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

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

Author: ICON Health Publications

10 downloads 710 Views 2MB Size Report

This content was uploaded by our users and we assume good faith they have the permission to share this book. If you own the copyright to this book and it is wrongfully on our website, we offer a simple DMCA procedure to remove your content from our site. Start by pressing the button below!

Report copyright / DMCA form

DOWNLOAD PDF

PRADER-WILLI 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

ii

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., 1960Prader-Willi 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: 0-597-84555-7 1. Prader-Willi Syndrome-Popular works. I. Title.

iii

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.

iv

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 Prader-Willi 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.

v

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.

vi

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

vii

Table of Contents FORWARD .......................................................................................................................................... 1 CHAPTER 1. STUDIES ON PRADER-WILLI SYNDROME ...................................................................... 3 Overview........................................................................................................................................ 3 The Combined Health Information Database................................................................................. 3 Federally Funded Research on Prader-Willi Syndrome................................................................. 4 The National Library of Medicine: PubMed .................................................................................. 4 CHAPTER 2. NUTRITION AND PRADER-WILLI SYNDROME ............................................................ 49 Overview...................................................................................................................................... 49 Finding Nutrition Studies on Prader-Willi Syndrome................................................................ 49 Federal Resources on Nutrition ................................................................................................... 52 Additional Web Resources ........................................................................................................... 53 CHAPTER 3. DISSERTATIONS ON PRADER-WILLI SYNDROME ........................................................ 55 Overview...................................................................................................................................... 55 Dissertations on Prader-Willi Syndrome..................................................................................... 55 Keeping Current .......................................................................................................................... 56 CHAPTER 4. CLINICAL TRIALS AND PRADER-WILLI SYNDROME................................................... 57 Overview...................................................................................................................................... 57 Recent Trials on Prader-Willi Syndrome..................................................................................... 57 Keeping Current on Clinical Trials ............................................................................................. 58 CHAPTER 5. BOOKS ON PRADER-WILLI SYNDROME ...................................................................... 61 Overview...................................................................................................................................... 61 Book Summaries: Federal Agencies.............................................................................................. 61 Chapters on Prader-Willi Syndrome............................................................................................ 62 CHAPTER 6. PERIODICALS AND NEWS ON PRADER-WILLI SYNDROME......................................... 65 Overview...................................................................................................................................... 65 News Services and Press Releases................................................................................................ 65 Academic Periodicals covering Prader-Willi Syndrome .............................................................. 67 CHAPTER 7. RESEARCHING MEDICATIONS .................................................................................... 69 Overview...................................................................................................................................... 69 U.S. Pharmacopeia....................................................................................................................... 69 Commercial Databases ................................................................................................................. 70 Researching Orphan Drugs ......................................................................................................... 70 APPENDIX A. PHYSICIAN RESOURCES ............................................................................................ 75 Overview...................................................................................................................................... 75 NIH Guidelines............................................................................................................................ 75 NIH Databases............................................................................................................................. 77 Other Commercial Databases....................................................................................................... 79 The Genome Project and Prader-Willi Syndrome........................................................................ 79 APPENDIX B. PATIENT RESOURCES ................................................................................................. 83 Overview...................................................................................................................................... 83 Patient Guideline Sources............................................................................................................ 83 Associations and Prader-Willi Syndrome.................................................................................... 87 Finding Associations.................................................................................................................... 88 APPENDIX C. FINDING MEDICAL LIBRARIES .................................................................................. 91 Overview...................................................................................................................................... 91 Preparation................................................................................................................................... 91 Finding a Local Medical Library.................................................................................................. 91 Medical Libraries in the U.S. and Canada ................................................................................... 91 ONLINE GLOSSARIES.................................................................................................................. 97 Online Dictionary Directories ..................................................................................................... 99

viii Contents

PRADER-WILLI SYNDROME DICTIONARY........................................................................ 101 INDEX .............................................................................................................................................. 129

1

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 Prader-Willi 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 Prader-Willi 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 Prader-Willi 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 Prader-Willi 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 Prader-Willi 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 Prader-Willi syndrome. The Editors

1

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

3

CHAPTER 1. STUDIES ON PRADER-WILLI SYNDROME Overview In this chapter, we will show you how to locate peer-reviewed references and studies on Prader-Willi 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 Prader-Willi 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 “Prader-Willi 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: •

Prader-Willi Syndrome: Report of a Case With Special Emphasis on Oral Problems Source: Journal of Clinical Pediatric Dentistry. 17(1): 37-40. Fall 1992. Summary: This article reports a case of Prader Willi syndrome (PWS). The patient manifested obesity, hypogonadism, hypotonia, mental retardation, small hands and feet, prominent forehead, bitemporal narrowing, strabismus, hypoplastic teeth, generalized caries, and thick, sticky saliva. The patient presented at two different ages (10 and 14), and the development of the characteristics of the syndrome is described. The authors emphasize the oral findings, especially the generalized caries, that led to an almost complete destruction of the teeth. The generalized caries was probably caused by excessive consumption of carbohydrates, in connection with the hypoplastic enamel, the reduced secretion of sticky and thick saliva, and neglected oral hygiene, a common

4

Prader-Willi Syndrome

occurrence among mentally retarded children. This problem can be eliminated by early dental intervention with appropriate preventive and restorative procedures. The authors stress that the role of the dentist is crucial to controlling dental problems in this syndrome. 7 figures. 19 references. (AA-M).

Federally Funded Research on Prader-Willi Syndrome The U.S. Government supports a variety of research studies relating to Prader-Willi 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 Prader-Willi 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 Prader-Willi syndrome.

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

2

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

Studies

5

•

A fetus with Prader-Willi syndrome showing normal diurnal rhythm and abnormal ultradian rhythm on heart rate monitoring. Author(s): Hiroi H, Kozuma S, Hayashi N, Unno N, Fujii T, Tsutsumi O, Okai T, Taketani Y. Source: Fetal Diagnosis and Therapy. 2000 September-October; 15(5): 304-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10971085

•

A further case of a Prader-Willi syndrome phenotype in a patient with Angelman syndrome molecular defect. Author(s): De Molfetta GA, Felix TM, Riegel M, Ferraz VE, de Pina Neto JM. Source: Arquivos De Neuro-Psiquiatria. 2002 December; 60(4): 1011-4. Epub 2003 January 15. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12563398

•

Abnormal cortical development shown by 3D MRI in Prader-Willi syndrome. Author(s): Yoshii A, Krishnamoorthy KS, Grant PE. Source: Neurology. 2002 August 27; 59(4): 644-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12196672

•

Absence of microdeletions in the Y chromosome in patients with Prader-Willi syndrome with cryptorchidism. Author(s): Suzuki Y, Sasagawa I, Tateno T, Yazawa H, Ashida J, Nakada T. Source: International Journal of Andrology. 2002 February; 25(1): 1-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11869370

•

Accidental hypothermia in an infant with Prader-Willi syndrome. Author(s): Watanabe T, Iwabuchi H, Oishi M. Source: European Journal of Pediatrics. 2003 July; 162(7-8): 550-1. Epub 2003 June 11. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12802688

•

Activity related energy expenditure in children and adolescents with Prader-Willi syndrome. Author(s): van Mil EG, Westerterp KR, Kester AD, Curfs LM, Gerver WJ, SchranderStumpel CT, Saris WH. Source: International Journal of Obesity and Related Metabolic Disorders : Journal of the International Association for the Study of Obesity. 2000 April; 24(4): 429-34. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10805499

6

Prader-Willi Syndrome

•

Adiposity indices in German children and adolescents with genetically confirmed Prader-Willi syndrome (PWS). Author(s): Hauffa BP, Schlippe G, Gillessen-Kaesbach G. Source: International Journal of Obesity and Related Metabolic Disorders : Journal of the International Association for the Study of Obesity. 2001 May; 25 Suppl 1: S22-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11466581

•

Adult patients with Prader-Willi syndrome: clinical characteristics, life circumstances and growth hormone secretion. Author(s): Partsch CJ, Lammer C, Gillessen-Kaesbach G, Pankau R. Source: Growth Hormone & Igf Research : Official Journal of the Growth Hormone Research Society and the International Igf Research Society. 2000 April; 10 Suppl B: S815. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10984259

•

Aerodynamic and acoustic characteristics of voice in Prader-Willi syndrome. Author(s): Defloor T, Van Borsel J, Curfs L, De Bodt M. Source: Journal of Voice : Official Journal of the Voice Foundation. 2001 June; 15(2): 28490. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11411482

•

Aggravation of food-related behavior in an adolescent with Prader-Willi syndrome treated with fluvoxamine and fluoxetine. Author(s): Kohn Y, Weizman A, Apter A. Source: The International Journal of Eating Disorders. 2001 July; 30(1): 113-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11439417

•

An adult with Prader-Willi syndrome and anorexia nervosa: a case report. Author(s): Counts D. Source: The International Journal of Eating Disorders. 2001 September; 30(2): 231-3. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11449460

•

Anaesthetic considerations for a child with combined Prader-Willi syndrome and mitochondrial myopathy. Author(s): Sharma AD, Erb T, Schulman SR, Sreeram G, Slaughter TF. Source: Paediatric Anaesthesia. 2001 July; 11(4): 488-90. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11442870

Studies

7

•

Analysis of imprinted genes in subjects with Prader-Willi syndrome and chromosome 15 abnormalities. Author(s): Muralidhar B, Marney A, Butler MG. Source: Genetics in Medicine : Official Journal of the American College of Medical Genetics. 1999 May-June; 1(4): 141-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11258349

•

Anesthesia for pediatric patients with Prader-Willi syndrome: report of two cases. Author(s): Tseng CH, Chen C, Wong CH, Wong SY, Wong KM. Source: Chang Gung Med J. 2003 June; 26(6): 453-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12956294

•

Appetitive behavior, compulsivity, and neurochemistry in Prader-Willi syndrome. Author(s): Dimitropoulos A, Feurer ID, Roof E, Stone W, Butler MG, Sutcliffe J, Thompson T. Source: Mental Retardation and Developmental Disabilities Research Reviews. 2000; 6(2): 125-30. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10899805

•

Are jigsaw puzzle skills 'spared' in persons with Prader-Willi syndrome? Author(s): Dykens EM. Source: Journal of Child Psychology and Psychiatry, and Allied Disciplines. 2002 March; 43(3): 343-52. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11944876

•

Articulation in Prader-Willi syndrome. Author(s): Defloor T, Van Borsel J, Curfs L. Source: Journal of Communication Disorders. 2002 May-June; 35(3): 261-82. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12064787

•

Atypical presentation of the Prader-Willi syndrome. Mosaic trisomy 15? Author(s): Vogels A, Holvoet M, Descheemaeker MJ, Fryns JP, Devriendt K. Source: Annales De Genetique. 2002 January-March; 45(1): 1-3. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11934381

•

Autonomy and intellectual disability: the case of prevention of obesity in PraderWilli syndrome. Author(s): Hooren RH, Widdershoven GA, Borne HW, Curfs LM. Source: Journal of Intellectual Disability Research : Jidr. 2002 October; 46(Pt 7): 560-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12354312

8

Prader-Willi Syndrome

•

Auxological and endocrine evolution of 28 children with Prader-Willi syndrome: effect of GH therapy in 14 children. Author(s): Tauber M, Barbeau C, Jouret B, Pienkowski C, Malzac P, Moncla A, Rochiccioli P. Source: Hormone Research. 2000; 53(6): 279-87. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11146368

•

Balanced translocation 46,XY,t(2;15)(q37.2;q11.2) associated with atypical Prader-Willi syndrome. Author(s): Conroy JM, Grebe TA, Becker LA, Tsuchiya K, Nicholls RD, Buiting K, Horsthemke B, Cassidy SB, Schwartz S. Source: American Journal of Human Genetics. 1997 August; 61(2): 388-94. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9311744

•

Behavior and emotional disturbance in Prader-Willi syndrome. Author(s): Einfeld SL, Smith A, Durvasula S, Florio T, Tonge BJ. Source: American Journal of Medical Genetics. 1999 January 15; 82(2): 123-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9934974

•

Behavior and personality characteristics of children and young adults with PraderWilli syndrome: a controlled study. Author(s): Akefeldt A, Gillberg C. Source: Journal of the American Academy of Child and Adolescent Psychiatry. 1999 June; 38(6): 761-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10361796

•

Behavioral and emotional problems in youngsters with Prader-Willi syndrome. Author(s): Curfs LM, Verhulst FC, Fryns JP. Source: Genet Couns. 1991; 2(1): 33-41. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1741975

•

Behavioral differences among subjects with Prader-Willi syndrome and type I or type II deletion and maternal disomy. Author(s): Butler MG, Bittel DC, Kibiryeva N, Talebizadeh Z, Thompson T. Source: Pediatrics. 2004 March; 113(3 Pt 1): 565-73. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=14993551

•

Behavioral phenotypes in four mental retardation syndromes: fetal alcohol syndrome, Prader-Willi syndrome, fragile X syndrome, and tuberosis sclerosis. Author(s): Steinhausen HC, Von Gontard A, Spohr HL, Hauffa BP, Eiholzer U, Backes M, Willms J, Malin Z. Source: American Journal of Medical Genetics. 2002 September 1; 111(4): 381-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12210296

Studies

9

•

Behavioural phenotypes associated with specific genetic disorders: evidence from a population-based study of people with Prader-Willi syndrome. Author(s): Holland AJ, Whittington JE, Butler J, Webb T, Boer H, Clarke D. Source: Psychological Medicine. 2003 January; 33(1): 141-53. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12537045

•

Beneficial effects of exercise on aerobic capacity and body composition in adults with Prader-Willi syndrome. Author(s): Silverthorn KH, Hornak JE. Source: Am J Ment Retard. 1993 May; 97(6): 654-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8517945

•

Benefits of long-term GH therapy in Prader-Willi syndrome: a 4-year study. Author(s): Carrel AL, Myers SE, Whitman BY, Allen DB. Source: The Journal of Clinical Endocrinology and Metabolism. 2002 April; 87(4): 1581-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11932286

•

Beta3-adrenergic receptor gene studies in patients with Prader-Willi syndrome. Author(s): Butler MG, Hedges LK, Babe KS Jr. Source: American Journal of Medical Genetics. 1997 October 3; 72(1): 115-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9295087

•

Bilateral non-communicating paraurethral meatus in Prader-Willi syndrome. Author(s): Cento RM, Alberti A, Brancati G, Ragusa L, Pettinato R, Rossodivita A, Colabucci F, Lanzone A. Source: Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology. 1997 April; 11(2): 135-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9174855

•

Biliopancreatic bypass in the Prader-Willi syndrome. Author(s): Brossy JJ. Source: The British Journal of Surgery. 1989 March; 76(3): 313. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2720332

•

Birth prevalence of Prader-Willi syndrome in Australia. Author(s): Smith A, Egan J, Ridley G, Haan E, Montgomery P, Williams K, Elliott E. Source: Archives of Disease in Childhood. 2003 March; 88(3): 263-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12598399

10

Prader-Willi Syndrome

•

Birth seasonality in Prader-Willi syndrome. Author(s): Butler MG, Ledbetter DH, Mascarello JT. Source: Lancet. 1985 October 12; 2(8459): 828-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2864545

•

Blunted pancreatic polypeptide responses in children with obesity of Prader-Willi syndrome. Author(s): Zipf WB, O'Dorisio TM, Cataland S, Sotos J. Source: The Journal of Clinical Endocrinology and Metabolism. 1981 June; 52(6): 1264-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7014602

•

Body composition abnormalities in children with Prader-Willi syndrome and longterm effects of growth hormone therapy. Author(s): Eiholzer U, l'Allemand D, van der Sluis I, Steinert H, Gasser T, Ellis K. Source: Hormone Research. 2000; 53(4): 200-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11044804

•

Body composition in Prader-Willi syndrome compared with nonsyndromal obesity: Relationship to physical activity and growth hormone function. Author(s): van Mil EG, Westerterp KR, Gerver WJ, Van Marken Lichtenbelt WD, Kester AD, Saris WH. Source: The Journal of Pediatrics. 2001 November; 139(5): 708-14. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11713451

•

Body composition in Prader-Willi syndrome: assessment and effects of growth hormone administration. Author(s): Davies PS. Source: Acta Paediatrica (Oslo, Norway : 1992). Supplement. 1999 December; 88(433): 105-8. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10626557

•

Body composition studies in Prader-Willi syndrome: effects of growth hormone therapy. Author(s): Lee PD, Hwu K, Henson H, Brown BT, Bricker JT, LeBlanc AD, Fiorotto ML, Greenberg F, Klish WJ. Source: Basic Life Sci. 1993; 60: 201-5. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8110110

•

Breakage in the SNRPN locus in a balanced 46,XY,t(15;19) Prader-Willi syndrome patient. Author(s): Sun Y, Nicholls RD, Butler MG, Saitoh S, Hainline BE, Palmer CG. Source: Human Molecular Genetics. 1996 April; 5(4): 517-24. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8845846

Studies

11

•

Carbohydrate metabolism is not impaired after 3 years of growth hormone therapy in children with Prader-Willi syndrome. Author(s): L'Allemand D, Eiholzer U, Schlumpf M, Torresani T, Girard J. Source: Hormone Research. 2003; 59(5): 239-48. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12714788

•

Cardiovascular risk factors improve during 3 years of growth hormone therapy in Prader-Willi syndrome. Author(s): l'Allemand D, Eiholzer U, Schlumpf M, Steinert H, Riesen W. Source: European Journal of Pediatrics. 2000 November; 159(11): 835-42. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11079197

•

Cataplexy in the Prader-Willi syndrome. Author(s): Tobias ES, Tolmie JL, Stephenson JB. Source: Archives of Disease in Childhood. 2002 August; 87(2): 170. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12138077

•

Catatonia in an adolescent with Prader-Willi Syndrome. Author(s): Dhossche DM, Bouman NH. Source: Annals of Clinical Psychiatry : Official Journal of the American Academy of Clinical Psychiatrists. 1997 December; 9(4): 247-53. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9511949

•

Cerebrospinal fluid levels of oxytocin in Prader-Willi syndrome: a preliminary report. Author(s): Martin A, State M, Anderson GM, Kaye WM, Hanchett JM, McConaha CW, North WG, Leckman JF. Source: Biological Psychiatry. 1998 December 15; 44(12): 1349-52. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9861478

•

Cerebrospinal fluid monoamines in Prader-Willi syndrome. Author(s): Akefeldt A, Ekman R, Gillberg C, Mansson JE. Source: Biological Psychiatry. 1998 December 15; 44(12): 1321-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9861475

•

Cerebrospinal fluid neuropeptide Y in Prader-Willi syndrome. Author(s): Akefeldt A, Ekman R, Mansson JE. Source: Developmental Medicine and Child Neurology. 2001 April; 43(4): 286-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11305409

12

Prader-Willi Syndrome

•

Chromosome 15 maternal uniparental disomy and psychosis in Prader-Willi syndrome. Author(s): Vogels A, Matthijs G, Legius E, Devriendt K, Fryns JP. Source: Journal of Medical Genetics. 2003 January; 40(1): 72-3. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12525547

•

Circulating ghrelin levels are suppressed by meals and octreotide therapy in children with Prader-Willi syndrome. Author(s): Haqq AM, Stadler DD, Rosenfeld RG, Pratt KL, Weigle DS, Frayo RS, LaFranchi SH, Cummings DE, Purnell JQ. Source: The Journal of Clinical Endocrinology and Metabolism. 2003 August; 88(8): 3573-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12915638

•

Clinical features and molecular genetic analysis of a boy with Prader-Willi syndrome caused by an imprinting defect. Author(s): Schulze A, Hansen C, Baekgaard P, Blichfeldt S, Petersen MB, Tommerup N, Brondum-Nielsen K. Source: Acta Paediatrica (Oslo, Norway : 1992). 1997 August; 86(8): 906-10. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9307178

•

Clinical spectrum and molecular diagnosis of Angelman and Prader-Willi syndrome patients with an imprinting mutation. Author(s): Saitoh S, Buiting K, Cassidy SB, Conroy JM, Driscoll DJ, Gabriel JM, Gillessen-Kaesbach G, Glenn CC, Greenswag LR, Horsthemke B, Kondo I, Kuwajima K, Niikawa N, Rogan PK, Schwartz S, Seip J, Williams CA, Nicholls RD. Source: American Journal of Medical Genetics. 1997 January 20; 68(2): 195-206. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9028458

•

Coenzyme Q10 levels in Prader-Willi syndrome: comparison with obese and nonobese subjects. Author(s): Butler MG, Dasouki M, Bittel D, Hunter S, Naini A, DiMauro S. Source: American Journal of Medical Genetics. 2003 June 1; 119A(2): 168-71. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12749057

•

Cognition, attention, and behavior in Prader-Willi syndrome. Author(s): Gross-Tsur V, Landau YE, Benarroch F, Wertman-Elad R, Shalev RS. Source: Journal of Child Neurology. 2001 April; 16(4): 288-90. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11332464

Studies

13

•

Comparison of leptin protein levels in Prader-Willi syndrome and control individuals. Author(s): Butler MG, Moore J, Morawiecki A, Nicolson M. Source: American Journal of Medical Genetics. 1998 January 6; 75(1): 7-12. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9450849

•

Comparison of phenotype between patients with Prader-Willi syndrome due to deletion 15q and uniparental disomy 15. Author(s): Cassidy SB, Forsythe M, Heeger S, Nicholls RD, Schork N, Benn P, Schwartz S. Source: American Journal of Medical Genetics. 1997 February 11; 68(4): 433-40. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9021017

•

Comparison of phenotype in uniparental disomy and deletion Prader-Willi syndrome: sex specific differences. Author(s): Mitchell J, Schinzel A, Langlois S, Gillessen-Kaesbach G, Schuffenhauer S, Michaelis R, Abeliovich D, Lerer I, Christian S, Guitart M, McFadden DE, Robinson WP. Source: American Journal of Medical Genetics. 1996 October 16; 65(2): 133-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8911605

•

Congenital hypothyroidism with Prader-Willi syndrome. Author(s): Sher C, Bistritzer T, Reisler G, Reish O. Source: J Pediatr Endocrinol Metab. 2002 January; 15(1): 105-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11822575

•

Contaminated and unusual food combinations: what do people with Prader-Willi syndrome choose? Author(s): Dykens EM. Source: Mental Retardation. 2000 April; 38(2): 163-71. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10804706

•

Coping with Prader-Willi syndrome. Author(s): Goldberg DL, Garrett CL, Van Riper C, Warzak WJ. Source: Journal of the American Dietetic Association. 2002 April; 102(4): 537-42. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11985412

•

Cutaneous blood flow and thermoregulation in Prader-Willi syndrome patients. Author(s): DiMario FJ Jr, Burleson JA. Source: Pediatric Neurology. 2002 February; 26(2): 130-3. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11897477

14

Prader-Willi Syndrome

•

Daily profile of serum leptin in Prader-Willi syndrome complicated by diabetes mellitus--a case report. Author(s): Isotani H, Kameoka K, Furukawa K. Source: Hormone and Metabolic Research. Hormon- Und Stoffwechselforschung. Hormones Et Metabolisme. 1997 December; 29(12): 611-2. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9497896

•

Daytime sleepiness and REM abnormalities in Prader-Willi syndrome: evidence of generalized hypoarousal. Author(s): Vgontzas AN, Bixler EO, Kales A, Centurione A, Rogan PK, Mascari M, VelaBueno A. Source: The International Journal of Neuroscience. 1996 November; 87(3-4): 127-39. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9003974

•

De novo paracentric inversion (X)(q26q28) with features mimicking Prader-Willi syndrome. Author(s): Florez L, Anderson M, Lacassie Y. Source: American Journal of Medical Genetics. 2003 August 15; 121A(1): 60-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12900904

•

Death in adults with Prader-Willi syndrome may be correlated with maternal uniparental disomy. Author(s): Smith A, Loughnan G, Steinbeck K. Source: Journal of Medical Genetics. 2003 May; 40(5): E63. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12746417

•

Decreased bone mineral density in Prader-Willi syndrome: comparison with obese subjects. Author(s): Butler MG, Haber L, Mernaugh R, Carlson MG, Price R, Feurer ID. Source: American Journal of Medical Genetics. 2001 October 15; 103(3): 216-22. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11745993

•

Decreased energy expenditure is caused by abnormal body composition in infants with Prader-Willi Syndrome. Author(s): Bekx MT, Carrel AL, Shriver TC, Li Z, Allen DB. Source: The Journal of Pediatrics. 2003 September; 143(3): 372-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=14517523

•

Delayed diagnosis in patients with Prader-Willi syndrome due to maternal uniparental disomy 15. Author(s): Gunay-Aygun M, Heeger S, Schwartz S, Cassidy SB. Source: American Journal of Medical Genetics. 1997 July 11; 71(1): 106-10. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9215778

Studies

15

•

Deletion of small nuclear ribonucleoprotein polypeptide N (SNRPN) in Prader-Willi syndrome detected by fluorescence in situ hybridization: two sibs with the typical phenotype without a cytogenetic deletion in chromosome 15q. Author(s): Ishikawa T, Kibe T, Wada Y. Source: American Journal of Medical Genetics. 1996 April 24; 62(4): 350-2. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8723064

•

Derivative Y chromosome resulting from a t(Y;15) (q12;q11.2) in a boy with PraderWilli syndrome. Author(s): Suzuki Y, Sasagawa I, Sawamura T, Ishigooka M, Kaneko H, Kubota Y, Nakada T. Source: International Urology and Nephrology. 1996; 28(6): 797-800. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9089049

•

Detection of chromosome 15 deletion in Prader-Willi syndrome using fluorescence in situ hybridization. Author(s): Suzuki Y, Sasagawa I, Yazawa H, Tateno T, Nakada T. Source: Archives of Andrology. 2000 July-August; 45(1): 13-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10959497

•

Development and validation of a measurement system for assessment of energy expenditure and physical activity in Prader-Willi syndrome. Author(s): Chen KY, Sun M, Butler MG, Thompson T, Carlson MG. Source: Obesity Research. 1999 July; 7(4): 387-94. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10440595

•

Diagnosis of the Prader-Willi syndrome by proving the absence of the unmethylated PW71 DNA fragment. Author(s): Lindgren AC, Grandell U, Ritzen EM, Anvret M. Source: Acta Paediatrica (Oslo, Norway : 1992). 1996 February; 85(2): 195-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8640049

•

Diagnostic dilemma caused by overlapping features of Prader-Willi syndrome and trisomy 18 during infancy. Author(s): Ishmael HA, Pasztor LM, Rothberg PG, Butler MG, Pfotenhauer J, Hannig V, Summar M. Source: The Journal of Pediatrics. 2000 January; 136(1): 135-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10636995

16

Prader-Willi Syndrome

•

Diagnostic test for the Prader-Willi syndrome by SNRPN expression in blood. Author(s): Wevrick R, Francke U. Source: Lancet. 1996 October 19; 348(9034): 1068-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8874459

•

Diagnostic testing for Prader-Willi syndrome and Angelman syndrome: a cost comparison. Author(s): Monaghan KG, Wiktor A, Van Dyke DL. Source: Genetics in Medicine : Official Journal of the American College of Medical Genetics. 2002 November-December; 4(6): 448-50. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12509717

•

Dietary intervention in the first four years prevents abnormal weight gain but negatively affects height development in Prader-Willi syndrome. Author(s): Schmidt H, Schwarz HP, Enders A. Source: Acta Paediatrica (Oslo, Norway : 1992). 2001 April; 90(4): 468-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11332946

•

Disease management of Prader-Willi syndrome. Author(s): Lee PD. Source: Expert Opinion on Pharmacotherapy. 2002 October; 3(10): 1451-9. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12387691

•

Does growth hormone therapy improve motor development in infants with PraderWilli syndrome? Author(s): Eiholzer U, Malich S, I'Allemand D. Source: European Journal of Pediatrics. 2000 April; 159(4): 299. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10789939

•

Down's 1864 case of Prader-Willi syndrome: a follow-up report. Author(s): Ward OC. Source: Journal of the Royal Society of Medicine. 1997 December; 90(12): 694-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9496304

•

Duplication within chromosome region 15q11-q13 in a patient with similarities to Prader-Willi syndrome confirmed by region-specific and band-specific fish. Author(s): Engelen JJ, Loots WJ, Albrechts JC, Schrander-Stumpel CT, Dirckx R, Smeets HJ, Hamers AJ, Geraedts JP. Source: Genet Couns. 1999; 10(2): 123-32. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10422004

Studies

17

•

Early manifestations of Prader-Willi syndrome: influence of growth hormone. Author(s): Eiholzer U, Schlumpf M, Nordmann Y, l'Allemand D. Source: J Pediatr Endocrinol Metab. 2001; 14 Suppl 6: 1441-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11837497

•

Eating behavior in Prader-Willi syndrome, normal weight, and obese control groups. Author(s): Lindgren AC, Barkeling B, Hagg A, Ritzen EM, Marcus C, Rossner S. Source: The Journal of Pediatrics. 2000 July; 137(1): 50-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10891821

•

Eating themselves to death: have “personal rights” gone too far in treating people with Prader-Willi syndrome? Author(s): Dykens EM, Goff BJ, Hodapp RM, Davis L, Devanzo P, Moss F, Halliday J, Shah B, State M, King B. Source: Mental Retardation. 1997 August; 35(4): 312-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9270240

•

Effect of 6 months of growth hormone treatment in young children with Prader-Willi syndrome. Author(s): Eiholzer U, Weber R, Stutz K, Steinert H. Source: Acta Paediatrica (Oslo, Norway : 1992). Supplement. 1997 November; 423: 66-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9401543

•

Effect of growth hormone on height, weight, and body composition in Prader-Willi syndrome. Author(s): Davies PS, Evans S, Broomhead S, Clough H, Day JM, Laidlaw A, Barnes ND. Source: Archives of Disease in Childhood. 1998 May; 78(5): 474-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9659098

•

Effect of growth hormone treatment on insulin action in adipocytes from children with Prader-Willi syndrome. Author(s): Kamel A, Norgren S, Lindgren AC, Luthman H, Arner P, Marcus C. Source: European Journal of Endocrinology / European Federation of Endocrine Societies. 1998 May; 138(5): 510-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9625361

•

Effect of regional fat distribution and Prader-Willi syndrome on plasma leptin levels. Author(s): Weigle DS, Ganter SL, Kuijper JL, Leonetti DL, Boyko EJ, Fujimoto WY. Source: The Journal of Clinical Endocrinology and Metabolism. 1997 February; 82(2): 566-70. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9024255

18

Prader-Willi Syndrome

•

Effects of 5 years growth hormone treatment in patients with Prader-Willi syndrome. Author(s): Obata K, Sakazume S, Yoshino A, Murakami N, Sakuta R. Source: J Pediatr Endocrinol Metab. 2003 February; 16(2): 155-62. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12713251

•

Effects of growth hormone on pulmonary function, sleep quality, behavior, cognition, growth velocity, body composition, and resting energy expenditure in Prader-Willi syndrome. Author(s): Haqq AM, Stadler DD, Jackson RH, Rosenfeld RG, Purnell JQ, LaFranchi SH. Source: The Journal of Clinical Endocrinology and Metabolism. 2003 May; 88(5): 2206-12. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12727976

•

Effects of growth hormone treatment in children with Prader-Willi syndrome. Author(s): Lee PD. Source: Growth Hormone & Igf Research : Official Journal of the Growth Hormone Research Society and the International Igf Research Society. 2000 April; 10 Suppl B: S759. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10984258

•

Effects of growth hormone treatment on growth and body composition in PraderWilli syndrome: a preliminary report. The Swedish National Growth Hormone Advisory Group. Author(s): Lindgren AC, Hagenas L, Muller J, Blichfeldt S, Rosenborg M, Brismar T, Ritzen EM. Source: Acta Paediatrica (Oslo, Norway : 1992). Supplement. 1997 November; 423: 60-2. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9401542

•

Elevated plasma gamma-aminobutyric acid (GABA) levels in individuals with either Prader-Willi syndrome or Angelman syndrome. Author(s): Ebert MH, Schmidt DE, Thompson T, Butler MG. Source: The Journal of Neuropsychiatry and Clinical Neurosciences. 1997 Winter; 9(1): 75-80. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9017532

•

Emergence of compulsive behavior and tantrums in children with Prader-Willi syndrome. Author(s): Dimitropoulos A, Feurer ID, Butler MG, Thompson T. Source: Am J Ment Retard. 2001 January; 106(1): 39-51. Erratum In: Am J Ment Retard 2001 May; 106(3): 208. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11246711

Studies

19

•

Endocrine dysfunction in Prader-Willi syndrome: a review with special reference to GH. Author(s): Burman P, Ritzen EM, Lindgren AC. Source: Endocrine Reviews. 2001 December; 22(6): 787-99. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11739333

•

Energy expenditure at rest and during sleep in children with Prader-Willi syndrome is explained by body composition. Author(s): van Mil EA, Westerterp KR, Gerver WJ, Curfs LM, Schrander-Stumpel CT, Kester AD, Saris WH. Source: The American Journal of Clinical Nutrition. 2000 March; 71(3): 752-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10702169

•

Ethical issues in emerging new treatments such as growth hormone therapy for children with Down syndrome and Prader-Willi syndrome. Author(s): Kodish E, Cuttler L. Source: Current Opinion in Pediatrics. 1996 August; 8(4): 401-5. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8954275

•

Evidence for the role of PWCR1/HBII-85 C/D box small nucleolar RNAs in PraderWilli syndrome. Author(s): Gallagher RC, Pils B, Albalwi M, Francke U. Source: American Journal of Human Genetics. 2002 September; 71(3): 669-78. Epub 2002 July 31. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12154412

•

Exclusion of maternal uniparental disomy of chromosome 14 in patients referred for Prader-Willi syndrome using a multiplex methylation polymerase chain reaction assay. Author(s): Dietz LG, Wylie AA, Rauen KA, Murphy SK, Jirtle RL, Cotter PD. Source: Journal of Medical Genetics. 2003 April; 40(4): E46. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12676919

•

Exclusion of SNRPN as a major determinant of Prader-Willi syndrome by a translocation breakpoint. Author(s): Schulze A, Hansen C, Skakkebaek NE, Brondum-Nielsen K, Ledbeter DH, Tommerup N. Source: Nature Genetics. 1996 April; 12(4): 452-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8630505

20

Prader-Willi Syndrome

•

Expression and imprinting of MAGEL2 suggest a role in Prader-willi syndrome and the homologous murine imprinting phenotype. Author(s): Lee S, Kozlov S, Hernandez L, Chamberlain SJ, Brannan CI, Stewart CL, Wevrick R. Source: Human Molecular Genetics. 2000 July 22; 9(12): 1813-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10915770

•

Failure of biliopancreatic diversion in Prader-Willi syndrome. Author(s): Grugni G, Guzzaloni G, Morabito F. Source: Obesity Surgery : the Official Journal of the American Society for Bariatric Surgery and of the Obesity Surgery Society of Australia and New Zealand. 2000 April; 10(2): 179-81; Discussion 182. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10782182

•

Failure of fluoxetine to modify the skin-picking behaviour of Prader-Willi syndrome. Author(s): Schepis C, Failla P, Siragusa M, Palazzo R, Romano C. Source: The Australasian Journal of Dermatology. 1998 February; 39(1): 57-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9529694

•

Familial interstitial 570 kbp deletion of the UBE3A gene region causing Angelman syndrome but not Prader-Willi syndrome. Author(s): Burger J, Horn D, Tonnies H, Neitzel H, Reis A. Source: American Journal of Medical Genetics. 2002 August 15; 111(3): 233-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12210318

•

Familial Prader-Willi syndrome: case report and a literature review. Author(s): McEntagart ME, Webb T, Hardy C, King MD. Source: Clinical Genetics. 2000 September; 58(3): 216-23. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11076044

•

Familial translocation t(Y;15)(q12;p11) and de novo deletion of the Prader-Willi syndrome (PWS) critical region on 15q11-q13. Author(s): Eliez S, Morris MA, Dahoun-Hadorn S, DeLozier-Blanchet CD, Gos A, Sizonenko P, Antonarakis SE. Source: American Journal of Medical Genetics. 1997 June 13; 70(3): 222-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9188657

•

Families of children with Prader-Willi syndrome: stress-support and relations to child characteristics. Author(s): Hodapp RM, Dykens EM, Masino LL. Source: Journal of Autism and Developmental Disorders. 1997 February; 27(1): 11-24. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9018579

Studies

21

•

Family studies in Prader-Willi syndrome. Author(s): Webb T, Hardy CA, Dahlitz M, Watkiss E, Clarke D. Source: Genet Couns. 1994; 5(4): 329-36. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7888134

•

Fenfluramine in Prader-Willi syndrome: a double blind, placebo controlled trial. Author(s): Selikowitz M, Sunman J, Pendergast A, Wright S. Source: Archives of Disease in Childhood. 1990 January; 65(1): 112-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2405783

•

Fertility in Prader-Willi syndrome: a case report with Angelman syndrome in the offspring. Author(s): Schulze A, Mogensen H, Hamborg-Petersen B, Graem N, Ostergaard JR, Brondum-Nielsen K. Source: Acta Paediatrica (Oslo, Norway : 1992). 2001 April; 90(4): 455-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11332942

•

Fetal phenotype of Prader-Willi syndrome due to maternal disomy for chromosome 15. Author(s): L'Hermine AC, Aboura A, Brisset S, Cuisset L, Castaigne V, Labrune P, Frydman R, Tachdjian G. Source: Prenatal Diagnosis. 2003 November; 23(11): 938-43. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=14634983

•

FISH ordering of reference markers and of the gene for the alpha 5 subunit of the gamma-aminobutyric acid receptor (GABRA5) within the Angelman and Prader-Willi syndrome chromosomal regions. Author(s): Knoll JH, Sinnett D, Wagstaff J, Glatt K, Wilcox AS, Whiting PM, Wingrove P, Sikela JM, Lalande M. Source: Human Molecular Genetics. 1993 February; 2(2): 183-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8388764

•

Five years of growth hormone treatment in children with Prader-Willi syndrome. Swedish National Growth Hormone Advisory Group. Author(s): Lindgren AC, Ritzen EM. Source: Acta Paediatrica (Oslo, Norway : 1992). Supplement. 1999 December; 88(433): 109-11. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10626558

22

Prader-Willi Syndrome

•

Fluorescence in-situ hybridisation and molecular studies used in the characterisation of a Robertsonian translocation (13q15q) in Prader-Willi syndrome. Author(s): Smith A, Robson L, Neumann A, Mulcahy M, Chabros V, Deng ZM, Woodage T, Trent RJ. Source: Clinical Genetics. 1993 January; 43(1): 5-8. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8462197

•

Focal segmental glomerulosclerosis in a patient with Prader-Willi syndrome. Author(s): Mochizuki H, Joh K, Matsuyama N, Imadachi A, Usui N, Eto Y. Source: Clinical Nephrology. 2000 March; 53(3): 212-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10749301

•

Food- and nonfood-related differential outcomes in equivalence learning by adults with Prader-Willi syndrome. Author(s): Joseph B, Overmier JB, Thompson T. Source: Am J Ment Retard. 1997 January; 101(4): 374-86. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9017084

•

Food choice in people with Prader-Willi syndrome: quantity and relative preference. Author(s): Joseph B, Egli M, Koppekin A, Thompson T. Source: Am J Ment Retard. 2002 March; 107(2): 128-35. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11853530

•

Food intake in Prader-Willi syndrome and controls with obesity after administration of a benzodiazepine receptor agonist. Author(s): Fieldstone A, Zipf WB, Sarter MF, Berntson GG. Source: Obesity Research. 1998 January; 6(1): 29-33. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9526967

•

Food preferences among individuals with and without Prader-Willi syndrome. Author(s): Glover D, Maltzman I, Williams C. Source: Am J Ment Retard. 1996 September; 101(2): 195-205. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8883673

•

Food preferences in Prader-Willi syndrome, normal weight and obese controls. Author(s): Fieldstone A, Zipf WB, Schwartz HC, Berntson GG. Source: International Journal of Obesity and Related Metabolic Disorders : Journal of the International Association for the Study of Obesity. 1997 November; 21(11): 1046-52. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9368829

Studies

23

•

Frequency of the Prader-Willi syndrome in the San-in district, Japan. Author(s): Ehara H, Ohno K, Takeshita K. Source: Brain & Development. 1995 September-October; 17(5): 324-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8579217

•

Gastric bypass in a Japanese man with Prader-Willi syndrome and morbid obesity. Author(s): Kobayashi J, Kodama M, Yamazaki K, Morikawa O, Murano S, Kawamata N, Kawamura I. Source: Obesity Surgery : the Official Journal of the American Society for Bariatric Surgery and of the Obesity Surgery Society of Australia and New Zealand. 2003 October; 13(5): 803-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=14627483

•

Genetic abnormalities in Prader-Willi syndrome and lessons from mouse models. Author(s): Nicholls RD, Ohta T, Gray TA. Source: Acta Paediatrica (Oslo, Norway : 1992). Supplement. 1999 December; 88(433): 99-104. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10626556

•

Genetic factors in human sleep disorders with special reference to Norrie disease, Prader-Willi syndrome and Moebius syndrome. Author(s): Parkes JD. Source: Journal of Sleep Research. 1999 June; 8 Suppl 1: 14-22. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10389102

•

Genetic variants of the human obesity (OB) gene in subjects with and without PraderWilli syndrome: comparison with body mass index and weight. Author(s): Butler MG, Hedges L, Hovis CL, Feurer ID. Source: Clinical Genetics. 1998 November; 54(5): 385-93. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9842990

•

Genetically determined obesity in Prader-Willi syndrome: the ethics and legality of treatment. Author(s): Holland AJ, Wong J. Source: Journal of Medical Ethics. 1999 June; 25(3): 230-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10390677

•

Genetics of childhood disorders: XV. Prader-Willi syndrome: genes, brain, and behavior. Author(s): State MW, Dykens EM. Source: Journal of the American Academy of Child and Adolescent Psychiatry. 2000 June; 39(6): 797-800. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10846317

24

Prader-Willi Syndrome

•

GH/IGF-I axis in Prader-Willi syndrome: evaluation of IGF-I levels and of the somatotroph responsiveness to various provocative stimuli. Genetic Obesity Study Group of Italian Society of Pediatric Endocrinology and Diabetology. Author(s): Corrias A, Bellone J, Beccaria L, Bosio L, Trifiro G, Livieri C, Ragusa L, Salvatoni A, Andreo M, Ciampalini P, Tonini G, Crino A. Source: J Endocrinol Invest. 2000 February; 23(2): 84-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10800760

•

Glucose homeostasis in Prader-Willi syndrome and potential implications of growth hormone therapy. Author(s): Zipf WB. Source: Acta Paediatrica (Oslo, Norway : 1992). Supplement. 1999 December; 88(433): 115-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10626560

•

Growth failure in Prader-Willi syndrome is secondary to growth hormone deficiency. Author(s): Thacker MJ, Hainline B, St Dennis-Feezle L, Johnson NB, Pescovitz OH. Source: Hormone Research. 1998; 49(5): 216-20. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9568805

•

Growth hormone improves body composition, fat utilization, physical strength and agility, and growth in Prader-Willi syndrome: A controlled study. Author(s): Carrel AL, Myers SE, Whitman BY, Allen DB. Source: The Journal of Pediatrics. 1999 February; 134(2): 215-21. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9931532

•

Growth hormone normalises height, prediction of final height and hand length in children with Prader-Willi syndrome after 4 years of therapy. Author(s): Eiholzer U, l'Allemand D. Source: Hormone Research. 2000; 53(4): 185-92. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11044802

•

Growth hormone secretion in Prader-Willi syndrome. Author(s): Grosso S, Cioni M, Buoni S, Peruzzi L, Pucci L, Berardi R. Source: J Endocrinol Invest. 1998 July-August; 21(7): 418-22. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9766254

•

Growth hormone therapy in Prader-Willi syndrome. Author(s): Davies PS. Source: International Journal of Obesity and Related Metabolic Disorders : Journal of the International Association for the Study of Obesity. 2001 January; 25(1): 2-7. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11244451

Studies

25

•

Growth hormone therapy in the Prader-Willi syndrome. Author(s): Paterson WF, Donaldson MD. Source: Archives of Disease in Childhood. 2003 April; 88(4): 283-5. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12651746

•

Growth hormone therapy in young children with Down syndrome and a clinical comparison of Down and Prader-Willi syndromes. Author(s): Anneren G, Tuvemo T, Gustafsson J. Source: Growth Hormone & Igf Research : Official Journal of the Growth Hormone Research Society and the International Igf Research Society. 2000 April; 10 Suppl B: S8791. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10984260

•

Growth hormone treatment improves body composition in adults with Prader-Willi syndrome. Author(s): Hoybye C, Hilding A, Jacobsson H, Thoren M. Source: Clinical Endocrinology. 2003 May; 58(5): 653-61. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12699450

•

Growth hormone treatment increases CO(2) response, ventilation and central inspiratory drive in children with Prader-Willi syndrome. Author(s): Lindgren AC, Hellstrom LG, Ritzen EM, Milerad J. Source: European Journal of Pediatrics. 1999 November; 158(11): 936-40. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10541953

•

Growth hormone treatment of children with Prader-Willi syndrome affects linear growth and body composition favourably. Author(s): Lindgren AC, Hagenas L, Muller J, Blichfeldt S, Rosenborg M, Brismar T, Ritzen EM. Source: Acta Paediatrica (Oslo, Norway : 1992). 1998 January; 87(1): 28-31. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9510443

•

Growth hormone treatment of children with Prader-Willi syndrome: effects on glucose and insulin homeostasis. Swedish National Growth Hormone Advisory Group. Author(s): Lindgren AC, Hagenas L, Ritzen EM. Source: Hormone Research. 1999; 51(4): 157-61. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10474015

26

Prader-Willi Syndrome

•

Growth hormone treatment of patients with Prader-Willi syndrome. Swedish Growth Hormone Advisory Group. Author(s): Ritzen EM, Lindgren AC, Hagenas L, Marcus C, Muller J, Blichfeldt S. Source: J Pediatr Endocrinol Metab. 1999 April; 12 Suppl 1: 345-9. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10698600

•

Hair minerals and diet of Prader-Willi syndrome youth. Author(s): Marlowe M, Medeiros DM, Errera J, Medeiros LC. Source: Journal of Autism and Developmental Disorders. 1987 September; 17(3): 365-74. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3654488

•

Hand and foot length in Prader-Willi syndrome. Author(s): Hudgins L, Cassidy SB. Source: American Journal of Medical Genetics. 1991 October 1; 41(1): 5-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1951464

•

High circulating ghrelin: a potential cause for hyperphagia and obesity in PraderWilli syndrome. Author(s): DelParigi A, Tschop M, Heiman ML, Salbe AD, Vozarova B, Sell SM, Bunt JC, Tataranni PA. Source: The Journal of Clinical Endocrinology and Metabolism. 2002 December; 87(12): 5461-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12466337

•

High-resolution cytogenetic studies in patients with Prader-Willi syndrome. Author(s): Takano T, Nakagome Y, Nagafuchi S, Tanaka F, Nakamura Y, Nagano T, Tanae A, Hibi I. Source: Clinical Genetics. 1986 October; 30(4): 241-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3791673

•

Hormonal change in an adult with Prader-Willi syndrome: report of a case. Author(s): Shiah CJ, Lee LS, Hwang JY, Liao ST, Hsu CH, Lin WY. Source: J Formos Med Assoc. 1994 April; 93(4): 324-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7914775

•

Hypercapnic arousal responses in Prader-Willi syndrome. Author(s): Livingston FR, Arens R, Bailey SL, Keens TG, Ward SL. Source: Chest. 1995 December; 108(6): 1627-31. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7497773

Studies

27

•

Hyperlexia in Prader-Willi syndrome. Author(s): Burd L, Kerbeshian J. Source: Lancet. 1989 October 21; 2(8669): 983-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2571894

•

Hyperlipidemia, insulin-dependent diabetes mellitus, and rapidly progressive diabetic retinopathy and nephropathy in Prader-Willi syndrome with del(15)(q11.2q13). Author(s): Bassali R, Hoffman WH, Chen H, Tuck-Muller CM. Source: American Journal of Medical Genetics. 1997 August 22; 71(3): 267-70. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9268093

•

Hyperphagia and self-mutilation in Prader-Willi syndrome: psychopharmacological issues. Author(s): Yaryura-Tobias JA, Grunes MS, Bayles ME, Neziroglu F. Source: Eat Weight Disord. 1998 December; 3(4): 163-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10728166

•

Hypogonadism and endocrine metabolic disorders in Prader-Willi syndrome. Author(s): Muller J. Source: Acta Paediatrica (Oslo, Norway : 1992). Supplement. 1997 November; 423: 58-9. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9401541

•

Hypogonadism and pubertal development in Prader-Willi syndrome. Author(s): Crino A, Schiaffini R, Ciampalini P, Spera S, Beccaria L, Benzi F, Bosio L, Corrias A, Gargantini L, Salvatoni A, Tonini G, Trifiro G, Livieri C; Genetic Obesity Study Group of Italian Society of Pediatric endocrinology and diabetology (SIEDP). Source: European Journal of Pediatrics. 2003 May; 162(5): 327-33. Epub 2003 February 27. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12692714

•

Hypogonadism in Prader-Willi syndrome. Author(s): Jaskulsky SR, Stone NN. Source: Urology. 1987 February; 29(2): 207-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3811099

•

Hypogonadism in Prader-Willi syndrome. Author(s): Wannarachue N, Ruvalcaba RH. Source: Am J Ment Defic. 1975 March; 79(5): 592-603. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=164772

28

Prader-Willi Syndrome

•

Hypopigmentation in the Prader-Willi syndrome correlates with P gene deletion but not with haplotype of the hemizygous P allele. Author(s): Spritz RA, Bailin T, Nicholls RD, Lee ST, Park SK, Mascari MJ, Butler MG. Source: American Journal of Medical Genetics. 1997 July 11; 71(1): 57-62. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9215770

•

Hypopigmentation in the Prader-Willi syndrome. Author(s): Wiesner GL, Bendel CM, Olds DP, White JG, Arthur DC, Ball DW, King RA. Source: American Journal of Human Genetics. 1987 May; 40(5): 431-42. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3578281

•

Hypothalamic growth hormone-releasing hormone (GHRH) cell number is increased in human illness, but is not reduced in Prader-Willi syndrome or obesity. Author(s): Goldstone AP, Unmehopa UA, Swaab DF. Source: Clinical Endocrinology. 2003 June; 58(6): 743-55. Erratum In: Clin Endocrinol (Oxf). 2003 August; 59(2): 266. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12780752

•

Hypothalamic NPY and agouti-related protein are increased in human illness but not in Prader-Willi syndrome and other obese subjects. Author(s): Goldstone AP, Unmehopa UA, Bloom SR, Swaab DF. Source: The Journal of Clinical Endocrinology and Metabolism. 2002 February; 87(2): 927-37. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11836343

•

Hypothalamic-pituitary-gonadal function in two siblings with Prader-Willi syndrome. Author(s): Bolanos F, Lopez-Amor E, Vasquez G, Lisker R, Morato T. Source: Revista De Investigacion Clinica; Organo Del Hospital De Enfermedades De La Nutricion. 1974 January-March; 26(1): 53-62. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4616300

•

Hypothermia induced by risperidone and olanzapine in a patient with Prader-Willi syndrome. Author(s): Phan TG, Yu RY, Hersch MI. Source: The Medical Journal of Australia. 1998 August 17; 169(4): 230-1. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9734590

•

Hypoxic and hypercapnic ventilatory responses in Prader-Willi syndrome. Author(s): Arens R, Gozal D, Omlin KJ, Livingston FR, Liu J, Keens TG, Ward SL. Source: Journal of Applied Physiology (Bethesda, Md. : 1985). 1994 November; 77(5): 2224-30. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7868438

Studies

29

•

Identification of a novel paternally expressed gene in the Prader-Willi syndrome region. Author(s): Wevrick R, Kerns JA, Francke U. Source: Human Molecular Genetics. 1994 October; 3(10): 1877-82. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7849716

•

Identification of a novel paternally expressed transcript adjacent to snRPN in the Prader-Willi syndrome critical region. Author(s): Ning Y, Roschke A, Christian SL, Lesser J, Sutcliffe JS, Ledbetter DH. Source: Genome Research. 1996 August; 6(8): 742-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8858349

•

Identification of a testis-specific gene (C15orf2) in the Prader-Willi syndrome region on chromosome 15. Author(s): Farber C, Gross S, Neesen J, Buiting K, Horsthemke B. Source: Genomics. 2000 April 15; 65(2): 174-83. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10783265

•

Identification of mosaicism in Prader-Willi syndrome using fluorescent in situ hybridization. Author(s): Mowery-Rushton PA, Hanchett JM, Zipf WB, Rogan PK, Surti U. Source: American Journal of Medical Genetics. 1996 December 30; 66(4): 403-12. Retraction In: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8989457

•

Identification of novel imprinted transcripts in the Prader-Willi syndrome and Angelman syndrome deletion region: further evidence for regional imprinting control. Author(s): Lee S, Wevrick R. Source: American Journal of Human Genetics. 2000 March; 66(3): 848-58. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10712201

•

Impaired peripheral somatosensory function in children with Prader-Willi syndrome. Author(s): Brandt BR, Rosen I. Source: Neuropediatrics. 1998 June; 29(3): 124-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9706621

•

Impairment of GH responsiveness to GH-releasing hexapeptide (GHRP-6) in PraderWilli syndrome. Author(s): Grugni G, Guzzaloni G, Morabito F. Source: J Endocrinol Invest. 2001 May; 24(5): 340-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11407654

30

Prader-Willi Syndrome

•

Imprinting of a RING zinc-finger encoding gene in the mouse chromosome region homologous to the Prader-Willi syndrome genetic region. Author(s): Jong MT, Carey AH, Caldwell KA, Lau MH, Handel MA, Driscoll DJ, Stewart CL, Rinchik EM, Nicholls RD. Source: Human Molecular Genetics. 1999 May; 8(5): 795-803. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10196368

•

Imprinting-mutation mechanisms in Prader-Willi syndrome. Author(s): Ohta T, Gray TA, Rogan PK, Buiting K, Gabriel JM, Saitoh S, Muralidhar B, Bilienska B, Krajewska-Walasek M, Driscoll DJ, Horsthemke B, Butler MG, Nicholls RD. Source: American Journal of Human Genetics. 1999 February; 64(2): 397-413. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9973278

•

Improving body composition and physical activity in Prader-Willi Syndrome. Author(s): Eiholzer U, Nordmann Y, l'Allemand D, Schlumpf M, Schmid S, KromeyerHauschild K. Source: The Journal of Pediatrics. 2003 January; 142(1): 73-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12520259

•

In our parents' shadow. Prader-Willi syndrome. Author(s): Gelbart M. Source: Nurs Times. 1999 January 13-19; 95(2): 36. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10067596

•

Increased adrenal androgen levels in patients with Prader-Willi syndrome are associated with insulin, IGF-I, and leptin, but not with measures of obesity. Author(s): L'Allemand D, Eiholzer U, Rousson V, Girard J, Blum W, Torresani T, Gasser T. Source: Hormone Research. 2002; 58(5): 215-22. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12401940

•

Increased leptin messenger RNA and serum leptin levels in children with PraderWilli syndrome and nonsyndromal obesity. Author(s): Lindgren AC, Marcus C, Skwirut C, Elimam A, Hagenas L, Schalling M, Anvret M, Lonnqvist F. Source: Pediatric Research. 1997 November; 42(5): 593-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9357929

•

Inherited duplication of Xq27.2-->qter: phenocopy of infantile Prader-Willi syndrome. Author(s): Lammer EJ, Punglia DR, Fuchs AE, Rowe AG, Cotter PD. Source: Clinical Dysmorphology. 2001 April; 10(2): 141-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11310995

Studies

31

•

Intellectual characteristics of Prader-Willi syndrome: comparison of genetic subtypes. Author(s): Roof E, Stone W, MacLean W, Feurer ID, Thompson T, Butler MG. Source: Journal of Intellectual Disability Research : Jidr. 2000 February; 44 ( Pt 1): 25-30. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10711647

•

Inter- and intrachromosomal rearrangements are both involved in the origin of 15q11q13 deletions in Prader-Willi syndrome. Author(s): Carrozzo R, Rossi E, Christian SL, Kittikamron K, Livieri C, Corrias A, Pucci L, Fois A, Simi P, Bosio L, Beccaria L, Zuffardi O, Ledbetter DH. Source: American Journal of Human Genetics. 1997 July; 61(1): 228-31. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9246004

•

Is excessive daytime sleepiness characteristic of Prader-Willi syndrome? The effects of weight change. Author(s): Harris JC, Allen RP. Source: Archives of Pediatrics & Adolescent Medicine. 1996 December; 150(12): 1288-93. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8954002

•

Is monoamine oxidase activity elevated in Prader-Willi syndrome? Author(s): Akefeldt A, Mansson JE. Source: European Child & Adolescent Psychiatry. 1998 September; 7(3): 163-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9826303

•

Is there growth hormone deficiency in prader-willi Syndrome? Six arguments to support the presence of hypothalamic growth hormone deficiency in Prader-Willi syndrome. Author(s): Eiholzer U, Bachmann S, l'Allemand D. Source: Hormone Research. 2000; 53 Suppl 3: 44-52. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10971104

•

Isochromosome 15q of maternal origin in two Prader-Willi syndrome patients previously diagnosed erroneously as cytogenetic deletions. Author(s): Saitoh S, Mutirangura A, Kuwano A, Ledbetter DH, Niikawa N. Source: American Journal of Medical Genetics. 1994 March 1; 50(1): 64-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7909198

•

Jane: a victim of Prader-Willi syndrome and the system. Author(s): Aguilar GD. Source: Social Work. 1990 May; 35(3): 279-82. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2360065

32

Prader-Willi Syndrome

•

Kinetic form discrimination in Prader-Willi syndrome. Author(s): Fox R, Yang GS, Feurer ID, Butler MG, Thompson T. Source: Journal of Intellectual Disability Research : Jidr. 2001 August; 45(Pt 4): 317-25. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11489053

•

Kleine-Levin syndrome in a boy with Prader-Willi syndrome. Author(s): Gau SF, Soong WT, Liu HM, Hou JW, Tsai WY, Chiu YN, Yeh YC, Wang PJ, Wang TR. Source: Sleep. 1996 January; 19(1): 13-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8650457

•

Klinefelter and trisomy X syndromes in patients with Prader-Willi syndrome and uniparental maternal disomy of chromosome 15--a coincidence? Author(s): Butler MG, Hedges LK, Rogan PK, Seip JR, Cassidy SB, Moeschler JB. Source: American Journal of Medical Genetics. 1997 October 3; 72(1): 111-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9295086

•

Large-scale evaluation of imprinting status in the Prader-Willi syndrome region: an imprinted direct repeat cluster resembling small nucleolar RNA genes. Author(s): Meguro M, Mitsuya K, Nomura N, Kohda M, Kashiwagi A, Nishigaki R, Yoshioka H, Nakao M, Oishi M, Oshimura M. Source: Human Molecular Genetics. 2001 February 15; 10(4): 383-94. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11157801

•

Laurence-Moon-Biedl syndrome (?) and Prader-Willi syndrome (?) in a single family. Author(s): Endo M, Tasaka Y, Matsuura N, Matsuda I. Source: European Journal of Pediatrics. 1976 November 3; 123(4): 269-76. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=991874

•

Leptin concentrations in Prader-Willi syndrome before and after growth hormone replacement. Author(s): Myers SE, Davis A, Whitman BY, Santiago JV, Landt M. Source: Clinical Endocrinology. 2000 January; 52(1): 101-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10651760

•

Letter: Pathogenesis of obesity in Prader-Willi syndrome. Author(s): Mace J, Gotlin RW, Dubois R. Source: The Journal of Pediatrics. 1974 June; 84(6): 927-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4826636

Studies

33

•

Leukaemia and the Prader-Willi syndrome. Author(s): Hall BD. Source: Lancet. 1985 January 5; 1(8419): 46. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2856967

•

Linear growth response to exogenous growth hormone in Prader-Willi syndrome. Author(s): Lee PD, Wilson DM, Rountree L, Hintz RL, Rosenfeld RG. Source: American Journal of Medical Genetics. 1987 December; 28(4): 865-71. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3688024

•

Linkage analysis between manic-depressive illness and the region on chromosome 15q involved in Prader-Willi syndrome, including two GABAA receptor subtype genes. Author(s): Ewald H, Mors O, Flint T, Kruse TA. Source: Human Heredity. 1994 September-October; 44(5): 287-94. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7927358

•

Longitudinal assessment of hypercapnic ventilatory drive after tracheotomy in a patient with the Prader-Willi syndrome. Author(s): Gozal D, Torres JE, Menendez AA. Source: The European Respiratory Journal : Official Journal of the European Society for Clinical Respiratory Physiology. 1996 July; 9(7): 1565-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8836675

•

Maladaptive behavior differences in Prader-Willi syndrome due to paternal deletion versus maternal uniparental disomy. Author(s): Dykens EM, Cassidy SB, King BH. Source: Am J Ment Retard. 1999 January; 104(1): 67-77. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9972835

•

Maladaptive behavior in children with Prader-Willi syndrome, Down syndrome, and nonspecific mental retardation. Author(s): Dykens EM, Kasari C. Source: Am J Ment Retard. 1997 November; 102(3): 228-37. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9394132

•

Maladaptive behaviour in Prader-Willi syndrome in adult life. Author(s): Clarke DJ, Boer H, Chung MC, Sturmey P, Webb T. Source: Journal of Intellectual Disability Research : Jidr. 1996 April; 40 ( Pt 2): 159-65. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8731473

34

Prader-Willi Syndrome

•

Maternal disomy and Prader-Willi syndrome consistent with gamete complementation in a case of familial translocation (3;15) (p25;q11.2). Author(s): Park JP, Moeschler JB, Hani VH, Hawk AB, Belloni DR, Noll WW, Mohandas TK. Source: American Journal of Medical Genetics. 1998 June 30; 78(2): 134-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9674903

•

Metabolic profile and body composition in adults with Prader-Willi syndrome and severe obesity. Author(s): Hoybye C, Hilding A, Jacobsson H, Thoren M. Source: The Journal of Clinical Endocrinology and Metabolism. 2002 August; 87(8): 3590-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12161480

•

Metformin therapy for diabetes in Prader-Willi syndrome. Author(s): Chan NN, Feher MD, Bridges NA. Source: Journal of the Royal Society of Medicine. 1998 November; 91(11): 598. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10325882

•

Methylation PCR analysis of Prader-Willi syndrome, Angelman syndrome, and control subjects. Author(s): Muralidhar B, Butler MG. Source: American Journal of Medical Genetics. 1998 November 16; 80(3): 263-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9843050

•

Microarray analysis of gene/transcript expression in Prader-Willi syndrome: deletion versus UPD. Author(s): Bittel DC, Kibiryeva N, Talebizadeh Z, Butler MG. Source: Journal of Medical Genetics. 2003 August; 40(8): 568-74. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12920063

•

Molecular and clinical studies of Polish patients with Prader-Willi syndrome. Author(s): Szpecht-Potocka A, Obersztyn E, Karwacki M, Bocian E, Bal J, Mazurczak T. Source: Acta Genet Med Gemellol (Roma). 1996; 45(1-2): 273-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8872045

•

Molecular characterization of a unique de novo 15q deletion associated with PraderWilli syndrome and central visual impairment. Author(s): Windpassinger C, Petek E, Wagner K, Langmann A, Buiting K, Kroisel PM. Source: Clinical Genetics. 2003 April; 63(4): 297-302. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12702163

Studies

35

•

Molecular diagnosis of Prader-Willi syndrome. Author(s): Pangkanon S. Source: J Med Assoc Thai. 2003 August; 86 Suppl 3: S510-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=14700141

•

Molecular diagnosis of Prader-Willi syndrome: comparison of cytogenetic and molecular genetic data including parent of origin dependent methylation DNA patterns. Author(s): Butler MG. Source: American Journal of Medical Genetics. 1996 January 11; 61(2): 188-90. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8669451

•

Molecular genetic analysis of the Prader-Willi syndrome by using fluorescent multiplex PCR of the dinucleotide repeats on chromosome 15q11-q13. Author(s): Lee MJ, Nishio H, Nagai T, Okamoto N, Yuki T, Sumino K. Source: Clinica Chimica Acta; International Journal of Clinical Chemistry. 1998 March 9; 271(1): 89-96. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9564560

•

Monopharmacologic general anaesthesia with sevoflurane in paediatric patient with Prader-Willi syndrome. Author(s): Rinaldi S, Rizzo L, Di Filippo A, Secchi S, Paternoster G, La Torre MS, Pascente C, Stanzani MR. Source: Minerva Anestesiol. 2002 October; 68(10): 783-90. English, Italian. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12496725

•

Mosaicism in Prader-Willi syndrome. Author(s): Nicholls RD. Source: American Journal of Medical Genetics. 2000 January 17; 90(2): 175-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10607961

•

Mosaicism in Prader-Willi syndrome: detection using fluorescent in situ hybridization. Author(s): Golden WL, Sudduth KW, Burnett SH, Kelly TE. Source: American Journal of Medical Genetics. 1999 August 6; 85(4): 424-5. Erratum In: Am J Med Genet 1999 November 19; 87(2): 200. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10398272

•

Multi-modal P3 deflation of event-related brain activity in Prader-Willi syndrome. Author(s): Stauder JE, Brinkman MJ, Curfs LM. Source: Neuroscience Letters. 2002 July 19; 327(2): 99-102. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12098645

36

Prader-Willi Syndrome

•

Multiple endocrine neoplasia type 1 concomitant with Prader-Willi syndrome: case report and genetic diagnosis. Author(s): Nakajima K, Sakurai A, Kubota T, Katai M, Mori J, Aizawa T, Fukushima Y, Hashizume K. Source: The American Journal of the Medical Sciences. 1999 May; 317(5): 346-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10334123

•

Multiple imprinted genes associated with Prader-Willi syndrome and location of an imprinting control element. Author(s): Nicholls RD, Jong MT, Glenn CC, Gabriel J, Rogan PK, Driscoll DJ, Saitoh S. Source: Acta Genet Med Gemellol (Roma). 1996; 45(1-2): 87-9. Review. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8872016

•

Myeloid leukemia in Prader-Willi syndrome. Author(s): Davies HD, Leusink GL, McConnell A, Deyell M, Cassidy SB, Fick GH, Coppes MJ. Source: The Journal of Pediatrics. 2003 February; 142(2): 174-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12584540

•

Naloxone and Prader-Willi syndrome. Author(s): McCloy RF, McCloy J. Source: Lancet. 1980 June 28; 1(8183): 1418. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=6104204

•

Naloxone and Prader-Willi syndrome. Author(s): Sullivan SN. Source: Lancet. 1980 May 24; 1(8178): 1140. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=6103478

•

Naltrexone and fluoxetine in Prader-Willi syndrome. Author(s): Benjamin E, Buot-Smith T. Source: Journal of the American Academy of Child and Adolescent Psychiatry. 1993 July; 32(4): 870-3. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8340312

•

Neonatal diagnosis of Prader-Willi syndrome and its implications. Author(s): Greenberg F, Elder FF, Ledbetter DH. Source: American Journal of Medical Genetics. 1987 December; 28(4): 845-56. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3688023

Studies

37

•

Neonatal hypotonia: don't forget the Prader-Willi syndrome. Author(s): Trifiro G, Livieri C, Bosio L, Gargantini L, Corrias A, Pozzan G, Crino A; Genetic Obesity Study Group of the Italian Society of Paediatric Endocrinology and Diabetology. Source: Acta Paediatrica (Oslo, Norway : 1992). 2003 September; 92(9): 1085-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=14599075

•

Neonatal presentation of Prader-Willi syndrome. Author(s): Stephenson JB. Source: Am J Dis Child. 1992 February; 146(2): 151-2. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1733143

•

Neonatal respiratory depression and delay in diagnosis in Prader-Willi syndrome. Author(s): Wharton RH, Bresnan MJ. Source: Developmental Medicine and Child Neurology. 1989 April; 31(2): 231-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2737375

•

Neonatal subdural and extradural haemorrhage in Prader-Willi syndrome. Author(s): Klinge L, Scott RC, de Sousa C. Source: Neuropediatrics. 2001 August; 32(4): 221-2. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11571706

•

Neuroendocrine protein 7B2 in Prader-Willi syndrome. Author(s): Graham DA, Abbott GD, Suzuki Y, Suzuki H, Shimoda S. Source: Aust N Z J Med. 1992 October; 22(5): 455-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1445035

•

Neuronally-expressed necdin gene: an imprinted candidate gene in Prader-Willi syndrome. Author(s): Sutcliffe JS, Han M, Christian SL, Ledbetter DH. Source: Lancet. 1997 November 22; 350(9090): 1520-1. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9388406

•

Non-insulin dependent diabetes mellitus in a prepubertal child with Prader-Willi syndrome. Author(s): Sills IN, Rapaport R. Source: J Pediatr Endocrinol Metab. 1998 March-April; 11(2): 281-2. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9642645

38

Prader-Willi Syndrome

•

Nonreciprocal and jumping translocations of 15q1----qter in Prader-Willi syndrome. Author(s): Rivera H, Zuffardi O, Gargantini L. Source: American Journal of Medical Genetics. 1990 November; 37(3): 311-7. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2260556

•

Non-reciprocal translocation (5;15), isodicentric (15) and Prader-Willi syndrome. Author(s): Murdock RL, Wurster-Hill DH. Source: American Journal of Medical Genetics. 1986 September; 25(1): 61-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3799724

•

Normal size of hands and feet in Prader-Willi syndrome. Author(s): Baroncini A, Forabosco A. Source: Clinical Genetics. 1990 April; 37(4): 283-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2350898

•

Nursing interventions for the child with Prader-Willi syndrome. Author(s): Hansen BD. Source: Journal of Pediatric Nursing. 1988 December; 3(6): 399-404. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3204490

•

Obesity surgery in a patient with the Prader-Willi syndrome. Author(s): Touquet VL, Ward MW, Clark CG. Source: The British Journal of Surgery. 1983 March; 70(3): 180-1. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=6831160

•

Obsessions and compulsions in Prader-Willi syndrome. Author(s): Dykens EM, Leckman JF, Cassidy SB. Source: Journal of Child Psychology and Psychiatry, and Allied Disciplines. 1996 November; 37(8): 995-1002. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9119946

•

Obstetric aspects of the Prader-Willi syndrome. Author(s): Fong BF, De Vries JI. Source: Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology. 2003 April; 21(4): 389-92. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12704750

•

Occupational hydrocarbon exposure among fathers of Prader-Willi syndrome patients with and without deletions of 15q. Author(s): Cassidy SB, Gainey AJ, Butler MG. Source: American Journal of Human Genetics. 1989 June; 44(6): 806-10. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2729276

Studies

39

•

Ocular findings and visual evoked potential response in the Prader-Willi syndrome. Author(s): Roy MS, Milot JA, Polomeno RC, Barsoum-Homsy M. Source: Can J Ophthalmol. 1992 October; 27(6): 307-12. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1451020

•

Ocular findings in a patient with Prader-Willi syndrome. Author(s): Wang XC, Norose K, Kiyosawa K, Segawa K. Source: Japanese Journal of Ophthalmology. 1995; 39(3): 284-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8577080

•

Oculocutaneous albinoidism as a manifestation of reduced neural crest derivatives in the Prader-Willi syndrome. Author(s): Hittner HM, King RA, Riccardi VM, Ledbetter DH, Borda RP, Ferrell RE, Kretzer FL. Source: American Journal of Ophthalmology. 1982 September; 94(3): 328-37. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=6812426

•

On the management of the Prader-Willi syndrome. Author(s): Holm VA, Pipes PL. Source: The Journal of Pediatrics. 1977 August; 91(2): 355-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=874708

•

One-year results of growth hormone treatment of short stature in Prader-Willi syndrome. Author(s): Hauffa BP. Source: Acta Paediatrica (Oslo, Norway : 1992). Supplement. 1997 November; 423: 63-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9440907

•

Onset of menses in two adult patients with Prader-Willi syndrome treated with fluoxetine. Author(s): Warnock JK, Clayton AH, Shaw HA, O'Donnell T. Source: Psychopharmacology Bulletin. 1995; 31(2): 239-42. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7491374

•

Ophthalmologic features of Prader-Willi syndrome. Author(s): Hered RW, Rogers S, Zang YF, Biglan AW. Source: Journal of Pediatric Ophthalmology and Strabismus. 1988 May-June; 25(3): 14550. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3397859

40

Prader-Willi Syndrome

•

Outcome of biliopancreatic diversion in subjects with Prader-Willi Syndrome. Author(s): Marinari GM, Camerini G, Novelli GB, Papadia F, Murelli F, Marini P, Adami GF, Scopinaro N. Source: Obesity Surgery : the Official Journal of the American Society for Bariatric Surgery and of the Obesity Surgery Society of Australia and New Zealand. 2001 August; 11(4): 491-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11501362

•

Out-patient dietary management in the Prader-Willi syndrome. Author(s): Coplin SS, Hine J, Gormican A. Source: Journal of the American Dietetic Association. 1976 April; 68(4): 330-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1254876

•

Oxandrolone therapy in six boys with the Prader-Willi syndrome. Author(s): Holm VA, Nugent JK, Ruvalcaba RH, Costeff H. Source: The Journal of Pediatrics. 1989 February; 114(2): 325-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2915295

•

Paternalism and egregious harm: Prader-Willi Syndrome and the importance of care. Author(s): Groarke L. Source: Public Aff Q. 2000 July; 16(3): 203-30. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12737184

•

Photo quiz. Obesity and daytime sleepiness. Prader-Willi syndrome. Author(s): Baumgart DC, Gerl H. Source: American Family Physician. 2003 July 1; 68(1): 151-2. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12887122

•

Prader-Willi syndrome and a deletion/duplication within the 15q11-q13 region. Author(s): Butler MG, Bittel D, Talebizadeh Z. Source: Journal of Medical Genetics. 2002 March; 39(3): 202-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11897825

•

Prader-Willi syndrome and the evolution of human childhood. Author(s): Haig D, Wharton R. Source: American Journal of Human Biology : the Official Journal of the Human Biology Council. 2003 May-June; 15(3): 320-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12704708

Studies

41

•

Prader-Willi syndrome due to 15q11-q13 deletion in a girl with an inherited (13;14) Robertsonian translocation. Author(s): Alliende A, Curotto B, Santa Maria L, Cortes F, Aracena M. Source: American Journal of Medical Genetics. 2002 December 1; 113(3): 307-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12439903

•

Prader-Willi syndrome, compulsive and ritualistic behaviours: the first populationbased survey. Author(s): Clarke DJ, Boer H, Whittington J, Holland A, Butler J, Webb T. Source: The British Journal of Psychiatry; the Journal of Mental Science. 2002 April; 180: 358-62. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11925360

•

Prader-Willi syndrome: clinical picture, psychosocial support and current management. Author(s): Wigren M, Hansen S. Source: Child: Care, Health and Development. 2003 November; 29(6): 449-56. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=14616902

•

Prader-Willi syndrome: new insights in the behavioural and psychiatric spectrum. Author(s): Descheemaeker MJ, Vogels A, Govers V, Borghgraef M, Willekens D, Swillen A, Verhoeven W, Fryns JP. Source: Journal of Intellectual Disability Research : Jidr. 2002 January; 46(Pt 1): 41-50. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11851855

•

Prader-Willi syndrome: the psychopathological phenotype in uniparental disomy. Author(s): Verhoeven WM, Tuinier S, Curfs LM. Source: Journal of Medical Genetics. 2003 October; 40(10): E112. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=14569135

•

Prevalence of, and risk factors for, physical ill-health in people with Prader-Willi syndrome: a population-based study. Author(s): Butler JV, Whittington JE, Holland AJ, Boer H, Clarke D, Webb T. Source: Developmental Medicine and Child Neurology. 2002 April; 44(4): 248-55. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11995893

•

Psychiatric disorders in Prader-Willi syndrome: epidemiology and management. Author(s): Dykens E, Shah B. Source: Cns Drugs. 2003; 17(3): 167-78. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12617696

42

Prader-Willi Syndrome

•

Quantitative calibration and use of DNA probes for investigating chromosome abnormalities in the Prader-Willi syndrome. Author(s): Tantravahi U, Nicholls RD, Stroh H, Ringer S, Neve RL, Kaplan L, Wharton R, Wurster-Hill D, Graham JM Jr, Cantu ES, et al. Source: American Journal of Medical Genetics. 1989 May; 33(1): 78-87. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2750788

•

Referral diagnosis of Prader-Willi syndrome and Angelman syndrome based on methylation-specific polymerase chain reaction. Author(s): Teng YN, Tsai WH, Wu CJ, Lin SJ, Chen YJ, Kuo PL. Source: J Formos Med Assoc. 2002 July; 101(7): 488-94. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12353341

•

Relationship between clinical and genetic diagnosis of Prader-Willi syndrome. Author(s): Whittington J, Holland A, Webb T, Butler J, Clarke D, Boer H. Source: Journal of Medical Genetics. 2002 December; 39(12): 926-32. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12471208

•

Relationship between hypersomnia and respiratory disorder during sleep in PraderWilli syndrome. Author(s): Hiroe Y, Inoue Y, Higami S, Suto Y, Kawahara R. Source: Psychiatry and Clinical Neurosciences. 2000 June; 54(3): 323-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11186096

•

Relaxation of imprinting in Prader-Willi syndrome. Author(s): Rogan PK, Seip JR, White LM, Wenger SL, Steele MW, Sperling MA, Menon R, Knoll JH. Source: Human Genetics. 1998 December; 103(6): 694-701. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9921905

•

Resting metabolic rate, plasma leptin concentrations, leptin receptor expression, and adipose tissue measured by whole-body magnetic resonance imaging in women with Prader-Willi syndrome. Author(s): Goldstone AP, Brynes AE, Thomas EL, Bell JD, Frost G, Holland A, Ghatei MA, Bloom SR. Source: The American Journal of Clinical Nutrition. 2002 March; 75(3): 468-75. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11864851

•

Retrospective diagnosis of trisomy 15 in formalin-fixed, paraffin-embedded placental tissue in a newborn girl with Prader-Willi syndrome. Author(s): Walczak C, Enders H, Grissinger K, Dufke A. Source: Prenatal Diagnosis. 2000 November; 20(11): 914-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11113895

Studies

43

•

Retrotransposed genes such as Frat3 in the mouse Chromosome 7C Prader-Willi syndrome region acquire the imprinted status of their insertion site. Author(s): Chai JH, Locke DP, Ohta T, Greally JM, Nicholls RD. Source: Mammalian Genome : Official Journal of the International Mammalian Genome Society. 2001 November; 12(11): 813-21. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11845283

•

Risperidone in Prader-Willi syndrome. Author(s): Durst R, Rubin-Jabotinsky K, Raskin S, Katz G, Zislin J. Source: Journal of the American Academy of Child and Adolescent Psychiatry. 2000 May; 39(5): 545-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10802969

•

Risperidone in treating behavioural disturbances of Prader-Willi syndrome. Author(s): Durst R, Rubin-Jabotinsky K, Raskin S, Katz G, Zislin J. Source: Acta Psychiatrica Scandinavica. 2000 December; 102(6): 461-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11142437

•

Rituals and compulsivity in Prader-Willi syndrome: profile and stability. Author(s): Wigren M, Hansen S. Source: Journal of Intellectual Disability Research : Jidr. 2003 September; 47(Pt 6): 428-38. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12919193

•

Serum ghrelin levels are inversely correlated with body mass index, age, and insulin concentrations in normal children and are markedly increased in Prader-Willi syndrome. Author(s): Haqq AM, Farooqi IS, O'Rahilly S, Stadler DD, Rosenfeld RG, Pratt KL, LaFranchi SH, Purnell JQ. Source: The Journal of Clinical Endocrinology and Metabolism. 2003 January; 88(1): 1748. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12519848

•

Sleep and breathing in Prader-Willi syndrome. Author(s): Nixon GM, Brouillette RT. Source: Pediatric Pulmonology. 2002 September; 34(3): 209-17. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12203850

•

Spontaneous growth in German children and adolescents with genetically confirmed Prader-Willi syndrome. Author(s): Hauffa BP, Schlippe G, Roos M, Gillessen-Kaesbach G, Gasser T. Source: Acta Paediatrica (Oslo, Norway : 1992). 2000 November; 89(11): 1302-11. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11106040

44

Prader-Willi Syndrome

•

Standard growth curves for Japanese patients with Prader-Willi syndrome. Author(s): Nagai T, Matsuo N, Kayanuma Y, Tonoki H, Fukushima Y, Ohashi H, Murai T, Hasegawa T, Kuroki Y, Niikawa N. Source: American Journal of Medical Genetics. 2000 November 13; 95(2): 130-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11078562

•

Submicroscopic deletion in cousins with Prader-Willi syndrome causes a grandmatrilineal inheritance pattern: effects of imprinting. Author(s): Ming JE, Blagowidow N, Knoll JH, Rollings L, Fortina P, McDonald-McGinn DM, Spinner NB, Zackai EH. Source: American Journal of Medical Genetics. 2000 May 1; 92(1): 19-24. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10797418

•

Sudden death in growth hormone-treated children with Prader-Willi syndrome. Author(s): Vliet GV, Deal CL, Crock PA, Robitaille Y, Oligny LL. Source: The Journal of Pediatrics. 2004 January; 144(1): 129-31. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=14722532

•

Sudden death of a girl with Prader-Willi syndrome. Author(s): Oiglane E, Ounap K, Bartsch O, Rein R, Talvik T. Source: Genet Couns. 2002; 13(4): 459-64. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12558118

•

Sudden death of an infant with Prader-Willi syndrome--not a unique case? Author(s): Nordmann Y, Eiholzer U, l'Allemand D, Mirjanic S, Markwalder C. Source: Biology of the Neonate. 2002 August; 82(2): 139-41. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12169838

•

Sustained benefit after 2 years of growth hormone on body composition, fat utilization, physical strength and agility, and growth in Prader-Willi syndrome. Author(s): Myers SE, Carrel AL, Whitman BY, Allen DB. Source: The Journal of Pediatrics. 2000 July; 137(1): 42-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10891820

•

Sustained benefits of growth hormone on body composition, fat utilization, physical strength and agility, and growth in Prader-Willi syndrome are dose-dependent. Author(s): Carrel AL, Myers SE, Whitman BY, Allen DB. Source: J Pediatr Endocrinol Metab. 2001 September-October; 14(8): 1097-105. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11592566

Studies

45

•

The assessment of food-related problems in individuals with Prader-Willi syndrome. Author(s): Russell H, Oliver C. Source: The British Journal of Clinical Psychology / the British Psychological Society. 2003 November; 42(Pt 4): 379-92. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=14633414

•

The behavioral impact of growth hormone treatment for children and adolescents with Prader-Willi syndrome: a 2-year, controlled study. Author(s): Whitman BY, Myers S, Carrel A, Allen D. Source: Pediatrics. 2002 February; 109(2): E35. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11826245

•

The changing purpose of Prader-Willi syndrome clinical diagnostic criteria and proposed revised criteria. Author(s): Gunay-Aygun M, Schwartz S, Heeger S, O'Riordan MA, Cassidy SB. Source: Pediatrics. 2001 November; 108(5): E92. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11694676

•

The genetics, diagnosis, and management of Prader-Willi syndrome. Author(s): Nativio DG. Source: Journal of Pediatric Health Care : Official Publication of National Association of Pediatric Nurse Associates & Practitioners. 2002 November-December; 16(6): 298-303. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12436099

•

The paradox of Prader-Willi syndrome: a genetic model of starvation. Author(s): Holland A, Whittington J, Hinton E. Source: Lancet. 2003 September 20; 362(9388): 989-91. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=14511934

•

The Prader-Willi syndrome and the Angelman syndrome. Author(s): Vogels A, Fryns JP. Source: Genet Couns. 2002; 13(4): 385-96. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12558108

•

The role of genomic imprinting in human developmental disorders: lessons from Prader-Willi syndrome. Author(s): Hanel ML, Wevrick R. Source: Clinical Genetics. 2001 March; 59(3): 156-64. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11260224

46

Prader-Willi Syndrome

•

Topiramate attenuates self-injurious behaviour in Prader-Willi Syndrome. Author(s): Shapira NA, Lessig MC, Murphy TK, Driscoll DJ, Goodman WK. Source: The International Journal of Neuropsychopharmacology / Official Scientific Journal of the Collegium Internationale Neuropsychopharmacologicum (Cinp). 2002 June; 5(2): 141-5. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12135538

•

Topiramate effectiveness in Prader-Willi syndrome. Author(s): Smathers SA, Wilson JG, Nigro MA. Source: Pediatric Neurology. 2003 February; 28(2): 130-3. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=12699864

•

Treatment of covert food stealing in an individual with Prader-Willi syndrome. Author(s): Maglieri KA, DeLeon IG, Rodriguez-Catter V, Sevin BM. Source: J Appl Behav Anal. 2000 Winter; 33(4): 615-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11214035

•

Unbalanced reciprocal translocations in cases of Prader-Willi syndrome. Author(s): Duckett DP, Roberts SH, Davies P. Source: Human Genetics. 1984; 67(2): 156-61. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=6336319

•

Unbalanced translocation (15;17)(q13;13.3) with apparent Prader-Willi syndrome but without Miller-Dieker syndrome. Author(s): Elder FF, Nichols MM, Hood OJ, Harrison WR 3rd. Source: American Journal of Medical Genetics. 1985 March; 20(3): 519-24. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=3993677

•

Unbalanced translocation t(15;22) in “severe” Prader-Willi syndrome. Author(s): Smith A, Jauch A, St Heaps L, Robson L, Kearney B. Source: Annales De Genetique. 2000 July-December; 43(3-4): 125-30. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11164193

•

Unexpected Angelman syndrome molecular defect in a girl displaying clinical features of Prader-Willi syndrome. Author(s): Dupont JM, Le Tessier D, Rabineau D, Cuisset L, Vasseur C, Jeanpierre M, Delpech M, Pinton F, Ponsot G, Denavit MF. Source: Journal of Medical Genetics. 1999 August; 36(8): 652-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10465123

Studies

47

•

Uniparental disomy explains the occurrence of the Angelman or Prader-Willi syndrome in patients with an additional small inv dup(15) chromosome. Author(s): Robinson WP, Wagstaff J, Bernasconi F, Baccichetti C, Artifoni L, Franzoni E, Suslak L, Shih LY, Aviv H, Schinzel AA. Source: Journal of Medical Genetics. 1993 September; 30(9): 756-60. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8411071

•

Unique karyotypes in two patients with Prader-Willi syndrome. Author(s): Narahara K, Hiramoto K, Murakami M, Miyake S, Tsuji K, Yokoyama Y, Namba H, Ninomiya S, Murakami R, Seino Y. Source: American Journal of Medical Genetics. 1992 March 1; 42(5): 671-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=1632436

•

Using stable isotopes to assess reduced physical activity of individuals with PraderWilli syndrome. Author(s): Davies PS, Joughin C. Source: Am J Ment Retard. 1993 November; 98(3): 349-53. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8292311

•

Vagotomy for treatment of obesity in childhood due to Prader-Willi syndrome. Author(s): Fonkalsrud EW, Bray G. Source: Journal of Pediatric Surgery. 1981 December; 16(6): 888-9. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=7338771

•

Validation studies of SNRPN methylation as a diagnostic test for Prader-Willi syndrome. Author(s): Mowery-Rushton PA, Hanchett JM, Zipf WB, Rogan PK, Surti U. Am J Med Genet. 2000 Jan 17;90(2):177 Source: American Journal of Medical Genetics. 1996 December 2; 66(1): 77-80. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=10722401

•

Visceral adipose tissue and metabolic complications of obesity are reduced in PraderWilli syndrome female adults: evidence for novel influences on body fat distribution. Author(s): Goldstone AP, Thomas EL, Brynes AE, Bell JD, Frost G, Saeed N, Hajnal JV, Howard JK, Holland A, Bloom SR. Source: The Journal of Clinical Endocrinology and Metabolism. 2001 September; 86(9): 4330-8. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11549670

48

Prader-Willi Syndrome

•

Visual capacity and Prader-Willi syndrome. Author(s): Fox R, Sinatra RB, Mooney MA, Feurer ID, Butler MG. Source: Journal of Pediatric Ophthalmology and Strabismus. 1999 November-December; 36(6): 331-6. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=11132665

•

Visual evoked potentials in Prader-Willi syndrome. Author(s): Apkarian P, Spekreijse H, van Swaay E, van Schooneveld M. Source: Documenta Ophthalmologica. Advances in Ophthalmology. 1989 April; 71(4): 355-67. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2791841

•

Voice, speech and language characteristics of children with Prader-Willi syndrome. Author(s): Akefeldt A, Akefeldt B, Gillberg C. Source: Journal of Intellectual Disability Research : Jidr. 1997 August; 41 ( Pt 4): 302-11. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=9297607

•

Water intoxication in a patient with the Prader-Willi syndrome treated with desmopressin for nocturnal enuresis. Author(s): Robson WL, Shashi V, Nagaraj S, Norgaard JP. Source: The Journal of Urology. 1997 February; 157(2): 646-7. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8996389

•

Weight control of children with Prader-Willi syndrome. Author(s): Pipes PL, Holm VA. Source: Journal of the American Dietetic Association. 1973 May; 62(5): 520-4. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=4698198

•

What is the value of growth hormone treatment in short children with specified syndrome? Turner's syndrome, osteochondrodysplasias, Prader-Willi syndrome, Noonan syndrome. Author(s): Nilsson KO. Source: Acta Paediatr Scand Suppl. 1989; 362: 61-8. Review. No Abstract Available. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=2485602

•

Why is there no diploid overdose effect in Prader-Willi syndrome due to uniparental disomy? Author(s): Smith A. Source: Acta Genet Med Gemellol (Roma). 1996; 45(1-2): 179-89. Review. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=A bstract&list_uids=8872029

49

CHAPTER 2. NUTRITION AND PRADER-WILLI SYNDROME Overview In this chapter, we will show you how to find studies dedicated specifically to nutrition and Prader-Willi syndrome.

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

4

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

50

Prader-Willi Syndrome

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

A nutrition survey of and recommendations for individuals with Prader-Willi syndrome who live in group homes. Author(s): Department of Home Economics, Central Michigan University, Mt Pleasant 48859. Source: Hoffman, C J Aultman, D Pipes, P J-Am-Diet-Assoc. 1992 July; 92(7): 823-30, 833 0002-8223

•

Abnormal ventilatory responses in patients with Prader-Willi syndrome. Author(s): Pulmonary Medicine Section, University of Arkansas for Medical Sciences, 4301 West Markham Street, Little Rock, Arkansas 72205-7199, USA. Source: Menendez, A A Eur-J-Pediatr. 1999 November; 158(11): 941-2 0340-6199

•

Characteristics of abnormal food-intake patterns in children with Prader-Willi syndrome and study of effects of naloxone. Source: Zipf, W B Berntson, G G Am-J-Clin-Nutr. 1987 August; 46(2): 277-81 0002-9165

•

Characteristics of the eating disorder in Prader-Willi syndrome: implications for treatment. Author(s): Department of Psychiatry, University of Cambridge, England. Source: Holland, A J Treasure, J Coskeran, P Dallow, J J-Intellect-Disabil-Res. 1995 October; 39 ( Pt 5)373-81 0964-2633

•

Effects of growth hormone in Prader-Willi syndrome. A case report. Author(s): Ranier School, DSHS State of Washington, Mary Bridge Children's Health Center, Tacoma. Source: Ruvalcaba, R H Holm, V A Clin-Pediatr-(Phila). 1993 May; 32(5): 292-5 0009-9228

•

Effects of mazindol in two patients with Prader-Willi syndrome. Author(s): Division of Child Neurology, Faculty of Medicine, Tottori University, Yonago, Japan. Source: Itoh, M Koeda, T Ohno, K Takeshita, K Pediatr-Neurol. 1995 November; 13(4): 349-51 0887-8994

•

Genetic and clinical advances in Prader-Willi syndrome. Author(s): Spaulding Rehabilitation Hospital, Boston, MA 02114, USA. Source: Wharton, R H Loechner, K J Curr-Opin-Pediatr. 1996 December; 8(6): 618-24 1040-8703

•

Growth hormone secretion and effects of growth hormone therapy on growth velocity and weight gain in children with Prader-Willi syndrome. Author(s): Department of Pediatrics, Winthrop-University Hospital, Mineola, New York 11501, USA. Source: Angulo, M Castro Magana, M Mazur, B Canas, J A Vitollo, P M Sarrantonio, M J-Pediatr-Endocrinol-Metab. 1996 May-June; 9(3): 393-400

•

Metabolic changes following gastroplasty in Prader-Willi syndrome--a case report. Author(s): First Department of Surgery, Osaka University Medical School, Japan. Source: Miyata, M Dousei, T Harada, T Aono, T Kitagawa, T Nose, O Kawashima, Y Jpn-J-Surg. 1990 May; 20(3): 359-64 0047-1909

•

Molecular pathogenesis of Prader-Willi syndrome. Source: Nicholls, R.D. Glenn, C.C. Jong, M.T.C. Saitoh, S. Mascari, M.J. Driscoll, D.J. Molecular and genetic aspects of obesity /. Baton Rouge : Louisiana State University Press, c1996. page 560-577. ISBN: 0807120251 (cloth : alk paper)

Nutrition

51

•

Pancreatic polypeptide infusions reduce food intake in Prader-Willi syndrome. Author(s): Department of Psychology, Ohio State University, Columbus 43210. Source: Berntson, G G Zipf, W B O'Dorisio, T M Hoffman, J A Chance, R E Peptides. 1993 May-June; 14(3): 497-503 0196-9781

•

Parenteral protein-sparing modified fast in an obese adolescent with Prader-Willi syndrome. Author(s): Massachusetts General Hospital, Harvard Medical School, Boston. Source: Collier, S B Walker, W A Nutr-Revolume 1991 August; 49(8): 235-8 0029-6643

•

Photoanthropometric study of craniofacial traits in individuals with Prader-Willi syndrome on short-term growth hormone therapy. Author(s): Department of Pediatrics, Vanderbilt University School of Medicine, Nashville, TN 37230, USA. Source: Butler, M G Hovis, C L Angulo, M A Clin-Genet. 1998 April; 53(4): 268-75 00099163

•

Physical effects of growth hormone treatment in children with Prader-Willi syndrome. Author(s): Department of Pediatrics, Saint Louis University, Missouri, USA. [email protected] Source: Myers, S E Carrel, A L Whitman, B Y Allen, D B Acta-Paediatr-Suppl. 1999 December; 88(433): 112-4 0803-5326

•

Prader-Willi syndrome with elevated follicle stimulating hormone levels and diabetes mellitus. Author(s): Department of Internal Medicine, Public Tomioka General Hospital, Gunma. Source: Nagai, T Mimura, N Tomizawa, T Monden, T Mori, M Intern-Med. 1998 December; 37(12): 1039-41 0918-2918

•

Protein meal-stimulated pancreatic polypeptide secretion in Prader-Willi syndrome of adults. Author(s): Department of Pathology, University of Kansas Medical Center, Kansas City 66103. Source: Tomita, T Greeley, G Watt, L Doull, V Chance, R Pancreas. 1989; 4(4): 395-400 0885-3177

•

Psychopharmacogenetic aspects of Prader-Willi syndrome. Author(s): Children's Psychiatric Research Institute (CPRI), London, Ontario, Canada. Source: Tu, J B Hartridge, C Izawa, J J-Am-Acad-Child-Adolesc-Psychiatry. 1992 November; 31(6): 1137-40 0890-8567

•

Recurrent brief depression in Prader-Willi syndrome: a case report. Author(s): Department of Psychiatry, University of Occupational and Environmental Health, Kitakyushu, Japan. Source: Watanabe, H Ohmori, O Abe, K Psychiatr-Genet. 1997 Spring; 7(1): 41-4 09558829

•

Role of food familiarity and taste quality in food preferences of individuals with Prader-Willi syndrome. Author(s): Monell Chemical Senses Center, Philadelphia, PA 19104-3308, USA. Source: Rankin, K M Mattes, R D Int-J-Obes-Relat-Metab-Disord. 1996 August; 20(8): 759-62 0307-0565

•

Short-term infusion of pancreatic polypeptide: effect on children with Prader-Willi syndrome. Author(s): Department of Pediatrics, Children's Hospital, Columbus, OH 43205.

52

Prader-Willi Syndrome

Source: Zipf, W B O'Dorisio, T M Berntson, G G Am-J-Clin-Nutr. 1990 February; 51(2): 162-6 0002-9165 •

Sweetness thresholds and preferences of individuals with Prader-Willi syndrome. Source: Prince, M.E. Hoffman, C.J. Topics-clin-nutr. Frederick, Md. : Aspen Publishers Inc. Sept 1999. volume 14 (4) page 58-63. 0883-5691

•

The growth hormone response to hexarelin in patients with Prader-Willi syndrome. Author(s): Divisione di Pediatria e Diabetologia, Ospedale del Bambino Gesu, Palidoro, Roma, Italy. Source: Cappa, M Raguso, G Palmiotto, T Faedda, A Gurreri, F Neri, G Deghenghi, R Loche, S J-Endocrinol-Invest. 1998 September; 21(8): 501-5 0391-4097

•

The Prader-Willi syndrome: a self supporting program for children, youngsters and adults. Author(s): Centre for Human Genetics, University of Leuven, Belgium. Source: Descheemaeker, M J Swillen, A Plissart, L Borghgraef, M Rasenberg, S Curfs, L M Fryns, J P Genet-Couns. 1994; 5(2): 199-205 1015-8146

•

Total body bone mineral measurements in children with Prader-Willi syndrome: the influence of the skull's bone mineral content per area (BMA) and of height. Author(s): Department of Diagnostic Radiology, Karolinska Institute, Stockholm, Sweden. Source: BrisMarch, T B Lindgren, A C Ringertz, H Rosenborg, M Ritzen, M E PediatrRadiol. 1998 January; 28(1): 38-42 0301-0449

•

Trimethylaminuria in a girl with Prader-Willi syndrome and del(15)(q11q13). Author(s): Department of Medical Genetics, University of South Alabama, Mobile 36688. Source: Chen, H Aiello, F Am-J-Med-Genet. 1993 February 1; 45(3): 335-9 0148-7299

•

Weight management of youth with Prader-Willi syndrome. Source: Mullins, J.B. Vogl Maier, B. Int-J-Eating-Disord. New York, N.Y. : John Wiley & Sons. May 1987. volume 6 (3) page 419-425. 0276-3478

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

•

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

•

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

•

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

•

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/

Nutrition

53

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

55

CHAPTER 3. SYNDROME

DISSERTATIONS

ON

PRADER-WILLI

Overview In this chapter, we will give you a bibliography on recent dissertations relating to PraderWilli 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 “Prader-Willi syndrome” (or a synonym) in their titles. To accurately reflect the results that you might find while conducting research on Prader-Willi syndrome, we have not necessarily excluded non-medical dissertations in this bibliography.

Dissertations on Prader-Willi 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 Prader-Willi 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: •

A Study of the Intellectual, Emotional and Social Functioning of Individuals with Prader-Willi Syndrome by Bowman, James Francis, EdD from Harvard University, 1985, 151 pages http://wwwlib.umi.com/dissertations/fullcit/8601989

•

Children with Prader-Willi Syndrome Vs. Williams Syndrome: Parents' Attributional Cues on a Jigsaw Puzzle Task by Ly, Tran My; PhD from University of California, Los Angeles, 2003, 86 pages http://wwwlib.umi.com/dissertations/fullcit/3089041

•

Differential Reinforcement of Exercise by Individuals with Prader-Willi Syndrome Using Calories As Reinforcers by Keefer, Nikki Lyn; PhD from University of Florida, 2003, 121 pages http://wwwlib.umi.com/dissertations/fullcit/3096630

56

Prader-Willi Syndrome

•

Elucidation of Imprinting Mechanisms and Phenotypes in Prader-Willi Syndrome Mice by Chamberlain, Stormy Jo; PhD from University of Florida, 2003, 123 pages http://wwwlib.umi.com/dissertations/fullcit/3096603

•

Epigenetic Modifications Associated with the Maternal and Paternal Alleles of Necdin, an Imprinted Gene in the Prader-Willi Syndrome Region by Hanel, Meredith Leah; PhD from University of Alberta (Canada), 2003, 169 pages http://wwwlib.umi.com/dissertations/fullcit/NQ82110

•

Identification and Expression Patterns of Prader-Willi Syndrome Candidate Genes: Implications for Mouse Models and Human Phenotypes by Lee, Syann; PhD from University of Alberta (Canada), 2003, 219 pages http://wwwlib.umi.com/dissertations/fullcit/NQ82131

•

Molecular Analysis of the Prader-Willi Syndrome Chromosome Region in Genomic DNA of Prader-Willi Syndrome Patients by Gregory, Carolyn A; PhD from The University of Manitoba (Canada), 1988 http://wwwlib.umi.com/dissertations/fullcit/NL48023

•

Phototherapy Life Books: Improving Self-Esteem and Psychosocial Perceptions for Individuals with Prader-Willi Syndrome and Learning Disabilities by Zamrazil, Diana Joyce; MA from Ursuline College, 2003, 196 pages http://wwwlib.umi.com/dissertations/fullcit/1414209

•

Social and Psychological Aspects of Prader-Willi Syndrome by James, Terrance N; PhD from University of Calgary (Canada), 1987 http://wwwlib.umi.com/dissertations/fullcit/NL42544

•

The Effect of a Special Rehabilitation Group Program for Children with Prader-Willi Syndrome on Selected Measures of Weight, Physical Fitness, Social Adaptability and Personality Factors by Vogl, Beate R., PhD from University of Pittsburgh, 1983, 221 pages http://wwwlib.umi.com/dissertations/fullcit/8411793

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.

57

CHAPTER 4. CLINICAL TRIALS AND PRADER-WILLI SYNDROME Overview In this chapter, we will show you how to keep informed of the latest clinical trials concerning Prader-Willi syndrome.

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

Treatment of Self-Injurious Behavior in Individuals with Prader-Willi Syndrome Condition(s): Prader-Willi Syndrome; Self-Injurious Behavior Study Status: This study is currently recruiting patients. Sponsor(s): National Institute of Child Health and Human Development (NICHD) Purpose - Excerpt: Prader-Willi syndrome (PWS) is a genetic disorder usually caused by the deletion of a specific gene. One of the symptoms of PWS is self-injurious behavior (SIB); a common form of SIB in PWS patients is skin picking. The injury may be severe enough to require frequent medical attention. This trial will evaluate SIB in individuals with PWS and will test the effectiveness of the drug topiramate to control SIB. Study Type: Interventional Contact(s): see Web site below Web Site: http://clinicaltrials.gov/ct/show/NCT00065923

•

Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion Syndromes Condition(s): Williams Syndrome; Angelman Syndrome; Prader-Willi Syndrome; Shprintzen syndrome; Smith-Magenis syndrome; DiGeorge Syndrome; Chromosome Abnormalities

5

These are listed at www.ClinicalTrials.gov.

58

Prader-Willi Syndrome

Study Status: This study is completed. Sponsor(s): National Institute of Neurological Disorders and Stroke (NINDS); Baylor College of Medicine Purpose - Excerpt: Objectives: I. Investigate phenotype and genotype correlations in patients with Smith-Magenis syndrome (SMS) associated with del(17p11.2). II. Clinically evaluate SMS patients with unusual deletions or duplication of proximal 17p. III. Clinically evaluate patients with Williams syndrome with molecular characterization of 7q11.23. IV. Perform clinical studies of Prader-Willi, Angelman, DiGeorge, and Shprintzen syndrome patients with unique molecular findings in 15q11q13 or 22q11.2. V. Perform genotype and phenotype correlations in Prader-Willi patients, particularly those with loss of expression of only some of the imprinted transcripts in 15q11-q13. VI. Evaluate putative Angelman syndrome patients who do not have classic large deletion, uniparental disomy, or imprinting mutations, and perform molecular studies of the Angelman gene, UBE3A, and identify mutations of this gene. VII. Investigate phenotype and genotype correlations in patients with terminal deletions of chromosome 1p. Study Type: Observational Contact(s): see Web site below Web Site: http://clinicaltrials.gov/ct/show/NCT00004351

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 “Prader-Willi 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/

•

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

•

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

•

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

•

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

Clinical Trials 59

•

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

•

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

•

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

•

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/

•

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

•

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

•

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

•

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

•

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

•

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

61

CHAPTER 5. BOOKS ON PRADER-WILLI SYNDROME Overview This chapter provides bibliographic book references relating to Prader-Willi syndrome. In addition to online booksellers such as www.amazon.com and www.bn.com, excellent sources for book titles on Prader-Willi 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 “Prader-Willi 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 Prader-Willi syndrome: •

A-Z Reference Book of Syndromes and Inherited Disorders Source: London, England: Chapman and Hall. 1996. 394 p. Contact: Available from Singular Publishing Group, Inc. 401 West 'A' Street, Suite 325, San Diego, CA 92101-7904. (800) 521-8545 or (619) 238-6777. Fax (800) 774-8398 or (619) 238-6789. E-mail: [email protected]. Website: www.singpub.com. PRICE: $42.95 plus shipping and handling. ISBN: 0412641208. Summary: This book provides a practical reference for both caregivers and those with a syndrome or inherited disorder. The author describes the disorders and problems of both children and adults, and considers the day-to-day management of conditions. The book is written in nontechnical language while still providing enough detail for medical, nursing, and midwifery professionals. The syndromes and disorders are listed alphabetically by name. Those specifically related to deafness, communication, and

62

Prader-Willi Syndrome

speech and language include achondroplasia, Alport's syndrome, Apert's syndrome, Asperger's syndrome, Batten's disease, Beckwith-Wiedeman syndrome, CHARGE syndrome, Cockayne syndrome, Cornelia de Lange syndrome, Crouzon's syndrome, Down's syndrome, Duchenne muscular dystrophy, Edward's syndrome, Ehlers-Danlos syndrome, Fabry disease, fetal alcohol syndrome, Fragile X syndrome, Gilles de la Tourette syndrome, Goldenhar syndrome, Hunter's syndrome, Hurler's syndrome, Klinefelter's syndrome, LEOPARD syndrome, Moebius syndrome, Morquio's syndrome, neurofibromatosis, Niemann-Pick disease, Noonan's syndrome, osteogenesis imperfecta, Pierre-Robin syndrome, Prader-Willi syndrome, Rett's syndrome, Reye's syndrome, San Filippo syndrome, Smith-Magenis syndrome, Stickler syndrome, Tay-Sachs disease, Treacher Collins syndrome, Turner's syndrome, Usher's syndrome, Waardenburg's syndrome, and William's syndrome. For each syndrome, the author lists alternative names, incidence, causation (etiology), characteristics or symptoms, management implications (treatment options), prognosis, and self-help groups to contact. Most groups listed are in England. The book concludes with three appendices that provide a discussion of genetics, a listing of regional genetics centers (in England), and a glossary of terms. A subject index is also included. (AA-M).

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

Prader-Willi Syndrome: Prader-Labhart-Willi Syndrome Source: in Plumridge, D., et al., eds. Student with a Genetic Disorder: Educational Implications for Special Education Teachers and for Physical Therapists, Occupational Therapists, and Speech Pathologists. Springfield, IL: Charles C Thomas Publisher. 1993. p. 86-93. Contact: Available from Charles C Thomas Publisher. 2600 South First Street, Springfield, IL 62794-9265. (212) 789-8980. Fax (217) 789-9130. PRICE: $75.95 plus shipping and handling (cloth); $39.95 plus shipping and handling (paper). ISBN: 0398058393. Summary: Children with Prader-Willi syndrome have a complex collection of physical, developmental, and behavioral characteristics that affect learning and lifelong functioning. This chapter on Prader-Willi syndrome is from a text for special education teachers, physical therapists, occupational therapists, and speech pathologists on the educational implications of genetic disorders. The author stresses that students with this condition need an early and vigorous multidisciplinary team approach. Topics covered include the physical and characteristic features of the disorder, the genetics of the disorder, the cognitive and behavior profiles, the educational implications, the role of physical therapy, occupational therapy, hearing and speech considerations, psychosocial issues, and prognosis. 1 figure. 10 references.

Books

63

65

CHAPTER 6. PERIODICALS AND NEWS ON PRADER-WILLI SYNDROME Overview In this chapter, we suggest a number of news sources and present various periodicals that cover Prader-Willi syndrome.

News Services and Press Releases One of the simplest ways of tracking press releases on Prader-Willi 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 “Prader-Willi 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 Prader-Willi 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 “Prader-Willi syndrome” (or synonyms). The following was recently listed in this archive for Prader-Willi syndrome: •

Rapid Test For Prader-Willi Syndrome: Highlights From Clinical Chemistry Meeting Source: Reuters Medical News Date: July 28, 1997

66

Prader-Willi Syndrome

•

Excessive Sleepiness May Be Characteristic In Prader-Willi Syndrome Source: Reuters Medical News Date: December 12, 1996

•

Test For Prader-Willi Syndrome "Rapid And Reliable" Source: Reuters Medical News Date: October 23, 1996 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 “Prader-Willi 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 “Prader-Willi syndrome” (or synonyms). If you know the name of a company that is relevant to Prader-Willi 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/.

Periodicals and News

67

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 “Prader-Willi syndrome” (or synonyms).

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

69

CHAPTER 7. RESEARCHING MEDICATIONS Overview While a number of hard copy or CD-ROM resources are available for researching medications, a more flexible method is to use Internet-based databases. Broadly speaking, there are two sources of information on approved medications: public sources and private sources. We will emphasize free-to-use public sources.

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

70

Prader-Willi Syndrome

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

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

PDRhealth The PDRhealth database is a free-to-use, drug information search engine that has been written for the public in layman’s terms. It contains FDA-approved drug information adapted from the Physicians’ Desk Reference (PDR) database. PDRhealth can be searched by brand name, generic name, or indication. It features multiple drug interactions reports. Search PDRhealth at http://www.pdrhealth.com/drug_info/index.html. Other Web Sites Drugs.com (www.drugs.com) reproduces the information in the Pharmacopeia as well as commercial information. You may also want to consider the Web site of the Medical Letter, Inc. (http://www.medletter.com/) which allows users to download articles on various drugs and therapeutics for a nominal fee.

Researching Orphan Drugs Although the list of orphan drugs is revised on a daily basis, you can quickly research orphan drugs that might be applicable to Prader-Willi syndrome by using the database managed by the National Organization for Rare Disorders, Inc. (NORD), at http://www.rarediseases.org/. Scroll down the page, and on the left toolbar, click on “Orphan Drug Designation Database.” On this page (http://www.rarediseases.org/search/noddsearch.html), type “Prader-Willi syndrome” (or synonyms) into the search box, and click “Submit Query.” When you receive your results, note that not all of the drugs may be relevant, as some may have been withdrawn from orphan status. Write down or print out the name of each drug and the relevant contact information. From there, visit the Pharmacopeia Web site and type the name of each orphan drug into the search box at http://www.nlm.nih.gov/medlineplus/druginformation.html. You may need to contact the sponsor or NORD for further information. NORD conducts “early access programs for investigational new drugs (IND) under the Food and Drug Administration’s (FDA’s) approval ‘Treatment INDs’ programs which allow for a limited number of individuals to receive investigational drugs before FDA marketing approval.” If the orphan product about which you are seeking information is approved for

Researching Medications

71

marketing, information on side effects can be found on the product’s label. If the product is not approved, you may need to contact the sponsor. The following is a list of orphan drugs currently listed in the NORD Orphan Drug Designation Database for Prader-Willi syndrome: •

Etiocholanedione http://www.rarediseases.org/nord/search/nodd_full?code=482

•

Somatropin (rDNA) (trade name: Genotropin) http://www.rarediseases.org/nord/search/nodd_full?code=986

If you have any questions about a medical treatment, the FDA may have an office near you. Look for their number in the blue pages of the phone book. You can also contact the FDA through its toll-free number, 1-888-INFO-FDA (1-888-463-6332), or on the World Wide Web at www.fda.gov.

73

APPENDICES

75

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

NIH Guidelines Commonly referred to as “clinical” or “professional” guidelines, the National Institutes of Health publish physician guidelines for the most common diseases. Publications are available at the following by relevant Institute6: •

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

•

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/

6

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

76

Prader-Willi Syndrome

•

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

Physician Resources

77

NIH Databases In addition to the various Institutes of Health that publish professional guidelines, the NIH has designed a number of databases for professionals.7 Physician-oriented resources provide a wide variety of information related to the biomedical and health sciences, both past and present. The format of these resources varies. Searchable databases, bibliographic citations, full-text articles (when available), archival collections, and images are all available. The following are referenced by the National Library of Medicine:8 •

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

•

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

•

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

•

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

•

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

•

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

7

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

78

Prader-Willi Syndrome

•

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 Gateway9 The NLM (National Library of Medicine) Gateway is a Web-based system that lets users search simultaneously in multiple retrieval systems at the U.S. National Library of Medicine (NLM). It allows users of NLM services to initiate searches from one Web interface, providing one-stop searching for many of NLM’s information resources or databases.10 To use the NLM Gateway, simply go to the search site at http://gateway.nlm.nih.gov/gw/Cmd. Type “Prader-Willi 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 1545 18 96 2 57 1718

HSTAT11 HSTAT is a free, Web-based resource that provides access to full-text documents used in healthcare decision-making.12 These documents include clinical practice guidelines, quickreference guides for clinicians, consumer health brochures, evidence reports and technology assessments from the Agency for Healthcare Research and Quality (AHRQ), as well as AHRQ’s Put Prevention Into Practice.13 Simply search by “Prader-Willi syndrome” (or synonyms) at the following Web site: http://text.nlm.nih.gov.

9

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

10

The NLM Gateway is currently being developed by the Lister Hill National Center for Biomedical Communications (LHNCBC) at the National Library of Medicine (NLM) of the National Institutes of Health (NIH). 11 Adapted from HSTAT: http://www.nlm.nih.gov/pubs/factsheets/hstat.html. 12 13

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

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

Physician Resources

79

Coffee Break: Tutorials for Biologists14 Coffee Break is a general healthcare site that takes a scientific view of the news and covers recent breakthroughs in biology that may one day assist physicians in developing treatments. Here you will find a collection of short reports on recent biological discoveries. Each report incorporates interactive tutorials that demonstrate how bioinformatics tools are used as a part of the research process. Currently, all Coffee Breaks are written by NCBI staff.15 Each report is about 400 words and is usually based on a discovery reported in one or more articles from recently published, peer-reviewed literature.16 This site has new articles every few weeks, so it can be considered an online magazine of sorts. It is intended for general background information. You can access the Coffee Break Web site at the following hyperlink: http://www.ncbi.nlm.nih.gov/Coffeebreak/.

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

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

•

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

The Genome Project and Prader-Willi Syndrome In the following section, we will discuss databases and references which relate to the Genome Project and Prader-Willi syndrome. Online Mendelian Inheritance in Man (OMIM) The Online Mendelian Inheritance in Man (OMIM) database is a catalog of human genes and genetic disorders authored and edited by Dr. Victor A. McKusick and his colleagues at Johns Hopkins and elsewhere. OMIM was developed for the World Wide Web by the National Center for Biotechnology Information (NCBI).17 The database contains textual information, pictures, and reference information. It also contains copious links to NCBI’s Entrez database of MEDLINE articles and sequence information. 14 Adapted 15

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

The figure that accompanies each article is frequently supplied by an expert external to NCBI, in which case the source of the figure is cited. The result is an interactive tutorial that tells a biological story. 16 After a brief introduction that sets the work described into a broader context, the report focuses on how a molecular understanding can provide explanations of observed biology and lead to therapies for diseases. Each vignette is accompanied by a figure and hypertext links that lead to a series of pages that interactively show how NCBI tools and resources are used in the research process. 17 Adapted from http://www.ncbi.nlm.nih.gov/. Established in 1988 as a national resource for molecular biology information, NCBI creates public databases, conducts research in computational biology, develops software tools for analyzing genome data, and disseminates biomedical information--all for the better understanding of molecular processes affecting human health and disease.

80

Prader-Willi Syndrome

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

Prader-Willi Syndrome Web site: http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176270 Genes and Disease (NCBI - Map)

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

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

•

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

•

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

•

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

•

Nervous System: Mind and body. Examples: Alzheimer disease, amyotrophic lateral sclerosis, Angelman syndrome, Charcot-Marie-Tooth disease, epilepsy, essential tremor, fragile X syndrome, Friedreich’s ataxia, Huntington disease, Niemann-Pick disease, Parkinson disease, Prader-Willi syndrome, Rett syndrome, spinocerebellar atrophy, Williams syndrome. Web site: http://www.ncbi.nlm.nih.gov/disease/Brain.html

Physician Resources

81

•

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

•

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

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

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

To access the Entrez system at the National Center for Biotechnology Information, go to http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?CMD=search&DB=genome, and then

82

Prader-Willi Syndrome

select the database that you would like to search. The databases available are listed in the drop box next to “Search.” Enter “Prader-Willi syndrome” (or synonyms) into the search box and click “Go.” Jablonski’s Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes Database18 This online resource has been developed to facilitate the identification and differentiation of syndromic entities. Special attention is given to the type of information that is usually limited or completely omitted in existing reference sources due to space limitations of the printed form. At http://www.nlm.nih.gov/mesh/jablonski/syndrome_toc/toc_a.html, you can search across syndromes using an alphabetical index. Search by keywords at http://www.nlm.nih.gov/mesh/jablonski/syndrome_db.html. The Genome Database19 Established at Johns Hopkins University in Baltimore, Maryland in 1990, the Genome Database (GDB) is the official central repository for genomic mapping data resulting from the Human Genome Initiative. In the spring of 1999, the Bioinformatics Supercomputing Centre (BiSC) at the Hospital for Sick Children in Toronto, Ontario assumed the management of GDB. The Human Genome Initiative is a worldwide research effort focusing on structural analysis of human DNA to determine the location and sequence of the estimated 100,000 human genes. In support of this project, GDB stores and curates data generated by researchers worldwide who are engaged in the mapping effort of the Human Genome Project (HGP). GDB’s mission is to provide scientists with an encyclopedia of the human genome which is continually revised and updated to reflect the current state of scientific knowledge. Although GDB has historically focused on gene mapping, its focus will broaden as the Genome Project moves from mapping to sequence, and finally, to functional analysis. To access the GDB, simply go to the following hyperlink: http://www.gdb.org/. Search “All Biological Data” by “Keyword.” Type “Prader-Willi syndrome” (or synonyms) into the search box, and review the results. If more than one word is used in the search box, then separate each one with the word “and” or “or” (using “or” might be useful when using synonyms).

18

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

83

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 Prader-Willi syndrome can appear at any moment and be published by a number of sources, the best approach to finding guidelines is to systematically scan the Internet-based services that post them.

Patient Guideline Sources The remainder of this chapter directs you to sources which either publish or can help you find additional guidelines on topics related to Prader-Willi 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 Prader-Willi 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 “Prader-Willi syndrome”:

84

Prader-Willi Syndrome

Birth Defects http://www.nlm.nih.gov/medlineplus/birthdefects.html Genetic Brain Disorders http://www.nlm.nih.gov/medlineplus/geneticbraindisorders.html Immune System and Disorders http://www.nlm.nih.gov/medlineplus/immunesystemanddisorders.html Leukodystrophies http://www.nlm.nih.gov/medlineplus/leukodystrophies.html Metabolic Disorders http://www.nlm.nih.gov/medlineplus/metabolicdisorders.html Prader-Willi Syndrome http://www.nlm.nih.gov/medlineplus/praderwillisyndrome.html

Within the health topic page dedicated to Prader-Willi syndrome, the following was listed: •

General/Overviews Questions and Answers on Prader-Willi Syndrome Source: Prader-Willi Syndrome Association http://www.pwsausa.org/faq.htm

•

Nutrition Prader-Willi Food Pyramid Source: Prader-Willi Syndrome Association http://www.pwsausa.org/syndrome/foodpyramid.htm

•

Coping My Child Has Prader-Willi Syndrome, Now What? Source: Prader-Willi Syndrome Association http://www.pwsausa.org/Brochure/nowwhat.htm Someone You Know Has Prader-Willi Syndrome Source: Prader-Willi Syndrome Association http://www.pwsausa.org/Brochure/youknow.htm

•

Specific Conditions/Aspects Patient's Guide to Low Testosterone Source: Endocrine Society, Hormone Foundation http://www.medem.com/medlb/article_detaillb.cfm?article_ID=ZZZO7PDVDLC &sub_cat=57 Speech and Language and Prader-Willi Syndrome Source: Prader-Willi Syndrome Association http://www.pwsausa.org/Brochure/speech.htm

Patient Resources

•

85

From the National Institutes of Health Genes and Disease: Prader-Willi Syndrome Source: National Center for Biotechnology Information http://www.ncbi.nlm.nih.gov:80/books/bv.fcgi?tool=bookshelf&call=bv.View.Sho wSection&searchterm=prader&rid=gnd.section.182

•

Organizations National Institute of Child Health and Human Development http://www.nichd.nih.gov/ Prader-Willi Syndrome Association http://www.pwsausa.org/

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 Prader-Willi 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: •

Speech and Language and Prader-Willi Syndrome Source: Sarasota, FL: Prader-Willi Syndrome Association (USA). 199x. [2 p.]. Contact: Available from Prader Willi Syndrome Association (USA). 5700 Midnight Pass Road, Suite 6, Sarasota, FL 34242. (800) 926-4797 or (941) 312-0400. Fax (941) 312-0142. Email: [email protected]. Website: www.pwsausa.org. PRICE: Single copy free. Summary: For kids born with Prader-Willi syndrome (PWS), the development of speech and language skills is often delayed and problematic. This brochure describes how parents can stimulate language development and how professional help may support a child with PWS to achieve full potential in the use of speech and language. The brochure stresses that adequate speech and language skills contribute greatly to learning daily living tasks, to the educational progress, to personal growth, and to playing, working, and living with others. The brochure discusses the components of language development (receptive and expressive language, articulation, fluency, and voice), the impact of PWS on speech and language development, how to know when a speech language professional should be consulted, who can evaluate speech and language functions, the role of the speech language pathologist, and how to locate a speech language pathologist. The brochure concludes with a brief description of the

86

Prader-Willi Syndrome

Prader Willi Syndrome Association, an organization formed in 1975 to provide support, education, and advocacy for children with PWS and their parents. •

Prader-Willi Syndrome Source: in DeFeo, A.B., ed. Parent Articles 2. San Antonio, TX: Communication Skill Builders. 1995. p. 131-133. Contact: Available from Communication Skill Builders. Customer Service, 555 Academic Court, San Antonio, TX 78204-2498. (800) 211-8378; Fax (800) 232-1223. PRICE: $55.00 plus shipping and handling. Order Number 076-163-0732. Summary: This fact sheet, from a communication skills book for parents, provides information on Prader-Willi syndrome. Topics covered include a description of PraderWilli syndrome, common signs in infants and young children with Prader-Willi syndrome and in older children and adults with the disorder, how to manage the compulsive eating and difficult behaviors associated with Prader-Willi syndrome, other health issues in Prader-Willi syndrome, and speech and language considerations in children with Prader-Willi syndrome. The author provides detailed suggestions for parent-child interaction, including recommended activities. 1 reference. 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: •

Prader-Willi Syndrome: Frequently Asked Questions Summary: This document provides answers to questions about the diagnosis and treatment of Prader-Willi Syndrome. Source: Prader-Willi Syndrome Association (U.S.A.) http://www.healthfinder.gov/scripts/recordpass.asp?RecordType=0&RecordID=7751 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 Prader-Willi syndrome. The drawbacks of this approach are that the information is not organized by theme and that the references are often a mix of information for professionals and patients. Nevertheless, a large number of the listed Web sites provide useful background information. We can only recommend this route, therefore, for relatively rare or specific disorders, or when using highly targeted searches. To use the NIH search utility, visit the following Web page: http://search.nih.gov/index.html. PEDBASE Similar to NORD, PEDBASE covers relatively rare disorders, limited mainly to pediatric conditions. PEDBASE was designed by Dr. Alan Gandy. To access the database, which is

Patient Resources

87

more oriented to researchers than patients, you can view the current list of health topics covered at the following Web site: http://www.icondata.com/health/pedbase/pedlynx.htm. Additional Web Sources A number of Web sites are available to the public that often link to government sites. These can also point you in the direction of essential information. The following is a representative sample: •

AOL: http://search.aol.com/cat.adp?id=168&layer=&from=subcats

•

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

•

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

•

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

•

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

•

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

•

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

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

Prader-Willi Syndrome Association (UK) Telephone: 01 332 365676 Fax: 01 332 360401 Email: [email protected] Web Site: http://www.pwsa.co.uk Background: The Prader Willi Syndrome Association (UK)(PWSA (UK)) is a voluntary organization located in the United Kingdom and dedicated to promoting the care, welfare, treatment, interests, education, and advancement of persons affected by Prader Willi Syndrome. These goals are achieved by contacting and supporting families concerned with the disorder; raising funds; inviting and receiving contributions by way of subscriptions and donations; establishing mutual self-help groups; and fostering and supporting ongoing research. Prader Willi Syndrome is a complex multisystem disorder characterized by muscular weakness during infancy (infantile hypotonia); failure to thrive; a decrease in the efficiency of the testes or ovaries (hypogonadism); short stature and impaired intellectual and behavioral functioning. Eating excessive amounts of food (hyperphagia) leads to severe obesity in early childhood and adolescence. Established in 1981, PWSA consists of 1,200 members, including people with PWS, parents and professionals from health, social services and education. The Association produces various educational materials including a quarterly magazine and brochures. In addition, the Association, conducts regular support group meetings and supports ongoing patient advocacy. Relevant area(s) of interest: Hypogenital Dystrophy with Diabetic Tendency

88

•

Prader-Willi Syndrome

Prader-Willi Syndrome Association, National Headquarters Telephone: (941) 312-0400 Toll-free: (800) 926-4797 Fax: (941) 312-0142 Email: [email protected] Web Site: http://www.pwsausa.org Background: The Prader-Willi Syndrome Association (USA) is a non-profit voluntary health organization. Founded in 1975, the Association provides parents and healthcare professionals with a national and international network of information, support sevices, and research endeavors to expressly meet the needs of children and adults with PraderWilli syndrome and their families. The organization comprises parents, professionals and other interested individuals who are taking active roles in improving the lives of people with Prader-Willi syndrome. Goals include normalizing life for people with Prader-Willi Syndrome and their families, improving communication and education, and acting as a lifetime advocate for affected individuals. The Association also supports research, interdisciplinary communication, and increased professional knowledge of treatments. Educational materials include various brochures and pamphets. Relevant area(s) of interest: Hypogenital Dystrophy with Diabetic Tendency

Finding Associations There are several Internet directories that provide lists of medical associations with information on or resources relating to Prader-Willi syndrome. By consulting all of associations listed in this chapter, you will have nearly exhausted all sources for patient associations concerned with Prader-Willi syndrome. The National Health Information Center (NHIC) The National Health Information Center (NHIC) offers a free referral service to help people find organizations that provide information about Prader-Willi 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 “Prader-Willi syndrome” (or a synonym), and you will receive information on all relevant organizations listed in the database.

Patient Resources

89

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 “Prader-Willi 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 “Prader-Willi 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 “Prader-Willi syndrome” (or a synonym) into the search box, and click “Submit Query.”

91

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

Preparation Your local public library and medical libraries have interlibrary loan programs with the National Library of Medicine (NLM), one of the largest medical collections in the world. According to the NLM, most of the literature in the general and historical collections of the National Library of Medicine is available on interlibrary loan to any library. If you would like to access NLM medical literature, then visit a library in your area that can request the publications for you.20

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

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

20

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

92

Prader-Willi 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)21: •

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

•

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

•

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/

21

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

Finding Medical Libraries 93

•

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/

94

Prader-Willi Syndrome

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

Finding Medical Libraries 95

•

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/

96

Prader-Willi 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

97

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 Prader-Willi syndrome: •

Basic Guidelines for Prader-Willi Syndrome Prader-Willi syndrome Web site: http://www.nlm.nih.gov/medlineplus/ency/article/001605.htm

•

Signs & Symptoms for Prader-Willi Syndrome Decreased muscle tone Web site: http://www.nlm.nih.gov/medlineplus/ency/article/003298.htm Floppy Web site: http://www.nlm.nih.gov/medlineplus/ency/article/003298.htm Hunger Web site: http://www.nlm.nih.gov/medlineplus/ency/article/003134.htm Hypotonia Web site: http://www.nlm.nih.gov/medlineplus/ency/article/003298.htm

98

Prader-Willi Syndrome

Hypoxia Web site: http://www.nlm.nih.gov/medlineplus/ency/article/003215.htm Morbid obesity Web site: http://www.nlm.nih.gov/medlineplus/ency/article/003102.htm Obesity Web site: http://www.nlm.nih.gov/medlineplus/ency/article/003101.htm Skeletal (limb) abnormalities Web site: http://www.nlm.nih.gov/medlineplus/ency/article/003170.htm Stria Web site: http://www.nlm.nih.gov/medlineplus/ency/article/003287.htm Weight gain Web site: http://www.nlm.nih.gov/medlineplus/ency/article/003084.htm •

Diagnostics and Tests for Prader-Willi Syndrome Glucose tolerance test Web site: http://www.nlm.nih.gov/medlineplus/ency/article/003466.htm Hypercapnia Web site: http://www.nlm.nih.gov/medlineplus/ency/article/003469.htm Luteinizing hormone Web site: http://www.nlm.nih.gov/medlineplus/ency/article/003708.htm Testosterone Web site: http://www.nlm.nih.gov/medlineplus/ency/article/003707.htm

•

Background Topics for Prader-Willi Syndrome Chromosome Web site: http://www.nlm.nih.gov/medlineplus/ency/article/002327.htm Chronic Web site: http://www.nlm.nih.gov/medlineplus/ency/article/002312.htm Newborn infant Web site: http://www.nlm.nih.gov/medlineplus/ency/article/002271.htm Penis Web site: http://www.nlm.nih.gov/medlineplus/ency/article/002279.htm Respiratory Web site: http://www.nlm.nih.gov/medlineplus/ency/article/002290.htm Testicles Web site: http://www.nlm.nih.gov/medlineplus/ency/article/002334.htm

Online Glossaries

99

Weight control Web site: http://www.nlm.nih.gov/medlineplus/ency/article/001943.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

101

PRADER-WILLI SYNDROME DICTIONARY The definitions below are derived from official public sources, including the National Institutes of Health [NIH] and the European Union [EU]. Abdomen: That portion of the body that lies between the thorax and the pelvis. [NIH] 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] Adipocytes: Fat-storing cells found mostly in the abdominal cavity and subcutaneous tissue. Fat is usually stored in the form of tryglycerides. [NIH] Adipose Tissue: Connective tissue composed of fat cells lodged in the meshes of areolar tissue. [NIH] Adolescence: The period of life beginning with the appearance of secondary sex characteristics and terminating with the cessation of somatic growth. The years usually referred to as adolescence lie between 13 and 18 years of age. [NIH] 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] Aerobic: In biochemistry, reactions that need oxygen to happen or happen when oxygen is present. [NIH] Afferent: Concerned with the transmission of neural impulse toward the central part of the nervous system. [NIH] Affinity: 1. Inherent likeness or relationship. 2. A special attraction for a specific element, organ, or structure. 3. Chemical affinity; the force that binds atoms in molecules; the tendency of substances to combine by chemical reaction. 4. The strength of noncovalent chemical binding between two substances as measured by the dissociation constant of the complex. 5. In immunology, a thermodynamic expression of the strength of interaction between a single antigen-binding site and a single antigenic determinant (and thus of the stereochemical compatibility between them), most accurately applied to interactions among simple, uniform antigenic determinants such as haptens. Expressed as the association constant (K litres mole -1), which, owing to the heterogeneity of affinities in a population of antibody molecules of a given specificity, actually represents an average value (mean intrinsic association constant). 6. The reciprocal of the dissociation constant. [EU] Agonist: In anatomy, a prime mover. In pharmacology, a drug that has affinity for and stimulates physiologic activity at cell receptors normally stimulated by naturally occurring substances. [EU] Algorithms: A procedure consisting of a sequence of algebraic formulas and/or logical steps to calculate or determine a given task. [NIH] Alternative medicine: Practices not generally recognized by the medical community as standard or conventional medical approaches and used instead of standard treatments. Alternative medicine includes the taking of dietary supplements, megadose vitamins, and herbal preparations; the drinking of special teas; and practices such as massage therapy,

102

Prader-Willi Syndrome

magnet therapy, spiritual healing, and meditation. [NIH] Alveoli: Tiny air sacs at the end of the bronchioles in the lungs. [NIH] Amenorrhea: Absence of menstruation. [NIH] Amino acid: Any organic compound containing an amino (-NH2 and a carboxyl (- COOH) group. The 20 a-amino acids listed in the accompanying table are the amino acids from which proteins are synthesized by formation of peptide bonds during ribosomal translation of messenger RNA; all except glycine, which is not optically active, have the L configuration. Other amino acids occurring in proteins, such as hydroxyproline in collagen, are formed by posttranslational enzymatic modification of amino acids residues in polypeptide chains. There are also several important amino acids, such as the neurotransmitter y-aminobutyric acid, that have no relation to proteins. Abbreviated AA. [EU] Amnestic: Nominal aphasia; a difficulty in finding the right name for an object. [NIH] Amphetamine: A powerful central nervous system stimulant and sympathomimetic. Amphetamine has multiple mechanisms of action including blocking uptake of adrenergics and dopamine, stimulation of release of monamines, and inhibiting monoamine oxidase. Amphetamine is also a drug of abuse and a psychotomimetic. The l- and the d,l-forms are included here. The l-form has less central nervous system activity but stronger cardiovascular effects. The d-form is dextroamphetamine. [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] Analog: In chemistry, a substance that is similar, but not identical, to another. [NIH] Anatomical: Pertaining to anatomy, or to the structure of the organism. [EU] Anemia: A reduction in the number of circulating erythrocytes or in the quantity of hemoglobin. [NIH] Annealing: The spontaneous alignment of two single DNA strands to form a double helix. [NIH]

Anorexia: Lack or loss of appetite for food. Appetite is psychologic, dependent on memory and associations. Anorexia can be brought about by unattractive food, surroundings, or company. [NIH] Anorexia Nervosa: The chief symptoms are inability to eat, weight loss, and amenorrhea. [NIH]

Antibacterial: A substance that destroys bacteria or suppresses their growth or reproduction. [EU] Antibiotic: A drug used to treat infections caused by bacteria and other microorganisms. [NIH]

Antibody: A type of protein made by certain white blood cells in response to a foreign substance (antigen). Each antibody can bind to only a specific antigen. The purpose of this binding is to help destroy the antigen. Antibodies can work in several ways, depending on the nature of the antigen. Some antibodies destroy antigens directly. Others make it easier for white blood cells to destroy the antigen. [NIH] Antidepressant: A drug used to treat depression. [NIH] Antidiuretic: Suppressing the rate of urine formation. [EU] 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

Dictionary

103

substances, such as toxins and foreign proteins, or particulate, such as bacteria and tissue cells; however, only the portion of the protein or polysaccharide molecule known as the antigenic determinant (q.v.) combines with antibody or a specific receptor on a lymphocyte. Abbreviated Ag. [EU] Anti-inflammatory: Having to do with reducing inflammation. [NIH] Antipsychotic: Effective in the treatment of psychosis. Antipsychotic drugs (called also neuroleptic drugs and major tranquilizers) are a chemically diverse (including phenothiazines, thioxanthenes, butyrophenones, dibenzoxazepines, dibenzodiazepines, and diphenylbutylpiperidines) but pharmacologically similar class of drugs used to treat schizophrenic, paranoid, schizoaffective, and other psychotic disorders; acute delirium and dementia, and manic episodes (during induction of lithium therapy); to control the movement disorders associated with Huntington's chorea, Gilles de la Tourette's syndrome, and ballismus; and to treat intractable hiccups and severe nausea and vomiting. Antipsychotic agents bind to dopamine, histamine, muscarinic cholinergic, a-adrenergic, and serotonin receptors. Blockade of dopaminergic transmission in various areas is thought to be responsible for their major effects : antipsychotic action by blockade in the mesolimbic and mesocortical areas; extrapyramidal side effects (dystonia, akathisia, parkinsonism, and tardive dyskinesia) by blockade in the basal ganglia; and antiemetic effects by blockade in the chemoreceptor trigger zone of the medulla. Sedation and autonomic side effects (orthostatic hypotension, blurred vision, dry mouth, nasal congestion and constipation) are caused by blockade of histamine, cholinergic, and adrenergic receptors. [EU] Antrectomy: An operation to remove the upper portion of the stomach, called the antrum. This operation helps reduce the amount of stomach acid. It is used when a person has complications from ulcers. [NIH] Anus: The opening of the rectum to the outside of the body. [NIH] Anxiety: Persistent feeling of dread, apprehension, and impending disaster. [NIH] Argipressin: Cys-Tyr-Phe-Gln-Asn-Cys-Pro-Arg-Gly-NH2, cyclic 1-6 disulfide. The usual mammalian antidiuretic hormone, it is a cyclic nonapeptide with arginine in position 8 of the chain. Argipressin is used to treat diabetes insipidus and as hemostatic because of its vasoconstrictor action. [NIH] Arterial: Pertaining to an artery or to the arteries. [EU] Arteries: The vessels carrying blood away from the heart. [NIH] Articulation: The relationship of two bodies by means of a moveable joint. [NIH] Assay: Determination of the amount of a particular constituent of a mixture, or of the biological or pharmacological potency of a drug. [EU] Astrocytes: The largest and most numerous neuroglial cells in the brain and spinal cord. Astrocytes (from "star" cells) are irregularly shaped with many long processes, including those with "end feet" which form the glial (limiting) membrane and directly and indirectly contribute to the blood brain barrier. They regulate the extracellular ionic and chemical environment, and "reactive astrocytes" (along with microglia) respond to injury. Astrocytes have high- affinity transmitter uptake systems, voltage-dependent and transmitter-gated ion channels, and can release transmitter, but their role in signaling (as in many other functions) is not well understood. [NIH] Ataxia: Impairment of the ability to perform smoothly coordinated voluntary movements. This condition may affect the limbs, trunk, eyes, pharnyx, larnyx, and other structures. Ataxia may result from impaired sensory or motor function. Sensory ataxia may result from posterior column injury or peripheral nerve diseases. Motor ataxia may be associated with cerebellar diseases; cerebral cortex diseases; thalamic diseases; basal ganglia diseases; injury

104

Prader-Willi Syndrome

to the red nucleus; and other conditions. [NIH] Atrophy: Decrease in the size of a cell, tissue, organ, or multiple organs, associated with a variety of pathological conditions such as abnormal cellular changes, ischemia, malnutrition, or hormonal changes. [NIH] Atypical: Irregular; not conformable to the type; in microbiology, applied specifically to strains of unusual type. [EU] Auditory: Pertaining to the sense of hearing. [EU] Auditory nerve: The eight cranial nerve; also called vestibulocochlear nerve or acoustic nerve. [NIH] Bacteria: Unicellular prokaryotic microorganisms which generally possess rigid cell walls, multiply by cell division, and exhibit three principal forms: round or coccal, rodlike or bacillary, and spiral or spirochetal. [NIH] Basal Ganglia: Large subcortical nuclear masses derived from the telencephalon and located in the basal regions of the cerebral hemispheres. [NIH] Basal Ganglia Diseases: Diseases of the basal ganglia including the putamen; globus pallidus; claustrum; amygdala; and caudate nucleus. Dyskinesias (most notably involuntary movements and alterations of the rate of movement) represent the primary clinical manifestations of these disorders. Common etiologies include cerebrovascular disease; neurodegenerative diseases; and craniocerebral trauma. [NIH] Base: In chemistry, the nonacid part of a salt; a substance that combines with acids to form salts; a substance that dissociates to give hydroxide ions in aqueous solutions; a substance whose molecule or ion can combine with a proton (hydrogen ion); a substance capable of donating a pair of electrons (to an acid) for the formation of a coordinate covalent bond. [EU] 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] Biliopancreatic Diversion: A surgical procedure which diverts pancreatobiliary secretions via the duodenum and the jejunum into the colon, the remaining small intestine being anastomosed to the stomach after antrectomy. The procedure produces less diarrhea than does jejunoileal bypass. [NIH] Biotechnology: Body of knowledge related to the use of organisms, cells or cell-derived constituents for the purpose of developing products which are technically, scientifically and clinically useful. Alteration of biologic function at the molecular level (i.e., genetic engineering) is a central focus; laboratory methods used include transfection and cloning technologies, sequence and structure analysis algorithms, computer databases, and gene and protein structure function analysis and prediction. [NIH] Bladder: The organ that stores urine. [NIH] Blood Glucose: Glucose in blood. [NIH] Blood vessel: A tube in the body through which blood circulates. Blood vessels include a network of arteries, arterioles, capillaries, venules, and veins. [NIH] Body Composition: The relative amounts of various components in the body, such as percent body fat. [NIH] Body Fluids: Liquid components of living organisms. [NIH] Body Mass Index: One of the anthropometric measures of body mass; it has the highest correlation with skinfold thickness or body density. [NIH] Bowel: The long tube-shaped organ in the abdomen that completes the process of digestion.

Dictionary

105

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]

Bypass: A surgical procedure in which the doctor creates a new pathway for the flow of body fluids. [NIH] Calibration: Determination, by measurement or comparison with a standard, of the correct value of each scale reading on a meter or other measuring instrument; or determination of the settings of a control device that correspond to particular values of voltage, current, frequency, or other output. [NIH] Carbohydrates: The largest class of organic compounds, including starches, glycogens, cellulose, gums, and simple sugars. Carbohydrates are composed of carbon, hydrogen, and oxygen in a ratio of Cn(H2O)n. [NIH] Carcinogens: Substances that increase the risk of neoplasms in humans or animals. Both genotoxic chemicals, which affect DNA directly, and nongenotoxic chemicals, which induce neoplasms by other mechanism, are included. [NIH] 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] Catecholamines: A general class of ortho-dihydroxyphenylalkylamines derived from tyrosine. [NIH] Cell: The individual unit that makes up all of the tissues of the body. All living things are made up of one or more cells. [NIH] Cell Division: The fission of a cell. [NIH] Cellulose: A polysaccharide with glucose units linked as in cellobiose. It is the chief constituent of plant fibers, cotton being the purest natural form of the substance. As a raw material, it forms the basis for many derivatives used in chromatography, ion exchange materials, explosives manufacturing, and pharmaceutical preparations. [NIH] Central Nervous System: The main information-processing organs of the nervous system, consisting of the brain, spinal cord, and meninges. [NIH] Cerebellar: Pertaining to the cerebellum. [EU] Cerebral: Of or pertaining of the cerebrum or the brain. [EU] Cerebral Cortex: The thin layer of gray matter on the surface of the cerebral hemisphere that develops from the telencephalon and folds into gyri. It reaches its highest development in man and is responsible for intellectual faculties and higher mental functions. [NIH] 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] Chin: The anatomical frontal portion of the mandible, also known as the mentum, that contains the line of fusion of the two separate halves of the mandible (symphysis menti). This line of fusion divides inferiorly to enclose a triangular area called the mental protuberance. On each side, inferior to the second premolar tooth, is the mental foramen for the passage of blood vessels and a nerve. [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]

106

Prader-Willi Syndrome

Chromosome Abnormalities: Defects in the structure or number of chromosomes resulting in structural aberrations or manifesting as disease. [NIH] Chronic: A disease or condition that persists or progresses over a long period of time. [NIH] Chronic renal: Slow and progressive loss of kidney function over several years, often resulting in end-stage renal disease. People with end-stage renal disease need dialysis or transplantation to replace the work of the kidneys. [NIH] Clinical trial: A research study that tests how well new medical treatments or other interventions work in people. Each study is designed to test new methods of screening, prevention, diagnosis, or treatment of a disease. [NIH] 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] Cocaine: An alkaloid ester extracted from the leaves of plants including coca. It is a local anesthetic and vasoconstrictor and is clinically used for that purpose, particularly in the eye, ear, nose, and throat. It also has powerful central nervous system effects similar to the amphetamines and is a drug of abuse. Cocaine, like amphetamines, acts by multiple mechanisms on brain catecholaminergic neurons; the mechanism of its reinforcing effects is thought to involve inhibition of dopamine uptake. [NIH] Cofactor: A substance, microorganism or environmental factor that activates or enhances the action of another entity such as a disease-causing agent. [NIH] Cognition: Intellectual or mental process whereby an organism becomes aware of or obtains knowledge. [NIH] Colon: The long, coiled, tubelike organ that removes water from digested food. The remaining material, solid waste called stool, moves through the colon to the rectum and leaves the body through the anus. [NIH] Complementation: The production of a wild-type phenotype when two different mutations are combined in a diploid or a heterokaryon and tested in trans-configuration. [NIH] Compulsions: In psychology, an irresistible urge, sometimes amounting to obsession to perform a particular act which usually is carried out against the performer's will or better judgment. [NIH] Compulsive Behavior: The behavior of performing an act persistently and repetitively without it leading to reward or pleasure. The act is usually a small, circumscribed behavior, almost ritualistic, yet not pathologically disturbing. Examples of compulsive behavior include twirling of hair, checking something constantly, not wanting pennies in change, straightening tilted pictures, etc. [NIH] Computational Biology: A field of biology concerned with the development of techniques for the collection and manipulation of biological data, and the use of such data to make biological discoveries or predictions. This field encompasses all computational methods and theories applicable to molecular biology and areas of computer-based techniques for solving biological problems including manipulation of models and datasets. [NIH] Conception: The onset of pregnancy, marked by implantation of the blastocyst; the formation of a viable zygote. [EU] Concomitant: Accompanying; accessory; joined with another. [EU] Connective Tissue: Tissue that supports and binds other tissues. It consists of connective tissue cells embedded in a large amount of extracellular matrix. [NIH] Connective Tissue: Tissue that supports and binds other tissues. It consists of connective

Dictionary

107

tissue cells embedded in a large amount of extracellular matrix. [NIH] Consumption: Pulmonary tuberculosis. [NIH] Contraindications: Any factor or sign that it is unwise to pursue a certain kind of action or treatment, e. g. giving a general anesthetic to a person with pneumonia. [NIH] Control group: In a clinical trial, the group that does not receive the new treatment being studied. This group is compared to the group that receives the new treatment, to see if the new treatment works. [NIH] Controlled study: An experiment or clinical trial that includes a comparison (control) group. [NIH]

Coronary: Encircling in the manner of a crown; a term applied to vessels; nerves, ligaments, etc. The term usually denotes the arteries that supply the heart muscle and, by extension, a pathologic involvement of them. [EU] Coronary Thrombosis: Presence of a thrombus in a coronary artery, often causing a myocardial infarction. [NIH] Cortex: The outer layer of an organ or other body structure, as distinguished from the internal substance. [EU] Cortical: Pertaining to or of the nature of a cortex or bark. [EU] Cranial: Pertaining to the cranium, or to the anterior (in animals) or superior (in humans) end of the body. [EU] Cryptorchidism: A condition in which one or both testicles fail to move from the abdomen, where they develop before birth, into the scrotum. Cryptorchidism may increase the risk for development of testicular cancer. Also called undescended testicles. [NIH] Curative: Tending to overcome disease and promote recovery. [EU] De novo: In cancer, the first occurrence of cancer in the body. [NIH] Deamination: The removal of an amino group (NH2) from a chemical compound. [NIH] Deletion: A genetic rearrangement through loss of segments of DNA (chromosomes), bringing sequences, which are normally separated, into close proximity. [NIH] Delusions: A false belief regarding the self or persons or objects outside the self that persists despite the facts, and is not considered tenable by one's associates. [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] Desmopressin: A synthetic analog of the natural hormone 8-arginine vasopressin (argipressin). Its action is mediated by the vasopressin receptor V2. It has prolonged antidiuretic activity, but little pressor effects. It also modulates levels of circulating factor VIII and von Willebrand factor. [NIH] Diabetes Mellitus: A heterogeneous group of disorders that share glucose intolerance in common. [NIH] Diabetic Retinopathy: Retinopathy associated with diabetes mellitus, which may be of the background type, progressively characterized by microaneurysms, interretinal punctuate macular edema, or of the proliferative type, characterized by neovascularization of the retina and optic disk, which may project into the vitreous, proliferation of fibrous tissue, vitreous hemorrhage, and retinal detachment. [NIH] Diagnostic procedure: A method used to identify a disease. [NIH] Diarrhea: Passage of excessively liquid or excessively frequent stools. [NIH]

108

Prader-Willi Syndrome

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] Dinucleotide Repeats: The most common of the microsatellite tandem repeats (microsatellite repeats) dispersed in the euchromatic arms of chromosomes. They consist of two nucleotides repeated in tandem; guanine and thymine, (GT)n, is the most frequently seen. [NIH] Diploid: Having two sets of chromosomes. [NIH] Direct: 1. Straight; in a straight line. 2. Performed immediately and without the intervention of subsidiary means. [EU] Discrimination: The act of qualitative and/or quantitative differentiation between two or more stimuli. [NIH] Distal: Remote; farther from any point of reference; opposed to proximal. In dentistry, used to designate a position on the dental arch farther from the median line of the jaw. [EU] Diurnal: Occurring during the day. [EU] Dopamine: An endogenous catecholamine and prominent neurotransmitter in several systems of the brain. In the synthesis of catecholamines from tyrosine, it is the immediate precursor to norepinephrine and epinephrine. Dopamine is a major transmitter in the extrapyramidal system of the brain, and important in regulating movement. A family of dopaminergic receptor subtypes mediate its action. Dopamine is used pharmacologically for its direct (beta adrenergic agonist) and indirect (adrenergic releasing) sympathomimetic effects including its actions as an inotropic agent and as a renal vasodilator. [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] Dose-dependent: Refers to the effects of treatment with a drug. If the effects change when the dose of the drug is changed, the effects are said to be dose dependent. [NIH] Drive: A state of internal activity of an organism that is a necessary condition before a given stimulus will elicit a class of responses; e.g., a certain level of hunger (drive) must be present before food will elicit an eating response. [NIH] Drug Interactions: The action of a drug that may affect the activity, metabolism, or toxicity of another drug. [NIH] Drug Tolerance: Progressive diminution of the susceptibility of a human or animal to the effects of a drug, resulting from its continued administration. It should be differentiated from drug resistance wherein an organism, disease, or tissue fails to respond to the intended effectiveness of a chemical or drug. It should also be differentiated from maximum tolerated dose and no-observed-adverse-effect level. [NIH] Duodenum: The first part of the small intestine. [NIH] Dysplasia: Cells that look abnormal under a microscope but are not cancer. [NIH] Dystrophy: Any disorder arising from defective or faulty nutrition, especially the muscular dystrophies. [EU] Ectoderm: The outer of the three germ layers of the embryo. [NIH] Edema: Excessive amount of watery fluid accumulated in the intercellular spaces, most commonly present in subcutaneous tissue. [NIH] Embryo: The prenatal stage of mammalian development characterized by rapid

Dictionary

109

morphological changes and the differentiation of basic structures. [NIH] Enamel: A very hard whitish substance which covers the dentine of the anatomical crown of a tooth. [NIH] Endocrine System: The system of glands that release their secretions (hormones) directly into the circulatory system. In addition to the endocrine glands, included are the chromaffin system and the neurosecretory systems. [NIH] Endocrinology: A subspecialty of internal medicine concerned with the metabolism, physiology, and disorders of the endocrine system. [NIH] End-stage renal: Total chronic kidney failure. When the kidneys fail, the body retains fluid and harmful wastes build up. A person with ESRD needs treatment to replace the work of the failed kidneys. [NIH] Energy balance: Energy is the capacity of a body or a physical system for doing work. Energy balance is the state in which the total energy intake equals total energy needs. [NIH] Enuresis: Involuntary discharge of urine after the age at which urinary control should have been achieved; often used alone with specific reference to involuntary discharge of urine occurring during sleep at night (bed-wetting, nocturnal enuresis). [EU] Environmental Exposure: The exposure to potentially harmful chemical, physical, or biological agents in the environment or to environmental factors that may include ionizing radiation, pathogenic organisms, or toxic chemicals. [NIH] Environmental Health: The science of controlling or modifying those conditions, influences, or forces surrounding man which relate to promoting, establishing, and maintaining health. [NIH]

Enzymatic: Phase where enzyme cuts the precursor protein. [NIH] Enzyme: A protein that speeds up chemical reactions in the body. [NIH] 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] Erythrocytes: Red blood cells. Mature erythrocytes are non-nucleated, biconcave disks containing hemoglobin whose function is to transport oxygen. [NIH] Esophagus: The muscular tube through which food passes from the throat to the stomach. [NIH]

Esotropia: A form of ocular misalignment characterized by an excessive convergence of the visual axes, resulting in a "cross-eye" appearance. An example of this condition occurs when paralysis of the lateral rectus muscle causes an abnormal inward deviation of one eye on attempted gaze. [NIH] Essential Tremor: A rhythmic, involuntary, purposeless, oscillating movement resulting from the alternate contraction and relaxation of opposing groups of muscles. [NIH] Eukaryotic Cells: Cells of the higher organisms, containing a true nucleus bounded by a nuclear membrane. [NIH] Evoked Potentials: The electric response evoked in the central nervous system by stimulation of sensory receptors or some point on the sensory pathway leading from the receptor to the cortex. The evoked stimulus can be auditory, somatosensory, or visual, although other modalities have been reported. Event-related potentials is sometimes used synonymously with evoked potentials but is often associated with the execution of a motor, cognitive, or psychophysiological task, as well as with the response to a stimulus. [NIH]

110

Prader-Willi Syndrome

Exogenous: Developed or originating outside the organism, as exogenous disease. [EU] Exotropia: A form of ocular misalignment where the visual axes diverge inappropriately. For example, medial rectus muscle weakness may produce this condition as the affected eye will deviate laterally upon attempted forward gaze. An exotropia occurs due to the relatively unopposed force exerted on the eye by the lateral rectus muscle, which pulls the eye in an outward direction. [NIH] Facial: Of or pertaining to the face. [EU] Failure to Thrive: A condition in which an infant or child's weight gain and growth are far below usual levels for age. [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] Fathers: Male parents, human or animal. [NIH] Fetal Alcohol Syndrome: A disorder occurring in children born to alcoholic women who continue to drink heavily during pregnancy. Common abnormalities are growth deficiency (prenatal and postnatal), altered morphogenesis, mental deficiency, and characteristic facies - small eyes and flattened nasal bridge. Fine motor dysfunction and tremulousness are observed in the newborn. [NIH] Fetal Blood: Blood of the fetus. Exchange of nutrients and waste between the fetal and maternal blood occurs via the placenta. The cord blood is blood contained in the umbilical vessels at the time of delivery. [NIH] Fetus: The developing offspring from 7 to 8 weeks after conception until birth. [NIH] Fibrosis: Any pathological condition where fibrous connective tissue invades any organ, usually as a consequence of inflammation or other injury. [NIH] 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] Fluoxetine: The first highly specific serotonin uptake inhibitor. It is used as an antidepressant and often has a more acceptable side-effects profile than traditional antidepressants. [NIH] Fluvoxamine: A selective serotonin reuptake inhibitor. It is effective in the treatment of depression, obsessive-compulsive disorders, anxiety, panic disorders, and alcohol amnestic disorders. [NIH] Food Preferences: The selection of one food over another. [NIH] Foramen: A natural hole of perforation, especially one in a bone. [NIH] Gallbladder: The pear-shaped organ that sits below the liver. Bile is concentrated and stored in the gallbladder. [NIH] Ganglion: 1. A knot, or knotlike mass. 2. A general term for a group of nerve cell bodies located outside the central nervous system; occasionally applied to certain nuclear groups within the brain or spinal cord, e.g. basal ganglia. 3. A benign cystic tumour occurring on a aponeurosis or tendon, as in the wrist or dorsum of the foot; it consists of a thin fibrous capsule enclosing a clear mucinous fluid. [EU] Gas: Air that comes from normal breakdown of food. The gases are passed out of the body through the rectum (flatus) or the mouth (burp). [NIH] Gas exchange: Primary function of the lungs; transfer of oxygen from inhaled air into the

Dictionary

111

blood and of carbon dioxide from the blood into the lungs. [NIH] Gastrin: A hormone released after eating. Gastrin causes the stomach to produce more acid. [NIH]

Gastroplasty: Surgical treatment of the stomach or lower esophagus used to decrease the size of the stomach. The procedure is used mainly in the treatment of morbid obesity and to correct defects in the lower esophagus or the stomach. Different procedures employed include vertical (mesh) banded gastroplasty, silicone elastomer ring vertical gastroplasty and horizontal banded gastroplasty. [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] 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 Cells: The reproductive cells in multicellular organisms. [NIH] Gland: An organ that produces and releases one or more substances for use in the body. Some glands produce fluids that affect tissues or organs. Others produce hormones or participate in blood production. [NIH] Glomeruli: Plural of glomerulus. [NIH] Glomerulosclerosis: Scarring of the glomeruli. It may result from diabetes mellitus (diabetic glomerulosclerosis) or from deposits in parts of the glomerulus (focal segmental glomerulosclerosis). The most common signs of glomerulosclerosis are proteinuria and kidney failure. [NIH] Glomerulus: A tiny set of looping blood vessels in the nephron where blood is filtered in the kidney. [NIH] Glucose: D-Glucose. A primary source of energy for living organisms. It is naturally occurring and is found in fruits and other parts of plants in its free state. It is used therapeutically in fluid and nutrient replacement. [NIH] Glucose Intolerance: A pathological state in which the fasting plasma glucose level is less than 140 mg per deciliter and the 30-, 60-, or 90-minute plasma glucose concentration following a glucose tolerance test exceeds 200 mg per deciliter. This condition is seen frequently in diabetes mellitus but also occurs with other diseases. [NIH] Gonad: A sex organ, such as an ovary or a testicle, which produces the gametes in most multicellular animals. [NIH] Gonadal: Pertaining to a gonad. [EU] Governing Board: The group in which legal authority is vested for the control of healthrelated institutions and organizations. [NIH] Group Homes: Housing for groups of patients, children, or others who need or desire emotional or physical support. They are usually established as planned, single housekeeping units in residential dwellings that provide care and supervision for small

112

Prader-Willi Syndrome

groups of residents, who, although unrelated, live together as a family. [NIH] Growth: The progressive development of a living being or part of an organism from its earliest stage to maturity. [NIH] Guanine: One of the four DNA bases. [NIH] Haematoma: A localized collection of blood, usually clotted, in an organ, space, or tissue, due to a break in the wall of a blood vessel. [EU] Haemorrhage: The escape of blood from the vessels; bleeding. Small haemorrhages are classified according to size as petechiae (very small), purpura (up to 1 cm), and ecchymoses (larger). The massive accumulation of blood within a tissue is called a haematoma. [EU] Hemoglobin: One of the fractions of glycosylated hemoglobin A1c. Glycosylated hemoglobin is formed when linkages of glucose and related monosaccharides bind to hemoglobin A and its concentration represents the average blood glucose level over the previous several weeks. HbA1c levels are used as a measure of long-term control of plasma glucose (normal, 4 to 6 percent). In controlled diabetes mellitus, the concentration of glycosylated hemoglobin A is within the normal range, but in uncontrolled cases the level may be 3 to 4 times the normal conentration. Generally, complications are substantially lower among patients with Hb levels of 7 percent or less than in patients with HbA1c levels of 9 percent or more. [NIH] Hemoglobinuria: The presence of free hemoglobin in the urine. [NIH] 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] Heterotropia: One in which the angle of squint remains relatively unaltered on conjugate movement of the eyes. [NIH] Histology: The study of tissues and cells under a microscope. [NIH] Homeostasis: The processes whereby the internal environment of an organism tends to remain balanced and stable. [NIH] Homologous: Corresponding in structure, position, origin, etc., as (a) the feathers of a bird and the scales of a fish, (b) antigen and its specific antibody, (c) allelic chromosomes. [EU] Hormonal: Pertaining to or of the nature of a hormone. [EU] Hormone: A substance in the body that regulates certain organs. Hormones such as gastrin help in breaking down food. Some hormones come from cells in the stomach and small intestine. [NIH] Hormone therapy: Treatment of cancer by removing, blocking, or adding hormones. Also called endocrine therapy. [NIH] Housekeeping: The care and management of property. [NIH] Human Development: Continuous sequential changes which occur in the physiological and psychological functions during the individual's life. [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]

Dictionary

113

Hyperphagia: Ingestion of a greater than optimal quantity of food. [NIH] Hypogonadism: Condition resulting from or characterized by abnormally decreased functional activity of the gonads, with retardation of growth and sexual development. [NIH] Hypothalamic: Of or involving the hypothalamus. [EU] Hypothalamus: Ventral part of the diencephalon extending from the region of the optic chiasm to the caudal border of the mammillary bodies and forming the inferior and lateral walls of the third ventricle. [NIH] Hypothermia: Lower than normal body temperature, especially in warm-blooded animals; in man usually accidental or unintentional. [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] Hypotonia: A condition of diminished tone of the skeletal muscles; diminished resistance of muscles to passive stretching. [EU] Id: The part of the personality structure which harbors the unconscious instinctive desires and strivings of the individual. [NIH] Immunodeficiency: The decreased ability of the body to fight infection and disease. [NIH] Impairment: In the context of health experience, an impairment is any loss or abnormality of psychological, physiological, or anatomical structure or function. [NIH] 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] Incision: A cut made in the body during surgery. [NIH] Infancy: The period of complete dependency prior to the acquisition of competence in walking, talking, and self-feeding. [NIH] 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] Infusion: A method of putting fluids, including drugs, into the bloodstream. Also called

114

Prader-Willi Syndrome

intravenous infusion. [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] Interstitial: Pertaining to or situated between parts or in the interspaces of a tissue. [EU] Intestinal: Having to do with the intestines. [NIH] Intoxication: Poisoning, the state of being poisoned. [EU] 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]

Involuntary: Reaction occurring without intention or volition. [NIH] Ischemia: Deficiency of blood in a part, due to functional constriction or actual obstruction of a blood vessel. [EU] Jejunoileal Bypass: A surgical procedure consisting of the anastomosis of the proximal part of the jejunum to the distal portion of the ileum, so as to bypass the nutrient-absorptive segment of the small intestine, to treat morbid obesity. [NIH] Jejunum: That portion of the small intestine which extends from the duodenum to the ileum; called also intestinum jejunum. [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] Kidney Disease: Any one of several chronic conditions that are caused by damage to the cells of the kidney. People who have had diabetes for a long time may have kidney damage. Also called nephropathy. [NIH] Lactation: The period of the secretion of milk. [EU] Language Development: The gradual expansion in complexity and meaning of symbols and sounds as perceived and interpreted by the individual through a maturational and learning process. Stages in development include babbling, cooing, word imitation with cognition, and use of short sentences. [NIH] Large Intestine: The part of the intestine that goes from the cecum to the rectum. The large intestine absorbs water from stool and changes it from a liquid to a solid form. The large intestine is 5 feet long and includes the appendix, cecum, colon, and rectum. Also called colon. [NIH] Leptin: A 16-kD peptide hormone secreted from white adipocytes and implicated in the regulation of food intake and energy balance. Leptin provides the key afferent signal from fat cells in the feedback system that controls body fat stores. [NIH]

Dictionary

115

Lethargy: Abnormal drowsiness or stupor; a condition of indifference. [EU] Leukemia: Cancer of blood-forming tissue. [NIH] Library Services: Services offered to the library user. They include reference and circulation. [NIH]

Ligament: A band of fibrous tissue that connects bones or cartilages, serving to support and strengthen joints. [EU] 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] Localized: Cancer which has not metastasized yet. [NIH] Lymphoid: Referring to lymphocytes, a type of white blood cell. Also refers to tissue in which lymphocytes develop. [NIH] Lymphoma: A general term for various neoplastic diseases of the lymphoid tissue. [NIH] Magnetic Resonance Imaging: Non-invasive method of demonstrating internal anatomy based on the principle that atomic nuclei in a strong magnetic field absorb pulses of radiofrequency energy and emit them as radiowaves which can be reconstructed into computerized images. The concept includes proton spin tomographic techniques. [NIH] Malabsorption: Impaired intestinal absorption of nutrients. [EU] Malignant: Cancerous; a growth with a tendency to invade and destroy nearby tissue and spread to other parts of the body. [NIH] Malnutrition: A condition caused by not eating enough food or not eating a balanced diet. [NIH]

Mania: Excitement of psychotic proportions manifested by mental and physical hyperactivity, disorganization of behaviour, and elevation of mood. [EU] Manic: Affected with mania. [EU] Manic-depressive psychosis: One of a group of psychotic reactions, fundamentally marked by severe mood swings and a tendency to remission and recurrence. [NIH] Manifest: Being the part or aspect of a phenomenon that is directly observable : concretely expressed in behaviour. [EU] Mazindol: Tricyclic anorexigenic agent unrelated to and less toxic than amphetamine, but with some similar side effects. It inhibits uptake of catecholamines and blocks the binding of cocaine to the dopamine uptake transporter. [NIH] Meatus: A canal running from the internal auditory foramen through the petrous portion of the temporal bone. It gives passage to the facial and auditory nerves together with the auditory branch of the basilar artery and the internal auditory veins. [NIH] MEDLINE: An online database of MEDLARS, the computerized bibliographic Medical Literature Analysis and Retrieval System of the National Library of Medicine. [NIH] Melanocytes: Epidermal dendritic pigment cells which control long-term morphological color changes by alteration in their number or in the amount of pigment they produce and store in the pigment containing organelles called melanosomes. Melanophores are larger cells which do not exist in mammals. [NIH] Melanoma: A form of skin cancer that arises in melanocytes, the cells that produce pigment. Melanoma usually begins in a mole. [NIH] Membrane: A very thin layer of tissue that covers a surface. [NIH] Memory: Complex mental function having four distinct phases: (1) memorizing or learning,

116

Prader-Willi Syndrome

(2) retention, (3) recall, and (4) recognition. Clinically, it is usually subdivided into immediate, recent, and remote memory. [NIH] Mental: Pertaining to the mind; psychic. 2. (L. mentum chin) pertaining to the chin. [EU] Mental deficiency: A condition of arrested or incomplete development of mind from inherent causes or induced by disease or injury. [NIH] Mental Disorders: Psychiatric illness or diseases manifested by breakdowns in the adaptational process expressed primarily as abnormalities of thought, feeling, and behavior producing either distress or impairment of function. [NIH] Mental Retardation: Refers to sub-average general intellectual functioning which originated during the developmental period and is associated with impairment in adaptive behavior. [NIH]

Metabolic disorder: A condition in which normal metabolic processes are disrupted, usually because of a missing enzyme. [NIH] MI: Myocardial infarction. Gross necrosis of the myocardium as a result of interruption of the blood supply to the area; it is almost always caused by atherosclerosis of the coronary arteries, upon which coronary thrombosis is usually superimposed. [NIH] Microbiology: The study of microorganisms such as fungi, bacteria, algae, archaea, and viruses. [NIH] Microglia: The third type of glial cell, along with astrocytes and oligodendrocytes (which together form the macroglia). Microglia vary in appearance depending on developmental stage, functional state, and anatomical location; subtype terms include ramified, perivascular, ameboid, resting, and activated. Microglia clearly are capable of phagocytosis and play an important role in a wide spectrum of neuropathologies. They have also been suggested to act in several other roles including in secretion (e.g., of cytokines and neural growth factors), in immunological processing (e.g., antigen presentation), and in central nervous system development and remodeling. [NIH] Microsatellite Repeats: A variety of simple di- (dinucleotide repeats), tri- (trinucleotide repeats), tetra-, and pentanucleotide tandem repeats (usually less than 100 bases long). They are dispersed in the euchromatic arms of most chromosomes. [NIH] Midwifery: The practice of assisting women in childbirth. [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] Monoamine: Enzyme that breaks down dopamine in the astrocytes and microglia. [NIH] Monoamine Oxidase: An enzyme that catalyzes the oxidative deamination of naturally occurring monoamines. It is a flavin-containing enzyme that is localized in mitochondrial membranes, whether in nerve terminals, the liver, or other organs. Monoamine oxidase is important in regulating the metabolic degradation of catecholamines and serotonin in neural or target tissues. Hepatic monoamine oxidase has a crucial defensive role in inactivating circulating monoamines or those, such as tyramine, that originate in the gut and are absorbed into the portal circulation. (From Goodman and Gilman's, The Pharmacological Basis of Therapeutics, 8th ed, p415) EC 1.4.3.4. [NIH]

Dictionary

117

Morphogenesis: The development of the form of an organ, part of the body, or organism. [NIH]

Mucins: A secretion containing mucopolysaccharides and protein that is the chief constituent of mucus. [NIH] Muscle Fibers: Large single cells, either cylindrical or prismatic in shape, that form the basic unit of muscle tissue. They consist of a soft contractile substance enclosed in a tubular sheath. [NIH] Muscular Atrophy: Derangement in size and number of muscle fibers occurring with aging, reduction in blood supply, or following immobilization, prolonged weightlessness, malnutrition, and particularly in denervation. [NIH] Muscular Dystrophies: A general term for a group of inherited disorders which are characterized by progressive degeneration of skeletal muscles. [NIH] Mutilation: Injuries to the body. [NIH] Myocardium: The muscle tissue of the heart composed of striated, involuntary muscle known as cardiac muscle. [NIH] Myopathy: Any disease of a muscle. [EU] Myotonic Dystrophy: A condition presenting muscle weakness and wasting which may be progressive. [NIH] Naloxone: A specific opiate antagonist that has no agonist activity. It is a competitive antagonist at mu, delta, and kappa opioid receptors. [NIH] NCI: National Cancer Institute. NCI, part of the National Institutes of Health of the United States Department of Health and Human Services, is the federal government's principal agency for cancer research. NCI conducts, coordinates, and funds cancer research, training, health information dissemination, and other programs with respect to the cause, diagnosis, prevention, and treatment of cancer. Access the NCI Web site at http://cancer.gov. [NIH] Need: A state of tension or dissatisfaction felt by an individual that impels him to action toward a goal he believes will satisfy the impulse. [NIH] Neoplasia: Abnormal and uncontrolled cell growth. [NIH] Neoplastic: Pertaining to or like a neoplasm (= any new and abnormal growth); pertaining to neoplasia (= the formation of a neoplasm). [EU] Nephropathy: Disease of the kidneys. [EU] Nerve: A cordlike structure of nervous tissue that connects parts of the nervous system with other tissues of the body and conveys nervous impulses to, or away from, these tissues. [NIH] Neural: 1. Pertaining to a nerve or to the nerves. 2. Situated in the region of the spinal axis, as the neutral arch. [EU] Neural Crest: A strip of specialized ectoderm flanking each side of the embryonal neural plate, which after the closure of the neural tube, forms a column of isolated cells along the dorsal aspect of the neural tube. Most of the cranial and all of the spinal sensory ganglion cells arise by differentiation of neural crest cells. [NIH] Neuropeptide: A member of a class of protein-like molecules made in the brain. Neuropeptides consist of short chains of amino acids, with some functioning as neurotransmitters and some functioning as hormones. [NIH] Neurotransmitters: Endogenous signaling molecules that alter the behavior of neurons or effector cells. Neurotransmitter is used here in its most general sense, including not only messengers that act directly to regulate ion channels, but also those that act through second messenger systems, and those that act at a distance from their site of release. Included are

118

Prader-Willi Syndrome

neuromodulators, neuroregulators, neuromediators, and neurohumors, whether or not acting at synapses. [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] 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] Obsession: A recurrent, persistent thought, image, or impulse that is unwanted and distressing (ego-dystonic) and comes involuntarily to mind despite attempts to ignore or suppress it. Common obsessions involve thoughts of violence, contamination, and selfdoubt. [EU] Obsessive-Compulsive Disorder: An anxiety disorder characterized by recurrent, persistent obsessions or compulsions. Obsessions are the intrusive ideas, thoughts, or images that are experienced as senseless or repugnant. Compulsions are repetitive and seemingly purposeful behavior which the individual generally recognizes as senseless and from which the individual does not derive pleasure although it may provide a release from tension. [NIH] Occupational Therapy: The field concerned with utilizing craft or work activities in the rehabilitation of patients. Occupational therapy can also refer to the activities themselves. [NIH]

Ointments: Semisolid preparations used topically for protective emollient effects or as a vehicle for local administration of medications. Ointment bases are various mixtures of fats, waxes, animal and plant oils and solid and liquid hydrocarbons. [NIH] Oncogene: A gene that normally directs cell growth. If altered, an oncogene can promote or allow the uncontrolled growth of cancer. Alterations can be inherited or caused by an environmental exposure to carcinogens. [NIH] Opacity: Degree of density (area most dense taken for reading). [NIH] Opiate: A remedy containing or derived from opium; also any drug that induces sleep. [EU] Optic Disk: The portion of the optic nerve seen in the fundus with the ophthalmoscope. It is formed by the meeting of all the retinal ganglion cell axons as they enter the optic nerve. [NIH]

Oral Health: The optimal state of the mouth and normal functioning of the organs of the mouth without evidence of disease. [NIH] Oral Hygiene: The practice of personal hygiene of the mouth. It includes the maintenance of oral cleanliness, tissue tone, and general preservation of oral health. [NIH] Ossification: The formation of bone or of a bony substance; the conversion of fibrous tissue or of cartilage into bone or a bony substance. [EU] Osteochondrodysplasias: Abnormal development of cartilage and bone. [NIH] Osteogenesis: The histogenesis of bone including ossification. It occurs continuously but

Dictionary

119

particularly in the embryo and child and during fracture repair. [NIH] Ovaries: The pair of female reproductive glands in which the ova, or eggs, are formed. The ovaries are located in the pelvis, one on each side of the uterus. [NIH] Overdose: An accidental or deliberate dose of a medication or street drug that is in excess of what is normally used. [NIH] Oxytocin: A nonapeptide posterior pituitary hormone that causes uterine contractions and stimulates lactation. [NIH] Paediatric: Of or relating to the care and medical treatment of children; belonging to or concerned with paediatrics. [EU] Palliative: 1. Affording relief, but not cure. 2. An alleviating medicine. [EU] Pancreas: A mixed exocrine and endocrine gland situated transversely across the posterior abdominal wall in the epigastric and hypochondriac regions. The endocrine portion is comprised of the Islets of Langerhans, while the exocrine portion is a compound acinar gland that secretes digestive enzymes. [NIH] Pancreatic: Having to do with the pancreas. [NIH] Pancreatic cancer: Cancer of the pancreas, a salivary gland of the abdomen. [NIH] Pancreatic Polypeptide: A 36-amino acid polypeptide with physiological regulatory functions. It is secreted by pancreatic tissue. Plasma pancreatic polypeptide increases after ingestion of food, with age, and in disease states. A lack of pancreatic polypeptide in the islets of Langerhans has been associated with the obese syndrome in rats and mice. [NIH] Panic: A state of extreme acute, intense anxiety and unreasoning fear accompanied by disorganization of personality function. [NIH] Panic Disorder: A type of anxiety disorder characterized by unexpected panic attacks that last minutes or, rarely, hours. Panic attacks begin with intense apprehension, fear or terror and, often, a feeling of impending doom. Symptoms experienced during a panic attack include dyspnea or sensations of being smothered; dizziness, loss of balance or faintness; choking sensations; palpitations or accelerated heart rate; shakiness; sweating; nausea or other form of abdominal distress; depersonalization or derealization; paresthesias; hot flashes or chills; chest discomfort or pain; fear of dying and fear of not being in control of oneself or going crazy. Agoraphobia may also develop. Similar to other anxiety disorders, it may be inherited as an autosomal dominant trait. [NIH] Paraffin: A mixture of solid hydrocarbons obtained from petroleum. It has a wide range of uses including as a stiffening agent in ointments, as a lubricant, and as a topical antiinflammatory. It is also commonly used as an embedding material in histology. [NIH] Paroxysmal: Recurring in paroxysms (= spasms or seizures). [EU] Pathogenesis: The cellular events and reactions that occur in the development of disease. [NIH]

Pathologist: A doctor who identifies diseases by studying cells and tissues under a microscope. [NIH] Patient Advocacy: Promotion and protection of the rights of patients, frequently through a legal process. [NIH] Patient Education: The teaching or training of patients concerning their own health needs. [NIH]

Pelvic: Pertaining to the pelvis. [EU] Pelvis: The lower part of the abdomen, located between the hip bones. [NIH] Peptide: Any compound consisting of two or more amino acids, the building blocks of

120

Prader-Willi Syndrome

proteins. Peptides are combined to make proteins. [NIH] Petechiae: Pinpoint, unraised, round red spots under the skin caused by bleeding. [NIH] Petroleum: Naturally occurring complex liquid hydrocarbons which, after distillation, yield combustible fuels, petrochemicals, and lubricants. [NIH] Pharmacologic: Pertaining to pharmacology or to the properties and reactions of drugs. [EU] Phenotype: The outward appearance of the individual. It is the product of interactions between genes and between the genotype and the environment. This includes the killer phenotype, characteristic of yeasts. [NIH] Phospholipids: Lipids containing one or more phosphate groups, particularly those derived from either glycerol (phosphoglycerides; glycerophospholipids) or sphingosine (sphingolipids). They are polar lipids that are of great importance for the structure and function of cell membranes and are the most abundant of membrane lipids, although not stored in large amounts in the system. [NIH] Physical Therapy: The restoration of function and the prevention of disability following disease or injury with the use of light, heat, cold, water, electricity, ultrasound, and exercise. [NIH]

Physiologic: Having to do with the functions of the body. When used in the phrase "physiologic age," it refers to an age assigned by general health, as opposed to calendar age. [NIH]

Physiology: The science that deals with the life processes and functions of organismus, their cells, tissues, and organs. [NIH] Placenta: A highly vascular fetal organ through which the fetus absorbs oxygen and other nutrients and excretes carbon dioxide and other wastes. It begins to form about the eighth day of gestation when the blastocyst adheres to the decidua. [NIH] Placental tissue: The tissue intervening between fetal blood and maternal blood in the placenta; it acts as a selective membrane regulating the passage of substances from the maternal to the fetal blood. [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] Pneumonia: Inflammation of the lungs. [NIH] Polycystic: An inherited disorder characterized by many grape-like clusters of fluid-filled cysts that make both kidneys larger over time. These cysts take over and destroy working kidney tissue. PKD may cause chronic renal failure and end-stage renal disease. [NIH] Polymerase: An enzyme which catalyses the synthesis of DNA using a single DNA strand as a template. The polymerase copies the template in the 5'-3'direction provided that sufficient quantities of free nucleotides, dATP and dTTP are present. [NIH] Polymerase Chain Reaction: In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). The essential steps include thermal denaturation of the double-stranded target molecules, annealing of the primers to their complementary sequences, and extension of the annealed primers by enzymatic synthesis with DNA polymerase. The reaction is efficient, specific, and extremely sensitive. Uses for

Dictionary

121

the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships. [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] Postnatal: Occurring after birth, with reference to the newborn. [EU] Practice Guidelines: Directions or principles presenting current or future rules of policy for the health care practitioner to assist him in patient care decisions regarding diagnosis, therapy, or related clinical circumstances. The guidelines may be developed by government agencies at any level, institutions, professional societies, governing boards, or by the convening of expert panels. The guidelines form a basis for the evaluation of all aspects of health care and delivery. [NIH] Prenatal: Existing or occurring before birth, with reference to the fetus. [EU] Prevalence: The total number of cases of a given disease in a specified population at a designated time. It is differentiated from incidence, which refers to the number of new cases in the population at a given time. [NIH] Progressive: Advancing; going forward; going from bad to worse; increasing in scope or severity. [EU] Prostate: A gland in males that surrounds the neck of the bladder and the urethra. It secretes a substance that liquifies coagulated semen. It is situated in the pelvic cavity behind the lower part of the pubic symphysis, above the deep layer of the triangular ligament, and rests upon the rectum. [NIH] Protein S: The vitamin K-dependent cofactor of activated protein C. Together with protein C, it inhibits the action of factors VIIIa and Va. A deficiency in protein S can lead to recurrent venous and arterial thrombosis. [NIH] Proteins: Polymers of amino acids linked by peptide bonds. The specific sequence of amino acids determines the shape and function of the protein. [NIH] Proteinuria: The presence of protein in the urine, indicating that the kidneys are not working properly. [NIH] Proximal: Nearest; closer to any point of reference; opposed to distal. [EU] Psychiatric: Pertaining to or within the purview of psychiatry. [EU] Psychiatry: The medical science that deals with the origin, diagnosis, prevention, and treatment of mental disorders. [NIH] Psychic: Pertaining to the psyche or to the mind; mental. [EU] Psychology: The science dealing with the study of mental processes and behavior in man and animals. [NIH] Psychosis: A mental disorder characterized by gross impairment in reality testing as evidenced by delusions, hallucinations, markedly incoherent speech, or disorganized and agitated behaviour without apparent awareness on the part of the patient of the incomprehensibility of his behaviour; the term is also used in a more general sense to refer to mental disorders in which mental functioning is sufficiently impaired as to interfere grossly with the patient's capacity to meet the ordinary demands of life. Historically, the term has been applied to many conditions, e.g. manic-depressive psychosis, that were first described in psychotic patients, although many patients with the disorder are not judged psychotic. [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]

122

Prader-Willi Syndrome

Pulmonary: Relating to the lungs. [NIH] Purpura: Purplish or brownish red discoloration, easily visible through the epidermis, caused by hemorrhage into the tissues. [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] Reality Testing: The individual's objective evaluation of the external world and the ability to differentiate adequately between it and the internal world; considered to be a primary ego function. [NIH] Receptor: A molecule inside or on the surface of a cell that binds to a specific substance and causes a specific physiologic effect in the cell. [NIH] Rectum: The last 8 to 10 inches of the large intestine. [NIH] Red Nucleus: A pinkish-yellow portion of the midbrain situated in the rostral mesencephalic tegmentum. It receives a large projection from the contralateral half of the cerebellum via the superior cerebellar peduncle and a projection from the ipsilateral motor cortex. [NIH] Refer: To send or direct for treatment, aid, information, de decision. [NIH] Refraction: A test to determine the best eyeglasses or contact lenses to correct a refractive error (myopia, hyperopia, or astigmatism). [NIH] Respiratory Physiology: Functions and activities of the respiratory tract as a whole or of any of its parts. [NIH] Restoration: Broad term applied to any inlay, crown, bridge or complete denture which restores or replaces loss of teeth or oral tissues. [NIH] Retina: The ten-layered nervous tissue membrane of the eye. It is continuous with the optic nerve and receives images of external objects and transmits visual impulses to the brain. Its outer surface is in contact with the choroid and the inner surface with the vitreous body. The outer-most layer is pigmented, whereas the inner nine layers are transparent. [NIH] 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] Retinoblastoma: An eye cancer that most often occurs in children younger than 5 years. It occurs in hereditary and nonhereditary (sporadic) forms. [NIH] Risk factor: A habit, trait, condition, or genetic alteration that increases a person's chance of developing a disease. [NIH] Risperidone: A selective blocker of dopamine D2 and serotonin-5-HT-2 receptors that acts as an atypical antipsychotic agent. It has been shown to improve both positive and negative symptoms in the treatment of schizophrenia. [NIH] Saliva: The clear, viscous fluid secreted by the salivary glands and mucous glands of the mouth. It contains mucins, water, organic salts, and ptylin. [NIH] Salivary: The duct that convey saliva to the mouth. [NIH]

Dictionary

123

Salivary glands: Glands in the mouth that produce saliva. [NIH] Schizophrenia: A mental disorder characterized by a special type of disintegration of the personality. [NIH] Sclerosis: A pathological process consisting of hardening or fibrosis of an anatomical structure, often a vessel or a nerve. [NIH] Screening: Checking for disease when there are no symptoms. [NIH] Scrotum: In males, the external sac that contains the testicles. [NIH] Secretion: 1. The process of elaborating a specific product as a result of the activity of a gland; this activity may range from separating a specific substance of the blood to the elaboration of a new chemical substance. 2. Any substance produced by secretion. [EU] Segmental: Describing or pertaining to a structure which is repeated in similar form in successive segments of an organism, or which is undergoing segmentation. [NIH] Segmentation: The process by which muscles in the intestines move food and wastes through the body. [NIH] Seizures: Clinical or subclinical disturbances of cortical function due to a sudden, abnormal, excessive, and disorganized discharge of brain cells. Clinical manifestations include abnormal motor, sensory and psychic phenomena. Recurrent seizures are usually referred to as epilepsy or "seizure disorder." [NIH] Self-Help Groups: Organizations which provide an environment encouraging social interactions through group activities or individual relationships especially for the purpose of rehabilitating or supporting patients, individuals with common health problems, or the elderly. They include therapeutic social clubs. [NIH] Self-Injurious Behavior: Behavior in which persons hurt or harm themselves without the motive of suicide or of sexual deviation. [NIH] Semen: The thick, yellowish-white, viscid fluid secretion of male reproductive organs discharged upon ejaculation. In addition to reproductive organ secretions, it contains spermatozoa and their nutrient plasma. [NIH] Sensibility: The ability to receive, feel and appreciate sensations and impressions; the quality of being sensitive; the extend to which a method gives results that are free from false negatives. [NIH] Sequencing: The determination of the order of nucleotides in a DNA or RNA chain. [NIH] Serotonin: A biochemical messenger and regulator, synthesized from the essential amino acid L-tryptophan. In humans it is found primarily in the central nervous system, gastrointestinal tract, and blood platelets. Serotonin mediates several important physiological functions including neurotransmission, gastrointestinal motility, hemostasis, and cardiovascular integrity. Multiple receptor families (receptors, serotonin) explain the broad physiological actions and distribution of this biochemical mediator. [NIH] Serum: The clear liquid part of the blood that remains after blood cells and clotting proteins have been removed. [NIH] Sex Characteristics: Those characteristics that distinguish one sex from the other. The primary sex characteristics are the ovaries and testes and their related hormones. Secondary sex characteristics are those which are masculine or feminine but not directly related to reproduction. [NIH] Sex Determination: The biological characteristics which distinguish human beings as female or male. [NIH] Side effect: A consequence other than the one(s) for which an agent or measure is used, as

124

Prader-Willi Syndrome

the adverse effects produced by a drug, especially on a tissue or organ system other than the one sought to be benefited by its administration. [EU] Skeletal: Having to do with the skeleton (boney part of the body). [NIH] Skeleton: The framework that supports the soft tissues of vertebrate animals and protects many of their internal organs. The skeletons of vertebrates are made of bone and/or cartilage. [NIH] Skull: The skeleton of the head including the bones of the face and the bones enclosing the brain. [NIH] Small intestine: The part of the digestive tract that is located between the stomach and the large intestine. [NIH] Somatic: 1. Pertaining to or characteristic of the soma or body. 2. Pertaining to the body wall in contrast to the viscera. [EU] Specialist: In medicine, one who concentrates on 1 special branch of medical science. [NIH] Spectrum: A charted band of wavelengths of electromagnetic vibrations obtained by refraction and diffraction. By extension, a measurable range of activity, such as the range of bacteria affected by an antibiotic (antibacterial s.) or the complete range of manifestations of a disease. [EU] Speech pathologist: A specialist who evaluates and treats people with communication and swallowing problems. Also called a speech therapist. [NIH] Sperm: The fecundating fluid of the male. [NIH] Sporadic: Neither endemic nor epidemic; occurring occasionally in a random or isolated manner. [EU] Stimulus: That which can elicit or evoke action (response) in a muscle, nerve, gland or other excitable issue, or cause an augmenting action upon any function or metabolic process. [NIH] 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] Stool: The waste matter discharged in a bowel movement; feces. [NIH] Strabismus: Deviation of the eye which the patient cannot overcome. The visual axes assume a position relative to each other different from that required by the physiological conditions. The various forms of strabismus are spoken of as tropias, their direction being indicated by the appropriate prefix, as cyclo tropia, esotropia, exotropia, hypertropia, and hypotropia. Called also cast, heterotropia, manifest deviation, and squint. [EU] 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] Subcutaneous: Beneath the skin. [NIH] Substance P: An eleven-amino acid neurotransmitter that appears in both the central and peripheral nervous systems. It is involved in transmission of pain, causes rapid contractions of the gastrointestinal smooth muscle, and modulates inflammatory and immune responses. [NIH]

Support group: A group of people with similar disease who meet to discuss how better to cope with their cancer and treatment. [NIH]

Dictionary

125

Symphysis: A secondary cartilaginous joint. [NIH] Synapse: The region where the processes of two neurons come into close contiguity, and the nervous impulse passes from one to the other; the fibers of the two are intermeshed, but, according to the general view, there is no direct contiguity. [NIH] Telangiectasia: The permanent enlargement of blood vessels, causing redness in the skin or mucous membranes. [NIH] Temporal: One of the two irregular bones forming part of the lateral surfaces and base of the skull, and containing the organs of hearing. [NIH] Testicles: The two egg-shaped glands found inside the scrotum. They produce sperm and male hormones. Also called testes. [NIH] Testicular: Pertaining to a testis. [EU] Testis: Either of the paired male reproductive glands that produce the male germ cells and the male hormones. [NIH] Thalamic: Cell that reaches the lateral nucleus of amygdala. [NIH] Thalamic Diseases: Disorders of the centrally located thalamus, which integrates a wide range of cortical and subcortical information. Manifestations include sensory loss, movement disorders; ataxia, pain syndromes, visual disorders, a variety of neuropsychological conditions, and coma. Relatively common etiologies include cerebrovascular disorders; craniocerebral trauma; brain neoplasms; brain hypoxia; intracranial hemorrhages; and infectious processes. [NIH] 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] Thermoregulation: Heat regulation. [EU] 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] 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] Tissue: A group or layer of cells that are alike in type and work together to perform a specific function. [NIH] Tolerance: 1. The ability to endure unusually large doses of a drug or toxin. 2. Acquired drug tolerance; a decreasing response to repeated constant doses of a drug or the need for increasing doses to maintain a constant response. [EU] Tone: 1. The normal degree of vigour and tension; in muscle, the resistance to passive elongation or stretch; tonus. 2. A particular quality of sound or of voice. 3. To make permanent, or to change, the colour of silver stain by chemical treatment, usually with a heavy metal. [EU] Tonus: A state of slight tension usually present in muscles even when they are not undergoing active contraction. [NIH] Topical: On the surface of the body. [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

126

Prader-Willi Syndrome

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] Toxin: A poison; frequently used to refer specifically to a protein produced by some higher plants, certain animals, and pathogenic bacteria, which is highly toxic for other living organisms. Such substances are differentiated from the simple chemical poisons and the vegetable alkaloids by their high molecular weight and antigenicity. [EU] Trachea: The cartilaginous and membranous tube descending from the larynx and branching into the right and left main bronchi. [NIH] Tracheotomy: Surgical incision of the trachea. [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] Trisomy: The possession of a third chromosome of any one type in an otherwise diploid cell. [NIH]

Tuberous Sclerosis: A rare congenital disease in which the essential pathology is the appearance of multiple tumors in the cerebrum and in other organs, such as the heart or kidneys. [NIH] Tyramine: An indirect sympathomimetic. Tyramine does not directly activate adrenergic receptors, but it can serve as a substrate for adrenergic uptake systems and monoamine oxidase so it prolongs the actions of adrenergic transmitters. It also provokes transmitter release from adrenergic terminals. Tyramine may be a neurotransmitter in some invertebrate nervous systems. [NIH] Unconscious: Experience which was once conscious, but was subsequently rejected, as the "personal unconscious". [NIH] Urethra: The tube through which urine leaves the body. It empties urine from the bladder. [NIH]

Urinary: Having to do with urine or the organs of the body that produce and get rid of urine. [NIH] Urine: Fluid containing water and waste products. Urine is made by the kidneys, stored in the bladder, and leaves the body through the urethra. [NIH] Uterine Contraction: Contraction of the uterine muscle. [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] Vein: Vessel-carrying blood from various parts of the body to the heart. [NIH] Venous: Of or pertaining to the veins. [EU] Ventilation: 1. In respiratory physiology, the process of exchange of air between the lungs and the ambient air. Pulmonary ventilation (usually measured in litres per minute) refers to the total exchange, whereas alveolar ventilation refers to the effective ventilation of the alveoli, in which gas exchange with the blood takes place. 2. In psychiatry, verbalization of one's emotional problems. [EU] Veterinary Medicine: The medical science concerned with the prevention, diagnosis, and treatment of diseases in animals. [NIH] Vitreous: Glasslike or hyaline; often used alone to designate the vitreous body of the eye (corpus vitreum). [EU]

Dictionary

127

Vitreous Hemorrhage: Hemorrhage into the vitreous body. [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] Weight Gain: Increase in body weight over existing weight. [NIH] X-ray: High-energy radiation used in low doses to diagnose diseases and in high doses to treat cancer. [NIH] Yeasts: A general term for single-celled rounded fungi that reproduce by budding. Brewers' and bakers' yeasts are Saccharomyces cerevisiae; therapeutic dried yeast is dried yeast. [NIH]

129

INDEX A Abdomen, 101, 104, 107, 115, 119, 124 Abdominal, 101, 119 Acoustic, 6, 101, 104 Adipocytes, 17, 101, 114 Adipose Tissue, 42, 47, 101 Adolescence, 87, 101 Adrenergic, 9, 101, 103, 108, 109, 126 Adverse Effect, 101, 124 Aerobic, 9, 101 Afferent, 101, 114 Affinity, 101, 103 Agonist, 22, 101, 108, 117 Algorithms, 101, 104 Alternative medicine, 66, 101 Alveoli, 102, 126 Amenorrhea, 102 Amino acid, 102, 117, 119, 121, 123, 124 Amnestic, 102, 110 Amphetamine, 102, 115 Anaesthesia, 6, 35, 102 Analog, 102, 107 Anatomical, 102, 105, 109, 113, 116, 123 Anemia, 81, 102 Annealing, 102, 120 Anorexia, 6, 102 Anorexia Nervosa, 6, 102 Antibacterial, 102, 124 Antibiotic, 102, 124 Antibody, 101, 102, 112, 113 Antidepressant, 102, 110 Antidiuretic, 102, 103, 107 Antigen, 101, 102, 112, 113, 116 Anti-inflammatory, 103, 119 Antipsychotic, 103, 122 Antrectomy, 103, 104 Anus, 103, 105, 106 Anxiety, 103, 110, 118, 119 Argipressin, 103, 107 Arterial, 103, 121 Arteries, 103, 104, 107, 116 Articulation, 7, 85, 103 Assay, 19, 103 Astrocytes, 103, 116 Ataxia, 80, 81, 103, 125 Atrophy, 80, 104 Atypical, 7, 8, 104, 122 Auditory, 104, 109, 115

Auditory nerve, 104, 115 B Bacteria, 102, 103, 104, 116, 124, 126 Basal Ganglia, 103, 104, 110 Basal Ganglia Diseases, 103, 104 Base, 104, 107, 114, 125 Basilar Artery, 104, 115 Biliopancreatic Diversion, 20, 40, 104 Biotechnology, 4, 66, 77, 79, 80, 81, 85, 104 Bladder, 104, 121, 126 Blood Glucose, 104, 112, 114 Blood vessel, 104, 105, 111, 112, 114, 124, 125 Body Composition, 9, 14, 17, 18, 19, 24, 25, 30, 34, 44, 104 Body Fluids, 104, 105 Body Mass Index, 23, 43, 104 Bowel, 104, 105, 108, 124 Bowel Movement, 105, 108, 124 Branch, 95, 105, 115, 124, 125 Bypass, 9, 23, 105, 114 C Calibration, 42, 105 Carbohydrates, 3, 105 Carcinogens, 105, 118 Case report, 6, 14, 20, 21, 36, 50, 51, 105 Catecholamines, 105, 108, 115, 116 Cell, 28, 80, 81, 101, 104, 105, 110, 115, 116, 117, 118, 120, 122, 125, 126 Cell Division, 80, 104, 105, 120 Cellulose, 105, 120 Central Nervous System, 102, 105, 106, 109, 110, 116, 123 Cerebellar, 103, 105, 122 Cerebral, 103, 104, 105, 109 Cerebral Cortex, 103, 105 Cerebrum, 105, 126 Chin, 105, 116 Chromosomal, 21, 105 Chromosome, 5, 7, 12, 15, 16, 19, 21, 29, 30, 32, 33, 35, 42, 43, 47, 56, 57, 58, 98, 105, 106, 126 Chromosome Abnormalities, 42, 57, 106 Chronic, 80, 98, 106, 109, 113, 114, 120 Chronic renal, 106, 120 Clinical trial, 4, 57, 58, 77, 106, 107 Cloning, 104, 106 Cocaine, 106, 115

130

Prader-Willi Syndrome

Cofactor, 106, 121 Cognition, 12, 18, 106, 114 Colon, 80, 104, 106, 114 Complementation, 34, 106 Compulsions, 38, 106, 118 Compulsive Behavior, 18, 106 Computational Biology, 77, 79, 106 Conception, 106, 110 Concomitant, 36, 106 Connective Tissue, 106, 110 Consumption, 3, 107 Contraindications, ii, 107 Control group, 17, 107 Controlled study, 8, 24, 45, 107 Coronary, 107, 116 Coronary Thrombosis, 107, 116 Cortex, 107, 109, 122 Cortical, 5, 107, 123, 125 Cranial, 104, 107, 117 Cryptorchidism, 5, 107 Curative, 107, 125 D De novo, 14, 20, 34, 107 Deamination, 107, 116 Deletion, 8, 13, 15, 20, 29, 33, 34, 40, 41, 44, 57, 58, 107, 111 Delusions, 107, 121 Denaturation, 107, 120 Density, 14, 104, 107, 118 Desmopressin, 48, 107 Diabetes Mellitus, 14, 37, 51, 107, 111, 112 Diabetic Retinopathy, 27, 107 Diagnostic procedure, 66, 107 Diarrhea, 104, 107 Digestive system, 59, 108 Dinucleotide Repeats, 35, 108, 116 Diploid, 48, 106, 108, 120, 126 Direct, iii, 32, 108, 122, 125 Discrimination, 32, 108 Distal, 108, 114, 121 Diurnal, 5, 108 Dopamine, 102, 103, 106, 108, 115, 116, 122 Dorsal, 108, 117, 121 Dose-dependent, 44, 108 Drive, ii, vi, 25, 33, 49, 108 Drug Interactions, 70, 108 Drug Tolerance, 108, 125 Duodenum, 104, 108, 114, 124 Dysplasia, 81, 108 Dystrophy, 62, 80, 87, 88, 108 E Ectoderm, 108, 117

Edema, 107, 108 Embryo, 108, 119 Enamel, 3, 109 Endocrine System, 109 Endocrinology, 9, 10, 12, 17, 18, 24, 25, 26, 27, 28, 32, 34, 37, 43, 47, 109 End-stage renal, 106, 109, 120 Energy balance, 109, 114 Enuresis, 48, 109 Environmental Exposure, 109, 118 Environmental Health, 51, 76, 78, 109 Enzymatic, 102, 109, 120, 122 Enzyme, 109, 116, 120, 127 Epinephrine, 101, 108, 109, 118 Erythrocytes, 102, 109 Esophagus, 108, 109, 111, 124 Esotropia, 109, 124 Essential Tremor, 80, 109 Eukaryotic Cells, 109, 113 Evoked Potentials, 48, 109 Exogenous, 33, 110 Exotropia, 110, 124 F Facial, 110, 115 Failure to Thrive, 87, 110 Family Planning, 77, 110 Fat, 17, 24, 44, 47, 101, 104, 110, 114, 115 Fathers, 38, 110 Fetal Alcohol Syndrome, 8, 62, 110 Fetal Blood, 110, 120 Fetus, 5, 110, 120, 121, 126 Fibrosis, 81, 110, 123 Fluorescence, 15, 22, 110 Fluoxetine, 6, 20, 36, 39, 110 Fluvoxamine, 6, 110 Food Preferences, 51, 110 Foramen, 105, 110, 115 G Gallbladder, 101, 108, 110 Ganglion, 110, 117, 118 Gas, 110, 112, 126 Gas exchange, 110, 126 Gastrin, 111, 112 Gastroplasty, 50, 111 Gene, 9, 20, 21, 23, 28, 29, 30, 34, 37, 56, 57, 58, 81, 82, 104, 111, 118 Gene Deletion, 28, 57, 111 Genetic testing, 111, 121 Genotype, 57, 58, 111, 120 Germ Cells, 111, 125 Gland, 111, 119, 121, 123, 124, 125 Glomeruli, 111

Index

Glomerulosclerosis, 22, 111 Glomerulus, 111 Glucose, 24, 25, 80, 98, 104, 105, 107, 111, 112, 114 Glucose Intolerance, 107, 111 Gonad, 111 Gonadal, 28, 111 Governing Board, 111, 121 Group Homes, 50, 111 Guanine, 108, 112 H Haematoma, 112 Haemorrhage, 37, 112 Hemoglobin, 102, 109, 112 Hemoglobinuria, 80, 112 Hemorrhage, 112, 122, 124, 127 Hereditary, 112, 122 Heredity, 33, 111, 112 Heterotropia, 112, 124 Histology, 112, 119 Homeostasis, 24, 25, 112 Homologous, 20, 30, 112 Hormonal, 26, 104, 112 Hormone therapy, 10, 11, 16, 19, 24, 25, 50, 51, 112 Housekeeping, 111, 112 Human Development, 45, 57, 76, 85, 112 Hydrogen, 104, 105, 107, 112, 116 Hyperphagia, 26, 27, 87, 113 Hypogonadism, 3, 27, 87, 113 Hypothalamic, 28, 31, 113 Hypothalamus, 113 Hypothermia, 5, 28, 113 Hypothyroidism, 13, 113 Hypotonia, 3, 37, 87, 97, 113 I Id, 53, 80, 87, 94, 96, 113 Immunodeficiency, 80, 113 Impairment, 29, 34, 103, 113, 116, 121 In situ, 15, 29, 35, 113 In Situ Hybridization, 15, 29, 35, 113 Incision, 113, 114, 126 Infancy, 15, 87, 113 Infarction, 107, 113, 116 Infection, 113 Inflammation, 103, 110, 113, 120 Infusion, 51, 113 Ingestion, 113, 114, 119 Insulin, 17, 25, 27, 30, 37, 43, 114 Insulin-dependent diabetes mellitus, 27, 114 Internal Medicine, 51, 109, 114

131

Interstitial, 20, 114 Intestinal, 114, 115 Intoxication, 48, 114 Intravenous, 114 Invasive, 114, 115 Involuntary, 104, 109, 114, 117 Ischemia, 104, 114 J Jejunoileal Bypass, 104, 114 Jejunum, 104, 114 Joint, 103, 114, 125 K Kb, 76, 114 Kidney Disease, 59, 76, 81, 114 L Lactation, 114, 119 Language Development, 85, 114 Large Intestine, 108, 114, 122, 124 Leptin, 13, 14, 17, 30, 32, 42, 114 Lethargy, 113, 115 Leukemia, 36, 80, 115 Library Services, 94, 115 Ligament, 115, 121 Lipid, 114, 115 Liver, 101, 108, 110, 115, 116 Localized, 112, 113, 115, 116, 120 Lymphoid, 115 Lymphoma, 80, 115 M Magnetic Resonance Imaging, 42, 115 Malabsorption, 80, 115 Malignant, 80, 115 Malnutrition, 104, 115, 117 Mania, 115 Manic, 33, 103, 115, 121 Manic-depressive psychosis, 115, 121 Manifest, 115, 124 Mazindol, 50, 115 Meatus, 9, 115 MEDLINE, 77, 79, 81, 115 Melanocytes, 115 Melanoma, 80, 115 Membrane, 103, 109, 115, 120, 122 Memory, 102, 115 Mental, iv, 3, 4, 7, 8, 13, 17, 33, 41, 59, 76, 78, 82, 105, 106, 110, 113, 115, 116, 121, 123 Mental deficiency, 110, 116 Mental Disorders, 59, 116, 121 Mental Retardation, 3, 7, 8, 13, 17, 33, 82, 116 Metabolic disorder, 27, 116

132

Prader-Willi Syndrome

MI, 28, 99, 116 Microbiology, 104, 116 Microglia, 103, 116 Microsatellite Repeats, 108, 116 Midwifery, 61, 116 Molecular, 5, 10, 12, 20, 21, 22, 29, 30, 32, 34, 35, 46, 50, 56, 58, 77, 79, 104, 106, 116, 126 Molecule, 103, 104, 116, 122 Monitor, 116, 118 Monoamine, 31, 102, 116, 126 Monoamine Oxidase, 31, 102, 116, 126 Morphogenesis, 110, 117 Mucins, 117, 122 Muscle Fibers, 117 Muscular Atrophy, 80, 117 Muscular Dystrophies, 108, 117 Mutilation, 27, 117 Myocardium, 116, 117 Myopathy, 6, 117 Myotonic Dystrophy, 80, 117 N Naloxone, 36, 50, 117 NCI, 1, 58, 75, 117 Need, 3, 61, 62, 70, 71, 89, 101, 106, 111, 117, 125 Neoplasia, 36, 80, 117 Neoplastic, 115, 117 Nephropathy, 27, 114, 117 Nerve, 101, 103, 104, 105, 110, 116, 117, 118, 122, 123, 124 Neural, 39, 101, 116, 117 Neural Crest, 39, 117 Neuropeptide, 11, 117 Neurotransmitters, 117 Norepinephrine, 101, 108, 118 Nuclear, 15, 104, 109, 110, 118 Nuclei, 115, 118 Nucleic acid, 113, 118 O Obsession, 106, 118 Obsessive-Compulsive Disorder, 110, 118 Occupational Therapy, 62, 118 Ointments, 118, 119 Oncogene, 80, 118 Opacity, 107, 118 Opiate, 117, 118 Optic Disk, 107, 118 Oral Health, 118 Oral Hygiene, 3, 118 Ossification, 118 Osteochondrodysplasias, 48, 118

Osteogenesis, 62, 118 Ovaries, 87, 119, 123 Overdose, 48, 119 Oxytocin, 11, 119 P Paediatric, 6, 35, 37, 119 Palliative, 119, 125 Pancreas, 51, 101, 108, 114, 119 Pancreatic, 10, 51, 80, 119 Pancreatic cancer, 80, 119 Pancreatic Polypeptide, 10, 51, 119 Panic, 110, 119 Panic Disorder, 110, 119 Paraffin, 42, 119 Paroxysmal, 80, 119 Pathogenesis, 32, 50, 119 Pathologist, 85, 119 Patient Advocacy, 87, 119 Patient Education, 85, 92, 94, 99, 119 Pelvic, 119, 121 Pelvis, 101, 119, 126 Peptide, 102, 114, 119, 121, 125 Petechiae, 112, 120 Petroleum, 119, 120 Pharmacologic, 120, 126 Phenotype, 5, 13, 15, 20, 21, 41, 57, 58, 106, 111, 120 Phospholipids, 110, 120 Physical Therapy, 62, 120 Physiologic, 101, 120, 122 Physiology, 28, 109, 120 Placenta, 110, 120 Placental tissue, 42, 120 Plants, 106, 111, 118, 120, 126 Plasma, 17, 18, 42, 111, 112, 119, 120, 123 Pneumonia, 107, 120 Polycystic, 81, 120 Polymerase, 19, 42, 120 Polymerase Chain Reaction, 19, 42, 120 Posterior, 103, 104, 108, 119, 121 Postnatal, 110, 121 Practice Guidelines, 78, 121 Prenatal, 21, 42, 108, 110, 121 Prevalence, 9, 41, 121 Progressive, 27, 106, 108, 112, 117, 121 Prostate, 80, 121 Protein S, 81, 104, 121 Proteins, 102, 103, 116, 120, 121, 123 Proteinuria, 111, 121 Proximal, 58, 108, 114, 121 Psychiatric, 41, 51, 116, 121

Index

Psychiatry, 7, 8, 11, 23, 31, 36, 38, 41, 42, 43, 50, 51, 121, 126 Psychic, 116, 121, 123 Psychology, 7, 38, 45, 51, 106, 121 Psychosis, 12, 103, 121 Public Policy, 77, 121 Pulmonary, 18, 50, 107, 122, 126 Purpura, 112, 122 R Radiation, 109, 110, 122, 127 Radioactive, 112, 118, 122 Reality Testing, 121, 122 Receptor, 9, 21, 22, 33, 42, 103, 107, 108, 109, 122, 123 Rectum, 103, 105, 106, 108, 110, 114, 121, 122 Red Nucleus, 104, 122 Refer, 1, 118, 121, 122, 126 Refraction, 122, 124 Respiratory Physiology, 33, 122, 126 Restoration, 120, 122 Retina, 107, 122 Retinal, 107, 118, 122 Retinoblastoma, 80, 122 Risk factor, 11, 41, 122 Risperidone, 28, 43, 122 S Saliva, 3, 122, 123 Salivary, 108, 119, 122, 123 Salivary glands, 108, 122, 123 Schizophrenia, 122, 123 Sclerosis, 8, 80, 123 Screening, 106, 123 Scrotum, 107, 123, 125 Secretion, 3, 6, 24, 50, 51, 113, 114, 116, 117, 123 Segmental, 22, 111, 123 Segmentation, 123 Seizures, 119, 123 Self-Help Groups, 62, 87, 123 Self-Injurious Behavior, 57, 123 Semen, 121, 123 Sensibility, 102, 123 Sequencing, 121, 123 Serotonin, 103, 110, 116, 122, 123 Serum, 14, 30, 43, 123 Sex Characteristics, 101, 123 Sex Determination, 81, 123 Side effect, 69, 71, 101, 103, 115, 123, 125 Skeletal, 98, 113, 117, 124 Skeleton, 114, 124 Skull, 52, 124, 125

133

Small intestine, 104, 108, 112, 114, 124 Somatic, 101, 124 Specialist, 88, 124 Spectrum, 12, 41, 116, 124 Speech pathologist, 62, 124 Sperm, 105, 124, 125 Sporadic, 122, 124 Stimulus, 108, 109, 124 Stomach, 101, 103, 104, 108, 109, 111, 112, 124 Stool, 106, 114, 124 Strabismus, 3, 39, 48, 124 Strand, 120, 124 Stress, 4, 20, 124 Stroke, 58, 59, 76, 124 Subcutaneous, 101, 108, 124 Substance P, 123, 124 Support group, 87, 124 Symphysis, 105, 121, 125 Synapse, 101, 125 T Telangiectasia, 81, 125 Temporal, 115, 125 Testicles, 98, 107, 123, 125 Testicular, 107, 125 Testis, 29, 125 Thalamic, 103, 125 Thalamic Diseases, 103, 125 Therapeutics, 70, 116, 125 Thermal, 120, 125 Thermoregulation, 13, 125 Thrombosis, 121, 124, 125 Thyroid, 113, 125 Thyrotropin, 113, 125 Tissue, 101, 103, 104, 106, 107, 108, 112, 114, 115, 117, 118, 119, 120, 122, 124, 125 Tolerance, 98, 111, 125 Tone, 97, 113, 118, 125 Tonus, 125 Topical, 119, 125 Toxic, iv, 109, 115, 125, 126 Toxicity, 108, 125 Toxicology, 78, 126 Toxin, 125, 126 Trachea, 125, 126 Tracheotomy, 33, 126 Transfection, 104, 126 Translocation, 8, 19, 20, 22, 34, 38, 41, 46, 126 Trisomy, 7, 15, 32, 42, 126 Tuberous Sclerosis, 81, 126 Tyramine, 116, 126

134

Prader-Willi Syndrome

U Unconscious, 113, 126 Urethra, 121, 126 Urinary, 109, 126 Urine, 102, 104, 109, 112, 121, 126 Uterine Contraction, 119, 126 Uterus, 119, 126 V Vein, 114, 118, 126 Venous, 121, 126 Ventilation, 25, 126

Veterinary Medicine, 77, 126 Vitreous, 107, 122, 126, 127 Vitreous Hemorrhage, 107, 127 Vitro, 120, 127 W Weight Gain, 16, 50, 110, 127 X X-ray, 110, 118, 127 Y Yeasts, 120, 127

Index

135

136

Prader-Willi Syndrome

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

Cyclic Vomiting Syndrome: A Medical Dictionary, Bibliography, And Annotated Research Guide To Internet References

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

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

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

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

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

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

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

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

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

Gulf War Syndrome: A Medical Dictionary, Bibliography, and Annotated Research Guide to Internet References

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

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

Asperger's Syndrome: A Medical Dictionary, Bibliography, and Annotated Research Guide to Internet References

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

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

Dumping Syndrome: A Medical Dictionary, Bibliography, And Annotated Research Guide To Internet References

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

Sudden Infant Death Syndrome - A Medical Dictionary, Bibliography, and Annotated Research Guide to Internet References

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

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

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

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

Nail Patella Syndrome: A Medical Dictionary, Bibliography, And Annotated Research Guide To Internet References

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

Lesch Nyhan Syndrome: A Medical Dictionary, Bibliography, And Annotated Research Guide To Internet References

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

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

Reye's Syndrome - A Medical Dictionary, Bibliography, and Annotated Research Guide to Internet References

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

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

Cyclic Vomiting Syndrome: A Medical Dictionary, Bibliography, And Annotated Research Guide To Internet References

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

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

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

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

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

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

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

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

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

Gulf War Syndrome: A Medical Dictionary, Bibliography, and Annotated Research Guide to Internet References

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

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

Asperger's Syndrome: A Medical Dictionary, Bibliography, and Annotated Research Guide to Internet References

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

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

Dumping Syndrome: A Medical Dictionary, Bibliography, And Annotated Research Guide To Internet References

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

Sudden Infant Death Syndrome - A Medical Dictionary, Bibliography, and Annotated Research Guide to Internet References

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

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

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

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

Nail Patella Syndrome: A Medical Dictionary, Bibliography, And Annotated Research Guide To Internet References

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

Lesch Nyhan Syndrome: A Medical Dictionary, Bibliography, And Annotated Research Guide To Internet References

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

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

Reye's Syndrome - A Medical Dictionary, Bibliography, and Annotated Research Guide to Internet References

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

Recommend Documents