or normal development; congenital absence of an organ or part. [NIH]

Albumin: 1. Any protein that is soluble in water and moderately concentrated salt solutions and is coagulable by heat. 2. Serum albumin; the major plasma protein (approximately 60 per cent of the total), which is responsible for much of the plasma colloidal osmotic pressure and serves as a transport protein carrying large organic anions, such as fatty acids, bilirubin, and many drugs, and also carrying certain hormones, such as cortisol and thyroxine, when their specific binding globulins are saturated. Albumin is synthesized in the liver. Low serum levels occur in protein malnutrition, active inflammation and serious hepatic and renal disease. [EU] Algorithms: A procedure consisting of a sequence of algebraic formulas and/or logical steps to calculate or determine a given task. [NIH] Alkaline: Having the reactions of an alkali. [EU] Alkaline Phosphatase: An enzyme that catalyzes the conversion of an orthophosphoric monoester and water to an alcohol and orthophosphate. EC 3.1.3.1. [NIH] Alpha Particles: Positively charged particles composed of two protons and two neutrons, i.e., helium nuclei, emitted during disintegration of very heavy isotopes; a beam of alpha particles or an alpha ray has very strong ionizing power, but weak penetrability. [NIH] Alpha-fetoprotein: AFP. A protein normally produced by a developing fetus. AFP levels are usually undetectable in the blood of healthy nonpregnant adults. An elevated level of AFP suggests the presence of either a primary liver cancer or germ cell tumor. [NIH] Alternative medicine: Practices not generally recognized by the medical community as

118 Turner Syndrome

standard or conventional medical approaches and used instead of standard treatments. Alternative medicine includes the taking of dietary supplements, megadose vitamins, and herbal preparations; the drinking of special teas; and practices such as massage therapy, magnet therapy, spiritual healing, and meditation. [NIH] Aluminum: A metallic element that has the atomic number 13, atomic symbol Al, and atomic weight 26.98. [NIH] Alveoli: Tiny air sacs at the end of the bronchioles in the lungs. [NIH] Amenorrhea: Absence of menstruation. [NIH] Amino Acid Sequence: The order of amino acids as they occur in a polypeptide chain. This is referred to as the primary structure of proteins. It is of fundamental importance in determining protein conformation. [NIH] Amygdala: Almond-shaped group of basal nuclei anterior to the inferior horn of the lateral ventricle of the brain, within the temporal lobe. The amygdala is part of the limbic system. [NIH]

Amyotrophy: A type of diabetic neuropathy that causes muscle weakness and wasting. [NIH] Anabolic: Relating to, characterized by, or promoting anabolism. [EU] Anal: Having to do with the anus, which is the posterior opening of the large bowel. [NIH] Anatomical: Pertaining to anatomy, or to the structure of the organism. [EU] Androgenic: Producing masculine characteristics. [EU] Androgens: A class of sex hormones associated with the development and maintenance of the secondary male sex characteristics, sperm induction, and sexual differentiation. In addition to increasing virility and libido, they also increase nitrogen and water retention and stimulate skeletal growth. [NIH] Anemia: A reduction in the number of circulating erythrocytes or in the quantity of hemoglobin. [NIH] Aneuploidy: The chromosomal constitution of cells which deviate from the normal by the addition or subtraction of chromosomes or chromosome pairs. In a normally diploid cell the loss of a chromosome pair is termed nullisomy (symbol: 2N-2), the loss of a single chromosome is monosomy (symbol: 2N-1), the addition of a chromosome pair is tetrasomy (symbol: 2N+2), the addition of a single chromosome is trisomy (symbol: 2N+1). [NIH] Aneurysm: A sac formed by the dilatation of the wall of an artery, a vein, or the heart. [NIH] Anions: Negatively charged atoms, radicals or groups of atoms which travel to the anode or positive pole during electrolysis. [NIH] Annealing: The spontaneous alignment of two single DNA strands to form a double helix. [NIH]

Anomalies: Birth defects; abnormalities. [NIH] Antibiotic: A drug used to treat infections caused by bacteria and other microorganisms. [NIH]

Antibiotic Prophylaxis: Use of antibiotics before, during, or after a diagnostic, therapeutic, or surgical procedure to prevent infectious complications. [NIH] Antibodies: Immunoglobulin molecules having a specific amino acid sequence by virtue of which they interact only with the antigen that induced their synthesis in cells of the lymphoid series (especially plasma cells), or with an antigen closely related to it. [NIH] Antibody: A type of protein made by certain white blood cells in response to a foreign substance (antigen). Each antibody can bind to only a specific antigen. The purpose of this

Dictionary 119

binding is to help destroy the antigen. Antibodies can work in several ways, depending on the nature of the antigen. Some antibodies destroy antigens directly. Others make it easier for white blood cells to destroy the antigen. [NIH] Anticoagulant: A drug that helps prevent blood clots from forming. Also called a blood thinner. [NIH] Antigen: Any substance which is capable, under appropriate conditions, of inducing a specific immune response and of reacting with the products of that response, that is, with specific antibody or specifically sensitized T-lymphocytes, or both. Antigens may be soluble substances, such as toxins and foreign proteins, or particulate, such as bacteria and tissue cells; however, only the portion of the protein or polysaccharide molecule known as the antigenic determinant (q.v.) combines with antibody or a specific receptor on a lymphocyte. Abbreviated Ag. [EU] Antiviral: Destroying viruses or suppressing their replication. [EU] Anxiety: Persistent feeling of dread, apprehension, and impending disaster. [NIH] Aorta: The main trunk of the systemic arteries. [NIH] Aortic Coarctation: Narrowing of the lumen of the aorta, caused by deformity of the aortic media. [NIH] Aortic Rupture: Tearing of aortic tissue. It may be rupture of an aneurysm or it may be due to trauma. [NIH] Aortic Valve: The valve between the left ventricle and the ascending aorta which prevents backflow into the left ventricle. [NIH] Aqueous: Having to do with water. [NIH] Arterial: Pertaining to an artery or to the arteries. [EU] Arteries: The vessels carrying blood away from the heart. [NIH] Arterioles: The smallest divisions of the arteries located between the muscular arteries and the capillaries. [NIH] Arthroplasty: Surgical reconstruction of a joint to relieve pain or restore motion. [NIH] Articulation: The relationship of two bodies by means of a moveable joint. [NIH] Ascites: Accumulation or retention of free fluid within the peritoneal cavity. [NIH] Ataxia: Impairment of the ability to perform smoothly coordinated voluntary movements. This condition may affect the limbs, trunk, eyes, pharnyx, larnyx, and other structures. Ataxia may result from impaired sensory or motor function. Sensory ataxia may result from posterior column injury or peripheral nerve diseases. Motor ataxia may be associated with cerebellar diseases; cerebral cortex diseases; thalamic diseases; basal ganglia diseases; injury to the red nucleus; and other conditions. [NIH] Atrophy: Decrease in the size of a cell, tissue, organ, or multiple organs, associated with a variety of pathological conditions such as abnormal cellular changes, ischemia, malnutrition, or hormonal changes. [NIH] Atypical: Irregular; not conformable to the type; in microbiology, applied specifically to strains of unusual type. [EU] Audiovisual Aids: Auditory and visual instructional materials. [NIH] Auditory: Pertaining to the sense of hearing. [EU] Autoantibodies: Antibodies that react with self-antigens (autoantigens) of the organism that produced them. [NIH] Autoantigens: Endogenous tissue constituents that have the ability to interact with

120 Turner Syndrome

autoantibodies and cause an immune response. [NIH] Bacteria: Unicellular prokaryotic microorganisms which generally possess rigid cell walls, multiply by cell division, and exhibit three principal forms: round or coccal, rodlike or bacillary, and spiral or spirochetal. [NIH] Bacteriuria: The presence of bacteria in the urine with or without consequent urinary tract infection. Since bacteriuria is a clinical entity, the term does not preclude the use of urine/microbiology for technical discussions on the isolation and segregation of bacteria in the urine. [NIH] Basal Ganglia: Large subcortical nuclear masses derived from the telencephalon and located in the basal regions of the cerebral hemispheres. [NIH] Basal Ganglia Diseases: Diseases of the basal ganglia including the putamen; globus pallidus; claustrum; amygdala; and caudate nucleus. Dyskinesias (most notably involuntary movements and alterations of the rate of movement) represent the primary clinical manifestations of these disorders. Common etiologies include cerebrovascular disease; neurodegenerative diseases; and craniocerebral trauma. [NIH] Base: In chemistry, the nonacid part of a salt; a substance that combines with acids to form salts; a substance that dissociates to give hydroxide ions in aqueous solutions; a substance whose molecule or ion can combine with a proton (hydrogen ion); a substance capable of donating a pair of electrons (to an acid) for the formation of a coordinate covalent bond. [EU] Bile: An emulsifying agent produced in the liver and secreted into the duodenum. Its composition includes bile acids and salts, cholesterol, and electrolytes. It aids digestion of fats in the duodenum. [NIH] Bile Ducts: Tubes that carry bile from the liver to the gallbladder for storage and to the small intestine for use in digestion. [NIH] Bilirubin: A bile pigment that is a degradation product of heme. [NIH] Biochemical: Relating to biochemistry; characterized by, produced by, or involving chemical reactions in living organisms. [EU] Biological Markers: Measurable and quantifiable biological parameters (e.g., specific enzyme concentration, specific hormone concentration, specific gene phenotype distribution in a population, presence of biological substances) which serve as indices for health- and physiology-related assessments, such as disease risk, psychiatric disorders, environmental exposure and its effects, disease diagnosis, metabolic processes, substance abuse, pregnancy, cell line development, epidemiologic studies, etc. [NIH] Biological response modifier: BRM. A substance that stimulates the body's response to infection and disease. [NIH] Biological therapy: Treatment to stimulate or restore the ability of the immune system to fight infection and disease. Also used to lessen side effects that may be caused by some cancer treatments. Also known as immunotherapy, biotherapy, or biological response modifier (BRM) therapy. [NIH] Biopsy: Removal and pathologic examination of specimens in the form of small pieces of tissue from the living body. [NIH] Biotechnology: Body of knowledge related to the use of organisms, cells or cell-derived constituents for the purpose of developing products which are technically, scientifically and clinically useful. Alteration of biologic function at the molecular level (i.e., genetic engineering) is a central focus; laboratory methods used include transfection and cloning technologies, sequence and structure analysis algorithms, computer databases, and gene and protein structure function analysis and prediction. [NIH]

Dictionary 121

Bladder: The organ that stores urine. [NIH] Blood Glucose: Glucose in blood. [NIH] Blood pressure: The pressure of blood against the walls of a blood vessel or heart chamber. Unless there is reference to another location, such as the pulmonary artery or one of the heart chambers, it refers to the pressure in the systemic arteries, as measured, for example, in the forearm. [NIH] Blood vessel: A tube in the body through which blood circulates. Blood vessels include a network of arteries, arterioles, capillaries, venules, and veins. [NIH] Body Composition: The relative amounts of various components in the body, such as percent body fat. [NIH] Bone Conduction: Sound transmission through the bones of the skull to the inner ear. [NIH] Bone Density: The amount of mineral per square centimeter of bone. This is the definition used in clinical practice. Actual bone density would be expressed in grams per milliliter. It is most frequently measured by photon absorptiometry or x-ray computed tomography. [NIH] Bone Marrow: The soft tissue filling the cavities of bones. Bone marrow exists in two types, yellow and red. Yellow marrow is found in the large cavities of large bones and consists mostly of fat cells and a few primitive blood cells. Red marrow is a hematopoietic tissue and is the site of production of erythrocytes and granular leukocytes. Bone marrow is made up of a framework of connective tissue containing branching fibers with the frame being filled with marrow cells. [NIH] Bone scan: A technique to create images of bones on a computer screen or on film. A small amount of radioactive material is injected into a blood vessel and travels through the bloodstream; it collects in the bones and is detected by a scanner. [NIH] Bowel: The long tube-shaped organ in the abdomen that completes the process of digestion. There is both a small and a large bowel. Also called the intestine. [NIH] Bowel Movement: Body wastes passed through the rectum and anus. [NIH] Branch: Most commonly used for branches of nerves, but applied also to other structures. [NIH]

Buccal: Pertaining to or directed toward the cheek. In dental anatomy, used to refer to the buccal surface of a tooth. [EU] Capillary: Any one of the minute vessels that connect the arterioles and venules, forming a network in nearly all parts of the body. Their walls act as semipermeable membranes for the interchange of various substances, including fluids, between the blood and tissue fluid; called also vas capillare. [EU] Carbohydrate: An aldehyde or ketone derivative of a polyhydric alcohol, particularly of the pentahydric and hexahydric alcohols. They are so named because the hydrogen and oxygen are usually in the proportion to form water, (CH2O)n. The most important carbohydrates are the starches, sugars, celluloses, and gums. They are classified into mono-, di-, tri-, polyand heterosaccharides. [EU] Carcinogenic: Producing carcinoma. [EU] Carcinogens: Substances that increase the risk of neoplasms in humans or animals. Both genotoxic chemicals, which affect DNA directly, and nongenotoxic chemicals, which induce neoplasms by other mechanism, are included. [NIH] Cardiac: Having to do with the heart. [NIH] Cardiovascular: Having to do with the heart and blood vessels. [NIH] Cardiovascular Abnormalities: Congenital structural abnormalities of the cardiovascular

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system. [NIH] Cardiovascular disease: Any abnormal condition characterized by dysfunction of the heart and blood vessels. CVD includes atherosclerosis (especially coronary heart disease, which can lead to heart attacks), cerebrovascular disease (e.g., stroke), and hypertension (high blood pressure). [NIH] Cardiovascular System: The heart and the blood vessels by which blood is pumped and circulated through the body. [NIH] Case report: A detailed report of the diagnosis, treatment, and follow-up of an individual patient. Case reports also contain some demographic information about the patient (for example, age, gender, ethnic origin). [NIH] Caudal: Denoting a position more toward the cauda, or tail, than some specified point of reference; same as inferior, in human anatomy. [EU] Celiac Disease: A disease characterized by intestinal malabsorption and precipitated by gluten-containing foods. The intestinal mucosa shows loss of villous structure. [NIH] Cell: The individual unit that makes up all of the tissues of the body. All living things are made up of one or more cells. [NIH] Cell Division: The fission of a cell. [NIH] Cell Survival: The span of viability of a cell characterized by the capacity to perform certain functions such as metabolism, growth, reproduction, some form of responsiveness, and adaptability. [NIH] Cerebellar: Pertaining to the cerebellum. [EU] Cerebral: Of or pertaining of the cerebrum or the brain. [EU] Cerebrovascular: Pertaining to the blood vessels of the cerebrum, or brain. [EU] Cerebrum: The largest part of the brain. It is divided into two hemispheres, or halves, called the cerebral hemispheres. The cerebrum controls muscle functions of the body and also controls speech, emotions, reading, writing, and learning. [NIH] Check-up: A general physical examination. [NIH] Cholesterol: The principal sterol of all higher animals, distributed in body tissues, especially the brain and spinal cord, and in animal fats and oils. [NIH] Chromatin: The material of chromosomes. It is a complex of DNA, histones, and nonhistone proteins (chromosomal proteins, non-histone) found within the nucleus of a cell. [NIH] Chromium: A trace element that plays a role in glucose metabolism. It has the atomic symbol Cr, atomic number 24, and atomic weight 52. According to the Fourth Annual Report on Carcinogens (NTP85-002,1985), chromium and some of its compounds have been listed as known carcinogens. [NIH] Chromosomal: Pertaining to chromosomes. [EU] Chromosome: Part of a cell that contains genetic information. Except for sperm and eggs, all human cells contain 46 chromosomes. [NIH] Chronic: A disease or condition that persists or progresses over a long period of time. [NIH] Chronic renal: Slow and progressive loss of kidney function over several years, often resulting in end-stage renal disease. People with end-stage renal disease need dialysis or transplantation to replace the work of the kidneys. [NIH] Clinical trial: A research study that tests how well new medical treatments or other interventions work in people. Each study is designed to test new methods of screening, prevention, diagnosis, or treatment of a disease. [NIH]

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Cloning: The production of a number of genetically identical individuals; in genetic engineering, a process for the efficient replication of a great number of identical DNA molecules. [NIH] Cochlea: The part of the internal ear that is concerned with hearing. It forms the anterior part of the labyrinth, is conical, and is placed almost horizontally anterior to the vestibule. [NIH]

Cochlear: Of or pertaining to the cochlea. [EU] Cofactor: A substance, microorganism or environmental factor that activates or enhances the action of another entity such as a disease-causing agent. [NIH] Cognition: Intellectual or mental process whereby an organism becomes aware of or obtains knowledge. [NIH] Colitis: Inflammation of the colon. [NIH] Collagen: A polypeptide substance comprising about one third of the total protein in mammalian organisms. It is the main constituent of skin, connective tissue, and the organic substance of bones and teeth. Different forms of collagen are produced in the body but all consist of three alpha-polypeptide chains arranged in a triple helix. Collagen is differentiated from other fibrous proteins, such as elastin, by the content of proline, hydroxyproline, and hydroxylysine; by the absence of tryptophan; and particularly by the high content of polar groups which are responsible for its swelling properties. [NIH] Colloidal: Of the nature of a colloid. [EU] Combination Therapy: Association of 3 drugs to treat AIDS (AZT + DDC or DDI + protease inhibitor). [NIH] Communication Disorders: Disorders of verbal and nonverbal communication caused by receptive or expressive language disorders, cognitive dysfunction (e.g., mental retardation), psychiatric conditions, and hearing disorders. [NIH] Complement: A term originally used to refer to the heat-labile factor in serum that causes immune cytolysis, the lysis of antibody-coated cells, and now referring to the entire functionally related system comprising at least 20 distinct serum proteins that is the effector not only of immune cytolysis but also of other biologic functions. Complement activation occurs by two different sequences, the classic and alternative pathways. The proteins of the classic pathway are termed 'components of complement' and are designated by the symbols C1 through C9. C1 is a calcium-dependent complex of three distinct proteins C1q, C1r and C1s. The proteins of the alternative pathway (collectively referred to as the properdin system) and complement regulatory proteins are known by semisystematic or trivial names. Fragments resulting from proteolytic cleavage of complement proteins are designated with lower-case letter suffixes, e.g., C3a. Inactivated fragments may be designated with the suffix 'i', e.g. C3bi. Activated components or complexes with biological activity are designated by a bar over the symbol e.g. C1 or C4b,2a. The classic pathway is activated by the binding of C1 to classic pathway activators, primarily antigen-antibody complexes containing IgM, IgG1, IgG3; C1q binds to a single IgM molecule or two adjacent IgG molecules. The alternative pathway can be activated by IgA immune complexes and also by nonimmunologic materials including bacterial endotoxins, microbial polysaccharides, and cell walls. Activation of the classic pathway triggers an enzymatic cascade involving C1, C4, C2 and C3; activation of the alternative pathway triggers a cascade involving C3 and factors B, D and P. Both result in the cleavage of C5 and the formation of the membrane attack complex. Complement activation also results in the formation of many biologically active complement fragments that act as anaphylatoxins, opsonins, or chemotactic factors. [EU] Complementary and alternative medicine: CAM. Forms of treatment that are used in

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addition to (complementary) or instead of (alternative) standard treatments. These practices are not considered standard medical approaches. CAM includes dietary supplements, megadose vitamins, herbal preparations, special teas, massage therapy, magnet therapy, spiritual healing, and meditation. [NIH] Complementary medicine: Practices not generally recognized by the medical community as standard or conventional medical approaches and used to enhance or complement the standard treatments. Complementary medicine includes the taking of dietary supplements, megadose vitamins, and herbal preparations; the drinking of special teas; and practices such as massage therapy, magnet therapy, spiritual healing, and meditation. [NIH] Computational Biology: A field of biology concerned with the development of techniques for the collection and manipulation of biological data, and the use of such data to make biological discoveries or predictions. This field encompasses all computational methods and theories applicable to molecular biology and areas of computer-based techniques for solving biological problems including manipulation of models and datasets. [NIH] Computed tomography: CT scan. A series of detailed pictures of areas inside the body, taken from different angles; the pictures are created by a computer linked to an x-ray machine. Also called computerized tomography and computerized axial tomography (CAT) scan. [NIH] Computerized axial tomography: A series of detailed pictures of areas inside the body, taken from different angles; the pictures are created by a computer linked to an x-ray machine. Also called CAT scan, computed tomography (CT scan), or computerized tomography. [NIH] Computerized tomography: A series of detailed pictures of areas inside the body, taken from different angles; the pictures are created by a computer linked to an x-ray machine. Also called computerized axial tomography (CAT) scan and computed tomography (CT scan). [NIH] Conception: The onset of pregnancy, marked by implantation of the blastocyst; the formation of a viable zygote. [EU] Conduction: The transfer of sound waves, heat, nervous impulses, or electricity. [EU] Connective Tissue: Tissue that supports and binds other tissues. It consists of connective tissue cells embedded in a large amount of extracellular matrix. [NIH] Connective Tissue: Tissue that supports and binds other tissues. It consists of connective tissue cells embedded in a large amount of extracellular matrix. [NIH] Constitutional: 1. Affecting the whole constitution of the body; not local. 2. Pertaining to the constitution. [EU] Constriction: The act of constricting. [NIH] Consultation: A deliberation between two or more physicians concerning the diagnosis and the proper method of treatment in a case. [NIH] Contraindications: Any factor or sign that it is unwise to pursue a certain kind of action or treatment, e. g. giving a general anesthetic to a person with pneumonia. [NIH] Control group: In a clinical trial, the group that does not receive the new treatment being studied. This group is compared to the group that receives the new treatment, to see if the new treatment works. [NIH] Controlled study: An experiment or clinical trial that includes a comparison (control) group. [NIH]

Coronary: Encircling in the manner of a crown; a term applied to vessels; nerves, ligaments, etc. The term usually denotes the arteries that supply the heart muscle and, by extension, a

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pathologic involvement of them. [EU] Coronary heart disease: A type of heart disease caused by narrowing of the coronary arteries that feed the heart, which needs a constant supply of oxygen and nutrients carried by the blood in the coronary arteries. When the coronary arteries become narrowed or clogged by fat and cholesterol deposits and cannot supply enough blood to the heart, CHD results. [NIH] Coronary Thrombosis: Presence of a thrombus in a coronary artery, often causing a myocardial infarction. [NIH] Corpus: The body of the uterus. [NIH] Corpus Luteum: The yellow glandular mass formed in the ovary by an ovarian follicle that has ruptured and discharged its ovum. [NIH] Cortex: The outer layer of an organ or other body structure, as distinguished from the internal substance. [EU] Cortical: Pertaining to or of the nature of a cortex or bark. [EU] Cortisol: A steroid hormone secreted by the adrenal cortex as part of the body's response to stress. [NIH] Cranial: Pertaining to the cranium, or to the anterior (in animals) or superior (in humans) end of the body. [EU] Criterion: A standard by which something may be judged. [EU] Crossing-over: The exchange of corresponding segments between chromatids of homologous chromosomes during meiosia, forming a chiasma. [NIH] Curative: Tending to overcome disease and promote recovery. [EU] Cutaneous: Having to do with the skin. [NIH] Cytogenetics: A branch of genetics which deals with the cytological and molecular behavior of genes and chromosomes during cell division. [NIH] Databases, Bibliographic: Extensive collections, reputedly complete, of references and citations to books, articles, publications, etc., generally on a single subject or specialized subject area. Databases can operate through automated files, libraries, or computer disks. The concept should be differentiated from factual databases which is used for collections of data and facts apart from bibliographic references to them. [NIH] Degenerative: Undergoing degeneration : tending to degenerate; having the character of or involving degeneration; causing or tending to cause degeneration. [EU] Denaturation: Rupture of the hydrogen bonds by heating a DNA solution and then cooling it rapidly causes the two complementary strands to separate. [NIH] Density: The logarithm to the base 10 of the opacity of an exposed and processed film. [NIH] Dentition: The teeth in the dental arch; ordinarily used to designate the natural teeth in position in their alveoli. [EU] Diabetes Mellitus: A heterogeneous group of disorders that share glucose intolerance in common. [NIH] Diagnostic procedure: A method used to identify a disease. [NIH] Diaphragm: The musculofibrous partition that separates the thoracic cavity from the abdominal cavity. Contraction of the diaphragm increases the volume of the thoracic cavity aiding inspiration. [NIH] Diastolic: Of or pertaining to the diastole. [EU]

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Diencephalon: The paired caudal parts of the prosencephalon from which the thalamus, hypothalamus, epithalamus, and subthalamus are derived. [NIH] Digestion: The process of breakdown of food for metabolism and use by the body. [NIH] Digestive system: The organs that take in food and turn it into products that the body can use to stay healthy. Waste products the body cannot use leave the body through bowel movements. The digestive system includes the salivary glands, mouth, esophagus, stomach, liver, pancreas, gallbladder, small and large intestines, and rectum. [NIH] Dilatation: The act of dilating. [NIH] Dilation: A process by which the pupil is temporarily enlarged with special eye drops (mydriatic); allows the eye care specialist to better view the inside of the eye. [NIH] Diploid: Having two sets of chromosomes. [NIH] Direct: 1. Straight; in a straight line. 2. Performed immediately and without the intervention of subsidiary means. [EU] Dissection: Cutting up of an organism for study. [NIH] Dorsal: 1. Pertaining to the back or to any dorsum. 2. Denoting a position more toward the back surface than some other object of reference; same as posterior in human anatomy; superior in the anatomy of quadrupeds. [EU] Drive: A state of internal activity of an organism that is a necessary condition before a given stimulus will elicit a class of responses; e.g., a certain level of hunger (drive) must be present before food will elicit an eating response. [NIH] Drug Interactions: The action of a drug that may affect the activity, metabolism, or toxicity of another drug. [NIH] Drug Tolerance: Progressive diminution of the susceptibility of a human or animal to the effects of a drug, resulting from its continued administration. It should be differentiated from drug resistance wherein an organism, disease, or tissue fails to respond to the intended effectiveness of a chemical or drug. It should also be differentiated from maximum tolerated dose and no-observed-adverse-effect level. [NIH] Dysgenesis: Defective development. [EU] Dysgerminoma: A malignant ovarian neoplasm, thought to be derived from primordial germ cells of the sexually undifferentiated embryonic gonad. It is the counterpart of the classical seminoma of the testis, to which it is both grossly and histologically identical. Dysgerminomas comprise 16% of all germ cell tumors but are rare before the age of 10, although nearly 50% occur before the age of 20. They are generally considered of low-grade malignancy but may spread if the tumor extends through its capsule and involves lymph nodes or blood vessels. (Dorland, 27th ed; DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1646 [NIH] Dyspareunia: Painful sexual intercourse. [NIH] Dysplasia: Cells that look abnormal under a microscope but are not cancer. [NIH] Dystrophy: Any disorder arising from defective or faulty nutrition, especially the muscular dystrophies. [EU] Elastin: The protein that gives flexibility to tissues. [NIH] Electrocardiogram: Measurement of electrical activity during heartbeats. [NIH] Electrons: Stable elementary particles having the smallest known negative charge, present in all elements; also called negatrons. Positively charged electrons are called positrons. The numbers, energies and arrangement of electrons around atomic nuclei determine the chemical identities of elements. Beams of electrons are called cathode rays or beta rays, the

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latter being a high-energy biproduct of nuclear decay. [NIH] Embryo: The prenatal stage of mammalian development characterized by rapid morphological changes and the differentiation of basic structures. [NIH] Embryo Transfer: Removal of a mammalian embryo from one environment and replacement in the same or a new environment. The embryo is usually in the pre-nidation phase, i.e., a blastocyst. The process includes embryo or blastocyst transplantation or transfer after in vitro fertilization and transfer of the inner cell mass of the blastocyst. It is not used for transfer of differentiated embryonic tissue, e.g., germ layer cells. [NIH] Encephalocele: Cerebral tissue herniation through a congenital or acquired defect in the skull. The majority of congenital encephaloceles occur in the occipital or frontal regions. Clinical features include a protuberant mass that may be pulsatile. The quantity and location of protruding neural tissue determines the type and degree of neurologic deficit. Visual defects, psychomotor developmental delay, and persistent motor deficits frequently occur. [NIH]

Endemic: Present or usually prevalent in a population or geographical area at all times; said of a disease or agent. Called also endemial. [EU] End-stage renal: Total chronic kidney failure. When the kidneys fail, the body retains fluid and harmful wastes build up. A person with ESRD needs treatment to replace the work of the failed kidneys. [NIH] Energy balance: Energy is the capacity of a body or a physical system for doing work. Energy balance is the state in which the total energy intake equals total energy needs. [NIH] Environmental Exposure: The exposure to potentially harmful chemical, physical, or biological agents in the environment or to environmental factors that may include ionizing radiation, pathogenic organisms, or toxic chemicals. [NIH] Environmental Health: The science of controlling or modifying those conditions, influences, or forces surrounding man which relate to promoting, establishing, and maintaining health. [NIH]

Enzymatic: Phase where enzyme cuts the precursor protein. [NIH] Enzyme: A protein that speeds up chemical reactions in the body. [NIH] Epidemiologic Studies: Studies designed to examine associations, commonly, hypothesized causal relations. They are usually concerned with identifying or measuring the effects of risk factors or exposures. The common types of analytic study are case-control studies, cohort studies, and cross-sectional studies. [NIH] Epithelial: Refers to the cells that line the internal and external surfaces of the body. [NIH] Epithelial Cells: Cells that line the inner and outer surfaces of the body. [NIH] Erythrocytes: Red blood cells. Mature erythrocytes are non-nucleated, biconcave disks containing hemoglobin whose function is to transport oxygen. [NIH] Esophagus: The muscular tube through which food passes from the throat to the stomach. [NIH]

Essential Tremor: A rhythmic, involuntary, purposeless, oscillating movement resulting from the alternate contraction and relaxation of opposing groups of muscles. [NIH] Estradiol: The most potent mammalian estrogenic hormone. It is produced in the ovary, placenta, testis, and possibly the adrenal cortex. [NIH] Estrogen: One of the two female sex hormones. [NIH] Estrogen Replacement Therapy: The use of hormonal agents with estrogen-like activity in postmenopausal or other estrogen-deficient women to alleviate effects of hormone

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deficiency, such as vasomotor symptoms, dyspareunia, and progressive development of osteoporosis. This may also include the use of progestational agents in combination therapy. [NIH]

Eukaryotic Cells: Cells of the higher organisms, containing a true nucleus bounded by a nuclear membrane. [NIH] Exogenous: Developed or originating outside the organism, as exogenous disease. [EU] Facial: Of or pertaining to the face. [EU] Family Planning: Programs or services designed to assist the family in controlling reproduction by either improving or diminishing fertility. [NIH] Fat: Total lipids including phospholipids. [NIH] Fathers: Male parents, human or animal. [NIH] Fatty acids: A major component of fats that are used by the body for energy and tissue development. [NIH] Femoral: Pertaining to the femur, or to the thigh. [EU] Femur: The longest and largest bone of the skeleton, it is situated between the hip and the knee. [NIH] Fertilization in Vitro: Fertilization of an egg outside the body when the egg is normally fertilized in the body. [NIH] Fetal Alcohol Syndrome: A disorder occurring in children born to alcoholic women who continue to drink heavily during pregnancy. Common abnormalities are growth deficiency (prenatal and postnatal), altered morphogenesis, mental deficiency, and characteristic facies - small eyes and flattened nasal bridge. Fine motor dysfunction and tremulousness are observed in the newborn. [NIH] Fetal Development: Morphologic and physiologic growth and development of the mammalian embryo or fetus. [NIH] Fetoprotein: Transabdominal aspiration of fluid from the amniotic sac with a view to detecting increases of alpha-fetoprotein in maternal blood during pregnancy, as this is an important indicator of open neural tube defects in the fetus. [NIH] Fetus: The developing offspring from 7 to 8 weeks after conception until birth. [NIH] Fibrosis: Any pathological condition where fibrous connective tissue invades any organ, usually as a consequence of inflammation or other injury. [NIH] Fissure: Any cleft or groove, normal or otherwise; especially a deep fold in the cerebral cortex which involves the entire thickness of the brain wall. [EU] Fluorescence: The property of emitting radiation while being irradiated. The radiation emitted is usually of longer wavelength than that incident or absorbed, e.g., a substance can be irradiated with invisible radiation and emit visible light. X-ray fluorescence is used in diagnosis. [NIH] Foetoplacental: Pertaining to the fetus and placenta. [EU] Folate: A B-complex vitamin that is being studied as a cancer prevention agent. Also called folic acid. [NIH] Folic Acid: N-(4-(((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzoyl)-Lglutamic acid. A member of the vitamin B family that stimulates the hematopoietic system. It is present in the liver and kidney and is found in mushrooms, spinach, yeast, green leaves, and grasses. Folic acid is used in the treatment and prevention of folate deficiencies and megaloblastic anemia. [NIH]

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Forearm: The part between the elbow and the wrist. [NIH] Fossa: A cavity, depression, or pit. [NIH] Frontal Lobe: The anterior part of the cerebral hemisphere. [NIH] Functional magnetic resonance imaging: A noninvasive tool used to observe functioning in the brain or other organs by detecting changes in chemical composition, blood flow, or both. [NIH]

Gallbladder: The pear-shaped organ that sits below the liver. Bile is concentrated and stored in the gallbladder. [NIH] Gastrin: A hormone released after eating. Gastrin causes the stomach to produce more acid. [NIH]

Gelatin: A product formed from skin, white connective tissue, or bone collagen. It is used as a protein food adjuvant, plasma substitute, hemostatic, suspending agent in pharmaceutical preparations, and in the manufacturing of capsules and suppositories. [NIH] Gene: The functional and physical unit of heredity passed from parent to offspring. Genes are pieces of DNA, and most genes contain the information for making a specific protein. [NIH]

Gene Dosage: The number of copies of a given gene present in a cell or nucleus. An increase in gene dosage can result in the formation of higher levels of gene product, provided that the gene is not subject to autogenous regulation. [NIH] Gene Expression: The phenotypic manifestation of a gene or genes by the processes of gene action. [NIH] Genetic Counseling: Advising families of the risks involved pertaining to birth defects, in order that they may make an informed decision on current or future pregnancies. [NIH] Genetic testing: Analyzing DNA to look for a genetic alteration that may indicate an increased risk for developing a specific disease or disorder. [NIH] Genetics: The biological science that deals with the phenomena and mechanisms of heredity. [NIH] Genotype: The genetic constitution of the individual; the characterization of the genes. [NIH] Germ cell tumors: Tumors that begin in the cells that give rise to sperm or eggs. They can occur virtually anywhere in the body and can be either benign or malignant. [NIH] Germ Cells: The reproductive cells in multicellular organisms. [NIH] Gestation: The period of development of the young in viviparous animals, from the time of fertilization of the ovum until birth. [EU] Gland: An organ that produces and releases one or more substances for use in the body. Some glands produce fluids that affect tissues or organs. Others produce hormones or participate in blood production. [NIH] Glomeruli: Plural of glomerulus. [NIH] Glomerulosclerosis: Scarring of the glomeruli. It may result from diabetes mellitus (diabetic glomerulosclerosis) or from deposits in parts of the glomerulus (focal segmental glomerulosclerosis). The most common signs of glomerulosclerosis are proteinuria and kidney failure. [NIH] Glomerulus: A tiny set of looping blood vessels in the nephron where blood is filtered in the kidney. [NIH] Glucose: D-Glucose. A primary source of energy for living organisms. It is naturally occurring and is found in fruits and other parts of plants in its free state. It is used

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therapeutically in fluid and nutrient replacement. [NIH] Glucose Intolerance: A pathological state in which the fasting plasma glucose level is less than 140 mg per deciliter and the 30-, 60-, or 90-minute plasma glucose concentration following a glucose tolerance test exceeds 200 mg per deciliter. This condition is seen frequently in diabetes mellitus but also occurs with other diseases. [NIH] Glucose tolerance: The power of the normal liver to absorb and store large quantities of glucose and the effectiveness of intestinal absorption of glucose. The glucose tolerance test is a metabolic test of carbohydrate tolerance that measures active insulin, a hepatic function based on the ability of the liver to absorb glucose. The test consists of ingesting 100 grams of glucose into a fasting stomach; blood sugar should return to normal in 2 to 21 hours after ingestion. [NIH] Glucose Tolerance Test: Determination of whole blood or plasma sugar in a fasting state before and at prescribed intervals (usually 1/2 hr, 1 hr, 3 hr, 4 hr) after taking a specified amount (usually 100 gm orally) of glucose. [NIH] Glutamic Acid: A non-essential amino acid naturally occurring in the L-form. Glutamic acid (glutamate) is the most common excitatory neurotransmitter in the central nervous system. [NIH]

Gluten: The protein of wheat and other grains which gives to the dough its tough elastic character. [EU] Gonad: A sex organ, such as an ovary or a testicle, which produces the gametes in most multicellular animals. [NIH] Gonadal: Pertaining to a gonad. [EU] Governing Board: The group in which legal authority is vested for the control of healthrelated institutions and organizations. [NIH] Grade: The grade of a tumor depends on how abnormal the cancer cells look under a microscope and how quickly the tumor is likely to grow and spread. Grading systems are different for each type of cancer. [NIH] Grasses: A large family, Gramineae, of narrow-leaved herbaceous monocots. Many grasses produce highly allergenic pollens and are hosts to cattle parasites and toxic fungi. [NIH] Gravis: Eruption of watery blisters on the skin among those handling animals and animal products. [NIH] Growth: The progressive development of a living being or part of an organism from its earliest stage to maturity. [NIH] Growth factors: Substances made by the body that function to regulate cell division and cell survival. Some growth factors are also produced in the laboratory and used in biological therapy. [NIH] Hearing Disorders: Conditions that impair the transmission or perception of auditory impulses and information from the level of the ear to the temporal cortices, including the sensorineural pathways. [NIH] Heart attack: A seizure of weak or abnormal functioning of the heart. [NIH] Hemochromatosis: A disease that occurs when the body absorbs too much iron. The body stores the excess iron in the liver, pancreas, and other organs. May cause cirrhosis of the liver. Also called iron overload disease. [NIH] Hemoglobin: One of the fractions of glycosylated hemoglobin A1c. Glycosylated hemoglobin is formed when linkages of glucose and related monosaccharides bind to hemoglobin A and its concentration represents the average blood glucose level over the

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previous several weeks. HbA1c levels are used as a measure of long-term control of plasma glucose (normal, 4 to 6 percent). In controlled diabetes mellitus, the concentration of glycosylated hemoglobin A is within the normal range, but in uncontrolled cases the level may be 3 to 4 times the normal conentration. Generally, complications are substantially lower among patients with Hb levels of 7 percent or less than in patients with HbA1c levels of 9 percent or more. [NIH] Hemoglobinuria: The presence of free hemoglobin in the urine. [NIH] Hemolytic: A disease that affects the blood and blood vessels. It destroys red blood cells, cells that cause the blood to clot, and the lining of blood vessels. HUS is often caused by the Escherichia coli bacterium in contaminated food. People with HUS may develop acute renal failure. [NIH] Hemorrhage: Bleeding or escape of blood from a vessel. [NIH] Hepatic: Refers to the liver. [NIH] Hepatitis: Inflammation of the liver and liver disease involving degenerative or necrotic alterations of hepatocytes. [NIH] Hepatitis D: Hepatitis caused by the hepatitis delta virus in association with hepatitis B. It is endemic in some European countries and is seen in drug users, hemophiliacs, and polytransfused persons. [NIH] Hepatitis Delta Virus: A defective virus, containing particles of RNA nucleoprotein in virion-like form, present in patients with acute hepatitis B and chronic hepatitis. Officially this is classified as a subviral satellite RNA. [NIH] Hepatocytes: The main structural component of the liver. They are specialized epithelial cells that are organized into interconnected plates called lobules. [NIH] Hereditary: Of, relating to, or denoting factors that can be transmitted genetically from one generation to another. [NIH] Heredity: 1. The genetic transmission of a particular quality or trait from parent to offspring. 2. The genetic constitution of an individual. [EU] Heterogeneity: The property of one or more samples or populations which implies that they are not identical in respect of some or all of their parameters, e. g. heterogeneity of variance. [NIH]

Histology: The study of tissues and cells under a microscope. [NIH] Homeobox: Distinctive sequence of DNA bases. [NIH] Homogeneous: Consisting of or composed of similar elements or ingredients; of a uniform quality throughout. [EU] Homologous: Corresponding in structure, position, origin, etc., as (a) the feathers of a bird and the scales of a fish, (b) antigen and its specific antibody, (c) allelic chromosomes. [EU] Hormonal: Pertaining to or of the nature of a hormone. [EU] Hormone: A substance in the body that regulates certain organs. Hormones such as gastrin help in breaking down food. Some hormones come from cells in the stomach and small intestine. [NIH] Hormone Replacement Therapy: Therapeutic use of hormones to alleviate the effects of hormone deficiency. [NIH] Hormone therapy: Treatment of cancer by removing, blocking, or adding hormones. Also called endocrine therapy. [NIH] Human growth hormone: A protein hormone, secreted by the anterior lobe of the pituitary,

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which promotes growth of the whole body by stimulating protein synthesis. The human gene has already been cloned and successfully expressed in bacteria. [NIH] Hydrogen: The first chemical element in the periodic table. It has the atomic symbol H, atomic number 1, and atomic weight 1. It exists, under normal conditions, as a colorless, odorless, tasteless, diatomic gas. Hydrogen ions are protons. Besides the common H1 isotope, hydrogen exists as the stable isotope deuterium and the unstable, radioactive isotope tritium. [NIH] Hydroxylysine: A hydroxylated derivative of the amino acid lysine that is present in certain collagens. [NIH] Hydroxyproline: A hydroxylated form of the imino acid proline. A deficiency in ascorbic acid can result in impaired hydroxyproline formation. [NIH] Hyperhidrosis: Excessive sweating. In the localized type, the most frequent sites are the palms, soles, axillae, inguinal folds, and the perineal area. Its chief cause is thought to be emotional. Generalized hyperhidrosis may be induced by a hot, humid environment, by fever, or by vigorous exercise. [NIH] Hypertension: Persistently high arterial blood pressure. Currently accepted threshold levels are 140 mm Hg systolic and 90 mm Hg diastolic pressure. [NIH] Hypogonadism: Condition resulting from or characterized by abnormally decreased functional activity of the gonads, with retardation of growth and sexual development. [NIH] Hypoplasia: Incomplete development or underdevelopment of an organ or tissue. [EU] Hypothyroidism: Deficiency of thyroid activity. In adults, it is most common in women and is characterized by decrease in basal metabolic rate, tiredness and lethargy, sensitivity to cold, and menstrual disturbances. If untreated, it progresses to full-blown myxoedema. In infants, severe hypothyroidism leads to cretinism. In juveniles, the manifestations are intermediate, with less severe mental and developmental retardation and only mild symptoms of the adult form. When due to pituitary deficiency of thyrotropin secretion it is called secondary hypothyroidism. [EU] Id: The part of the personality structure which harbors the unconscious instinctive desires and strivings of the individual. [NIH] Idiopathic: Describes a disease of unknown cause. [NIH] Immune response: The activity of the immune system against foreign substances (antigens). [NIH]

Immunodeficiency: The decreased ability of the body to fight infection and disease. [NIH] Impairment: In the context of health experience, an impairment is any loss or abnormality of psychological, physiological, or anatomical structure or function. [NIH] Implantation: The insertion or grafting into the body of biological, living, inert, or radioactive material. [EU] In situ: In the natural or normal place; confined to the site of origin without invasion of neighbouring tissues. [EU] In Situ Hybridization: A technique that localizes specific nucleic acid sequences within intact chromosomes, eukaryotic cells, or bacterial cells through the use of specific nucleic acid-labeled probes. [NIH] In vitro: In the laboratory (outside the body). The opposite of in vivo (in the body). [NIH] In vivo: In the body. The opposite of in vitro (outside the body or in the laboratory). [NIH] Indicative: That indicates; that points out more or less exactly; that reveals fairly clearly. [EU]

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Induction: The act or process of inducing or causing to occur, especially the production of a specific morphogenetic effect in the developing embryo through the influence of evocators or organizers, or the production of anaesthesia or unconsciousness by use of appropriate agents. [EU] Infarction: A pathological process consisting of a sudden insufficient blood supply to an area, which results in necrosis of that area. It is usually caused by a thrombus, an embolus, or a vascular torsion. [NIH] Infection: 1. Invasion and multiplication of microorganisms in body tissues, which may be clinically unapparent or result in local cellular injury due to competitive metabolism, toxins, intracellular replication, or antigen-antibody response. The infection may remain localized, subclinical, and temporary if the body's defensive mechanisms are effective. A local infection may persist and spread by extension to become an acute, subacute, or chronic clinical infection or disease state. A local infection may also become systemic when the microorganisms gain access to the lymphatic or vascular system. 2. An infectious disease. [EU]

Infertility: The diminished or absent ability to conceive or produce an offspring while sterility is the complete inability to conceive or produce an offspring. [NIH] Inflammation: A pathological process characterized by injury or destruction of tissues caused by a variety of cytologic and chemical reactions. It is usually manifested by typical signs of pain, heat, redness, swelling, and loss of function. [NIH] Inflammatory bowel disease: A general term that refers to the inflammation of the colon and rectum. Inflammatory bowel disease includes ulcerative colitis and Crohn's disease. [NIH]

Ingestion: Taking into the body by mouth [NIH] Inguinal: Pertaining to the inguen, or groin. [EU] Inner ear: The labyrinth, comprising the vestibule, cochlea, and semicircular canals. [NIH] Insight: The capacity to understand one's own motives, to be aware of one's own psychodynamics, to appreciate the meaning of symbolic behavior. [NIH] Insulin: A protein hormone secreted by beta cells of the pancreas. Insulin plays a major role in the regulation of glucose metabolism, generally promoting the cellular utilization of glucose. It is also an important regulator of protein and lipid metabolism. Insulin is used as a drug to control insulin-dependent diabetes mellitus. [NIH] Insulin-dependent diabetes mellitus: A disease characterized by high levels of blood glucose resulting from defects in insulin secretion, insulin action, or both. Autoimmune, genetic, and environmental factors are involved in the development of type I diabetes. [NIH] Interferon: A biological response modifier (a substance that can improve the body's natural response to disease). Interferons interfere with the division of cancer cells and can slow tumor growth. There are several types of interferons, including interferon-alpha, -beta, and gamma. These substances are normally produced by the body. They are also made in the laboratory for use in treating cancer and other diseases. [NIH] Interferon-alpha: One of the type I interferons produced by peripheral blood leukocytes or lymphoblastoid cells when exposed to live or inactivated virus, double-stranded RNA, or bacterial products. It is the major interferon produced by virus-induced leukocyte cultures and, in addition to its pronounced antiviral activity, it causes activation of NK cells. [NIH] Intestinal: Having to do with the intestines. [NIH] Intracellular: Inside a cell. [NIH] Intravenous: IV. Into a vein. [NIH]

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Invasive: 1. Having the quality of invasiveness. 2. Involving puncture or incision of the skin or insertion of an instrument or foreign material into the body; said of diagnostic techniques. [EU]

Involuntary: Reaction occurring without intention or volition. [NIH] Ions: An atom or group of atoms that have a positive or negative electric charge due to a gain (negative charge) or loss (positive charge) of one or more electrons. Atoms with a positive charge are known as cations; those with a negative charge are anions. [NIH] Ischemia: Deficiency of blood in a part, due to functional constriction or actual obstruction of a blood vessel. [EU] Joint: The point of contact between elements of an animal skeleton with the parts that surround and support it. [NIH] Karyotype: The characteristic chromosome complement of an individual, race, or species as defined by their number, size, shape, etc. [NIH] Kb: A measure of the length of DNA fragments, 1 Kb = 1000 base pairs. The largest DNA fragments are up to 50 kilobases long. [NIH] Kidney Disease: Any one of several chronic conditions that are caused by damage to the cells of the kidney. People who have had diabetes for a long time may have kidney damage. Also called nephropathy. [NIH] Lactation: The period of the secretion of milk. [EU] Language Development: The gradual expansion in complexity and meaning of symbols and sounds as perceived and interpreted by the individual through a maturational and learning process. Stages in development include babbling, cooing, word imitation with cognition, and use of short sentences. [NIH] Language Disorders: Conditions characterized by deficiencies of comprehension or expression of written and spoken forms of language. These include acquired and developmental disorders. [NIH] Large Intestine: The part of the intestine that goes from the cecum to the rectum. The large intestine absorbs water from stool and changes it from a liquid to a solid form. The large intestine is 5 feet long and includes the appendix, cecum, colon, and rectum. Also called colon. [NIH] Leptin: A 16-kD peptide hormone secreted from white adipocytes and implicated in the regulation of food intake and energy balance. Leptin provides the key afferent signal from fat cells in the feedback system that controls body fat stores. [NIH] Lesion: An area of abnormal tissue change. [NIH] Lethal: Deadly, fatal. [EU] Lethargy: Abnormal drowsiness or stupor; a condition of indifference. [EU] Leukemia: Cancer of blood-forming tissue. [NIH] Leukocytes: White blood cells. These include granular leukocytes (basophils, eosinophils, and neutrophils) as well as non-granular leukocytes (lymphocytes and monocytes). [NIH] Libido: The psychic drive or energy associated with sexual instinct in the broad sense (pleasure and love-object seeking). It may also connote the psychic energy associated with instincts in general that motivate behavior. [NIH] Library Services: Services offered to the library user. They include reference and circulation. [NIH]

Ligament: A band of fibrous tissue that connects bones or cartilages, serving to support and strengthen joints. [EU]

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Limbic: Pertaining to a limbus, or margin; forming a border around. [EU] Limbic System: A set of forebrain structures common to all mammals that is defined functionally and anatomically. It is implicated in the higher integration of visceral, olfactory, and somatic information as well as homeostatic responses including fundamental survival behaviors (feeding, mating, emotion). For most authors, it includes the amygdala, epithalamus, gyrus cinguli, hippocampal formation (see hippocampus), hypothalamus, parahippocampal gyrus, septal nuclei, anterior nuclear group of thalamus, and portions of the basal ganglia. (Parent, Carpenter's Human Neuroanatomy, 9th ed, p744; NeuroNames, http://rprcsgi.rprc.washington.edu/neuronames/index.html (September 2, 1998)). [NIH] Linkages: The tendency of two or more genes in the same chromosome to remain together from one generation to the next more frequently than expected according to the law of independent assortment. [NIH] Lip: Either of the two fleshy, full-blooded margins of the mouth. [NIH] Lipid: Fat. [NIH] Liver: A large, glandular organ located in the upper abdomen. The liver cleanses the blood and aids in digestion by secreting bile. [NIH] Liver cancer: A disease in which malignant (cancer) cells are found in the tissues of the liver. [NIH]

Liver scan: An image of the liver created on a computer screen or on film. A radioactive substance is injected into a blood vessel and travels through the bloodstream. It collects in the liver, especially in abnormal areas, and can be detected by the scanner. [NIH] Lobe: A portion of an organ such as the liver, lung, breast, or brain. [NIH] Localization: The process of determining or marking the location or site of a lesion or disease. May also refer to the process of keeping a lesion or disease in a specific location or site. [NIH] Localized: Cancer which has not metastasized yet. [NIH] Longitudinal study: Also referred to as a "cohort study" or "prospective study"; the analytic method of epidemiologic study in which subsets of a defined population can be identified who are, have been, or in the future may be exposed or not exposed, or exposed in different degrees, to a factor or factors hypothesized to influence the probability of occurrence of a given disease or other outcome. The main feature of this type of study is to observe large numbers of subjects over an extended time, with comparisons of incidence rates in groups that differ in exposure levels. [NIH] Lumen: The cavity or channel within a tube or tubular organ. [EU] Lupus: A form of cutaneous tuberculosis. It is seen predominantly in women and typically involves the nasal, buccal, and conjunctival mucosa. [NIH] Lymph: The almost colorless fluid that travels through the lymphatic system and carries cells that help fight infection and disease. [NIH] Lymph node: A rounded mass of lymphatic tissue that is surrounded by a capsule of connective tissue. Also known as a lymph gland. Lymph nodes are spread out along lymphatic vessels and contain many lymphocytes, which filter the lymphatic fluid (lymph). [NIH]

Lymphatic: The tissues and organs, including the bone marrow, spleen, thymus, and lymph nodes, that produce and store cells that fight infection and disease. [NIH] Lymphedema: Edema due to obstruction of lymph vessels or disorders of the lymph nodes. [NIH]

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Lymphocyte: A white blood cell. Lymphocytes have a number of roles in the immune system, including the production of antibodies and other substances that fight infection and diseases. [NIH] Lymphoid: Referring to lymphocytes, a type of white blood cell. Also refers to tissue in which lymphocytes develop. [NIH] Lymphoma: A general term for various neoplastic diseases of the lymphoid tissue. [NIH] Magnetic Resonance Imaging: Non-invasive method of demonstrating internal anatomy based on the principle that atomic nuclei in a strong magnetic field absorb pulses of radiofrequency energy and emit them as radiowaves which can be reconstructed into computerized images. The concept includes proton spin tomographic techniques. [NIH] Malabsorption: Impaired intestinal absorption of nutrients. [EU] Malformation: A morphologic developmental process. [EU]

defect

resulting

from

an

intrinsically

abnormal

Malignancy: A cancerous tumor that can invade and destroy nearby tissue and spread to other parts of the body. [NIH] Malignant: Cancerous; a growth with a tendency to invade and destroy nearby tissue and spread to other parts of the body. [NIH] Malignant tumor: A tumor capable of metastasizing. [NIH] Malnutrition: A condition caused by not eating enough food or not eating a balanced diet. [NIH]

Medical Records: Recording of pertinent information concerning patient's illness or illnesses. [NIH] MEDLINE: An online database of MEDLARS, the computerized bibliographic Medical Literature Analysis and Retrieval System of the National Library of Medicine. [NIH] Megaloblastic: A large abnormal red blood cell appearing in the blood in pernicious anaemia. [EU] Meiosis: A special method of cell division, occurring in maturation of the germ cells, by means of which each daughter nucleus receives half the number of chromosomes characteristic of the somatic cells of the species. [NIH] Melanocytes: Epidermal dendritic pigment cells which control long-term morphological color changes by alteration in their number or in the amount of pigment they produce and store in the pigment containing organelles called melanosomes. Melanophores are larger cells which do not exist in mammals. [NIH] Melanoma: A form of skin cancer that arises in melanocytes, the cells that produce pigment. Melanoma usually begins in a mole. [NIH] Membranes: Thin layers of tissue which cover parts of the body, separate adjacent cavities, or connect adjacent structures. [NIH] Memory: Complex mental function having four distinct phases: (1) memorizing or learning, (2) retention, (3) recall, and (4) recognition. Clinically, it is usually subdivided into immediate, recent, and remote memory. [NIH] Menopause: Permanent cessation of menstruation. [NIH] Menstrual Cycle: The period of the regularly recurring physiologic changes in the endometrium occurring during the reproductive period in human females and some primates and culminating in partial sloughing of the endometrium (menstruation). [NIH] Menstruation: The normal physiologic discharge through the vagina of blood and mucosal

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tissues from the nonpregnant uterus. [NIH] Mental deficiency: A condition of arrested or incomplete development of mind from inherent causes or induced by disease or injury. [NIH] Mental Disorders: Psychiatric illness or diseases manifested by breakdowns in the adaptational process expressed primarily as abnormalities of thought, feeling, and behavior producing either distress or impairment of function. [NIH] Mental Health: The state wherein the person is well adjusted. [NIH] Mental Retardation: Refers to sub-average general intellectual functioning which originated during the developmental period and is associated with impairment in adaptive behavior. [NIH]

MI: Myocardial infarction. Gross necrosis of the myocardium as a result of interruption of the blood supply to the area; it is almost always caused by atherosclerosis of the coronary arteries, upon which coronary thrombosis is usually superimposed. [NIH] Microbiology: The study of microorganisms such as fungi, bacteria, algae, archaea, and viruses. [NIH] Microscopy: The application of microscope magnification to the study of materials that cannot be properly seen by the unaided eye. [NIH] Microwaves: That portion of the electromagnetic spectrum lying between UHF (ultrahigh frequency) radio waves and heat (infrared) waves. Microwaves are used to generate heat, especially in some types of diathermy. They may cause heat damage to tissues. [NIH] Milliliter: A measure of volume for a liquid. A milliliter is approximately 950-times smaller than a quart and 30-times smaller than a fluid ounce. A milliliter of liquid and a cubic centimeter (cc) of liquid are the same. [NIH] Mineralization: The action of mineralizing; the state of being mineralized. [EU] Mobility: Capability of movement, of being moved, or of flowing freely. [EU] Modification: A change in an organism, or in a process in an organism, that is acquired from its own activity or environment. [NIH] Molecular: Of, pertaining to, or composed of molecules : a very small mass of matter. [EU] Molecule: A chemical made up of two or more atoms. The atoms in a molecule can be the same (an oxygen molecule has two oxygen atoms) or different (a water molecule has two hydrogen atoms and one oxygen atom). Biological molecules, such as proteins and DNA, can be made up of many thousands of atoms. [NIH] Monitor: An apparatus which automatically records such physiological signs as respiration, pulse, and blood pressure in an anesthetized patient or one undergoing surgical or other procedures. [NIH] Monosomy: The condition in which one chromosome of a pair is missing. In a normally diploid cell it is represented symbolically as 2N-1. [NIH] Morphogenesis: The development of the form of an organ, part of the body, or organism. [NIH]

Morphological: Relating to the configuration or the structure of live organs. [NIH] Morphology: The science of the form and structure of organisms (plants, animals, and other forms of life). [NIH] Mosaicism: The occurrence in an individual of two or more cell populations of different chromosomal constitutions, derived from a single zygote, as opposed to chimerism in which the different cell populations are derived from more than one zygote. [NIH]

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Motor Skills: Performance of complex motor acts. [NIH] Mucosa: A mucous membrane, or tunica mucosa. [EU] Multiple Myeloma: A malignant tumor of plasma cells usually arising in the bone marrow; characterized by diffuse involvement of the skeletal system, hyperglobulinemia, Bence-Jones proteinuria, and anemia. [NIH] Muscle Fibers: Large single cells, either cylindrical or prismatic in shape, that form the basic unit of muscle tissue. They consist of a soft contractile substance enclosed in a tubular sheath. [NIH] Muscular Atrophy: Derangement in size and number of muscle fibers occurring with aging, reduction in blood supply, or following immobilization, prolonged weightlessness, malnutrition, and particularly in denervation. [NIH] Muscular Dystrophies: A general term for a group of inherited disorders which are characterized by progressive degeneration of skeletal muscles. [NIH] Myasthenia: Muscular debility; any constitutional anomaly of muscle. [EU] Mydriatic: 1. Dilating the pupil. 2. Any drug that dilates the pupil. [EU] Myocardium: The muscle tissue of the heart composed of striated, involuntary muscle known as cardiac muscle. [NIH] Myotonic Dystrophy: A condition presenting muscle weakness and wasting which may be progressive. [NIH] Narcolepsy: A condition of unknown cause characterized by a periodic uncontrollable tendency to fall asleep. [NIH] NCI: National Cancer Institute. NCI, part of the National Institutes of Health of the United States Department of Health and Human Services, is the federal government's principal agency for cancer research. NCI conducts, coordinates, and funds cancer research, training, health information dissemination, and other programs with respect to the cause, diagnosis, prevention, and treatment of cancer. Access the NCI Web site at http://cancer.gov. [NIH] Necrosis: A pathological process caused by the progressive degradative action of enzymes that is generally associated with severe cellular trauma. It is characterized by mitochondrial swelling, nuclear flocculation, uncontrolled cell lysis, and ultimately cell death. [NIH] Need: A state of tension or dissatisfaction felt by an individual that impels him to action toward a goal he believes will satisfy the impulse. [NIH] Neoplasia: Abnormal and uncontrolled cell growth. [NIH] Neoplasm: A new growth of benign or malignant tissue. [NIH] Neoplastic: Pertaining to or like a neoplasm (= any new and abnormal growth); pertaining to neoplasia (= the formation of a neoplasm). [EU] Nephropathy: Disease of the kidneys. [EU] Nerve: A cordlike structure of nervous tissue that connects parts of the nervous system with other tissues of the body and conveys nervous impulses to, or away from, these tissues. [NIH] Nervous System: The entire nerve apparatus composed of the brain, spinal cord, nerves and ganglia. [NIH] Neural: 1. Pertaining to a nerve or to the nerves. 2. Situated in the region of the spinal axis, as the neutral arch. [EU] Neural tube defects: These defects include problems stemming from fetal development of the spinal cord, spine, brain, and skull, and include birth defects such as spina bifida, anencephaly, and encephalocele. Neural tube defects occur early in pregnancy at about 4 to

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6 weeks, usually before a woman knows she is pregnant. Many babies with neural tube defects have difficulty walking and with bladder and bowel control. [NIH] Neuroanatomy: Study of the anatomy of the nervous system as a specialty or discipline. [NIH]

Neuropathy: A problem in any part of the nervous system except the brain and spinal cord. Neuropathies can be caused by infection, toxic substances, or disease. [NIH] Neutrons: Electrically neutral elementary particles found in all atomic nuclei except light hydrogen; the mass is equal to that of the proton and electron combined and they are unstable when isolated from the nucleus, undergoing beta decay. Slow, thermal, epithermal, and fast neutrons refer to the energy levels with which the neutrons are ejected from heavier nuclei during their decay. [NIH] Nitrogen: An element with the atomic symbol N, atomic number 7, and atomic weight 14. Nitrogen exists as a diatomic gas and makes up about 78% of the earth's atmosphere by volume. It is a constituent of proteins and nucleic acids and found in all living cells. [NIH] Nonverbal Communication: Transmission of emotions, ideas, and attitudes between individuals in ways other than the spoken language. [NIH] Nuclei: A body of specialized protoplasm found in nearly all cells and containing the chromosomes. [NIH] Nucleic acid: Either of two types of macromolecule (DNA or RNA) formed by polymerization of nucleotides. Nucleic acids are found in all living cells and contain the information (genetic code) for the transfer of genetic information from one generation to the next. [NIH] Nucleus: A body of specialized protoplasm found in nearly all cells and containing the chromosomes. [NIH] Oestrogen: A generic term for oestrus-producing steroid compounds; the female sex hormones. In humans, oestrogen is formed in the ovary, possibly the adrenal cortex, the testis, and the foetoplacental unit; it has various functions in both sexes. It is responsible for the development of the female secondary sex characteristics, and during the menstrual cycle it acts on the female genitalia to produce an environment suitable for the fertilization, implantation, and nutrition of the early embryo. Oestrogen is used in oral contraceptives and as a palliative in cancer of the breast after menopause and cancer of the prostate; other uses include the relief of the discomforts of menopause, inhibition of lactation, and treatment of osteoporosis, threatened abortion, and various functional ovarian disorders. [EU]

Oncogene: A gene that normally directs cell growth. If altered, an oncogene can promote or allow the uncontrolled growth of cancer. Alterations can be inherited or caused by an environmental exposure to carcinogens. [NIH] Opacity: Degree of density (area most dense taken for reading). [NIH] Optic Disk: The portion of the optic nerve seen in the fundus with the ophthalmoscope. It is formed by the meeting of all the retinal ganglion cell axons as they enter the optic nerve. [NIH]

Oral Health: The optimal state of the mouth and normal functioning of the organs of the mouth without evidence of disease. [NIH] Osmotic: Pertaining to or of the nature of osmosis (= the passage of pure solvent from a solution of lesser to one of greater solute concentration when the two solutions are separated by a membrane which selectively prevents the passage of solute molecules, but is permeable to the solvent). [EU]

140 Turner Syndrome

Osteoporosis: Reduction of bone mass without alteration in the composition of bone, leading to fractures. Primary osteoporosis can be of two major types: postmenopausal osteoporosis and age-related (or senile) osteoporosis. [NIH] Otitis: Inflammation of the ear, which may be marked by pain, fever, abnormalities of hearing, hearing loss, tinnitus, and vertigo. [EU] Otitis Media: Inflammation of the middle ear. [NIH] Outpatient: A patient who is not an inmate of a hospital but receives diagnosis or treatment in a clinic or dispensary connected with the hospital. [NIH] Ovaries: The pair of female reproductive glands in which the ova, or eggs, are formed. The ovaries are located in the pelvis, one on each side of the uterus. [NIH] Ovary: Either of the paired glands in the female that produce the female germ cells and secrete some of the female sex hormones. [NIH] Ovulation: The discharge of a secondary oocyte from a ruptured graafian follicle. [NIH] Ovum: A female germ cell extruded from the ovary at ovulation. [NIH] Oxandrolone: A synthetic hormone with anabolic and androgenic properties. [NIH] Palate: The structure that forms the roof of the mouth. It consists of the anterior hard palate and the posterior soft palate. [NIH] Palliative: 1. Affording relief, but not cure. 2. An alleviating medicine. [EU] Pancreas: A mixed exocrine and endocrine gland situated transversely across the posterior abdominal wall in the epigastric and hypochondriac regions. The endocrine portion is comprised of the Islets of Langerhans, while the exocrine portion is a compound acinar gland that secretes digestive enzymes. [NIH] Pancreatic: Having to do with the pancreas. [NIH] Pancreatic cancer: Cancer of the pancreas, a salivary gland of the abdomen. [NIH] Papilledema: Swelling around the optic disk. [NIH] Paralysis: Loss of ability to move all or part of the body. [NIH] Parietal: 1. Of or pertaining to the walls of a cavity. 2. Pertaining to or located near the parietal bone, as the parietal lobe. [EU] Paroxysmal: Recurring in paroxysms (= spasms or seizures). [EU] Particle: A tiny mass of material. [EU] Patch: A piece of material used to cover or protect a wound, an injured part, etc.: a patch over the eye. [NIH] Pathogenesis: The cellular events and reactions that occur in the development of disease. [NIH]

Pathologic: 1. Indicative of or caused by a morbid condition. 2. Pertaining to pathology (= branch of medicine that treats the essential nature of the disease, especially the structural and functional changes in tissues and organs of the body caused by the disease). [EU] Pathophysiology: Altered functions in an individual or an organ due to disease. [NIH] Patient Education: The teaching or training of patients concerning their own health needs. [NIH]

Pelvic: Pertaining to the pelvis. [EU] Peptide: Any compound consisting of two or more amino acids, the building blocks of proteins. Peptides are combined to make proteins. [NIH] Perineal: Pertaining to the perineum. [EU]

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Peripheral blood: Blood circulating throughout the body. [NIH] Peritoneal: Having to do with the peritoneum (the tissue that lines the abdominal wall and covers most of the organs in the abdomen). [NIH] Peritoneal Cavity: The space enclosed by the peritoneum. It is divided into two portions, the greater sac and the lesser sac or omental bursa, which lies behind the stomach. The two sacs are connected by the foramen of Winslow, or epiploic foramen. [NIH] PH: The symbol relating the hydrogen ion (H+) concentration or activity of a solution to that of a given standard solution. Numerically the pH is approximately equal to the negative logarithm of H+ concentration expressed in molarity. pH 7 is neutral; above it alkalinity increases and below it acidity increases. [EU] Pharmacologic: Pertaining to pharmacology or to the properties and reactions of drugs. [EU] Phenotype: The outward appearance of the individual. It is the product of interactions between genes and between the genotype and the environment. This includes the killer phenotype, characteristic of yeasts. [NIH] Phospholipids: Lipids containing one or more phosphate groups, particularly those derived from either glycerol (phosphoglycerides; glycerophospholipids) or sphingosine (sphingolipids). They are polar lipids that are of great importance for the structure and function of cell membranes and are the most abundant of membrane lipids, although not stored in large amounts in the system. [NIH] Phosphorus: A non-metallic element that is found in the blood, muscles, nevers, bones, and teeth, and is a component of adenosine triphosphate (ATP; the primary energy source for the body's cells.) [NIH] Phosphorylation: The introduction of a phosphoryl group into a compound through the formation of an ester bond between the compound and a phosphorus moiety. [NIH] Physical Examination: Systematic and thorough inspection of the patient for physical signs of disease or abnormality. [NIH] Physiologic: Having to do with the functions of the body. When used in the phrase "physiologic age," it refers to an age assigned by general health, as opposed to calendar age. [NIH]

Physiology: The science that deals with the life processes and functions of organismus, their cells, tissues, and organs. [NIH] Pigment: A substance that gives color to tissue. Pigments are responsible for the color of skin, eyes, and hair. [NIH] Pitch: The subjective awareness of the frequency or spectral distribution of a sound. [NIH] Placenta: A highly vascular fetal organ through which the fetus absorbs oxygen and other nutrients and excretes carbon dioxide and other wastes. It begins to form about the eighth day of gestation when the blastocyst adheres to the decidua. [NIH] Plants: Multicellular, eukaryotic life forms of the kingdom Plantae. They are characterized by a mainly photosynthetic mode of nutrition; essentially unlimited growth at localized regions of cell divisions (meristems); cellulose within cells providing rigidity; the absence of organs of locomotion; absense of nervous and sensory systems; and an alteration of haploid and diploid generations. [NIH] Plasma: The clear, yellowish, fluid part of the blood that carries the blood cells. The proteins that form blood clots are in plasma. [NIH] Plasma cells: A type of white blood cell that produces antibodies. [NIH] Plasma protein: One of the hundreds of different proteins present in blood plasma,

142 Turner Syndrome

including carrier proteins ( such albumin, transferrin, and haptoglobin), fibrinogen and other coagulation factors, complement components, immunoglobulins, enzyme inhibitors, precursors of substances such as angiotension and bradykinin, and many other types of proteins. [EU] Pleura: The thin serous membrane enveloping the lungs and lining the thoracic cavity. [NIH] Pleural: A circumscribed area of hyaline whorled fibrous tissue which appears on the surface of the parietal pleura, on the fibrous part of the diaphragm or on the pleura in the interlobar fissures. [NIH] Pleural cavity: A space enclosed by the pleura (thin tissue covering the lungs and lining the interior wall of the chest cavity). It is bound by thin membranes. [NIH] Pleural Effusion: Presence of fluid in the pleural cavity resulting from excessive transudation or exudation from the pleural surfaces. It is a sign of disease and not a diagnosis in itself. [NIH] Polycystic: An inherited disorder characterized by many grape-like clusters of fluid-filled cysts that make both kidneys larger over time. These cysts take over and destroy working kidney tissue. PKD may cause chronic renal failure and end-stage renal disease. [NIH] Polymerase: An enzyme which catalyses the synthesis of DNA using a single DNA strand as a template. The polymerase copies the template in the 5'-3'direction provided that sufficient quantities of free nucleotides, dATP and dTTP are present. [NIH] Polymerase Chain Reaction: In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). The essential steps include thermal denaturation of the double-stranded target molecules, annealing of the primers to their complementary sequences, and extension of the annealed primers by enzymatic synthesis with DNA polymerase. The reaction is efficient, specific, and extremely sensitive. Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships. [NIH] Polypeptide: A peptide which on hydrolysis yields more than two amino acids; called tripeptides, tetrapeptides, etc. according to the number of amino acids contained. [EU] Polysaccharide: A type of carbohydrate. It contains sugar molecules that are linked together chemically. [NIH] Posterior: Situated in back of, or in the back part of, or affecting the back or dorsal surface of the body. In lower animals, it refers to the caudal end of the body. [EU] Postmenopausal: Refers to the time after menopause. Menopause is the time in a woman's life when menstrual periods stop permanently; also called "change of life." [NIH] Postnatal: Occurring after birth, with reference to the newborn. [EU] Practice Guidelines: Directions or principles presenting current or future rules of policy for the health care practitioner to assist him in patient care decisions regarding diagnosis, therapy, or related clinical circumstances. The guidelines may be developed by government agencies at any level, institutions, professional societies, governing boards, or by the convening of expert panels. The guidelines form a basis for the evaluation of all aspects of health care and delivery. [NIH] Prefrontal Cortex: The rostral part of the frontal lobe, bounded by the inferior precentral fissure in humans, which receives projection fibers from the mediodorsal nucleus of the thalamus. The prefrontal cortex receives afferent fibers from numerous structures of the diencephalon, mesencephalon, and limbic system as well as cortical afferents of visual, auditory, and somatic origin. [NIH]

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Pregnancy Outcome: Results of conception and ensuing pregnancy, including live birth, stillbirth, spontaneous abortion, induced abortion. The outcome may follow natural or artificial insemination or any of the various reproduction techniques, such as embryo transfer or fertilization in vitro. [NIH] Prenatal: Existing or occurring before birth, with reference to the fetus. [EU] Prevalence: The total number of cases of a given disease in a specified population at a designated time. It is differentiated from incidence, which refers to the number of new cases in the population at a given time. [NIH] Primary Biliary Cirrhosis: A chronic liver disease. Slowly destroys the bile ducts in the liver. This prevents release of bile. Long-term irritation of the liver may cause scarring and cirrhosis in later stages of the disease. [NIH] Progesterone: Pregn-4-ene-3,20-dione. The principal progestational hormone of the body, secreted by the corpus luteum, adrenal cortex, and placenta. Its chief function is to prepare the uterus for the reception and development of the fertilized ovum. It acts as an antiovulatory agent when administered on days 5-25 of the menstrual cycle. [NIH] Progressive: Advancing; going forward; going from bad to worse; increasing in scope or severity. [EU] Projection: A defense mechanism, operating unconsciously, whereby that which is emotionally unacceptable in the self is rejected and attributed (projected) to others. [NIH] Prolapse: The protrusion of an organ or part of an organ into a natural or artificial orifice. [NIH]

Proline: A non-essential amino acid that is synthesized from glutamic acid. It is an essential component of collagen and is important for proper functioning of joints and tendons. [NIH] Prospective study: An epidemiologic study in which a group of individuals (a cohort), all free of a particular disease and varying in their exposure to a possible risk factor, is followed over a specific amount of time to determine the incidence rates of the disease in the exposed and unexposed groups. [NIH] Prostate: A gland in males that surrounds the neck of the bladder and the urethra. It secretes a substance that liquifies coagulated semen. It is situated in the pelvic cavity behind the lower part of the pubic symphysis, above the deep layer of the triangular ligament, and rests upon the rectum. [NIH] Protease: Proteinase (= any enzyme that catalyses the splitting of interior peptide bonds in a protein). [EU] Protein C: A vitamin-K dependent zymogen present in the blood, which, upon activation by thrombin and thrombomodulin exerts anticoagulant properties by inactivating factors Va and VIIIa at the rate-limiting steps of thrombin formation. [NIH] Protein S: The vitamin K-dependent cofactor of activated protein C. Together with protein C, it inhibits the action of factors VIIIa and Va. A deficiency in protein S can lead to recurrent venous and arterial thrombosis. [NIH] Proteins: Polymers of amino acids linked by peptide bonds. The specific sequence of amino acids determines the shape and function of the protein. [NIH] Proteinuria: The presence of protein in the urine, indicating that the kidneys are not working properly. [NIH] Protons: Stable elementary particles having the smallest known positive charge, found in the nuclei of all elements. The proton mass is less than that of a neutron. A proton is the nucleus of the light hydrogen atom, i.e., the hydrogen ion. [NIH]

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Psychiatric: Pertaining to or within the purview of psychiatry. [EU] Puberty: The period during which the secondary sex characteristics begin to develop and the capability of sexual reproduction is attained. [EU] Public Policy: A course or method of action selected, usually by a government, from among alternatives to guide and determine present and future decisions. [NIH] Pulmonary: Relating to the lungs. [NIH] Pulmonary Artery: The short wide vessel arising from the conus arteriosus of the right ventricle and conveying unaerated blood to the lungs. [NIH] Pulse: The rhythmical expansion and contraction of an artery produced by waves of pressure caused by the ejection of blood from the left ventricle of the heart as it contracts. [NIH]

Pupil: The aperture in the iris through which light passes. [NIH] Quality of Life: A generic concept reflecting concern with the modification and enhancement of life attributes, e.g., physical, political, moral and social environment. [NIH] Race: A population within a species which exhibits general similarities within itself, but is both discontinuous and distinct from other populations of that species, though not sufficiently so as to achieve the status of a taxon. [NIH] Radiation: Emission or propagation of electromagnetic energy (waves/rays), or the waves/rays themselves; a stream of electromagnetic particles (electrons, neutrons, protons, alpha particles) or a mixture of these. The most common source is the sun. [NIH] Radio Waves: That portion of the electromagnetic spectrum beyond the microwaves, with wavelengths as high as 30 KM. They are used in communications, including television. Short Wave or HF (high frequency), UHF (ultrahigh frequency) and VHF (very high frequency) waves are used in citizen's band communication. [NIH] Radioactive: Giving off radiation. [NIH] Radiology: A specialty concerned with the use of x-ray and other forms of radiant energy in the diagnosis and treatment of disease. [NIH] Randomized: Describes an experiment or clinical trial in which animal or human subjects are assigned by chance to separate groups that compare different treatments. [NIH] Reactivation: The restoration of activity to something that has been inactivated. [EU] Receptor: A molecule inside or on the surface of a cell that binds to a specific substance and causes a specific physiologic effect in the cell. [NIH] Recombinant: A cell or an individual with a new combination of genes not found together in either parent; usually applied to linked genes. [EU] Recombination: The formation of new combinations of genes as a result of segregation in crosses between genetically different parents; also the rearrangement of linked genes due to crossing-over. [NIH] Rectum: The last 8 to 10 inches of the large intestine. [NIH] Red Nucleus: A pinkish-yellow portion of the midbrain situated in the rostral mesencephalic tegmentum. It receives a large projection from the contralateral half of the cerebellum via the superior cerebellar peduncle and a projection from the ipsilateral motor cortex. [NIH] Refer: To send or direct for treatment, aid, information, de decision. [NIH] Regimen: A treatment plan that specifies the dosage, the schedule, and the duration of treatment. [NIH]

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Reproduction Techniques: Methods pertaining to the generation of new individuals. [NIH] Reproductive cells: Egg and sperm cells. Each mature reproductive cell carries a single set of 23 chromosomes. [NIH] Research Design: A plan for collecting and utilizing data so that desired information can be obtained with sufficient precision or so that an hypothesis can be tested properly. [NIH] Respiration: The act of breathing with the lungs, consisting of inspiration, or the taking into the lungs of the ambient air, and of expiration, or the expelling of the modified air which contains more carbon dioxide than the air taken in (Blakiston's Gould Medical Dictionary, 4th ed.). This does not include tissue respiration (= oxygen consumption) or cell respiration (= cell respiration). [NIH] Restoration: Broad term applied to any inlay, crown, bridge or complete denture which restores or replaces loss of teeth or oral tissues. [NIH] Retinoblastoma: An eye cancer that most often occurs in children younger than 5 years. It occurs in hereditary and nonhereditary (sporadic) forms. [NIH] Retrocochlear: Hearing loss in which the air conduction threshold and the bone conduction threshold have risen almost equally with no gap between them. In such cases the defect is usually either in the cochlea of the inner ear or in the central pathways. [NIH] Retrospective: Looking back at events that have already taken place. [NIH] Retrospective study: A study that looks backward in time, usually using medical records and interviews with patients who already have or had a disease. [NIH] Risk factor: A habit, trait, condition, or genetic alteration that increases a person's chance of developing a disease. [NIH] Salivary: The duct that convey saliva to the mouth. [NIH] Salivary glands: Glands in the mouth that produce saliva. [NIH] Saponins: Sapogenin glycosides. A type of glycoside widely distributed in plants. Each consists of a sapogenin as the aglycon moiety, and a sugar. The sapogenin may be a steroid or a triterpene and the sugar may be glucose, galactose, a pentose, or a methylpentose. Sapogenins are poisonous towards the lower forms of life and are powerful hemolytics when injected into the blood stream able to dissolve red blood cells at even extreme dilutions. [NIH] Satellite: Applied to a vein which closely accompanies an artery for some distance; in cytogenetics, a chromosomal agent separated by a secondary constriction from the main body of the chromosome. [NIH] Scans: Pictures of structures inside the body. Scans often used in diagnosing, staging, and monitoring disease include liver scans, bone scans, and computed tomography (CT) or computerized axial tomography (CAT) scans and magnetic resonance imaging (MRI) scans. In liver scanning and bone scanning, radioactive substances that are injected into the bloodstream collect in these organs. A scanner that detects the radiation is used to create pictures. In CT scanning, an x-ray machine linked to a computer is used to produce detailed pictures of organs inside the body. MRI scans use a large magnet connected to a computer to create pictures of areas inside the body. [NIH] Schizophrenia: A mental disorder characterized by a special type of disintegration of the personality. [NIH] Sclerosis: A pathological process consisting of hardening or fibrosis of an anatomical structure, often a vessel or a nerve. [NIH] Scoliosis: A lateral curvature of the spine. [NIH]

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Screening: Checking for disease when there are no symptoms. [NIH] Secretion: 1. The process of elaborating a specific product as a result of the activity of a gland; this activity may range from separating a specific substance of the blood to the elaboration of a new chemical substance. 2. Any substance produced by secretion. [EU] Sediment: A precipitate, especially one that is formed spontaneously. [EU] Segmental: Describing or pertaining to a structure which is repeated in similar form in successive segments of an organism, or which is undergoing segmentation. [NIH] Segmentation: The process by which muscles in the intestines move food and wastes through the body. [NIH] Segregation: The separation in meiotic cell division of homologous chromosome pairs and their contained allelomorphic gene pairs. [NIH] Seizures: Clinical or subclinical disturbances of cortical function due to a sudden, abnormal, excessive, and disorganized discharge of brain cells. Clinical manifestations include abnormal motor, sensory and psychic phenomena. Recurrent seizures are usually referred to as epilepsy or "seizure disorder." [NIH] Semen: The thick, yellowish-white, viscid fluid secretion of male reproductive organs discharged upon ejaculation. In addition to reproductive organ secretions, it contains spermatozoa and their nutrient plasma. [NIH] Seminiferous tubule: Tube used to transport sperm made in the testes. [NIH] Seminoma: A type of cancer of the testicles. [NIH] Senile: Relating or belonging to old age; characteristic of old age; resulting from infirmity of old age. [NIH] Sequencing: The determination of the order of nucleotides in a DNA or RNA chain. [NIH] Serum: The clear liquid part of the blood that remains after blood cells and clotting proteins have been removed. [NIH] Sex Characteristics: Those characteristics that distinguish one sex from the other. The primary sex characteristics are the ovaries and testes and their related hormones. Secondary sex characteristics are those which are masculine or feminine but not directly related to reproduction. [NIH] Sex Determination: The biological characteristics which distinguish human beings as female or male. [NIH] Shyness: Discomfort and partial inhibition of the usual forms of behavior when in the presence of others. [NIH] Side effect: A consequence other than the one(s) for which an agent or measure is used, as the adverse effects produced by a drug, especially on a tissue or organ system other than the one sought to be benefited by its administration. [EU] Skeletal: Having to do with the skeleton (boney part of the body). [NIH] Skeleton: The framework that supports the soft tissues of vertebrate animals and protects many of their internal organs. The skeletons of vertebrates are made of bone and/or cartilage. [NIH] Skull: The skeleton of the head including the bones of the face and the bones enclosing the brain. [NIH] Small intestine: The part of the digestive tract that is located between the stomach and the large intestine. [NIH] Social Environment: The aggregate of social and cultural institutions, forms, patterns, and

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processes that influence the life of an individual or community. [NIH] Soma: The body as distinct from the mind; all the body tissue except the germ cells; all the axial body. [NIH] Somatic: 1. Pertaining to or characteristic of the soma or body. 2. Pertaining to the body wall in contrast to the viscera. [EU] Somatic cells: All the body cells except the reproductive (germ) cells. [NIH] Sound wave: An alteration of properties of an elastic medium, such as pressure, particle displacement, or density, that propagates through the medium, or a superposition of such alterations. [NIH] Specialist: In medicine, one who concentrates on 1 special branch of medical science. [NIH] Species: A taxonomic category subordinate to a genus (or subgenus) and superior to a subspecies or variety, composed of individuals possessing common characters distinguishing them from other categories of individuals of the same taxonomic level. In taxonomic nomenclature, species are designated by the genus name followed by a Latin or Latinized adjective or noun. [EU] Spectrum: A charted band of wavelengths of electromagnetic vibrations obtained by refraction and diffraction. By extension, a measurable range of activity, such as the range of bacteria affected by an antibiotic (antibacterial s.) or the complete range of manifestations of a disease. [EU] Sperm: The fecundating fluid of the male. [NIH] Spermatozoa: Mature male germ cells that develop in the seminiferous tubules of the testes. Each consists of a head, a body, and a tail that provides propulsion. The head consists mainly of chromatin. [NIH] Spina bifida: A defect in development of the vertebral column in which there is a central deficiency of the vertebral lamina. [NIH] Spinal cord: The main trunk or bundle of nerves running down the spine through holes in the spinal bone (the vertebrae) from the brain to the level of the lower back. [NIH] Spontaneous Abortion: The non-induced birth of an embryo or of fetus prior to the stage of viability at about 20 weeks of gestation. [NIH] Sporadic: Neither endemic nor epidemic; occurring occasionally in a random or isolated manner. [EU] Staging: Performing exams and tests to learn the extent of the cancer within the body, especially whether the disease has spread from the original site to other parts of the body. [NIH]

Stanozolol: Anabolic agent. [NIH] Sterility: 1. The inability to produce offspring, i.e., the inability to conceive (female s.) or to induce conception (male s.). 2. The state of being aseptic, or free from microorganisms. [EU] Steroid: A group name for lipids that contain a hydrogenated cyclopentanoperhydrophenanthrene ring system. Some of the substances included in this group are progesterone, adrenocortical hormones, the gonadal hormones, cardiac aglycones, bile acids, sterols (such as cholesterol), toad poisons, saponins, and some of the carcinogenic hydrocarbons. [EU] Stillbirth: The birth of a dead fetus or baby. [NIH] Stimulus: That which can elicit or evoke action (response) in a muscle, nerve, gland or other excitable issue, or cause an augmenting action upon any function or metabolic process. [NIH]

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Stomach: An organ of digestion situated in the left upper quadrant of the abdomen between the termination of the esophagus and the beginning of the duodenum. [NIH] Strand: DNA normally exists in the bacterial nucleus in a helix, in which two strands are coiled together. [NIH] Stroke: Sudden loss of function of part of the brain because of loss of blood flow. Stroke may be caused by a clot (thrombosis) or rupture (hemorrhage) of a blood vessel to the brain. [NIH] Subacute: Somewhat acute; between acute and chronic. [EU] Subclinical: Without clinical manifestations; said of the early stage(s) of an infection or other disease or abnormality before symptoms and signs become apparent or detectable by clinical examination or laboratory tests, or of a very mild form of an infection or other disease or abnormality. [EU] Subspecies: A category intermediate in rank between species and variety, based on a smaller number of correlated characters than are used to differentiate species and generally conditioned by geographical and/or ecological occurrence. [NIH] Substance P: An eleven-amino acid neurotransmitter that appears in both the central and peripheral nervous systems. It is involved in transmission of pain, causes rapid contractions of the gastrointestinal smooth muscle, and modulates inflammatory and immune responses. [NIH]

Supplementation: Adding nutrients to the diet. [NIH] Symphysis: A secondary cartilaginous joint. [NIH] Synaptonemal Complex: The three-part structure of ribbon-like proteinaceous material that serves to align and join the paired homologous chromosomes during the pachytene stage of meiotic division. It is a prerequisite for crossing-over. [NIH] Systemic: Affecting the entire body. [NIH] Systolic: Indicating the maximum arterial pressure during contraction of the left ventricle of the heart. [EU] Telangiectasia: The permanent enlargement of blood vessels, causing redness in the skin or mucous membranes. [NIH] Telomere: A terminal section of a chromosome which has a specialized structure and which is involved in chromosomal replication and stability. Its length is believed to be a few hundred base pairs. [NIH] Temporal: One of the two irregular bones forming part of the lateral surfaces and base of the skull, and containing the organs of hearing. [NIH] Temporal Lobe: Lower lateral part of the cerebral hemisphere. [NIH] Testis: Either of the paired male reproductive glands that produce the male germ cells and the male hormones. [NIH] Testosterone: A hormone that promotes the development and maintenance of male sex characteristics. [NIH] Thalamic: Cell that reaches the lateral nucleus of amygdala. [NIH] Thalamic Diseases: Disorders of the centrally located thalamus, which integrates a wide range of cortical and subcortical information. Manifestations include sensory loss, movement disorders; ataxia, pain syndromes, visual disorders, a variety of neuropsychological conditions, and coma. Relatively common etiologies include cerebrovascular disorders; craniocerebral trauma; brain neoplasms; brain hypoxia; intracranial hemorrhages; and infectious processes. [NIH]

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Thalamus: Paired bodies containing mostly gray substance and forming part of the lateral wall of the third ventricle of the brain. The thalamus represents the major portion of the diencephalon and is commonly divided into cellular aggregates known as nuclear groups. [NIH]

Thalassemia: A group of hereditary hemolytic anemias in which there is decreased synthesis of one or more hemoglobin polypeptide chains. There are several genetic types with clinical pictures ranging from barely detectable hematologic abnormality to severe and fatal anemia. [NIH] Therapeutics: The branch of medicine which is concerned with the treatment of diseases, palliative or curative. [NIH] Thermal: Pertaining to or characterized by heat. [EU] Thigh: A leg; in anatomy, any elongated process or part of a structure more or less comparable to a leg. [NIH] Thorax: A part of the trunk between the neck and the abdomen; the chest. [NIH] Threonine: An essential amino acid occurring naturally in the L-form, which is the active form. It is found in eggs, milk, gelatin, and other proteins. [NIH] Threshold: For a specified sensory modality (e. g. light, sound, vibration), the lowest level (absolute threshold) or smallest difference (difference threshold, difference limen) or intensity of the stimulus discernible in prescribed conditions of stimulation. [NIH] Thrombin: An enzyme formed from prothrombin that converts fibrinogen to fibrin. (Dorland, 27th ed) EC 3.4.21.5. [NIH] Thrombomodulin: A cell surface glycoprotein of endothelial cells that binds thrombin and serves as a cofactor in the activation of protein C and its regulation of blood coagulation. [NIH]

Thrombosis: The formation or presence of a blood clot inside a blood vessel. [NIH] Thyroid: A gland located near the windpipe (trachea) that produces thyroid hormone, which helps regulate growth and metabolism. [NIH] Thyroid Gland: A highly vascular endocrine gland consisting of two lobes, one on either side of the trachea, joined by a narrow isthmus; it produces the thyroid hormones which are concerned in regulating the metabolic rate of the body. [NIH] Thyroiditis: Inflammation of the thyroid gland. [NIH] Thyrotropin: A peptide hormone secreted by the anterior pituitary. It promotes the growth of the thyroid gland and stimulates the synthesis of thyroid hormones and the release of thyroxine by the thyroid gland. [NIH] Thyroxine: An amino acid of the thyroid gland which exerts a stimulating effect on thyroid metabolism. [NIH] Tinnitus: Sounds that are perceived in the absence of any external noise source which may take the form of buzzing, ringing, clicking, pulsations, and other noises. Objective tinnitus refers to noises generated from within the ear or adjacent structures that can be heard by other individuals. The term subjective tinnitus is used when the sound is audible only to the affected individual. Tinnitus may occur as a manifestation of cochlear diseases; vestibulocochlear nerve diseases; intracranial hypertension; craniocerebral trauma; and other conditions. [NIH] Tissue: A group or layer of cells that are alike in type and work together to perform a specific function. [NIH] Tolerance: 1. The ability to endure unusually large doses of a drug or toxin. 2. Acquired

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drug tolerance; a decreasing response to repeated constant doses of a drug or the need for increasing doses to maintain a constant response. [EU] Tomography: Imaging methods that result in sharp images of objects located on a chosen plane and blurred images located above or below the plane. [NIH] Toxic: Having to do with poison or something harmful to the body. Toxic substances usually cause unwanted side effects. [NIH] Toxicity: The quality of being poisonous, especially the degree of virulence of a toxic microbe or of a poison. [EU] Toxicology: The science concerned with the detection, chemical composition, and pharmacologic action of toxic substances or poisons and the treatment and prevention of toxic manifestations. [NIH] Toxins: Specific, characterizable, poisonous chemicals, often proteins, with specific biological properties, including immunogenicity, produced by microbes, higher plants, or animals. [NIH] Trace element: Substance or element essential to plant or animal life, but present in extremely small amounts. [NIH] Trachea: The cartilaginous and membranous tube descending from the larynx and branching into the right and left main bronchi. [NIH] Transdermal: Entering through the dermis, or skin, as in administration of a drug applied to the skin in ointment or patch form. [EU] Transfection: The uptake of naked or purified DNA into cells, usually eukaryotic. It is analogous to bacterial transformation. [NIH] Translocation: The movement of material in solution inside the body of the plant. [NIH] Trauma: Any injury, wound, or shock, must frequently physical or structural shock, producing a disturbance. [NIH] Triad: Trivalent. [NIH] Trisomy: The possession of a third chromosome of any one type in an otherwise diploid cell. [NIH]

Tryptophan: An essential amino acid that is necessary for normal growth in infants and for nitrogen balance in adults. It is a precursor serotonin and niacin. [NIH] Tuberculosis: Any of the infectious diseases of man and other animals caused by species of Mycobacterium. [NIH] Tuberous Sclerosis: A rare congenital disease in which the essential pathology is the appearance of multiple tumors in the cerebrum and in other organs, such as the heart or kidneys. [NIH] Ultrasonography: The visualization of deep structures of the body by recording the reflections of echoes of pulses of ultrasonic waves directed into the tissues. Use of ultrasound for imaging or diagnostic purposes employs frequencies ranging from 1.6 to 10 megahertz. [NIH] Unconscious: Experience which was once conscious, but was subsequently rejected, as the "personal unconscious". [NIH] Urethra: The tube through which urine leaves the body. It empties urine from the bladder. [NIH]

Urinalysis: Examination of urine by chemical, physical, or microscopic means. Routine urinalysis usually includes performing chemical screening tests, determining specific gravity, observing any unusual color or odor, screening for bacteriuria, and examining the

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sediment microscopically. [NIH] Urinary: Having to do with urine or the organs of the body that produce and get rid of urine. [NIH] Urine: Fluid containing water and waste products. Urine is made by the kidneys, stored in the bladder, and leaves the body through the urethra. [NIH] Uterus: The small, hollow, pear-shaped organ in a woman's pelvis. This is the organ in which a fetus develops. Also called the womb. [NIH] Vagina: The muscular canal extending from the uterus to the exterior of the body. Also called the birth canal. [NIH] Vaginal: Of or having to do with the vagina, the birth canal. [NIH] Vascular: Pertaining to blood vessels or indicative of a copious blood supply. [EU] Vasomotor: 1. Affecting the calibre of a vessel, especially of a blood vessel. 2. Any element or agent that effects the calibre of a blood vessel. [EU] Vein: Vessel-carrying blood from various parts of the body to the heart. [NIH] Venous: Of or pertaining to the veins. [EU] Ventricle: One of the two pumping chambers of the heart. The right ventricle receives oxygen-poor blood from the right atrium and pumps it to the lungs through the pulmonary artery. The left ventricle receives oxygen-rich blood from the left atrium and pumps it to the body through the aorta. [NIH] Venules: The minute vessels that collect blood from the capillary plexuses and join together to form veins. [NIH] Vertigo: An illusion of movement; a sensation as if the external world were revolving around the patient (objective vertigo) or as if he himself were revolving in space (subjective vertigo). The term is sometimes erroneously used to mean any form of dizziness. [EU] Veterinary Medicine: The medical science concerned with the prevention, diagnosis, and treatment of diseases in animals. [NIH] Villous: Of a surface, covered with villi. [NIH] Virus: Submicroscopic organism that causes infectious disease. In cancer therapy, some viruses may be made into vaccines that help the body build an immune response to, and kill, tumor cells. [NIH] Viscera: Any of the large interior organs in any one of the three great cavities of the body, especially in the abdomen. [NIH] Vitro: Descriptive of an event or enzyme reaction under experimental investigation occurring outside a living organism. Parts of an organism or microorganism are used together with artificial substrates and/or conditions. [NIH] Vivo: Outside of or removed from the body of a living organism. [NIH] Voice Disorders: Disorders of voice pitch, loudness, or quality. Dysphonia refers to impaired utterance of sounds by the vocal folds. [NIH] Windpipe: A rigid tube, 10 cm long, extending from the cricoid cartilage to the upper border of the fifth thoracic vertebra. [NIH] X-ray: High-energy radiation used in low doses to diagnose diseases and in high doses to treat cancer. [NIH] Yeasts: A general term for single-celled rounded fungi that reproduce by budding. Brewers' and bakers' yeasts are Saccharomyces cerevisiae; therapeutic dried yeast is dried yeast. [NIH]

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Zygote: The fertilized ovum. [NIH] Zymogen: Inactive form of an enzyme which can then be converted to the active form, usually by excision of a polypeptide, e. g. trypsinogen is the zymogen of trypsin. [NIH]

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INDEX A Abdomen, 77, 117, 121, 135, 140, 141, 148, 149, 151 ACE, 26, 117 Adipocytes, 117, 134 Adjustment, 7, 117 Adolescence, 52, 53, 54, 68, 117 Adolescent Psychiatry, 10, 117 Adrenal Cortex, 117, 125, 127, 139, 143 Adverse Effect, 117, 146 Afferent, 117, 134, 142 Agenesis, 53, 117 Albumin, 40, 117, 142 Algorithms, 117, 120 Alkaline, 44, 117 Alkaline Phosphatase, 44, 117 Alpha Particles, 117, 144 Alpha-fetoprotein, 38, 80, 117, 128 Alternative medicine, 86, 117 Aluminum, 68, 118 Alveoli, 118, 125 Amenorrhea, 54, 118 Amino Acid Sequence, 118 Amygdala, 26, 118, 120, 135, 148 Amyotrophy, 44, 118 Anabolic, 32, 61, 118, 140, 147 Anal, 118, 127, 135 Anatomical, 118, 132, 145 Androgenic, 118, 140 Androgens, 58, 117, 118 Anemia, 99, 118, 128, 138, 149 Aneuploidy, 23, 32, 118 Aneurysm, 118, 119 Anions, 117, 118, 134 Annealing, 118, 142 Anomalies, 4, 55, 118 Antibiotic, 4, 118, 147 Antibiotic Prophylaxis, 4, 118 Antibodies, 35, 118, 119, 136, 141 Antibody, 118, 119, 123, 131, 133 Anticoagulant, 119, 143 Antigen, 34, 35, 118, 119, 123, 131, 133 Antiviral, 119, 133 Anxiety, 77, 119 Aorta, 5, 75, 119, 151 Aortic Coarctation, 15, 119 Aortic Rupture, 85, 119 Aortic Valve, 75, 119

Aqueous, 119, 120 Arterial, 119, 132, 143, 148 Arteries, 119, 121, 124, 125, 137 Arterioles, 119, 121 Arthroplasty, 47, 119 Articulation, 5, 119 Ascites, 37, 119 Ataxia, 98, 99, 119, 148 Atrophy, 98, 99, 119 Atypical, 18, 44, 119 Audiovisual Aids, 105, 119 Auditory, 4, 119, 130, 142 Autoantibodies, 39, 119, 120 Autoantigens, 119 B Bacteria, 118, 119, 120, 132, 137, 147 Bacteriuria, 120, 150 Basal Ganglia, 119, 120, 135 Basal Ganglia Diseases, 119, 120 Base, 4, 51, 120, 125, 134, 148 Bile, 120, 129, 135, 143, 147 Bile Ducts, 120, 143 Bilirubin, 117, 120 Biochemical, 6, 120 Biological Markers, 10, 120 Biological response modifier, 120, 133 Biological therapy, 120, 130 Biopsy, 75, 120 Biotechnology, 12, 81, 86, 95, 97, 98, 99, 100, 120 Bladder, 121, 139, 143, 150, 151 Blood Glucose, 121, 130, 133 Blood pressure, 16, 51, 58, 64, 74, 76, 113, 121, 122, 132, 137 Blood vessel, 117, 121, 122, 126, 129, 131, 134, 135, 148, 149, 151 Body Composition, 35, 49, 61, 77, 121 Bone Conduction, 121, 145 Bone Density, 64, 74, 76, 121 Bone Marrow, 121, 135, 138 Bone scan, 121, 145 Bowel, 118, 121, 126, 133, 139 Bowel Movement, 121, 126 Branch, 111, 121, 125, 140, 147, 149 Buccal, 121, 135 C Capillary, 43, 121, 151

154 Turner Syndrome

Carbohydrate, 17, 18, 22, 24, 59, 75, 77, 121, 130, 142 Carcinogenic, 121, 147 Carcinogens, 121, 122, 139 Cardiac, 4, 18, 121, 138, 147 Cardiovascular, 24, 51, 64, 103, 121, 122 Cardiovascular Abnormalities, 51, 64, 121 Cardiovascular disease, 24, 122 Cardiovascular System, 122 Case report, 3, 23, 37, 56, 122 Caudal, 122, 126, 142 Celiac Disease, 35, 122 Cell, 6, 9, 34, 44, 47, 51, 74, 80, 98, 99, 117, 118, 119, 120, 122, 123, 125, 127, 129, 130, 133, 136, 137, 138, 139, 140, 141, 144, 145, 146, 148, 149, 150 Cell Division, 98, 120, 122, 125, 130, 136, 141, 146 Cell Survival, 122, 130 Cerebellar, 119, 122, 144 Cerebral, 119, 120, 122, 127, 128, 129, 148 Cerebrovascular, 120, 122, 148 Cerebrum, 122, 150 Check-up, 76, 122 Cholesterol, 76, 120, 122, 125, 147 Chromatin, 6, 35, 122, 147 Chromium, 67, 122 Chromosomal, 10, 14, 28, 29, 35, 48, 54, 103, 104, 118, 122, 137, 145, 148 Chronic, 4, 26, 80, 98, 122, 127, 131, 133, 134, 142, 143, 148 Chronic renal, 122, 142 Clinical trial, 5, 73, 77, 95, 122, 124, 144 Cloning, 120, 123 Cochlea, 123, 133, 145 Cochlear, 4, 123, 149 Cofactor, 123, 143, 149 Cognition, 6, 9, 14, 54, 73, 123, 134 Colitis, 123, 133 Collagen, 36, 123, 129, 143 Colloidal, 117, 123 Combination Therapy, 32, 61, 123, 128 Communication Disorders, 5, 19, 78, 94, 123 Complement, 123, 124, 134, 142 Complementary and alternative medicine, 67, 69, 123 Complementary medicine, 67, 124 Computational Biology, 95, 97, 124 Computed tomography, 43, 62, 121, 124, 145 Computerized axial tomography, 124, 145

Computerized tomography, 75, 124 Conception, 124, 128, 143, 147 Conduction, 124, 145 Connective Tissue, 121, 123, 124, 128, 129, 135 Constitutional, 124, 138 Constriction, 124, 134, 145 Consultation, 11, 124 Contraindications, ii, 124 Control group, 7, 124 Controlled study, 28, 60, 124 Coronary, 122, 124, 125, 137 Coronary heart disease, 122, 125 Coronary Thrombosis, 125, 137 Corpus, 20, 125, 143 Corpus Luteum, 125, 143 Cortex, 119, 125, 128, 142, 144 Cortical, 8, 125, 142, 146, 148 Cortisol, 117, 125 Cranial, 4, 51, 125 Criterion, 54, 125 Crossing-over, 125, 144, 148 Curative, 125, 149 Cutaneous, 125, 135 Cytogenetics, 13, 14, 26, 35, 42, 125, 145 D Databases, Bibliographic, 95, 125 Degenerative, 125, 131 Denaturation, 125, 142 Density, 17, 40, 43, 76, 121, 125, 139, 147 Dentition, 4, 125 Diabetes Mellitus, 74, 125, 129, 130, 131 Diagnostic procedure, 86, 125 Diaphragm, 125, 142 Diastolic, 125, 132 Diencephalon, 126, 142, 149 Digestion, 120, 121, 126, 135, 148 Digestive system, 78, 126 Dilatation, 14, 15, 34, 118, 126 Dilation, 29, 126 Diploid, 118, 126, 137, 141, 150 Direct, iii, 89, 126, 144 Dissection, 29, 34, 126 Dorsal, 126, 142 Drive, ii, vi, 3, 4, 57, 76, 126, 134 Drug Interactions, 90, 126 Drug Tolerance, 126, 150 Dysgenesis, 4, 5, 56, 67, 73, 75, 83, 98, 126 Dysgerminoma, 23, 68, 126 Dyspareunia, 126, 128 Dysplasia, 43, 99, 126 Dystrophy, 98, 126

Index 155

E Elastin, 123, 126 Electrocardiogram, 75, 126 Electrons, 120, 126, 134, 144 Embryo, 127, 128, 133, 139, 143, 147 Embryo Transfer, 127, 143 Encephalocele, 127, 138 Endemic, 127, 131, 147 End-stage renal, 122, 127, 142 Energy balance, 127, 134 Environmental Exposure, 120, 127, 139 Environmental Health, 94, 96, 127 Enzymatic, 123, 127, 142 Enzyme, 117, 120, 127, 142, 143, 149, 151, 152 Epidemiologic Studies, 120, 127 Epithelial, 28, 127, 131 Epithelial Cells, 28, 127, 131 Erythrocytes, 118, 121, 127 Esophagus, 126, 127, 148 Essential Tremor, 98, 127 Estradiol, 40, 42, 62, 75, 114, 127 Estrogen, 6, 17, 19, 24, 28, 30, 31, 45, 54, 59, 60, 62, 73, 74, 76, 127 Estrogen Replacement Therapy, 24, 127 Eukaryotic Cells, 128, 132 Exogenous, 30, 128 F Facial, 4, 10, 63, 128 Family Planning, 95, 128 Fat, 50, 75, 76, 117, 121, 125, 128, 134, 135 Fathers, 13, 35, 128 Fatty acids, 117, 128 Femoral, 63, 128 Femur, 128 Fertilization in Vitro, 128, 143 Fetal Alcohol Syndrome, 80, 128 Fetal Development, 128, 138 Fetoprotein, 128 Fetus, 117, 128, 141, 143, 147, 151 Fibrosis, 99, 102, 128, 145 Fissure, 128, 142 Fluorescence, 28, 35, 37, 45, 128 Foetoplacental, 128, 139 Folate, 128 Folic Acid, 80, 128 Forearm, 43, 62, 76, 121, 129 Fossa, 20, 129 Frontal Lobe, 129, 142 Functional magnetic resonance imaging, 8, 13, 129

G Gallbladder, 120, 126, 129 Gastrin, 129, 131 Gelatin, 129, 149 Gene, 9, 10, 11, 13, 14, 32, 51, 81, 99, 100, 102, 120, 129, 132, 139, 146 Gene Dosage, 10, 129 Gene Expression, 9, 11, 99, 129 Genetic Counseling, 9, 75, 129 Genetic testing, 129, 142 Genotype, 23, 36, 74, 129, 141 Germ cell tumors, 126, 129 Germ Cells, 6, 126, 129, 136, 140, 147, 148 Gestation, 15, 129, 141, 147 Gland, 29, 117, 129, 135, 140, 143, 146, 147, 149 Glomeruli, 129 Glomerulosclerosis, 28, 129 Glomerulus, 129 Glucose, 22, 24, 59, 64, 75, 77, 98, 121, 122, 125, 129, 130, 133, 145 Glucose Intolerance, 125, 130 Glucose tolerance, 64, 75, 77, 130 Glucose Tolerance Test, 75, 77, 130 Glutamic Acid, 128, 130, 143 Gluten, 122, 130 Gonad, 126, 130 Gonadal, 4, 35, 56, 67, 73, 75, 83, 98, 130, 147 Governing Board, 130, 142 Grade, 7, 126, 130 Grasses, 128, 130 Gravis, 40, 130 Growth factors, 32, 77, 130 H Hearing Disorders, 123, 130 Heart attack, 122, 130 Hemochromatosis, 69, 130 Hemoglobin, 68, 118, 127, 130, 131, 149 Hemoglobinuria, 98, 131 Hemolytic, 131, 149 Hemorrhage, 131, 148 Hepatic, 117, 130, 131 Hepatitis, 68, 131 Hepatitis D, 68, 131 Hepatitis Delta Virus, 131 Hepatocytes, 131 Hereditary, 21, 74, 131, 145, 149 Heredity, 129, 131 Heterogeneity, 10, 131 Histology, 28, 131 Homeobox, 51, 131

156 Turner Syndrome

Homogeneous, 8, 131 Homologous, 6, 34, 125, 131, 146, 148 Hormonal, 119, 127, 131 Hormone Replacement Therapy, 76, 131 Hormone therapy, 4, 22, 23, 24, 25, 26, 29, 30, 31, 40, 42, 44, 59, 60, 61, 103, 131 Human growth hormone, 32, 39, 61, 62, 63, 64, 131 Hydrogen, 120, 121, 125, 132, 137, 139, 141, 143 Hydroxylysine, 123, 132 Hydroxyproline, 123, 132 Hyperhidrosis, 25, 132 Hypertension, 18, 34, 39, 122, 132, 149 Hypogonadism, 44, 69, 132 Hypoplasia, 4, 40, 132 Hypothyroidism, 12, 80, 132 I Id, 65, 69, 103, 104, 110, 112, 132 Idiopathic, 54, 132 Immune response, 119, 120, 132, 148, 151 Immunodeficiency, 98, 132 Impairment, 4, 26, 119, 132, 137 Implantation, 124, 132, 139 In situ, 28, 35, 37, 45, 132 In Situ Hybridization, 35, 37, 45, 132 In vitro, 127, 132, 142 In vivo, 11, 132 Indicative, 80, 132, 140, 151 Induction, 118, 133 Infarction, 125, 133, 137 Infection, 4, 120, 132, 133, 135, 136, 139, 148 Infertility, 8, 103, 133 Inflammation, 117, 123, 128, 131, 133, 140, 149 Inflammatory bowel disease, 52, 64, 133 Ingestion, 130, 133 Inguinal, 132, 133 Inner ear, 121, 133, 145 Insight, 9, 133 Insulin, 36, 43, 50, 130, 133 Insulin-dependent diabetes mellitus, 133 Interferon, 26, 133 Interferon-alpha, 26, 133 Intestinal, 122, 130, 133, 136 Intracellular, 133 Intravenous, 68, 133 Invasive, 68, 134, 136 Involuntary, 120, 127, 134, 138 Ions, 120, 132, 134 Ischemia, 119, 134

J Joint, 119, 134, 148 K Karyotype, 4, 19, 20, 22, 45, 82, 134 Kb, 94, 134 Kidney Disease, 78, 94, 99, 134 L Lactation, 134, 139 Language Development, 5, 134 Language Disorders, 123, 134 Large Intestine, 126, 134, 144, 146 Leptin, 29, 60, 134 Lesion, 134, 135 Lethal, 34, 134 Lethargy, 132, 134 Leukemia, 26, 98, 134 Leukocytes, 121, 133, 134 Libido, 118, 134 Library Services, 110, 134 Ligament, 134, 143 Limbic, 118, 135, 142 Limbic System, 118, 135, 142 Linkages, 10, 130, 135 Lip, 19, 135 Lipid, 17, 39, 59, 133, 135 Liver, 24, 39, 50, 77, 117, 120, 126, 128, 129, 130, 131, 135, 143, 145 Liver cancer, 117, 135 Liver scan, 135, 145 Lobe, 131, 135, 140 Localization, 37, 135 Localized, 132, 133, 135, 141 Longitudinal study, 7, 24, 59, 135 Lumen, 119, 135 Lupus, 43, 135 Lymph, 126, 135 Lymph node, 126, 135 Lymphatic, 40, 133, 135 Lymphedema, 5, 40, 135 Lymphocyte, 119, 136 Lymphoid, 118, 136 Lymphoma, 98, 136 M Magnetic Resonance Imaging, 8, 17, 75, 136, 145 Malabsorption, 98, 122, 136 Malformation, 4, 136 Malignancy, 126, 136 Malignant, 98, 126, 129, 135, 136, 138 Malignant tumor, 136, 138 Malnutrition, 117, 119, 136, 138 Medical Records, 136, 145

Index 157

MEDLINE, 95, 97, 99, 136 Megaloblastic, 128, 136 Meiosis, 6, 136 Melanocytes, 136 Melanoma, 98, 136 Membranes, 121, 136, 141, 142, 148 Memory, 7, 8, 22, 29, 54, 73, 75, 76, 136 Menopause, 136, 139, 142 Menstrual Cycle, 136, 139, 143 Menstruation, 113, 118, 136 Mental deficiency, 128, 137 Mental Disorders, 10, 78, 117, 137 Mental Health, iv, 5, 10, 78, 94, 96, 137 Mental Retardation, 11, 33, 44, 53, 100, 123, 137 MI, 21, 114, 137 Microbiology, 119, 120, 137 Microscopy, 11, 137 Microwaves, 137, 144 Milliliter, 121, 137 Mineralization, 17, 19, 59, 137 Mobility, 13, 137 Modification, 71, 137, 144 Molecular, 7, 9, 21, 41, 42, 51, 52, 61, 95, 97, 120, 124, 125, 137 Molecule, 119, 120, 123, 137, 144 Monitor, 6, 137 Monosomy, 9, 25, 27, 118, 137 Morphogenesis, 128, 137 Morphological, 6, 127, 136, 137 Morphology, 3, 4, 25, 137 Mosaicism, 12, 13, 20, 21, 26, 30, 33, 42, 47, 50, 52, 56, 68, 137 Motor Skills, 73, 138 Mucosa, 122, 135, 138 Multiple Myeloma, 13, 138 Muscle Fibers, 138 Muscular Atrophy, 98, 138 Muscular Dystrophies, 126, 138 Myasthenia, 40, 138 Mydriatic, 126, 138 Myocardium, 137, 138 Myotonic Dystrophy, 98, 138 N Narcolepsy, 37, 138 NCI, 1, 78, 93, 138 Necrosis, 133, 137, 138 Need, 3, 10, 75, 79, 81, 82, 105, 122, 138, 150 Neoplasia, 98, 138 Neoplasm, 126, 138 Neoplastic, 136, 138

Nephropathy, 134, 138 Nerve, 119, 138, 139, 145, 147, 149 Nervous System, 98, 117, 130, 138, 139, 148 Neural, 8, 80, 117, 127, 128, 138 Neural tube defects, 80, 128, 138 Neuroanatomy, 29, 135, 139 Neuropathy, 118, 139 Neutrons, 117, 139, 144 Nitrogen, 118, 139, 150 Nonverbal Communication, 123, 139 Nuclei, 117, 118, 126, 135, 136, 139, 143 Nucleic acid, 132, 139 Nucleus, 74, 120, 122, 128, 129, 136, 139, 142, 143, 148 O Oestrogen, 18, 24, 28, 36, 46, 48, 49, 60, 62, 63, 139 Oncogene, 98, 139 Opacity, 125, 139 Optic Disk, 139, 140 Oral Health, 5, 139 Osmotic, 117, 139 Osteoporosis, 46, 62, 64, 74, 76, 128, 139, 140 Otitis, 82, 140 Otitis Media, 82, 140 Outpatient, 76, 140 Ovaries, 4, 5, 6, 73, 74, 76, 140, 146 Ovary, 125, 127, 130, 139, 140 Ovulation, 12, 140 Ovum, 125, 129, 140, 143, 152 Oxandrolone, 24, 26, 28, 59, 60, 63, 74, 140 P Palate, 19, 140 Palliative, 139, 140, 149 Pancreas, 126, 130, 133, 140 Pancreatic, 98, 140 Pancreatic cancer, 98, 140 Papilledema, 47, 62, 140 Paralysis, 33, 140 Parietal, 140, 142 Paroxysmal, 98, 140 Particle, 140, 147 Patch, 76, 140, 150 Pathogenesis, 10, 11, 140 Pathologic, 120, 125, 140 Pathophysiology, 9, 10, 140 Patient Education, 47, 102, 108, 110, 114, 140 Pelvic, 47, 140, 143 Peptide, 134, 140, 142, 143, 149

158 Turner Syndrome

Perineal, 132, 140 Peripheral blood, 133, 141 Peritoneal, 119, 141 Peritoneal Cavity, 119, 141 PH, 15, 121, 141 Pharmacologic, 141, 150 Phenotype, 9, 15, 26, 42, 61, 74, 82, 120, 141 Phospholipids, 128, 141 Phosphorus, 141 Phosphorylation, 6, 141 Physical Examination, 75, 122, 141 Physiologic, 128, 136, 141, 144 Physiology, 49, 120, 141 Pigment, 120, 136, 141 Pitch, 141, 151 Placenta, 127, 128, 141, 143 Plants, 129, 137, 141, 145, 150 Plasma, 36, 40, 117, 118, 129, 130, 131, 138, 141, 146 Plasma cells, 118, 138, 141 Plasma protein, 117, 141 Pleura, 142 Pleural, 15, 142 Pleural cavity, 142 Pleural Effusion, 15, 142 Polycystic, 99, 142 Polymerase, 35, 142 Polymerase Chain Reaction, 35, 142 Polypeptide, 118, 123, 142, 149, 152 Polysaccharide, 119, 142 Posterior, 20, 118, 119, 126, 140, 142 Postmenopausal, 127, 140, 142 Postnatal, 128, 142 Practice Guidelines, 96, 103, 142 Prefrontal Cortex, 13, 142 Pregnancy Outcome, 27, 143 Prenatal, 15, 23, 50, 51, 71, 80, 127, 128, 143 Prevalence, 4, 9, 35, 36, 39, 143 Primary Biliary Cirrhosis, 52, 64, 143 Progesterone, 50, 76, 143, 147 Progressive, 4, 122, 126, 128, 130, 138, 143 Projection, 142, 143, 144 Prolapse, 41, 143 Proline, 123, 132, 143 Prospective study, 135, 143 Prostate, 98, 139, 143 Protease, 123, 143 Protein C, 6, 117, 118, 143 Protein S, 6, 81, 99, 120, 132, 143 Proteins, 118, 119, 122, 123, 137, 139, 140, 141, 143, 146, 149, 150

Proteinuria, 129, 138, 143 Protons, 117, 132, 143, 144 Psychiatric, 120, 123, 137, 144 Puberty, 6, 26, 38, 39, 51, 63, 73, 74, 104, 144 Public Policy, 95, 144 Pulmonary, 121, 144, 151 Pulmonary Artery, 121, 144, 151 Pulse, 137, 144 Pupil, 126, 138, 144 Q Quality of Life, 75, 77, 144 R Race, 134, 144 Radiation, 77, 127, 128, 144, 145, 151 Radio Waves, 77, 137, 144 Radioactive, 121, 132, 135, 144, 145 Radiology, 19, 46, 144 Randomized, 16, 18, 42, 45, 50, 58, 62, 63, 144 Reactivation, 10, 144 Receptor, 13, 119, 144 Recombinant, 32, 48, 61, 62, 63, 144 Recombination, 9, 144 Rectum, 121, 126, 133, 134, 143, 144 Red Nucleus, 119, 144 Refer, 1, 121, 123, 135, 139, 144 Regimen, 32, 144 Reproduction Techniques, 143, 145 Reproductive cells, 129, 145 Research Design, 7, 145 Respiration, 137, 145 Restoration, 144, 145 Retinoblastoma, 98, 145 Retrocochlear, 4, 145 Retrospective, 46, 47, 145 Retrospective study, 46, 47, 145 Risk factor, 18, 24, 103, 127, 143, 145 S Salivary, 126, 140, 145 Salivary glands, 126, 145 Saponins, 145, 147 Satellite, 34, 131, 145 Scans, 77, 145 Schizophrenia, 37, 145 Sclerosis, 98, 145 Scoliosis, 36, 145 Screening, 21, 35, 43, 49, 50, 80, 122, 146, 150 Secretion, 25, 35, 49, 61, 76, 132, 133, 134, 146 Sediment, 146, 151

Index 159

Segmental, 28, 129, 146 Segmentation, 146 Segregation, 6, 120, 144, 146 Seizures, 140, 146 Semen, 143, 146 Seminiferous tubule, 146, 147 Seminoma, 126, 146 Senile, 140, 146 Sequencing, 10, 142, 146 Serum, 29, 50, 60, 80, 114, 117, 123, 146 Sex Characteristics, 117, 118, 139, 144, 146, 148 Sex Determination, 99, 146 Shyness, 77, 146 Side effect, 89, 117, 120, 146, 150 Skeletal, 4, 8, 50, 51, 60, 63, 103, 118, 138, 146 Skeleton, 128, 134, 146 Skull, 121, 127, 138, 146, 148 Small intestine, 120, 131, 146 Social Environment, 144, 146 Soma, 147 Somatic, 3, 117, 135, 136, 142, 147 Somatic cells, 136, 147 Sound wave, 77, 124, 147 Specialist, 105, 126, 147 Species, 9, 134, 136, 144, 147, 148, 150 Spectrum, 137, 144, 147 Sperm, 118, 122, 129, 145, 146, 147 Spermatozoa, 13, 146, 147 Spina bifida, 138, 147 Spinal cord, 122, 138, 139, 147 Spontaneous Abortion, 6, 143, 147 Sporadic, 145, 147 Staging, 145, 147 Stanozolol, 32, 147 Sterility, 49, 133, 147 Steroid, 32, 36, 61, 74, 125, 139, 145, 147 Stillbirth, 143, 147 Stimulus, 126, 147, 149 Stomach, 126, 127, 129, 130, 131, 141, 146, 148 Strand, 6, 142, 148 Stroke, 75, 78, 94, 122, 148 Subacute, 133, 148 Subclinical, 133, 146, 148 Subspecies, 147, 148 Substance P, 146, 148 Supplementation, 67, 148 Symphysis, 143, 148 Synaptonemal Complex, 6, 148 Systemic, 90, 103, 119, 121, 133, 148

Systolic, 132, 148 T Telangiectasia, 99, 148 Telomere, 25, 148 Temporal, 25, 118, 130, 148 Temporal Lobe, 118, 148 Testis, 126, 127, 139, 148 Testosterone, 76, 148 Thalamic, 119, 148 Thalamic Diseases, 119, 148 Thalamus, 126, 135, 142, 148, 149 Thalassemia, 69, 149 Therapeutics, 90, 149 Thermal, 139, 142, 149 Thigh, 128, 149 Thorax, 117, 149 Threonine, 6, 149 Threshold, 132, 145, 149 Thrombin, 143, 149 Thrombomodulin, 143, 149 Thrombosis, 143, 148, 149 Thyroid, 34, 77, 103, 132, 149 Thyroid Gland, 149 Thyroiditis, 15, 40, 149 Thyrotropin, 132, 149 Thyroxine, 117, 149 Tinnitus, 140, 149 Tissue, 28, 33, 35, 75, 117, 119, 120, 121, 124, 126, 127, 128, 132, 134, 135, 136, 138, 141, 142, 145, 146, 147, 149 Tolerance, 22, 130, 149 Tomography, 150 Toxic, iv, 68, 127, 130, 139, 150 Toxicity, 126, 150 Toxicology, 96, 150 Toxins, 119, 133, 150 Trace element, 122, 150 Trachea, 149, 150 Transdermal, 40, 150 Transfection, 120, 150 Translocation, 54, 56, 150 Trauma, 63, 119, 120, 138, 148, 149, 150 Triad, 34, 150 Trisomy, 6, 19, 50, 118, 150 Tryptophan, 123, 150 Tuberculosis, 135, 150 Tuberous Sclerosis, 99, 150 U Ultrasonography, 12, 150 Unconscious, 132, 150 Urethra, 143, 150, 151 Urinalysis, 75, 150

160 Turner Syndrome

Urinary, 36, 120, 151 Urine, 75, 76, 77, 120, 121, 131, 143, 150, 151 Uterus, 125, 137, 140, 143, 151 V Vagina, 136, 151 Vaginal, 75, 151 Vascular, 133, 141, 149, 151 Vasomotor, 128, 151 Vein, 118, 133, 145, 151 Venous, 143, 151 Ventricle, 118, 119, 144, 148, 149, 151 Venules, 121, 151 Vertigo, 140, 151 Veterinary Medicine, 95, 151 Villous, 122, 151

Virus, 131, 133, 151 Viscera, 147, 151 Vitro, 151 Vivo, 151 Voice Disorders, 5, 151 W Windpipe, 149, 151 X X-ray, 75, 76, 77, 121, 124, 128, 144, 145, 151 Y Yeasts, 141, 151 Z Zygote, 124, 137, 152 Zymogen, 143, 152

Index 161

162 Turner Syndrome

Index 163

164 Turner Syndrome

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