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

MARFAN

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., 1960Marfan 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: 0-597-84028-8 1. Marfan Syndrome-Popular works. I. Title.

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

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

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Acknowledgements The collective knowledge generated from academic and applied research summarized in various references has been critical in the creation of this book which is best viewed as a comprehensive compilation and collection of information prepared by various official agencies which produce publications on Marfan 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 MARFAN SYNDROME ................................................................................ 3 Overview........................................................................................................................................ 3 The Combined Health Information Database................................................................................. 3 Federally Funded Research on Marfan Syndrome ......................................................................... 4 E-Journals: PubMed Central ....................................................................................................... 13 The National Library of Medicine: PubMed ................................................................................ 14 CHAPTER 2. NUTRITION AND MARFAN SYNDROME ...................................................................... 59 Overview...................................................................................................................................... 59 Finding Nutrition Studies on Marfan Syndrome........................................................................ 59 Federal Resources on Nutrition ................................................................................................... 60 Additional Web Resources ........................................................................................................... 61 CHAPTER 3. ALTERNATIVE MEDICINE AND MARFAN SYNDROME................................................ 63 Overview...................................................................................................................................... 63 National Center for Complementary and Alternative Medicine.................................................. 63 Additional Web Resources ........................................................................................................... 65 General References ....................................................................................................................... 66 CHAPTER 4. DISSERTATIONS ON MARFAN SYNDROME.................................................................. 67 Overview...................................................................................................................................... 67 Dissertations on Marfan Syndrome............................................................................................. 67 Keeping Current .......................................................................................................................... 67 CHAPTER 5. CLINICAL TRIALS AND MARFAN SYNDROME ............................................................ 69 Overview...................................................................................................................................... 69 Recent Trials on Marfan Syndrome............................................................................................. 69 Keeping Current on Clinical Trials ............................................................................................. 70 CHAPTER 6. BOOKS ON MARFAN SYNDROME ................................................................................ 73 Overview...................................................................................................................................... 73 Book Summaries: Federal Agencies.............................................................................................. 73 Book Summaries: Online Booksellers........................................................................................... 74 The National Library of Medicine Book Index ............................................................................. 75 Chapters on Marfan Syndrome.................................................................................................... 75 CHAPTER 7. MULTIMEDIA ON MARFAN SYNDROME ..................................................................... 77 Overview...................................................................................................................................... 77 Video Recordings ......................................................................................................................... 77 Bibliography: Multimedia on Marfan Syndrome......................................................................... 78 CHAPTER 8. PERIODICALS AND NEWS ON MARFAN SYNDROME .................................................. 79 Overview...................................................................................................................................... 79 News Services and Press Releases................................................................................................ 79 Newsletter Articles ...................................................................................................................... 81 Academic Periodicals covering Marfan Syndrome ...................................................................... 81 APPENDIX A. PHYSICIAN RESOURCES ............................................................................................ 85 Overview...................................................................................................................................... 85 NIH Guidelines............................................................................................................................ 85 NIH Databases............................................................................................................................. 87 Other Commercial Databases....................................................................................................... 89 APPENDIX B. PATIENT RESOURCES ................................................................................................. 91 Overview...................................................................................................................................... 91 Patient Guideline Sources............................................................................................................ 91 Finding Associations.................................................................................................................... 96 APPENDIX C. FINDING MEDICAL LIBRARIES .................................................................................. 99 Overview...................................................................................................................................... 99

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Preparation................................................................................................................................... 99 Finding a Local Medical Library.................................................................................................. 99 Medical Libraries in the U.S. and Canada ................................................................................... 99 ONLINE GLOSSARIES................................................................................................................ 105 Online Dictionary Directories ................................................................................................... 106 MARFAN SYNDROME DICTIONARY.................................................................................... 107 INDEX .............................................................................................................................................. 139

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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 Marfan 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 Marfan 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 Marfan 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 Marfan 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 Marfan 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 Marfan 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 MARFAN SYNDROME Overview In this chapter, we will show you how to locate peer-reviewed references and studies on Marfan syndrome.

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

Revised Diagnostic Criteria for the Marfan Syndrome Source: American Journal of Medical Genetics. 62(4): 417-426. April 24, 1996. Summary: In 1986, the diagnosis of Marfan syndrome was codified on the basis of clinical criteria in the Berlin nosology. Over time, weaknesses have emerged in these criteria, a problem accentuated by the advent of molecular testing. In this article, the authors propose a revision of the diagnostic criteria for Marfan syndrome and related conditions. They call for more stringent requirements for diagnosis of Marfan syndrome in relatives of an unequivocally affected individual, skeletal involvement as a major criterion if at least 4 of 8 typical skeletal manifestations are present, the potential contribution of molecular analysis to the diagnosis of Marfan syndrome, and delineation of the initial criteria for diagnosis of other inherited conditions with partially

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overlapping phenotypes. One of the criteria used to diagnose Marfan syndrome is the presence of a highly arched palate with crowding of the teeth; other facial anomalies are also discussed. 1 figure. 57 references.

Federally Funded Research on Marfan Syndrome The U.S. Government supports a variety of research studies relating to Marfan 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 Marfan 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 Marfan syndrome. The following is typical of the type of information found when searching the CRISP database for Marfan syndrome: •

Project Title: AORTIC DILATION & MARFAN SYNDROME Principal Investigator & Institution: Silverman, David; University of Connecticut Sch of Med/Dnt Bb20, Mc 2806 Farmington, Ct 060302806 Timing: Fiscal Year 2001 Summary: This abstract is not available. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen

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Project Title: AUTOIMMUNE AORTIC ANTIGENS IN ABDOMINAL AORTIC ANEURYSMS Principal Investigator & Institution: Tilson, Martin D.; Professor; St. Luke's-Roosevelt Inst for Hlth Scis Health Sciences New York, Ny 10019 Timing: Fiscal Year 2001; Project Start 30-SEP-1999; Project End 31-AUG-2003 Summary: Abdominal aortic aneurysms occur in up to 6 percent of individuals, and despite modern advances in diagnosis and treatment, mortality from aneurysm rupture remains high. The array of genetic factors that participate in the formation and evolution of abdominal aortic aneurysm (AAA) remains to be established. This application is a component of a Collaborative R01 in which Drs. Craig T. Basson, Richard B. Devereux, and M. David Tilson combine clinical and basic investigation of individuals with AAA to identify the molecular genetic pathways that initiate and modulate progression of AAA. Together, they will study patients with both familial and sporadic forms of AAA in order to identify specific gene mutations that cause AAA and which interact with autoimmune processes that may lead to aneurysm evolution. In Project 1, Dr. Basson will perform linkage analysis and positional cloning studies of large kindreds that are

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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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affected by an autosomal dominant familial form of abdominal aortic aneurysm disease without connective tissue abnormalities to identify mutated gene(s) that cause AAA. In Project 2, Dr. Devereux will study families affected by both Marfan syndrome and AAA to identify fibrillin-1 mutations and polymorphisms that predispose individuals affected by Marfan syndrome to abdominal vs thoracic aortic aneurysm formation. Finally, in Project 3, Dr. Tilson will characterize a novel aortic-specific (AAAP-40) and its homologs (ASAPs) that are frequent autoantigens in AAA patients and may contribute to autoimmune processes which participate in the AAA evolution. Dr. Basson's experience in cardiovascular molecular genetics, Dr. Devereux's experience in clinical and epidemiological aspects of cardiovascular-connective tissue disorders, and Dr. Tilson's experience in AAA genetics and vascular cell biology will combine to provide unique perspectives on the genetic etiologies and pathogenesis of AAA. Dr. Basson will provide expertise in chromosomal mapping and mutational analysis that will supplement all three projects. Dr. Devereux's expertise in clinical phenotyping and analysis of aortic aneurysms will provide a critical foundation for these projects. Dr. Tilson's expertise in cell biology and physiology of AAA will permit the integration of the genetic elements identified in these projects into novel cellular pathways that normally maintain vascular wall homeostasis but when perturbed lead to aneurysmal dilatation. Elucidation of the cellular genetic pathways that lead to AAA will lead to improvements in this condition's diagnosis and will ultimately suggest novel therapeutic targets to limit aortic dilatation prior to aneurysm formation and fatal rupture. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen •

Project Title: BIOCHEMICAL AND GENETIC ANALYSIS OF LTBP-1 Principal Investigator & Institution: Rifkin, Daniel B.; Professor; Cell Biology; New York University School of Medicine 550 1St Ave New York, Ny 10016 Timing: Fiscal Year 2001; Project Start 01-APR-1999; Project End 31-JAN-2004 Summary: The latent TGF-beta binding protein-1 (LTBP-1) is a 120-170 kD molecule with strong homology to fibrillins-1 and -2; the proteins defective in Marfan syndrome and Congenital Contractual Arachnodactyly. LTBP-1 has 18 EGF-like repeats, most of which are Ca++-binding, and 4 repeats of a cysteine-rich domain. Fibrillins-1 and -2 contain over 40 EGF-like repeats and seven cysteine-rich domains. Thus far, 2 cysteinerich domains have only been described in the LTBPs and fibrillins. Consistent with the widespread in vivo distribution of LTBP-1, in vitro experiments indicate that LTBP-1 is required for TGF-beta release from its latent complex, is necessary for bone nodule differentiation, and is critical for epithelial-mesenchymal transformation during endocardial cushion formation. Thus, LTBP-1 may carry out duel functions. It may be important in matrix organization, and/or it may target latent TGF- beta to sites where subsequent release regulates normal tissue maturation. However, the mechanisms and consequences of LTBP-1 activity in matrix organization and/or in TGF-beta function in vivo have not been elaborated and the differentiation of LTBP-1 activity as either a matrix structural component or as a latent TGF-beta targeting molecule has not been described. We will analyze these possibilities using a genetic approach whereby mice will be developed that express either 1) TGF-beta1 modified so that the cysteine required for bonding to LTBP-1 is mutated to serine, thereby blocking TGF-beta1 interaction with LTBP-1, or 2) LTBP-1 either missing specific sequences necessary for fibrillogenesis or with a null mutation. The phenotypes of animals expressing these mutated proteins will be analyzed, and cells and tissues derived from these mice will be characterized by histologic and functional assays to analyze fibrillogenesis, TGF-beta activation, bone nodule formation, and endocardial-mesenchymal transformation.

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Studies with mice expressing the TGF-beta mutation should clarify the relationship between LTBP-1 binding and TGF-beta activation and indicate the importance of matrix bound latent TGF-beta. Studies with mutated LTBP-1 should elucidate the role of LTBP1 in the organization of connective tissue and may reveal a phenotype to suggest a role for LTBP-1 in human disease. The information gained from these studies will reveal the function of LTBP-1 and improve our understanding of tissue organization and growth factor action in both normal and pathological states including cancer, cardiovascular malformation, and bone formation. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen •

Project Title: CHARACTERIZATION OF EXTRACELLULAR MICROFIBRILS Principal Investigator & Institution: Ramirez, Francesco B.; Chief Science Officer; Pharmacology; Mount Sinai School of Medicine of Nyu of New York University New York, Ny 10029 Timing: Fiscal Year 2001; Project Start 01-APR-1993; Project End 31-MAR-2005 Summary: (adapted from the Investigator's abstract): The extracellular matrix (ECM) has a wide role in the development of the organism and elucidating the function of its components is critical to understanding morphogenesis. The current proposal will examine the role of fibrillins 1 and 2 in ECM function. Mutations in fibrillin-1 are associated with Marfan syndrome (MFS) while mutations in fibrillin-2 cause congenital contractual aracnodactyly (CCA). During the previous support cycle the Principal Investigator created a number of murine models of MFS and CCA by gene deletion and mutation of fibrillin genes. As a result, the hypothesis to be addressed is that fibrillinmicrofibrils have superimposed functions in morphogenesis and homeostasis. The morphogenetic role in the skeleton of the mutant mice is documented by the overgrowth of fibrillin-1 deficient bones and the syndactyly of fibrillin-2 null limbs. In the current proposal, the Principal Investigator will extend these studies by creating additional murine fibrillin gene mutation models and then extensively examine the bone phenotype that is produced. This analysis will include categorization of the morphometric and biochemical properties of the fibrillin deficient bones, and the study of bone morphogenesis and growth in mutant organ cultures. Furthermore, studies are proposed to characterize the factors that control cartilage-specific fibrillin gene expression during development. This work is expected to enhance current understanding of the role of ECM in cartilage and bone development. Additional progress is expected from the interaction with other IPPG projects that study growth factors (Basilico and Rifkin) and chondrocyte determinants (Lufkin), as well as from relating findings in this application at the organ and organismal level through the Structure Function laboratory (Schaffler). Collectively, it is anticipated that this multidisciplinary IRPG will yield an integrated and comprehensive view of bone modeling and remodeling. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen

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Project Title: COMPUTATIONAL MORPHOGENESIS

STUDY

OF

FIBRILLINS

IN

CV

Principal Investigator & Institution: Rongish, Brenda J.; Assistant Professor; Physiology; University of Kansas Medical Center Msn 1039 Kansas City, Ks 66160 Timing: Fiscal Year 2002; Project Start 30-SEP-2002; Project End 31-AUG-2005 Summary: (provided by applicant): Cell-extracellular matrix (ECM) interactions are key regulators of developmental morphogenic events. Cardiovascular abnormalities

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associated with the connective tissue disorders Marfan syndrome and congenital contractural arachnodactyly have been linked genetically and biochemically to the microfibrillar ECM proteins fibrillin 1 and 2 respectively. In addition to ocular and skeletal abnormalities, patients with these disorders manifest aortic root dilatation, aortic insufficiency, and mitral valve prolapse. A neonatal form of Marfan syndrome causes severe cardiovascular defects and leads to death within the first year. Epifluorescence microscopy indicates fibrillin-1 and -2 positive fibrils are present in the epicardium, dorsal mesocardium, and enclocardial cushion tissue/valve primordial of avian embryos, and surround the forming bilateral dorsal aortae; implicating the fibrillins in cardiovascular morphogenesis. These microfibrils may impart stability or provide extensible properties to these regions, which are subject to stress/strain. To address the function(s) of fibrillins during early cardiovascular development we will use time-lapse imaging, fibrillin marker antibodies, and computational analyses to document fibrillin assembly/reorganization and motion in the avian embryo bilateral heart forming tissues, endocardial cushions/valve primordia, and major embryonic vessels in normal embryos. Further, we propose to monitor the effects of experimentally perturbing microfibril assembly on cardiovascular development. Similarly, we will monitor the effects of altering cardiovascular (CV) morphogenesis (at the tissue level) on fibrillin assembly. Finally, we will use a complementary mouse explant culture system to monitor dynamically fibrillin assembly in normal and transgenic CV tissue, We hypothesize that dynamic microfibril assembly is key for normal cardiac development, and that disruption of orderly assembly leads to cardiovascular malformations. Examining fibrillin fibril assembly will lead to a better understanding of connective tissue-related cardiovascular defects. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen •

Project Title: FIBRILLIN GENE MUTATION--ECTOPIA & RETINAL TEAR DISORDER Principal Investigator & Institution: Drack, Arlene; Emory University 1784 North Decatur Road Atlanta, Ga 30322 Timing: Fiscal Year 2001; Project Start 01-OCT-1974; Project End 30-NOV-2004 Summary: The purpose of the study is to genotype the fibrillin 15 gene in family members and determine whether the mutation segregates with ectopia lentis and/or retinal tear. Through a full Marfan clinical evaluation, we will determine whether isolated ectopia lentis and retinal tear pathology (as compared to the full Marfan syndrome) is associated with this specific mutation in fibrillin 15. Although there is no treatment arm to this research protocol, preventive and palliative therapy will benefit subjects found to have ocular, cardiac or skeletal pathology through clinical services. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen

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Project Title: GENETIC BASIS OF AORTIC ANEURYSMS/DISSECTIONS Principal Investigator & Institution: Milewicz, Dianna M.; Associate Professor; Internal Medicine; University of Texas Hlth Sci Ctr Houston Box 20036 Houston, Tx 77225 Timing: Fiscal Year 2002; Project Start 18-DEC-2001; Project End 30-NOV-2006 Summary: (provided by applicant): The major disease processes affecting the aorta are aortic aneurysms and dissections. Aortic aneurysms are a major health problem in the United States, representing the I3th major cause of death, accounting for nearly 15,000 deaths annually. Ten to twenty percent of all aneurysms result from a genetic predisposition for the disorder. Although some familial aneurysms are due to inherited

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defects in extracellular matrix proteins, including Marfan syndrome and Ehlers-Danlos syndrome type IV, the majority of inherited aneurysms occur as an isolated cardiovascular abnormality, segregating in families as a monogenic autosomal dominant disorder. We have identified 25 families with autosomal dominant inheritance of thoracic aortic aneurysms and dissections, in whom the disease is characterized by variable expression and decreased penetrance. Using DNA obtained from family members and polymorphic markers spaced throughout the human genome, we have mapped a defective gene causing the disorder in 12 of these families to 5 Mb region at 5qI3-14. Dr. Craig Basson and his colleagues (Cornell University Medical College) have mapped a second locus for familial aneurysms in one large family to 11q23. We have confirmed further genetic heterogeneity for this disorder by the identification of families in whom the inheritance of the phenotype is not linked to the two identified loci. The long-term goal of the proposed project is to identify the mutant genes that predispose an individual to thoracic aortic aneurysms or dissections. The specific aims are the following: (1) to identity characterize, and collect samples from families with thoracic aortic aneurysms and dissections; (2) to identify the third locus for thoracic aortic aneurysms and dissections; (3) to narrow the critical interval at 5q 13-14 and identify candidate genes; (4) to screen for mutations in candidate genes using samples from families with autosomal dominant inheritance of thoracic aortic aneurysms and dissections. The proposed studies will identify the defective gene at a major locus for thoracic aortic aneurysms and dissections. The mapping of a third locus responsible for the disease will be determined, which is the first step towards elucidating other gene defects responsible for this disease. Identification of the genetic etiology of aortic aneurysms and dissections will enable preclinical diagnosis in families at risk. In addition, identification of the defective genes will lead to the development of experiment models of vascular pathology to increase understanding of the molecular pathology and provide the basis for rationale intervention. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen •

Project Title: LTBP-2--STRUCTURAL AND REGULATORY FUNCTIONS Principal Investigator & Institution: Shipley, J Michael.; Barnes-Jewish Hospital Ms 9094-212 St. Louis, Mo 63110 Timing: Fiscal Year 2001; Project Start 07-AUG-1998; Project End 31-JUL-2003 Summary: Latent TGF-b binding protein-2 (LTBP-2) is one of four LTBPs, and shares a high degree of identity with fibrillin, a major component of extracellular microfibrils. LTBP-2 has been shown in bovine systems to be an integral component of elastic microfibrils. In humans, mutations in LTBP-2 are associated with a disease sharing similarities with the Marfan syndrome, characterized by skeletal and vascular abnormalities. As its name indicates, LTBP-2 is also a TGF-b binding protein, and may regulate the activity of TGF-bs. In this proposal, the proposed dual function of LTBP-2 will be examined. We have created a targeted deletion in the mouse LTBP-2 gene, eliminating its expression. Mice homozygous for this mutation have an embryonic lethal phenotype. We will ultimately examine the basis for this lethal phenotype. First, we will do several experiments designed to investigate the association of LTBP-2 with microfibrils vs. TGF-b in the developing and adult mouse. The association of LTBP-2 with elastic fibers in the normal mouse will be investigated in situ hybridization and immunolocalization. Association of TGF-b with microfibrils will be examined as well. The LTBP-2/TGF-b interaction will also be investigated. Again, in situ hybridization will be used to determine the spatial and temporal coexpression of LTBP-2 with TGF-b1, -b2 and -b3 in the developing and adult mouse. The specific interaction of LTBP-2 and

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individual TGF-b isoforms will be investigated in primary explanted murine tissue cultures, and by co-transfection in mammalian expression systems. The binding site on LTBP-2 for TGF-bs will be determined using the same transfection systems. Having defined when and where LTBP-2 is associated with microfibrils vs. TGF-b, we will then examine the basis for the lethal phenotype of the LTBP-2 knockout mouse. Properties of microfibrils will be examined in LTBP-2 -/- embryos, as will the activation state of TGFb in these embryos. Finally, we will assess whether LTBP-1 can functionally substitute for LTBP-2 in the developing mouse. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen •

Project Title: MARFAN SYNDROME--GENOTYPE/PHENOTYPE CORRELATIONS Principal Investigator & Institution: Giampietro, Philip F.; Weill Medical College of Cornell Univ New York, Ny 10021 Timing: Fiscal Year 2001 Summary: The purpose of this study is to correlate phenotypic features in Marfan Syndrome (MS) with a panel of FBN-1 polymorphisms (genotype). Patients will be admitted to the CCRC for 3.5 days during which time cardiology, ophthalmology, pulmonary orthopedic, bone density an nutrition evaluations will be performed. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen

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Project Title: MOLECULAR BIOLOGY OF THE MARFAN SYNDROME Principal Investigator & Institution: Dietz, Harry C.; Professor; Pediatrics; Johns Hopkins University 3400 N Charles St Baltimore, Md 21218 Timing: Fiscal Year 2001; Project Start 15-MAR-1992; Project End 31-MAR-2005 Summary: Marfan syndrome (MFS) is a dominant disorder of connective tissue with a prevalence of about 1 in 5,000. Manifestations involve the ocular, skeletal, cardiovascular and pulmonary systems. Mutations in the gene encoding fibrillin-1 (FBN1), the major constituent of extracellular microfibrils, cause MFS. The prevailing view has been that microfibrils regulate the deposition of tropoelastin in late fetal life. A genetically determined deficiency of microfibrils would result in failed elastogenesis and hence inherent weakness of the aortic wall. Characterization of fibrillin-1 deficient mouse lines that were created by targeted gene disruption revealed intact and extended elastic lamellae in the aortic media despite a severe quantitative and qualitative abnormality of microfibrils. Fragmentation of elastic fibers was preceded by a predictable pathogenetic sequence that included an intense fibroproliferative response of vascular smooth muscle cells (VSMC) and inflammation-mediated recruitment and activation of elastases. We hypothesize that loss of matrix-cell attachments that are normally mediated by microfibrils trigger abnormal cellular differentiation and behavior. Alternatively, this abnormal cellular phenotype is predicted by dysregulation of the multipotential cytokine TGFbeta. The microfibrillar matrix is believed to sequester latent TGFbeta, thus regulating its activation by cell surface-associated factors. A pathologic upregulation of TGFbeta activity is also consistent with our observed primary failure of alveolar branching morphogenesis in Fbn1 (-/-) mice. We propose comprehensive characterization of SMC phenotype through in situ analysis of expressed transcripts, secreted proteins and surface markers. We will scrutinize the role of TGFbeta in vascular and pulmonary disease using a sensitive and specific TGFbetaresponsive reporter transgene and antibodies specific to the active and latent forms. Analysis of the phenotypic consequences of targeted overexpression of TGFbeta in differentiated VSMC and pulmonary myofibroblasts will determine whether this

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dysregulation is sufficient for disease pathogenesis. We will assess the ability of TGFbeta-neutralizing Ab to rescue lung branching morphogenesis in organ culture. Characterization of a fibrillin-1 deficient line that overexpresses a potent tissue inhibitor of metalloproteinases (TIMP) will determine whether pharmacologic elastase inhibitors hold promise for the modulation of the natural history of MFS. Results will be correlated with those observed in mice heterozygous for a dominant-negative Fbn1 allele, a mechanism that recapitulates the human condition. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen •

Project Title: PATHOGENESIS AND THERAPY OF MARFAN VASCULAR DISEASE Principal Investigator & Institution: Judge, Daniel P.; Medicine; Johns Hopkins University 3400 N Charles St Baltimore, Md 21218 Timing: Fiscal Year 2003; Project Start 01-APR-2003; Project End 31-MAR-2008 Summary: (provided by applicant): This proposal is designed to provide the principal investigator, Daniel P. Judge, with the necessary scientific experience to allow for a successful transition to an independent career as a clinical scientist. Dr. Judge outlines a five-year plan to identify the factors responsible for the cardiovascular manifestations of Marfan syndrome, including aortic aneurysm and cardiac valve dysfunction. This work will be performed under the mentorship of Harry C. Dietz, professor of Pediatrics, Medicine, Molecular Biology, Neurosurgery, and Genetics at Johns Hopkins University. Dr. Dietz has studied Marfan syndrome for the past 15 years, and he was the first to identify that mutations in the gene encoding fibrillin-1 cause this disorder. He has a long record of successful mentorship of graduate students. A consultant, Dr. David Huso, is a highly skilled veterinary pathologist who will work closely with Dr. Judge, training him in the histopathology of aortic and cardiovascular disease in the mouse models. In addition, an advisory committee of expert clinical scientists will provide both scientific and career advice. The candidate received his M.D. in 1993, followed by a three-year internal medicine residency and a four-year post-doctoral fellowship in cardiology. In July 2000, he became an Assistant Professor at Johns Hopkins University. He has spent the past 3.5 years in the laboratory of his mentor, Dr. Dietz, investigating the molecular pathogenesis of Marfan syndrome. The work will focus on the pathogenesis of the cardiovascular manifestations of Marfan syndrome, including aortic aneurysm, aortic dissection, and cardiac valve thickening. Using several novel murine models that the candidate has developed, he will address issues of pathogenesis and therapy for these conditions. Specific aims include: 1) Evaluation of the contribution of dominant-negative interference versus haploinsufficiency for fibrillin-1 in the pathogenesis of MFS, 2) Elucidation of the contribution of dysregulated TGFbeta activity in the cardiovascular pathogenesis of MFS, and 3) Pharmacologic modulation of the pathogenetic sequence of events leading to aneurysm formation. This work has relevance to nonsyndomic aneurysm and cardiac valve insufficiency. Dr. Judge's training will be based in the School of Public Health at Johns Hopkins, and he will be advised by a committee of experts to create a fruitful environment for the development of an independent clinical scientist. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen

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Project Title: PATHOGENESIS OF MARFAN SYNDROME AND RELATED DISORDERS Principal Investigator & Institution: Sakai, Lynn Y.; Associate Professor; Biochem and Molecular Biology; Oregon Health & Science University Portland, or 972393098

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Timing: Fiscal Year 2001; Project Start 01-MAR-2001; Project End 28-FEB-2005 Summary: (from applicant's abstract): Mutations in FBN1 result in the pleiotropic cardiovascular, skeletal, and ocular phenotypic features of the Marfan syndrome as well as in several of the individual phenotypic features of the Marfan syndrome in isolation, such a isolated aortic aneurysm, isolated ectopia lentis, and isolated tall statures. Mutations have also been found in Shprintzen-Goldberg syndrome and the MASS phenotype, and FBN1 has been implicated in Weill-Marchesani syndrome, pseudoexfoliation of the lens, and scleroderma. More than 200 different mutations in FBNl have bee identified. Mutations in FBN2 have been identified in individuals with congenital contractural arachnodactyly, disorder affecting skeletal but usually not ocular or cardiovascular tissues. With the notable exception of the mutations causing "neonatal" Marfan syndrome, efforts correlate genotype with phenotype been unsuccessful. In this application, two potential mechanisms by which mutations in fibrillins may result in disease are proposed. In the first case, mutant fibrillin molecules would create weak spots in all microfibrils; over time, microfibrils, which are normally very long, would be fragmented into short microfibrillar pieces, precipitating a cascade of events leading to the development of disease. A second possible mechanism is based on the hypothesis that some mutations in fibrillins will inhibit assembly of microfibrils. In this case, most of the microfibrils will be short, and severe early onset disease is predicted. Specific aims are proposed to test these mechanisms of disease pathogenesis. In the first specific aim, novel "coculture assay" will be utilized to precisely define domains in fibrillins required for assembly of microfibrils. In this assay, effects of epitope-mapped monoclonal antibodies will be monitored, and cells transfected with both wildtype and mutant constructs will be tested. In the second specific aim, in order to test whether the results obtained in the first specific aim hold within the context of full-length fibrillin, fibrillin constructs containing selected mutation will be overexpressed in cells which assemble overexpressed wildtype fibrillin into fibrils. In addition, selected mutant constructs will be tested for protease susceptibility in comparison to analogous wildtype constructs. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen •

Project Title: SIXTH INTERNATIONAL MARFAN SYNDROME SYMPOSIUM Principal Investigator & Institution: Byers, Peter H.; Professor; Pathology; University of Washington Seattle, Wa 98195 Timing: Fiscal Year 2001; Project Start 10-AUG-2001; Project End 31-JUL-2002 Summary: (provided by applicant): The Sixth International Marfan Syndrome Symposium will be held in Seattle, WA from August 11 -14, 2001. This meeting will bring together investigators who represent the most advanced research directed toward determining the underlying basis of Marfan Syndrome, the fundamental biology of the fibrillin genes and their interacting partners, the identification of other matrix components that are important for the construction of the elastic fiber network, the mechanisms by which the mutations are translated into the phenotypic findings, the issues of locus heterogeneity and the relationship to other disorders that result from mutations in related genes, the natural history of the disorder, the change in natural history by medical or surgical intervention, and the manner in which analysis of these genes assist in clinical decision making. The theme of the Symposium will be "Current Controversies in Research in Pathogenesis and Treatment of Marfan Syndrome and Related Disorders". These issues will be examined in five scientific sessions of approximately 3 to 3.5 hours each. The first session will be devoted to the relationship of genotype to phenotype, the role of molecular diagnostics, and the effect of mutations on

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the fibrillin proteins. The second will examine the function of fibrillitts, the cell biology of the proteins, their processing and fibrillogenesis, and interaction with other components of the matrix, and how defects in these processes lead to Marfan and other phenotypes. The third will examine the organization of tissues, the tole of fibrillins in non-Marfan phenotypes, and of other disorders that may mimic some of the Marfan phenotypes. The fourth will be devoted to issues in medical therapy, including the use of P-blockers, calcium channel blockers, and inhibitors of matrix degradation to slow the rate of aortic enlargement, the major risk factor for premature death. The fifth will examine issues surrounding cardiac surgery and surgery for lens dislocation. These issues include the use of "valve-sparing" surgery in aortic foot replacement, the timing of aortic surgery, and the role of lens removal for treatment of visual disturbance. This will be the first major gathering of investigators in three years and will be held in conjunction with the National Marfan Foundation annual meeting. The expected 125 participants should galvanize research efforts for the next years. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen •

Project Title: SLEEP DISORDERED BREATHING IN CHILDREN WITH MARFRAN SYN Principal Investigator & Institution: Marcus, Carole L.; Professor of Pediatrics; Johns Hopkins University 3400 N Charles St Baltimore, Md 21218 Timing: Fiscal Year 2001 Summary: Marfan syndrome (MFS) is an autosomal dominant disorder caused by mutations of the fibrillin locus on chromosome 15. This connective protein defect results in multisystem laxity of the extracellular microfibrillar matrix. The clinical phenotype is heterogeneous and includes age-specific cardiovascular, ocular, musculoskeletal, dermatologic, and pulmonary symptoms. Most children with MFS have valvular disease at the time of diagnoses and most will develop progressive aortic root dilatation, which may lead to aortic dissection and rupture. Preliminary data from the adult MFS literature suggests that 57% of MFS patients will have obstructive sleep apnea syndrome (OSAS). Furthermore, two case reports have documented the association between treatment of OSAS and the stabilization of aortic root dilatation. We hypothesize that the physiological changes induced by OSAS, including hypertension and large intrapleural pressure swings, could be important in the pathophysiology of MFS sequelae in children. To date, no studies have evaluated pre-adolescent MFS children for sleep-disordered breathing. Therefore, our protocol entails evaluating an unselected population of children with MFS for sleep-disordered breathing using overnight polysomnography. Therapy of sleep-disordered breathing in affected MFS children could improve their quality of life and reduce cardiovascular morbidity. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen

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Project Title: SOLID STATE NMR STUDIES OF MINERALIZED ELASTIN Principal Investigator & Institution: Kumashiro, Kristin K.; University of Hawaii at Manoa Honolulu, Hi 96822 Timing: Fiscal Year 2001; Project Start 24-SEP-2001; Project End 31-AUG-2006 Summary: (provided by applicant): This project will use high-resolution solid-state nuclear magnetic resonance (NMR) to characterize the conformational changes which accompany the mineralization of elastin in the heritable vascular and dermal disorder called pseudoxanthoma elasticum (PXE). The normal elastic fiber lends resiliency to vertebrate tissues, such as the skin and blood vessels. Its major protein component is

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elastin, which imparts elasticity to these tissues. Elastin is an insoluble, amorphous, and extensively crosslinked biopolymer, and there are no high-resolution crystallographic or solution NMR structures for this protein. Changes in elastic fiber morphology have been associated with the loss of elasticity in heritable and acquired disorders such as Marfan syndrome, supravalvular aortic stenosis, and aortic aneurysms. And, recent work by other laboratories strongly suggests that the calcification of the elastic fibers in PXE patients is a secondary consequence of a primary alteration in the structure and/or assembly of elastin. Therefore, we propose that PXE effects the introduction of new components or abnormal concentrations of typical components in elastic tissue. The abnormal chemical conditions induce conformational changes of elastin, and it is this abnormal state which undergoes mineralization. To obtain the most definitive descriptions of structural changes to elastin on the molecular level, high-resolution solid-state NMR spectroscopy will be utilized. These studies will identify the structural differences between normal elastin and several calcified states, as produced in welldefined chemical conditions. And, the characterization of the abnormal elastin, as found in the tissue of a PXE patient, will be indicative of the conditions which accompany, or even induce, mineralization. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen

E-Journals: PubMed Central3 PubMed Central (PMC) is a digital archive of life sciences journal literature developed and managed by the National Center for Biotechnology Information (NCBI) at the U.S. National Library of Medicine (NLM).4 Access to this growing archive of e-journals is free and unrestricted.5 To search, go to http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=Pmc, and type “Marfan syndrome” (or synonyms) into the search box. This search gives you access to full-text articles. The following is a sample of items found for Marfan syndrome in the PubMed Central database: •

Arch-First Technique Used with Commercial T-Graft to Treat Subacute Type-A Aortic Dissection in Patient with Marfan Syndrome. by Apaydin AZ, Posacioglu H, Yagdi T, Islamoglu F, Calkavur T, Buket S.; 2002; http://www.pubmedcentral.gov/articlerender.fcgi?tool=pmcentrez&artid=101264

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Marfan Syndrome is Closely Linked to a Marker on Chromosome 15q1.5[right arrow]q2.1. by Tsipouras P, Sarfarazi M, Devi A, Weiffenbach B, Boxer M.; 1991 May 15; http://www.pubmedcentral.gov/articlerender.fcgi?tool=pmcentrez&rendertype=abstr act&artid=51685

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Multi-exon deletions of the FBN1 gene in Marfan syndrome. by Liu W, Schrijver I, Brenn T, Furthmayr H, Francke U.; 2001; http://www.pubmedcentral.gov/articlerender.fcgi?tool=pmcentrez&artid=59835

3 4

Adapted from the National Library of Medicine: http://www.pubmedcentral.nih.gov/about/intro.html.

With PubMed Central, NCBI is taking the lead in preservation and maintenance of open access to electronic literature, just as NLM has done for decades with printed biomedical literature. PubMed Central aims to become a world-class library of the digital age. 5 The value of PubMed Central, in addition to its role as an archive, lies in the availability of data from diverse sources stored in a common format in a single repository. Many journals already have online publishing operations, and there is a growing tendency to publish material online only, to the exclusion of print.

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Two Mutations in Marfan Syndrome Resulting in Truncated Fibrillin Polypeptides. by Kainulainen K, Sakai LY, Child A, Pope FM, Puhakka L, Ryhanen L, Palotie A, Kaitila I, Peltonen L.; 1992 Jul 1; http://www.pubmedcentral.gov/articlerender.fcgi?tool=pmcentrez&rendertype=abstr act&artid=49408

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.6 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 Marfan syndrome, simply go to the PubMed Web site at http://www.ncbi.nlm.nih.gov/pubmed. Type “Marfan syndrome” (or synonyms) into the search box, and click “Go.” The following is the type of output you can expect from PubMed for Marfan syndrome (hyperlinks lead to article summaries): •

A 10-year-old boy with Marfan syndrome exhibiting cerebrovascular abnormalities. Author(s): Kondo M, Itoh S, Nagano K, Namba M, Kondo M, Imai T, Onishi S. Source: Brain & Development. 2001 July; 23(4): 251-4. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11377006&dopt=Abstract

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A comparative histologic study of the fibrillin microfibrillar system in the lens capsule of normal subjects and subjects with Marfan syndrome. Author(s): Mir S, Wheatley HM, Hussels IE, Whittum-Hudson JA, Traboulsi EI. Source: Investigative Ophthalmology & Visual Science. 1998 January; 39(1): 84-93. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9430549&dopt=Abstract

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A new on-line method for predicting aortic root dilatation during two-dimensional echocardiography in pediatric patients with Marfan syndrome using the sinus of valsalva to annulus ratio. Author(s): Mart CR, Khan SA, Smith FC, Kavey RE. Source: Pediatric Cardiology. 2003 March-April; 24(2): 118-21. Epub 2002 October 10. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12370793&dopt=Abstract

6 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 nonsense mutation in the fibrillin-1 gene of a Marfan syndrome patient induces NMD and disrupts an exonic splicing enhancer. Author(s): Caputi M, Kendzior RJ Jr, Beemon KL. Source: Genes & Development. 2002 July 15; 16(14): 1754-9. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12130535&dopt=Abstract

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A possible advance in arterial gene therapy for aortic complications in the Marfan syndrome by local transfer of an antisense Mg-dependent hammerhead ribozyme. Author(s): Durlach J. Source: Magnes Res. 2001 March; 14(1-2): 65-7. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11300623&dopt=Abstract

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A prospectus on the prevention of aortic rupture in the Marfan syndrome with data on survivorship without treatment. Author(s): Halpern BL, Char F, Murdoch JL, Horton WB, McKusick VA. Source: Johns Hopkins Med J. 1971 September; 129(3): 123-9. No Abstract Available. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=5113220&dopt=Abstract

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A recurring FBN1 gene mutation in neonatal Marfan syndrome. Author(s): Jacobs AM, Toudjarska I, Racine A, Tsipouras P, Kilpatrick MW, Shanske A. Source: Archives of Pediatrics & Adolescent Medicine. 2002 November; 156(11): 1081-5. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12413333&dopt=Abstract

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Abnormal extracellular matrix protein transport associated with increased apoptosis of vascular smooth muscle cells in marfan syndrome and bicuspid aortic valve thoracic aortic aneurysm. Author(s): Nataatmadja M, West M, West J, Summers K, Walker P, Nagata M, Watanabe T. Source: Circulation. 2003 September 9; 108 Suppl 1: Ii329-34. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12970255&dopt=Abstract

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Alternative splicing of exon 37 of FBN1 deletes part of an 'eight-cysteine' domain resulting in the Marfan syndrome. Author(s): McGrory J, Cole WG. Source: Clinical Genetics. 1999 February; 55(2): 118-21. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10189089&dopt=Abstract

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Anterior sacral meningocele as a pelvic complication of Marfan syndrome. Author(s): Voyvodic F, Scroop R, Sanders RR. Source: The Australian & New Zealand Journal of Obstetrics & Gynaecology. 1999 May; 39(2): 262-5. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10755797&dopt=Abstract

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Anterior sacral meningocele in a patient with Marfan syndrome. Author(s): Rigante D, Segni G. Source: Clin Neuropathol. 2001 March-April; 20(2): 70-2. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11327300&dopt=Abstract

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Aortic cross-sectional area/height ratio timing of aortic surgery in asymptomatic patients with Marfan syndrome. Author(s): Svensson LG, Khitin L. Source: The Journal of Thoracic and Cardiovascular Surgery. 2002 February; 123(2): 3601. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11828302&dopt=Abstract

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Aortic distensibility in children with the Marfan syndrome. Author(s): Savolainen A, Keto P, Hekali P, Nisula L, Kaitila I, Viitasalo M, Poutanen VP, Standertskjold-Nordenstam CG, Kupari M. Source: The American Journal of Cardiology. 1992 September 1; 70(6): 691-3. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1510022&dopt=Abstract

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Aortic surgery in patients with marfan syndrome: long-term survival, morbidity and function. Author(s): Lepore V, Jeppsson A, Radberg G, Mantovani V, Bugge M. Source: J Heart Valve Dis. 2001 January; 10(1): 25-30. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11206764&dopt=Abstract

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Aortic surgery in the Marfan syndrome. Author(s): David TE. Source: Adv Card Surg. 2001; 13: 61-75. No Abstract Available. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11209657&dopt=Abstract

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Aortic valve disease in Marfan syndrome. Author(s): Safi HJ, Vinnerkvist A, Bhama JK, Miller CC 3rd, Koussayer S, Haverich A. Source: Current Opinion in Cardiology. 1998 March; 13(2): 91-5. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9593547&dopt=Abstract

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Arch-first technique used with commercial T-graft to treat subacute type-A aortic dissection in patient with Marfan syndrome. Author(s): Apaydin AZ, Posacioglu H, Yagdi T, Islamoglu F, Calkavur T, Buket S. Source: Texas Heart Institute Journal / from the Texas Heart Institute of St. Luke's Episcopal Hospital, Texas Children's Hospital. 2002; 29(1): 26-9. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11995844&dopt=Abstract

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Assessment of bone mineral density in adults and children with Marfan syndrome. Author(s): Giampietro PF, Peterson M, Schneider R, Davis JG, Raggio C, Myers E, Burke SW, Boachie-Adjei O, Mueller CM. Source: Osteoporosis International : a Journal Established As Result of Cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the Usa. 2003 July; 14(7): 559-63. Epub 2003 July 03. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12845424&dopt=Abstract

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Assessment of ventricular performance after chronic beta-adrenergic blockade in the Marfan syndrome. Author(s): Reed CM, Alpert BS. Source: The American Journal of Cardiology. 1992 August 15; 70(4): 541-2. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1353657&dopt=Abstract

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Asymptomatic aortic dissection in Marfan syndrome. Author(s): Wong T, Kilner PJ, Gatzoulis MA. Source: Heart (British Cardiac Society). 2002 January; 87(1): 66. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11751669&dopt=Abstract

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Bacterial endocarditis of mitral valve in Marfan syndrome. Author(s): Soman VR, Breton G, Hershkowitz M, Mark H. Source: British Heart Journal. 1974 December; 36(12): 1247-50. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=4441458&dopt=Abstract

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Basic defects in Marfan syndrome. Author(s): Pyeritz RE, McKusick VA. Source: The New England Journal of Medicine. 1981 October 22; 305(17): 1011-2. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7278913&dopt=Abstract

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Bentall operation for a child with Marfan syndrome: a case report. Author(s): Miura M, Shimazaki Y, Watanabe T, Iijima Y, Kuraoka S, Inui K, Oshikirl T, Uchida T, Nakasato M. Source: Journal of Cardiac Surgery. 1997 March-April; 12(2): 116-9. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9271733&dopt=Abstract

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Bentall operation, total aortic replacement and mitral valve replacement for a young adult with Marfan syndrome: a case of three-staged operation. Author(s): Inui K, Shimazaki Y, Watanabe T, Kuraoka S, Minowa T, Miura M, Oshikiri S, Toyama H. Source: Ann Thorac Cardiovasc Surg. 1998 August; 4(4): 222-5. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9738127&dopt=Abstract

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Bilateral renal vein thrombosis and nephrotic syndrome in a patient with the Marfan syndrome. Author(s): Alarcon-Segovia D, Fierro FJ, Villalobos JD, Dies F. Source: Dis Chest. 1968 August; 54(2): 153-6. No Abstract Available. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=5665305&dopt=Abstract

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Biliary tract manifestations of the Marfan syndrome. Author(s): Merza AP, Raiser MW. Source: The American Journal of Gastroenterology. 1987 August; 82(8): 779-82. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=3605039&dopt=Abstract

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Biophysical properties of the normal-sized aorta in patients with Marfan syndrome: evaluation with MR flow mapping. Author(s): Groenink M, de Roos A, Mulder BJ, Verbeeten B Jr, Timmermans J, Zwinderman AH, Spaan JA, van der Wall EE. Source: Radiology. 2001 May; 219(2): 535-40. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11323484&dopt=Abstract

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Bone mineral density in adults with Marfan syndrome. Author(s): Carter N, Duncan E, Wordsworth P. Source: Rheumatology (Oxford, England). 2000 March; 39(3): 307-9. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10788540&dopt=Abstract

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Bone mineral density in Marfan syndrome. Author(s): Le Parc JM, Molcard S, Tubach F. Source: Rheumatology (Oxford, England). 2001 March; 40(3): 358-9. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11285399&dopt=Abstract

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Bone mineral density in sixty adult patients with Marfan syndrome. Author(s): Le Parc JM, Plantin P, Jondeau G, Goldschild M, Albert M, Boileau C. Source: Osteoporosis International : a Journal Established As Result of Cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the Usa. 1999; 10(6): 475-9. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10663348&dopt=Abstract

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Bone mineral status of women with Marfan syndrome. Author(s): Kohlmeier L, Gasner C, Marcus R. Source: The American Journal of Medicine. 1993 December; 95(6): 568-72. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8259773&dopt=Abstract

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Bronchial hyperreactivity in children with Marfan syndrome. Author(s): Konig P, Boxer R, Morrison J, Pletcher B. Source: Pediatric Pulmonology. 1991; 11(1): 29-36. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1923665&dopt=Abstract

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Cardiovascular manifestations in Marfan syndrome. Author(s): Figueiredo S, Martins E, Lima MR, Alvares S. Source: Rev Port Cardiol. 2001 December; 20(12): 1203-18. English, Portuguese. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11865681&dopt=Abstract

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Cardiovascular surgery for Marfan syndrome. Author(s): Treasure T. Source: Heart (British Cardiac Society). 2000 December; 84(6): 674-8. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11083754&dopt=Abstract

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Case 47: dural ectasia associated with Marfan syndrome. Author(s): Ho NC, Hadley DW, Jain PK, Francomano CA. Source: Radiology. 2002 June; 223(3): 767-71. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12034948&dopt=Abstract

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Central pulse pressure is a major determinant of ascending aorta dilation in Marfan syndrome. Author(s): Jondeau G, Boutouyrie P, Lacolley P, Laloux B, Dubourg O, Bourdarias JP, Laurent S. Source: Circulation. 1999 May 25; 99(20): 2677-81. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10338462&dopt=Abstract

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Changes of elastic fibers in musculoskeletal tissues of Marfan syndrome: a possible mechanism of joint laxity and skeletal overgrowth. Author(s): Gigante A, Chillemi C, Greco F. Source: Journal of Pediatric Orthopedics. 1999 May-June; 19(3): 283-8. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10344308&dopt=Abstract

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Characterization of microsatellite markers flanking FBN1: utility in the diagnostic evaluation for Marfan syndrome. Author(s): Judge DP, Biery NJ, Dietz HC. Source: American Journal of Medical Genetics. 2001 February 15; 99(1): 39-47. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11170092&dopt=Abstract

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Characterization of mutations leading to recessive dystrophic epidermolysis bullosa and Marfan syndrome in a single patient. Author(s): Gardella R, Nuytinck L, Barlati S, Van Acker P, Tadini G, De Paepe A, Colombi M. Source: Clinical and Experimental Dermatology. 2001 November; 26(8): 710-3. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11722462&dopt=Abstract

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Classic, atypically severe and neonatal Marfan syndrome: twelve mutations and genotype-phenotype correlations in FBN1 exons 24-40. Author(s): Tiecke F, Katzke S, Booms P, Robinson PN, Neumann L, Godfrey M, Mathews KR, Scheuner M, Hinkel GK, Brenner RE, Hovels-Gurich HH, Hagemeier C, Fuchs J, Skovby F, Rosenberg T. Source: European Journal of Human Genetics : Ejhg. 2001 January; 9(1): 13-21. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11175294&dopt=Abstract

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Clinical considerations in the chiropractic management of the patient with Marfan syndrome. Author(s): Murphy DR. Source: Journal of Manipulative and Physiological Therapeutics. 2002 October; 25(8): 542. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12381982&dopt=Abstract

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Clinical considerations in the chiropractic management of the patient with Marfan syndrome. Author(s): Tuling JR, Crowther ET, McCord P. Source: Journal of Manipulative and Physiological Therapeutics. 2000 September; 23(7): 498-502. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11004655&dopt=Abstract

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Clinical, pathological and molecular genetic findings in a case of neonatal Marfan syndrome. Author(s): Bresters D, Nikkels PG, Meijboom EJ, Hoorntje TM, Pals G, Beemer FA. Source: Acta Paediatrica (Oslo, Norway : 1992). 1999 January; 88(1): 98-101. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10090557&dopt=Abstract

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Coil embolization of a gluteal false aneurysm in a patient with Marfan syndrome. Author(s): Vasseur MA, Doisy VC, Prat AG, Stankowiak C. Source: Journal of Vascular Surgery : Official Publication, the Society for Vascular Surgery [and] International Society for Cardiovascular Surgery, North American Chapter. 1998 January; 27(1): 177-9. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9474097&dopt=Abstract

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Comparison of aortic elasticity in patients with the marfan syndrome with and without aortic root replacement. Author(s): Nollen GJ, Meijboom LJ, Groenink M, Timmermans J, Barentsz JO, Merchant N, Webb GD, Lamb HJ, Tijssen JG, Van der Wall EE, Mulder BJ. Source: The American Journal of Cardiology. 2003 March 1; 91(5): 637-40. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12615284&dopt=Abstract

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Comparison of outcome of the Marfan Syndrome in patients diagnosed at age < or =6 years versus those diagnosed at >6 years of age. Author(s): Yetman AT, Huang P, Bornemeier RA, McCrindle BW. Source: The American Journal of Cardiology. 2003 January 1; 91(1): 102-3. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12505586&dopt=Abstract

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Congenital obstructive azoospermia in a man with Marfan syndrome. Author(s): Kukuvitis A, Georgiou I, Ioannidis S, Tarlatzis B, Bontis J, Papadimas J. Source: Fertility and Sterility. 2001 December; 76(6): 1256-7. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11730760&dopt=Abstract

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Corneal endothelium in Marfan syndrome. A clinical and specular microscopic study. Author(s): Setala K, Ruusuvaara P, Karjalainen K. Source: Acta Ophthalmol (Copenh). 1988 June; 66(3): 334-40. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10994457&dopt=Abstract

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Coronary artery aneurysm in a patient with Marfan syndrome. Author(s): Onoda K, Tanaka K, Yuasa U, Shimono T, Shimpo H, Yada I. Source: The Annals of Thoracic Surgery. 2001 October; 72(4): 1374-7. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11603469&dopt=Abstract

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Correlation of a recurrent FBN1 mutation (R122C) with an atypical familial Marfan syndrome phenotype. Author(s): Black C, Withers AP, Gray JR, Bridges AB, Craig A, Baty DU, Boxer M. Source: Human Mutation. 1998; Suppl 1: S198-200. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9452085&dopt=Abstract

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Cosegregation of the Marfan syndrome and the long QT syndrome in the same family leads to a severe cardiac phenotype. Author(s): Probst V, Allouis M, Kyndt F, Lande G, Trochu JN, Schott JJ, Le Marec H. Source: The American Journal of Cardiology. 2003 March 1; 91(5): 635-7. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12615283&dopt=Abstract

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Craniofacial manifestations in the Marfan syndrome: palatal dimensions and a comparative cephalometric analysis. Author(s): Westling L, Mohlin B, Bresin A. Source: Journal of Craniofacial Genetics and Developmental Biology. 1998 OctoberDecember; 18(4): 211-8. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10100050&dopt=Abstract

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Decreased extracellular deposition of fibrillin and decorin in neonatal Marfan syndrome fibroblasts. Author(s): Raghunath M, Superti-Furga A, Godfrey M, Steinmann B. Source: Human Genetics. 1993 January; 90(5): 511-5. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8428751&dopt=Abstract

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Deficiencies of fibrillin and decorin in fibroblast cultures of a patient with neonatal Marfan syndrome. Author(s): Superti-Furga A, Raghunath M, Willems PJ. Source: Journal of Medical Genetics. 1992 December; 29(12): 875-8. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1479602&dopt=Abstract

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Deficient expression of the gene coding for decorin in a lethal form of Marfan syndrome. Author(s): Pulkkinen L, Kainulainen K, Krusius T, Makinen P, Schollin J, Gustavsson KH, Peltonen L. Source: The Journal of Biological Chemistry. 1990 October 15; 265(29): 17780-5. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=2211661&dopt=Abstract

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Delusions in Marfan syndrome. Author(s): van Bavel LP, van Hoof JJ, Unck F, Bouwens JM. Source: The Journal of Clinical Psychiatry. 1989 December; 50(12): 473. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=2600067&dopt=Abstract

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Denaturing HPLC-identified novel FBN1 mutations, polymorphisms, and sequence variants in Marfan syndrome and related connective tissue disorders. Author(s): Liu WO, Oefner PJ, Qian C, Odom RS, Francke U. Source: Genetic Testing. 1997-98; 1(4): 237-42. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10464652&dopt=Abstract

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Detection of abnormal aortic elastic properties in asymptomatic patients with Marfan syndrome by combined transoesophageal echocardiography and acoustic quantification. Author(s): Franke A, Muhler EG, Klues HG, Peters K, Lepper W, von Bernuth G, Hanrath P. Source: Heart (British Cardiac Society). 1996 March; 75(3): 307-11. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8800998&dopt=Abstract

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Detection of six novel FBN1 mutations in British patients affected by Marfan syndrome. Author(s): Comeglio P, Evans AL, Brice GW, Child AH. Source: Human Mutation. 2001 September; 18(3): 251. Corrected and Republished In: http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11524736&dopt=Abstract

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Developmental dysplasia of the hip in Marfan syndrome. Author(s): Sponseller PD, Tomek IM, Pyertiz RE. Source: Journal of Pediatric Orthopaedics. Part B / European Paediatric Orthopaedic Society, Pediatric Orthopaedic Society of North America. 1997 October; 6(4): 255-9. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9343785&dopt=Abstract

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Diagnosing Marfan syndrome is still based on clinical characteristics. Author(s): Moodie DS. Source: Cleve Clin J Med. 1998 April; 65(4): 176, 179-81. No Abstract Available. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9597782&dopt=Abstract

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Diagnosing Marfan syndrome. Author(s): Mellion MB. Source: Heart Dis Stroke. 1994 September-October; 3(5): 241-5. Review. No Abstract Available. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7820339&dopt=Abstract

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Diagnosis and management of infantile marfan syndrome. Author(s): Morse RP, Rockenmacher S, Pyeritz RE, Sanders SP, Bieber FR, Lin A, MacLeod P, Hall B, Graham JM Jr. Source: Pediatrics. 1990 December; 86(6): 888-95. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=2251026&dopt=Abstract

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Diastolic subclinical primary alterations in Marfan syndrome and Marfan-related disorders. Author(s): Porciani MC, Giurlani L, Chelucci A, Pepe G, Giusti BH, Brunelli T, Attanasio M, Martinucci P, Fattrori R, Abbatea R, Gensini GF. Source: Clin Cardiol. 2002 September; 25(9): 416-20. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12269520&dopt=Abstract

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Differential allelic expression of a fibrillin gene (FBN1) in patients with Marfan syndrome. Author(s): Hewett D, Lynch J, Child A, Firth H, Sykes B. Source: American Journal of Human Genetics. 1994 September; 55(3): 447-52. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7915876&dopt=Abstract

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Dissecting basilar artery aneurysm in Marfan syndrome: case report. Author(s): Rose BS, Pretorius DL. Source: Ajnr. American Journal of Neuroradiology. 1991 May-June; 12(3): 503-4. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=2058501&dopt=Abstract

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DNA diagnostics of the Marfan syndrome: application of amplifiable polymorphic markers. Author(s): Rantamaki T, Lonnqvist L, Karttunen L, Kainulainen K, Peltonen L. Source: European Journal of Human Genetics : Ejhg. 1994; 2(1): 66-75. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8044654&dopt=Abstract

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Dolichonychia in a patient with the Marfan syndrome. Author(s): Cohen PR, Milewicz DM. Source: The Journal of Dermatology. 1993 December; 20(12): 779-82. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8120241&dopt=Abstract

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Double mutant fibrillin-1 (FBN1) allele in a patient with neonatal Marfan syndrome. Author(s): Wang M, Kishnani P, Decker-Phillips M, Kahler SG, Chen YT, Godfrey M. Source: Journal of Medical Genetics. 1996 September; 33(9): 760-3. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8880577&dopt=Abstract

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Dural ectasia in the Marfan syndrome: MR and CT findings and criteria. Author(s): Ahn NU, Sponseller PD, Ahn UM, Nallamshetty L, Rose PS, Buchowski JM, Garrett ES, Kuszyk BS, Fishman EK, Zinreich SJ. Source: Genetics in Medicine : Official Journal of the American College of Medical Genetics. 2000 May-June; 2(3): 173-9. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11256662&dopt=Abstract

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Dural ectasia is associated with back pain in Marfan syndrome. Author(s): Ahn NU, Sponseller PD, Ahn UM, Nallamshetty L, Kuszyk BS, Zinreich SJ. Source: Spine. 2000 June 15; 25(12): 1562-8. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10851107&dopt=Abstract

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Dysregulation of TGF-beta activation contributes to pathogenesis in Marfan syndrome. Author(s): Neptune ER, Frischmeyer PA, Arking DE, Myers L, Bunton TE, Gayraud B, Ramirez F, Sakai LY, Dietz HC. Source: Nature Genetics. 2003 March; 33(3): 407-11. Epub 2003 February 24. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12598898&dopt=Abstract

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Early and long-term results of a valve-sparing operation for Marfan syndrome. Author(s): Birks EJ, Webb C, Child A, Radley-Smith R, Yacoub MH. Source: Circulation. 1999 November 9; 100(19 Suppl): Ii29-35. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10567275&dopt=Abstract

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Echocardiographic diagnosis of fetal Marfan syndrome at 34 weeks' gestation. Author(s): Lopes LM, Cha SC, de Moraes EA, Zugaib M. Source: Prenatal Diagnosis. 1995 February; 15(2): 183-5. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7784372&dopt=Abstract

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Ectopia lentis as part of the Marfan syndrome. Author(s): Murdoch JL. Source: Birth Defects Orig Artic Ser. 1971 March; 7(3): 167-9. No Abstract Available. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=4375504&dopt=Abstract

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Effect of beta-adrenergic blockade on aortic root rate of dilation in the Marfan syndrome. Author(s): Salim MA, Alpert BS, Ward JC, Pyeritz RE. Source: The American Journal of Cardiology. 1994 September 15; 74(6): 629-33. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7915491&dopt=Abstract

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Effect of long-term beta-blockade on aortic root compliance in patients with Marfan syndrome. Author(s): Rios AS, Silber EN, Bavishi N, Varga P, Burton BK, Clark WA, Denes P. Source: American Heart Journal. 1999 June; 137(6): 1057-61. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10347331&dopt=Abstract

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Eight novel mutations of the FBN1 gene found in Japanese patients with Marfan syndrome. Author(s): Matsukawa R, Iida K, Nakayama M, Mukai T, Okita Y, Ando M, Takamoto S, Nakajima N, Morisaki H, Morisaki T. Source: Human Mutation. 2001; 17(1): 71-2. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11139245&dopt=Abstract

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Elastin and collagen in the aortic wall: changes in the Marfan syndrome and annuloaortic ectasia. Author(s): Halme T, Savunen T, Aho H, Vihersaari T, Penttinen R. Source: Experimental and Molecular Pathology. 1985 August; 43(1): 1-12. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=4007138&dopt=Abstract

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Elemental composition of human aorta in Marfan syndrome. Author(s): Cichocki T, Heck D, Jarczyk L, Rokita E, Strzalkowski A, Sych M. Source: Pathologica. 1987 July-August; 79(1062): 483-8. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=3451165&dopt=Abstract

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Elucidation of the gene defect in Marfan syndrome. Success by two complementary research strategies. Author(s): Peltonen L, Kainulainen K. Source: Febs Letters. 1992 July 27; 307(1): 116-21. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1639186&dopt=Abstract

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Endoluminal replacement of the entire aorta for acute type A aortic dissection in a patient with Marfan syndrome. Author(s): Massimo CG, Wang ZG, Cruz Guadron EA, Rappa HG, Crisci C, Artounian VR. Source: The Journal of Thoracic and Cardiovascular Surgery. 2000 October; 120(4): 81820. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11003772&dopt=Abstract

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Endothelial function in Marfan syndrome: selective impairment of flow-mediated vasodilation. Author(s): Wilson DG, Bellamy MF, Ramsey MW, Goodfellow J, Brownlee M, Davies S, Wilson JF, Lewis MJ, Stuart AG. Source: Circulation. 1999 February 23; 99(7): 909-15. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10027814&dopt=Abstract

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Enzymatic mutation detection (EMD) of novel mutations (R565X and R1523X) in the FBN1 gene of patients with Marfan syndrome using T4 endonuclease VII. Author(s): Youil R, Toner TJ, Bull E, Bailey AL, Earl CD, Dietz HC, Montgomery RA. Source: Human Mutation. 2000 July; 16(1): 92-3. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10874320&dopt=Abstract

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Erratum: Detection of six novel FBN1 mutations in British patients affected by Marfan syndrome. Author(s): Comeglio P, Evans AL, Brice GW, Child AH. Source: Human Mutation. 2001 December; 18(6): 546-7. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11748851&dopt=Abstract

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Estrogen treatment of excessively tall girls with Marfan syndrome. Author(s): Knudtzon J, Aarskog D. Source: Acta Paediatr Scand. 1988 July; 77(4): 537-41. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=3394507&dopt=Abstract

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Evaluation and application of denaturing HPLC for mutation detection in Marfan syndrome: Identification of 20 novel mutations and two novel polymorphisms in the FBN1 gene. Author(s): Matyas G, De Paepe A, Halliday D, Boileau C, Pals G, Steinmann B. Source: Human Mutation. 2002 April; 19(4): 443-56. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11933199&dopt=Abstract

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Evaluation of the aorta in the Marfan syndrome by magnetic resonance imaging. Author(s): Boxer RA, LaCorte MA, Singh S, Davis J, Goldman M, Stein HL. Source: American Heart Journal. 1986 May; 111(5): 1001-2. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=3706100&dopt=Abstract

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Exclusion of the alpha 2(I) and alpha 1(III) collagen genes as the mutant loci in a Marfan syndrome family. Author(s): Dalgleish R, Hawkins JR, Keston M. Source: Journal of Medical Genetics. 1987 March; 24(3): 148-51. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=2883320&dopt=Abstract

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Exercise and the Marfan syndrome. Author(s): Braverman AC. Source: Medicine and Science in Sports and Exercise. 1998 October; 30(10 Suppl): S38795. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9789865&dopt=Abstract

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Expression of peroxisome proliferator-activated receptor-gamma in vascular smooth muscle cells is upregulated in cystic medial degeneration of annuloaortic ectasia in Marfan syndrome. Author(s): Sakomura Y, Nagashima H, Aoka Y, Uto K, Sakuta A, Aomi S, Kurosawa H, Nishikawa T, Kasanuki H. Source: Circulation. 2002 September 24; 106(12 Suppl 1): I259-63. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12354743&dopt=Abstract

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Extensive aortic reconstruction for aortic aneurysms in Marfan syndrome. Author(s): Niinami H, Aomi S, Tagusari O, Hashimoto A, Koyanagi H. Source: The Annals of Thoracic Surgery. 1999 June; 67(6): 1864-7; Discussion 1868-70. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10391328&dopt=Abstract

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Familial multiple bilateral pneumothorax associated with Marfan syndrome. Author(s): Yellin A, Shiner RJ, Lieberman Y. Source: Chest. 1991 August; 100(2): 577-8. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1864149&dopt=Abstract

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Family history of severe cardiovascular disease in Marfan syndrome is associated with increased aortic diameter and decreased survival. Author(s): Silverman DI, Gray J, Roman MJ, Bridges A, Burton K, Boxer M, Devereux RB, Tsipouras P. Source: Journal of the American College of Cardiology. 1995 October; 26(4): 1062-7. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7560600&dopt=Abstract

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Family studies of the Marfan syndrome. Author(s): Keech MK, Wendt VE, Read RC, Bistue AR, Bianchi FA. Source: J Chronic Dis. 1966 January; 19(1): 57-83. No Abstract Available. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=5903855&dopt=Abstract

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FBN1 exon 2 splicing error in a patient with Marfan syndrome. Author(s): Guo D, Tan FK, Cantu A, Plon SE, Milewicz DM. Source: American Journal of Medical Genetics. 2001 June 15; 101(2): 130-4. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11391655&dopt=Abstract

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FBN1 mutation in Chinese patients with Marfan syndrome and its gene diagnosis using haplotype linkage analysis. Author(s): Wang B, Hu D, Xia J, Li Q, Yang J, Lu G. Source: Chinese Medical Journal. 2003 July; 116(7): 1043-6. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12890380&dopt=Abstract

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Fetal Marfan syndrome: prenatal ultrasound diagnosis with pathological confirmation of skeletal and aortic lesions. Author(s): Koenigsberg M, Factor S, Cho S, Herskowitz A, Nitowsky H, Morecki R. Source: Prenatal Diagnosis. 1981 October; 1(4): 241-7. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7346827&dopt=Abstract

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Fibrillin (FBN1) mutations in Marfan syndrome. Author(s): Hayward C, Keston M, Brock DJ, Dietz HC. Source: Human Mutation. 1992; 1(1): 79. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1301195&dopt=Abstract

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Fibrillin abnormalities and prognosis in Marfan syndrome and related disorders. Author(s): Aoyama T, Francke U, Gasner C, Furthmayr H. Source: American Journal of Medical Genetics. 1995 August 28; 58(2): 169-76. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8533811&dopt=Abstract

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Fibrillin domain folding and calcium binding: significance to Marfan syndrome. Author(s): Wu YS, Bevilacqua VL, Berg JM. Source: Chemistry & Biology. 1995 February; 2(2): 91-7. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9383409&dopt=Abstract

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Fibrillin gene (FBN1) mutations in Japanese patients with Marfan syndrome. Author(s): Chikumi H, Yamamoto T, Ohta Y, Nanba E, Nagata K, Ninomiya H, Narasaki K, Katoh T, Hisatome I, Ono K, Tanaka Y, Kuroda H, Ohgi S. Source: Journal of Human Genetics. 2000; 45(2): 115-8. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10721679&dopt=Abstract

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Fibrillin-1 mutations in Marfan syndrome and other type-1 fibrillinopathies. Author(s): Hayward C, Brock DJ. Source: Human Mutation. 1997; 10(6): 415-23. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9401003&dopt=Abstract

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Fibrillln mutations in Marfan syndrome and related phenotypes. Author(s): Ramirez F. Source: Current Opinion in Genetics & Development. 1996 June; 6(3): 309-15. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8791520&dopt=Abstract

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Fibulin-2: genetic mapping and exclusion as a candidate gene in Marfan syndrome type 2. Author(s): Collod G, Chu ML, Sasaki T, Coulon M, Timpl R, Renkart L, Weissenbach J, Jondeau G, Bourdarias JP, Junien C, Boileau C. Source: European Journal of Human Genetics : Ejhg. 1996; 4(5): 292-5. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8946175&dopt=Abstract

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Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons. Author(s): Nijbroek G, Sood S, McIntosh I, Francomano CA, Bull E, Pereira L, Ramirez F, Pyeritz RE, Dietz HC. Source: American Journal of Human Genetics. 1995 July; 57(1): 8-21. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7611299&dopt=Abstract

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Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome. Author(s): Dietz HC, McIntosh I, Sakai LY, Corson GM, Chalberg SC, Pyeritz RE, Francomano CA. Source: Genomics. 1993 August; 17(2): 468-75. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8406497&dopt=Abstract

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Fragile lung in the Marfan syndrome. Author(s): Turner JA, Stanley NN. Source: Thorax. 1976 December; 31(6): 771-5. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1013948&dopt=Abstract

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Frequency of coronary ostial aneurysms after aortic root surgery in patients with the Marfan syndrome. Author(s): Meijboom LJ, Nollen GJ, Merchant N, Webb GD, Groenink M, David TE, de Mol BA, Tijssen JG, Romkes H, Mulder BJ. Source: The American Journal of Cardiology. 2002 May 1; 89(9): 1135-8. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11988211&dopt=Abstract

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From fluorescence to the gene: the skin in the Marfan syndrome. Author(s): Godfrey M. Source: The Journal of Investigative Dermatology. 1994 November; 103(5 Suppl): 58S62S. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7963686&dopt=Abstract

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Fusiform aneurysm of the scalp: an unusual cause of focal headache in Marfan syndrome. Author(s): Garcia-Pastor A, Guillem-Mesado A, Salinero-Paniagua J, Gimenez-Roldan S. Source: Headache. 2002 October; 42(9): 908-10. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12390619&dopt=Abstract

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Gene symbol: FBN1. Disease: Marfan syndrome. Author(s): Comeglio P, Evans AL, Brice GW, Anderlid BM, Child AH. Source: Human Genetics. 2003 January; 112(1): 104. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12575662&dopt=Abstract

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Genes and gene products involved in Marfan syndrome. Author(s): Francke U, Furthmayr H. Source: Semin Thorac Cardiovasc Surg. 1993 January; 5(1): 3-10. Review. No Abstract Available. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8425000&dopt=Abstract

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Genetic counseling of families with Marfan syndrome and other disorders showing a Marfanoid body habitus. Author(s): Bard LA. Source: Ophthalmology. 1979 October; 86(10): 1764-93. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=317927&dopt=Abstract

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Genetic linkage of the Marfan syndrome, ectopia lentis, and congenital contractural arachnodactyly to the fibrillin genes on chromosomes 15 and 5. The International Marfan Syndrome Collaborative Study. Author(s): Tsipouras P, Del Mastro R, Sarfarazi M, Lee B, Vitale E, Child AH, Godfrey M, Devereux RB, Hewett D, Steinmann B, et al. Source: The New England Journal of Medicine. 1992 April 2; 326(14): 905-9. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1542340&dopt=Abstract

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Genomic organization of the sequence coding for fibrillin, the defective gene product in Marfan syndrome. Author(s): Pereira L, D'Alessio M, Ramirez F, Lynch JR, Sykes B, Pangilinan T, Bonadio J. Source: Human Molecular Genetics. 1993 October; 2(10): 1762. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8268958&dopt=Abstract

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Genomic organization of the sequence coding for fibrillin, the defective gene product in Marfan syndrome. Author(s): Pereira L, D'Alessio M, Ramirez F, Lynch JR, Sykes B, Pangilinan T, Bonadio J. Source: Human Molecular Genetics. 1993 July; 2(7): 961-8. Erratum In: http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8364578&dopt=Abstract

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Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome. Author(s): Loeys B, Nuytinck L, Delvaux I, De Bie S, De Paepe A. Source: Archives of Internal Medicine. 2001 November 12; 161(20): 2447-54. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11700157&dopt=Abstract

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Glaucoma in the Marfan syndrome. Author(s): Izquierdo NJ, Traboulsi EI, Enger C, Maumenee IH. Source: Trans Am Ophthalmol Soc. 1992; 90: 111-7; Discussion 118-22. No Abstract Available. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1494814&dopt=Abstract

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Marfan Syndrome

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Growth and anthropometrics in the Marfan syndrome. Author(s): Pyeritz RE, Murphy EA, Lin SJ, Rosell EM. Source: Prog Clin Biol Res. 1985; 200: 355-66. No Abstract Available. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=4080744&dopt=Abstract

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Growth and maturation in Marfan syndrome. Author(s): Erkula G, Jones KB, Sponseller PD, Dietz HC, Pyeritz RE. Source: American Journal of Medical Genetics. 2002 April 22; 109(2): 100-15. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11977157&dopt=Abstract

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Hemopneumothorax associated with Marfan syndrome and congenital afibrinogenemia. Author(s): Kanno R, Suzuki H, Fujiu K, Yoshino Y, Ohishi A, Gotoh M. Source: The Annals of Thoracic Surgery. 2003 April; 75(4): 1304-6. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12683581&dopt=Abstract

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Heparin resistance and Marfan syndrome: is there any correlation? Author(s): Choudhury M, Kiran U, Saxena N, Saxena R. Source: Journal of Cardiothoracic and Vascular Anesthesia. 2002 February; 16(1): 75-9. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11854884&dopt=Abstract

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Heterogeneous aortic response to acute beta-adrenergic blockade in Marfan syndrome. Author(s): Haouzi A, Berglund H, Pelikan PC, Maurer G, Siegel RJ. Source: American Heart Journal. 1997 January; 133(1): 60-3. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9006291&dopt=Abstract

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Hiatus/paraesophageal hernias in neonatal Marfan syndrome. Author(s): Parida SK, Kriss VM, Hall BD. Source: American Journal of Medical Genetics. 1997 October 17; 72(2): 156-8. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9382135&dopt=Abstract

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Histidinemia with features of the Marfan syndrome. Author(s): Stevens R, Cross HE, Morrow G 3rd. Source: The Journal of Pediatrics. 1975 June; 86(6): 907-10. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1127531&dopt=Abstract

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Histomorphometric parameters and susceptibility to neutrophil elastase degradation of skin elastic fibres from healthy individuals and patients with Marfan syndrome, Ehlers-Danlos type IV, and pseudoxanthoma elasticum. Author(s): Berteretche MV, Hornebeck W, Pellat B, Bardon CB, Godeau G. Source: The British Journal of Dermatology. 1995 December; 133(6): 836-41. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8547032&dopt=Abstract

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Histopathology of striae distensae, with special reference to striae and wound healing in the Marfan syndrome. Author(s): Pinkus H, Keech MK, Mehregan AH. Source: The Journal of Investigative Dermatology. 1966 March; 46(3): 283-92. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=5930896&dopt=Abstract

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Homocystinuria simulating the Marfan syndrome. Author(s): Schimke RN, McKusick VA, Pollack AD. Source: Trans Assoc Am Physicians. 1965; 78: 60-72. No Abstract Available. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=5864983&dopt=Abstract

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Homozygosity for autosomal dominant Marfan syndrome. Author(s): Chemke J, Nisani R, Feigl A, Garty R, Cooper M, Barash Y, Duksin D. Source: Journal of Medical Genetics. 1984 June; 21(3): 173-7. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=6748012&dopt=Abstract

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Hypercoagulability in a patient with Marfan syndrome. Author(s): Humphries JE, Stouffer GA, Kelly TE, Rose CE Jr. Source: Journal of Medical Genetics. 1991 May; 28(5): 349-51. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1865476&dopt=Abstract

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Hypotony caused by scleral buckle erosion in Marfan syndrome. Author(s): Deramo VA, Haupert CL, Fekrat S, Postel EA. Source: American Journal of Ophthalmology. 2001 September; 132(3): 429-31. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11530070&dopt=Abstract

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Identification of 8 new mutations in Brazilian families with Marfan syndrome. Mutations in brief no. 211. Online. Author(s): Perez AB, Pereira LV, Brunoni D, Zatz M, Passos-Bueno MR. Source: Human Mutation. 1999; 13(1): 84. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10189222&dopt=Abstract

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Identification of 9 novel FBN1 mutations in German patients with Marfan syndrome. Author(s): El-Aleem AA, Karck M, Haverich A, Schmidtke J, Arslan-Kirchner M. Source: Human Mutation. 1999 August 19; 14(2): 181. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10425041&dopt=Abstract

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Identification of defects in the fibrillin gene and protein in individuals with the Marfan syndrome and related disorders. Author(s): Milewicz DM. Source: Texas Heart Institute Journal / from the Texas Heart Institute of St. Luke's Episcopal Hospital, Texas Children's Hospital. 1994; 21(1): 22-9. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8180508&dopt=Abstract

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Identify and manage marfan syndrome in children. Author(s): Ryan-Krause P. Source: The Nurse Practitioner. 2002 October; 27(10): 26, 31-6; Quiz 37. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12394586&dopt=Abstract

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Idiopathic dilatation of the aorta with dissection in a family without Marfan syndrome. Author(s): Teien D, Finley JP, Murphy DA, Lacson A, Longhi J, Gillis DA. Source: Acta Paediatr Scand. 1991 December; 80(12): 1246-9. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1785300&dopt=Abstract

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Images in cardiology: The “thumb and wrist sign” in Marfan syndrome. Author(s): Cocco G. Source: Heart (British Cardiac Society). 2001 December; 86(6): 602. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11711445&dopt=Abstract

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Images in cardiovascular medicine. Simultaneous “Tirone David-V” valve-sparing aortic root replacement and radical mitral valve repair for the Marfan syndrome with Barlow syndrome. Author(s): Demers P, Liang D, Miller DC. Source: Circulation. 2003 October 21; 108(16): E116-7. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=14568889&dopt=Abstract

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Immunohistochemical localization of fibrillin in human ocular tissues. Relevance to the Marfan syndrome. Author(s): Wheatley HM, Traboulsi EI, Flowers BE, Maumenee IH, Azar D, Pyeritz RE, Whittum-Hudson JA. Source: Archives of Ophthalmology. 1995 January; 113(1): 103-9. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7826283&dopt=Abstract

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Immunohistologic abnormalities of the microfibrillar-fiber system in the Marfan syndrome. Author(s): Hollister DW, Godfrey M, Sakai LY, Pyeritz RE. Source: The New England Journal of Medicine. 1990 July 19; 323(3): 152-9. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=2194127&dopt=Abstract

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Impact of laboratory molecular diagnosis on contemporary diagnostic criteria for genetically transmitted cardiovascular diseases:hypertrophic cardiomyopathy, longQT syndrome, and Marfan syndrome. A statement for healthcare professionals from the Councils on Clinical Cardiology, Cardiovascular Disease in the Young, and Basic Science, American Heart Association] Author(s): Maron BJ, Moller JH, Seidman CE, Vincent GM, Dietz HC, Moss AJ, Sondheimer HM, Pyeritz RE, McGee G, Epstein AE. Source: Circulation. 1998 October 6; 98(14): 1460-71. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9841131&dopt=Abstract

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Infantile scoliosis in Marfan syndrome. Author(s): Sponseller PD, Sethi N, Cameron DE, Pyeritz RE. Source: Spine. 1997 March 1; 22(5): 509-16. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9076882&dopt=Abstract

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Inhibited maturation of collagen in lathyrism as a model for the Marfan syndrome and its implications. Author(s): Ryback R. Source: Gerontologia. 1965; 11(1): 120-6. Review. No Abstract Available. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=5323438&dopt=Abstract

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Internal mammary artery aneurysm in Marfan syndrome: case report. Author(s): Common AA, Pressacco J, Wilson JK. Source: Canadian Association of Radiologists Journal = Journal L'association Canadienne Des Radiologistes. 1999 February; 50(1): 47-50. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10047752&dopt=Abstract

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Intrasacral meningocele in a patient with Marfan syndrome. Case report. Author(s): Harkens KL, el-Khoury GY. Source: Spine. 1990 June; 15(6): 610-2. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=2402705&dopt=Abstract

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Iridocorneal adhesions in patients with the Marfan syndrome. Author(s): Arnold PJ, Donohoe MJ, Greenwald MJ, Mets MB. Source: Ophthalmic Genetics. 1999 December; 20(4): 265-9. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10617925&dopt=Abstract

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Is Marfan syndrome associated with symptomatic intracranial aneurysms? Author(s): van den Berg JS, Limburg M, Hennekam RC. Source: Stroke; a Journal of Cerebral Circulation. 1996 January; 27(1): 10-2. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8553383&dopt=Abstract

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Is the metacarpal index useful in the diagnosis of Marfan syndrome? Author(s): Thomas SM, Younger KA, Child A, Wilson AG. Source: Clinical Radiology. 1996 August; 51(8): 570-4. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8761395&dopt=Abstract

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Large airway obstruction by a chronic dissecting aortic aneurysm in the Marfan syndrome. Author(s): Hargreaves MR, Gilbert TJ, Pillai R, Hart G. Source: Postgraduate Medical Journal. 1997 November; 73(865): 726-8. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9519188&dopt=Abstract

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Large sacral dural defect in Marfan syndrome. A case report. Author(s): Hum Mol Genet. 1993 Oct;2(10):1762 Source: The Journal of Bone and Joint Surgery. American Volume. 1993 July; 75(7): 106770. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8268958

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Left ventricular function in children with the Marfan syndrome. Author(s): Savolainen A, Nisula L, Keto P, Hekali P, Viitasalo M, Kaitila I, Kupari M. Source: European Heart Journal. 1994 May; 15(5): 625-30. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8056001&dopt=Abstract

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Left ventricular function in the Marfan syndrome without significant valvular regurgitation. Author(s): Chatrath R, Beauchesne LM, Connolly HM, Michels VV, Driscoll DJ. Source: The American Journal of Cardiology. 2003 April 1; 91(7): 914-6. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12667591&dopt=Abstract

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Leg-length discrepancy and scoliosis in Marfan syndrome. Author(s): Jones KB, Sponseller PD, Hobbs W, Pyeritz RE. Source: Journal of Pediatric Orthopedics. 2002 November-December; 22(6): 807-12. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12409912&dopt=Abstract

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Lens dislocation in Marfan syndrome and UV-B light exposure. Author(s): Sachdev N, Wakefield D, Coroneo MT. Source: Archives of Ophthalmology. 2003 April; 121(4): 585. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12695265&dopt=Abstract

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Lens dislocation in Marfan syndrome: potential role of matrix metalloproteinases in fibrillin degradation. Author(s): Sachdev NH, Di Girolamo N, McCluskey PJ, Jennings AV, McGuinness R, Wakefield D, Coroneo MT. Source: Archives of Ophthalmology. 2002 June; 120(6): 833-5. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12049593&dopt=Abstract

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Life expectancy in British Marfan syndrome populations. Author(s): Gray JR, Bridges AB, West RR, McLeish L, Stuart AG, Dean JC, Porteous ME, Boxer M, Davies SJ. Source: Clinical Genetics. 1998 August; 54(2): 124-8. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9761390&dopt=Abstract

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Life expectancy in the Marfan syndrome. Author(s): Silverman DI, Burton KJ, Gray J, Bosner MS, Kouchoukos NT, Roman MJ, Boxer M, Devereux RB, Tsipouras P. Source: The American Journal of Cardiology. 1995 January 15; 75(2): 157-60. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7810492&dopt=Abstract

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Linkage analysis in Marfan syndrome. Author(s): Schwartz RC, Blanton SH, Hyde CA, Sottile TR Jr, Hudgins L, Sarfarazi M, Tsipouras P. Source: Journal of Medical Genetics. 1990 February; 27(2): 86-90. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1969490&dopt=Abstract

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Linkage data for Marfan syndrome and markers on chromosomes 1 and 11. Author(s): de Groote J, Farndon PA, Kilpatrick MV, de Paepe A, Oorthuys JW, Nevin NC, Child AH, Pope FM. Source: Journal of Medical Genetics. 1990 February; 27(2): 82-5. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1969489&dopt=Abstract

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Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes. Author(s): Lee B, Godfrey M, Vitale E, Hori H, Mattei MG, Sarfarazi M, Tsipouras P, Ramirez F, Hollister DW. Source: Nature. 1991 July 25; 352(6333): 330-4. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1852206&dopt=Abstract

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Living with Marfan syndrome I. Perceptions of the condition. Author(s): Peters KF, Kong F, Horne R, Francomano CA, Biesecker BB. Source: Clinical Genetics. 2001 October; 60(4): 273-82. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11683773&dopt=Abstract

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Living with Marfan syndrome II. Medication adherence and physical activity modification. Author(s): Peters KF, Horne R, Kong F, Francomano CA, Biesecker BB. Source: Clinical Genetics. 2001 October; 60(4): 283-92. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11683774&dopt=Abstract

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Living with Marfan syndrome III. Quality of life and reproductive planning. Author(s): Peters KF, Kong F, Hanslo M, Biesecker BB. Source: Clinical Genetics. 2002 August; 62(2): 110-20. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12220448&dopt=Abstract

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Location on chromosome 15 of the gene defect causing Marfan syndrome. Author(s): Kainulainen K, Pulkkinen L, Savolainen A, Kaitila I, Peltonen L. Source: The New England Journal of Medicine. 1990 October 4; 323(14): 935-9. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=2402262&dopt=Abstract

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Long-term outcome in patients with Marfan syndrome: is aortic dissection the only cause of sudden death? Author(s): Yetman AT, Bornemeier RA, McCrindle BW. Source: Journal of the American College of Cardiology. 2003 January 15; 41(2): 329-32. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12535830&dopt=Abstract

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Long-term prognosis of surgically-treated aortic aneurysms and dissections in patients with and without Marfan syndrome. Author(s): Detter C, Mair H, Klein HG, Georgescu C, Welz A, Reichart B. Source: European Journal of Cardio-Thoracic Surgery : Official Journal of the European Association for Cardio-Thoracic Surgery. 1998 April; 13(4): 416-23. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9641341&dopt=Abstract

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L-thyroxine therapy for congenital hypothyroidism and Marfan syndrome. Author(s): Khanna R, Dixit S. Source: Indian J Pediatr. 1992 May-June; 59(3): 383-4. No Abstract Available. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1398877&dopt=Abstract

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Lumbar spine in Marfan syndrome. Author(s): Tallroth K, Malmivaara A, Laitinen ML, Savolainen A, Harilainen A. Source: Skeletal Radiology. 1995 July; 24(5): 337-40. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7570153&dopt=Abstract

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Magnetic resonance imaging evaluation of aortic elastic properties as early expression of Marfan syndrome. Author(s): Fattori R, Bacchi Reggiani L, Pepe G, Napoli G, Bna C, Celletti F, Lovato L, Gavelli G. Source: Journal of Cardiovascular Magnetic Resonance : Official Journal of the Society for Cardiovascular Magnetic Resonance. 2000; 2(4): 251-6. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11545123&dopt=Abstract

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Management of Marfan syndrome. Author(s): Dean JC. Source: Heart (British Cardiac Society). 2002 July; 88(1): 97-103. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12067963&dopt=Abstract

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Marfan syndrome and fibrillin disorders. Author(s): Le Parc JM, Molcard S, Tubach F, Boileau C, Jondeau G, Muti C, Chevallier B, Pisella PJ. Source: Joint, Bone, Spine : Revue Du Rhumatisme. 2000; 67(5): 401-7. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11143906&dopt=Abstract

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Marfan syndrome and sudden death. Author(s): Cheng TO. Source: Md Med J. 1999 March-April; 48(2): 53. No Abstract Available. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10333671&dopt=Abstract

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Marfan syndrome associated with moyamoya phenomenon and aortic dissection. Author(s): Terada T, Yokote H, Tsuura M, Nakai K, Ohshima A, Itakura T. Source: Acta Neurochirurgica. 1999; 141(6): 663-5. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10929734&dopt=Abstract

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Marfan syndrome caused by a mutation in FBN1 that gives rise to cryptic splicing and a 33 nucleotide insertion in the coding sequence. Author(s): Hutchinson S, Wordsworth BP, Handford PA. Source: Human Genetics. 2001 October; 109(4): 416-20. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11702223&dopt=Abstract

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Marfan syndrome in the third Millennium. Author(s): Collod-Beroud G, Boileau C. Source: European Journal of Human Genetics : Ejhg. 2002 November; 10(11): 673-81. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12404097&dopt=Abstract

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Marfan syndrome, lens subluxation, and open-angle glaucoma. Author(s): Krupin T. Source: Journal of Glaucoma. 1999 December; 8(6): 396-9. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10604300&dopt=Abstract

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Marfan syndrome: a review. Author(s): Holcomb SS. Source: Dimensions of Critical Care Nursing : Dccn. 2000 July-August; 19(4): 22-3. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11998154&dopt=Abstract

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Marfan syndrome: orthopedic and genetic review. Author(s): Giampietro PF, Raggio C, Davis JG. Source: Current Opinion in Pediatrics. 2002 February; 14(1): 35-41. Review. Erratum In: Curr Opin Pediatr 2002 April; 14(2): 286. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11880731&dopt=Abstract

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Marfan syndrome: screening for sudden death in athletes. Author(s): Glorioso J Jr, Reeves M. Source: Curr Sports Med Rep. 2002 April; 1(2): 67-74. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12831714&dopt=Abstract

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Maze procedure in the Marfan syndrome. Author(s): Nakajima H, Bando K, Kitamura S, Kobayashi J, Niwaya K, Tagusari O. Source: The Journal of Thoracic and Cardiovascular Surgery. 2003 June; 125(6): 1539-40. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12830081&dopt=Abstract

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Mechanisms of aortic valve incompetence: finite-element modeling of Marfan syndrome. Author(s): Grande-Allen KJ, Cochran RP, Reinhall PG, Kunzelman KS. Source: The Journal of Thoracic and Cardiovascular Surgery. 2001 November; 122(5): 946-54. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11689800&dopt=Abstract

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Microcornea and subluxated lenses due to a splicing error in the fibrillin-1 gene in a patient with Marfan syndrome. Author(s): Vital MC, Mintz-Hittner HA, Milewicz DM. Source: Archives of Ophthalmology. 2003 April; 121(4): 579-81. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12695261&dopt=Abstract

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Missense mutations of the fibrillin-1 gene in two Chinese patients with severe Marfan syndrome. Author(s): Lo IF, Wong RM, Lam FW, Tong TM, Lam ST. Source: Chinese Medical Journal. 2001 May; 114(5): 473-6. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11780406&dopt=Abstract

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Mitral valve replacement and subsequent composite graft replacement of the aortic root for infantile Marfan syndrome. Author(s): Kamikubo Y, Murashita T, Yasuda K, Matano J, Sakai K. Source: Jpn J Thorac Cardiovasc Surg. 2000 June; 48(6): 366-9. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10935327&dopt=Abstract

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Molecular effects of calcium binding mutations in Marfan syndrome depend on domain context. Author(s): McGettrick AJ, Knott V, Willis A, Handford PA. Source: Human Molecular Genetics. 2000 August 12; 9(13): 1987-94. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10942427&dopt=Abstract

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Multi-vessel dissections in Marfan syndrome demonstrated by multislice computed tomography. Author(s): Funabashi N, Ito K, Komuro I. Source: Heart (British Cardiac Society). 2003 October; 89(10): 1146. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12975401&dopt=Abstract

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Mutation screening of the fibrillin-1 (FBN1) gene in 76 unrelated patients with Marfan syndrome or Marfanoid features leads to the identification of 11 novel and three previously reported mutations. Author(s): Rommel K, Karck M, Haverich A, Schmidtke J, Arslan-Kirchner M. Source: Human Mutation. 2002 November; 20(5): 406-7. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12402346&dopt=Abstract

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Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathies. Author(s): Robinson PN, Booms P, Katzke S, Ladewig M, Neumann L, Palz M, Pregla R, Tiecke F, Rosenberg T. Source: Human Mutation. 2002 September; 20(3): 153-61. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12203987&dopt=Abstract

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Natural history of cardiovascular manifestations in Marfan syndrome. Author(s): van Karnebeek CD, Naeff MS, Mulder BJ, Hennekam RC, Offringa M. Source: Archives of Disease in Childhood. 2001 February; 84(2): 129-37. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11159287&dopt=Abstract

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Near-total aortic replacement for acute type A dissection in a patient with Marfan syndrome. Author(s): Yamashita C, Okada M, Ataka K, Nishio W, Yamashita T, Ozaki M, Nakagiri K, Wakiyama H, Inoue K. Source: The European Journal of Surgery = Acta Chirurgica. 1998 January; 164(1): 69-73. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9537712&dopt=Abstract

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Neonatal Marfan syndrome with congenital arachnodactyly, flexion contractures, and severe cardiac valve insufficiency. Author(s): Buntinx IM, Willems PJ, Spitaels SE, Van Reempst PJ, De Paepe AM, Dumon JE. Source: Journal of Medical Genetics. 1991 April; 28(4): 267-73. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1856834&dopt=Abstract

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Neonatal Marfan syndrome: a case report. Author(s): Ng DK, Chau KW, Black C, Thomas TM, Mak KL, Boxer M. Source: Journal of Paediatrics and Child Health. 1999 June; 35(3): 321-3. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10404462&dopt=Abstract

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Neuropsychological aspects of Marfan syndrome. Author(s): Lannoo E, De Paepe A, Leroy B, Thiery E. Source: Clinical Genetics. 1996 February; 49(2): 65-9. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8740914&dopt=Abstract

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Neurovascular complications of marfan syndrome: a retrospective, hospital-based study. Author(s): Wityk RJ, Zanferrari C, Oppenheimer S. Source: Stroke; a Journal of Cerebral Circulation. 2002 March; 33(3): 680-4. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11872887&dopt=Abstract

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Novel approach to the molecular diagnosis of Marfan syndrome: application to sporadic cases and in prenatal diagnosis. Author(s): Toudjarska I, Kilpatrick MW, Lembessis P, Carra S, Harton GL, Sisson ME, Black SH, Stern HJ, Gelman-Kohan Z, Shohat M, Tsipouras P. Source: American Journal of Medical Genetics. 2001 April 1; 99(4): 294-302. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11251996&dopt=Abstract

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Novel exon skipping mutation in the fibrillin-1 gene: two 'hot spots' for the neonatal Marfan syndrome. Author(s): Booms P, Cisler J, Mathews KR, Godfrey M, Tiecke F, Kaufmann UC, Vetter U, Hagemeier C, Robinson PN. Source: Clinical Genetics. 1999 February; 55(2): 110-7. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10189088&dopt=Abstract

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Observations on the fine structure of the fibroblast from a case of Ehlers-Danlos syndrome with the Marfan syndrome. Author(s): Scarpelli DG, Goodman RM. Source: The Journal of Investigative Dermatology. 1968 March; 50(3): 214-9. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=5644894&dopt=Abstract

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Obstetrical complications in a patient with the Marfan syndrome. Author(s): Lind J, Hoynck van Papendrecht HP. Source: European Journal of Obstetrics, Gynecology, and Reproductive Biology. 1984 October; 18(3): 161-8. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=6500157&dopt=Abstract

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Obstructive sleep hypopnea syndrome in a patient with Marfan syndrome treated with oxygen therapy. Author(s): Verbraecken JA, Willemen M, De Cock W, Coen E, Van de Heyning P, De Backer W. Source: Respiration; International Review of Thoracic Diseases. 1995; 62(6): 355-8. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8552869&dopt=Abstract

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Ocular manifestations in the Marfan syndrome and homocystinuria. Author(s): Cross HE, Jensen AD. Source: American Journal of Ophthalmology. 1973 March; 75(3): 405-20. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=4633235&dopt=Abstract

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Ocular manifestations of congenital Marfan syndrome with contractures (CMC syndrome). Author(s): Meire FM, Delleman WJ, Bleeker-Wagemakers EM. Source: Ophthalmic Paediatr Genet. 1991 March; 12(1): 1-9. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1881650&dopt=Abstract

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Ocular manifestations of the Marfan syndrome. Author(s): Allen RA, Straatsma BR, Apt L, Hall MO. Source: Trans Am Acad Ophthalmol Otolaryngol. 1967 January-February; 71(1): 18-38. No Abstract Available. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=4963574&dopt=Abstract

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Operative management of Marfan syndrome: The Johns Hopkins experience. Author(s): Baumgartner WA, Cameron DE, Redmond JM, Greene PS, Gott VL. Source: The Annals of Thoracic Surgery. 1999 June; 67(6): 1859-60; Discussion 1868-70. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10391326&dopt=Abstract

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Oral manifestations of patients with Marfan syndrome: a case-control study. Author(s): De Coster PJ, Martens LC, De Paepe A. Source: Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics. 2002 May; 93(5): 564-72. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12075206&dopt=Abstract

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Osseous anatomy of the lumbosacral spine in Marfan syndrome. Author(s): Sponseller PD, Ahn NU, Ahn UM, Nallamshetty L, Rose PS, Kuszyk BS, Fishman EK. Source: Spine. 2000 November 1; 25(21): 2797-802. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11064525&dopt=Abstract

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Osteoporosis and the Marfan syndrome. Author(s): Gray JR, Bridges AB, Mole PA, Pringle T, Boxer M, Paterson CR. Source: Postgraduate Medical Journal. 1993 May; 69(811): 373-5. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8346132&dopt=Abstract

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Outcome of pectus excavatum in patients with Marfan syndrome and in the general population. Author(s): Arn PH, Scherer LR, Haller JA Jr, Pyeritz RE. Source: The Journal of Pediatrics. 1989 December; 115(6): 954-8. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=2585234&dopt=Abstract

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Pathology teach and tell: neonatal Marfan syndrome. Author(s): Chang RK, Lin HJ, Fishbein MC. Source: Pediatric Pathology & Molecular Medicine. 2001 May-June; 20(3): 235-9. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11486354&dopt=Abstract

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Peripheral resistance vessel dysfunction in Marfan syndrome. Author(s): Nakamura M, Itoh S, Makita S, Ohira A, Arakawa N, Hiramori K. Source: American Heart Journal. 2000 April; 139(4): 661-6. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10740149&dopt=Abstract

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Phenotypic alteration of vascular smooth muscle cells precedes elastolysis in a mouse model of Marfan syndrome. Author(s): Bunton TE, Biery NJ, Myers L, Gayraud B, Ramirez F, Dietz HC. Source: Circulation Research. 2001 January 19; 88(1): 37-43. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11139471&dopt=Abstract

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Phenotypic features and impact of beta blocker or calcium antagonist therapy on aortic lumen size in the Marfan syndrome. Author(s): Rossi-Foulkes R, Roman MJ, Rosen SE, Kramer-Fox R, Ehlers KH, O'Loughlin JE, Davis JG, Devereux RB. Source: The American Journal of Cardiology. 1999 May 1; 83(9): 1364-8. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10235096&dopt=Abstract

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Plain radiography of the lumbosacral spine in Marfan syndrome. Author(s): Nallamshetty L, Ahn NU, Ahn UM, Buchowski JM, An HS, Rose PS, Garrett ES, Erkula G, Kebaish KM, Sponseller PD. Source: The Spine Journal : Official Journal of the North American Spine Society. 2002 September-October; 2(5): 327-33. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=14589463&dopt=Abstract

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Pneumothorax and bilateral honeycombed lung in Marfan syndrome. Report of a case and review of the pulmonary abnormalities in this disorder. Author(s): Lipton RA, Greenwald RA, Seriff NS. Source: Am Rev Respir Dis. 1971 December; 104(6): 924-8. No Abstract Available. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=5125593&dopt=Abstract

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Point of view: Marfan syndrome: be aware of life-threatening complications. Author(s): Abuelo DN. Source: Medicine and Health, Rhode Island. 2002 February; 85(2): 70. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11881173&dopt=Abstract

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Popliteal pterygium associated with neonatal Marfan syndrome: case report. Author(s): Derbent M, Gurakan B, Saygil A, Baltaci V, Balci S. Source: Clinical Dysmorphology. 2001 July; 10(3): 209-13. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11446416&dopt=Abstract

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Preimplantation genetic diagnosis in Marfan syndrome. Author(s): Kilpatrick MW, Harton GL, Phylactou LA, Levinson G, Fugger EF, Schulman JD, Black SH, Tsipouras P. Source: Fetal Diagnosis and Therapy. 1996 November-December; 11(6): 402-6. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9115627&dopt=Abstract

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Preimplantation genetic diagnosis of Marfan syndrome with the use of fluorescent polymerase chain reaction and the Automated Laser Fluorescence DNA Sequencer. Author(s): Sermon K, Lissens W, Messiaen L, Bonduelle M, Vandervorst M, Van Steirteghem A, Liebaers I. Source: Fertility and Sterility. 1999 January; 71(1): 163-6. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9935136&dopt=Abstract

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Preimplantation genetic testing for Marfan syndrome. Author(s): Harton GL, Tsipouras P, Sisson ME, Starr KM, Mahoney BS, Fugger EF, Schulman JD, Kilpatrick MW, Levinson G, Black SH. Source: Molecular Human Reproduction. 1996 September; 2(9): 713-5. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9239687&dopt=Abstract

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Prenatal and presymptomatic diagnosis of Marfan syndrome using fluorescence PCR and an automated sequencer. Author(s): Wang M, Godfrey M. Source: Methods in Molecular Biology (Clifton, N.J.). 1998; 92: 49-54. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9664502&dopt=Abstract

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Prenatal and presymptomatic diagnosis of the Marfan syndrome using fluorescence PCR and an automated sequencer. Author(s): Wang M, Mata J, Price CE, Iversen PL, Godfrey M. Source: Prenatal Diagnosis. 1995 June; 15(6): 499-507. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7659684&dopt=Abstract

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Prenatal diagnosis of Marfan syndrome: identification of a fibrillin-1 mutation in chorionic villus sample. Author(s): Rantamaki T, Raghunath M, Karttunen L, Lonnqvist L, Child A, Peltonen L. Source: Prenatal Diagnosis. 1995 December; 15(12): 1176-81. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8750301&dopt=Abstract

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Presenting signs and clinical diagnosis in individuals referred to rule out Marfan syndrome. Author(s): Hamod A, Moodie D, Clark B, Traboulsi EI. Source: Ophthalmic Genetics. 2003 March; 24(1): 35-9. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12660864&dopt=Abstract

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Protrusio acetabuli and bilateral basicervical femoral neck fractures in a patient with Marfan syndrome. Author(s): Kharrazi FD, Rodgers WB, Coran DL, Kasser JR, Hall JE. Source: Am J Orthop. 1997 October; 26(10): 689-91. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9349891&dopt=Abstract

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Protrusio acetabuli: its occurrence in the completely expressed Marfan syndrome and its musculoskeletal component and a procedure to arrest the course of protrusion in the growing pelvis. Author(s): Steel HH. Source: Journal of Pediatric Orthopedics. 1996 November-December; 16(6): 704-18. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8906639&dopt=Abstract

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Psychosocial adaptation in adolescents and young adults with Marfan syndrome: an exploratory study. Author(s): Van Tongerloo A, De Paepe A. Source: Journal of Medical Genetics. 1998 May; 35(5): 405-9. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9610804&dopt=Abstract

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Pulmonary artery root dilatation in Marfan syndrome: quantitative assessment of an unknown criterion. Author(s): Nollen GJ, van Schijndel KE, Timmermans J, Groenink M, Barentsz JO, van der Wall EE, Stoker J, Mulder BJ. Source: Heart (British Cardiac Society). 2002 May; 87(5): 470-1. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11997425&dopt=Abstract

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Pulmonary function in the Marfan syndrome. Author(s): Streeten EA, Murphy EA, Pyeritz RE. Source: Chest. 1987 March; 91(3): 408-12. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=3816319&dopt=Abstract

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Quantitation of fibrillin immunofluorescence in fibroblast cultures in the Marfan syndrome. Author(s): Schaefer GB, Godfrey M. Source: Clinical Genetics. 1995 March; 47(3): 144-9. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7634537&dopt=Abstract

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Quantitative assessment of dural ectasia as a marker for Marfan syndrome. Author(s): Oosterhof T, Groenink M, Hulsmans FJ, Mulder BJ, van der Wall EE, Smit R, Hennekam RC. Source: Radiology. 2001 August; 220(2): 514-8. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11477262&dopt=Abstract

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Quantitative differences in biosynthesis and extracellular deposition of fibrillin in cultured fibroblasts distinguish five groups of Marfan syndrome patients and suggest distinct pathogenetic mechanisms. Author(s): Aoyama T, Francke U, Dietz HC, Furthmayr H. Source: The Journal of Clinical Investigation. 1994 July; 94(1): 130-7. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8040255&dopt=Abstract

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Recurrence of Marfan syndrome as a result of parental germ-line mosaicism for an FBN1 mutation. Author(s): Rantamaki T, Kaitila I, Syvanen AC, Lukka M, Peltonen L. Source: American Journal of Human Genetics. 1999 April; 64(4): 993-1001. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10090884&dopt=Abstract

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Recurrent mis-splicing of fibrillin exon 32 in two patients with neonatal Marfan syndrome. Author(s): Wang M, Price C, Han J, Cisler J, Imaizumi K, Van Thienen MN, DePaepe A, Godfrey M. Source: Human Molecular Genetics. 1995 April; 4(4): 607-13. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7633409&dopt=Abstract

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Relation between age, arterial distensibility, and aortic dilatation in the Marfan syndrome. Author(s): Jeremy RW, Huang H, Hwa J, McCarron H, Hughes CF, Richards JG. Source: The American Journal of Cardiology. 1994 August 15; 74(4): 369-73. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8059700&dopt=Abstract

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Renal arteriovenous fistula: unique finding in the Marfan syndrome. Author(s): Steiner RM, Wexler L. Source: The Journal of Urology. 1971 November; 106(5): 631-4. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=5115713&dopt=Abstract

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Renal disease in Marfan syndrome. Author(s): Sbar GD, Venkataseshan VS, Huang Z, Marquet E, Brunswick JW, Churg J. Source: American Journal of Nephrology. 1996; 16(4): 320-6. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8739286&dopt=Abstract

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Renovascular hypertension in Marfan syndrome. Author(s): Baum MA, Harris HW Jr, Burrows PE, Schofield DE, Somers MJ. Source: Pediatric Nephrology (Berlin, Germany). 1997 August; 11(4): 499-501. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9260256&dopt=Abstract

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Repair of a ruptured sinus of Valsalva aneurysm. Associated with annuloaortic ectasia and coarctation of the aorta in a patient with Marfan syndrome. Author(s): Tesler UF, Fiorilli R, Lisanti P. Source: Texas Heart Institute Journal / from the Texas Heart Institute of St. Luke's Episcopal Hospital, Texas Children's Hospital. 1997; 24(2): 134-8. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9205991&dopt=Abstract

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Replacement of the aortic root in patients with Marfan syndrome. Author(s): Moodie DS. Source: Clinical Pediatrics. 2000 November; 39(11): 683. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11110372&dopt=Abstract

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Replacement of the descending thoracic aorta for massive aneurysm in neonatal Marfan syndrome. Author(s): Luciani GB, Faggian G, Mazzucco A. Source: Journal of Cardiac Surgery. 1994 March; 9(2): 109-14. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8012096&dopt=Abstract

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Replacement of the mitral valve, aortic valve, and ascending aorta with coronary transplantation in a child with the Marfan syndrome. Author(s): Caves PK, Paneth M. Source: Thorax. 1972 January; 27(1): 58-65. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=4259613&dopt=Abstract

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Report of a Japanese girl with Marfan syndrome associated with insulin-dependent diabetes mellitus. Author(s): Yamamoto T, Inoue F, Matsumura A, Kinugasa A, Sawada T, Hayashi S, Hamaoka K. Source: Acta Paediatr Jpn. 1992 October; 34(5): 551-3. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1442030&dopt=Abstract

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Results of brace treatment of scoliosis in Marfan syndrome. Author(s): Sponseller PD, Bhimani M, Solacoff D, Dormans JP. Source: Spine. 2000 September 15; 25(18): 2350-4. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10984787&dopt=Abstract

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Results of cardiovascular surgery in the Marfan syndrome. A retrospective study of 49 patients. Author(s): Savolainen A, Savolainen H, Savunen T, Kupari M, Kaitila I, Inberg M, Mattila S. Source: Scand J Thorac Cardiovasc Surg. 1995; 29(1): 11-5. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7644903&dopt=Abstract

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Results of retinal detachment surgery in Marfan syndrome in asians. Author(s): Lee SY, Ang CL. Source: Retina (Philadelphia, Pa.). 2003 February; 23(1): 24-9. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12652227&dopt=Abstract

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Results of surgery for aortic root aneurysm in patients with Marfan syndrome. Author(s): de Oliveira NC, David TE, Ivanov J, Armstrong S, Eriksson MJ, Rakowski H, Webb G. Source: The Journal of Thoracic and Cardiovascular Surgery. 2003 April; 125(4): 789-96. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12698141&dopt=Abstract

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Results of surgery for aortic root aneurysm in patients with the Marfan syndrome. Author(s): Tambeur L, David TE, Unger M, Armstrong S, Ivanov J, Webb G. Source: European Journal of Cardio-Thoracic Surgery : Official Journal of the European Association for Cardio-Thoracic Surgery. 2000 April; 17(4): 415-9. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10773564&dopt=Abstract

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Retinal detachment in Marfan syndrome. Author(s): Loewenstein A, Barequet IS, De Juan E Jr, Maumenee IH. Source: Retina (Philadelphia, Pa.). 2000; 20(4): 358-63. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10950412&dopt=Abstract

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Retinal detachment in Marfan syndrome: clinical characteristics and surgical outcome. Author(s): Sharma T, Gopal L, Shanmugam MP, Bhende PS, Agrawal R, Shetty NS, Gopalakrishna M, Rao MK, Balusamy S. Source: Retina (Philadelphia, Pa.). 2002 August; 22(4): 423-8. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12172108&dopt=Abstract

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Revised diagnostic criteria for the Marfan syndrome. Author(s): De Paepe A, Devereux RB, Dietz HC, Hennekam RC, Pyeritz RE. Source: American Journal of Medical Genetics. 1996 April 24; 62(4): 417-26. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8723076&dopt=Abstract

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Role of DNA testing for diagnosis, management, and genetic screening in long QT syndrome, hypertrophic cardiomyopathy, and Marfan syndrome. Author(s): Vincent GM. Source: Heart (British Cardiac Society). 2001 July; 86(1): 12-4. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11410552&dopt=Abstract

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Second international symposium on the Marfan syndrome, November 7-9, 1992, San Francisco, CA. Author(s): Byers PH. Source: Human Mutation. 1993; 2(2): 80-1. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8100467&dopt=Abstract

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Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions. Author(s): Korkko J, Kaitila I, Lonnqvist L, Peltonen L, Ala-Kokko L. Source: Journal of Medical Genetics. 2002 January; 39(1): 34-41. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11826022&dopt=Abstract

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Simultaneous Bentall's procedure and sternal turnover in a patient with Marfan syndrome. Author(s): Chien HF, Chu SH. Source: The Journal of Cardiovascular Surgery. 1995 December; 36(6): 559-62. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8632025&dopt=Abstract

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Six novel mutations of the fibrillin-1 gene in Korean patients with Marfan syndrome. Author(s): Oh MR, Kim JS, Beck NS, Yoo HW, Lee HJ, Kohsaka T, Jin DK. Source: Pediatrics International : Official Journal of the Japan Pediatric Society. 2000 October; 42(5): 488-91. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11059536&dopt=Abstract

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Solution structure of a pair of calcium-binding epidermal growth factor-like domains: implications for the Marfan syndrome and other genetic disorders. Author(s): Downing AK, Knott V, Werner JM, Cardy CM, Campbell ID, Handford PA. Source: Cell. 1996 May 17; 85(4): 597-605. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8653794&dopt=Abstract

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Sounding the alarm. If undetected, Marfan syndrome can be a silent killer. Author(s): Bayles J. Source: J Ark Med Soc. 2002 October; 99(4): 106-11. No Abstract Available. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12362652&dopt=Abstract

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Spine deformity correction in Marfan syndrome. Author(s): Jones KB, Erkula G, Sponseller PD, Dormans JP. Source: Spine. 2002 September 15; 27(18): 2003-12. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12634560&dopt=Abstract

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Spontaneous spinal cerebrospinal fluid leaks and minor skeletal features of Marfan syndrome: a microfibrillopathy. Author(s): Schrijver I, Schievink WI, Godfrey M, Meyer FB, Francke U. Source: Journal of Neurosurgery. 2002 March; 96(3): 483-9. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11883832&dopt=Abstract

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Stent graft placement of the thoracoabdominal aorta in a patient with Marfan syndrome. Author(s): Fleck TM, Hutschala D, Tschernich H, Rieder E, Czerny M, Wolner E, Grabenwoger M. Source: The Journal of Thoracic and Cardiovascular Surgery. 2003 June; 125(6): 1541-3. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12830082&dopt=Abstract

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Strategies for prenatal and preimplantation genetic diagnosis in Marfan syndrome (MFS). Author(s): Loeys B, Nuytinck L, Van Acker P, Walraedt S, Bonduelle M, Sermon K, Hamel B, Sanchez A, Messiaen L, De Paepe A. Source: Prenatal Diagnosis. 2002 January; 22(1): 22-8. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11810645&dopt=Abstract

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Subluxation of a lumbar vertebra in a patient with Marfan syndrome. Case report. Author(s): Doman I, Kover F, Illes T, Doczi T. Source: Journal of Neurosurgery. 2001 January; 94(1 Suppl): 154-7. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11147854&dopt=Abstract

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Successful treatment in a patient with Takayasu's arteritis and Marfan syndrome. Author(s): Kim KH, Lee C, Ahn H. Source: The Annals of Thoracic Surgery. 2002 September; 74(3): 908-10. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12238861&dopt=Abstract

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Sudden death in Marfan syndrome. Author(s): Patton DJ, Galliani CA, Johnson WH Jr, Hedlund GL. Source: Ajr. American Journal of Roentgenology. 1995 July; 165(1): 160. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7785577&dopt=Abstract

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Suprachoroidal hemorrhage during silicone oil removal in Marfan syndrome. Author(s): Aras C, Ozdamar A, Karacorlu M. Source: Ophthalmic Surgery and Lasers. 2000 July-August; 31(4): 337-9. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10928674&dopt=Abstract

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Surgical treatment for cardiovascular lesions of patients with Marfan syndrome. Author(s): Yamazaki F, Shimamoto M, Fujita S, Nakai M, Kono T, Aoyama A, Chen F, Nakata T. Source: Jpn J Thorac Cardiovasc Surg. 2002 September; 50(9): 366-70. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12382402&dopt=Abstract

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Surgical treatment of aortic root aneurysm related to Marfan syndrome in early childhood. Author(s): Dervanian P, Mace L, Folliguet TA, di Virgilio A, Grinda JM, Fuzellier JF, De Geeter B, Morville P, Neveux JY. Source: Pediatric Cardiology. 1998 July-August; 19(4): 369-73. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9636267&dopt=Abstract

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Surgical treatment of scoliosis in Marfan syndrome: guidelines for a successful outcome. Author(s): Lipton GE, Guille JT, Kumar SJ. Source: Journal of Pediatric Orthopedics. 2002 May-June; 22(3): 302-7. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11961443&dopt=Abstract

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Symptomatic enlarged cervical anterior epidural venous plexus in a patient with Marfan syndrome. Author(s): Salvolini U. Source: Ajnr. American Journal of Neuroradiology. 2003 January; 24(1): 151-2; Author Reply 152. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12533347&dopt=Abstract

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Symptomatic enlarged cervical anterior epidural venous plexus in a patient with Marfan syndrome. Author(s): Albayram S, Yilmaz MH. Source: Ajnr. American Journal of Neuroradiology. 2003 January; 24(1): 151; Author Reply 152. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12533346&dopt=Abstract

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Symptomatic enlarged cervical anterior epidural venous plexus in a patient with Marfan syndrome. Author(s): Chun JY, Dillon WP, Berger MS. Source: Ajnr. American Journal of Neuroradiology. 2002 April; 23(4): 622-4. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11950655&dopt=Abstract

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TGGE screening of the entire FBN1 coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies. Author(s): Katzke S, Booms P, Tiecke F, Palz M, Pletschacher A, Turkmen S, Neumann LM, Pregla R, Leitner C, Schramm C, Lorenz P, Hagemeier C, Fuchs J, Skovby F, Rosenberg T, Robinson PN. Source: Human Mutation. 2002 September; 20(3): 197-208. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12203992&dopt=Abstract

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The bone mineral status of patients with Marfan syndrome. Author(s): Kohlmeier L, Gasner C, Bachrach LK, Marcus R. Source: Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research. 1995 October; 10(10): 1550-5. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8686512&dopt=Abstract

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The cervical spine in Marfan syndrome. Author(s): Hobbs WR, Sponseller PD, Weiss AP, Pyeritz RE. Source: Spine. 1997 May 1; 22(9): 983-9. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9152448&dopt=Abstract

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The gene for microfibril-associated protein-1 (MFAP1) is located several megabases centromeric to FBN1 and is not mutated in Marfan syndrome. Author(s): Liu W, Faraco J, Qian C, Francke U. Source: Human Genetics. 1997 May; 99(5): 578-84. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9150721&dopt=Abstract

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The lumbar interpediculate distance is widened in adults with the Marfan syndrome: data from 32 cases. Author(s): Ahn NU, Ahn UM, Nallamshetty L, Rose PS, Buchowski JM, Garrett ES, Kebaish KM, Sponseller PD. Source: Acta Orthopaedica Scandinavica. 2001 February; 72(1): 67-71. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11327417&dopt=Abstract

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The Marfan syndrome and pregnancy: a retrospective study in a Dutch population. Author(s): Hum Mutat. 2001 Dec;18(6):546-7 Source: European Journal of Obstetrics, Gynecology, and Reproductive Biology. 2001 September; 98(1): 28-35. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11748851

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The Marfan syndrome and the cardiovascular surgeon. Author(s): Gott VL, Laschinger JC, Cameron DE, Dietz HC, Greene PS, Gillinov AM, Pyeritz RE, Alejo DE, Fleischer KJ, Anhalt GJ, Stone CD, McKusick VA. Source: European Journal of Cardio-Thoracic Surgery : Official Journal of the European Association for Cardio-Thoracic Surgery. 1996; 10(3): 149-58. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8664013&dopt=Abstract

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The Marfan syndrome in pregnancy: a case report. Author(s): Cava EF, Dreier RL. Source: American Journal of Obstetrics and Gynecology. 1971 May 15; 110(2): 250-4. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=5574627&dopt=Abstract

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The Marfan syndrome in pregnancy: a case report. Author(s): Cava EF, Dreier RL. Source: Trans Pac Coast Obstet Gynecol Soc. 1970; 38: 129-33. No Abstract Available. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=5522638&dopt=Abstract

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The Marfan syndrome revisited. Author(s): Bianchine JW. Source: The Journal of Pediatrics. 1971 October; 79(4): 717-8. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=4937563&dopt=Abstract

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The molecular genetics of Marfan syndrome and related microfibrillopathies. Author(s): Robinson PN, Godfrey M. Source: Journal of Medical Genetics. 2000 January; 37(1): 9-25. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10633129&dopt=Abstract

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The molecular pathogenesis of the Marfan syndrome. Author(s): Robinson PN, Booms P. Source: Cellular and Molecular Life Sciences : Cmls. 2001 October; 58(11): 1698-707. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11706995&dopt=Abstract

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The pathogenicity of the Pro1148Ala substitution in the FBN1 gene: causing or predisposing to Marfan syndrome and aortic aneurysm, or clinically innocent? Author(s): Schrijver I, Liu W, Francke U. Source: Human Genetics. 1997 May; 99(5): 607-11. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9150726&dopt=Abstract

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The thoracolumbar spine in Marfan syndrome. Author(s): Sponseller PD, Hobbs W, Riley LH 3rd, Pyeritz RE. Source: The Journal of Bone and Joint Surgery. American Volume. 1995 June; 77(6): 86776. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7782359&dopt=Abstract

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The wrist sign. A useful physical finding in the Marfan syndrome. Author(s): Walker BA, Murdoch JL. Source: Archives of Internal Medicine. 1970 August; 126(2): 276-7. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=5433066&dopt=Abstract

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Therapeutic management of patients with Marfan syndrome: focus on cardiovascular involvement. Author(s): Nienaber CA, Von Kodolitsch Y. Source: Cardiology in Review. 1999 November-December; 7(6): 332-41. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11208245&dopt=Abstract

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Three novel fibrillin mutations in exons 25 and 27: classic versus neonatal Marfan syndrome. Author(s): Wang M, Wang JY, Cisler J, Imaizumi K, Burton BK, Jones MC, Lamberti JJ, Godfrey M. Source: Human Mutation. 1997; 9(4): 359-62. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9101298&dopt=Abstract

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Twelve novel FBN1 mutations in Marfan syndrome and Marfan related phenotypes test the feasibility of FBN1 mutation testing in clinical practice. Author(s): Halliday DJ, Hutchinson S, Lonie L, Hurst JA, Firth H, Handford PA, Wordsworth P. Source: Journal of Medical Genetics. 2002 August; 39(8): 589-93. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12161601&dopt=Abstract

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Two mutations in Marfan syndrome resulting in truncated fibrillin polypeptides. Author(s): Kainulainen K, Sakai LY, Child A, Pope FM, Puhakka L, Ryhanen L, Palotie A, Kaitila I, Peltonen L. Source: Proceedings of the National Academy of Sciences of the United States of America. 1992 July 1; 89(13): 5917-21. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1631074&dopt=Abstract

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Unexpected tracheomalacia in Marfan syndrome during general anesthesia for correction of scoliosis. Author(s): Oh AY, Kim YH, Kim BK, Kim HS, Kim CS. Source: Anesthesia and Analgesia. 2002 August; 95(2): 331-2, Table of Contents. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12145047&dopt=Abstract

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Unilateral lens dislocation and axial elongation in Marfan syndrome. Author(s): Rasooly R, Benezra D. Source: Ophthalmic Paediatr Genet. 1988 July; 9(2): 135-6. No Abstract Available. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=3263606&dopt=Abstract

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Unilateral microfibrillar abnormalities in a case of asymmetric Marfan syndrome. Author(s): Godfrey M, Olson S, Burgio RG, Martini A, Valli M, Cetta G, Hori H, Hollister DW. Source: American Journal of Human Genetics. 1990 April; 46(4): 661-71. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=2180285&dopt=Abstract

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Unusual echocardiographic findings in the Marfan syndrome. Author(s): Schneeweiss A, Feigl A, Motro M, Blieden LC, Neufeld HN. Source: European Heart Journal. 1982 February; 3(1): 88-90. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7075615&dopt=Abstract

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Urinary excretion of mucopolysaccharides in normal individuals and in the Marfan syndrome. Author(s): Berenson GS, Dalferes ER Jr. Source: Biochimica Et Biophysica Acta. 1965 July 1; 101(2): 183-92. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=4221511&dopt=Abstract

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Valve-sparing aortic root replacement in patients with the Marfan syndrome. Author(s): Miller DC. Source: The Journal of Thoracic and Cardiovascular Surgery. 2003 April; 125(4): 773-8. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12698136&dopt=Abstract

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Variable expression of Marfan syndrome in monozygotic twins. Author(s): Ambani LM, Gelehrter TD, Sheahan DG. Source: Clinical Genetics. 1975 November; 8(5): 358-63. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1239344&dopt=Abstract

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Veno-occlusive disease in a male patient with Marfan syndrome and common acute lymphoblastic leukemia during induction therapy. Author(s): Kraemer DM, Waschke J, Kunzmann V, Wilhelm M. Source: Annals of Hematology. 2003 July; 82(7): 444-7. Epub 2003 May 22. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12761649&dopt=Abstract

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Vermiculate atrophoderma in a boy with Marfan syndrome. Author(s): Harper JI, Sidwell RU. Source: The British Journal of Dermatology. 1999 October; 141(4): 750-2. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10583133&dopt=Abstract

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When, why, and how should the native aortic valve be preserved in patients with annuloaortic ectasia or Marfan syndrome? Author(s): David TE. Source: Semin Thorac Cardiovasc Surg. 1993 January; 5(1): 93-6. No Abstract Available. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8425011&dopt=Abstract

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

Finding Nutrition Studies on Marfan Syndrome The National Institutes of Health’s Office of Dietary Supplements (ODS) offers a searchable bibliographic database called the IBIDS (International Bibliographic Information on Dietary Supplements; National Institutes of Health, Building 31, Room 1B29, 31 Center Drive, MSC 2086, Bethesda, Maryland 20892-2086, Tel: 301-435-2920, Fax: 301-480-1845, E-mail: [email protected]). The IBIDS contains over 460,000 scientific citations and summaries about dietary supplements and nutrition as well as references to published international, scientific literature on dietary supplements such as vitamins, minerals, and botanicals.7 The IBIDS includes references and citations to both human and animal research studies. As a service of the ODS, access to the IBIDS database is available free of charge at the following Web address: http://ods.od.nih.gov/databases/ibids.html. After entering the search area, you have three choices: (1) IBIDS Consumer Database, (2) Full IBIDS Database, or (3) Peer Reviewed Citations Only. Now that you have selected a database, click on the “Advanced” tab. An advanced search allows you to retrieve up to 100 fully explained references in a comprehensive format. Type “Marfan syndrome” (or synonyms) into the search box, and click “Go.” To narrow the search, you can also select the “Title” field.

7

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

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

5p;12q translocation with manifestations of cri du chat syndrome and Marfanoid arachnodactyly. Author(s): Department of Medical Genetics, West China University of Medical Sciences, Chengdu. Source: Zhang, S Z Tang, Y C Dai, F P Niebuhr, E Clin-Genet. 1990 February; 37(2): 153-7 0009-9163

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Central retinal artery occlusion in a patient with Marfan's syndrome. Author(s): Department of Ophthalmology, Princess Alexandra Eye Pavilion, Royal Infirmary, Edinburgh, UK. Source: Butt, Z Dhillon, B McLean, H Acta-Ophthalmol-(Copenh). 1992 April; 70(2): 2814 0001-639X

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Deficient expression of the gene coding for decorin in a lethal form of Marfan syndrome. Author(s): Department of Clinical Genetics, Kuopio University Central Hospital, Finland. Source: Pulkkinen, L Kainulainen, K Krusius, T Makinen, P Schollin, J Gustavsson, K H Peltonen, L J-Biol-Chem. 1990 October 15; 265(29): 17780-5 0021-9258

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Estrogen treatment of excessively tall girls with Marfan syndrome. Author(s): Department of Pediatrics, University of Bergen, Norway. Source: Knudtzon, J Aarskog, D Acta-Paediatr-Scand. 1988 July; 77(4): 537-41 0001-656X

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Iridocorneal adhesions in patients with the Marfan syndrome. Author(s): Children's Memorial Hospital, Division of Ophthalmology, Northwestern University Medical School, Chicago, Illinios 60614, USA. Source: Arnold, P J Donohoe, M J Greenwald, M J Mets, M B Ophthalmic-Genet. 1999 December; 20(4): 265-9 1381-6810

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L-thyroxine therapy for congenital hypothyroidism and Marfan syndrome. Author(s): Department of Psychiatry, Central Institute of Psychiatry, Kanke, Ranchi. Source: Khanna, R Dixit, S Indian-J-Pediatr. 1992 May-June; 59(3): 383-4 0019-5456

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Marfan syndrome, lens subluxation, and open-angle glaucoma. Author(s): Northwestern University, Chicago, IL 60611 USA. Source: Krupin, T J-Glaucoma. 1999 December; 8(6): 396-9 1057-0829

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

The following is a specific Web list relating to Marfan syndrome; please note that any particular subject below may indicate either a therapeutic use, or a contraindication (potential danger), and does not reflect an official recommendation: •

Food and Diet Bruising Source: Healthnotes, Inc.; www.healthnotes.com

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CHAPTER 3. ALTERNATIVE MEDICINE AND MARFAN SYNDROME Overview In this chapter, we will begin by introducing you to official information sources on complementary and alternative medicine (CAM) relating to Marfan 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 Marfan 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 “Marfan 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 Marfan syndrome: •

Clinical considerations in the chiropractic management of the patient with Marfan syndrome. Author(s): Murphy DR. Source: Journal of Manipulative and Physiological Therapeutics. 2002 October; 25(8): 542. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12381982&dopt=Abstract

•

Clinical considerations in the chiropractic management of the patient with Marfan syndrome. Author(s): Tuling JR, Crowther ET, McCord P. Source: Journal of Manipulative and Physiological Therapeutics. 2000 September; 23(7): 498-502. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11004655&dopt=Abstract

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•

Cortical blindness following aortic arch surgery. Author(s): Suzuki Y, Kiyosawa M, Mochizuki M, Ishii K, Senda M. Source: Japanese Journal of Ophthalmology. 2001 September-October; 45(5): 547-9. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11583682&dopt=Abstract

•

Epidemiology of the arterial stiffness. Author(s): Breithaupt-Grogler K, Belz GG. Source: Pathologie-Biologie. 1999 June; 47(6): 604-13. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10472071&dopt=Abstract

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Marfan's syndrome in pregnancy: implications for advanced practice nurses. Author(s): Felblinger DM, Akers MC. Source: Aacn Clinical Issues. 1998 November; 9(4): 563-8. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9855866&dopt=Abstract

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Medicine, Durer, and the praying hands. Author(s): Sharma P. Source: Lancet. 1997 May 17; 349(9063): 1470-1. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9164333&dopt=Abstract

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Metal ion dependency of microfibrils supports a rod-like conformation for fibrillin-1 calcium-binding epidermal growth factor-like domains. Author(s): Cardy CM, Handford PA. Source: Journal of Molecular Biology. 1998 March 13; 276(5): 855-60. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9566191&dopt=Abstract

•

Prosthetic valve endocarditis in a patient with Marfan's syndrome following acupuncture. Author(s): Nambiar P, Ratnatunga C. Source: J Heart Valve Dis. 2001 September; 10(5): 689-90. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11603611&dopt=Abstract

•

Results of brace treatment of scoliosis in Marfan syndrome. Author(s): Sponseller PD, Bhimani M, Solacoff D, Dormans JP. Source: Spine. 2000 September 15; 25(18): 2350-4. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10984787&dopt=Abstract

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Temporomandibular joint dysfunction and oro-facial pain. Author(s): Barr M. Source: Aust Dent J. 1979 June; 24(3): 190-1. No Abstract Available. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=291400&dopt=Abstract

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•

The role of calcium in the organization of fibrillin microfibrils. Author(s): Kielty CM, Shuttleworth CA. Source: Febs Letters. 1993 December 27; 336(2): 323-6. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8262254&dopt=Abstract

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Veno-occlusive disease in a male patient with Marfan syndrome and common acute lymphoblastic leukemia during induction therapy. Author(s): Kraemer DM, Waschke J, Kunzmann V, Wilhelm M. Source: Annals of Hematology. 2003 July; 82(7): 444-7. Epub 2003 May 22. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12761649&dopt=Abstract

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

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

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

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

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

The following is a specific Web list relating to Marfan syndrome; please note that any particular subject below may indicate either a therapeutic use, or a contraindication (potential danger), and does not reflect an official recommendation: •

General Overview Bone Loss Source: Integrative Medicine Communications; www.drkoop.com

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Capillary Fragility Source: Healthnotes, Inc.; www.healthnotes.com Osteoporosis Source: Integrative Medicine Communications; www.drkoop.com

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

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

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

The Marfan Syndrome: Physical Activity Guidelines for Physical Educators, Coaches, and Physicians by Romeo, Thomas John, EDD from New York University, 1991, 225 pages http://wwwlib.umi.com/dissertations/fullcit/9213197

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

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

Recent Trials on Marfan Syndrome The following is a list of recent trials dedicated to Marfan syndrome.8 Further information on a trial is available at the Web site indicated. •

Study of Heritable Connective Tissue Disorders Condition(s): Connective Tissue Disease; Dissecting Aneurysm; Ehlers Danlos Syndrome; Marfan Syndrome; Nail Patella Syndrome Study Status: This study is completed. Sponsor(s): National Human Genome Research Institute (NHGRI) Purpose - Excerpt: The purposes of this study are to identify the genes responsible for inherited connective tissue disorders and learn about the range of medical problems they cause. It will investigate whether specific gene changes cause specific medical problems and will establish diagnostic criteria (signs and symptoms) for the individual syndromes. Children and adults with a known or suspected inherited connective tissue disorder (Marfan, Ehlers-Danlos or Stickler syndrome, or other closely related disorders) and their family members may be eligible for this study. Patients enrolled in the study will have a medical history, physical examination and blood tests, as well as other procedures that may include: - Echocardiogram (ultrasound of the heart) - X-rays and other imaging studies, such as magnetic resonance imaging (MRI) or computerized tomography (CT) scans - Lung function studies - Urine tests - Skin biopsy (removal of a small piece of tissue, under local anesthetic, for microscopic examination) - Examination by various specialists (e.g., in ophthalmology, gastroenterology, rehabilitation medicine) as needed - Questionnaires regarding chronic pain and fatigue, quality of life, and the impact of the connective tissue disorder on the patient and family. (Patients who wish to enroll but cannot travel to NIH may have a more limited participation, including review

8

These are listed at www.ClinicalTrials.gov.

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of medical records, telephone interview regarding personal and family history, and collection of a specimen (blood, skin biopsy, or other) for genetic testing. Patients will be notified of genetic testing results that show a change responsible for their connective tissue disorder. If they wish, the information will also be sent to their local health care provider, along with recommendations for additional tests or treatment options. No treatment is offered as part of this study. Participating family members who do not themselves have a connective tissue disorder will provide a small blood sample for gene testing and be interviewed by telephone about their personal and family health history. Those whose blood test results show a gene change associated with a connective tissue disorder will be invited to NIH for a discussion of the findings or referred to a genetic center in their area. Study Type: Observational Contact(s): see Web site below Web Site: http://clinicaltrials.gov/ct/show/NCT00001641

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Marfan Syndrome. 5th ed Source: Port Washington, NY: National Marfan Foundation. 1999. 44 p. Contact: Available from National Marfan Foundation. 382 Main Street, Port Washington, NY 11050. (800) 862-7326 or (516) 883-8712. Fax (516) 883-8040. E-mail: [email protected]. Website: www.marfan.org. PRICE: $5.00 plus shipping and handling. ISBN: 0918335108. Summary: Marfan syndrome is a medical condition that is classified as a heritable disorder of connective tissue. Connective tissue is the glue and scaffolding of the body, and is also important in development before birth, growth after birth, cushioning of joints, and enabling passage of light through the eye. All organs contain connective tissues and the manifestations of the Marfan syndrome appear in many parts of the body. This booklet is intended for anyone interested in learning more about the Marfan

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syndrome. The format was selected by people affected by this condition to reflect their major questions and concerns. Topics include the physical signs and potential symptoms of Marfan syndrome, the role of heredity and family history, the cause of Marfan syndrome, diagnosis, psychological and social aspects, treatment options for the skeletal system, eyes, heart and aorta, managing other systems that may be involved, comprehensive care for Marfan syndrome, insurance issues, research on the Marfan syndrome, and the National Marfan Foundation. The booklet concludes with a brief bibliography. 14 figures. 9 references. •

Marfan Syndrome. 4th ed Source: Port Washington, NY: National Marfan Foundation. 1994. 48 p. Contact: Available from National Marfan Foundation. 382 Main Street, Port Washington, NY 11050. (800) 8-MARFAN or (516) 883-8712. Fax (516) 883-8040. Web Site: www.marfan.org. PRICE: $4.00 plus shipping and handling. ISBN 0918335094. Summary: This booklet for people with the Marfan syndrome provides an overview of this heritable disorder of connective tissue. It begins by defining the Marfan syndrome and then proceeds to describe its physical signs and potential symptoms in the skeleton, the eye, the heart and blood vessels, the skin, the lungs, the nervous system, and other body systems. The booklet explains the role of heredity and family history and discusses the cause of the disorder in terms of connective tissue, microfibrils, and the fibrillen gene. It notes the examinations, tests, and procedures used to diagnose the Marfan syndrome and examines its psychological and social aspects. The booklet presents approaches to treatment in terms of managing the skeletal system, the eye, the heart and aorta, and other systems. Other topics include comprehensive care, prognosis, lifestyle and attitude, pregnancy, health and life insurance, and clinical and basic research. In addition, the booklet provides information on the National Marfan Foundation. 13 figures and 7 references.

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

An Overview of the Marfan Syndrome by Elizabeth L. Fox; ISBN: 0944419135; http://www.amazon.com/exec/obidos/ASIN/0944419135/icongroupinterna

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Cardiovascular Aspects of Marfan Syndrome by R. Hetzer, et al (1996); ISBN: 379850959X; http://www.amazon.com/exec/obidos/ASIN/379850959X/icongroupinterna

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Marfan Syndrome; ISBN: 9994769391; http://www.amazon.com/exec/obidos/ASIN/9994769391/icongroupinterna

Books

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Mitral Valve Prolapse and the Marfan Syndrome by Richard B. Devereux; ISBN: 0781701996; http://www.amazon.com/exec/obidos/ASIN/0781701996/icongroupinterna

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The Marfan Syndrome by Reed E. Pyeritz, Cheryll Gasner (1994); ISBN: 0918335094; http://www.amazon.com/exec/obidos/ASIN/0918335094/icongroupinterna

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The Marfan Syndrome: Physical Activity Guidelines for Physical Educators, Coaches & Physicians by Thomas J. Romeo (1992); ISBN: 0918335086; http://www.amazon.com/exec/obidos/ASIN/0918335086/icongroupinterna

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The Official Patient's Sourcebook on Marfan Syndrome by Icon Health Publications, et al; ISBN: 059783170X; http://www.amazon.com/exec/obidos/ASIN/059783170X/icongroupinterna

The National Library of Medicine Book Index The National Library of Medicine at the National Institutes of Health has a massive database of books published on healthcare and biomedicine. Go to the following Internet site, http://locatorplus.gov/, and then select “Search LOCATORplus.” Once you are in the search area, simply type “Marfan syndrome” (or synonyms) into the search box, and select “books only.” From there, results can be sorted by publication date, author, or relevance. The following was recently catalogued by the National Library of Medicine:9 •

Elastin and collagen of human ascending aorta: a biochemical study of changes associated with aging, the Marfan syndrome and annulo-aortic ectasia Author: Halme, Tapio.; Year: 1968; Turku: Turun Yliopisto, 1987; ISBN: 9518800057

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Marfan syndrome: a categorized bibliography Author: Fox, Elizabeth Lieber.; Year: 1991; Shreveport, LA (1501 Kings Hwy., Shreveport 71130): Dept. of Orthopaedic Surgery, Louisiana State University School of Medicine, c1991

Chapters on Marfan Syndrome In order to find chapters that specifically relate to Marfan syndrome, an excellent source of abstracts is the Combined Health Information Database. You will need to limit your search to book chapters and Marfan 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 “Marfan syndrome” (or synonyms) into the “For these words:” box. The following is a typical result when searching for book chapters on Marfan syndrome:

9

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

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•

Marfan Syndrome, The Source: in Coggins, C.H.; Hancock, E.W.; Levitt, L.J., eds. Annual Review of Medicine, Volume 51, 2000. Palo Alto, CA: Annual Reviews, Inc. 2000. p. 481-510. Contact: Available from Annual Reviews. 4139 El Camino Way, P.O. Box 10139, Palo Alto, CA 94303-0139. (650) 493-4400. E-mail: [email protected]. Website: www.AnnualReviews.org. Summary: This chapter provides health professionals with information on the historical evolution, classification, clinical features, diagnosis, and pathogenesis of Marfan syndrome (MFS). This heritable disorder of connective tissue was initially described just over 100 years ago and was among the first conditions classified as a heritable disorder of connective tissue. MFS lies at one end of a phenotypic continuum, with people in the general population who have one or another of the features of MFS at the other end, and those with a variety of other conditions in between. Diagnosis of MFS and these other conditions is based on clinical features. Mutations in FBN1, the gene that encodes fibrillin-1, are responsible for MFS and, in a few patients, other disorders in the continuum. Differential diagnosis of MFS is hampered by the range of FBN1 mutations in MFS and related conditions, the considerable prevalence of many phenotypic manifestations in the general population and in other connective tissue disorders, and the existence of phenotypic continua. In addition to skeletal, ocular, and cardiovascular features, patients with MFS have involvement of the skin, integument, lungs, and muscle tissue. Related disorders include MASS phenotype, familial mitral valve prolapse, familial aortic aneurysm and dissection, familial ectopia lentis, familial tall stature, contractural arachnodactyly, and Shprintzen-Goldberg syndrome. Over the past 30 years, evolution of aggressive medical and surgical management of the cardiovascular problems, especially mitral valve prolapse, aortic dilatation, and aortic dissection, has resulted in considerable improvement in life expectancy. 5 tables and 131 references. (AA-M).

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

Video Recordings An excellent source of multimedia information on Marfan syndrome is the Combined Health Information Database. You will need to limit your search to “Videorecording” and “Marfan syndrome” using the “Detailed Search” option. Go directly to the following hyperlink: http://chid.nih.gov/detail/detail.html. To find video productions, 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 “Videorecording (videotape, videocassette, etc.).” Type “Marfan syndrome” (or synonyms) into the “For these words:” box. The following is a typical result when searching for video recordings on Marfan syndrome: •

How Do Your Genes Fit? Source: Port Washington, NY: National Marfan Foundation. 199x. (videocassette and teaching guide). Contact: Available from National Marfan Foundation. 382 Main Street, Port Washington, NY 11050. (800) 8-MARFAN or (516) 883-8712. Fax (516) 883-8040. Web Site: www.marfan.org. PRICE: $20.00 plus shipping and handling. Summary: This educational videotape and teaching guide for students, support groups, families, and teachers uses the Marfan syndrome as a case study to foster greater understanding of genetic disorders and inheritance. The video features graphics, a simple discussion of genetics, and interviews with adolescents. It was developed to teach an appreciation for human diversity; facilitate meaningful discussion in support groups that offer peer support, understanding, and coping strategies to adolescents; and help families discuss genetic disorders and other differences affecting family members

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or friends. Activities in the teaching guide are designed for students in grades five through eight, but they can be adapted to other levels. The guide begins with activities that examine human traits and the physical effects of the Marfan syndrome and progresses to activities that investigate the cellular and genetic basis of the disorder. It concludes with a list of additional activities and reading material.

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

Marfan syndrome [videorecording] Source: the University of Texas Medical School at Houston; produced by UT-TV, Houston; Year: 1992; Format: Videorecording; [Houston, Tex.: UT-TV], c1992

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Marfan syndrome [videorecording] Source: [presented by] the Texas Heart Institute; Year: 1982; Format: Videorecording; Houston, TX: The Institute, 1982

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Marfan's syndrome [videorecording] Source: [presented by] the Emory Medical Television Network, Emory University School of Medicine of the Robert W. Woodruff Health Sciences Center; Year: 1993; Format: Videorecording; Atlanta, GA: The University, c1993

•

Replacement of aneurysm of aortic root and transverse arch using modified Cabrol technique in a patient with Marfan syndrome [videorecording] Source: produced by Medical Illustration and Audiovisual Education, Baylor College of Medicine, Texas Medical Center; Year: 1988; Format: Videorecording; [Houston, Tex.]: Baylor College of Medicine, c1988

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

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

Foundation Issues Guidelines On Marfan Syndrome Source: Reuters Medical News Date: December 03, 1996

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

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Newsletter Articles Use the Combined Health Information Database, and limit your search criteria to “newsletter articles.” Again, you will need to use the “Detailed Search” option. Go directly to the following hyperlink: http://chid.nih.gov/detail/detail.html. Go to the bottom of the search page where “You may refine your search by.” Select the dates and language that you prefer. For the format option, select “Newsletter Article.” Type “Marfan syndrome” (or synonyms) into the “For these words:” box. You should check back periodically with this database as it is updated every three months. The following is a typical result when searching for newsletter articles on Marfan syndrome: •

Marfan Syndrome Time Line Source: Connective Issues. 14(4):5; Spring 1996. Contact: National Marfan Foundation, 382 Main Street, Port Washington, NY 11050. (800) 8-MARFAN. Summary: This newsletter article for Marfan syndrome patients presents a time line of developments concerning Marfan syndrome. The time line begins with the identification by Dr. Antoine Marfan in 1896 of a group of skeletal characteristics in a single patient that became known as Marfan syndrome. Other significant developments include discoveries about the genetic aspects of Marfan syndrome and the cardiovascular abnormalities associated with Marfan syndrome, the outcomes of studies on treatments for the cardiovascular manifestations of Marfan syndrome, and the revision of diagnostic criteria for Marfan syndrome.

•

Q and A MedQuest: Exercise and the Marfan Syndrome Source: Connective Issues. 18(3): 7. Spring 1999. Contact: Available from National Marfan Foundation (NMF). 382 Main Street, Port Washington, NY 11050. (800) 862-7326. Website: www.marfan.org. Summary: This newsletter article uses a question and answer format to provide people who have Marfan syndrome and their family members with information about exercise. Exercise and physical activities are important for people who have Marfan syndrome because exercise improves physical condition and has beneficial effects on blood pressure and bone density. Although people who have Marfan syndrome may be encouraged to compete in sports because they are often tall and agile, they should consult a physician knowledgeable about the disorder prior to beginning a sport or physical activity. People who have Marfan syndrome should avoid competitive and contact sports because of their underlying cardiac, ocular, and skeletal problems. Physical activities should be individualized depending on the person's underlying condition.

Academic Periodicals covering Marfan Syndrome Numerous periodicals are currently indexed within the National Library of Medicine’s PubMed database that are known to publish articles relating to Marfan syndrome. In addition to these sources, you can search for articles covering Marfan syndrome that have been published by any of the periodicals listed in previous chapters. To find the latest

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studies published, go to http://www.ncbi.nlm.nih.gov/pubmed, type the name of the periodical into the search box, and click “Go.” If you want complete details about the historical contents of a journal, you can also visit the following Web site: http://www.ncbi.nlm.nih.gov/entrez/jrbrowser.cgi. Here, type in the name of the journal or its abbreviation, and you will receive an index of published articles. At http://locatorplus.gov/, you can retrieve more indexing information on medical periodicals (e.g. the name of the publisher). Select the button “Search LOCATORplus.” Then type in the name of the journal and select the advanced search option “Journal Title Search.”

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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 Institute10: •

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

10

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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.11 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:12 •

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

•

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

•

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

•

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

•

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

•

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

•

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

11

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). 12 See http://www.nlm.nih.gov/databases/databases.html.

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•

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

•

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

The NLM Gateway13 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.14 To use the NLM Gateway, simply go to the search site at http://gateway.nlm.nih.gov/gw/Cmd. Type “Marfan 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 3346 17 246 0 0 3609

HSTAT15 HSTAT is a free, Web-based resource that provides access to full-text documents used in healthcare decision-making.16 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.17 Simply search by “Marfan syndrome” (or synonyms) at the following Web site: http://text.nlm.nih.gov.

13

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

14

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). 15 Adapted from HSTAT: http://www.nlm.nih.gov/pubs/factsheets/hstat.html. 16 17

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 Biologists18 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.19 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.20 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/.

18 Adapted 19

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. 20 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.

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APPENDIX B. PATIENT RESOURCES Overview Official agencies, as well as federally funded institutions supported by national grants, frequently publish a variety of guidelines written with the patient in mind. These are typically called “Fact Sheets” or “Guidelines.” They can take the form of a brochure, information kit, pamphlet, or flyer. Often they are only a few pages in length. Since new guidelines on Marfan 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 Marfan 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 Marfan 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 “Marfan syndrome”:

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•

Guides on Marfan syndrome Marfan Syndrome http://www.nlm.nih.gov/medlineplus/marfansyndrome.html

•

Other guides Asperger's Syndrome http://www.nlm.nih.gov/medlineplus/aspergerssyndrome.html Down Syndrome http://www.nlm.nih.gov/medlineplus/downsyndrome.html Genetic Disorders http://www.nlm.nih.gov/medlineplus/geneticdisorders.html Prader-Willi Syndrome http://www.nlm.nih.gov/medlineplus/praderwillisyndrome.html Sjogren's Syndrome http://www.nlm.nih.gov/medlineplus/sjogrenssyndrome.html Turner's Syndrome http://www.nlm.nih.gov/medlineplus/turnerssyndrome.html

Within the health topic page dedicated to Marfan syndrome, the following was listed: •

Coping Physical Education and Activity Guidelines Source: National Marfan Foundation http://www.marfan.org/pub/physed.html

•

Specific Conditions/Aspects Marfan Syndrome: An Overview of Related Disorders http://www.marfan.org/pub/related.pdf Ocular Concerns Source: National Marfan Foundation http://www.marfan.org/pub/ocular.html Orthopedic Concerns Source: National Marfan Foundation http://www.marfan.org/pub/orthopedic.htm

•

Journals/Newsletter Connective Issues Source: National Marfan Foundation http://www.marfan.org/pub/newsletter/features.html

•

Organizations National Institute of Arthritis and Musculoskeletal and Skin Diseases http://www.niams.nih.gov/

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

Marfan Syndrome: An Overview of Related Disorders Source: Port Washington, NY: National Marfan Foundation. 2000. 16 p. Contact: Available from National Marfan Foundation. 382 Main Street, Port Washington, NY 11050. (800) 862-7326 or (516) 883-8712. Fax (516) 883-8040. E-mail: [email protected]. Website: www.marfan.org. PRICE: $4.00 plus shipping and handling. Summary: Marfan syndrome is a medical condition that is classified as a heritable disorder of connective tissue. Connective tissue is the glue and scaffolding of the body, and is also important in development before birth, growth after birth, cushioning of joints, and enabling passage of light through the eye. All organs contain connective tissues and the manifestations of the Marfan syndrome appear in many parts of the body. Early diagnosis and management of the Marfan syndrome can save lives. This brochure familiarizes physicians and patients with the disorders that have been identified thus far that are related to the Marfan syndrome and that occur in families. Topics include how the Marfan syndrome is diagnosed, diagnostic criteria for the Marfan syndrome (skeletal, ocular, cardiovascular, pulmonary, skin, family or genetics), thoracic aortic aneurysms and aortic dissections, MASS (Mitral valve prolapse, Aortic root diameter at the upper limits of normal, Stretch marks, and Skeletal features) phenotype, mitral valve prolapse, the skeletal features of the Marfan syndrome, lens dislocation, and Beals syndrome (congenital contractural arachnodactyly). The brochure concludes with a description of the National Marfan Foundation, a nonprofit voluntary health organization dedicated to saving lives and improving the quality of life for people and families affected by the Marfan syndrome and related disorders.

•

Questions and Answers About Marfan Syndrome Source: Bethesda, MD: National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) Information Clearinghouse. 2001. 20 p.

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Contact: Available from National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) Information Clearinghouse. 1 AMS Circle, Bethesda, MD 20892-3675. (877) 226-4267 or (301) 495-4484. Fax (301) 718-6366. TTY (301) 565-2966. E-mail: [email protected]. Website: www.niams.nih.gov. PRICE: 1 to 25 copies free. Order Number: AR-06 QA (booklet), or AR-06L QA (large print). Summary: This booklet uses a question and answer format to provide people who have Marfan syndrome with information on the features, causes, symptoms, diagnosis, and treatment of this heritable condition that affects the connective tissue. Marfan syndrome affects many body systems, including the skeleton, eyes, heart and blood vessels, nervous system, and lungs. People who have Marfan syndrome are usually very tall, slender, and loosely jointed. More than half of all people who have Marfan syndrome experience dislocation of one or both lenses of the eye. Heart and blood vessel problems include heart valve abnormalities and aortic dilation. People who have Marfan syndrome may experience dural ectasia as they age, and many develop stretch marks on their skin as well. In addition, some people who have Marfan syndrome may have an increased risk of lung collapse. The syndrome is caused by a defect in the gene that determines the structure of fibrillin. This protein is an important part of connective tissue. There is no specific test to diagnose Marfan syndrome, so diagnosis is based on a complete medical history, a thorough physical examination, an eye examination, and heart tests. Treatment options depend on which systems have been affected. In general, regular examinations to detect any problems are important. People who have Marfan syndrome can also experience emotional and psychological effects. Although Marfan syndrome is a lifelong disorder, the prognosis has improved in recent years. Research is focusing on causes and treatment. The fact sheet includes a list of additional sources of information. •

Endocarditis Prophylaxis for People with Marfan Syndrome Who Had Cardiac Surgery Source: Port Washington, NY: National Marfan Foundation (NMF). 1991. 1 p. Contact: Available from National Marfan Foundation (NMF). 382 Main Street, Port Washington, NY 11050-3121. (800) 8-MARFAN or (516) 883-8712; Fax (516) 883-8040; Email: [email protected]. PRICE: Single copy free. Summary: This fact sheet discusses endocarditis prophylaxis for people with Marfan syndrome who have had cardiac surgery. Marfan syndrome is an inherited disorder of connective tissues. The authors note that the American Heart Association (AHA) recently revised its existing guidelines for antibiotic treatment before dental procedures and other medical situations with a risk of bacteria entering the blood stream. One aspect of this revision that is of particular interest to some people with Marfan syndrome is the recommendation that oral antibiotic therapy is sufficient for patients who have an artificial heart valve. The authors disagree with this recommendation, especially for patients with a composite aortic graft. They recommend that all people with Marfan syndrome who have artificial valves, and especially those with composite aortic grafts or other vascular grafts continue with the previous AHA recommendations, which are then printed in the fact sheet. The authors note the inconvenience associated with intravenous (IV) or intramuscular (IM) injections of antibiotics, but stress that avoiding the consequences of infection is well worth this inconvenience.

•

Marfan Syndrome Source: Atlanta, GA: Arthritis Foundation. 1997. 2 p.

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Contact: Available from Arthritis Foundation. P.O. Box 1616, Alpharetta, GA 300091616. (800) 207-8633. Fax (credit card orders only) (770) 442-9742. http://www.arthritis.org. PRICE: Single copy free from local Arthritis Foundation chapter (call 800-283-7800 for closest local chapter); bulk orders may be purchased from address above. Summary: This fact sheet for people with Marfan syndrome uses a question and answer format to provide information on this hereditary disorder of the connective tissue. It discusses the fairly recent discovery of the gene that causes the syndrome, the various symptoms, and the problems that can result. The brochure explains how a diagnosis is reached and how people with Marfan syndrome can obtain information or advice on coping with the syndrome from the National Marfan Foundation, the March of Dimes, and the Arthritis Foundation. •

Marfan Syndrome Fact Sheet Source: Port Washington, NY: National Marfan Foundation. 1995. 3 p. Contact: National Marfan Foundation, 382 Main Street, Port Washington, NY 11050. (800) 8-MARFAN. (516) 883-8712. (516) 883-8712 (fax). Summary: This fact sheet for the general public provides information on Marfan syndrome. This condition is defined, and the cardiovascular, skeletal, and ocular manifestation of the syndrome are identified. The etiology, diagnosis, and treatment of Marfan syndrome are explained. In addition, the purpose of the National Marfan Foundation is outlined, and its activities are highlighted, including producing publications, sponsoring an annual conference, testifying before Congress, and supporting research. Local chapters also promote the interests of the national organization. Healthfinder™

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

Connective Issues On-Line (Newsletter) Summary: The official newsletter of the National Marfan Foundation, this newsletter brings readers the latest news and research reports related to marfan syndrome. Source: National Marfan Foundation http://www.healthfinder.gov/scripts/recordpass.asp?RecordType=0&RecordID=2434

•

Marfan Syndrome Source: March of Dimes Birth Defects Foundation http://www.healthfinder.gov/scripts/recordpass.asp?RecordType=0&RecordID=3266

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•

Questions and Answers about Marfan Syndrome Summary: Marfan syndrome is a heritable condition that affects the connective tissue. The primary purpose of connective tissue is to hold the body together and provide a framework for growth and development. Source: National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health http://www.healthfinder.gov/scripts/recordpass.asp?RecordType=0&RecordID=6726 The NIH Search Utility

The NIH search utility allows you to search for documents on over 100 selected Web sites that comprise the NIH-WEB-SPACE. Each of these servers is “crawled” and indexed on an ongoing basis. Your search will produce a list of various documents, all of which will relate in some way to Marfan 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. 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

•

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

•

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

•

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

•

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

•

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

•

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

Finding Associations There are several Internet directories that provide lists of medical associations with information on or resources relating to Marfan syndrome. By consulting all of associations listed in this chapter, you will have nearly exhausted all sources for patient associations concerned with Marfan syndrome.

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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 Marfan syndrome. For more information, see the NHIC’s Web site at http://www.health.gov/NHIC/ or contact an information specialist by calling 1-800-336-4797. Directory of Health Organizations The Directory of Health Organizations, provided by the National Library of Medicine Specialized Information Services, is a comprehensive source of information on associations. The Directory of Health Organizations database can be accessed via the Internet at http://www.sis.nlm.nih.gov/Dir/DirMain.html. It is composed of two parts: DIRLINE and Health Hotlines. The DIRLINE database comprises some 10,000 records of organizations, research centers, and government institutes and associations that primarily focus on health and biomedicine. To access DIRLINE directly, go to the following Web site: http://dirline.nlm.nih.gov/. Simply type in “Marfan 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 “Marfan 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 “Marfan 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 “Marfan syndrome” (or a synonym) into the search box, and click “Submit Query.”

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

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

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

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

21

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

100 Marfan Syndrome

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

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

•

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

•

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

•

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

•

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

•

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

•

California: Gateway Health Library (Sutter Gould Medical Foundation)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

22

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

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•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

102 Marfan Syndrome

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

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•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

104 Marfan Syndrome

•

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

•

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

•

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

•

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

105

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

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

•

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

•

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

•

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

•

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

•

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

•

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

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

Basic Guidelines for Marfan Syndrome Arachnodactyly Web site: http://www.nlm.nih.gov/medlineplus/ency/article/003288.htm Marfan syndrome Web site: http://www.nlm.nih.gov/medlineplus/ency/article/000418.htm

•

Signs & Symptoms for Marfan Syndrome Hypermobile joints Web site: http://www.nlm.nih.gov/medlineplus/ency/article/003295.htm Hypotonia Web site: http://www.nlm.nih.gov/medlineplus/ency/article/003298.htm Pigeon breast Web site: http://www.nlm.nih.gov/medlineplus/ency/article/003321.htm

106 Marfan Syndrome

Stress Web site: http://www.nlm.nih.gov/medlineplus/ency/article/003211.htm •

Background Topics for Marfan Syndrome Cardiovascular Web site: http://www.nlm.nih.gov/medlineplus/ency/article/002310.htm Dislocation Web site: http://www.nlm.nih.gov/medlineplus/ency/article/000014.htm Exercise Web site: http://www.nlm.nih.gov/medlineplus/ency/article/001941.htm Incidence Web site: http://www.nlm.nih.gov/medlineplus/ency/article/002387.htm Inspection Web site: http://www.nlm.nih.gov/medlineplus/ency/article/002388.htm Iris Web site: http://www.nlm.nih.gov/medlineplus/ency/article/002386.htm Physical examination Web site: http://www.nlm.nih.gov/medlineplus/ency/article/002274.htm Sclera Web site: http://www.nlm.nih.gov/medlineplus/ency/article/002295.htm

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

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

•

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

•

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

•

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

107

MARFAN 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] Acoustic: Having to do with sound or hearing. [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] Adaptation: 1. The adjustment of an organism to its environment, or the process by which it enhances such fitness. 2. The normal ability of the eye to adjust itself to variations in the intensity of light; the adjustment to such variations. 3. The decline in the frequency of firing of a neuron, particularly of a receptor, under conditions of constant stimulation. 4. In dentistry, (a) the proper fitting of a denture, (b) the degree of proximity and interlocking of restorative material to a tooth preparation, (c) the exact adjustment of bands to teeth. 5. In microbiology, the adjustment of bacterial physiology to a new environment. [EU] Adhesions: Pathological processes consisting of the union of the opposing surfaces of a wound. [NIH] Adjustment: The dynamic process wherein the thoughts, feelings, behavior, and biophysiological mechanisms of the individual continually change to adjust to the environment. [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] Adverse Effect: An unwanted side effect of treatment. [NIH] Airway: A device for securing unobstructed passage of air into and out of the lungs during general anesthesia. [NIH] Airway Obstruction: Any hindrance to the passage of air into and out of the lungs. [NIH] Algorithms: A procedure consisting of a sequence of algebraic formulas and/or logical steps to calculate or determine a given task. [NIH] Alkaline: Having the reactions of an alkali. [EU] 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] 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]

108 Marfan Syndrome

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] Aminopropionitrile: 3-Aminopropanenitrile. Reagent used as an intermediate in the manufacture of beta-alanine and pantothenic acid. [NIH] Anaesthesia: Loss of feeling or sensation. Although the term is used for loss of tactile 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] Analogous: Resembling or similar in some respects, as in function or appearance, but not in origin or development;. [EU] Anatomical: Pertaining to anatomy, or to the structure of the organism. [EU] 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] Aneurysm: A sac formed by the dilatation of the wall of an artery, a vein, or the heart. [NIH] Angiogenesis: Blood vessel formation. Tumor angiogenesis is the growth of blood vessels from surrounding tissue to a solid tumor. This is caused by the release of chemicals by the tumor. [NIH] Angioid Streaks: Small breaks in the elastin-filled tissue of the retina. [NIH] Annealing: The spontaneous alignment of two single DNA strands to form a double helix. [NIH]

Anomalies: Birth defects; abnormalities. [NIH] Anterior chamber: The space in front of the iris and behind the cornea. [NIH] Antibiotic: A drug used to treat infections caused by bacteria and other microorganisms. [NIH]

Antibodies: Immunoglobulin molecules having a specific amino acid sequence by virtue of which they interact only with the antigen that induced their synthesis in cells of the lymphoid series (especially plasma cells), or with an antigen closely related to it. [NIH] Antibody: A type of protein made by certain white blood cells in response to a foreign substance (antigen). Each antibody can bind to only a specific antigen. The purpose of this binding is to help destroy the antigen. Antibodies can work in several ways, depending on the nature of the antigen. Some antibodies destroy antigens directly. Others make it easier for white blood cells to destroy the antigen. [NIH] Anticoagulant: A drug that helps prevent blood clots from forming. Also called a blood thinner. [NIH] Antigen: Any substance which is capable, under appropriate conditions, of inducing a specific immune response and of reacting with the products of that response, that is, with specific antibody or specifically sensitized T-lymphocytes, or both. Antigens may be soluble substances, such as toxins and foreign proteins, or particulate, such as bacteria and tissue cells; however, only the portion of the protein or polysaccharide molecule known as the antigenic determinant (q.v.) combines with antibody or a specific receptor on a lymphocyte. Abbreviated Ag. [EU] Aorta: The main trunk of the systemic arteries. [NIH]

Dictionary 109

Aortic Aneurysm: Aneurysm of the aorta. [NIH] Aortic Rupture: Tearing of aortic tissue. It may be rupture of an aneurysm or it may be due to trauma. [NIH] Aortic Valve: The valve between the left ventricle and the ascending aorta which prevents backflow into the left ventricle. [NIH] Aphakia: Absence of crystalline lens totally or partially from field of vision, from any cause except after cataract extraction. Aphakia is mainly congenital or as result of lens dislocation and subluxation. [NIH] Apnea: A transient absence of spontaneous respiration. [NIH] Apoptosis: One of the two mechanisms by which cell death occurs (the other being the pathological process of necrosis). Apoptosis is the mechanism responsible for the physiological deletion of cells and appears to be intrinsically programmed. It is characterized by distinctive morphologic changes in the nucleus and cytoplasm, chromatin cleavage at regularly spaced sites, and the endonucleolytic cleavage of genomic DNA (DNA fragmentation) at internucleosomal sites. This mode of cell death serves as a balance to mitosis in regulating the size of animal tissues and in mediating pathologic processes associated with tumor growth. [NIH] Aqueous: Having to do with water. [NIH] Arrhythmia: Any variation from the normal rhythm or rate of the heart beat. [NIH] Arterial: Pertaining to an artery or to the arteries. [EU] Arteries: The vessels carrying blood away from the heart. [NIH] Arterioles: The smallest divisions of the arteries located between the muscular arteries and the capillaries. [NIH] Arteriovenous: Both arterial and venous; pertaining to or affecting an artery and a vein. [EU] Arteriovenous Fistula: An abnormal communication between an artery and a vein. [NIH] Arteritis: Inflammation of an artery. [NIH] Aseptic: Free from infection or septic material; sterile. [EU] Assay: Determination of the amount of a particular constituent of a mixture, or of the biological or pharmacological potency of a drug. [EU] Asymptomatic: Having no signs or symptoms of disease. [NIH] 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] Atypical: Irregular; not conformable to the type; in microbiology, applied specifically to strains of unusual type. [EU] Autoantibodies: Antibodies that react with self-antigens (autoantigens) of the organism that produced them. [NIH] Autoantigens: Endogenous tissue constituents that have the ability to interact with autoantibodies and cause an immune response. [NIH] Avian: A plasmodial infection in birds. [NIH] Azoospermia: Absence of spermatozoa in the semen, or failure of formation of spermatozoa. [EU]

Back Pain: Acute or chronic pain located in the posterior regions of the trunk, including the thoracic, lumbar, sacral, or adjacent regions. [NIH]

110 Marfan Syndrome

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] Bacterial Physiology: Physiological processes and activities of bacteria. [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] Base Pair Mismatch: The presence of an uncomplementary base in double-stranded DNA caused by spontaneous deamination of cytosine or adenine, mismatching during homologous recombination, or errors in DNA replication. Multiple, sequential base pair mismatches lead to formation of heteroduplex DNA (nucleic acid heteroduplexes). [NIH] 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] Basilar Artery: The artery formed by the union of the right and left vertebral arteries; it runs from the lower to the upper border of the pons, where it bifurcates into the two posterior cerebral arteries. [NIH] Benign: Not cancerous; does not invade nearby tissue or spread to other parts of the body. [NIH]

Beta blocker: A drug used to slow the heart rate and reduce pressure inside blood vessels. It also can regulate heart rhythm. [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] Biopsy: Removal and pathologic examination of specimens in the form of small pieces of tissue from the living body. [NIH] Biosynthesis: The building up of a chemical compound in the physiologic processes of a living organism. [EU] Biotechnology: Body of knowledge related to the use of organisms, cells or cell-derived constituents for the purpose of developing products which are technically, scientifically and clinically useful. Alteration of biologic function at the molecular level (i.e., genetic engineering) is a central focus; laboratory methods used include transfection and cloning technologies, sequence and structure analysis algorithms, computer databases, and gene and protein structure function analysis and prediction. [NIH] Blood Coagulation: The process of the interaction of blood coagulation factors that results in an insoluble fibrin clot. [NIH] Blood Glucose: Glucose in blood. [NIH] Blood pressure: The pressure of blood against the walls of a blood vessel or heart chamber. Unless there is reference to another location, such as the pulmonary artery or one of the heart chambers, it refers to the pressure in the systemic arteries, as measured, for example, in the forearm. [NIH]

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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 Density: The amount of mineral per square centimeter of bone. This is the definition used in clinical practice. Actual bone density would be expressed in grams per milliliter. It is most frequently measured by photon absorptiometry or x-ray computed tomography. [NIH] Bone Development: Gross development of bones from fetus to adult. It includes osteogenesis, which is restricted to formation and development of bone from the undifferentiated cells of the germ layers of the embryo. It does not include osseointegration. [NIH]

Bone Marrow: The soft tissue filling the cavities of bones. Bone marrow exists in two types, yellow and red. Yellow marrow is found in the large cavities of large bones and consists mostly of fat cells and a few primitive blood cells. Red marrow is a hematopoietic tissue and is the site of production of erythrocytes and granular leukocytes. Bone marrow is made up of a framework of connective tissue containing branching fibers with the frame being filled with marrow cells. [NIH] Bone scan: A technique to create images of bones on a computer screen or on film. A small amount of radioactive material is injected into a blood vessel and travels through the bloodstream; it collects in the bones and is detected by a scanner. [NIH] Bowel: The long tube-shaped organ in the abdomen that completes the process of digestion. There is both a small and a large bowel. Also called the intestine. [NIH] Bowel Movement: Body wastes passed through the rectum and anus. [NIH] Branch: Most commonly used for branches of nerves, but applied also to other structures. [NIH]

Calcification: Deposits of calcium in the tissues of the breast. Calcification in the breast can be seen on a mammogram, but cannot be detected by touch. There are two types of breast calcification, macrocalcification and microcalcification. Macrocalcifications are large deposits and are usually not related to cancer. Microcalcifications are specks of calcium that may be found in an area of rapidly dividing cells. Many microcalcifications clustered together may be a sign of cancer. [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] Calcium channel blocker: A drug used to relax the blood vessel and heart muscle, causing pressure inside blood vessels to drop. It also can regulate heart rhythm. [NIH] Calcium Channel Blockers: A class of drugs that act by selective inhibition of calcium influx through cell membranes or on the release and binding of calcium in intracellular pools. Since they are inducers of vascular and other smooth muscle relaxation, they are used in the drug therapy of hypertension and cerebrovascular spasms, as myocardial protective agents, and in the relaxation of uterine spasms. [NIH] Cardiac: Having to do with the heart. [NIH] Cardiology: The study of the heart, its physiology, and its functions. [NIH] Cardiomyopathy: A general diagnostic term designating primary myocardial disease, often of obscure or unknown etiology. [EU] Cardiovascular: Having to do with the heart and blood vessels. [NIH]

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Cardiovascular Abnormalities: Congenital structural abnormalities of the cardiovascular system. [NIH] Cardiovascular disease: Any abnormal condition characterized by dysfunction of the heart and blood vessels. CVD includes atherosclerosis (especially coronary heart disease, which can lead to heart attacks), cerebrovascular disease (e.g., stroke), and hypertension (high blood pressure). [NIH] Cardiovascular System: The heart and the blood vessels by which blood is pumped and circulated through the body. [NIH] Carotene: The general name for a group of pigments found in green, yellow, and leafy vegetables, and yellow fruits. The pigments are fat-soluble, unsaturated aliphatic hydrocarbons functioning as provitamins and are converted to vitamin A through enzymatic processes in the intestinal wall. [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] Cataract: An opacity, partial or complete, of one or both eyes, on or in the lens or capsule, especially an opacity impairing vision or causing blindness. The many kinds of cataract are classified by their morphology (size, shape, location) or etiology (cause and time of occurrence). [EU] Cause of Death: Factors which produce cessation of all vital bodily functions. They can be analyzed from an epidemiologic viewpoint. [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 Death: The termination of the cell's ability to carry out vital functions such as metabolism, growth, reproduction, responsiveness, and adaptability. [NIH] Cell Division: The fission of a cell. [NIH] Cell membrane: Cell membrane = plasma membrane. The structure enveloping a cell, enclosing the cytoplasm, and forming a selective permeability barrier; it consists of lipids, proteins, and some carbohydrates, the lipids thought to form a bilayer in which integral proteins are embedded to varying degrees. [EU] Cell Survival: The span of viability of a cell characterized by the capacity to perform certain functions such as metabolism, growth, reproduction, some form of responsiveness, and adaptability. [NIH] 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] Central retinal artery: The blood vessel that carries blood into eye; supplies nutrition to the retina. [NIH] Cerebral: Of or pertaining of the cerebrum or the brain. [EU] Cerebral Arteries: The arteries supplying the cerebral cortex. [NIH] Cerebrospinal: Pertaining to the brain and spinal cord. [EU] Cerebrospinal fluid: CSF. The fluid flowing around the brain and spinal cord.

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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] Cervical: Relating to the neck, or to the neck of any organ or structure. Cervical lymph nodes are located in the neck; cervical cancer refers to cancer of the uterine cervix, which is the lower, narrow end (the "neck") of the uterus. [NIH] Cervix: The lower, narrow end of the uterus that forms a canal between the uterus and vagina. [NIH] Chest wall: The ribs and muscles, bones, and joints that make up the area of the body between the neck and the abdomen. [NIH] Chiropractic: A system of treating bodily disorders by manipulation of the spine and other parts, based on the belief that the cause is the abnormal functioning of a nerve. [NIH] Chromatin: The material of chromosomes. It is a complex of DNA, histones, and nonhistone proteins (chromosomal proteins, non-histone) found within the nucleus of a cell. [NIH] Chromosomal: Pertaining to chromosomes. [EU] Chromosome: Part of a cell that contains genetic information. Except for sperm and eggs, all human cells contain 46 chromosomes. [NIH] Chronic: A disease or condition that persists or progresses over a long period of time. [NIH] CIS: Cancer Information Service. The CIS is the National Cancer Institute's link to the public, interpreting and explaining research findings in a clear and understandable manner, and providing personalized responses to specific questions about cancer. Access the CIS by calling 1-800-4-CANCER, or by using the Web site at http://cis.nci.nih.gov. [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] Coculture: The culturing of normal cells or tissues with infected or latently infected cells or tissues of the same kind (From Dorland, 28th ed, entry for cocultivation). It also includes culturing of normal cells or tissues with other normal cells or tissues. [NIH] 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] Collapse: 1. A state of extreme prostration and depression, with failure of circulation. 2. Abnormal falling in of the walls of any part of organ. [EU] Colloidal: Of the nature of a colloid. [EU] Complement: A term originally used to refer to the heat-labile factor in serum that causes

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immune cytolysis, the lysis of antibody-coated cells, and now referring to the entire functionally related system comprising at least 20 distinct serum proteins that is the effector not only of immune cytolysis but also of other biologic functions. Complement activation occurs by two different sequences, the classic and alternative pathways. The proteins of the classic pathway are termed 'components of complement' and are designated by the symbols C1 through C9. C1 is a calcium-dependent complex of three distinct proteins C1q, C1r and C1s. The proteins of the alternative pathway (collectively referred to as the properdin system) and complement regulatory proteins are known by semisystematic or trivial names. Fragments resulting from proteolytic cleavage of complement proteins are designated with lower-case letter suffixes, e.g., C3a. Inactivated fragments may be designated with the suffix 'i', e.g. C3bi. Activated components or complexes with biological activity are designated by a bar over the symbol e.g. C1 or C4b,2a. The classic pathway is activated by the binding of C1 to classic pathway activators, primarily antigen-antibody complexes containing IgM, IgG1, IgG3; C1q binds to a single IgM molecule or two adjacent IgG molecules. The alternative pathway can be activated by IgA immune complexes and also by nonimmunologic materials including bacterial endotoxins, microbial polysaccharides, and cell walls. Activation of the classic pathway triggers an enzymatic cascade involving C1, C4, C2 and C3; activation of the alternative pathway triggers a cascade involving C3 and factors B, D and P. Both result in the cleavage of C5 and the formation of the membrane attack complex. Complement activation also results in the formation of many biologically active complement fragments that act as anaphylatoxins, opsonins, or chemotactic factors. [EU] Complementary and alternative medicine: CAM. Forms of treatment that are used in addition to (complementary) or instead of (alternative) standard treatments. These practices are not considered standard medical approaches. CAM includes dietary supplements, megadose vitamins, herbal preparations, special teas, massage therapy, magnet therapy, spiritual healing, and meditation. [NIH] Complementary medicine: Practices not generally recognized by the medical community as standard or conventional medical approaches and used to enhance or complement the standard treatments. Complementary medicine includes the taking of dietary supplements, megadose vitamins, and herbal preparations; the drinking of special teas; and practices such as massage therapy, magnet therapy, spiritual healing, and meditation. [NIH] Computational Biology: A field of biology concerned with the development of techniques for the collection and manipulation of biological data, and the use of such data to make biological discoveries or predictions. This field encompasses all computational methods and theories applicable to molecular biology and areas of computer-based techniques for solving biological problems including manipulation of models and datasets. [NIH] Computed tomography: CT scan. A series of detailed pictures of areas inside the body, taken from different angles; the pictures are created by a computer linked to an x-ray machine. Also called computerized tomography and computerized axial tomography (CAT) scan. [NIH] Computerized axial tomography: A series of detailed pictures of areas inside the body, taken from different angles; the pictures are created by a computer linked to an x-ray machine. Also called CAT scan, computed tomography (CT scan), or computerized tomography. [NIH] Computerized tomography: A series of detailed pictures of areas inside the body, taken from different angles; the pictures are created by a computer linked to an x-ray machine. Also called computerized axial tomography (CAT) scan and computed tomography (CT scan). [NIH] Cones: One type of specialized light-sensitive cells (photoreceptors) in the retina that

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provide sharp central vision and color vision. [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] Connective Tissue Cells: A group of cells that includes fibroblasts, cartilage cells, adipocytes, smooth muscle cells, and bone cells. [NIH] Continuum: An area over which the vegetation or animal population is of constantly changing composition so that homogeneous, separate communities cannot be distinguished. [NIH]

Contraindications: Any factor or sign that it is unwise to pursue a certain kind of action or treatment, e. g. giving a general anesthetic to a person with pneumonia. [NIH] 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] Cranial: Pertaining to the cranium, or to the anterior (in animals) or superior (in humans) end of the body. [EU] 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] Criterion: A standard by which something may be judged. [EU] Crowding: Behavior with respect to an excessive number of individuals, human or animal, in relation to available space. [NIH] Curative: Tending to overcome disease and promote recovery. [EU] Cysteine: A thiol-containing non-essential amino acid that is oxidized to form cystine. [NIH] Cystine: A covalently linked dimeric nonessential amino acid formed by the oxidation of cysteine. Two molecules of cysteine are joined together by a disulfide bridge to form cystine. [NIH]

Cytokine: Small but highly potent protein that modulates the activity of many cell types, including T and B cells. [NIH] Cytoplasm: The protoplasm of a cell exclusive of that of the nucleus; it consists of a continuous aqueous solution (cytosol) and the organelles and inclusions suspended in it (phaneroplasm), and is the site of most of the chemical activities of the cell. [EU] 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]

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Decision Making: The process of making a selective intellectual judgment when presented with several complex alternatives consisting of several variables, and usually defining a course of action or an idea. [NIH] Degenerative: Undergoing degeneration : tending to degenerate; having the character of or involving degeneration; causing or tending to cause degeneration. [EU] Deletion: A genetic rearrangement through loss of segments of DNA (chromosomes), bringing sequences, which are normally separated, into close proximity. [NIH] Denaturation: Rupture of the hydrogen bonds by heating a DNA solution and then cooling it rapidly causes the two complementary strands to separate. [NIH] Density: The logarithm to the base 10 of the opacity of an exposed and processed film. [NIH] Dermal: Pertaining to or coming from the skin. [NIH] Diabetes Mellitus: A heterogeneous group of disorders that share glucose intolerance in common. [NIH] Diagnostic procedure: A method used to identify a disease. [NIH] Diastolic: Of or pertaining to the diastole. [EU] Digestive system: The organs that take in food and turn it into products that the body can use to stay healthy. Waste products the body cannot use leave the body through bowel movements. The digestive system includes the salivary glands, mouth, esophagus, stomach, liver, pancreas, gallbladder, small and large intestines, and rectum. [NIH] Dilatation: The act of dilating. [NIH] Dilatation, Pathologic: The condition of an anatomical structure's being dilated beyond normal dimensions. [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] Direct: 1. Straight; in a straight line. 2. Performed immediately and without the intervention of subsidiary means. [EU] Dislocation: The displacement of any part, more especially of a bone. Called also luxation. [EU]

Dissection: Cutting up of an organism for study. [NIH] Dorsal: 1. Pertaining to the back or to any dorsum. 2. Denoting a position more toward the back surface than some other object of reference; same as posterior in human anatomy; superior in the anatomy of quadrupeds. [EU] Dorsum: A plate of bone which forms the posterior boundary of the sella turcica. [NIH] Drug Interactions: The action of a drug that may affect the activity, metabolism, or toxicity of another drug. [NIH] Dysplasia: Cells that look abnormal under a microscope but are not cancer. [NIH] Dystrophic: Pertaining to toxic habitats low in nutrients. [NIH] Echocardiography: Ultrasonic recording of the size, motion, and composition of the heart and surrounding tissues. The standard approach is transthoracic. [NIH] Ectopia Lentis: Congenital displacement of the lens resulting from defective zonule formation. [NIH] Edema: Excessive amount of watery fluid accumulated in the intercellular spaces, most commonly present in subcutaneous tissue. [NIH] Elasticity: Resistance and recovery from distortion of shape. [NIH]

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Elastin: The protein that gives flexibility to tissues. [NIH] Electrophoresis: An electrochemical process in which macromolecules or colloidal particles with a net electric charge migrate in a solution under the influence of an electric current. [NIH]

Electrophysiological: Pertaining to electrophysiology, that is a branch of physiology that is concerned with the electric phenomena associated with living bodies and involved in their functional activity. [EU] Emboli: 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] Embolization: The blocking of an artery by a clot or foreign material. Embolization can be done as treatment to block the flow of blood to a tumor. [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] Endocarditis: Exudative and proliferative inflammatory alterations of the endocardium, characterized by the presence of vegetations on the surface of the endocardium or in the endocardium itself, and most commonly involving a heart valve, but sometimes affecting the inner lining of the cardiac chambers or the endocardium elsewhere. It may occur as a primary disorder or as a complication of or in association with another disease. [EU] Endocardium: The innermost layer of the heart, comprised of endothelial cells. [NIH] Endothelium: A layer of epithelium that lines the heart, blood vessels (endothelium, vascular), lymph vessels (endothelium, lymphatic), and the serous cavities of the body. [NIH] Endothelium, Lymphatic: Unbroken cellular lining (intima) of the lymph vessels (e.g., the high endothelial lymphatic venules). It is more permeable than vascular endothelium, lacking selective absorption and functioning mainly to remove plasma proteins that have filtered through the capillaries into the tissue spaces. [NIH] Endothelium, Vascular: Single pavement layer of cells which line the luminal surface of the entire vascular system and regulate the transport of macromolecules and blood components from interstitium to lumen; this function has been most intensively studied in the blood capillaries. [NIH] Enhancer: Transcriptional element in the virus genome. [NIH] Environmental Health: The science of controlling or modifying those conditions, influences, or forces surrounding man which relate to promoting, establishing, and maintaining health. [NIH]

Enzymatic: Phase where enzyme cuts the precursor protein. [NIH] Enzyme: A protein that speeds up chemical reactions in the body. [NIH] 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] Epidemiological: Relating to, or involving epidemiology. [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

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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 epidermidis); 3) granular layer (stratum granulosum epidermidis); 4) clear layer (stratum lucidum epidermidis); and 5) horny layer (stratum corneum epidermidis). [NIH] Epidermolysis Bullosa: Group of genetically determined disorders characterized by the blistering of skin and mucosae. There are four major forms: acquired, simple, junctional, and dystrophic. Each of the latter three has several varieties. [NIH] Epidural: The space between the wall of the spinal canal and the covering of the spinal cord. An epidural injection is given into this space. [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] Epitope: A molecule or portion of a molecule capable of binding to the combining site of an antibody. For every given antigenic determinant, the body can construct a variety of antibody-combining sites, some of which fit almost perfectly, and others which barely fit. [NIH]

Esophagus: The muscular tube through which food passes from the throat to the stomach. [NIH]

Eukaryotic Cells: Cells of the higher organisms, containing a true nucleus bounded by a nuclear membrane. [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 Matrix Proteins: Macromolecular organic compounds that contain carbon, hydrogen, oxygen, nitrogen, and usually, sulfur. These macromolecules (proteins) form an intricate meshwork in which cells are embedded to construct tissues. Variations in the relative types of macromolecules and their organization determine the type of extracellular matrix, each adapted to the functional requirements of the tissue. The two main classes of macromolecules that form the extracellular matrix are: glycosaminoglycans, usually linked to proteins (proteoglycans), and fibrous proteins (e.g., collagen, elastin, fibronectins and laminin). [NIH] Extracellular Space: Interstitial space between cells, occupied by fluid as well as amorphous and fibrous substances. [NIH] Extraction: The process or act of pulling or drawing out. [EU]

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Facial: Of or pertaining to the face. [EU] Facial Pain: Pain in the facial region including orofacial pain and craniofacial pain. Associated conditions include local inflammatory and neoplastic disorders and neuralgic syndromes involving the trigeminal, facial, and glossopharyngeal nerves. Conditions which feature recurrent or persistent facial pain as the primary manifestation of disease are referred to as facial pain syndromes. [NIH] Family Health: The health status of the family as a unit including the impact of the health of one member of the family on the family as a unit and on individual family members; also, the impact of family organization or disorganization on the health status of its members. [NIH]

Family Planning: Programs or services designed to assist the family in controlling reproduction by either improving or diminishing fertility. [NIH] Fat: Total lipids including phospholipids. [NIH] Fatigue: The state of weariness following a period of exertion, mental or physical, characterized by a decreased capacity for work and reduced efficiency to respond to stimuli. [NIH]

Femoral: Pertaining to the femur, or to the thigh. [EU] Femoral Neck Fractures: Fractures of the short, constricted portion of the thigh bone between the femur head and the trochanters. It excludes intertrochanteric fractures which are hip fractures. [NIH] Femur: The longest and largest bone of the skeleton, it is situated between the hip and the knee. [NIH] Fetus: The developing offspring from 7 to 8 weeks after conception until birth. [NIH] Fibril: Most bacterial viruses have a hollow tail with specialized fibrils at its tip. The tail fibers attach to the cell wall of the host. [NIH] Fibroblasts: Connective tissue cells which secrete an extracellular matrix rich in collagen and other macromolecules. [NIH] Fibronectins: Glycoproteins found on the surfaces of cells, particularly in fibrillar structures. The proteins are lost or reduced when these cells undergo viral or chemical transformation. They are highly susceptible to proteolysis and are substrates for activated blood coagulation factor VIII. The forms present in plasma are called cold-insoluble globulins. [NIH] Flexion: In gynaecology, a displacement of the uterus in which the organ is bent so far forward or backward that an acute angle forms between the fundus and the cervix. [EU] Fluorescence: The property of emitting radiation while being irradiated. The radiation emitted is usually of longer wavelength than that incident or absorbed, e.g., a substance can be irradiated with invisible radiation and emit visible light. X-ray fluorescence is used in diagnosis. [NIH] Forearm: The part between the elbow and the wrist. [NIH] Fundus: The larger part of a hollow organ that is farthest away from the organ's opening. The bladder, gallbladder, stomach, uterus, eye, and cavity of the middle ear all have a fundus. [NIH] Gallbladder: The pear-shaped organ that sits below the liver. Bile is concentrated and stored in the gallbladder. [NIH] Ganglia: Clusters of multipolar neurons surrounded by a capsule of loosely organized connective tissue located outside the central nervous system. [NIH] Gas: Air that comes from normal breakdown of food. The gases are passed out of the body

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through the rectum (flatus) or the mouth (burp). [NIH] Gastric: Having to do with the stomach. [NIH] Gastroenterology: A subspecialty of internal medicine concerned with the study of the physiology and diseases of the digestive system and related structures (esophagus, liver, gallbladder, and pancreas). [NIH] Gene: The functional and physical unit of heredity passed from parent to offspring. Genes are pieces of DNA, and most genes contain the information for making a specific protein. [NIH]

Gene Deletion: A genetic rearrangement through loss of segments of DNA or RNA, bringing sequences which are normally separated into close proximity. This deletion may be detected using cytogenetic techniques and can also be inferred from the phenotype, indicating a deletion at one specific locus. [NIH] Gene Expression: The phenotypic manifestation of a gene or genes by the processes of gene action. [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] Genetic Screening: Searching a population or individuals for persons possessing certain genotypes or karyotypes that: (1) are already associated with disease or predispose to disease; (2) may lead to disease in their descendants; or (3) produce other variations not known to be associated with disease. Genetic screening may be directed toward identifying phenotypic expression of genetic traits. It includes prenatal genetic screening. [NIH] Genetic testing: Analyzing DNA to look for a genetic alteration that may indicate an increased risk for developing a specific disease or disorder. [NIH] Genetics: The biological science that deals with the phenomena and mechanisms of heredity. [NIH] Genotype: The genetic constitution of the individual; the characterization of the genes. [NIH] Germ Layers: The three layers of cells comprising the early embryo. [NIH] Gestation: The period of development of the young in viviparous animals, from the time of fertilization of the ovum until birth. [EU] Glossopharyngeal Nerve: The 9th cranial nerve. The glossopharyngeal nerve is a mixed motor and sensory nerve; it conveys somatic and autonomic efferents as well as general, special, and visceral afferents. Among the connections are motor fibers to the stylopharyngeus muscle, parasympathetic fibers to the parotid glands, general and taste afferents from the posterior third of the tongue, the nasopharynx, and the palate, and afferents from baroreceptors and chemoreceptors of the carotid sinus. [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] Glycine: A non-essential amino acid. It is found primarily in gelatin and silk fibroin and used therapeutically as a nutrient. It is also a fast inhibitory neurotransmitter. [NIH] Glycosaminoglycans: Heteropolysaccharides which contain an N-acetylated hexosamine in a characteristic repeating disaccharide unit. The repeating structure of each disaccharide involves alternate 1,4- and 1,3-linkages consisting of either N-acetylglucosamine or Nacetylgalactosamine. [NIH] Governing Board: The group in which legal authority is vested for the control of health-

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related institutions and organizations. [NIH] Graft: Healthy skin, bone, or other tissue taken from one part of the body and used to replace diseased or injured tissue removed from another part of the body. [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] Headache Disorders: Common conditions characterized by persistent or recurrent headaches. Headache syndrome classification systems may be based on etiology (e.g., vascular headache, post-traumatic headaches, etc.), temporal pattern (e.g., cluster headache, paroxysmal hemicrania, etc.), and precipitating factors (e.g., cough headache). [NIH] Health Status: The level of health of the individual, group, or population as subjectively assessed by the individual or by more objective measures. [NIH] Heart attack: A seizure of weak or abnormal functioning of the heart. [NIH] Heartbeat: One complete contraction of the heart. [NIH] Hemorrhage: Bleeding or escape of blood from a vessel. [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] Heteroduplex Analysis: A method of detecting gene mutation by mixing PCR-amplified mutant and wild-type DNA followed by denaturation and reannealing. The resultant products are resolved by gel electrophoresis, with single base substitutions detectable under optimal electrophoretic conditions and gel formulations. Large base pair mismatches may also be analyzed by using electron microscopy to visualize heteroduplex regions. [NIH] 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]

Hip Fractures: Fractures of the femur head, the femur neck, the trochanters, or the inter- or subtrochanteric region. Excludes fractures of the acetabulum and fractures of the femoral shaft below the subtrochanteric region. For the fractures of the femur neck the specific term femoral neck fractures is available. [NIH] Homeostasis: The processes whereby the internal environment of an organism tends to remain balanced and stable. [NIH] Homogeneous: Consisting of or composed of similar elements or ingredients; of a uniform quality throughout. [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] Host: Any animal that receives a transplanted graft. [NIH]

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Hybrid: Cross fertilization between two varieties or, more usually, two species of vines, see also crossing. [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] Hydrogen: The first chemical element in the periodic table. It has the atomic symbol H, atomic number 1, and atomic weight 1. It exists, under normal conditions, as a colorless, odorless, tasteless, diatomic gas. Hydrogen ions are protons. Besides the common H1 isotope, hydrogen exists as the stable isotope deuterium and the unstable, radioactive isotope tritium. [NIH] Hydroxylysine: A hydroxylated derivative of the amino acid lysine that is present in certain collagens. [NIH] Hydroxyproline: A hydroxylated form of the imino acid proline. A deficiency in ascorbic acid can result in impaired hydroxyproline formation. [NIH] Hypertension: Persistently high arterial blood pressure. Currently accepted threshold levels are 140 mm Hg systolic and 90 mm Hg diastolic pressure. [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] Hypothyroidism: Deficiency of thyroid activity. In adults, it is most common in women and is characterized by decrease in basal metabolic rate, tiredness and lethargy, sensitivity to cold, and menstrual disturbances. If untreated, it progresses to full-blown myxoedema. In infants, severe hypothyroidism leads to cretinism. In juveniles, the manifestations are intermediate, with less severe mental and developmental retardation and only mild symptoms of the adult form. When due to pituitary deficiency of thyrotropin secretion it is called secondary hypothyroidism. [EU] Id: The part of the personality structure which harbors the unconscious instinctive desires and strivings of the individual. [NIH] Immune response: The activity of the immune system against foreign substances (antigens). [NIH]

Immunofluorescence: A technique for identifying molecules present on the surfaces of cells or in tissues using a highly fluorescent substance coupled to a specific antibody. [NIH] Immunoglobulin: A protein that acts as an antibody. [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 situ: In the natural or normal place; confined to the site of origin without invasion of neighbouring tissues. [EU] In Situ Hybridization: A technique that localizes specific nucleic acid sequences within intact chromosomes, eukaryotic cells, or bacterial cells through the use of specific nucleic acid-labeled probes. [NIH] In vitro: In the laboratory (outside the body). The opposite of in vivo (in the body). [NIH] In vivo: In the body. The opposite of in vitro (outside the body or in the laboratory). [NIH] Incompetence: Physical or mental inadequacy or insufficiency. [EU] Indicative: That indicates; that points out more or less exactly; that reveals fairly clearly. [EU] 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

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agents. [EU] Induction therapy: Treatment designed to be used as a first step toward shrinking the cancer and in evaluating response to drugs and other agents. Induction therapy is followed by additional therapy to eliminate whatever cancer remains. [NIH] Infancy: The period of complete dependency prior to the acquisition of competence in walking, talking, and self-feeding. [NIH] Infantile: Pertaining to an infant or to infancy. [EU] Infarction: A pathological process consisting of a sudden insufficient blood supply to an area, which results in necrosis of that area. It is usually caused by a thrombus, an embolus, or a vascular torsion. [NIH] Infection: 1. Invasion and multiplication of microorganisms in body tissues, which may be clinically unapparent or result in local cellular injury due to competitive metabolism, toxins, intracellular replication, or antigen-antibody response. The infection may remain localized, subclinical, and temporary if the body's defensive mechanisms are effective. A local infection may persist and spread by extension to become an acute, subacute, or chronic clinical infection or disease state. A local infection may also become systemic when the microorganisms gain access to the lymphatic or vascular system. 2. An infectious disease. [EU]

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] Ingestion: Taking into the body by mouth [NIH] Insulin: A protein hormone secreted by beta cells of the pancreas. Insulin plays a major role in the regulation of glucose metabolism, generally promoting the cellular utilization of glucose. It is also an important regulator of protein and lipid metabolism. Insulin is used as a drug to control insulin-dependent diabetes mellitus. [NIH] Insulin-dependent diabetes mellitus: A disease characterized by high levels of blood glucose resulting from defects in insulin secretion, insulin action, or both. Autoimmune, genetic, and environmental factors are involved in the development of type I diabetes. [NIH] Internal Medicine: A medical specialty concerned with the diagnosis and treatment of diseases of the internal organ systems of adults. [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 Aneurysm: A saclike dilatation of the walls of a blood vessel, usually an artery. [NIH]

Intramuscular: IM. Within or into muscle. [NIH] Intravenous: IV. Into a vein. [NIH] Invasive: 1. Having the quality of invasiveness. 2. Involving puncture or incision of the skin or insertion of an instrument or foreign material into the body; said of diagnostic techniques. [EU]

Joint: The point of contact between elements of an animal skeleton with the parts that surround and support it. [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] Laminin: Large, noncollagenous glycoprotein with antigenic properties. It is localized in the

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basement membrane lamina lucida and functions to bind epithelial cells to the basement membrane. Evidence suggests that the protein plays a role in tumor invasion. [NIH] Large Intestine: The part of the intestine that goes from the cecum to the rectum. The large intestine absorbs water from stool and changes it from a liquid to a solid form. The large intestine is 5 feet long and includes the appendix, cecum, colon, and rectum. Also called colon. [NIH] Latent: Phoria which occurs at one distance or another and which usually has no troublesome effect. [NIH] Lathyrism: A paralytic condition of the legs caused by ingestion of lathyrogens, especially beta-aminopropionitrile, found in the seeds of plants of the genus Lathyrus. [NIH] Lens: The transparent, double convex (outward curve on both sides) structure suspended between the aqueous and vitreous; helps to focus light on the retina. [NIH] Lens Subluxation: Incomplete rupture of the zonule with the displaced lens remaining behind the pupil. In dislocation, or complete rupture, the lens is displaced forward into the anterior chamber or backward into the vitreous body. When congenital, this condition is known as Ectopia lentis. [NIH] Lesion: An area of abnormal tissue change. [NIH] Lethal: Deadly, fatal. [EU] Lethargy: Abnormal drowsiness or stupor; a condition of indifference. [EU] Leukemia: Cancer of blood-forming tissue. [NIH] Library Services: Services offered to the library user. They include reference and circulation. [NIH]

Life Expectancy: A figure representing the number of years, based on known statistics, to which any person of a given age may reasonably expect to live. [NIH] Ligaments: Shiny, flexible bands of fibrous tissue connecting together articular extremities of bones. They are pliant, tough, and inextensile. [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] Lipid: Fat. [NIH] Liver: A large, glandular organ located in the upper abdomen. The liver cleanses the blood and aids in digestion by secreting bile. [NIH] Liver scan: An image of the liver created on a computer screen or on film. A radioactive substance is injected into a blood vessel and travels through the bloodstream. It collects in the liver, especially in abnormal areas, and can be detected by the scanner. [NIH] 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] Lumbar: Pertaining to the loins, the part of the back between the thorax and the pelvis. [EU] Lumen: The cavity or channel within a tube or tubular organ. [EU] Luxation: The displacement of the particular surface of a bone from its normal joint, without fracture. [NIH] Lymph: The almost colorless fluid that travels through the lymphatic system and carries cells that help fight infection and disease. [NIH]

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Lymph node: A rounded mass of lymphatic tissue that is surrounded by a capsule of connective tissue. Also known as a lymph gland. Lymph nodes are spread out along lymphatic vessels and contain many lymphocytes, which filter the lymphatic fluid (lymph). [NIH]

Lymphatic: The tissues and organs, including the bone marrow, spleen, thymus, and lymph nodes, that produce and store cells that fight infection and disease. [NIH] Lymphoblastic: One of the most aggressive types of non-Hodgkin lymphoma. [NIH] Lymphoblasts: Interferon produced predominantly by leucocyte cells. [NIH] Lymphoid: Referring to lymphocytes, a type of white blood cell. Also refers to tissue in which lymphocytes develop. [NIH] Magnetic Resonance Imaging: Non-invasive method of demonstrating internal anatomy based on the principle that atomic nuclei in a strong magnetic field absorb pulses of radiofrequency energy and emit them as radiowaves which can be reconstructed into computerized images. The concept includes proton spin tomographic techniques. [NIH] Malformation: A morphologic developmental process. [EU]

defect

resulting

from

an

intrinsically

abnormal

Mammary: Pertaining to the mamma, or breast. [EU] Mammogram: An x-ray of the breast. [NIH] Manifest: Being the part or aspect of a phenomenon that is directly observable : concretely expressed in behaviour. [EU] Matrix metalloproteinase: A member of a group of enzymes that can break down proteins, such as collagen, that are normally found in the spaces between cells in tissues (i.e., extracellular matrix proteins). Because these enzymes need zinc or calcium atoms to work properly, they are called metalloproteinases. Matrix metalloproteinases are involved in wound healing, angiogenesis, and tumor cell metastasis. [NIH] Medial: Lying near the midsaggital plane of the body; opposed to lateral. [NIH] Medical Records: Recording of pertinent information concerning patient's illness or illnesses. [NIH] MEDLINE: An online database of MEDLARS, the computerized bibliographic Medical Literature Analysis and Retrieval System of the National Library of Medicine. [NIH] Meninges: The three membranes that cover and protect the brain and spinal cord. [NIH] Meningocele: A congenital or acquired protrusion of the meninges, unaccompanied by neural tissue, through a bony defect in the skull or vertebral column. [NIH] Mental Disorders: Psychiatric illness or diseases manifested by breakdowns in the adaptational process expressed primarily as abnormalities of thought, feeling, and behavior producing either distress or impairment of function. [NIH] Mesenchymal: Refers to cells that develop into connective tissue, blood vessels, and lymphatic tissue. [NIH] Metastasis: The spread of cancer from one part of the body to another. Tumors formed from cells that have spread are called "secondary tumors" and contain cells that are like those in the original (primary) tumor. The plural is metastases. [NIH] MI: Myocardial infarction. Gross necrosis of the myocardium as a result of interruption of the blood supply to the area; it is almost always caused by atherosclerosis of the coronary arteries, upon which coronary thrombosis is usually superimposed. [NIH] Microbiology: The study of microorganisms such as fungi, bacteria, algae, archaea, and

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viruses. [NIH] Microcalcifications: Tiny deposits of calcium in the breast that cannot be felt but can be detected on a mammogram. A cluster of these very small specks of calcium may indicate that cancer is present. [NIH] Microfibrils: Components of the extracellular matrix consisting primarily of fibrillin. They are essential for the integrity of elastic fibers. [NIH] Microscopy: The application of microscope magnification to the study of materials that cannot be properly seen by the unaided eye. [NIH] Milliliter: A measure of volume for a liquid. A milliliter is approximately 950-times smaller than a quart and 30-times smaller than a fluid ounce. A milliliter of liquid and a cubic centimeter (cc) of liquid are the same. [NIH] Mineralization: The action of mineralizing; the state of being mineralized. [EU] Mitosis: A method of indirect cell division by means of which the two daughter nuclei normally receive identical complements of the number of chromosomes of the somatic cells of the species. [NIH] Mitral Valve: The valve between the left atrium and left ventricle of the heart. [NIH] Mitral Valve Prolapse: Abnormal protrusion of one or both of the leaflets of the mitral valve into the left atrium during systole. This may be accompanied by mitral regurgitation, systolic murmur, nonejection click, or cardiac arrhythmia. [NIH] Modeling: A treatment procedure whereby the therapist presents the target behavior which the learner is to imitate and make part of his repertoire. [NIH] Modification: A change in an organism, or in a process in an organism, that is acquired from its own activity or environment. [NIH] Molecular: Of, pertaining to, or composed of molecules : a very small mass of matter. [EU] Molecule: A chemical made up of two or more atoms. The atoms in a molecule can be the same (an oxygen molecule has two oxygen atoms) or different (a water molecule has two hydrogen atoms and one oxygen atom). Biological molecules, such as proteins and DNA, can be made up of many thousands of atoms. [NIH] Monitor: An apparatus which automatically records such physiological signs as respiration, pulse, and blood pressure in an anesthetized patient or one undergoing surgical or other procedures. [NIH] Monoclonal: An antibody produced by culturing a single type of cell. It therefore consists of a single species of immunoglobulin molecules. [NIH] Monoclonal antibodies: Laboratory-produced substances that can locate and bind to cancer cells wherever they are in the body. Many monoclonal antibodies are used in cancer detection or therapy; each one recognizes a different protein on certain cancer cells. Monoclonal antibodies can be used alone, or they can be used to deliver drugs, toxins, or radioactive material directly to a tumor. [NIH] Monogenic: A human disease caused by a mutation in a single gene. [NIH] Morphogenesis: The development of the form of an organ, part of the body, or organism. [NIH]

Morphological: Relating to the configuration or the structure of live organs. [NIH] Morphology: The science of the form and structure of organisms (plants, animals, and other forms of life). [NIH] Mosaicism: The occurrence in an individual of two or more cell populations of different

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chromosomal constitutions, derived from a single zygote, as opposed to chimerism in which the different cell populations are derived from more than one zygote. [NIH] Mydriatic: 1. Dilating the pupil. 2. Any drug that dilates the pupil. [EU] Myocardium: The muscle tissue of the heart composed of striated, involuntary muscle known as cardiac muscle. [NIH] Myopia: That error of refraction in which rays of light entering the eye parallel to the optic axis are brought to a focus in front of the retina, as a result of the eyeball being too long from front to back (axial m.) or of an increased strength in refractive power of the media of the eye (index m.). Called also nearsightedness, because the near point is less distant than it is in emmetropia with an equal amplitude of accommodation. [EU] NCI: National Cancer Institute. NCI, part of the National Institutes of Health of the United States Department of Health and Human Services, is the federal government's principal agency for cancer research. NCI conducts, coordinates, and funds cancer research, training, health information dissemination, and other programs with respect to the cause, diagnosis, prevention, and treatment of cancer. Access the NCI Web site at http://cancer.gov. [NIH] Necrosis: A pathological process caused by the progressive degradative action of enzymes that is generally associated with severe cellular trauma. It is characterized by mitochondrial swelling, nuclear flocculation, uncontrolled cell lysis, and ultimately cell death. [NIH] Need: A state of tension or dissatisfaction felt by an individual that impels him to action toward a goal he believes will satisfy the impulse. [NIH] Neonatal: Pertaining to the first four weeks after birth. [EU] Neoplastic: Pertaining to or like a neoplasm (= any new and abnormal growth); pertaining to neoplasia (= the formation of a neoplasm). [EU] Nephrosis: Descriptive histopathologic term for renal disease without an inflammatory component. [NIH] Nephrotic: Pertaining to, resembling, or caused by nephrosis. [EU] Nephrotic Syndrome: Clinical association of heavy proteinuria, hypoalbuminemia, and generalized edema. [NIH] Nerve: A cordlike structure of nervous tissue that connects parts of the nervous system with other tissues of the body and conveys nervous impulses to, or away from, these tissues. [NIH] Nervous System: The entire nerve apparatus composed of the brain, spinal cord, nerves and ganglia. [NIH] Neural: 1. Pertaining to a nerve or to the nerves. 2. Situated in the region of the spinal axis, as the neutral arch. [EU] Neutrophil: A type of white blood cell. [NIH] Nitrogen: An element with the atomic symbol N, atomic number 7, and atomic weight 14. Nitrogen exists as a diatomic gas and makes up about 78% of the earth's atmosphere by volume. It is a constituent of proteins and nucleic acids and found in all living cells. [NIH] Norepinephrine: Precursor of epinephrine that is secreted by the adrenal medulla and is a widespread central and autonomic neurotransmitter. Norepinephrine is the principal transmitter of most postganglionic sympathetic fibers and of the diffuse projection system in the brain arising from the locus ceruleus. It is also found in plants and is used pharmacologically as a sympathomimetic. [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]

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Nuclei: A body of specialized protoplasm found in nearly all cells and containing the chromosomes. [NIH] Nucleic acid: Either of two types of macromolecule (DNA or RNA) formed by polymerization of nucleotides. Nucleic acids are found in all living cells and contain the information (genetic code) for the transfer of genetic information from one generation to the next. [NIH] Nucleic Acid Hybridization: The process whereby two single-stranded polynucleotides form a double-stranded molecule, with hydrogen bonding between the complementary bases in the two strains. [NIH] Nucleus: A body of specialized protoplasm found in nearly all cells and containing the chromosomes. [NIH] Ocular: 1. Of, pertaining to, or affecting the eye. 2. Eyepiece. [EU] On-line: A sexually-reproducing population derived from a common parentage. [NIH] Opacity: Degree of density (area most dense taken for reading). [NIH] Ophthalmic: Pertaining to the eye. [EU] Ophthalmic Artery: Artery originating from the internal carotid artery and distributing to the eye, orbit and adjacent facial structures. [NIH] Ophthalmology: A surgical specialty concerned with the structure and function of the eye and the medical and surgical treatment of its defects and diseases. [NIH] Opsin: A visual pigment protein found in the retinal rods. It combines with retinaldehyde to form rhodopsin. [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] Orderly: A male hospital attendant. [NIH] Organ Culture: The growth in aseptic culture of plant organs such as roots or shoots, beginning with organ primordia or segments and maintaining the characteristics of the organ. [NIH] Orofacial: Of or relating to the mouth and face. [EU] Osseointegration: The growth action of bone tissue, as it assimilates surgically implanted devices or prostheses to be used as either replacement parts (e.g., hip) or as anchors (e.g., endosseous dental implants). [NIH] Osteogenesis: The histogenesis of bone including ossification. It occurs continuously but particularly in the embryo and child and during fracture repair. [NIH] Ovum: A female germ cell extruded from the ovary at ovulation. [NIH] Palate: The structure that forms the roof of the mouth. It consists of the anterior hard palate and the posterior soft palate. [NIH] Palliative: 1. Affording relief, but not cure. 2. An alleviating medicine. [EU] Palliative therapy: Treatment given to relieve symptoms caused by advanced cancer. Palliative therapy does not alter the course of a disease but improves the quality of life. [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

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comprised of the Islets of Langerhans, while the exocrine portion is a compound acinar gland that secretes digestive enzymes. [NIH] Pathogenesis: The cellular events and reactions that occur in the development of disease. [NIH]

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

Pelvic: Pertaining to the pelvis. [EU] Peptide: Any compound consisting of two or more amino acids, the building blocks of proteins. Peptides are combined to make proteins. [NIH] PH: The symbol relating the hydrogen ion (H+) concentration or activity of a solution to that of a given standard solution. Numerically the pH is approximately equal to the negative logarithm of H+ concentration expressed in molarity. pH 7 is neutral; above it alkalinity increases and below it acidity increases. [EU] Pharmacologic: Pertaining to pharmacology or to the properties and reactions of drugs. [EU] Phenotype: The outward appearance of the individual. It is the product of interactions between genes and between the genotype and the environment. This includes the killer phenotype, characteristic of yeasts. [NIH] 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] Physical Examination: Systematic and thorough inspection of the patient for physical signs of disease or abnormality. [NIH] Physiologic: Having to do with the functions of the body. When used in the phrase "physiologic age," it refers to an age assigned by general health, as opposed to calendar age. [NIH]

Physiology: The science that deals with the life processes and functions of organismus, their cells, tissues, and organs. [NIH] Pigment: A substance that gives color to tissue. Pigments are responsible for the color of skin, eyes, and hair. [NIH] Plants: Multicellular, eukaryotic life forms of the kingdom Plantae. They are characterized by a mainly photosynthetic mode of nutrition; essentially unlimited growth at localized regions of cell divisions (meristems); cellulose within cells providing rigidity; the absence of organs of locomotion; absense of nervous and sensory systems; and an alteration of haploid and diploid generations. [NIH] Plasma: The clear, yellowish, fluid part of the blood that carries the blood cells. The proteins that form blood clots are in plasma. [NIH] Plasma cells: A type of white blood cell that produces antibodies. [NIH] Plexus: A network or tangle; a general term for a network of lymphatic vessels, nerves, or veins. [EU] Pneumothorax: Accumulation of air or gas in the space between the lung and chest wall,

130 Marfan Syndrome

resulting in partial or complete collapse of the lung. [NIH] Polymerase: An enzyme which catalyses the synthesis of DNA using a single DNA strand as a template. The polymerase copies the template in the 5'-3'direction provided that sufficient quantities of free nucleotides, dATP and dTTP are present. [NIH] Polymerase Chain Reaction: In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). The essential steps include thermal denaturation of the double-stranded target molecules, annealing of the primers to their complementary sequences, and extension of the annealed primers by enzymatic synthesis with DNA polymerase. The reaction is efficient, specific, and extremely sensitive. Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships. [NIH] Polymorphic: Occurring in several or many forms; appearing in different forms at different stages of development. [EU] 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] Pons: The part of the central nervous system lying between the medulla oblongata and the mesencephalon, ventral to the cerebellum, and consisting of a pars dorsalis and a pars ventralis. [NIH] Posterior: Situated in back of, or in the back part of, or affecting the back or dorsal surface of the body. In lower animals, it refers to the caudal end of the body. [EU] 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] Preclinical: Before a disease becomes clinically recognizable. [EU] 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] Predisposition: A latent susceptibility to disease which may be activated under certain conditions, as by stress. [EU] 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] 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] Prolapse: The protrusion of an organ or part of an organ into a natural or artificial orifice. [NIH]

Proline: A non-essential amino acid that is synthesized from glutamic acid. It is an essential component of collagen and is important for proper functioning of joints and tendons. [NIH]

Dictionary 131

Prophylaxis: An attempt to prevent disease. [NIH] Protease: Proteinase (= any enzyme that catalyses the splitting of interior peptide bonds in a protein). [EU] Protective Agents: Synthetic or natural substances which are given to prevent a disease or disorder or are used in the process of treating a disease or injury due to a poisonous agent. [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 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] Protein Transport: The process of moving proteins from one cellular compartment (including extracellular) to another by various sorting and transport mechanisms such as gated transport, protein translocation, and vesicular transport. [NIH] Proteins: Polymers of amino acids linked by peptide bonds. The specific sequence of amino acids determines the shape and function of the protein. [NIH] Proteinuria: The presence of protein in the urine, indicating that the kidneys are not working properly. [NIH] Proteoglycans: Glycoproteins which have a very high polysaccharide content. [NIH] Protocol: The detailed plan for a clinical trial that states the trial's rationale, purpose, drug or vaccine dosages, length of study, routes of administration, who may participate, and other aspects of trial design. [NIH] Pseudoxanthoma: A rare disease of the skin characterized by the appearance of elevated yellowish papules or plaques, particularly on the neck, chest an abdomen and infrequently on the eyelids. [NIH] Pseudoxanthoma Elasticum: A rare, progressive inherited disorder resulting from extensive basophilic degeneration of elastic tissue, usually presenting after puberty and involving the skin, eye, and cardiovascular system. Characteristic manifestations are small, circumscribed yellowish patches at sites of considerable movement of the skin, angioid streaks in the retina, and a tendency towards hemorrhage and arterial insufficiency. [NIH] Puberty: The period during which the secondary sex characteristics begin to develop and the capability of sexual reproduction is attained. [EU] Public Policy: A course or method of action selected, usually by a government, from among alternatives to guide and determine present and future decisions. [NIH] Publishing: "The business or profession of the commercial production and issuance of literature" (Webster's 3d). It includes the publisher, publication processes, editing and editors. Production may be by conventional printing methods or by electronic publishing. [NIH]

Pulmonary: Relating to the lungs. [NIH] Pulmonary Artery: The short wide vessel arising from the conus arteriosus of the right ventricle and conveying unaerated blood to the lungs. [NIH] Pulse: The rhythmical expansion and contraction of an artery produced by waves of pressure caused by the ejection of blood from the left ventricle of the heart as it contracts. [NIH]

Pupil: The aperture in the iris through which light passes. [NIH]

132 Marfan Syndrome

Purines: A series of heterocyclic compounds that are variously substituted in nature and are known also as purine bases. They include adenine and guanine, constituents of nucleic acids, as well as many alkaloids such as caffeine and theophylline. Uric acid is the metabolic end product of purine metabolism. [NIH] Quality of Life: A generic concept reflecting concern with the modification and enhancement of life attributes, e.g., physical, political, moral and social environment. [NIH] Radiation: Emission or propagation of electromagnetic energy (waves/rays), or the waves/rays themselves; a stream of electromagnetic particles (electrons, neutrons, protons, alpha particles) or a mixture of these. The most common source is the sun. [NIH] Radioactive: Giving off radiation. [NIH] Radiography: Examination of any part of the body for diagnostic purposes by means of roentgen rays, recording the image on a sensitized surface (such as photographic film). [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] Refer: To send or direct for treatment, aid, information, de decision. [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] Renal vein thrombosis: Blood clots in the vessel that carries blood away from the kidney. This can occur in people with the nephrotic syndrome. [NIH] Respiration: The act of breathing with the lungs, consisting of inspiration, or the taking into the lungs of the ambient air, and of expiration, or the expelling of the modified air which contains more carbon dioxide than the air taken in (Blakiston's Gould Medical Dictionary, 4th ed.). This does not include tissue respiration (= oxygen consumption) or cell respiration (= cell respiration). [NIH] 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] Retinal: 1. Pertaining to the retina. 2. The aldehyde of retinol, derived by the oxidative enzymatic splitting of absorbed dietary carotene, and having vitamin A activity. In the retina, retinal combines with opsins to form visual pigments. One isomer, 11-cis retinal combines with opsin in the rods (scotopsin) to form rhodopsin, or visual purple. Another, all-trans retinal (trans-r.); visual yellow; xanthopsin) results from the bleaching of rhodopsin by light, in which the 11-cis form is converted to the all-trans form. Retinal also combines with opsins in the cones (photopsins) to form the three pigments responsible for colour vision. Called also retinal, and retinene1. [EU] Retinal Artery: Central retinal artery and its branches. It arises from the ophthalmic artery, pierces the optic nerve and runs through its center, enters the eye through the porus opticus and branches to supply the retina. [NIH] Retinal Artery Occlusion: Occlusion or closure of the central retinal artery causing sudden, usually nearly complete, loss of vision in one eye. Occlusion of the branch retinal artery causes sudden visual loss in only a portion of the visual field. [NIH] Retinal Detachment: Separation of the inner layers of the retina (neural retina) from the pigment epithelium. Retinal detachment occurs more commonly in men than in women, in eyes with degenerative myopia, in aging and in aphakia. It may occur after an

Dictionary 133

uncomplicated cataract extraction, but it is seen more often if vitreous humor has been lost during surgery. (Dorland, 27th ed; Newell, Ophthalmology: Principles and Concepts, 7th ed, p310-12). [NIH] Retinol: Vitamin A. It is essential for proper vision and healthy skin and mucous membranes. Retinol is being studied for cancer prevention; it belongs to the family of drugs called retinoids. [NIH] Retrospective: Looking back at events that have already taken place. [NIH] Retrospective study: A study that looks backward in time, usually using medical records and interviews with patients who already have or had a disease. [NIH] Risk factor: A habit, trait, condition, or genetic alteration that increases a person's chance of developing a disease. [NIH] Rod: A reception for vision, located in the retina. [NIH] Salivary: The duct that convey saliva to the mouth. [NIH] Salivary glands: Glands in the mouth that produce saliva. [NIH] Scans: Pictures of structures inside the body. Scans often used in diagnosing, staging, and monitoring disease include liver scans, bone scans, and computed tomography (CT) or computerized axial tomography (CAT) scans and magnetic resonance imaging (MRI) scans. In liver scanning and bone scanning, radioactive substances that are injected into the bloodstream collect in these organs. A scanner that detects the radiation is used to create pictures. In CT scanning, an x-ray machine linked to a computer is used to produce detailed pictures of organs inside the body. MRI scans use a large magnet connected to a computer to create pictures of areas inside the body. [NIH] Scleroderma: A chronic disorder marked by hardening and thickening of the skin. Scleroderma can be localized or it can affect the entire body (systemic). [NIH] Scoliosis: A lateral curvature of the spine. [NIH] Screening: Checking for disease when there are no symptoms. [NIH] Secretion: 1. The process of elaborating a specific product as a result of the activity of a gland; this activity may range from separating a specific substance of the blood to the elaboration of a new chemical substance. 2. Any substance produced by secretion. [EU] 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] Sequencer: Device that reads off the order of nucleotides in a cloned gene. [NIH] Sequencing: The determination of the order of nucleotides in a DNA or RNA chain. [NIH] Sequester: A portion of dead bone which has become detached from the healthy bone tissue, as occurs in necrosis. [NIH] Serine: A non-essential amino acid occurring in natural form as the L-isomer. It is synthesized from glycine or threonine. It is involved in the biosynthesis of purines, pyrimidines, and other amino acids. [NIH] Serous: Having to do with serum, the clear liquid part of blood. [NIH] Side effect: A consequence other than the one(s) for which an agent or measure is used, as the adverse effects produced by a drug, especially on a tissue or organ system other than the one sought to be benefited by its administration. [EU] Signs and Symptoms: Clinical manifestations that can be either objective when observed by a physician, or subjective when perceived by the patient. [NIH]

134 Marfan Syndrome

Sinus of Valsalva: The dilatation of the aortic wall behind each of the cusps of the aortic valve. [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] Sleep apnea: A serious, potentially life-threatening breathing disorder characterized by repeated cessation of breathing due to either collapse of the upper airway during sleep or absence of respiratory effort. [NIH] Small intestine: The part of the digestive tract that is located between the stomach and the large intestine. [NIH] Smooth muscle: Muscle that performs automatic tasks, such as constricting blood vessels. [NIH]

Social Environment: The aggregate of social and cultural institutions, forms, patterns, and processes that influence the life of an individual or community. [NIH] Soft tissue: Refers to muscle, fat, fibrous tissue, blood vessels, or other supporting tissue of the body. [NIH] Specialist: In medicine, one who concentrates on 1 special branch of medical science. [NIH] Species: A taxonomic category subordinate to a genus (or subgenus) and superior to a subspecies or variety, composed of individuals possessing common characters distinguishing them from other categories of individuals of the same taxonomic level. In taxonomic nomenclature, species are designated by the genus name followed by a Latin or Latinized adjective or noun. [EU] Sperm: The fecundating fluid of the male. [NIH] Spermatozoa: Mature male germ cells that develop in the seminiferous tubules of the testes. Each consists of a head, a body, and a tail that provides propulsion. The head consists mainly of chromatin. [NIH] Spinal cord: The main trunk or bundle of nerves running down the spine through holes in the spinal bone (the vertebrae) from the brain to the level of the lower back. [NIH] Sporadic: Neither endemic nor epidemic; occurring occasionally in a random or isolated manner. [EU] Stabilization: The creation of a stable state. [EU] Staging: Performing exams and tests to learn the extent of the cancer within the body, especially whether the disease has spread from the original site to other parts of the body. [NIH]

Stomach: An organ of digestion situated in the left upper quadrant of the abdomen between the termination of the esophagus and the beginning of the duodenum. [NIH] Strand: DNA normally exists in the bacterial nucleus in a helix, in which two strands are coiled together. [NIH] Stress: Forcibly exerted influence; pressure. Any condition or situation that causes strain or tension. Stress may be either physical or psychologic, or both. [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]

Dictionary 135

Subacute: Somewhat acute; between acute and chronic. [EU] Subarachnoid: Situated or occurring between the arachnoid and the pia mater. [EU] Subclinical: Without clinical manifestations; said of the early stage(s) of an infection or other disease or abnormality before symptoms and signs become apparent or detectable by clinical examination or laboratory tests, or of a very mild form of an infection or other disease or abnormality. [EU] Submaxillary: Four to six lymph glands, located between the lower jaw and the submandibular salivary gland. [NIH] Sudden death: Cardiac arrest caused by an irregular heartbeat. The term "death" is somewhat misleading, because some patients survive. [NIH] Sulfur: An element that is a member of the chalcogen family. It has an atomic symbol S, atomic number 16, and atomic weight 32.066. It is found in the amino acids cysteine and methionine. [NIH] Support group: A group of people with similar disease who meet to discuss how better to cope with their cancer and treatment. [NIH] Symptomatic: Having to do with symptoms, which are signs of a condition or disease. [NIH] Systemic: Affecting the entire body. [NIH] Systole: Period of contraction of the heart, especially of the ventricles. [NIH] Systolic: Indicating the maximum arterial pressure during contraction of the left ventricle of the heart. [EU] 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] Therapeutics: The branch of medicine which is concerned with the treatment of diseases, palliative or curative. [NIH] Thermal: Pertaining to or characterized by heat. [EU] Thigh: A leg; in anatomy, any elongated process or part of a structure more or less comparable to a leg. [NIH] Thoracic: Having to do with the chest. [NIH] Thorax: A part of the trunk between the neck and the abdomen; the chest. [NIH] Threonine: An essential amino acid occurring naturally in the L-form, which is the active form. It is found in eggs, milk, gelatin, and other proteins. [NIH] Threshold: For a specified sensory modality (e. g. light, sound, vibration), the lowest level (absolute threshold) or smallest difference (difference threshold, difference limen) or intensity of the stimulus discernible in prescribed conditions of stimulation. [NIH] Thrombin: An enzyme formed from prothrombin that converts fibrinogen to fibrin. (Dorland, 27th ed) EC 3.4.21.5. [NIH] Thrombomodulin: A cell surface glycoprotein of endothelial cells that binds thrombin and serves as a cofactor in the activation of protein C and its regulation of blood coagulation. [NIH]

Thrombosis: The formation or presence of a blood clot inside a blood vessel. [NIH] Thyroid: A gland located near the windpipe (trachea) that produces thyroid hormone, which helps regulate growth and metabolism. [NIH] Thyroid Gland: A highly vascular endocrine gland consisting of two lobes, one on either side of the trachea, joined by a narrow isthmus; it produces the thyroid hormones which are

136 Marfan Syndrome

concerned in regulating the metabolic rate of the body. [NIH] Thyrotropin: A peptide hormone secreted by the anterior pituitary. It promotes the growth of the thyroid gland and stimulates the synthesis of thyroid hormones and the release of thyroxine by the thyroid gland. [NIH] Thyroxine: An amino acid of the thyroid gland which exerts a stimulating effect on thyroid metabolism. [NIH] Tissue: A group or layer of cells that are alike in type and work together to perform a specific function. [NIH] Tissue Culture: Maintaining or growing of tissue, organ primordia, or the whole or part of an organ in vitro so as to preserve its architecture and/or function (Dorland, 28th ed). Tissue culture includes both organ culture and cell culture. [NIH] Tomography: Imaging methods that result in sharp images of objects located on a chosen plane and blurred images located above or below the plane. [NIH] Tooth Preparation: Procedures carried out with regard to the teeth or tooth structures preparatory to specified dental therapeutic and surgical measures. [NIH] Toxic: Having to do with poison or something harmful to the body. Toxic substances usually cause unwanted side effects. [NIH] Toxicity: The quality of being poisonous, especially the degree of virulence of a toxic microbe or of a poison. [EU] Toxicology: The science concerned with the detection, chemical composition, and pharmacologic action of toxic substances or poisons and the treatment and prevention of toxic manifestations. [NIH] Toxins: Specific, characterizable, poisonous chemicals, often proteins, with specific biological properties, including immunogenicity, produced by microbes, higher plants, or animals. [NIH] Transfection: The uptake of naked or purified DNA into cells, usually eukaryotic. It is analogous to bacterial transformation. [NIH] Translocation: The movement of material in solution inside the body of the plant. [NIH] 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] Trauma: Any injury, wound, or shock, must frequently physical or structural shock, producing a disturbance. [NIH] Trigeminal: Cranial nerve V. It is sensory for the eyeball, the conjunctiva, the eyebrow, the skin of face and scalp, the teeth, the mucous membranes in the mouth and nose, and is motor to the muscles of mastication. [NIH] Tropoelastin: A salt-soluble precursor of elastin. Lysyl oxidase is instrumental in converting it to elastin in connective tissue. [NIH] Tryptophan: An essential amino acid that is necessary for normal growth in infants and for nitrogen balance in adults. It is a precursor serotonin and niacin. [NIH] Unconscious: Experience which was once conscious, but was subsequently rejected, as the "personal unconscious". [NIH] Urine: Fluid containing water and waste products. Urine is made by the kidneys, stored in the bladder, and leaves the body through the urethra. [NIH] Uterus: The small, hollow, pear-shaped organ in a woman's pelvis. This is the organ in which a fetus develops. Also called the womb. [NIH]

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Vaccine: A substance or group of substances meant to cause the immune system to respond to a tumor or to microorganisms, such as bacteria or viruses. [NIH] Valves: Flap-like structures that control the direction of blood flow through the heart. [NIH] Vascular: Pertaining to blood vessels or indicative of a copious blood supply. [EU] Vasodilation: Physiological dilation of the blood vessels without anatomic change. For dilation with anatomic change, dilatation, pathologic or aneurysm (or specific aneurysm) is used. [NIH] Vein: Vessel-carrying blood from various parts of the body to the heart. [NIH] Venous: Of or pertaining to the veins. [EU] Ventricle: One of the two pumping chambers of the heart. The right ventricle receives oxygen-poor blood from the right atrium and pumps it to the lungs through the pulmonary artery. The left ventricle receives oxygen-rich blood from the left atrium and pumps it to the body through the aorta. [NIH] Ventricular: Pertaining to a ventricle. [EU] Ventricular Function: The hemodynamic and electrophysiological action of the ventricles. [NIH]

Venules: The minute vessels that collect blood from the capillary plexuses and join together to form veins. [NIH] Vertebral: Of or pertaining to a vertebra. [EU] Vesicular: 1. Composed of or relating to small, saclike bodies. 2. Pertaining to or made up of vesicles on the skin. [EU] Veterinary Medicine: The medical science concerned with the prevention, diagnosis, and treatment of diseases in animals. [NIH] Villus: Cell found in the lining of the small intestine. [NIH] Virus: Submicroscopic organism that causes infectious disease. In cancer therapy, some viruses may be made into vaccines that help the body build an immune response to, and kill, tumor cells. [NIH] Visual field: The entire area that can be seen when the eye is forward, including peripheral vision. [NIH] Vitreous Body: The transparent, semigelatinous substance that fills the cavity behind the crystalline lens of the eye and in front of the retina. It is contained in a thin hyoid membrane and forms about four fifths of the optic globe. [NIH] Vitreous Humor: The transparent, colorless mass of gel that lies behind the lens and in front of the retina and fills the center of the eyeball. [NIH] Vitro: Descriptive of an event or enzyme reaction under experimental investigation occurring outside a living organism. Parts of an organism or microorganism are used together with artificial substrates and/or conditions. [NIH] Vivo: Outside of or removed from the body of a living organism. [NIH] 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]

Wound Healing: Restoration of integrity to traumatized tissue. [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'

138 Marfan Syndrome

and bakers' yeasts are Saccharomyces cerevisiae; therapeutic dried yeast is dried yeast. [NIH] Zygote: The fertilized ovum. [NIH] Zymogen: Inactive form of an enzyme which can then be converted to the active form, usually by excision of a polypeptide, e. g. trypsinogen is the zymogen of trypsin. [NIH]

139

INDEX A Abdominal, 4, 107, 128 Acoustic, 23, 107 Acute lymphoblastic leukemia, 57, 65, 107 Acute lymphocytic leukemia, 107 Adaptation, 47, 107 Adhesions, 35, 60, 107 Adjustment, 107 Adrenergic, 17, 25, 32, 107, 118 Adverse Effect, 107, 133 Airway, 36, 107, 134 Airway Obstruction, 36, 107 Algorithms, 107, 110 Alkaline, 107, 111 Alternative medicine, 80, 107 Amino Acid Sequence, 107, 108, 118 Amino Acids, 107, 108, 129, 130, 131, 133, 135 Aminopropionitrile, 108, 124 Anaesthesia, 108, 122 Analogous, 11, 108, 136 Anatomical, 108, 109, 116, 122 Anesthesia, 32, 56, 107, 108 Aneurysm, 4, 10, 20, 21, 24, 30, 35, 48, 49, 50, 52, 69, 78, 108, 109, 137 Angiogenesis, 108, 125 Angioid Streaks, 108, 131 Annealing, 108, 130 Anomalies, 4, 108 Anterior chamber, 108, 124 Antibiotic, 94, 108 Antibodies, 7, 9, 108, 109, 126, 129 Antibody, 108, 114, 118, 122, 123, 126 Anticoagulant, 108, 131 Antigen, 108, 114, 123 Aorta, 7, 18, 19, 26, 27, 34, 48, 49, 51, 74, 75, 108, 109, 137 Aortic Aneurysm, 4, 7, 10, 11, 13, 15, 27, 36, 38, 55, 76, 93, 109 Aortic Rupture, 15, 109 Aortic Valve, 15, 40, 49, 57, 109, 134 Aphakia, 109, 132 Apnea, 109 Apoptosis, 15, 109 Aqueous, 109, 110, 115, 124 Arrhythmia, 109, 126 Arterial, 15, 48, 64, 109, 122, 131, 135 Arteries, 108, 109, 110, 111, 112, 115, 125

Arterioles, 109, 111 Arteriovenous, 48, 109 Arteriovenous Fistula, 48, 109 Arteritis, 52, 109 Aseptic, 109, 128 Assay, 11, 109 Asymptomatic, 16, 17, 23, 109 Atrium, 109, 126, 137 Atypical, 21, 109 Autoantibodies, 109 Autoantigens, 5, 109 Avian, 7, 109 Azoospermia, 21, 109 B Back Pain, 24, 109 Bacteria, 94, 108, 110, 117, 125, 137 Bacterial Physiology, 107, 110 Base, 110, 116, 121, 123, 135 Base Pair Mismatch, 110, 121 Basement Membrane, 110, 118, 124 Basilar Artery, 24, 110 Benign, 110, 121 Beta blocker, 45, 110 Bilateral, 7, 18, 28, 45, 46, 110 Biochemical, 6, 75, 110 Biological therapy, 110, 121 Biopsy, 69, 110 Biosynthesis, 47, 110, 133 Biotechnology, 13, 14, 75, 80, 87, 110 Blood Coagulation, 110, 111, 119, 135 Blood Glucose, 110, 123 Blood pressure, 81, 110, 112, 122, 126 Blood vessel, 12, 74, 94, 108, 110, 111, 112, 113, 117, 123, 124, 125, 134, 135, 137 Bone Density, 9, 81, 111 Bone Development, 6, 111 Bone Marrow, 107, 111, 125 Bone scan, 111, 133 Bowel, 111, 116 Bowel Movement, 111, 116 Branch, 103, 111, 117, 129, 132, 134, 135 C Calcification, 13, 111 Calcium, 12, 29, 30, 41, 45, 51, 64, 65, 111, 114, 125, 126 Calcium channel blocker, 12, 111 Calcium Channel Blockers, 12, 111

140 Marfan Syndrome

Cardiac, 7, 10, 12, 17, 19, 21, 23, 34, 39, 41, 42, 47, 49, 50, 81, 94, 111, 117, 118, 126, 127, 135 Cardiology, 9, 10, 14, 16, 17, 21, 25, 28, 30, 34, 35, 36, 37, 38, 45, 48, 52, 55, 111 Cardiomyopathy, 111 Cardiovascular, 5, 6, 8, 9, 10, 11, 12, 16, 19, 20, 26, 28, 34, 35, 39, 40, 41, 49, 51, 52, 54, 55, 57, 74, 76, 81, 93, 95, 106, 111, 112, 131 Cardiovascular Abnormalities, 81, 112 Cardiovascular disease, 10, 28, 35, 112 Cardiovascular System, 112, 131 Carotene, 112, 132 Case report, 12, 17, 24, 35, 36, 42, 45, 52, 54, 112 Cataract, 109, 112, 133 Cause of Death, 7, 112 Cell Death, 109, 112, 127 Cell Division, 110, 112, 121, 126, 129 Cell membrane, 111, 112 Cell Survival, 112, 121 Central Nervous System, 112, 119, 121, 128, 130 Central Nervous System Infections, 112, 121 Central retinal artery, 60, 112, 132 Cerebral, 36, 42, 110, 112, 113, 118 Cerebral Arteries, 110, 112 Cerebrospinal, 51, 112 Cerebrospinal fluid, 51, 112 Cerebrovascular, 14, 111, 112, 113 Cerebrum, 112, 113 Cervical, 53, 54, 113 Cervix, 113, 119 Chest wall, 113, 129 Chiropractic, 20, 63, 113 Chromatin, 109, 113, 134 Chromosomal, 5, 113, 127 Chromosome, 12, 13, 38, 113, 124 Chronic, 17, 28, 36, 69, 109, 113, 123, 133, 135 CIS, 113, 132 Clinical trial, 4, 69, 70, 87, 113, 131 Cloning, 4, 110, 113 Coculture, 11, 113 Cofactor, 113, 131, 135 Collagen, 26, 27, 35, 75, 110, 113, 118, 119, 125, 130 Collapse, 94, 113, 130, 134 Colloidal, 113, 117 Complement, 113, 114, 120

Complementary and alternative medicine, 63, 66, 114 Complementary medicine, 63, 114 Computational Biology, 87, 114 Computed tomography, 41, 111, 114, 133 Computerized axial tomography, 114, 133 Computerized tomography, 69, 114 Cones, 114, 132 Connective Tissue, 5, 6, 7, 9, 22, 69, 73, 74, 76, 93, 94, 95, 96, 111, 113, 115, 119, 125, 136 Connective Tissue Cells, 115 Continuum, 76, 115 Contraindications, ii, 115 Coronary, 21, 30, 49, 112, 115, 125 Coronary heart disease, 112, 115 Coronary Thrombosis, 115, 125 Cranial, 115, 120, 121, 128, 136 Craniocerebral Trauma, 115, 121 Criterion, 3, 47, 115 Crowding, 4, 115 Curative, 115, 135 Cysteine, 5, 15, 115, 135 Cystine, 115 Cytokine, 9, 115 Cytoplasm, 109, 112, 115 D Databases, Bibliographic, 87, 115 Decision Making, 11, 116 Degenerative, 116, 132 Deletion, 8, 109, 116, 120 Denaturation, 116, 121, 130 Density, 17, 18, 111, 116, 128 Dermal, 12, 116 Diabetes Mellitus, 116 Diagnostic procedure, 80, 116 Diastolic, 23, 116, 122 Digestive system, 71, 116, 120 Dilatation, 5, 7, 12, 14, 34, 47, 48, 76, 108, 116, 123, 134, 137 Dilatation, Pathologic, 116, 137 Dilation, 19, 25, 94, 116, 137 Direct, iii, 116, 132 Dislocation, 12, 36, 37, 56, 93, 94, 106, 109, 116, 124 Dissection, 10, 12, 13, 16, 17, 26, 34, 38, 39, 42, 76, 116 Dorsal, 7, 116, 130 Dorsum, 116 Drug Interactions, 116 Dysplasia, 23, 116 Dystrophic, 20, 116, 118

Index 141

E Echocardiography, 14, 23, 116 Ectopia Lentis, 7, 11, 31, 76, 116 Edema, 116, 127 Elasticity, 13, 21, 116 Elastin, 12, 26, 75, 108, 113, 117, 118, 136 Electrophoresis, 50, 117, 121 Electrophysiological, 117, 137 Emboli, 20, 117 Embolization, 20, 117 Embryo, 7, 111, 117, 120, 122, 128, 130 Endemic, 117, 134 Endocarditis, 17, 64, 94, 117 Endocardium, 117 Endothelium, 21, 117 Endothelium, Lymphatic, 117 Endothelium, Vascular, 117 Enhancer, 15, 117 Environmental Health, 86, 88, 117 Enzymatic, 26, 111, 112, 114, 117, 130, 132 Enzyme, 117, 130, 131, 135, 137, 138 Epidemic, 117, 134 Epidemiological, 5, 117 Epidermal, 51, 64, 117 Epidermal Growth Factor, 51, 64, 117 Epidermis, 117, 118 Epidermolysis Bullosa, 20, 118 Epidural, 53, 118 Epinephrine, 107, 118, 127 Epithelial, 5, 118, 124 Epithelial Cells, 118, 124 Epithelium, 110, 117, 118, 132 Epitope, 11, 118 Esophagus, 116, 118, 120, 134 Eukaryotic Cells, 118, 122 Exon, 13, 15, 28, 42, 48, 118 Extracellular, 6, 8, 9, 12, 15, 22, 47, 115, 118, 119, 125, 126, 131 Extracellular Matrix, 6, 8, 15, 115, 118, 119, 125, 126 Extracellular Matrix Proteins, 8, 118, 125 Extracellular Space, 118 Extraction, 109, 118, 133 F Facial, 4, 64, 119, 128 Facial Pain, 64, 119 Family Health, 70, 119 Family Planning, 87, 119 Fat, 111, 112, 115, 117, 119, 124, 134 Fatigue, 69, 119 Femoral, 46, 119, 121 Femoral Neck Fractures, 46, 119, 121

Femur, 119, 121 Fetus, 111, 119, 130, 136 Fibril, 7, 119 Fibroblasts, 22, 47, 115, 119 Fibronectins, 118, 119 Flexion, 42, 119 Fluorescence, 30, 45, 46, 119 Forearm, 110, 119 Fundus, 119 G Gallbladder, 107, 116, 119, 120 Ganglia, 119, 127 Gas, 119, 122, 127, 129 Gastric, 117, 120 Gastroenterology, 18, 69, 120 Gene Deletion, 6, 120 Gene Expression, 6, 120 Genetic Engineering, 110, 113, 120 Genetic Screening, 50, 120 Genetic testing, 46, 70, 120, 130 Genotype, 7, 9, 11, 20, 31, 41, 120, 129 Germ Layers, 111, 120 Gestation, 25, 120 Glossopharyngeal Nerve, 119, 120 Glucose, 110, 116, 120, 123 Glycine, 120, 133 Glycosaminoglycans, 118, 120 Governing Board, 120, 130 Graft, 13, 16, 41, 51, 94, 121 Growth, 6, 32, 73, 93, 96, 108, 109, 112, 117, 121, 127, 128, 129, 135, 136 Growth factors, 6, 121 H Headache, 30, 121 Headache Disorders, 121 Health Status, 119, 121 Heart attack, 112, 121 Heartbeat, 121, 135 Hemorrhage, 52, 115, 121, 131, 134 Hereditary, 95, 121 Heredity, 74, 120, 121 Heteroduplex Analysis, 29, 121 Heterogeneity, 8, 11, 121 Hip Fractures, 119, 121 Homeostasis, 5, 6, 121 Homogeneous, 115, 121 Hormone, 118, 121, 123, 135, 136 Host, 119, 121 Hybrid, 122 Hybridization, 8, 122 Hydrogen, 110, 116, 118, 122, 126, 128, 129 Hydroxylysine, 113, 122

142 Marfan Syndrome

Hydroxyproline, 113, 122 Hypertension, 12, 48, 111, 112, 121, 122 Hypertrophic cardiomyopathy, 35, 50, 122 Hypothyroidism, 38, 60, 122 I Id, 61, 65, 96, 102, 104, 122 Immune response, 108, 109, 122, 137 Immunofluorescence, 47, 122 Immunoglobulin, 108, 122, 126 Impairment, 26, 122, 125 In situ, 8, 9, 122 In Situ Hybridization, 8, 122 In vitro, 5, 122, 130, 136 In vivo, 5, 122 Incompetence, 40, 122 Indicative, 13, 74, 122, 129, 137 Induction, 57, 65, 122, 123 Induction therapy, 57, 65, 123 Infancy, 123 Infantile, 23, 35, 41, 123 Infarction, 115, 123, 125 Infection, 94, 109, 110, 123, 124, 125, 135, 137 Inflammation, 9, 109, 123 Ingestion, 123, 124 Insulin, 49, 123 Insulin-dependent diabetes mellitus, 49, 123 Internal Medicine, 7, 10, 31, 55, 120, 123 Intestines, 107, 123 Intracellular, 111, 123 Intracranial Aneurysm, 36, 123 Intramuscular, 94, 123 Intravenous, 94, 123 Invasive, 123, 125 J Joint, 19, 36, 39, 55, 64, 123, 124 K Kb, 86, 123 L Laminin, 110, 118, 123 Large Intestine, 116, 123, 124, 132, 134 Latent, 5, 8, 9, 124, 130 Lathyrism, 35, 124 Lens, 11, 12, 14, 36, 37, 40, 56, 60, 93, 109, 112, 116, 124, 137 Lens Subluxation, 40, 60, 124 Lesion, 124 Lethal, 8, 22, 60, 124 Lethargy, 122, 124 Leukemia, 124 Library Services, 102, 124

Life Expectancy, 76, 124 Ligaments, 115, 124 Linkage, 4, 28, 31, 37, 124 Lipid, 123, 124 Liver, 107, 116, 119, 120, 124, 133 Liver scan, 124, 133 Localization, 34, 124 Localized, 123, 124, 129, 133 Lumbar, 38, 52, 54, 109, 124 Lumen, 45, 117, 124 Luxation, 116, 124 Lymph, 113, 117, 124, 125, 135 Lymph node, 113, 125 Lymphatic, 117, 123, 124, 125, 129 Lymphoblastic, 125 Lymphoblasts, 107, 125 Lymphoid, 108, 125 M Magnetic Resonance Imaging, 27, 69, 125, 133 Malformation, 6, 125 Mammary, 35, 125 Mammogram, 111, 125, 126 Manifest, 7, 125 Matrix metalloproteinase, 37, 125 Medial, 27, 125 Medical Records, 70, 125, 133 MEDLINE, 87, 125 Meninges, 112, 115, 125 Meningocele, 15, 16, 35, 125 Mental Disorders, 71, 125 Mesenchymal, 5, 118, 125 Metastasis, 125 MI, 106, 125 Microbiology, 107, 109, 125 Microcalcifications, 111, 126 Microfibrils, 6, 7, 8, 9, 11, 64, 65, 74, 126 Microscopy, 7, 110, 121, 126 Milliliter, 111, 126 Mineralization, 12, 126 Mitosis, 109, 126 Mitral Valve, 7, 17, 34, 49, 75, 76, 93, 126 Mitral Valve Prolapse, 7, 75, 76, 93, 126 Modeling, 6, 40, 126 Modification, 38, 120, 126, 132 Molecular, 3, 4, 8, 10, 11, 13, 20, 26, 31, 35, 41, 42, 44, 46, 48, 55, 64, 87, 89, 110, 114, 126 Molecule, 5, 108, 110, 114, 118, 126, 128, 132 Monitor, 7, 126, 127 Monoclonal, 11, 126

Index 143

Monoclonal antibodies, 11, 126 Monogenic, 8, 126 Morphogenesis, 6, 7, 9, 126 Morphological, 117, 126 Morphology, 13, 112, 126 Mosaicism, 47, 126 Mydriatic, 116, 127 Myocardium, 125, 127 Myopia, 127, 132 N NCI, 1, 70, 85, 113, 127 Necrosis, 109, 123, 125, 127, 133 Need, 3, 73, 75, 77, 81, 97, 125, 127 Neonatal, 7, 11, 15, 20, 22, 24, 32, 42, 44, 45, 48, 49, 56, 127 Neoplastic, 119, 127 Nephrosis, 127 Nephrotic, 18, 127, 132 Nephrotic Syndrome, 18, 127, 132 Nerve, 107, 108, 113, 120, 127, 128, 136 Nervous System, 74, 94, 112, 127 Neural, 125, 127, 132 Neutrophil, 33, 127 Nitrogen, 118, 127, 136 Norepinephrine, 107, 127 Nuclear, 12, 118, 127 Nuclei, 120, 125, 126, 128 Nucleic acid, 110, 122, 127, 128, 132 Nucleic Acid Hybridization, 122, 128 Nucleus, 109, 113, 115, 118, 128, 134 O Ocular, 7, 9, 11, 12, 34, 43, 76, 81, 92, 93, 95, 128 On-line, 14, 105, 128 Opacity, 112, 116, 128 Ophthalmic, 35, 43, 46, 52, 56, 60, 128, 132 Ophthalmic Artery, 128, 132 Ophthalmology, 9, 14, 31, 33, 34, 36, 37, 40, 43, 60, 64, 69, 128, 133 Opsin, 128, 132 Optic Nerve, 128, 132 Orderly, 7, 128 Organ Culture, 6, 10, 128, 136 Orofacial, 119, 128 Osseointegration, 111, 128 Osteogenesis, 111, 128 Ovum, 120, 128, 138 P Palate, 4, 120, 128 Palliative, 7, 128, 135 Palliative therapy, 7, 128 Pancreas, 107, 116, 120, 123, 128

Pathogenesis, 5, 10, 11, 25, 30, 55, 76, 129 Pathologic, 9, 109, 110, 115, 129 Pathologic Processes, 109, 129 Pathophysiology, 12, 129 Patient Education, 93, 100, 102, 106, 129 Pelvic, 15, 129 Peptide, 129, 130, 131, 136 PH, 44, 50, 111, 129 Pharmacologic, 10, 108, 129, 136 Phenotype, 6, 8, 9, 11, 12, 20, 21, 31, 41, 76, 93, 120, 129 Phosphorus, 111, 129 Physical Examination, 69, 94, 129 Physiologic, 110, 129, 132 Physiology, 5, 6, 111, 117, 120, 129 Pigment, 128, 129, 132 Plants, 120, 124, 126, 127, 129, 136 Plasma, 108, 112, 117, 119, 129, 133 Plasma cells, 108, 129 Plexus, 53, 129 Pneumothorax, 28, 45, 129 Polymerase, 45, 130 Polymerase Chain Reaction, 45, 130 Polymorphic, 8, 24, 130 Polypeptide, 107, 113, 117, 122, 130, 138 Pons, 110, 130 Posterior, 109, 110, 116, 120, 128, 130 Practice Guidelines, 88, 130 Preclinical, 8, 130 Precursor, 117, 127, 130, 136 Predisposition, 7, 130 Prenatal, 25, 28, 42, 46, 52, 117, 120, 130 Prenatal Diagnosis, 25, 28, 42, 46, 52, 130 Prevalence, 9, 76, 130 Progression, 4, 130 Progressive, 12, 121, 127, 130, 131 Prolapse, 76, 93, 130 Proline, 113, 122, 130 Prophylaxis, 94, 131 Protease, 11, 131 Protective Agents, 111, 131 Protein C, 12, 107, 131 Protein S, 75, 110, 131 Protein Transport, 15, 131 Proteinuria, 127, 131 Proteoglycans, 110, 118, 131 Protocol, 7, 12, 131 Pseudoxanthoma, 12, 33, 131 Pseudoxanthoma Elasticum, 12, 33, 131 Puberty, 131 Public Policy, 87, 131 Publishing, 13, 131

144 Marfan Syndrome

Pulmonary, 9, 12, 45, 47, 93, 110, 131, 137 Pulmonary Artery, 110, 131, 137 Pulse, 19, 126, 131 Pupil, 116, 124, 127, 131 Purines, 132, 133 Q Quality of Life, 12, 69, 93, 128, 132 R Radiation, 119, 132, 133, 137 Radioactive, 111, 122, 124, 126, 127, 132, 133 Radiography, 45, 132 Receptor, 27, 107, 108, 132 Rectum, 111, 116, 120, 124, 132 Refer, 1, 113, 124, 132 Regurgitation, 36, 126, 132 Renal vein thrombosis, 18, 132 Respiration, 43, 109, 126, 132 Retina, 49, 50, 108, 112, 114, 124, 127, 128, 131, 132, 133, 137 Retinal, 7, 49, 50, 128, 132 Retinal Artery, 132 Retinal Artery Occlusion, 132 Retinal Detachment, 49, 132 Retinol, 132, 133 Retrospective, 42, 49, 54, 133 Retrospective study, 49, 54, 133 Risk factor, 12, 133 Rod, 64, 133 S Salivary, 116, 133, 135 Salivary glands, 116, 133 Scans, 69, 133 Scleroderma, 11, 133 Scoliosis, 35, 36, 49, 53, 56, 64, 133 Screening, 40, 41, 53, 113, 120, 133 Secretion, 117, 122, 123, 133 Semen, 109, 133 Sequencer, 45, 46, 133 Sequencing, 130, 133 Sequester, 9, 133 Serine, 5, 133 Serous, 117, 133 Side effect, 107, 110, 133, 136 Signs and Symptoms, 69, 133 Sinus of Valsalva, 14, 134 Skeletal, 3, 7, 8, 9, 11, 19, 28, 38, 51, 74, 76, 81, 93, 95, 134 Skeleton, 6, 74, 94, 119, 123, 134 Skull, 115, 125, 134, 135 Sleep apnea, 12, 134 Small intestine, 121, 123, 134, 137

Smooth muscle, 9, 15, 27, 44, 111, 115, 134 Social Environment, 132, 134 Soft tissue, 111, 134 Specialist, 97, 116, 134 Species, 118, 122, 126, 134, 136 Sperm, 113, 134 Spermatozoa, 109, 133, 134 Spinal cord, 112, 118, 125, 127, 134 Sporadic, 4, 42, 134 Stabilization, 12, 134 Staging, 133, 134 Stomach, 107, 116, 118, 119, 120, 121, 123, 134 Strand, 130, 134 Stress, 7, 94, 106, 130, 134 Stroke, 23, 36, 42, 71, 86, 112, 134 Subacute, 13, 16, 123, 135 Subarachnoid, 121, 135 Subclinical, 23, 123, 135 Submaxillary, 117, 135 Sudden death, 38, 39, 40, 52, 135 Sulfur, 118, 135 Support group, 77, 135 Symptomatic, 36, 53, 135 Systemic, 108, 110, 118, 123, 133, 135 Systole, 126, 135 Systolic, 122, 126, 135 T Temporal, 8, 121, 135 Therapeutics, 20, 63, 135 Thermal, 130, 135 Thigh, 119, 135 Thoracic, 5, 8, 15, 16, 21, 26, 27, 32, 38, 40, 43, 49, 50, 51, 52, 54, 57, 93, 109, 135 Thorax, 30, 49, 124, 135 Threonine, 133, 135 Threshold, 122, 135 Thrombin, 131, 135 Thrombomodulin, 131, 135 Thrombosis, 131, 134, 135 Thyroid, 122, 135, 136 Thyroid Gland, 135, 136 Thyrotropin, 122, 136 Thyroxine, 38, 60, 136 Tissue Culture, 9, 136 Tomography, 136 Tooth Preparation, 107, 136 Toxic, iv, 116, 136 Toxicity, 116, 136 Toxicology, 88, 136 Toxins, 108, 123, 126, 136 Transfection, 9, 110, 136

Index 145

Translocation, 60, 131, 136 Transplantation, 49, 136 Trauma, 109, 127, 136 Trigeminal, 119, 136 Tropoelastin, 9, 136 Tryptophan, 113, 136 U Unconscious, 122, 136 Urine, 69, 117, 131, 136 Uterus, 113, 119, 136 V Vaccine, 131, 137 Valves, 94, 137 Vascular, 5, 8, 9, 12, 15, 20, 27, 32, 44, 94, 111, 117, 121, 123, 135, 137 Vasodilation, 26, 137 Vein, 108, 109, 123, 127, 137 Venous, 53, 109, 131, 137 Ventricle, 109, 126, 131, 135, 137 Ventricular, 17, 36, 137 Ventricular Function, 36, 137 Venules, 111, 117, 137

Vertebral, 110, 125, 137 Vesicular, 131, 137 Veterinary Medicine, 87, 137 Villus, 46, 137 Virus, 112, 117, 120, 137 Visual field, 132, 137 Vitreous Body, 124, 132, 137 Vitreous Humor, 133, 137 Vitro, 137 Vivo, 5, 137 W White blood cell, 107, 108, 125, 127, 129, 137 Wound Healing, 33, 125, 137 X X-ray, 69, 111, 114, 119, 125, 127, 133, 137 Y Yeasts, 129, 137 Z Zygote, 127, 138 Zymogen, 131, 138

146 Marfan Syndrome

Index 147

148 Marfan Syndrome