NOONAN 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., 1960Noonan 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: 0-597-84530-1 1. Noonan 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.
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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 noonan 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 NOONAN SYNDROME ............................................................................... 3 Overview........................................................................................................................................ 3 Federally Funded Research on Noonan Syndrome ........................................................................ 3 The National Library of Medicine: PubMed .................................................................................. 8 CHAPTER 2. ALTERNATIVE MEDICINE AND NOONAN SYNDROME ............................................... 43 Overview...................................................................................................................................... 43 National Center for Complementary and Alternative Medicine.................................................. 43 Additional Web Resources ........................................................................................................... 44 General References ....................................................................................................................... 44 CHAPTER 3. PATENTS ON NOONAN SYNDROME ........................................................................... 45 Overview...................................................................................................................................... 45 Patent Applications on Noonan Syndrome.................................................................................. 45 Keeping Current .......................................................................................................................... 46 CHAPTER 4. BOOKS ON NOONAN SYNDROME ............................................................................... 47 Overview...................................................................................................................................... 47 Chapters on Noonan Syndrome ................................................................................................... 47 APPENDIX A. PHYSICIAN RESOURCES ............................................................................................ 51 Overview...................................................................................................................................... 51 NIH Guidelines............................................................................................................................ 51 NIH Databases............................................................................................................................. 53 Other Commercial Databases....................................................................................................... 55 The Genome Project and Noonan Syndrome ............................................................................... 55 APPENDIX B. PATIENT RESOURCES ................................................................................................. 59 Overview...................................................................................................................................... 59 Patient Guideline Sources............................................................................................................ 59 Finding Associations.................................................................................................................... 62 APPENDIX C. FINDING MEDICAL LIBRARIES .................................................................................. 65 Overview...................................................................................................................................... 65 Preparation................................................................................................................................... 65 Finding a Local Medical Library.................................................................................................. 65 Medical Libraries in the U.S. and Canada ................................................................................... 65 ONLINE GLOSSARIES.................................................................................................................. 71 Online Dictionary Directories ..................................................................................................... 72 NOONAN SYNDROME DICTIONARY .................................................................................... 73 INDEX .............................................................................................................................................. 101
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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 noonan 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 noonan 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 noonan 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 noonan 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 noonan 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 noonan 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 NOONAN SYNDROME Overview In this chapter, we will show you how to locate peer-reviewed references and studies on noonan syndrome.
Federally Funded Research on Noonan Syndrome The U.S. Government supports a variety of research studies relating to noonan 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 noonan 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 noonan syndrome. The following is typical of the type of information found when searching the CRISP database for noonan syndrome: •
Project Title: ANIMAL MODELS OF HYPERTROPHIC CARDIOMYOPATHY Principal Investigator & Institution: Robbins, Jeffrey; Professor and Director; Children's Hospital Med Ctr (Cincinnati) 3333 Burnet Ave Cincinnati, Oh 45229 Timing: Fiscal Year 2003; Project Start 01-AUG-1998; Project End 31-DEC-2003 Summary: (provided by applicant): The objective of this application is to mechanistically dissect the cardiac-autonomous pathologies, which include cardiomyocyte hypertrophy
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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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Noonan Syndrome
and valve disease, that occur in Noonan syndrome. Our immediate goals are to carry out comprehensive studies using inducible, cardiac-specific expression of both the normal and mutated forms of the tyrosine phosphatase, Shp-2 in the different cardiac cell populations. These studies will be complemented by an inducible, cardiac-specific gene ablation of ptpn11 in order to discern protein function at different developmental times. The following SPECIFIC AIMS are directed towards this goal: SPECIFIC AIM I will explore the cardiomyocyte autonomous effects of Shp-2 expression in order to dissect the primary and secondary effects on hypertrophy and valve dysfunction. Both wild type (WT) and mutated protein will be expressed only in the cardiomyocyte population in standard transgenics and in transgenics under inducible control. The hypothesis is that expression of the Noonan mutation Shp-2 Gln79Arg, will result in cardiomyocyte hypertrophy. A second hypothesis is that cardiac pathogenesis is due to a gain of function: that is, high levels of wild type Shp-2 will have the same phenotype as animals with modest expression of Shp-2 Gln79Arg. SPECIFIC AIM 2 will carry out the complementary studies in the relevant non-cardiomyocyte populations to define the role that the Shp-2 mutation plays during cardiac cushion formation and development of the outflow tract. Both the WT and mutated protein will be expressed during development in the endothelial population only. SPECIFIC AIM 3 will explore loss of function of the normal protein by carrying out an inducible, cardiomyocyte-specific knock-out using the MerCreMer system developed in our Division. We hypothesize that the effects of Shp-2 loss of function will differ radically depending upon the developmental time and in this manner the role of Shp-2 in controlling normal cellular processes in the heart can be explored. SPECIFIC AIM 4 will explore the signaling pathways downstream of Shp-2 in cardiomyocytes. We hypothesize that Shp-2 signals through activation of the MAP kinase (MAPK) pathway in cardiomyocytes and that ablation of Shp-2 will blunt MAPK signaling while over-expression of WTShp- 2 or Shp2 Gln79Arg will result in increased MAPK activity or inappropriate MAPK activity through the ERK branch in response to various stimuli. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen •
Project Title: DEVELOPMENT OF SHP-2 PHOPHATASE INHIBITORS Principal Investigator & Institution: Ottinger, Elizabeth A.; Chemistry; Swarthmore College Swarthmore, Pa 19081 Timing: Fiscal Year 2003; Project Start 01-JUL-2003; Project End 30-JUN-2006 Summary: (provided by applicant): In recent years, structural analysis of signaling proteins has led to important advances in understanding the regulation of cellular signal transduction pathways. However, it still remains a challenge to be able to combine protein structural and functional information to design small molecule ligands that can be used to study the biological roles of proteins. The overall goal of this research project is to develop small cyclic non-phosphorylated peptides that specifically inhibit protein tyrosine phosphatase, SHP-2, in order to probe the role of this enzyme in cellular signaling. SHP-2 is a widely expressed cytoplasmic tyrosine phosphatase involved in growth factor, cytokine, hormone, and immune signaling. In several studies, SHP-2 has been found to be a positive mediator of growth factor signal transduction, acting upstream of mitogen activated protein (MAP) kinase pathways, and effecting cellular developmental processes. It has recently been found that the genetic cause of the developmental disorder Noonan syndrome, characterized by dysmorphic facial features, short stature, heart disease, and skeletal malformations can be mapped to mutations in SHP-2. It is hypothesized that these mutations lead to increased SHP-2 phosphatase activity that would effect growth factor receptor signaling. The link
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between SHP-2 activity and the activation of cell growth also suggests that SHP-2 may be involved in tumorigenesis and therefore, a potential target for anti-cancer drugs. Cyclic peptide inhibitors of SHP-2 will be designed based on the existing crystal structure of the enzyme, which suggests an autoinhibitory mechanism by the Nterminal src-homology 2 (SH2) domain of the protein. Different synthetic cyclization strategies will be applied and combined with structural information obtained from proton nuclear magnetic resonance (1H-NMR) studies to develop constrained peptides with high inhibitory activity. Inhibitors with the highest potency and selectivity will then be delivered into cells and tested for their effect on the epidermal growth factor (EGF) receptor signaling pathway by determining the phosphorylation state of different proteins in the MAP kinase pathway upon stimulation of the cells with EGF. These studies will give new insights into the molecular details of SHP-2's mode of action, including its substrate(s), and the effects of its inhibition in cellular responses to growth factors. Understanding the regulation of SHP-2 can establish this protein as a target for the development of therapeutic drugs for cellular disorders. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen •
Project Title: MOLECULAR BASIS OF NOONAN SYNDROME AND RELATED DISORDERS Principal Investigator & Institution: Gelb, Bruce D.; Professor; Pediatrics; Mount Sinai School of Medicine of Nyu of New York University New York, Ny 10029 Timing: Fiscal Year 2002; Project Start 01-AUG-2002; Project End 31-JUL-2007 Summary: (provided by applicant): The applicant proposes to study Noonan syndrome (NS) and related disorders. NS is a relatively common autosomal dominant trait with features that include congenital heart disease (CHD), short stature, dysmorphism, and mental retardation. We recently showed that mutations in the PTPN1 1 gene cause NS. PTPN1 I encodes the protein tyrosine phosphatase, SHP-2, which has two src-homology 2 (SH2) domains. SHP-2 is known to play a critical role in receptor tyrosine kinasemediated signal transduction through MAP kinase. These new findings provide opportunities to understand the role of SHP-2 in CHD as well as to identify additional CHD genes.To test the hypothesis that all PTPN11 mutations causing NS are missense defects affecting residues at the interface of the N-SH2 and phosphatase domains, we will identify and characterize PTPN11 mutations in a large, well-characterized NS cohort. This will establish the range of molecular defects and may permit correlation of genotype with phenotype. To determine whether PTPN1 I mutations cause Noonan-like syndromes and sporadic CHD, cohorts with the latter will be screened as will those with cardiofaciocutaneous and Costello syndromes.To test the hypothesis that PTPN1 1 mutations cause NS by a gain-of-function mechanism, the function of mutant SHP-2 proteins will be tested in cell culture to document that they have increased phosphatase activity, interact with the SHP-2 docking partners, and excessively stimulate receptor tyrosine kinase signaling cascades.To test whether NS mutations perturb the FGFR and EGFR pathways during development through a gain-offunction, NS mutations will be studied in Drosophila and Xenopus. Mutant corkscrew (the SHP-2 orthologue) will be introduced in fly embryos with null or hypomorphic corkscrew alleles. Development of terminal structures (torso pathway), eyes (sevenless pathway), wings (EGFR pathway) and trachea (FGFR pathway) will be assessed. Mutant SHP-2 will be expressed in frog animal caps to assess FGF-mediated mesoderm induction.Since NS is genetically heterogeneous, there are additional NS disease genes. To identify them, we will use candidate gene and positional cloning strategies. For the former, we will focus on genes with biological roles relevant to signaling cascades in which SHP-2 participates. For the
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Noonan Syndrome
latter, a positional cloning/candidacy approach will be used with multiplex NS kindreds whose trait does not link to the PTPN1 I locus.These studies will delineate the molecular diversity of PTPN1 1 mutations underlying NS and related disorders as well as provide insights into the effects of SHP-2 mutants at the biochemical, cellular, and organismal levels. The results will inform future work directed at understanding the pathogenesis of NS and at developing novel therapeutic strategies, such as those ameliorating the progression of cardiac hypertrophy. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen •
Project Title: REQUIREMENTS FOR THE FGF/MAPK IN EARLY HEART DEVELOPMENT Principal Investigator & Institution: Conlon, Frank L.; Genetics; University of North Carolina Chapel Hill Aob 104 Airport Drive Cb#1350 Chapel Hill, Nc 27599 Timing: Fiscal Year 2004; Project Start 01-JAN-2004; Project End 30-NOV-2007 Summary: (provided by applicant): We are studying the molecular mechanisms that are involved in the induction and patterning of the early heart tube. To begin to identify the molecular pathways involved in heart development, we are studying the endogenous role of genes implicated in human congenital heart disease, the most common form of heart disease in childhood occurring in about 1% of live births and up to 10% of stillbirths. Despite the high incident of congenital heart disease only in a few instances has the genetic basis for any one type of disease been identified. Recently, it has been shown that patients with the Noonan syndrome often have mis-sense mutations in the Shp-2/SH-PTP2 gene. Shp-2/SH-PTP2 encodes for a nonreceptor phosphatase required for FGF/MAPK signaling. A second example is the Holt-Oram syndrome (HOS), a disease associated with mutations in the coding region of the transcription factor TBX5. Several of the clinical features of Noonan syndrome and HOS can overlap. For example, patients with either syndrome often display atrial septal defects suggesting that the two proteins may function in a similar pathway. Consistent with this hypothesis, we have shown a direct link between the FGF/MAPK signal transduction pathway and TBX5 transcriptional activity. We have also shown that TBX5 is post-translationally modified through phosphorylation, and that mutation of an evolutionarily conserved FGF/MAPK site results in alterations of TBX5 function. To test the hypothesis that FGF/MAPK/SH-PTP2 pathway is critical to Tbx5 activity and heart development in vivo, we plan to determine the cellular and molecular relationship between the FGF/MAPK/SH-PTP2 and Tbx5. The specific aims of this proposal are: to establish the molecular and cellular relationship between FGF/MAP kinase signaling pathway and Tbx5 in heart development, determine the role for SH-PTP2 with respect to TBX5 activity and early heart development, to identify and characterize the role of FGF/MAP/SH-PTP2 in TBX5 post-translational modifications. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen
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Project Title: SCCOR IN PEDIATRIC HEART DEVELOPMENT AND DISEASE Principal Investigator & Institution: Benson, D W.; Professor; Children's Hospital Med Ctr (Cincinnati) 3333 Burnet Ave Cincinnati, Oh 45229 Timing: Fiscal Year 2004; Project Start 15-FEB-2004; Project End 31-JAN-2009 Summary: (provided by applicant): The SCCOR will integrate genetic studies of valvular heart disease in human patients with mechanistic studies of valve development and maldevelopment in model systems. The proposal consists of 4 Projects and 2 Cores. Project 1: Genetic studies of valvular heart disease will use a multipoint variance-
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component linkage analysis to identify chromosomal regions linked to bicuspid aortic valve (BAV). Positional cloning of the gene causing canine tricuspid valve malformation (an analog of Ebstein anomaly) on canine chromosome 9 will lead directly to mutation analysis of the human homolog in probands with Ebstein anomaly. Project 2: The pathogenesis of PTPN11 mutations in human disease will expand the genotypephenotype relations of PTPN11 mutations in cardiac patients with and without Noonan syndrome (NS). Additional human studies will be directed at identifying additional NS genes, and determining the effect of PTPN11 mutations on SHP-2 phosphatase activity in fibroblasts of NS patients. A knock-in of a PTPN11 mutant allele, Asn72Ser, will be performed in the mouse as a means to develop a model of NS. Project 3: Regulation of valvuloseptal development by DSCR1. The extent to which DSCR1 regulation by calcineurin/NFAT activation controls endocardial cushion remodeling and valvuloseptal development will be evaluated in mice trisomic for the DSCR1 locus and in cultured AV canal explants. These studies will provide genetic and molecular evidence for the role of DSCR1 in normal and abnormal valvuloseptal development. Project 4: Mechanisms of cardiac pathogenesis in Noonan syndrome will utilize mechanistic studies of SHP-2 mutations to define the pathogenic processes that underlie development of cardiovascular disease in humans with SHP-2 mutations. Comprehensive in vivo murine studies using inducible, cardiomyocyte- and endothelial-based expression of both normal and mutant SHP-2 will be utilized to achieve this goal. The Administrative Core (A) will serve as the organizational focus. The Phenotype - DNA Database Core (B) will develop and maintain an integrated central repository for information regarding probands with specific cardiac phenotypes that have been selected for their relationship to valvular heart disease. These reagents will facilitate hypothesis testing of novel candidate genes and genotype-phenotype correlations and thereby be a valuable resource for all Projects. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen •
Project Title: SIGNAL TRANSDUCTION BY NON-TRANSMEMBRANE PTPS Principal Investigator & Institution: Neel, Benjamin G.; Professor and Director; Beth Israel Deaconess Medical Center St 1005 Boston, Ma 02215 Timing: Fiscal Year 2004; Project Start 01-DEC-1988; Project End 31-JAN-2009 Summary: (provided by applicant): Many important biological processes are regulated by protein tyrosyl phosphorylation. Tyrosyl phosphorylation, in turn, is controlled by protein-tyrosine kinases (PTKs) and protein-tyrosine phosphatascs (PTPs). Abnormal regulation of these pathways can lead to developmental defects and diseases such as cancer. A complete understanding of cellular regulation by tyrosyl phosphorylation requires defining the PTKs and PTPs involved and determining how they interact. Such understanding may lead to the development of" new drugs that selectively target elements of these signaling pathways, agents that may be useful for the treatment of human disease. The goal of this research program is to further define the biological function and mechanism of action of the SH2 domain-containing PTP, Shp2. Shp2 is required lbr normal vertebrate development, and is an essential positive (i.e., signalenhancing) component of multiple important signaling pathways, including those regulated by growth factors and extracellular matrix. Recent work indicates that autosomal dominant mutations of Shp2 are the cause of the human genetic disease Noonan syndrome (NS), and may play a role in the genesis of certain myeloid leukemias. In work during this funding period, we determined the phenotype of Shp2 protein-null embryos, generated the first dominant activating mutations of Shp2 and assessed their effects on early Xenopus development, showed that tyrosyl
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phosphorylation is critical for Shp2 function in some, but not all, growth factor signaling pathways, and found that Src is a key target fbr Shp2 regulation, most likely because Shp2 directly dephosphorylates the Csk regulator, Pag/Cbp. Nevertheless, several key questions about Shp2 function and mechanism of action remain, and are the topic of this continuation application. We will directly assess the biochemical properties of known NS mutations, determine whether somatic activating mutations of Shp2 occur in human lung and breast carcinomas, and analyze the effects of NS mutations in the mouse. We will clarify, the mechanism by which tyrosyl phosphorylation of Shp2 affects receptor tyrosine kinase signaling. The detailed mechanism by which Shp2 regulates Src activity via Pag/Cbp, and whether other Src family kinases are regulated similarly will be determined. Finally, we will determine how/whether defective Src activation contributes to the phenotype of Shp2-deficient cells, specifically, defective Ras/Erk activation and enhanced Rho activity. The results of our studies should yield new insights into the regulation of tyrosyl phosphorylation and the mechanism by which Shp2 mutations cause NS, and may reveal Shp2 to be a novel target for therapeutic intervention in human cancer. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen
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 noonan syndrome, simply go to the PubMed Web site at http://www.ncbi.nlm.nih.gov/pubmed. Type “noonan syndrome” (or synonyms) into the search box, and click “Go.” The following is the type of output you can expect from PubMed for noonan syndrome (hyperlinks lead to article summaries): •
A case of Noonan syndrome with cortical dysplasia. Author(s): Saito Y, Sasaki M, Hanaoka S, Sugai K, Hashimoto T. Source: Pediatric Neurology. 1997 October; 17(3): 266-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9390707
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A case of Noonan syndrome with pulmonary and abdominal lymphangiectasia. Author(s): Ozturk S, Cefle K, Palanduz S, Erten NB, Karan MA, Tascioglu C, Umman S, Falay O, Vatansever S, Guler K, Cantez S. Source: Int J Clin Pract. 2000 May; 54(4): 274-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10912323
3 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 child with Noonan syndrome. Author(s): Hopkins-Acos P, Bunker K. Source: J Speech Hear Disord. 1979 November; 44(4): 494-503. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=513672
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A clinical study of Noonan syndrome. Author(s): Sharland M, Burch M, McKenna WM, Paton MA. Source: Archives of Disease in Childhood. 1992 February; 67(2): 178-83. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1543375
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A comprehensive scoring system for evaluating Noonan syndrome. Author(s): Duncan WJ, Fowler RS, Farkas LG, Ross RB, Wright AW, Bloom KR, Huot DJ, Sondheimer HM, Rowe RD. Source: American Journal of Medical Genetics. 1981; 10(1): 37-50. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7294061
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Abdominal ultrasound in Noonan syndrome: a study of 44 patients. Author(s): George CD, Patton MA, el Sawi M, Sharland M, Adam EJ. Source: Pediatric Radiology. 1993; 23(4): 316-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8414765
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Absence of linkage of Noonan syndrome to the neurofibromatosis type 1 locus. Author(s): Sharland M, Taylor R, Patton MA, Jeffery S. Source: Journal of Medical Genetics. 1992 March; 29(3): 188-90. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1348095
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Acute lymphoblastic leukemia in Noonan syndrome: report of two cases. Author(s): Piombo M, Rosanda C, Pasino M, Marasini M, Cerruti P, Comelli A. Source: Medical and Pediatric Oncology. 1993; 21(6): 454-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8515728
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Acute rheumatic fever in Noonan syndrome. Author(s): Tramboo NA, Iqbal K, Malik AR, Naikoo BA, Dar MA. Source: Indian J Pediatr. 2000 August; 67(8): 605-7. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10985006
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An evaluation of the possible association of malignant hyperpyrexia with the Noonan syndrome using serum creatine phosphokinase levels. Author(s): Hunter A, Pinsky L. Source: The Journal of Pediatrics. 1975 March; 86(3): 412-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1113229
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Aortic regurgitation and pigmentation - unusual features of Noonan syndrome. Author(s): Bamrah VS, Ajlouni K, Squires WH, Hughes CV, Rosenfeld PS, Tristani FE. Source: The American Journal of the Medical Sciences. 1976 March-April; 271(2): 211-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1266891
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Are cardio-facio-cutaneous syndrome and Noonan syndrome distinct? A case of CFC offspring of a mother with Noonan syndrome. Author(s): Leichtman LG. Source: Clinical Dysmorphology. 1996 January; 5(1): 61-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8867661
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Are Noonan syndrome and Noonan-like/multiple giant cell lesion syndrome distinct entities? Author(s): Bertola DR, Kim CA, Pereira AC, Mota GF, Krieger JE, Vieira IC, Valente M, Loreto MR, Magalhaes RP, Gonzalez CH. Source: American Journal of Medical Genetics. 2001 January 22; 98(3): 230-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11169560
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Asymmetric septal hypertrophy and propranolol treatment in a case of UllrichNoonan syndrome. Author(s): Jackson G, Anand IS, Oram S. Source: British Heart Journal. 1979 November; 42(5): 611-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=518788
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Audiologic manifestations of Noonan syndrome. Author(s): Qiu WW, Yin SS, Stucker FJ. Source: Otolaryngology and Head and Neck Surgery. 1998 March; 118(3 Pt 1): 319-23. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9527110
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Autistic behaviors in a boy with Noonan syndrome. Author(s): Paul R, Cohen DJ, Volkmar FR. Source: Journal of Autism and Developmental Disorders. 1983 December; 13(4): 433-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=6662846
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Autistic disorder in Noonan syndrome. Author(s): Ghaziuddin M, Bolyard B, Alessi N. Source: Journal of Intellectual Disability Research : Jidr. 1994 February; 38 ( Pt 1): 67-72. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8173225
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Bilateral congenital chylothorax with Noonan syndrome. Author(s): Prasad R, Singh K, Singh R. Source: Indian Pediatrics. 2002 October; 39(10): 975-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12428048
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Bilateral coronary artery dilatation in a child with Noonan syndrome. Author(s): Nomura Y, Yanagi S, Kono Y, Kamimura J, Nishi J, Yoshinaga M, Miyata K. Source: Japanese Circulation Journal. 2000 June; 64(6): 481-3. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10875744
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Biventricular hypertrophic cardiomyopathy with right ventricular outflow tract obstruction associated with Noonan syndrome in an adult. Author(s): Hayashi S, Tojyo K, Uchikawa S, Momose T, Misawa T, Yazaki Y, Kinoshita O, Hongo M, Kubo K, Imamura H. Source: Japanese Circulation Journal. 2001 February; 65(2): 132-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11216824
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Bleeding diathesis in Noonan syndrome: a common association. Author(s): Witt DR, McGillivray BC, Allanson JE, Hughes HE, Hathaway WE, Zipursky A, Hall JG. Source: American Journal of Medical Genetics. 1988 October; 31(2): 305-17. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3232698
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Bleeding disorders in Noonan syndrome: three case reports and review of the literature. Author(s): Singer ST, Hurst D, Addiego JE Jr. Source: Journal of Pediatric Hematology/Oncology : Official Journal of the American Society of Pediatric Hematology/Oncology. 1997 March-April; 19(2): 130-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9149742
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Cardiologic abnormalities in Noonan syndrome: phenotypic diagnosis and echocardiographic assessment of 118 patients. Author(s): Burch M, Sharland M, Shinebourne E, Smith G, Patton M, McKenna W. Source: Journal of the American College of Cardiology. 1993 October; 22(4): 1189-92. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8409059
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Cardiopathy and ocular abnormalities in Noonan syndrome. Author(s): Ram SP, Krishna TN. Source: Singapore Med J. 1994 August; 35(4): 397-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7899901
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Cardiopulmonary rehabilitation in a patient with Noonan syndrome. Author(s): Callahan MP, Pham T, Rashbaum I, Pineda H, Greenspan N. Source: Archives of Physical Medicine and Rehabilitation. 2000 February; 81(2): 230-2. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10668781
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Cardiovascular abnormalities in Noonan syndrome: the clinical findings and treatments. Author(s): Ishizawa A, Oho S, Dodo H, Katori T, Homma SI. Source: Acta Paediatr Jpn. 1996 February; 38(1): 84-90. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8992869
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Cerebral infarction in Noonan syndrome. Author(s): Robertson S, Tsang B, Aftimos S. Source: American Journal of Medical Genetics. 1997 July 11; 71(1): 111-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9215779
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Cerebral occlusive artery disease in Noonan syndrome. Author(s): Wilms H, Neubauer B, Deuschl G, Zunker P. Source: Cerebrovascular Diseases (Basel, Switzerland). 2002; 14(2): 133-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12187019
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Charcot-Marie-Tooth disease and Noonan syndrome with giant proximal nerve hypertrophy. Author(s): Silburn PA, Nicholson GA, Teh BT, Blair IP, Pollard JD, Nolan PJ, Larsson C, Boyle RS. Source: Neurology. 1998 April; 50(4): 1067-73. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9566396
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Cherubism in a patient with Noonan syndrome: report of a case. Author(s): Levine B, Skope L, Parker R. Source: Journal of Oral and Maxillofacial Surgery : Official Journal of the American Association of Oral and Maxillofacial Surgeons. 1991 September; 49(9): 1014-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1886012
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Chromosomal localization, genomic characterization, and mapping to the Noonan syndrome critical region of the human Deltex (DTX1) gene. Author(s): Lee L, Dowhanick-Morrissette J, Katz A, Jukofsky L, Krantz ID. Source: Human Genetics. 2000 December; 107(6): 577-81. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11153911
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Classical Noonan syndrome is not associated with deletions of 22q11. Author(s): Robin NH, Sellinger B, McDonald-McGinn D, Zackai EH, Emanuel BS, Driscoll DA. Source: American Journal of Medical Genetics. 1995 March 13; 56(1): 94-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7747795
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Clinical and familial studies in the Noonan syndrome. Author(s): Penchaszadeh VB, Coco R, Farias R, Bergada C. Source: Birth Defects Orig Artic Ser. 1974; 10(10): 158-64. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4376701
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Clinical and molecular studies in a large Dutch family with Noonan syndrome. Author(s): van der Burgt I, Berends E, Lommen E, van Beersum S, Hamel B, Mariman E. Source: American Journal of Medical Genetics. 1994 November 1; 53(2): 187-91. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7856646
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Clinical confusion of the Noonan syndrome with the Borjeson-Forssman-Lehmann syndrome. Author(s): Preus M. Source: J Ment Defic Res. 1984 September; 28 ( Pt 3): 235-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=6492141
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Clinical variability of type 1 neurofibromatosis: is there a neurofibromatosis-Noonan syndrome? Author(s): Stern HJ, Saal HM, Lee JS, Fain PR, Goldgar DE, Rosenbaum KN, Barker DF. Source: Journal of Medical Genetics. 1992 March; 29(3): 184-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1348094
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Combined catheter-based pulmonary valvuloplasty and atrial septal defect closure in Noonan syndrome. A case report and literature review. Author(s): Zanchetta M, Colonna S, Rigatelli G, Pedon L, Zennaro M, Onorato E, Maiolino P. Source: Minerva Cardioangiol. 2002 August; 50(4): 383-8. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12147971
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Complications following airway surgery in Noonan syndrome. Author(s): Yellon RF. Source: Archives of Otolaryngology--Head & Neck Surgery. 1997 December; 123(12): 1341-3. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9413365
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Congenital heart diseases in children with Noonan syndrome: An expanded cardiac spectrum with high prevalence of atrioventricular canal. Author(s): Marino B, Digilio MC, Toscano A, Giannotti A, Dallapiccola B. Source: The Journal of Pediatrics. 1999 December; 135(6): 703-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10586172
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Constrictive pericarditis simulating intestinal lymphangiectasia in a patient with the Noonan syndrome. Author(s): O'Sullivan T, Hally M, Cronin CC, Bashyam M, Mitchell TH. Source: Ir J Med Sci. 1993 May; 162(5): 180-1. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8335455
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Cutaneous lymphangioma and amegakaryocytic thrombocytopenia in Noonan syndrome. Author(s): Evans DG, Lonsdale RN, Patton MA. Source: Clinical Genetics. 1991 March; 39(3): 228-32. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2036745
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Cutaneous oozing of lymphatic fluid after interventional cardiac catheterization in a patient with Noonan syndrome. Author(s): Tsang HY, Cheung YF, Leung MP, Chau KT. Source: Catheterization and Cardiovascular Interventions : Official Journal of the Society for Cardiac Angiography & Interventions. 2000 December; 51(4): 441-3. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11108676
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Defective growth hormone (GH) secretion and short-term treatment in Noonan syndrome. Author(s): Soliman AT, Rajab A, el Zalabany M, alSalmi I, Fattah MA. Source: Indian J Pediatr. 1998 September-October; 65(5): 741-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10773931
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Delineation of multiple cardiac anomalies associated with the Noonan syndrome in an adult and review of the literature. Author(s): Caralis DG, Char F, Graber JD, Voigt GC. Source: Johns Hopkins Med J. 1974 June; 134(6): 346-55. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4427400
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Detailed mapping, mutation analysis, and intragenic polymorphism identification in candidate Noonan syndrome genes MYL2, DCN, EPS8, and RPL6. Author(s): Ion A, Crosby AH, Kremer H, Kenmochi N, Van Reen M, Fenske C, Van Der Burgt I, Brunner HG, Montgomery K, Kucherlapati RS, Patton MA, Page C, Mariman E, Jeffery S. Source: Journal of Medical Genetics. 2000 November; 37(11): 884-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11185075
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Developmental and behavioural phenotype in Noonan syndrome? Author(s): Sarimski K. Source: Genet Couns. 2000; 11(4): 383-90. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11140417
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Different mutations in the NF1 gene are associated with Neurofibromatosis-Noonan syndrome (NFNS). Author(s): Baralle D, Mattocks C, Kalidas K, Elmslie F, Whittaker J, Lees M, Ragge N, Patton MA, Winter RM, ffrench-Constant C. Source: American Journal of Medical Genetics. 2003 May 15; 119A(1): 1-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12707950
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Dizygosity of discordant twins with Noonan syndrome. Author(s): Lai KN, Lam KC, Lawton JW. Source: Clinical Genetics. 1979 June; 15(6): 509-12. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=572748
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Echocardiographic studies of left ventricular disease in Ullrich-Noonan syndrome. Author(s): Nora JJ, Lortscher RH, Spangler RD. Source: Am J Dis Child. 1975 December; 129(12): 1417-20. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=128288
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Editorial: Noonan syndrome--certitude replaces conjecture. Author(s): Saenger P. Source: The Journal of Clinical Endocrinology and Metabolism. 2002 August; 87(8): 3527-8. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12161468
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Etiopathogenic analysis of the caries on three patients with Noonan Syndrome. Author(s): Barberia Leache E, Saavedra Ontiveros D, Maroto Edo M. Source: Medicina Oral : Organo Oficial De La Sociedad Espanola De Medicina Oral Y De La Academia Iberoamericana De Patologia Y Medicina Bucal. 2003 March-April; 8(2): 136-42. English, Spanish. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12618674
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Evidence that the “neurofibromatosis-Noonan syndrome” is a variant of von Recklinghausen neurofibromatosis. Author(s): Meinecke P. Source: American Journal of Medical Genetics. 1987 March; 26(3): 741-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3105316
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Exclusion of 22q11 deletion in Noonan syndrome with tetralogy of Fallot. Author(s): Digilio MC, Marino B, Giannotti A, Dallapiccola B. Source: American Journal of Medical Genetics. 1996 April 24; 62(4): 413-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8723074
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Exclusion of allelism of Noonan syndrome and neurofibromatosis-type 1 in a large family with Noonan syndrome-neurofibromatosis association. Author(s): Bahuau M, Flintoff W, Assouline B, Lyonnet S, Le Merrer M, Prieur M, Guilloud-Bataille M, Feingold N, Munnich A, Vidaud M, Vidaud D. Source: American Journal of Medical Genetics. 1996 December 18; 66(3): 347-55. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8985499
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Familial Noonan syndrome. Author(s): Kasturi L, Kulkarni AV, Mashankar VA, Desai UA. Source: Indian Pediatrics. 1995 March; 32(3): 362-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8613296
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Familial occurrence of Noonan syndrome. Author(s): Qazi QH, Arnon RG, Paydar MH, Mapa HC. Source: Am J Dis Child. 1974 May; 127(5): 696-8. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4151095
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Further delineation of the critical region for noonan syndrome on the long arm of chromosome 12. Author(s): Brady AF, Jamieson CR, van der Burgt I, Crosby A, van Reen M, Kremer H, Mariman E, Patton MA, Jeffery S. Source: European Journal of Human Genetics : Ejhg. 1997 September-October; 5(5): 3367. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9412792
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Genetic counselling in Noonan syndrome. Author(s): Sharland M, Morgan M, Smith G, Burch M, Patton MA. Source: American Journal of Medical Genetics. 1993 February 15; 45(4): 437-40. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8465845
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Genetic heterogeneity in Noonan syndrome: evidence for an autosomal recessive form. Author(s): van Der Burgt I, Brunner H. Source: American Journal of Medical Genetics. 2000 September 4; 94(1): 46-51. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10982482
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Genital tract function in men with Noonan syndrome. Author(s): Elsawi MM, Pryor JP, Klufio G, Barnes C, Patton MA. Source: Journal of Medical Genetics. 1994 June; 31(6): 468-70. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7915331
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Giant right atrial thrombus in Noonan syndrome combined with Eisenmenger's complex. Author(s): Tatsukawa H, Okajima Y, Furukawa K, Katsume H, Miyao K, Nakagawa M. Source: Chest. 1989 April; 95(4): 930-2. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2924632
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Growth curves for height in Noonan syndrome. Author(s): Witt DR, Keena BA, Hall JG, Allanson JE. Source: Clinical Genetics. 1986 September; 30(3): 150-3. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3780030
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Growth hormone (GH) secretion in children with Noonan syndrome: frequently abnormal without consequences for growth or response to GH treatment. Author(s): Noordam C, van der Burgt I, Sweep CG, Delemarre-van de Waal HA, Sengers RC, Otten BJ. Source: Clinical Endocrinology. 2001 January; 54(1): 53-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11167926
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Growth hormone therapy in noonan syndrome. Author(s): Kelnar CJ. Source: Hormone Research. 2000; 53 Suppl 1: 77-81. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10895047
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Growth hormone therapy in Noonan syndrome. Author(s): Cianfarani S. Source: The Journal of Pediatrics. 1999 March; 134(3): 385-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10064687
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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/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9343272
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Growth hormone treatment in Noonan syndrome. Author(s): Tanaka T. Source: Acta Paediatr Jpn. 1996 February; 38(1): 99-101. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8992871
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Growth hormone treatment in Noonan syndrome: report of four cases who reached final height. Author(s): Municchi G, Pasquino AM, Pucarelli I, Cianfarani S, Passeri F. Source: Hormone Research. 1995; 44(4): 164-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8522277
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Growth hormone treatment in Noonan syndrome: the National Cooperative Growth Study experience. Author(s): Romano AA, Blethen SL, Dana K, Noto RA. Source: The Journal of Pediatrics. 1996 May; 128(5 Pt 2): S18-21. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8627463
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Hearing loss in Noonan syndrome. Author(s): Cremers CW, van der Burgt CJ. Source: International Journal of Pediatric Otorhinolaryngology. 1992 January; 23(1): 81-4. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1592554
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Hematological findings in Noonan syndrome. Author(s): Bertola DR, Carneiro JD, D'Amico EA, Kim CA, Albano LM, Sugayama SM, Gonzalez CH. Source: Revista Do Hospital Das Clinicas. 2003 January-February; 58(1): 5-8. Epub 2003 April 30. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12754583
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Hypertrophic cardiomyopathy in Noonan syndrome. Author(s): Nishikawa T, Ishiyama S, Shimojo T, Takeda K, Kasajima T, Momma K. Source: Acta Paediatr Jpn. 1996 February; 38(1): 91-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8992870
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Hypertrophic obstructive cardiomyopathy as a manifestation of a cardiocutaneous syndrome (Noonan syndrome). Author(s): Pongratz G, Friedrich M, Unverdorben M, Kunkel B, Bachmann K. Source: Klin Wochenschr. 1991 December 11; 69(20): 932-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1795500
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Iris coloboma, ptosis, hypertelorism, and mental retardation: Baraitser-Winter syndrome or Noonan syndrome? Author(s): Verloes A. Source: Journal of Medical Genetics. 1993 May; 30(5): 425-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8320709
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Juvenile myelomonocytic leukemia and Noonan syndrome. Author(s): Choong K, Freedman MH, Chitayat D, Kelly EN, Taylor G, Zipursky A. Source: Journal of Pediatric Hematology/Oncology : Official Journal of the American Society of Pediatric Hematology/Oncology. 1999 November-December; 21(6): 523-7. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10598665
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Keratosis pilaris atrophicans faciei (ulerythema ophryogenes): a cutaneous marker in the Noonan syndrome. Author(s): Pierini DO, Pierini AM. Source: The British Journal of Dermatology. 1979 April; 100(4): 409-16. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=454568
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Laser treatment of recurrent vulvar angiokeratoma associated with Noonan syndrome. Author(s): Meyer WR, Dotters DJ. Source: Obstetrics and Gynecology. 1996 May; 87(5 Pt 2): 863-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8677117
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Letter: Hearing loss in Noonan syndrome. Author(s): Cremers C. Source: The Journal of Pediatrics. 1976 February; 88(2): 363. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1249708
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Letter: Noonan syndrome and fetal alcohol syndrome. Author(s): Bianchine JW, Taylor BD. Source: Lancet. 1974 May 11; 1(7863): 933. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4133456
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Letter: The Ullrich-Noonan syndrome. Author(s): Allen HD, Larter WE, Goldberg SJ. Source: Am J Dis Child. 1974 July; 128(1): 115-6. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4834995
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Lymphatic abnormalities in Noonan syndrome: A case report. Author(s): Smith S, Schulman A, Weir EK, Beatty DW, Joffe HS. Source: South African Medical Journal. Suid-Afrikaanse Tydskrif Vir Geneeskunde. 1979 August 18; 56(7): 271-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=550483
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Lymphedema in Noonan syndrome: clues to pathogenesis and prenatal diagnosis and review of the literature. Author(s): Witt DR, Hoyme HE, Zonana J, Manchester DK, Fryns JP, Stevenson JG, Curry CJ, Hall JG. Source: American Journal of Medical Genetics. 1987 August; 27(4): 841-56. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3321992
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Mapping a gene for Noonan syndrome to the long arm of chromosome 12. Author(s): Jamieson CR, van der Burgt I, Brady AF, van Reen M, Elsawi MM, Hol F, Jeffery S, Patton MA, Mariman E. Source: Nature Genetics. 1994 December; 8(4): 357-60. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7894486
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Metacarpophalangeal pattern profile analysis in Noonan syndrome. Author(s): Butler MG, Kumar R, Davis MF, Gale DD, Dahir GA, Meaney FJ. Source: American Journal of Medical Genetics. 2000 May 15; 92(2): 128-31. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10797437
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Midtrimester prenatal diagnosis of short-limb dwarfism (Saldino-Noonan syndrome). Author(s): Johnson VP, Petersen LP, Holzwarth DR, Messner FD. Source: Birth Defects Orig Artic Ser. 1982; 18(3 Pt A): 133-41. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7126786
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Multiple odontogenic keratocysts in a case of the Noonan syndrome. Author(s): Connor JM, Evans DA, Goose DH. Source: Br J Oral Surg. 1982 September; 20(3): 213-6. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=6958319
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Multiple subcutaneous granular-cell tumours in a patient with Noonan syndrome. Author(s): Lohmann DR, Gillessen-Kaesbach G. Source: Clinical Dysmorphology. 2000 October; 9(4): 301-2. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11045593
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Multiple temporal bone anomalies associated with Noonan syndrome. Author(s): Naficy S, Shepard NT, Telian SA. Source: Otolaryngology and Head and Neck Surgery. 1997 February; 116(2): 265-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9051078
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Multiple-marker screen positive results in Noonan syndrome. Author(s): Aranguren G, Garcia-Minaur S, Loridan L, Uribarren A, Martin Vargas L, Rodriguez-Soriano J. Source: Prenatal Diagnosis. 1996 February; 16(2): 183-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8650132
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Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. Author(s): Tartaglia M, Mehler EL, Goldberg R, Zampino G, Brunner HG, Kremer H, van der Burgt I, Crosby AH, Ion A, Jeffery S, Kalidas K, Patton MA, Kucherlapati RS, Gelb BD. Source: Nature Genetics. 2001 December; 29(4): 465-8. Erratum In: Nat Genet 2001 Dec; 29(4): 491. Nat Genet 2002 January; 30(1): 123. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11704759
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Myeloid disorders in infants with Noonan syndrome and a resident's “rule” recalled. Author(s): Side LE, Shannon KM. Source: The Journal of Pediatrics. 1997 June; 130(6): 857-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9202604
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Myocardial disarray in Noonan syndrome. Author(s): Burch M, Mann JM, Sharland M, Shinebourne EA, Patton MA, McKenna WJ. Source: British Heart Journal. 1992 December; 68(6): 586-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1467053
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Neonatal Noonan syndrome with a molluscoid cutaneous excess over the scalp. Author(s): Lacombe D, Taieb A, Masson P, Fayon M, Demarquez JL. Source: Genet Couns. 1991; 2(4): 249-53. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1799426
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Neurofibromatosis with fully expressed Noonan syndrome. Author(s): Abuelo DN, Meryash DL. Source: American Journal of Medical Genetics. 1988 April; 29(4): 937-41. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3135755
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Neurofibromatosis-Noonan syndrome and acute lymphoblastic leukemia: a report of two cases. Author(s): Klopfenstein KJ, Sommer A, Ruymann FB. Source: Journal of Pediatric Hematology/Oncology : Official Journal of the American Society of Pediatric Hematology/Oncology. 1999 March-April; 21(2): 158-60. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10206464
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Neurofibromatosis-Noonan syndrome or LEOPARD Syndrome? A clinical dilemma. Author(s): Tullu MS, Muranjan MN, Kantharia VC, Parmar RC, Sahu DR, Bavdekar SB, Bharucha BA. Source: Journal of Postgraduate Medicine. 2000 April-June; 46(2): 98-100. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11013475
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Neurofibromatosis-Noonan syndrome. Author(s): Carey JC. Source: American Journal of Medical Genetics. 1998 January 23; 75(3): 263-4. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9475594
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Neurofibromatosis-Noonan syndrome. Author(s): Buehning L, Curry CJ. Source: Pediatric Dermatology. 1995 September; 12(3): 267-71. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7501563
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Neurologic manifestations of the Noonan syndrome. Author(s): Duenas DA, Preissig S, Summitt RL, Wilroy RS, Lemmi H, Dews JE. Source: Southern Medical Journal. 1973 February; 66(2): 193-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4687589
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Neuropsychological developmental change in a case with Noonan syndrome: longitudinal assessment. Author(s): Horiguchi T, Takeshita K. Source: Brain & Development. 2003 June; 25(4): 291-3. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12767464
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No evidence for linkage to the type 1 or type 2 neurofibromatosis loci in Noonan syndrome families. Author(s): Flintoff WF, Bahuau M, Lyonnet S, Gilgenkrantz S, Lacombe D, Marcon F, Levilliers J, Kachaner J, Munnich A, Le Merrer M. Source: American Journal of Medical Genetics. 1993 July 1; 46(6): 700-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8362913
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No mutation in the gene for Noonan syndrome, PTPN11, in 18 patients with Costello syndrome. Author(s): Troger B, Kutsche K, Bolz H, Luttgen S, Gal A, Almassy Z, Caliebe A, Freisinger P, Hobbiebrunken E, Morlot M, Stefanova M, Streubel B, Wieczorek D, Meinecke P. Source: American Journal of Medical Genetics. 2003 August 15; 121A(1): 82-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12900909
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Non-bullous congenital ichthyosiform erythroderma, with ocular albinism and Noonan syndrome. Author(s): Hill V, Griffiths W, Kerr-Muir M, Hardman-Lea S. Source: Clinical and Experimental Dermatology. 2000 November; 25(8): 611-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11167973
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Noonan syndrome (case reports). Author(s): Kumta NB, Vengsarkar AS, Mhaiskar U. Source: Indian Pediatrics. 1980 August; 17(8): 703-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7228363
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Noonan syndrome and aortic coarctation. Author(s): Digilio MC, Marino B, Picchio F, Prandstraller D, Toscano A, Giannotti A, Dallapiccola B. Source: American Journal of Medical Genetics. 1998 November 2; 80(2): 160-2. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9805134
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Noonan syndrome and cavernous hemangioma of the brain. Author(s): Tanaka Y, Masuno M, Iwamoto H, Aida N, Ijiri R, Yamanaka S, Imaizumi K, Kuroki Y. Source: American Journal of Medical Genetics. 1999 January 29; 82(3): 212-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10215542
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Noonan syndrome and hyperextensible finger joints. Author(s): Pohjola-Sintonen S. Source: Archives of Internal Medicine. 1985 January; 145(1): 179-80. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3970639
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Noonan syndrome and its related disorders. Author(s): Fukushima Y. Source: Acta Paediatr Jpn. 1996 February; 38(1): 102-4. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8992851
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Noonan syndrome and moyamoya. Author(s): Ganesan V, Kirkham FJ. Source: Pediatric Neurology. 1997 April; 16(3): 256-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9165521
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Noonan syndrome and neuroblastoma. Author(s): Cotton JL, Williams RG. Source: Archives of Pediatrics & Adolescent Medicine. 1995 November; 149(11): 1280-1. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7581766
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Noonan syndrome and trisomy 21 mongolism in sibs. Author(s): Bianchine JW. Source: Am J Dis Child. 1973 December; 126(6): 823-6. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4271368
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Noonan syndrome associated with anomalous coronary artery and other cardiac defects. Author(s): Saito A, Sekiguchi A, Chikada M, Tonari K. Source: Jpn J Thorac Cardiovasc Surg. 2004 January; 52(1): 18-20. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=14760986
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Noonan syndrome associated with central giant cell granuloma. Author(s): Ucar B, Okten A, Mocan H, Ercin C. Source: Clinical Genetics. 1998 May; 53(5): 411-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9660063
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Noonan syndrome associated with moyamoya disease: report of one case. Author(s): Tang KT, Yang W, Wong J, Lee KY. Source: Acta Paediatr Taiwan. 1999 July-August; 40(4): 274-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10910629
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Noonan syndrome associated with neuroblastoma: a case report. Author(s): Lopez-Miranda B, Westra SJ, Yazdani S, Boechat MI. Source: Pediatric Radiology. 1997 April; 27(4): 324-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9162899
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Noonan syndrome associated with thromboembolic brain infarcts and posterior circulation abnormalities. Author(s): Hinnant CA. Source: American Journal of Medical Genetics. 1995 March 27; 56(2): 241-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7625454
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Noonan syndrome associated with unilateral iris coloboma and congenital chylothorax in an infant. Author(s): Carvalho DR, Alves VV, Minare-Junior A, Peres LC, Pina-Neto JM, Ramos ES. Source: Clinical Dysmorphology. 2003 April; 12(2): 143-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12868481
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Noonan syndrome in a patient with hyperplasia of the myenteric plexuses and neurofibromatosis. Author(s): Saul RA. Source: American Journal of Medical Genetics. 1985 July; 21(3): 491-2. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3927727
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Noonan syndrome in an adult family presenting with chronic lymphedema. Author(s): Miller M, Motulsky AC. Source: The American Journal of Medicine. 1978 August; 65(2): 379-83. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=686024
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Noonan syndrome in twins. Author(s): Karpouzas J, Papaioannou AC. Source: The Journal of Pediatrics. 1974 July; 85(1): 84-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4853368
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Noonan syndrome or new autosomal dominant condition with coarctation of the aorta, hypertrophic cardiomyopathy, and minor anomalies. Author(s): Lemire EG. Source: American Journal of Medical Genetics. 2002 December 1; 113(3): 286-90. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12439898
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Noonan syndrome presented with cystic hygroma and chylothorax: case report. Author(s): Huang HC, Wang TJ, Huang CB. Source: Changgeng Yi Xue Za Zhi. 1999 June; 22(2): 313-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10493040
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Noonan syndrome presenting growth hormone neurosecretory dysfunction. Author(s): Tanaka K, Sato A, Naito T, Kuramochi K, Itabashi H, Takemura Y. Source: Intern Med. 1992 July; 31(7): 908-11. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1450501
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Noonan syndrome revisited. Author(s): Noonan JA. Source: The Journal of Pediatrics. 1999 December; 135(6): 667-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10586166
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Noonan syndrome with bilateral ureteral ectopia. Author(s): Hellebusch AA. Source: Journal of Pediatric Surgery. 1971 August; 6(4): 490. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=5563894
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Noonan syndrome with cafe-au-lait spots and multiple lentigines syndrome are not linked to the neurofibromatosis type 1 locus. Author(s): Ahlbom BE, Dahl N, Zetterqvist P, Anneren G. Source: Clinical Genetics. 1995 August; 48(2): 85-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7586657
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Noonan syndrome with cardiac left-sided obstructive lesions. Author(s): Digilio MC, Marino B, Giannotti A, Dallapiccola B. Source: Human Genetics. 1997 February; 99(2): 289. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9048939
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Noonan syndrome with double-chambered right ventricle. Author(s): Ozkutlu S, Cil E, Pasaoglu I, Saraclar M. Source: Pediatric Cardiology. 1996 July-August; 17(4): 251-3. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8662049
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Noonan syndrome with hypertrophic obstructive cardiomyopathy. Author(s): Tanimura A, Hayashi I, Adachi K, Nakashima T, Ota K, Toshima H. Source: Acta Pathol Jpn. 1977 March; 27(2): 225-30. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=558713
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Noonan syndrome with leukaemoid reaction and overproduction of catecholamines: a case report. Author(s): Kondoh T, Ishii E, Aoki Y, Shimizu T, Zaitsu M, Matsubara Y, Moriuchi H. Source: European Journal of Pediatrics. 2003 July; 162(7-8): 548-9. Epub 2003 May 09. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12739139
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Noonan syndrome with spontaneous chylothorax at birth. Author(s): Chan DK, Ho NK. Source: Aust Paediatr J. 1989 October; 25(5): 296-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2590131
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Noonan syndrome. Author(s): Daoud MS, Dahl PR, Su WP. Source: Semin Dermatol. 1995 June; 14(2): 140-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7640194
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Noonan syndrome. Author(s): Kulkarni ML, Ramesh D. Source: Indian Pediatrics. 2003 May; 40(5): 431-2. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12768048
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Noonan syndrome. Author(s): Lin AE. Source: Journal of Medical Genetics. 1988 January; 25(1): 64-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3351898
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Noonan syndrome. Author(s): Allanson JE. Source: Journal of Medical Genetics. 1987 January; 24(1): 9-13. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3543368
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Noonan syndrome. Author(s): Chhangani K, Kothari D, Banerjee K. Source: J Assoc Physicians India. 1986 August; 34(8): 604. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3793688
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Noonan syndrome. Author(s): Raman Unnithan R, Bahuleyan CG, Matnew Roy VC. Source: J Assoc Physicians India. 1985 February; 33(2): 177-9. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3997763
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Noonan syndrome. Author(s): Kaushik A, Kharbanda OP, Sadhna, Jain PK, Kumar R. Source: Indian Pediatrics. 1984 May; 21(5): 421-2. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=6480094
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Noonan syndrome. Author(s): Mukherji U, Abbas M. Source: Indian Pediatrics. 1983 June; 20(6): 455-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=6642618
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Noonan syndrome. A report of male-to-male transmission. Author(s): Traisman ES, Traisman HS. Source: Clinical Pediatrics. 1982 January; 21(1): 51-3. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7056002
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Noonan syndrome. An update and review for the primary pediatrician. Author(s): Noonan JA. Source: Clinical Pediatrics. 1994 September; 33(9): 548-55. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8001324
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Noonan syndrome: a brief overview. Author(s): Chakraborty A. Source: Hosp Med. 2002 December; 63(12): 743-5. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12512201
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Noonan syndrome: a case report. Author(s): Nirmal T, Muthu MS, Arranganal P. Source: J Indian Soc Pedod Prev Dent. 2001 June; 19(2): 77-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11692827
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Noonan syndrome: a case with recurrent keloid formation. Author(s): Gulec AT, Karaduman A, Seckin D. Source: Cutis; Cutaneous Medicine for the Practitioner. 2001 April; 67(4): 315-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11324394
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Noonan syndrome: a clinical and genetic study of 31 patients. Author(s): Bertola DR, Sugayama SM, Albano LM, Kim CA, Gonzalez CH. Source: Revista Do Hospital Das Clinicas. 1999 September-October; 54(5): 147-50. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10788835
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Noonan syndrome: a clinical description emphasizing the cardiac findings. Author(s): Noonan J, O'Connor W. Source: Acta Paediatr Jpn. 1996 February; 38(1): 76-83. Review. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8992867
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Noonan syndrome: a cryptic condition in early gestation. Author(s): Achiron R, Heggesh J, Grisaru D, Goldman B, Lipitz S, Yagel S, Frydman M. Source: American Journal of Medical Genetics. 2000 May 29; 92(3): 159-65. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10817648
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Noonan syndrome: a review. Author(s): Mendez HM, Opitz JM. Source: American Journal of Medical Genetics. 1985 July; 21(3): 493-506. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3895929
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Noonan syndrome: coagulation and clinical aspects. Author(s): Massarano AA, Wood A, Tait RC, Stevens R, Super M. Source: Acta Paediatrica (Oslo, Norway : 1992). 1996 October; 85(10): 1181-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8922080
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Noonan syndrome: diagnostic difficulties. A case report and literature review. Author(s): Eccles D, Meek D, Nwosu EC. Source: Journal of Obstetrics and Gynaecology : the Journal of the Institute of Obstetrics and Gynaecology. 2003 November; 23(6): 666-7. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=14617476
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Noonan syndrome: genotype analysis of the Noonan syndrome critical region at chromosome 12q in a three-generation family. Author(s): Ogata T, Muroya K, Tsukahara M. Source: American Journal of Medical Genetics. 1998 September 1; 79(2): 153-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9741475
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Noonan syndrome: growth and clinical manifestations in 144 cases. Author(s): Ranke MB, Heidemann P, Knupfer C, Enders H, Schmaltz AA, Bierich JR. Source: European Journal of Pediatrics. 1988 December; 148(3): 220-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3215198
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Noonan syndrome: partial factor XI deficiency. Author(s): de Haan M, vd Kamp JJ, Briet E, Dubbeldam J. Source: American Journal of Medical Genetics. 1988 February; 29(2): 277-82. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3354599
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Noonan syndrome: speech and language characteristics. Author(s): Wilson M, Dyson A. Source: Journal of Communication Disorders. 1982 September; 15(5): 347-52. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7130439
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Noonan Syndrome
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Noonan syndrome: structural abnormalities of the mitral valve causing subaortic obstruction. Author(s): Marino B, Gagliardi MG, Digilio MC, Polletta B, Grazioli S, Agostino D, Giannotti A, Dallapiccola B. Source: European Journal of Pediatrics. 1995 December; 154(12): 949-52. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8801101
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Noonan syndrome: the changing phenotype. Author(s): Allanson JE, Hall JG, Hughes HE, Preus M, Witt RD. Source: American Journal of Medical Genetics. 1985 July; 21(3): 507-14. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4025385
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Noonan syndrome-an unusual family with above average intelligence, a high incidence of cancer and rare type of vasculitis. Author(s): Berberich MS, Hall JG. Source: Birth Defects Orig Artic Ser. 1976; 12(1): 181-6. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=990443
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Noonan syndrome--then and now. Author(s): Noonan J. Source: Cardiology in the Young. 1999 November; 9(6): 545-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10593261
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Normal banded karyotype in Noonan syndrome. Author(s): Borgaonkar DS. Source: Lancet. 1973 May 19; 1(7812): 1114. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4122024
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Normal pregnancy in a case of Noonan syndrome with hypertrophic cardiomyopathy. Author(s): Yadav BS, Indurkar M, Bisarya BN. Source: J Assoc Physicians India. 1996 July; 44(7): 494-5. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9282616
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Novel recurrent nonsense mutation causing neurofibromatosis type 1 (NF1) in a family segregating both NF1 and Noonan syndrome. Author(s): Bahuau M, Houdayer C, Assouline B, Blanchet-Bardon C, Le Merrer M, Lyonnet S, Giraud S, Recan D, Lakhdar H, Vidaud M, Vidaud D. Source: American Journal of Medical Genetics. 1998 January 23; 75(3): 265-72. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9475595
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Occurrence of myeloproliferative disorder in patients with Noonan syndrome. Author(s): Wilcox WD. Source: The Journal of Pediatrics. 1998 January; 132(1): 189-90. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9470031
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Occurrence of myeloproliferative disorder in patients with Noonan syndrome. Author(s): Bader-Meunier B, Tchernia G, Mielot F, Fontaine JL, Thomas C, Lyonnet S, Lavergne JM, Dommergues JP. Source: The Journal of Pediatrics. 1997 June; 130(6): 885-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9202609
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Ocular manifestations of Noonan syndrome. Author(s): Lee NB, Kelly L, Sharland M. Source: Eye (London, England). 1992; 6 ( Pt 3): 328-34. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1446772
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Odontogenic keratocysts do not occur in Noonan syndrome. Author(s): Fryer A. Source: Clinical Dysmorphology. 1993 April; 2(2): 185-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8281286
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Oral abnormalities in the Saldino-Noonan syndrome. Author(s): Stromme Koppang H, Boman H, Hoel PS. Source: Virchows Arch a Pathol Anat Histopathol. 1983; 398(3): 247-62. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=6402845
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Oral findings in Noonan syndrome: report of a case. Author(s): Okada M, Sasaki N, Kaihara Y, Okada R, Amano H, Miura K, Kozai K. Source: J Oral Sci. 2003 June; 45(2): 117-21. Erratum In: J Oral Sci. 2003 September; 45(3): Following 180. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12930136
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Orbital rhabdomyosarcoma in Noonan syndrome. Author(s): Jung A, Bechthold S, Pfluger T, Renner C, Ehrt O. Source: Journal of Pediatric Hematology/Oncology : Official Journal of the American Society of Pediatric Hematology/Oncology. 2003 April; 25(4): 330-2. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12679651
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Palinopsia with bacterial brain abscess and Noonan syndrome. Author(s): Arnold RW, Janis B, Wellman S, Crouch E, Rosen C. Source: Alaska Med. 1999 January-March; 41(1): 3-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10224677
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Noonan Syndrome
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Partial atrioventricular canal with left-sided obstruction in patients with Noonan syndrome. Author(s): Marino B, Digilio MC, Gagliardi MG, Giannotti A, Dallapiccola B. Source: Pediatric Cardiology. 1996 July-August; 17(4): 278. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8662057
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Partial deficiency of coagulation factor XI as a newly recognized feature of Noonan syndrome. Author(s): Kitchens CS, Alexander JA. Source: The Journal of Pediatrics. 1983 February; 102(2): 224-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=6822926
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Patient with del(12)(q12q13.12) manifesting abnormalities compatible with Noonan syndrome. Author(s): Tonoki H, Saitoh S, Kobayashi K. Source: American Journal of Medical Genetics. 1998 February 3; 75(4): 416-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9482650
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Patterns of cognitive functioning in school-aged children with Noonan syndrome associated with variability in phenotypic expression. Author(s): van der Burgt I, Thoonen G, Roosenboom N, Assman-Hulsmans C, Gabreels F, Otten B, Brunner HG. Source: The Journal of Pediatrics. 1999 December; 135(6): 707-13. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10586173
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Phenotypic heterogeneity in the Noonan syndrome. Author(s): Wilroy RS Jr, Summitt RL, Tipton RE, Primm PA, Martens PR. Source: Birth Defects Orig Artic Ser. 1979; 15(5B): 305-11. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=526584
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Photoanthropometric study of facial growth in Noonan syndrome. Author(s): Sharland M, Morgan M, Patton MA. Source: American Journal of Medical Genetics. 1993 February 15; 45(4): 430-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8465844
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Poor prenatal detection rate of cardiac anomalies in Noonan syndrome. Author(s): Menashe M, Arbel R, Raveh D, Achiron R, Yagel S. Source: Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology. 2002 January; 19(1): 51-5. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11851968
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Possible etiologic mechanisms of the short stature in the Noonan syndrome. Author(s): Elders MJ, Char F. Source: Birth Defects Orig Artic Ser. 1976; 12(6): 127-33. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=974248
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Pregnancy in women with Noonan syndrome: report of two cases. Author(s): Cullimore AJ, Smedstad KG, Brennan BG. Source: Obstetrics and Gynecology. 1999 May; 93(5 Pt 2): 813-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10912404
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Prenatal features of Noonan syndrome. Author(s): Nisbet DL, Griffin DR, Chitty LS. Source: Prenatal Diagnosis. 1999 July; 19(7): 642-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10419612
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Prenatal sonographic documentation of cystic hygroma regression in Noonan syndrome. Author(s): Donnenfeld AE, Nazir MA, Sindoni F, Librizzi RJ. Source: American Journal of Medical Genetics. 1991 June 15; 39(4): 461-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1877625
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Primidone teratogenicity of Noonan syndrome. Author(s): Burn J, Baraitser M. Source: The Journal of Pediatrics. 1982 May; 100(5): 836. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7069554
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Probable right ventricular dysplasia and patent foramen ovale presenting with cyanosis and clubbing in a patient with characteristics of Noonan syndrome. Author(s): Wilmshurst P. Source: Heart (British Cardiac Society). 1997 March; 77(3): 294. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9093058
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Probable right ventricular dysplasia and patent foramen ovale presenting with cyanosis and clubbing in a patient with characteristics of Noonan syndrome. Author(s): Wilmshurst P, Da Costa P. Source: British Heart Journal. 1995 October; 74(4): 471-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7488469
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Progression of nonimmune hydrops in a fetus with Noonan syndrome. Author(s): Katz VL, Kort B, Watson WJ. Source: American Journal of Perinatology. 1993 November; 10(6): 417-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8267802
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Noonan Syndrome
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Progressive hydrocephalus in Noonan syndrome. Author(s): Fryns JP. Source: Clinical Dysmorphology. 1997 October; 6(4): 379. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9354850
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Proximal left coronary artery occlusion in a 15-year-old boy with noonan syndrome and hypertrophic cardiomyopathy. Author(s): Delhaas T, Muhler EG. Source: Pediatric Cardiology. 2003 January-February; 24(1): 67-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12574982
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PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome. Author(s): Kosaki K, Suzuki T, Muroya K, Hasegawa T, Sato S, Matsuo N, Kosaki R, Nagai T, Hasegawa Y, Ogata T. Source: The Journal of Clinical Endocrinology and Metabolism. 2002 August; 87(8): 3529-33. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12161469
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PTPN11 mutation in a large family with Noonan syndrome and dizygous twinning. Author(s): Schollen E, Matthijs G, Gewillig M, Fryns JP, Legius E. Source: European Journal of Human Genetics : Ejhg. 2003 January; 11(1): 85-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12529711
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PTPN11 mutation in a young man with Noonan syndrome and retinitis pigmentosa. Author(s): Schollen E, Matthijs G, Fryns JF. Source: Genet Couns. 2003; 14(2): 259. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12872825
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PTPN11 mutations in Noonan syndrome type I: detection of recurrent mutations in exons 3 and 13. Author(s): Maheshwari M, Belmont J, Fernbach S, Ho T, Molinari L, Yakub I, Yu F, Combes A, Towbin J, Craigen WJ, Gibbs R. Source: Human Mutation. 2002 October; 20(4): 298-304. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12325025
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PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. Author(s): Tartaglia M, Kalidas K, Shaw A, Song X, Musat DL, van der Burgt I, Brunner HG, Bertola DR, Crosby A, Ion A, Kucherlapati RS, Jeffery S, Patton MA, Gelb BD. Source: American Journal of Human Genetics. 2002 June; 70(6): 1555-63. Epub 2002 May 01. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11992261
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Pulmonary lymphangiectasis in Noonan syndrome. Author(s): Hernandez RJ, Stern AM, Rosenthal A. Source: Ajr. American Journal of Roentgenology. 1980 January; 134(1): 75-80. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=6766041
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Reproductive failure in a patient with neurofibromatosis-Noonan syndrome. Author(s): Meschede D, Froster UG, Gullotta F, Nieschlag E. Source: American Journal of Medical Genetics. 1993 September 1; 47(3): 346-51. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8135279
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Resolution of non-immune hydrops in Noonan syndrome with favorable outcome. Author(s): Witters I, Spitz B, Van Hole C, Devriendt K, Fryns JP, Verbek K. Source: American Journal of Medical Genetics. 2002 July 15; 110(4): 408-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12116221
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Restrictive and hypertrophic cardiomyopathies in Noonan syndrome: the overlap syndromes. Author(s): Wilmshurst PT, Katritsis D. Source: Heart (British Cardiac Society). 1996 January; 75(1): 94-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8624883
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Retinitis pigmentosa in a young man with Noonan syndrome: further evidence that Noonan syndrome (NS) and the cardio-facio-cutaneous syndrome (CFC) are variable manifestations of the same entity? Author(s): Lorenzetti ME, Fryns JP. Source: American Journal of Medical Genetics. 1996 October 16; 65(2): 97-9. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8911596
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Schizophrenia in a 46,XY male with the Noonan syndrome. Author(s): Krishna NR, Abrams R, Taylor MA, Behar D. Source: The British Journal of Psychiatry; the Journal of Mental Science. 1977 June; 130: 570-2. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=871571
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Severe pulmonary hypertension in Ullrich-Noonan syndrome. Author(s): Tinker A, Uren N, Schofield J. Source: British Heart Journal. 1989 July; 62(1): 74-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2757877
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Sex chromosome abnormalities and Noonan Syndrome. Author(s): Nielsen DB. Source: Ariz Med. 1980 July; 37(7): 486-90. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7406711
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Short rib-polydactyly syndrome type I (Saldino-Noonan syndrome). Author(s): Mishra OP, Mohanty C, Kumar M, Bhatia BD, Singh M, Bhargava V. Source: Indian Pediatrics. 1991 September; 28(9): 1063-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1802845
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Short stature in Noonan syndrome: response to growth hormone therapy. Author(s): Kirk JM, Betts PR, Butler GE, Donaldson MD, Dunger DB, Johnston DI, Kelnar CJ, Price DA, Wilton P, Group tU. Source: Archives of Disease in Childhood. 2001 May; 84(5): 440-3. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11316696
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Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome. Author(s): Musante L, Kehl HG, Majewski F, Meinecke P, Schweiger S, GillessenKaesbach G, Wieczorek D, Hinkel GK, Tinschert S, Hoeltzenbein M, Ropers HH, Kalscheuer VM. Source: European Journal of Human Genetics : Ejhg. 2003 February; 11(2): 201-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12634870
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Spinal deformities in Noonan syndrome: a clinical review of sixty cases. Author(s): Lee CK, Chang BS, Hong YM, Yang SW, Lee CS, Seo JB. Source: The Journal of Bone and Joint Surgery. American Volume. 2001 October; 83A(10): 1495-502. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11679599
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Spontaneous chylothorax in Noonan syndrome. Treatment with prednisone. Author(s): Goens MB, Campbell D, Wiggins JW. Source: Am J Dis Child. 1992 December; 146(12): 1453-6. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1456257
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Spontaneous corneal rupture in Noonan syndrome. A case report. Author(s): Au YK, Collins WP, Patel JS, Asamoah A. Source: Ophthalmic Genetics. 1997 March; 18(1): 39-41. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9134549
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Spontaneous remission of juvenile chronic myelomonocytic leukemia in an infant with Noonan syndrome. Author(s): Fukuda M, Horibe K, Miyajima Y, Matsumoto K, Nagashima M. Source: Journal of Pediatric Hematology/Oncology : Official Journal of the American Society of Pediatric Hematology/Oncology. 1997 March-April; 19(2): 177-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9149755
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Swyer-James syndrome associated with Noonan syndrome: report of a case. Author(s): Lin YM, Huang WL, Hwang JJ, Ko YL, Lien WP. Source: J Formos Med Assoc. 1995 December; 94(12): 742-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8541736
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Syndromology gone awry--the phenotypic overlap of NF-1 with the Noonan syndrome. Author(s): Riccardi VM. Source: Neurofibromatosis. 1989; 2(5-6): 249-50. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2518506
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Systemic lupus erythematosus in a man with Noonan syndrome. Author(s): Martin DM, Gencyuz CF, Petty EM. Source: American Journal of Medical Genetics. 2001 July 22; 102(1): 59-62. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11471173
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Tandem duplication within a neurofibromatosis type 1 (NF1) gene exon in a family with features of Watson syndrome and Noonan syndrome. Author(s): Tassabehji M, Strachan T, Sharland M, Colley A, Donnai D, Harris R, Thakker N. Source: American Journal of Human Genetics. 1993 July; 53(1): 90-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8317503
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Temporal bone histopathological study of Noonan syndrome. Author(s): Miura M, Sando I, Orita Y, Hirsch BE. Source: International Journal of Pediatric Otorhinolaryngology. 2001 July 30; 60(1): 7382. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11434957
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The cardio-facio-cutaneous (CFC) syndrome and Noonan syndrome: are they the same? Author(s): Fryer AE, Holt PJ, Hughes HE. Source: American Journal of Medical Genetics. 1991 March 15; 38(4): 548-51. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2063896
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The cardio-facio-cutaneous syndrome: a manifestation of the Noonan syndrome? Author(s): Ward KA, Moss C, McKeown C. Source: The British Journal of Dermatology. 1994 August; 131(2): 270-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7917994
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The first Noonan syndrome gene: PTPN11, which encodes the protein tyrosine phosphatase SHP-2. Author(s): Allanson J. Source: Pediatric Research. 2002 October; 52(4): 471. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12357036
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The human ribosomal protein L6 gene in a critical region for Noonan syndrome. Author(s): Kenmochi N, Yoshihama M, Higa S, Tanaka T. Source: Journal of Human Genetics. 2000; 45(5): 290-3. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11043511
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The neurofibromatosis-Noonan syndrome. Author(s): Opitz JM, Weaver DD. Source: American Journal of Medical Genetics. 1985 July; 21(3): 477-90. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3927726
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The neurofibromatosis-Noonan syndrome. Author(s): Mendez HM. Source: American Journal of Medical Genetics. 1985 July; 21(3): 471-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3927725
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The neurofibromatosis-Noonan syndrome: genetic heterogeneity versus clinical variability. Case report and review of the literature. Author(s): Borochowitz Z, Berant N, Dar H, Berant M. Source: Neurofibromatosis. 1989; 2(5-6): 309-14. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2518512
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The Noonan syndrome with intestinal lymphangiectasia. Author(s): Herzog DB, Logan R, Kooistra JB. Source: The Journal of Pediatrics. 1976 February; 88(2): 270-2. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1249692
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The Noonan syndrome. Author(s): Fryns JP, Van der Hauwaert L, Van den Berghe H. Source: Acta Paediatr Belg. 1977 July-September; 30(3): Suppl Iii: 17-24. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=607763
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The Noonan syndrome. Author(s): Opitz JM. Source: American Journal of Medical Genetics. 1985 July; 21(3): 515-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3895930
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The Noonan syndrome. Author(s): Sanchez-Cascos A. Source: European Heart Journal. 1983 April; 4(4): 223-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=6884370
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The Noonan syndrome. The Nancy experience revisited. Author(s): Chery M, Philippe C, Worms AM, Gilgenkrantz S. Source: Genet Couns. 1993; 4(2): 113-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8357561
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The Noonan syndrome/cherubism association. Author(s): Dunlap C, Neville B, Vickers RA, O'Neil D, Barker B. Source: Oral Surg Oral Med Oral Pathol. 1989 June; 67(6): 698-705. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2740093
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The Noonan syndrome: a family study. Author(s): Bolton MR, Pugh DM, Mattioli LF, Dunn MI, Schimke RN. Source: Annals of Internal Medicine. 1974 May; 80(5): 626-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4823815
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The Noonan syndrome--a review of the clinical and genetic features of 27 cases. Author(s): Collins E, Turner G. Source: The Journal of Pediatrics. 1973 December; 83(6): 941-50. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4148394
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The Ullrich-Noonan syndrome (Turner phenotype). Author(s): Nora JJ, Nora AH, Sinha AK, Spangler RD, Lubs HA. Source: Am J Dis Child. 1974 January; 127(1): 48-55. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4809794
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The unusual association of three autoimmune diseases in a patient with Noonan syndrome. Author(s): Amoroso A, Garzia P, Vadacca M, Galluzzo S, Del Porto F, Mitterhofer AP, Afeltra A. Source: The Journal of Adolescent Health : Official Publication of the Society for Adolescent Medicine. 2003 January; 32(1): 94-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12507808
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Transient abnormal myelopoiesis in Noonan syndrome. Author(s): Silvio F, Carlo L, Elena B, Nicoletta B, Daniela F, Roberto M. Source: Journal of Pediatric Hematology/Oncology : Official Journal of the American Society of Pediatric Hematology/Oncology. 2002 December; 24(9): 763-4. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12468921
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Ulerythema ophryogenes in Noonan syndrome. Author(s): Snell JA, Mallory SB. Source: Pediatric Dermatology. 1990 March; 7(1): 77-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2343011
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Ullrich-Noonan syndrome. Author(s): Kislaoglu E, Yuksel F. Source: Plastic and Reconstructive Surgery. 1995 August; 96(2): 485-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7624428
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Ullrich-Noonan syndrome. Author(s): Johansson BW, Mandahl N. Source: Acta Med Scand. 1980; 207(6): 505-10. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7424572
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Unusual combination of congenital heart defects in an infant with Noonan syndrome. Author(s): Feit LR, Hansen K, Oyer CE, Werner JC. Source: Pediatric Cardiology. 1995 March-April; 16(2): 95-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7784245
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Vaginal rhabdomyosarcoma in a patient with Noonan syndrome. Author(s): Khan S, McDowell H, Upadhyaya M, Fryer A. Source: Journal of Medical Genetics. 1995 September; 32(9): 743-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8544198
Studies
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Verbal-performance discrepancies in a family with Noonan syndrome. Author(s): Cornish KM. Source: American Journal of Medical Genetics. 1996 December 11; 66(2): 235-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8958337
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Vertical transmission of the neurofibromatosis/Noonan syndrome. Author(s): Quattrin T, McPherson E, Putnam T. Source: American Journal of Medical Genetics. 1987 March; 26(3): 645-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3105315
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Very superior intelligence in a child with Noonan syndrome. Author(s): Finegan JA, Hughes HE. Source: American Journal of Medical Genetics. 1988 October; 31(2): 385-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3232701
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What is the value of growth hormone treatment in short children with specified syndrome? Turner's syndrome, osteochondrodysplasias, Prader-Willi syndrome, Noonan syndrome. Author(s): Nilsson KO. Source: Acta Paediatr Scand Suppl. 1989; 362: 61-8. Review. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2485602
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X-chromosome banding in Noonan syndrome. Author(s): Barlow MJ Jr, Neu RL, Gardner LI. Source: Am J Dis Child. 1973 November; 126(5): 656-7. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4126797
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CHAPTER 2. ALTERNATIVE MEDICINE AND NOONAN SYNDROME Overview In this chapter, we will begin by introducing you to official information sources on complementary and alternative medicine (CAM) relating to noonan 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 noonan 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 “noonan 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 noonan syndrome: •
A cohort study of childhood hypertrophic cardiomyopathy: improved survival following high-dose beta-adrenoceptor antagonist treatment. Author(s): Ostman-Smith I, Wettrell G, Riesenfeld T. Source: Journal of the American College of Cardiology. 1999 November 15; 34(6): 181322. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10577575
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Noonan's syndrome and seminoma of undescended testicle. Author(s): Aggarwal A, Krishnan J, Kwart A, Perry D. Source: Southern Medical Journal. 2001 April; 94(4): 432-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11332913
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Orbital rhabdomyosarcoma in Noonan syndrome. Author(s): Jung A, Bechthold S, Pfluger T, Renner C, Ehrt O. Source: Journal of Pediatric Hematology/Oncology : Official Journal of the American Society of Pediatric Hematology/Oncology. 2003 April; 25(4): 330-2. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12679651
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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AOL: http://search.aol.com/cat.adp?id=169&layer=&from=subcats
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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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WebMDHealth: 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 3. PATENTS ON NOONAN SYNDROME Overview Patents can be physical innovations (e.g. chemicals, pharmaceuticals, medical equipment) or processes (e.g. treatments or diagnostic procedures). The United States Patent and Trademark Office defines a patent as a grant of a property right to the inventor, issued by the Patent and Trademark Office.4 Patents, therefore, are intellectual property. For the United States, the term of a new patent is 20 years from the date when the patent application was filed. If the inventor wishes to receive economic benefits, it is likely that the invention will become commercially available within 20 years of the initial filing. It is important to understand, therefore, that an inventor’s patent does not indicate that a product or service is or will be commercially available. The patent implies only that the inventor has “the right to exclude others from making, using, offering for sale, or selling” the invention in the United States. While this relates to U.S. patents, similar rules govern foreign patents. In this chapter, we show you how to locate information on patents and their inventors. If you find a patent that is particularly interesting to you, contact the inventor or the assignee for further information. IMPORTANT NOTE: When following the search strategy described below, you may discover non-medical patents that use the generic term “noonan syndrome” (or a synonym) in their titles. To accurately reflect the results that you might find while conducting research on noonan syndrome, we have not necessarily excluded nonmedical patents in this bibliography.
Patent Applications on Noonan Syndrome As of December 2000, U.S. patent applications are open to public viewing.5 Applications are patent requests which have yet to be granted. (The process to achieve a patent can take several years.) The following patent applications have been filed since December 2000 relating to noonan syndrome:
4Adapted
from the United States Patent and Trademark Office: http://www.uspto.gov/web/offices/pac/doc/general/whatis.htm. 5 This has been a common practice outside the United States prior to December 2000.
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Noonan syndrome gene Inventor(s): Gelb, Bruce D.; (Dobbs Ferry, NY), Tartaglia, Marco; (New York, NY) Correspondence: Darby & Darby P.C.; P. O. Box 5257; New York; NY; 10150-5257; US Patent Application Number: 20030125289 Date filed: October 1, 2002 Abstract: Diagnostic and therapeutic applications for Noonan Syndrome are described. The diagnostic and therapeutic applications are based on certain mutations in the protein tyrosine phosphatase gene PTPN11 and its expression product, PTPN11, as well as mutations in other components in a PTPN11 signal transduction pathway promoting an increased signaling flux. Also described are nucleotide sequences, amino acid sequences, probes, and primers related to PTPN11 and PTPN11 variants, and cells expressing such variants. Excerpt(s): This application claims priority from U.S. Provisional Application Serial No. 60/326,532, filed Oct. 1, 2001, which is hereby incorporated by reference in its entirety. The present invention relates to diagnostic and therapeutic applications for Noonan Syndrome. In particular, diagnostic and therapeutic applications based on certain mutations in the protein tyrosine phosphatase gene PTPN11 or its expression product are contemplated. Noonan syndrome (NS) is an autosomal dominant disorder characterized by dysmorphic facial features, proportionate short stature, and heart disease, i.e., pulmonic stenosis and hypertrophic cardiomyopathy most commonly (Noonan, Am. J. Dis. Child. 1968, 116:373-380; Allanson, J. Med. Genet. 1987, 24:9-13). Webbed neck, chest deformity, cryptorchidism, mental retardation, and bleeding diatheses constitute other frequently associated findings. NS is a relatively common syndrome with an estimated incidence of 1:1000 to 1:2500 live births. Web site: http://appft1.uspto.gov/netahtml/PTO/search-bool.html
Keeping Current In order to stay informed about patents and patent applications dealing with noonan syndrome, you can access the U.S. Patent Office archive via the Internet at the following Web address: http://www.uspto.gov/patft/index.html. You will see two broad options: (1) Issued Patent, and (2) Published Applications. To see a list of issued patents, perform the following steps: Under “Issued Patents,” click “Quick Search.” Then, type “noonan syndrome” (or synonyms) into the “Term 1” box. After clicking on the search button, scroll down to see the various patents which have been granted to date on noonan syndrome. You can also use this procedure to view pending patent applications concerning noonan syndrome. Simply go back to http://www.uspto.gov/patft/index.html. Select “Quick Search” under “Published Applications.” Then proceed with the steps listed above.
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CHAPTER 4. BOOKS ON NOONAN SYNDROME Overview This chapter provides bibliographic book references relating to noonan syndrome. In addition to online booksellers such as www.amazon.com and www.bn.com, excellent sources for book titles on noonan 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.
Chapters on Noonan Syndrome In order to find chapters that specifically relate to noonan syndrome, an excellent source of abstracts is the Combined Health Information Database. You will need to limit your search to book chapters and noonan 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 “noonan syndrome” (or synonyms) into the “For these words:” box. The following is a typical result when searching for book chapters on noonan syndrome: •
Noonan Syndrome Source: in Plumridge, D., et al., eds. Student with a Genetic Disorder: Educational Implications for Special Education Teachers and for Physical Therapists, Occupational Therapists, and Speech Pathologists. Springfield, IL: Charles C Thomas Publisher. 1993. p. 161-165. Contact: Available from Charles C Thomas Publisher. 2600 South First Street, Springfield, IL 62794-9265. (212) 789-8980. Fax (217) 789-9130. PRICE: $75.95 plus shipping and handling (cloth); $39.95 plus shipping and handling (paper). ISBN: 0398058393. Summary: Noonan syndrome is a collection of multiple congenital anomalies involving heart defects, short stature, characteristic facial features, and undescended testes and reduced fertility in males; occasionally there is hearing loss. This chapter on Noonan syndrome is from a text for special education teachers, physical therapists, occupational
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therapists, and speech pathologists on the educational implications of genetic disorders. Topics covered include the physical and characteristic features of the disorder, the genetics of the disorder, the cognitive and behavior profiles, the educational implications, physical therapy, occupational therapy, hearing and speech considerations, psychosocial issues, and prognosis. 1 figure. 1 reference.
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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 Institute6: •
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/
6
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.7 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:8 •
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
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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/
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Chemical Information: Provides links to various chemical databases and references: http://sis.nlm.nih.gov/Chem/ChemMain.html
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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
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Space Life Sciences: Provides links and information to space-based research (including NASA): http://www.nlm.nih.gov/databases/databases_space.html
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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
7
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). 8 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
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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 Gateway9 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.10 To use the NLM Gateway, simply go to the search site at http://gateway.nlm.nih.gov/gw/Cmd. Type “noonan 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 752 3 31 0 43 829
HSTAT11 HSTAT is a free, Web-based resource that provides access to full-text documents used in healthcare decision-making.12 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.13 Simply search by “noonan syndrome” (or synonyms) at the following Web site: http://text.nlm.nih.gov.
9
Adapted from NLM: http://gateway.nlm.nih.gov/gw/Cmd?Overview.x.
10
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). 11 Adapted from HSTAT: http://www.nlm.nih.gov/pubs/factsheets/hstat.html. 12 13
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 Biologists14 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.15 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.16 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 Noonan Syndrome In the following section, we will discuss databases and references which relate to the Genome Project and noonan 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).17 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. 14 Adapted 15
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. 16 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. 17 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 “noonan 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 noonan syndrome: •
Noonan Syndrome 1 Web site: http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=163950 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
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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
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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, Prader-Willi syndrome, Rett syndrome, spinocerebellar atrophy, Williams syndrome. Web site: http://www.ncbi.nlm.nih.gov/disease/Brain.html
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•
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
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
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select the database that you would like to search. The databases available are listed in the drop box next to “Search.” Enter “noonan syndrome” (or synonyms) into the search box and click “Go.” Jablonski’s Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes Database18 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 Database19 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 “noonan 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).
18
Adapted from the National Library of Medicine: http://www.nlm.nih.gov/mesh/jablonski/about_syndrome.html. 19 Adapted from the Genome Database: http://gdbwww.gdb.org/gdb/aboutGDB.html - mission.
59
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 noonan 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 Internetbased 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 noonan 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 noonan 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 “noonan syndrome”:
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Noonan Syndrome
Other guides Birth Defects http://www.nlm.nih.gov/medlineplus/birthdefects.html Cardiomyopathy http://www.nlm.nih.gov/medlineplus/cardiomyopathy.html Chronic Fatigue Syndrome http://www.nlm.nih.gov/medlineplus/chronicfatiguesyndrome.html Dwarfism http://www.nlm.nih.gov/medlineplus/dwarfism.html Genetic Brain Disorders http://www.nlm.nih.gov/medlineplus/geneticbraindisorders.html Genetic Disorders http://www.nlm.nih.gov/medlineplus/geneticdisorders.html Growth Disorders http://www.nlm.nih.gov/medlineplus/growthdisorders.html Head and Brain Malformations http://www.nlm.nih.gov/medlineplus/headandbrainmalformations.html Immune System and Disorders http://www.nlm.nih.gov/medlineplus/immunesystemanddisorders.html Marfan Syndrome http://www.nlm.nih.gov/medlineplus/marfansyndrome.html Metabolic Disorders http://www.nlm.nih.gov/medlineplus/metabolicdisorders.html Turner's Syndrome http://www.nlm.nih.gov/medlineplus/turnerssyndrome.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 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 “noonan syndrome” (or synonyms). The following was recently posted:
Patient Resources 61
•
2002 national guidelines on the management of early syphilis Source: Association for Genitourinary Medicine - Medical Specialty Society; 1999 August (revised 2002); Various pagings http://www.guideline.gov/summary/summary.aspx?doc_id=3036&nbr=2262&a mp;string=Turner-like+AND+syndrome
•
AAOS clinical guideline on shoulder pain Source: American Academy of Orthopaedic Surgeons - Medical Specialty Society; 2001; 24 pages http://www.guideline.gov/summary/summary.aspx?doc_id=2998&nbr=2224&a mp;string=Turner-like+AND+syndrome
•
American Association of Clinical Endocrinologists medical guidelines for clinical practice for growth hormone use in adults and children--2003 update Source: American Association of Clinical Endocrinologists - Medical Specialty Society; 1998 (revised 2003); 13 pages http://www.guideline.gov/summary/summary.aspx?doc_id=3726&nbr=2952&a mp;string=male+AND+Turner+AND+syndrome
•
Assessment: Neurologic risk of immunization. Report of the Therapeutics and Technology Assessment Subcommittee of the American Academy of Neurology Source: American Academy of Neurology - Medical Specialty Society; 1999 May; 7 pages http://www.guideline.gov/summary/summary.aspx?doc_id=2824&nbr=2050&a mp;string=Turner-like+AND+syndrome
•
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=male+AND+Turner+AND+syndrome
•
The management of infertility in tertiary care Source: Royal College of Obstetricians and Gynaecologists - Medical Specialty Society; 2000 January; 121 pages http://www.guideline.gov/summary/summary.aspx?doc_id=2555&nbr=1781&a mp;string=male+AND+Turner+AND+syndrome 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
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ongoing basis. Your search will produce a list of various documents, all of which will relate in some way to noonan 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 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: •
AOL: http://search.aol.com/cat.adp?id=168&layer=&from=subcats
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Family Village: http://www.familyvillage.wisc.edu/specific.htm
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Google: http://directory.google.com/Top/Health/Conditions_and_Diseases/
•
Med Help International: http://www.medhelp.org/HealthTopics/A.html
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Open Directory Project: http://dmoz.org/Health/Conditions_and_Diseases/
•
Yahoo.com: http://dir.yahoo.com/Health/Diseases_and_Conditions/
•
WebMDHealth: http://my.webmd.com/health_topics
Finding Associations There are several Internet directories that provide lists of medical associations with information on or resources relating to noonan syndrome. By consulting all of associations listed in this chapter, you will have nearly exhausted all sources for patient associations concerned with noonan 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 noonan 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.
Patient Resources 63
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 “noonan 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 “noonan 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 option “Organization Resource Sheet.” Type “noonan 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 “noonan 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.20
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
20
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)21: •
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)
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Arizona: Samaritan Regional Medical Center: The Learning Center (Samaritan Health System, Phoenix, Arizona), http://www.samaritan.edu/library/bannerlibs.htm
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California: Kris Kelly Health Information Center (St. Joseph Health System, Humboldt), http://www.humboldt1.com/~kkhic/index.html
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California: Community Health Library of Los Gatos, http://www.healthlib.org/orgresources.html
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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
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California: Gateway Health Library (Sutter Gould Medical Foundation)
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California: Health Library (Stanford University Medical Center), http://wwwmed.stanford.edu/healthlibrary/
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California: Patient Education Resource Center - Health Information and Resources (University of California, San Francisco), http://sfghdean.ucsf.edu/barnett/PERC/default.asp
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California: Redwood Health Library (Petaluma Health Care District), http://www.phcd.org/rdwdlib.html
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California: Los Gatos PlaneTree Health Library, http://planetreesanjose.org/
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California: Sutter Resource Library (Sutter Hospitals Foundation, Sacramento), http://suttermedicalcenter.org/library/
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California: Health Sciences Libraries (University of California, Davis), http://www.lib.ucdavis.edu/healthsci/
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California: ValleyCare Health Library & Ryan Comer Cancer Resource Center (ValleyCare Health System, Pleasanton), http://gaelnet.stmarysca.edu/other.libs/gbal/east/vchl.html
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California: Washington Community Health Resource Library (Fremont), http://www.healthlibrary.org/
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Colorado: William V. Gervasini Memorial Library (Exempla Healthcare), http://www.saintjosephdenver.org/yourhealth/libraries/
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Connecticut: Hartford Hospital Health Science Libraries (Hartford Hospital), http://www.harthosp.org/library/
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Connecticut: Healthnet: Connecticut Consumer Health Information Center (University of Connecticut Health Center, Lyman Maynard Stowe Library), http://library.uchc.edu/departm/hnet/
21
Abstracted from http://www.nlm.nih.gov/medlineplus/libraries.html.
Finding Medical Libraries 67
•
Connecticut: Waterbury Hospital Health Center Library (Waterbury Hospital, Waterbury), http://www.waterburyhospital.com/library/consumer.shtml
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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
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Delaware: Lewis B. Flinn Library (Delaware Academy of Medicine, Wilmington), http://www.delamed.org/chls.html
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Georgia: Family Resource Library (Medical College of Georgia, Augusta), http://cmc.mcg.edu/kids_families/fam_resources/fam_res_lib/frl.htm
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Georgia: Health Resource Center (Medical Center of Central Georgia, Macon), http://www.mccg.org/hrc/hrchome.asp
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Hawaii: Hawaii Medical Library: Consumer Health Information Service (Hawaii Medical Library, Honolulu), http://hml.org/CHIS/
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Idaho: DeArmond Consumer Health Library (Kootenai Medical Center, Coeur d’Alene), http://www.nicon.org/DeArmond/index.htm
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Illinois: Health Learning Center of Northwestern Memorial Hospital (Chicago), http://www.nmh.org/health_info/hlc.html
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Illinois: Medical Library (OSF Saint Francis Medical Center, Peoria), http://www.osfsaintfrancis.org/general/library/
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Kentucky: Medical Library - Services for Patients, Families, Students & the Public (Central Baptist Hospital, Lexington), http://www.centralbap.com/education/community/library.cfm
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Kentucky: University of Kentucky - Health Information Library (Chandler Medical Center, Lexington), http://www.mc.uky.edu/PatientEd/
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Louisiana: Alton Ochsner Medical Foundation Library (Alton Ochsner Medical Foundation, New Orleans), http://www.ochsner.org/library/
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Louisiana: Louisiana State University Health Sciences Center Medical LibraryShreveport, http://lib-sh.lsuhsc.edu/
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Maine: Franklin Memorial Hospital Medical Library (Franklin Memorial Hospital, Farmington), http://www.fchn.org/fmh/lib.htm
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Maine: Gerrish-True Health Sciences Library (Central Maine Medical Center, Lewiston), http://www.cmmc.org/library/library.html
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Maine: Hadley Parrot Health Science Library (Eastern Maine Healthcare, Bangor), http://www.emh.org/hll/hpl/guide.htm
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Maine: Maine Medical Center Library (Maine Medical Center, Portland), http://www.mmc.org/library/
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Maine: Parkview Hospital (Brunswick), http://www.parkviewhospital.org/
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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/
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Manitoba, Canada: Consumer & Patient Health Information Service (University of Manitoba Libraries), http://www.umanitoba.ca/libraries/units/health/reference/chis.html
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Manitoba, Canada: J.W. Crane Memorial Library (Deer Lodge Centre, Winnipeg), http://www.deerlodge.mb.ca/crane_library/about.asp
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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
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Massachusetts: Baystate Medical Center Library (Baystate Health System), http://www.baystatehealth.com/1024/
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Massachusetts: Boston University Medical Center Alumni Medical Library (Boston University Medical Center), http://med-libwww.bu.edu/library/lib.html
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Massachusetts: Lowell General Hospital Health Sciences Library (Lowell General Hospital, Lowell), http://www.lowellgeneral.org/library/HomePageLinks/WWW.htm
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Massachusetts: Paul E. Woodard Health Sciences Library (New England Baptist Hospital, Boston), http://www.nebh.org/health_lib.asp
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Massachusetts: St. Luke’s Hospital Health Sciences Library (St. Luke’s Hospital, Southcoast Health System, New Bedford), http://www.southcoast.org/library/
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Massachusetts: Treadwell Library Consumer Health Reference Center (Massachusetts General Hospital), http://www.mgh.harvard.edu/library/chrcindex.html
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Massachusetts: UMass HealthNet (University of Massachusetts Medical School, Worchester), http://healthnet.umassmed.edu/
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Michigan: Botsford General Hospital Library - Consumer Health (Botsford General Hospital, Library & Internet Services), http://www.botsfordlibrary.org/consumer.htm
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Michigan: Helen DeRoy Medical Library (Providence Hospital and Medical Centers), http://www.providence-hospital.org/library/
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Michigan: Marquette General Hospital - Consumer Health Library (Marquette General Hospital, Health Information Center), http://www.mgh.org/center.html
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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
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Michigan: Sladen Library & Center for Health Information Resources - Consumer Health Information (Detroit), http://www.henryford.com/body.cfm?id=39330
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Montana: Center for Health Information (St. Patrick Hospital and Health Sciences Center, Missoula)
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National: Consumer Health Library Directory (Medical Library Association, Consumer and Patient Health Information Section), http://caphis.mlanet.org/directory/index.html
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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 69
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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
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New Hampshire: Dartmouth Biomedical Libraries (Dartmouth College Library, Hanover), http://www.dartmouth.edu/~biomed/resources.htmld/conshealth.htmld/
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New Jersey: Consumer Health Library (Rahway Hospital, Rahway), http://www.rahwayhospital.com/library.htm
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New Jersey: Dr. Walter Phillips Health Sciences Library (Englewood Hospital and Medical Center, Englewood), http://www.englewoodhospital.com/links/index.htm
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New Jersey: Meland Foundation (Englewood Hospital and Medical Center, Englewood), http://www.geocities.com/ResearchTriangle/9360/
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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/
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New York: Health Sciences Library (Long Island Jewish Medical Center, New Hyde Park), http://www.lij.edu/library/library.html
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New York: ViaHealth Medical Library (Rochester General Hospital), http://www.nyam.org/library/
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Ohio: Consumer Health Library (Akron General Medical Center, Medical & Consumer Health Library), http://www.akrongeneral.org/hwlibrary.htm
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Oklahoma: The Health Information Center at Saint Francis Hospital (Saint Francis Health System, Tulsa), http://www.sfh-tulsa.com/services/healthinfo.asp
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Oregon: Planetree Health Resource Center (Mid-Columbia Medical Center, The Dalles), http://www.mcmc.net/phrc/
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Pennsylvania: Community Health Information Library (Milton S. Hershey Medical Center, Hershey), http://www.hmc.psu.edu/commhealth/
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Pennsylvania: Community Health Resource Library (Geisinger Medical Center, Danville), http://www.geisinger.edu/education/commlib.shtml
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Pennsylvania: HealthInfo Library (Moses Taylor Hospital, Scranton), http://www.mth.org/healthwellness.html
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Pennsylvania: Hopwood Library (University of Pittsburgh, Health Sciences Library System, Pittsburgh), http://www.hsls.pitt.edu/guides/chi/hopwood/index_html
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Pennsylvania: Koop Community Health Information Center (College of Physicians of Philadelphia), http://www.collphyphil.org/kooppg1.shtml
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Pennsylvania: Learning Resources Center - Medical Library (Susquehanna Health System, Williamsport), http://www.shscares.org/services/lrc/index.asp
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Pennsylvania: Medical Library (UPMC Health System, Pittsburgh), http://www.upmc.edu/passavant/library.htm
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Quebec, Canada: Medical Library (Montreal General Hospital), http://www.mghlib.mcgill.ca/
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South Dakota: Rapid City Regional Hospital Medical Library (Rapid City Regional Hospital), http://www.rcrh.org/Services/Library/Default.asp
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Texas: Houston HealthWays (Houston Academy of Medicine-Texas Medical Center Library), http://hhw.library.tmc.edu/
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Washington: Community Health Library (Kittitas Valley Community Hospital), http://www.kvch.com/
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Washington: Southwest Washington Medical Center Library (Southwest Washington Medical Center, Vancouver), http://www.swmedicalcenter.com/body.cfm?id=72
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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
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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/
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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 noonan syndrome: •
Basic Guidelines for Noonan Syndrome Noonan syndrome Web site: http://www.nlm.nih.gov/medlineplus/ency/article/001656.htm
•
Signs & Symptoms for Noonan Syndrome Hearing loss Web site: http://www.nlm.nih.gov/medlineplus/ency/article/003044.htm Low-set ears Web site: http://www.nlm.nih.gov/medlineplus/ency/article/003303.htm Pectus carinatum Web site: http://www.nlm.nih.gov/medlineplus/ency/article/003321.htm Short stature Web site: http://www.nlm.nih.gov/medlineplus/ency/article/003271.htm
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Diagnostics and Tests for Noonan Syndrome Chest X-ray Web site: http://www.nlm.nih.gov/medlineplus/ency/article/003804.htm ECG Web site: http://www.nlm.nih.gov/medlineplus/ency/article/003868.htm X-ray Web site: http://www.nlm.nih.gov/medlineplus/ency/article/003337.htm
•
Background Topics for Noonan Syndrome Heart disease Web site: http://www.nlm.nih.gov/medlineplus/ency/article/000147.htm Penis Web site: http://www.nlm.nih.gov/medlineplus/ency/article/002279.htm Testicles Web site: http://www.nlm.nih.gov/medlineplus/ency/article/002334.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
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MEL-Michigan Electronic Library List of Online Health and Medical Dictionaries (Michigan Electronic Library): http://mel.lib.mi.us/health/health-dictionaries.html
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Patient Education: Glossaries (DMOZ Open Directory Project): http://dmoz.org/Health/Education/Patient_Education/Glossaries/
•
Web of Online Dictionaries (Bucknell University): http://www.yourdictionary.com/diction5.html#medicine
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NOONAN SYNDROME DICTIONARY The definitions below are derived from official public sources, including the National Institutes of Health [NIH] and the European Union [EU]. Abdominal: Having to do with the abdomen, which is the part of the body between the chest and the hips that contains the pancreas, stomach, intestines, liver, gallbladder, and other organs. [NIH] Ablation: The removal of an organ by surgery. [NIH] Abscess: A localized, circumscribed collection of pus. [NIH] Acute lymphoblastic leukemia: ALL. A quickly progressing disease in which too many immature white blood cells called lymphoblasts are found in the blood and bone marrow. Also called acute lymphocytic leukemia. [NIH] Acute lymphocytic leukemia: ALL. A quickly progressing disease in which too many immature white blood cells called lymphoblasts are found in the blood and bone marrow. Also called acute lymphoblastic leukemia. [NIH] Adrenergic: Activated by, characteristic of, or secreting epinephrine or substances with similar activity; the term is applied to those nerve fibres that liberate norepinephrine at a synapse when a nerve impulse passes, i.e., the sympathetic fibres. [EU] Airway: A device for securing unobstructed passage of air into and out of the lungs during general anesthesia. [NIH] Albinism: General term for a number of inherited defects of amino acid metabolism in which there is a deficiency or absence of pigment in the eyes, skin, or hair. [NIH] Algorithms: A procedure consisting of a sequence of algebraic formulas and/or logical steps to calculate or determine a given task. [NIH] Alleles: Mutually exclusive forms of the same gene, occupying the same locus on homologous chromosomes, and governing the same biochemical and developmental process. [NIH] Alternative medicine: Practices not generally recognized by the medical community as 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] Ameliorating: A changeable condition which prevents the consequence of a failure or accident from becoming as bad as it otherwise would. [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] Amino Acids: Organic compounds that generally contain an amino (-NH2) and a carboxyl (COOH) group. Twenty alpha-amino acids are the subunits which are polymerized to form proteins. [NIH] Amino Acids: Organic compounds that generally contain an amino (-NH2) and a carboxyl (COOH) group. Twenty alpha-amino acids are the subunits which are polymerized to form proteins. [NIH] Anaesthesia: Loss of feeling or sensation. Although the term is used for loss of tactile
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sensibility, or of any of the other senses, it is applied especially to loss of the sensation of pain, as it is induced to permit performance of surgery or other painful procedures. [EU] Analog: In chemistry, a substance that is similar, but not identical, to another. [NIH] Anatomical: Pertaining to anatomy, or to the structure of the organism. [EU] Anemia: A reduction in the number of circulating erythrocytes or in the quantity of hemoglobin. [NIH] Anesthesia: A state characterized by loss of feeling or sensation. This depression of nerve function is usually the result of pharmacologic action and is induced to allow performance of surgery or other painful procedures. [NIH] Angina: Chest pain that originates in the heart. [NIH] Angina Pectoris: The symptom of paroxysmal pain consequent to myocardial ischemia usually of distinctive character, location and radiation, and provoked by a transient stressful situation during which the oxygen requirements of the myocardium exceed the capacity of the coronary circulation to supply it. [NIH] Angiokeratoma: A vascular, horny neoplasm of the skin characterized by telangiectasis and secondary epithelial changes including acanthosis and hyperkeratosis. [NIH] Anomalies: Birth defects; abnormalities. [NIH] Anterior chamber: The space in front of the iris and behind the cornea. [NIH] Antibacterial: A substance that destroys bacteria or suppresses their growth or reproduction. [EU] Antibiotic: A drug used to treat infections caused by bacteria and other microorganisms. [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 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] 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] Anti-inflammatory: Having to do with reducing inflammation. [NIH] 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 Valve: The valve between the left ventricle and the ascending aorta which prevents backflow into the left ventricle. [NIH] Arterial: Pertaining to an artery or to the arteries. [EU] Arteries: The vessels carrying blood away from the heart. [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.
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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] Atrial: Pertaining to an atrium. [EU] Atrioventricular: Pertaining to an atrium of the heart and to a ventricle. [EU] Atrium: A chamber; used in anatomical nomenclature to designate a chamber affording entrance to another structure or organ. Usually used alone to designate an atrium of the heart. [EU] 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] Autoimmune disease: A condition in which the body recognizes its own tissues as foreign and directs an immune response against them. [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] Bacteriophage: A virus whose host is a bacterial cell; A virus that exclusively infects bacteria. It generally has a protein coat surrounding the genome (DNA or RNA). One of the coliphages most extensively studied is the lambda phage, which is also one of the most important. [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] Basement Membrane: Ubiquitous supportive tissue adjacent to epithelium and around smooth and striated muscle cells. This tissue contains intrinsic macromolecular components such as collagen, laminin, and sulfated proteoglycans. As seen by light microscopy one of its subdivisions is the basal (basement) lamina. [NIH] Bewilderment: Impairment or loss of will power. [NIH] Bilateral: Affecting both the right and left side of body. [NIH] Biochemical: Relating to biochemistry; characterized by, produced by, or involving chemical reactions in living organisms. [EU] 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] 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
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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] Bladder: The organ that stores urine. [NIH] Blood Platelets: Non-nucleated disk-shaped cells formed in the megakaryocyte and found in the blood of all mammals. They are mainly involved in blood coagulation. [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] 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] Brain Neoplasms: Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain. [NIH] Branch: Most commonly used for branches of nerves, but applied also to other structures. [NIH]
Bronchi: The larger air passages of the lungs arising from the terminal bifurcation of the trachea. [NIH] Buccal: Pertaining to or directed toward the cheek. In dental anatomy, used to refer to the buccal surface of a tooth. [EU] Bullous: Pertaining to or characterized by bullae. [EU] Cafe-au-Lait Spots: Light brown pigmented macules associated with neurofibromatosis and Albright's syndrome (see fibrous dysplasia, polyostotic). [NIH] Calcineurin: A calcium- and calmodulin-binding protein present in highest concentrations in the central nervous system. Calcineurin is composed of two subunits. A catalytic subunit, calcineurin A, and a regulatory subunit, calcineurin B, with molecular weights of about 60 kD and 19 kD, respectively. Calcineurin has been shown to dephosphorylate a number of phosphoproteins including histones, myosin light chain, and the regulatory subunit of cAMP-dependent protein kinase. It is involved in the regulation of signal transduction and is the target of an important class of immunophilin-immunosuppressive drug complexes in T-lymphocytes that act by inhibiting T-cell activation. EC 3.1.3.-. [NIH] Calcium: A basic element found in nearly all organized tissues. It is a member of the alkaline earth family of metals with the atomic symbol Ca, atomic number 20, and atomic weight 40. Calcium is the most abundant mineral in the body and combines with phosphorus to form calcium phosphate in the bones and teeth. It is essential for the normal functioning of nerves and muscles and plays a role in blood coagulation (as factor IV) and in many enzymatic processes. [NIH]
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Calmodulin: A heat-stable, low-molecular-weight activator protein found mainly in the brain and heart. The binding of calcium ions to this protein allows this protein to bind to cyclic nucleotide phosphodiesterases and to adenyl cyclase with subsequent activation. Thereby this protein modulates cyclic AMP and cyclic GMP levels. [NIH] 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] Cardiac catheterization: A procedure in which a thin, hollow tube is inserted into a blood vessel. The tube is then advanced through the vessel into the heart, enabling a physician to study the heart and its pumping activity. [NIH] Cardiomyopathy: A general diagnostic term designating primary myocardial disease, often of obscure or unknown etiology. [EU] Cardioselective: Having greater activity on heart tissue than on other tissue. [EU] Cardiovascular: Having to do with the heart and blood vessels. [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] 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] Case series: A group or series of case reports involving patients who were given similar treatment. Reports of case series usually contain detailed information about the individual patients. This includes demographic information (for example, age, gender, ethnic origin) and information on diagnosis, treatment, response to treatment, and follow-up after treatment. [NIH] Catecholamines: A general class of ortho-dihydroxyphenylalkylamines derived from tyrosine. [NIH] Catheterization: Use or insertion of a tubular device into a duct, blood vessel, hollow organ, or body cavity for injecting or withdrawing fluids for diagnostic or therapeutic purposes. It differs from intubation in that the tube here is used to restore or maintain patency in obstructions. [NIH] Caudal: Denoting a position more toward the cauda, or tail, than some specified point of reference; same as inferior, in human anatomy. [EU] Cavernous Hemangioma: Proptosis, oedema of the conjunctiva and eyelid, together with paralysis of the oculomotor cranial nerves. [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 Differentiation: Progressive restriction of the developmental potential and increasing specialization of function which takes place during the development of the embryo and leads to the formation of specialized cells, tissues, and organs. [NIH] Cell Division: The fission of a cell. [NIH] Cell proliferation: An increase in the number of cells as a result of cell growth and cell division. [NIH] Cell Survival: The span of viability of a cell characterized by the capacity to perform certain
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functions such as metabolism, growth, reproduction, some form of responsiveness, and adaptability. [NIH] Central Nervous System: The main information-processing organs of the nervous system, consisting of the brain, spinal cord, and meninges. [NIH] Central Nervous System Infections: Pathogenic infections of the brain, spinal cord, and meninges. DNA virus infections; RNA virus infections; bacterial infections; mycoplasma infections; Spirochaetales infections; fungal infections; protozoan infections; helminthiasis; and prion diseases may involve the central nervous system as a primary or secondary process. [NIH] Cerebellar: Pertaining to the cerebellum. [EU] Cerebral: Of or pertaining of the cerebrum or the brain. [EU] Cerebral Infarction: The formation of an area of necrosis in the cerebrum caused by an insufficiency of arterial or venous blood flow. Infarcts of the cerebrum are generally classified by hemisphere (i.e., left vs. right), lobe (e.g., frontal lobe infarction), arterial distribution (e.g., infarction, anterior cerebral artery), and etiology (e.g., embolic infarction). [NIH]
Cerebrospinal: Pertaining to the brain and spinal cord. [EU] Cerebrospinal fluid: CSF. The fluid flowing around the brain and spinal cord. Cerebrospinal fluid is produced in the ventricles in the brain. [NIH] 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] Cherubism: A fibro-osseous hereditary disease of the jaws. The swollen jaws and raised eyes give a cherubic appearance; multiple radiolucencies are evident upon radiographic examination. [NIH] Chorioretinitis: Inflammation of the choroid in which the sensory retina becomes edematous and opaque. The inflammatory cells and exudate may burst through the sensory retina to cloud the vitreous body. [NIH] Choroid: The thin, highly vascular membrane covering most of the posterior of the eye between the retina and sclera. [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] Chromosome Abnormalities: Defects in the structure or number of chromosomes resulting in structural aberrations or manifesting as disease. [NIH] Chromosome Banding: Staining of bands, or chromosome segments, allowing the precise identification of individual chromosomes or parts of chromosomes. Applications include the determination of chromosome rearrangements in malformation syndromes and cancer, the chemistry of chromosome segments, chromosome changes during evolution, and, in conjunction with cell hybridization studies, chromosome mapping. [NIH] Chromosome Mapping: Any method used for determining the location of and relative distances between genes on a chromosome. [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
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transplantation to replace the work of the kidneys. [NIH] Cicatrix: The formation of new tissue in the process of wound healing. [NIH] Clinical study: A research study in which patients receive treatment in a clinic or other medical facility. Reports of clinical studies can contain results for single patients (case reports) or many patients (case series or clinical trials). [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] 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] Clubbing: A proliferative change in the soft tissues about the terminal phalanges of the fingers or toes, with no constant osseous changes. [NIH] Coagulation: 1. The process of clot formation. 2. In colloid chemistry, the solidification of a sol into a gelatinous mass; an alteration of a disperse phase or of a dissolved solid which causes the separation of the system into a liquid phase and an insoluble mass called the clot or curd. Coagulation is usually irreversible. 3. In surgery, the disruption of tissue by physical means to form an amorphous residuum, as in electrocoagulation and photocoagulation. [EU] Cofactor: A substance, microorganism or environmental factor that activates or enhances the action of another entity such as a disease-causing agent. [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] Coloboma: Congenital anomaly in which some of the structures of the eye are absent due to incomplete fusion of the fetal intraocular fissure during gestation. [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
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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 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] Complete remission: The disappearance of all signs of cancer. Also called a complete response. [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] Conception: The onset of pregnancy, marked by implantation of the blastocyst; the formation of a viable zygote. [EU] Confusion: A mental state characterized by bewilderment, emotional disturbance, lack of clear thinking, and perceptual disorientation. [NIH] Conjunctiva: The mucous membrane that lines the inner surface of the eyelids and the anterior part of the sclera. [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] 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] 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] 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 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] Cortex: The outer layer of an organ or other body structure, as distinguished from the internal substance. [EU]
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Cortical: Pertaining to or of the nature of a cortex or bark. [EU] Cortisone: A natural steroid hormone produced in the adrenal gland. It can also be made in the laboratory. Cortisone reduces swelling and can suppress immune responses. [NIH] Cranial: Pertaining to the cranium, or to the anterior (in animals) or superior (in humans) end of the body. [EU] Cranial Nerves: Twelve pairs of nerves that carry general afferent, visceral afferent, special afferent, somatic efferent, and autonomic efferent fibers. [NIH] Craniocerebral Trauma: Traumatic injuries involving the cranium and intracranial structures (i.e., brain; cranial nerves; meninges; and other structures). Injuries may be classified by whether or not the skull is penetrated (i.e., penetrating vs. nonpenetrating) or whether there is an associated hemorrhage. [NIH] Creatine: An amino acid that occurs in vertebrate tissues and in urine. In muscle tissue, creatine generally occurs as phosphocreatine. Creatine is excreted as creatinine in the urine. [NIH]
Creatinine: A compound that is excreted from the body in urine. Creatinine levels are measured to monitor kidney function. [NIH] Cryptorchidism: A condition in which one or both testicles fail to move from the abdomen, where they develop before birth, into the scrotum. Cryptorchidism may increase the risk for development of testicular cancer. Also called undescended testicles. [NIH] Cutaneous: Having to do with the skin. [NIH] Cyanosis: A bluish or purplish discoloration of the skin and mucous membranes due to an increase in the amount of deoxygenated hemoglobin in the blood or a structural defect in the hemoglobin molecule. [NIH] Cyclic: Pertaining to or occurring in a cycle or cycles; the term is applied to chemical compounds that contain a ring of atoms in the nucleus. [EU] Cytokine: Small but highly potent protein that modulates the activity of many cell types, including T and B cells. [NIH] Cytotoxic: Cell-killing. [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] Deletion: A genetic rearrangement through loss of segments of DNA (chromosomes), bringing sequences, which are normally separated, into close proximity. [NIH] Depolarization: The process or act of neutralizing polarity. In neurophysiology, the reversal of the resting potential in excitable cell membranes when stimulated, i.e., the tendency of the cell membrane potential to become positive with respect to the potential outside the cell. [EU] Diagnostic procedure: A method used to identify a disease. [NIH] Diathesis: A constitution or condition of the body which makes the tissues react in special ways to certain extrinsic stimuli and thus tends to make the person more than usually susceptible to certain diseases. [EU] 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]
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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] Disorientation: The loss of proper bearings, or a state of mental confusion as to time, place, or identity. [EU] Distal: Remote; farther from any point of reference; opposed to proximal. In dentistry, used to designate a position on the dental arch farther from the median line of the jaw. [EU] 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] Dwarfism: The condition of being undersized as a result of premature arrest of skeletal growth. It may be caused by insufficient secretion of growth hormone (pituitary dwarfism). [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] Electrocoagulation: Electrosurgical procedures used to treat hemorrhage (e.g., bleeding ulcers) and to ablate tumors, mucosal lesions, and refractory arrhythmias. [NIH] Embolus: Bit of foreign matter which enters the blood stream at one point and is carried until it is lodged or impacted in an artery and obstructs it. It may be a blood clot, an air bubble, fat or other tissue, or clumps of bacteria. [NIH] Embryo: The prenatal stage of mammalian development characterized by rapid morphological changes and the differentiation of basic structures. [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] 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]
Enzyme: A protein that speeds up chemical reactions in the body. [NIH] Epidemic: Occurring suddenly in numbers clearly in excess of normal expectancy; said especially of infectious diseases but applied also to any disease, injury, or other healthrelated event occurring in such outbreaks. [EU] Epidermal: Pertaining to or resembling epidermis. Called also epidermic or epidermoid. [EU] Epidermal Growth Factor: A 6 kD polypeptide growth factor initially discovered in mouse submaxillary glands. Human epidermal growth factor was originally isolated from urine based on its ability to inhibit gastric secretion and called urogastrone. epidermal growth factor exerts a wide variety of biological effects including the promotion of proliferation and differentiation of mesenchymal and epithelial cells. [NIH] Epidermis: Nonvascular layer of the skin. It is made up, from within outward, of five layers: 1) basal layer (stratum basale epidermidis); 2) spinous layer (stratum spinosum
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epidermidis); 3) granular layer (stratum granulosum epidermidis); 4) clear layer (stratum lucidum epidermidis); and 5) horny layer (stratum corneum epidermidis). [NIH] Epinephrine: The active sympathomimetic hormone from the adrenal medulla in most species. It stimulates both the alpha- and beta- adrenergic systems, causes systemic vasoconstriction and gastrointestinal relaxation, stimulates the heart, and dilates bronchi and cerebral vessels. It is used in asthma and cardiac failure and to delay absorption of local anesthetics. [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] Epithelium: One or more layers of epithelial cells, supported by the basal lamina, which covers the inner or 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] Essential Tremor: A rhythmic, involuntary, purposeless, oscillating movement resulting from the alternate contraction and relaxation of opposing groups of muscles. [NIH] Exon: The part of the DNA that encodes the information for the actual amino acid sequence of the protein. In many eucaryotic genes, the coding sequences consist of a series of exons alternating with intron sequences. [NIH] Extracellular: Outside a cell or cells. [EU] Extracellular Matrix: A meshwork-like substance found within the extracellular space and in association with the basement membrane of the cell surface. It promotes cellular proliferation and provides a supporting structure to which cells or cell lysates in culture dishes adhere. [NIH] Extracellular Space: Interstitial space between cells, occupied by fluid as well as amorphous and fibrous substances. [NIH] 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] 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] Fetus: The developing offspring from 7 to 8 weeks after conception until birth. [NIH] Fibrin: A protein derived from fibrinogen in the presence of thrombin, which forms part of the blood clot. [NIH] Fibroblasts: Connective tissue cells which secrete an extracellular matrix rich in collagen and other macromolecules. [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] Foramen: A natural hole of perforation, especially one in a bone. [NIH] Gallbladder: The pear-shaped organ that sits below the liver. Bile is concentrated and stored in the gallbladder. [NIH]
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Gastric: Having to do with the stomach. [NIH] Gastrin: A hormone released after eating. Gastrin causes the stomach to produce more acid. [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]
Genetic Engineering: Directed modification of the gene complement of a living organism by such techniques as altering the DNA, substituting genetic material by means of a virus, transplanting whole nuclei, transplanting cell hybrids, etc. [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] 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] Glucocorticoid: A compound that belongs to the family of compounds called corticosteroids (steroids). Glucocorticoids affect metabolism and have anti-inflammatory and immunosuppressive effects. They may be naturally produced (hormones) or synthetic (drugs). [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 therapeutically in fluid and nutrient replacement. [NIH] Governing Board: The group in which legal authority is vested for the control of healthrelated institutions and organizations. [NIH] Granulocytes: Leukocytes with abundant granules in the cytoplasm. They are divided into three groups: neutrophils, eosinophils, and basophils. [NIH] Granuloma: A relatively small nodular inflammatory lesion containing grouped mononuclear phagocytes, caused by infectious and noninfectious agents. [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] Headache: Pain in the cranial region that may occur as an isolated and benign symptom or as a manifestation of a wide variety of conditions including subarachnoid hemorrhage; craniocerebral trauma; central nervous system infections; intracranial hypertension; and other disorders. In general, recurrent headaches that are not associated with a primary disease process are referred to as headache disorders (e.g., migraine). [NIH] Heart attack: A seizure of weak or abnormal functioning of the heart. [NIH] Heat Stroke: A condition characterized by cessation of sweating, hot dry skin, delirium, collapse, and coma and resulting from prolonged exposure to high environmental temperature. [NIH] Hemoglobin: One of the fractions of glycosylated hemoglobin A1c. Glycosylated hemoglobin is formed when linkages of glucose and related monosaccharides bind to
Dictionary 85
hemoglobin A and its concentration represents the average blood glucose level over the 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] Hemoglobin M: A group of abnormal hemoglobins in which amino acid substitutions take place in either the alpha or beta chains but near the heme iron. This results in facilitated oxidation of the hemoglobin to yield excess methemoglobin which leads to cyanosis. [NIH] Hemoglobinuria: The presence of free hemoglobin in the urine. [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]
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 therapy: Treatment of cancer by removing, blocking, or adding hormones. Also called endocrine therapy. [NIH] Host: Any animal that receives a transplanted graft. [NIH] Hybridization: The genetic process of crossbreeding to produce a hybrid. Hybrid nucleic acids can be formed by nucleic acid hybridization of DNA and RNA molecules. Protein hybridization allows for hybrid proteins to be formed from polypeptide chains. [NIH] Hydrocephalus: Excessive accumulation of cerebrospinal fluid within the cranium which may be associated with dilation of cerebral ventricles, intracranial hypertension; headache; lethargy; urinary incontinence; and ataxia (and in infants macrocephaly). This condition may be caused by obstruction of cerebrospinal fluid pathways due to neurologic abnormalities, intracranial hemorrhages; central nervous system infections; brain neoplasms; craniocerebral trauma; and other conditions. Impaired resorption of cerebrospinal fluid from the arachnoid villi results in a communicating form of hydrocephalus. Hydrocephalus ex-vacuo refers to ventricular dilation that occurs as a result of brain substance loss from cerebral infarction and other conditions. [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] Hyperkeratosis: 1. Hypertrophy of the corneous layer of the skin. 2a. Any of various conditions marked by hyperkeratosis. 2b. A disease of cattle marked by thickening and wringling of the hide and formation of papillary outgrowths on the buccal mucous
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membranes, often accompanied by watery discharge from eyes and nose, diarrhoea, loss of condition, and abortion of pregnant animals, and now believed to result from ingestion of the chlorinated naphthalene of various lubricating oils. [EU] Hyperplasia: An increase in the number of cells in a tissue or organ, not due to tumor formation. It differs from hypertrophy, which is an increase in bulk without an increase in the number of cells. [NIH] Hyperpyrexia: Exceptionally high fever either in comparison of the fever usually accompanying a particular disease or absolutely (as in heat stroke). [EU] Hypertelorism: Abnormal increase in the interorbital distance due to overdevelopment of the lesser wings of the sphenoid. [NIH] Hypertension: Persistently high arterial blood pressure. Currently accepted threshold levels are 140 mm Hg systolic and 90 mm Hg diastolic pressure. [NIH] Hyperthyroidism: Excessive functional activity of the thyroid gland. [NIH] Hypertrophic cardiomyopathy: Heart muscle disease that leads to thickening of the heart walls, interfering with the heart's ability to fill with and pump blood. [NIH] Hypertrophy: General increase in bulk of a part or organ, not due to tumor formation, nor to an increase in the number of cells. [NIH] Id: The part of the personality structure which harbors the unconscious instinctive desires and strivings of the individual. [NIH] Immune response: The activity of the immune system against foreign substances (antigens). [NIH]
Immune Sera: Serum that contains antibodies. It is obtained from an animal that has been immunized either by antigen injection or infection with microorganisms containing the antigen. [NIH] Immunization: Deliberate stimulation of the host's immune response. Active immunization involves administration of antigens or immunologic adjuvants. Passive immunization involves administration of immune sera or lymphocytes or their extracts (e.g., transfer factor, immune RNA) or transplantation of immunocompetent cell producing tissue (thymus or bone marrow). [NIH] Immunodeficiency: The decreased ability of the body to fight infection and disease. [NIH] Immunologic: The ability of the antibody-forming system to recall a previous experience with an antigen and to respond to a second exposure with the prompt production of large amounts of antibody. [NIH] Immunophilin: A drug for the treatment of Parkinson's disease. [NIH] Immunosuppressive: Describes the ability to lower immune system responses. [NIH] Impairment: In the context of health experience, an impairment is any loss or abnormality of psychological, physiological, or anatomical structure or function. [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] Incontinence: Inability to control the flow of urine from the bladder (urinary incontinence) or the escape of stool from the rectum (fecal incontinence). [NIH] 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]
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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] Innervation: 1. The distribution or supply of nerves to a part. 2. The supply of nervous energy or of nerve stimulus sent to a part. [EU] Interorbital: Between the orbits. [NIH] Intestinal: Having to do with the intestines. [NIH] Intestines: The section of the alimentary canal from the stomach to the anus. It includes the large intestine and small intestine. [NIH] Intracellular: Inside a cell. [NIH] Intracranial Hemorrhages: Bleeding within the intracranial cavity, including hemorrhages in the brain and within the cranial epidural, subdural, and subarachnoid spaces. [NIH] Intracranial Hypertension: Increased pressure within the cranial vault. This may result from several conditions, including hydrocephalus; brain edema; intracranial masses; severe systemic hypertension; pseudotumor cerebri; and other disorders. [NIH] Intraocular: Within the eye. [EU] Involuntary: Reaction occurring without intention or volition. [NIH] Iris: The most anterior portion of the uveal layer, separating the anterior chamber from the posterior. It consists of two layers - the stroma and the pigmented epithelium. Color of the iris depends on the amount of melanin in the stroma on reflection from the pigmented epithelium. [NIH] Ischemia: Deficiency of blood in a part, due to functional constriction or actual obstruction of a blood vessel. [EU] 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] Keloid: A sharply elevated, irregularly shaped, progressively enlarging scar resulting from formation of excessive amounts of collagen in the dermis during connective tissue repair. It is differentiated from a hypertrophic scar (cicatrix, hypertrophic) in that the former does not spread to surrounding tissues. [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.
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Also called nephropathy. [NIH] Larynx: An irregularly shaped, musculocartilaginous tubular structure, lined with mucous membrane, located at the top of the trachea and below the root of the tongue and the hyoid bone. It is the essential sphincter guarding the entrance into the trachea and functioning secondarily as the organ of voice. [NIH] Lesion: An area of abnormal tissue change. [NIH] Lethargy: Abnormal drowsiness or stupor; a condition of indifference. [EU] Leukemia: Cancer of blood-forming tissue. [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] Ligands: A RNA simulation method developed by the MIT. [NIH] Linkage: 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] Liver: A large, glandular organ located in the upper abdomen. The liver cleanses the blood and aids in digestion by secreting bile. [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] 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]
Lymphangiectasis: A transient dilatation of the lymphatic vessels. [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]
Lymphoblastic: One of the most aggressive types of non-Hodgkin lymphoma. [NIH] Lymphoblasts: Interferon produced predominantly by leucocyte cells. [NIH] 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] Malabsorption: Impaired intestinal absorption of nutrients. [EU]
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Malformation: A morphologic developmental process. [EU]
defect
resulting
from
an
intrinsically
abnormal
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]
Mediator: An object or substance by which something is mediated, such as (1) a structure of the nervous system that transmits impulses eliciting a specific response; (2) a chemical substance (transmitter substance) that induces activity in an excitable tissue, such as nerve or muscle; or (3) a substance released from cells as the result of the interaction of antigen with antibody or by the action of antigen with a sensitized lymphocyte. [EU] MEDLINE: An online database of MEDLARS, the computerized bibliographic Medical Literature Analysis and Retrieval System of the National Library of Medicine. [NIH] Melanin: The substance that gives the skin its color. [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] Membrane: A very thin layer of tissue that covers a surface. [NIH] Menopause: Permanent cessation of menstruation. [NIH] Mental deficiency: A condition of arrested or incomplete development of mind from inherent causes or induced by disease or injury. [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]
Mesenchymal: Refers to cells that develop into connective tissue, blood vessels, and lymphatic tissue. [NIH] Mesoderm: The middle germ layer of the embryo. [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] Mitral Valve: The valve between the left atrium and left ventricle of the heart. [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] Mononuclear: A cell with one nucleus. [NIH] Morphogenesis: The development of the form of an organ, part of the body, or organism.
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[NIH]
Mucosa: A mucous membrane, or tunica mucosa. [EU] 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] Myenteric: On stimulation of an intestinal segment, the segment above contracts and that below relaxes. [NIH] 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] Myocardium: The muscle tissue of the heart composed of striated, involuntary muscle known as cardiac muscle. [NIH] Myosin: Chief protein in muscle and the main constituent of the thick filaments of muscle fibers. In conjunction with actin, it is responsible for the contraction and relaxation of muscles. [NIH] Myotonic Dystrophy: A condition presenting muscle weakness and wasting which may be progressive. [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] Neuroblastoma: Cancer that arises in immature nerve cells and affects mostly infants and children. [NIH] Neurologic: Having to do with nerves or the nervous system. [NIH] Neuroretinitis: Inflammation of the optic nerve head and adjacent retina. [NIH] Night Blindness: Anomaly of vision in which there is a pronounced inadequacy or complete absence of dark-adaptation. [NIH] Noonan Syndrome: A multifaceted disorder due to a basic defect of connective tissue. It is characterized by short stature, webbed neck, ptosis, skeletal malformations, hypertelorism, hormonal imbalance, cryptorchidism, multiple cardiac abnormalities (most commonly
Dictionary 91
including pulmonary valve stenosis), and some degree of mental retardation. The phenotype resembles that of Turner's syndrome; however, Noonan syndrome occurs in both males and females, and no chromosomal abnormality has been found. Nevertheless, familial studies suggest that the trait is inherited as an autosomal dominant. [NIH] Nuclear: A test of the structure, blood flow, and function of the kidneys. The doctor injects a mildly radioactive solution into an arm vein and uses x-rays to monitor its progress through the kidneys. [NIH] Nucleus: A body of specialized protoplasm found in nearly all cells and containing the chromosomes. [NIH] Occupational Therapy: The field concerned with utilizing craft or work activities in the rehabilitation of patients. Occupational therapy can also refer to the activities themselves. [NIH]
Ocular: 1. Of, pertaining to, or affecting the eye. 2. Eyepiece. [EU] Oculomotor: Cranial nerve III. It originate from the lower ventral surface of the midbrain and is classified as a motor nerve. [NIH] Oedema: The presence of abnormally large amounts of fluid in the intercellular tissue spaces of the body; usually applied to demonstrable accumulation of excessive fluid in the subcutaneous tissues. Edema may be localized, due to venous or lymphatic obstruction or to increased vascular permeability, or it may be systemic due to heart failure or renal disease. Collections of edema fluid are designated according to the site, e.g. ascites (peritoneal cavity), hydrothorax (pleural cavity), and hydropericardium (pericardial sac). Massive generalized edema is called anasarca. [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] Optic Nerve: The 2nd cranial nerve. The optic nerve conveys visual information from the retina to the brain. The nerve carries the axons of the retinal ganglion cells which sort at the optic chiasm and continue via the optic tracts to the brain. The largest projection is to the lateral geniculate nuclei; other important targets include the superior colliculi and the suprachiasmatic nuclei. Though known as the second cranial nerve, it is considered part of the central nervous system. [NIH] Osteochondrodysplasias: Abnormal development of cartilage and bone. [NIH] Ovum: A female germ cell extruded from the ovary at ovulation. [NIH] 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] Paralysis: Loss of ability to move all or part of the body. [NIH] Paroxysmal: Recurring in paroxysms (= spasms or seizures). [EU] Partial remission: The shrinking, but not complete disappearance, of a tumor in response to therapy. Also called partial response. [NIH] Particle: A tiny mass of material. [EU] Pathogenesis: The cellular events and reactions that occur in the development of disease. [NIH]
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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] Pathologies: The study of abnormality, especially the study of diseases. [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] Perforation: 1. The act of boring or piercing through a part. 2. A hole made through a part or substance. [EU] Pericarditis: Inflammation of the pericardium. [EU] Pericardium: The fibroserous sac surrounding the heart and the roots of the great vessels. [NIH]
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] Phenylalanine: An aromatic amino acid that is essential in the animal diet. It is a precursor of melanin, dopamine, noradrenalin, and thyroxine. [NIH] Phospholipases: A class of enzymes that catalyze the hydrolysis of phosphoglycerides or glycerophosphatidates. EC 3.1.-. [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] Phosphorylated: Attached to a phosphate group. [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] Photocoagulation: Using a special strong beam of light (laser) to seal off bleeding blood vessels such as in the eye. The laser can also burn away blood vessels that should not have grown in the eye. This is the main treatment for diabetic retinopathy. [NIH] Physical Therapy: The restoration of function and the prevention of disability following disease or injury with the use of light, heat, cold, water, electricity, ultrasound, and exercise. [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]
Pigment: A substance that gives color to tissue. Pigments are responsible for the color of skin, eyes, and hair. [NIH] Pigmentation: Coloration or discoloration of a part by a pigment. [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] Platelet Activation: A series of progressive, overlapping events triggered by exposure of the platelets to subendothelial tissue. These events include shape change, adhesiveness, aggregation, and release reactions. When carried through to completion, these events lead to
Dictionary 93
the formation of a stable hemostatic plug. [NIH] Platelets: A type of blood cell that helps prevent bleeding by causing blood clots to form. Also called thrombocytes. [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] Polymorphism: The occurrence together of two or more distinct forms in the same population. [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] 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] Postnatal: Occurring after birth, with reference to the newborn. [EU] Postsynaptic: Nerve potential generated by an inhibitory hyperpolarizing stimulation. [NIH] Post-translational: The cleavage of signal sequence that directs the passage of the protein through a cell or organelle membrane. [NIH] Potentiation: An overall effect of two drugs taken together which is greater than the sum of the effects of each drug taken alone. [NIH] 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] Precursor: Something that precedes. In biological processes, a substance from which another, usually more active or mature substance is formed. In clinical medicine, a sign or symptom that heralds another. [EU] Prednisolone: A glucocorticoid with the general properties of the corticosteroids. It is the drug of choice for all conditions in which routine systemic corticosteroid therapy is indicated, except adrenal deficiency states. [NIH] Prednisone: A synthetic anti-inflammatory glucocorticoid derived from cortisone. It is biologically inert and converted to prednisolone in the liver. [NIH] Prenatal: Existing or occurring before birth, with reference to the fetus. [EU] Prenatal Diagnosis: Determination of the nature of a pathological condition or disease in the postimplantation embryo, fetus, or pregnant female before birth. [NIH] 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] Probe: An instrument used in exploring cavities, or in the detection and dilatation of strictures, or in demonstrating the potency of channels; an elongated instrument for exploring or sounding body cavities. [NIH] Progression: Increase in the size of a tumor or spread of cancer in the body. [NIH] Progressive: Advancing; going forward; going from bad to worse; increasing in scope or severity. [EU] Propranolol: A widely used non-cardioselective beta-adrenergic antagonist. Propranolol is
94
Noonan Syndrome
used in the treatment or prevention of many disorders including acute myocardial infarction, arrhythmias, angina pectoris, hypertension, hypertensive emergencies, hyperthyroidism, migraine, pheochromocytoma, menopause, and anxiety. [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] 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 Conformation: The characteristic 3-dimensional shape of a protein, including the secondary, supersecondary (motifs), tertiary (domains) and quaternary structure of the peptide chain. Quaternary protein structure describes the conformation assumed by multimeric proteins (aggregates of more than one polypeptide chain). [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] Protein-Tyrosine Kinase: An enzyme that catalyzes the phosphorylation of tyrosine residues in proteins with ATP or other nucleotides as phosphate donors. EC 2.7.1.112. [NIH] Proximal: Nearest; closer to any point of reference; opposed to distal. [EU] Ptosis: 1. Prolapse of an organ or part. 2. Drooping of the upper eyelid from paralysis of the third nerve or from sympathetic innervation. [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] Pulmonary hypertension: Abnormally high blood pressure in the arteries of the lungs. [NIH] Pulmonary Valve: A valve situated at the entrance to the pulmonary trunk from the right ventricle. [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] Radioactive: Giving off radiation. [NIH] 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] 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] Refraction: A test to determine the best eyeglasses or contact lenses to correct a refractive
Dictionary 95
error (myopia, hyperopia, or astigmatism). [NIH] Regurgitation: A backward flowing, as the casting up of undigested food, or the backward flowing of blood into the heart, or between the chambers of the heart when a valve is incompetent. [EU] Remission: A decrease in or disappearance of signs and symptoms of cancer. In partial remission, some, but not all, signs and symptoms of cancer have disappeared. In complete remission, all signs and symptoms of cancer have disappeared, although there still may be cancer in the body. [NIH] Resorption: The loss of substance through physiologic or pathologic means, such as loss of dentin and cementum of a tooth, or of the alveolar process of the mandible or maxilla. [EU] Restoration: Broad term applied to any inlay, crown, bridge or complete denture which restores or replaces loss of teeth or oral tissues. [NIH] Retina: The ten-layered nervous tissue membrane of the eye. It is continuous with the optic nerve and receives images of external objects and transmits visual impulses to the brain. Its outer surface is in contact with the choroid and the inner surface with the vitreous body. The outer-most layer is pigmented, whereas the inner nine layers are transparent. [NIH] Retinitis: Inflammation of the retina. It is rarely limited to the retina, but is commonly associated with diseases of the choroid (chorioretinitis) and of the optic nerve (neuroretinitis). The disease may be confined to one eye, but since it is generally dependent on a constitutional factor, it is almost always bilateral. It may be acute in course, but as a rule it lasts many weeks or even several months. [NIH] Retinitis Pigmentosa: Hereditary, progressive degeneration of the neuroepithelium of the retina characterized by night blindness and progressive contraction of the visual field. [NIH] Retinoblastoma: An eye cancer that most often occurs in children younger than 5 years. It occurs in hereditary and nonhereditary (sporadic) forms. [NIH] Rhabdomyosarcoma: A malignant tumor of muscle tissue. [NIH] Salivary: The duct that convey saliva to the mouth. [NIH] Sclerosis: A pathological process consisting of hardening or fibrosis of an anatomical structure, often a vessel or a nerve. [NIH] Screening: Checking for disease when there are no symptoms. [NIH] Scrotum: In males, the external sac that contains the testicles. [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] 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] Seminoma: A type of cancer of the testicles. [NIH] Septal: An abscess occurring at the root of the tooth on the proximal surface. [NIH] Serum: The clear liquid part of the blood that remains after blood cells and clotting proteins have been removed. [NIH]
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Sex Determination: The biological characteristics which distinguish human beings as female or male. [NIH] Shoulder Pain: Unilateral or bilateral pain of the shoulder. It is often caused by physical activities such as work or sports participation, but may also be pathologic in origin. [NIH] Signal Transduction: The intercellular or intracellular transfer of information (biological activation/inhibition) through a signal pathway. In each signal transduction system, an activation/inhibition signal from a biologically active molecule (hormone, neurotransmitter) is mediated via the coupling of a receptor/enzyme to a second messenger system or to an ion channel. Signal transduction plays an important role in activating cellular functions, cell differentiation, and cell proliferation. Examples of signal transduction systems are the GABA-postsynaptic receptor-calcium ion channel system, the receptor-mediated T-cell activation pathway, and the receptor-mediated activation of phospholipases. Those coupled to membrane depolarization or intracellular release of calcium include the receptormediated activation of cytotoxic functions in granulocytes and the synaptic potentiation of protein kinase activation. Some signal transduction pathways may be part of larger signal transduction pathways; for example, protein kinase activation is part of the platelet activation signal pathway. [NIH] Signs and Symptoms: Clinical manifestations that can be either objective when observed by a physician, or subjective when perceived by the patient. [NIH] 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] Soft tissue: Refers to muscle, fat, fibrous tissue, blood vessels, or other supporting tissue of the body. [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] 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] Speech pathologist: A specialist who evaluates and treats people with communication and swallowing problems. Also called a speech therapist. [NIH] Sperm: The fecundating fluid of the male. [NIH]
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Sphenoid: An unpaired cranial bone with a body containing the sphenoid sinus and forming the posterior part of the medial walls of the orbits. [NIH] Spirochete: Lyme disease. [NIH] Spleen: An organ that is part of the lymphatic system. The spleen produces lymphocytes, filters the blood, stores blood cells, and destroys old blood cells. It is located on the left side of the abdomen near the stomach. [NIH] Sporadic: Neither endemic nor epidemic; occurring occasionally in a random or isolated manner. [EU] 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] 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] 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] Stroma: The middle, thickest layer of tissue in the cornea. [NIH] Subcutaneous: Beneath the skin. [NIH] Submaxillary: Four to six lymph glands, located between the lower jaw and the submandibular salivary gland. [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]
Substrate: A substance upon which an enzyme acts. [EU] Symphysis: A secondary cartilaginous joint. [NIH] Synaptic: Pertaining to or affecting a synapse (= site of functional apposition between neurons, at which an impulse is transmitted from one neuron to another by electrical or chemical means); pertaining to synapsis (= pairing off in point-for-point association of homologous chromosomes from the male and female pronuclei during the early prophase of meiosis). [EU] Syphilis: A contagious venereal disease caused by the spirochete Treponema pallidum. [NIH]
Systemic: Affecting the entire body. [NIH] Telangiectasia: The permanent enlargement of blood vessels, causing redness in the skin or mucous membranes. [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] Teratogenicity: The power to cause abnormal development. [NIH] Testicles: The two egg-shaped glands found inside the scrotum. They produce sperm and male hormones. Also called testes. [NIH] Testicular: Pertaining to a testis. [EU] 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
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cerebrovascular disorders; craniocerebral trauma; brain neoplasms; brain hypoxia; intracranial hemorrhages; and infectious processes. [NIH] Thrombocytopenia: A decrease in the number of blood platelets. [NIH] Thrombosis: The formation or presence of a blood clot inside a blood vessel. [NIH] Thrombus: An aggregation of blood factors, primarily platelets and fibrin with entrapment of cellular elements, frequently causing vascular obstruction at the point of its formation. Some authorities thus differentiate thrombus formation from simple coagulation or clot formation. [EU] Thymus: An organ that is part of the lymphatic system, in which T lymphocytes grow and multiply. The thymus is in the chest behind the breastbone. [NIH] Thyroid: A gland located near the windpipe (trachea) that produces thyroid hormone, which helps regulate growth and metabolism. [NIH] Tissue: A group or layer of cells that are alike in type and work together to perform a specific function. [NIH] Torsion: A twisting or rotation of a bodily part or member on its axis. [NIH] Toxic: Having to do with poison or something harmful to the body. Toxic substances usually cause unwanted side effects. [NIH] 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] Trachea: The cartilaginous and membranous tube descending from the larynx and branching into the right and left main bronchi. [NIH] Transduction: The transfer of genes from one cell to another by means of a viral (in the case of bacteria, a bacteriophage) vector or a vector which is similar to a virus particle (pseudovirion). [NIH] Transfection: The uptake of naked or purified DNA into cells, usually eukaryotic. It is analogous to bacterial transformation. [NIH] Transfer Factor: Factor derived from leukocyte lysates of immune donors which can transfer both local and systemic cellular immunity to nonimmune recipients. [NIH] Translational: The cleavage of signal sequence that directs the passage of the protein through a cell or organelle membrane. [NIH] Transmitter: A chemical substance which effects the passage of nerve impulses from one cell to the other at the synapse. [NIH] Transplantation: Transference of a tissue or organ, alive or dead, within an individual, between individuals of the same species, or between individuals of different species. [NIH] Tricuspid Valve: The valve consisting of three cusps situated between the right atrium and right ventricle of the heart. [NIH] Trisomy: The possession of a third chromosome of any one type in an otherwise diploid cell. [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] Tyrosine: A non-essential amino acid. In animals it is synthesized from phenylalanine. It is
Dictionary 99
also the precursor of epinephrine, thyroid hormones, and melanin. [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]
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] Vascular: Pertaining to blood vessels or indicative of a copious blood supply. [EU] Vasculitis: Inflammation of a blood vessel. [NIH] Vector: Plasmid or other self-replicating DNA molecule that transfers DNA between cells in nature or in recombinant DNA technology. [NIH] Vein: Vessel-carrying blood from various parts of the body to the heart. [NIH] Venereal: Pertaining or related to or transmitted by sexual contact. [EU] 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] Ventricular: Pertaining to a ventricle. [EU] Veterinary Medicine: The medical science concerned with the prevention, diagnosis, and treatment of diseases in animals. [NIH] Villi: The tiny, fingerlike projections on the surface of the small intestine. Villi help absorb nutrients. [NIH] Viral: Pertaining to, caused by, or of the nature of virus. [EU] 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] Visual field: The entire area that can be seen when the eye is forward, including peripheral vision. [NIH] Vivo: Outside of or removed from the body of a living organism. [NIH] White blood cell: A type of cell in the immune system that helps the body fight infection and disease. White blood cells include lymphocytes, granulocytes, macrophages, and others. [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]
101
INDEX A Abdominal, 8, 9, 73, 91 Ablation, 4, 73 Abscess, 31, 73, 95 Acute lymphoblastic leukemia, 9, 22, 73 Acute lymphocytic leukemia, 73 Adrenergic, 73, 83, 93 Airway, 13, 73 Albinism, 23, 73 Algorithms, 73, 76 Alleles, 5, 73 Alternative medicine, 73 Ameliorating, 6, 73 Amino Acid Sequence, 46, 73, 83 Amino Acids, 73, 92, 93, 94 Anaesthesia, 73, 86 Analog, 7, 74 Anatomical, 74, 75, 86, 95 Anemia, 57, 74 Anesthesia, 73, 74 Angina, 74, 94 Angina Pectoris, 74, 94 Angiokeratoma, 19, 74 Anomalies, 14, 21, 25, 32, 47, 74 Anterior chamber, 74, 87 Antibacterial, 74, 96 Antibiotic, 74, 96 Antibody, 74, 79, 85, 86, 87, 89 Antigen, 74, 79, 85, 86, 87, 89 Anti-inflammatory, 74, 84, 93 Anxiety, 74, 94 Aorta, 25, 74, 99 Aortic Coarctation, 23, 74 Aortic Valve, 7, 74 Arterial, 74, 78, 86, 94 Arteries, 74, 76, 80, 89, 90, 94 Ataxia, 56, 57, 74, 85, 97 Atrial, 6, 13, 17, 75 Atrioventricular, 14, 32, 75 Atrium, 75, 89, 98, 99 Atrophy, 56, 75 Autoimmune disease, 40, 75 B Bacteria, 74, 75, 82, 96, 98 Bacteriophage, 75, 98 Basal Ganglia, 75, 76 Basal Ganglia Diseases, 75 Base, 75, 87, 97
Basement Membrane, 75, 83 Bewilderment, 75, 80 Bilateral, 11, 26, 75, 95, 96 Biochemical, 6, 8, 73, 75 Biological therapy, 75, 84 Biotechnology, 8, 53, 55, 56, 57, 75 Bladder, 76, 86, 94, 99 Blood Platelets, 76, 98 Blood pressure, 76, 77, 86, 89, 94 Blood vessel, 76, 77, 78, 87, 89, 92, 96, 97, 98, 99 Bone Marrow, 73, 76, 86, 88 Brain Neoplasms, 76, 85, 98 Branch, 4, 69, 76, 92, 96 Bronchi, 76, 83, 98 Buccal, 76, 85, 88 Bullous, 23, 76 C Cafe-au-Lait Spots, 26, 76 Calcineurin, 7, 76 Calcium, 76, 77, 79, 96 Calmodulin, 76, 77 Carcinogens, 77, 91 Cardiac, 3, 6, 7, 14, 24, 26, 28, 32, 33, 35, 77, 83, 90 Cardiac catheterization, 14, 77 Cardiomyopathy, 19, 26, 60, 77 Cardioselective, 77, 93 Cardiovascular, 7, 12, 14, 77 Cardiovascular disease, 7, 77 Case report, 11, 13, 20, 23, 24, 25, 26, 28, 29, 37, 38, 77, 79 Case series, 77, 79 Catecholamines, 26, 77 Catheterization, 14, 77 Caudal, 77, 93 Cavernous Hemangioma, 23, 77 Cell Differentiation, 77, 96 Cell Division, 56, 75, 77, 84, 92 Cell proliferation, 77, 96 Cell Survival, 77, 84 Central Nervous System, 76, 78, 84, 85, 91 Central Nervous System Infections, 78, 84, 85 Cerebellar, 75, 78, 94 Cerebral, 12, 75, 76, 78, 83, 85 Cerebral Infarction, 78, 85 Cerebrospinal, 78, 85
Noonan syndrome
Cerebrospinal fluid, 78, 85 Cerebrovascular, 12, 75, 77, 78, 98 Cerebrum, 78, 98 Cherubism, 12, 39, 78 Chorioretinitis, 78, 95 Choroid, 78, 95 Chromosomal, 7, 12, 78, 91 Chromosome, 7, 16, 20, 29, 36, 41, 78, 87, 88, 98 Chromosome Abnormalities, 36, 78 Chromosome Banding, 41, 78 Chromosome Mapping, 78 Chronic, 25, 37, 56, 60, 78, 82, 87, 93 Chronic renal, 78, 93 Cicatrix, 79, 87 Clinical study, 9, 79 Clinical trial, 3, 53, 79 Cloning, 5, 7, 76, 79 Clubbing, 33, 79 Coagulation, 29, 32, 76, 79, 98 Cofactor, 79, 94 Collagen, 75, 79, 83, 87 Coloboma, 19, 25, 79 Complement, 79, 80, 84, 87 Complementary and alternative medicine, 43, 44, 80 Complementary medicine, 43, 80 Complete remission, 80, 95 Computational Biology, 53, 55, 80 Conception, 80, 83, 97 Confusion, 13, 80, 82 Conjunctiva, 77, 80 Connective Tissue, 76, 79, 80, 83, 87, 88, 89, 90 Constitutional, 80, 95 Contraindications, ii, 80 Coronary, 11, 24, 34, 74, 77, 80, 89, 90 Coronary heart disease, 77, 80 Coronary Thrombosis, 80, 89, 90 Cortex, 75, 80, 81, 83, 94 Cortical, 8, 81, 95, 97 Cortisone, 81, 93 Cranial, 77, 81, 84, 87, 91, 97 Cranial Nerves, 77, 81 Craniocerebral Trauma, 75, 81, 84, 85, 98 Creatine, 9, 81 Creatinine, 81 Cryptorchidism, 46, 81, 90 Cutaneous, 10, 14, 19, 21, 28, 35, 36, 38, 81, 88 Cyanosis, 33, 81, 85 Cyclic, 4, 77, 81
102
Cytokine, 4, 81 Cytotoxic, 81, 96 D Databases, Bibliographic, 53, 81 Deletion, 16, 81 Depolarization, 81, 96 Diagnostic procedure, 45, 81 Diathesis, 11, 81 Dilatation, 11, 81, 88, 93 Dilation, 81, 85 Diploid, 82, 92, 98 Direct, iii, 6, 82, 94 Disorientation, 80, 82 Distal, 82, 94 Dorsal, 82, 93 Dwarfism, 20, 60, 82 Dysplasia, 8, 33, 57, 76, 82 Dystrophy, 56, 82 E Electrocoagulation, 79, 82 Embolus, 82, 87 Embryo, 77, 82, 86, 89, 93 Endemic, 82, 97 End-stage renal, 78, 82, 93 Environmental Exposure, 82, 91 Environmental Health, 52, 54, 82 Enzyme, 4, 82, 94, 96, 97 Epidemic, 82, 97 Epidermal, 5, 82, 89 Epidermal Growth Factor, 5, 82 Epidermis, 82 Epinephrine, 73, 83, 99 Epithelial, 74, 82, 83 Epithelial Cells, 82, 83 Epithelium, 75, 83, 87 Erythrocytes, 74, 76, 83 Essential Tremor, 56, 83 Exon, 37, 83 Extracellular, 7, 80, 83 Extracellular Matrix, 7, 80, 83 Extracellular Space, 83 F Facial, 4, 32, 46, 47, 83 Family Planning, 53, 83 Fetal Alcohol Syndrome, 19, 83 Fetus, 33, 83, 93 Fibrin, 83, 98 Fibroblasts, 7, 83 Fibrosis, 57, 83, 95 Fissure, 79, 83 Foramen, 33, 83
103
G Gallbladder, 73, 83 Gastric, 82, 84 Gastrin, 84, 85 Gene, 4, 5, 6, 7, 12, 15, 20, 23, 37, 38, 46, 57, 58, 73, 76, 84, 91 Genetic Engineering, 76, 79, 84 Genotype, 5, 7, 29, 35, 36, 84, 92 Gestation, 29, 79, 84 Gland, 81, 84, 86, 88, 91, 94, 95, 97, 98 Glucocorticoid, 84, 93 Glucose, 56, 84 Governing Board, 84, 93 Granulocytes, 84, 96, 99 Granuloma, 24, 84 Growth, 4, 7, 14, 17, 18, 26, 29, 32, 36, 41, 56, 60, 61, 74, 77, 78, 82, 83, 84, 89, 90, 91, 92, 98 Growth factors, 5, 7, 84 H Headache, 84, 85 Heart attack, 77, 84 Heat Stroke, 84, 86 Hemoglobin, 74, 81, 83, 84, 85 Hemoglobin M, 81, 85 Hemoglobinuria, 56, 85 Hereditary, 78, 85, 95 Heredity, 84, 85 Heterogeneity, 17, 32, 35, 38, 85 Homologous, 73, 85, 97 Hormonal, 75, 85, 90 Hormone, 4, 14, 17, 18, 26, 36, 41, 61, 81, 82, 83, 84, 85, 96, 98 Hormone therapy, 17, 18, 36, 85 Host, 75, 85, 86 Hybridization, 78, 85 Hydrocephalus, 34, 85, 87 Hydrogen, 75, 85, 89 Hyperkeratosis, 74, 85 Hyperplasia, 25, 86 Hyperpyrexia, 9, 86 Hypertelorism, 19, 86, 90 Hypertension, 77, 86, 87, 94 Hyperthyroidism, 86, 94 Hypertrophic cardiomyopathy, 11, 18, 25, 30, 34, 43, 46, 86 Hypertrophy, 3, 6, 10, 12, 85, 86 I Id, 44, 56, 61, 62, 68, 70, 86 Immune response, 74, 75, 81, 86, 97, 99 Immune Sera, 86 Immunization, 61, 86
Immunodeficiency, 56, 86 Immunologic, 86 Immunophilin, 76, 86 Immunosuppressive, 76, 84, 86 Impairment, 74, 75, 86, 89 In vitro, 86 In vivo, 6, 7, 86 Incontinence, 85, 86 Induction, 5, 6, 86 Infarction, 12, 78, 87 Infection, 75, 86, 87, 88, 99 Infertility, 61, 87 Inflammation, 74, 78, 83, 87, 90, 92, 95, 99 Innervation, 87, 94 Interorbital, 86, 87 Intestinal, 14, 38, 87, 88, 90 Intestines, 73, 87 Intracellular, 87, 96 Intracranial Hemorrhages, 85, 87, 98 Intracranial Hypertension, 84, 85, 87 Intraocular, 79, 87 Involuntary, 75, 83, 87, 90 Iris, 19, 25, 74, 87 Ischemia, 74, 75, 87 K Karyotype, 30, 87 Kb, 52, 87 Keloid, 28, 87 Kidney Disease, 52, 57, 87 L Larynx, 88, 98 Lesion, 10, 84, 88 Lethargy, 85, 88 Leukemia, 19, 37, 56, 88 Library Services, 68, 88 Ligament, 88, 94 Ligands, 4, 88 Linkage, 7, 9, 23, 88 Liver, 73, 83, 88, 93 Localization, 12, 88 Localized, 73, 87, 88, 91, 92 Lumen, 74, 88 Lupus, 37, 88 Lymph, 88, 97 Lymph node, 88 Lymphangiectasis, 35, 88 Lymphatic, 14, 20, 87, 88, 89, 91, 97, 98 Lymphedema, 20, 25, 88 Lymphoblastic, 88 Lymphoblasts, 73, 88 Lymphocyte, 74, 88, 89 Lymphoid, 88
Noonan syndrome
Lymphoma, 56, 88 M Malabsorption, 56, 88 Malformation, 7, 78, 89 Malignant, 9, 56, 76, 89, 90, 95 Malignant tumor, 89, 95 Malnutrition, 75, 89, 90 Mediator, 4, 89 MEDLINE, 53, 55, 57, 89 Melanin, 87, 89, 92, 99 Melanocytes, 89 Melanoma, 56, 89 Membrane, 78, 80, 81, 88, 89, 90, 93, 95, 96, 98 Menopause, 89, 94 Mental deficiency, 83, 89 Mental Retardation, 5, 19, 46, 58, 89, 91 Mesenchymal, 82, 89 Mesoderm, 5, 89 MI, 24, 39, 72, 89 Mitral Valve, 30, 89 Molecular, 5, 6, 7, 13, 35, 53, 55, 76, 77, 80, 89 Molecule, 4, 74, 75, 79, 89, 94, 96, 99 Monitor, 81, 89, 91 Mononuclear, 84, 89 Morphogenesis, 83, 89 Mucosa, 88, 90 Muscle Fibers, 90 Muscular Atrophy, 56, 90 Muscular Dystrophies, 82, 90 Myenteric, 25, 90 Myocardial infarction, 80, 89, 90, 94 Myocardium, 74, 89, 90 Myosin, 76, 90 Myotonic Dystrophy, 56, 90 N Necrosis, 78, 87, 89, 90 Need, 47, 63, 78, 90 Neoplasia, 56, 90 Neoplasm, 74, 90 Neoplastic, 88, 90 Nephropathy, 88, 90 Nerve, 12, 73, 74, 75, 87, 89, 90, 91, 93, 94, 95, 98 Nervous System, 56, 78, 89, 90, 97 Neuroblastoma, 24, 90 Neurologic, 22, 61, 85, 90 Neuroretinitis, 90, 95 Night Blindness, 90, 95 Noonan Syndrome, 15, 16, 17, 34, 36, 46, 47, 56, 90
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Nuclear, 5, 75, 90, 91 Nucleus, 75, 81, 89, 91, 97 O Occupational Therapy, 48, 91 Ocular, 11, 23, 31, 91 Oculomotor, 77, 91 Oedema, 77, 91 Oncogene, 56, 91 Optic Nerve, 90, 91, 95 Osteochondrodysplasias, 41, 91 Ovum, 84, 91 P Pancreas, 73, 91 Pancreatic, 56, 91 Pancreatic cancer, 56, 91 Paralysis, 77, 91, 94 Paroxysmal, 56, 74, 91 Partial remission, 91, 95 Particle, 91, 98 Pathogenesis, 4, 6, 7, 20, 91 Pathologic, 80, 92, 95, 96 Pathologies, 3, 92 Pelvic, 92, 94 Peptide, 5, 92, 93, 94 Perforation, 83, 92 Pericarditis, 14, 92 Pericardium, 92 Pharmacologic, 74, 92, 98 Phenotype, 4, 5, 7, 15, 30, 35, 36, 39, 91, 92 Phenylalanine, 92, 98 Phospholipases, 92, 96 Phosphorus, 76, 92 Phosphorylated, 4, 92 Phosphorylation, 5, 6, 7, 92, 94 Photocoagulation, 79, 92 Physical Therapy, 48, 92 Physiologic, 92, 94, 95 Pigment, 73, 89, 92 Pigmentation, 10, 92 Plants, 84, 92 Platelet Activation, 92, 96 Platelets, 92, 93, 98 Polycystic, 57, 93 Polymorphism, 15, 93 Polypeptide, 73, 79, 82, 85, 93, 94 Posterior, 25, 75, 78, 82, 87, 91, 93, 97 Postnatal, 83, 93 Postsynaptic, 93, 96 Post-translational, 6, 93 Potentiation, 93, 96 Practice Guidelines, 54, 60, 93 Precursor, 92, 93, 99
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Prednisolone, 93 Prednisone, 36, 93 Prenatal, 20, 21, 32, 33, 82, 83, 93 Prenatal Diagnosis, 20, 21, 33, 93 Prevalence, 14, 93 Probe, 4, 93 Progression, 6, 33, 93 Progressive, 34, 77, 78, 84, 90, 92, 93, 95 Propranolol, 10, 93 Prostate, 56, 94 Protein C, 73, 75, 94 Protein Conformation, 73, 94 Protein S, 4, 57, 76, 94 Proteins, 4, 5, 6, 73, 74, 79, 85, 89, 92, 94, 95 Protein-Tyrosine Kinase, 7, 94 Proximal, 12, 34, 82, 94, 95 Ptosis, 19, 90, 94 Public Policy, 53, 94 Pulmonary, 8, 13, 35, 36, 76, 91, 94, 99 Pulmonary Artery, 76, 94, 99 Pulmonary hypertension, 36, 94 Pulmonary Valve, 91, 94 R Race, 87, 94 Radioactive, 85, 91, 94 Receptor, 4, 5, 8, 74, 94, 96 Rectum, 86, 94 Red Nucleus, 75, 94 Refer, 1, 76, 79, 88, 91, 94 Refraction, 94, 96 Regurgitation, 10, 95 Remission, 37, 95 Resorption, 85, 95 Restoration, 92, 95 Retina, 78, 90, 91, 95 Retinitis, 34, 35, 95 Retinitis Pigmentosa, 34, 95 Retinoblastoma, 56, 95 Rhabdomyosarcoma, 31, 40, 44, 95 S Salivary, 91, 95, 97 Sclerosis, 56, 95 Screening, 79, 95 Scrotum, 81, 95, 97 Secretion, 14, 17, 82, 95 Seizures, 91, 95 Semen, 94, 95 Seminoma, 43, 95 Septal, 6, 10, 13, 95 Serum, 9, 79, 86, 95 Sex Determination, 57, 96 Shoulder Pain, 61, 96
Signal Transduction, 4, 5, 6, 46, 76, 96 Signs and Symptoms, 95, 96 Skeletal, 4, 82, 90, 96 Skeleton, 96 Skull, 81, 96, 97 Small intestine, 85, 87, 96, 99 Soft tissue, 76, 79, 96 Soma, 96 Somatic, 8, 81, 96 Specialist, 62, 81, 96 Species, 83, 87, 94, 96, 98 Spectrum, 14, 35, 36, 96 Speech pathologist, 48, 96 Sperm, 78, 96, 97 Sphenoid, 86, 97 Spirochete, 97 Spleen, 88, 97 Sporadic, 5, 95, 97 Sterility, 87, 97 Stomach, 73, 84, 85, 87, 96, 97 Stroke, 52, 77, 97 Stroma, 87, 97 Subcutaneous, 21, 91, 97 Submaxillary, 82, 97 Substance P, 95, 97 Substrate, 5, 97 Symphysis, 94, 97 Synaptic, 96, 97 Syphilis, 61, 97 Systemic, 37, 74, 76, 83, 87, 91, 93, 97, 98 T Telangiectasia, 57, 97 Temporal, 21, 37, 97 Teratogenicity, 33, 97 Testicles, 72, 81, 95, 97 Testicular, 81, 97 Thalamic, 75, 97 Thalamic Diseases, 75, 97 Thrombocytopenia, 14, 98 Thrombosis, 94, 97, 98 Thrombus, 17, 80, 87, 98 Thymus, 86, 88, 98 Thyroid, 86, 98, 99 Tissue, 74, 75, 76, 77, 79, 80, 81, 82, 83, 86, 88, 89, 90, 91, 92, 93, 95, 96, 97, 98 Torsion, 87, 98 Toxic, iv, 82, 98 Toxicology, 54, 98 Trachea, 5, 76, 88, 98 Transduction, 4, 96, 98 Transfection, 76, 98 Transfer Factor, 86, 98
Noonan syndrome
Translational, 6, 98 Transmitter, 89, 98 Transplantation, 79, 86, 98 Tricuspid Valve, 7, 98 Trisomy, 24, 98 Tuberculosis, 88, 98 Tuberous Sclerosis, 57, 98 Tyrosine, 4, 5, 7, 21, 34, 38, 46, 77, 94, 98 U Unconscious, 86, 99 Urethra, 94, 99 Urinary, 85, 86, 99 Urine, 76, 81, 82, 85, 86, 99 V Vascular, 74, 78, 87, 91, 98, 99 Vasculitis, 30, 99 Vector, 98, 99 Vein, 91, 99
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Venereal, 97, 99 Venous, 78, 91, 94, 99 Ventricle, 26, 74, 75, 89, 94, 98, 99 Ventricular, 11, 15, 33, 85, 99 Veterinary Medicine, 53, 99 Villi, 85, 99 Viral, 98, 99 Virus, 75, 78, 84, 98, 99 Viscera, 96, 99 Visual field, 95, 99 Vivo, 99 W White blood cell, 73, 74, 88, 99 X X-ray, 72, 91, 99 Y Yeasts, 92, 99
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Noonan syndrome
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