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Author :
Publisher :
ISBN 13 :
Total Pages : 68 pages
Book Rating : 4.:/5 (17 download)
Download or read book THE PRADER-LABHART-WILLI SYNDROME written by and published by . This book was released on 1982 with total page 68 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Author : Henry G. Dunn
Publisher :
ISBN 13 :
Total Pages : 38 pages
Book Rating : 4.:/5 (462 download)
Download or read book The Prader-Labhart-Willi syndrome: review of the literature and report of nine cases written by Henry G. Dunn and published by . This book was released on 1968 with total page 38 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Author : Suzanne B. Cassidy
Publisher : John Wiley & Sons
ISBN 13 : 1118210670
Total Pages : 1678 pages
Book Rating : 4.1/5 (182 download)
Download or read book Management of Genetic Syndromes written by Suzanne B. Cassidy and published by John Wiley & Sons. This book was released on 2011-09-20 with total page 1678 pages. Available in PDF, EPUB and Kindle. Book excerpt: The bestselling guide to the medical management of common genetic syndromes —now fully revised and expanded A review in the American Journal of Medical Genetics heralded the first edition of Management of Genetic Syndromes as an "unparalleled collection of knowledge." Since publication of the first edition, improvements in the molecular diagnostic testing of genetic conditions have greatly facilitated the identification of affected individuals. This thorough revision of the critically acclaimed bestseller offers original insights into the medical management of sixty common genetic syndromes seen in children and adults, and incorporates new research findings and the latest advances in diagnosis and treatment of these disorders. Expanded to cover five new syndromes, this comprehensive new edition also features updates of chapters from the previous editions. Each chapter is written by an expert with extensive direct professional experience with that disorder and incorporates thoroughly updated material on new genetic findings, consensus diagnostic criteria, and management strategies. Edited by two of the field's most highly esteemed experts, this landmark volume provides: A precise reference of the physical manifestations of common genetic syndromes, clearly written for professionals and families Extensive updates, particularly in sections on diagnostic criteria and diagnostic testing, pathogenesis, and management A tried-and-tested, user-friendly format, with each chapter including information on incidence, etiology and pathogenesis, diagnostic criteria and testing, and differential diagnosis Up-to-date and well-written summaries of the manifestations followed by comprehensive management guidelines, with specific advice on evaluation and treatment for each system affected, including references to original studies and reviews A list of family support organizations and resources for professionals and families Management of Genetic Syndromes, Third Edition is a premier source to guide family physicians, pediatricians, internists, medical geneticists, and genetic counselors in the clinical evaluation and treatment of syndromes. It is also the reference of choice for ancillary health professionals, educators, and families of affected individuals looking to understand appropriate guidelines for the management of these disorders. From a review of the first edition: "An unparalleled collection of knowledge . . . unique, offering a gold mine of information." —American Journal of Medical Genetics
Author : Merlin Butler
Publisher : Springer Science & Business Media
ISBN 13 : 0387335366
Total Pages : 569 pages
Book Rating : 4.3/5 (873 download)
Download or read book Management of Prader-Willi Syndrome written by Merlin Butler and published by Springer Science & Business Media. This book was released on 2006-10-11 with total page 569 pages. Available in PDF, EPUB and Kindle. Book excerpt: Management of Prader-Willi Syndrome brings together the contributions of professionals with considerable expertise in diagnosis and management of PWS. Clinical, social, family, and community issues are explored and management strategies identified. The text presents historical, medical, and genetic information to orient the reader. The major portion deals with pragmatic guidelines, rather than research and diagnosis, and is directed to health and educational specialists in academic, clinical, and community settings. This manual is endorsed by The Prader-Willi Syndrome Association, which is recognized world-wide.
Author : Louise R. Greenswag
Publisher : Springer Science & Business Media
ISBN 13 : 1468403168
Total Pages : 293 pages
Book Rating : 4.4/5 (684 download)
Download or read book Management of Prader-Willi Syndrome written by Louise R. Greenswag and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 293 pages. Available in PDF, EPUB and Kindle. Book excerpt: Management of Prader-Willi Syndrome is the first book to provide a comprehensive source of knowledge about Prader-Willi Syndrome and to offer common-sense guidelines for management. It consists of contributions from professionals in many health and allied disciplines who have worked with this special population. The book focuses on clinical, social, familial, and community issues related to care. It is directed to health, education, and other specialists in academic, clinical, and community settings. Management of Prader-Willi Syndrome describes strategies for management which are appropriate to an interdisciplinary approach.
Author : E.F. Pfeiffer
Publisher : Springer-Verlag
ISBN 13 : 3642476694
Total Pages : 1411 pages
Book Rating : 4.6/5 (424 download)
Download or read book Pathophysiologie und Klinik written by E.F. Pfeiffer and published by Springer-Verlag. This book was released on 2013-07-02 with total page 1411 pages. Available in PDF, EPUB and Kindle. Book excerpt: Mit Beiträgen zahlreicher Fachwissenschaftler
Author : Alex F. Robertson
Publisher :
ISBN 13 :
Total Pages : 28 pages
Book Rating : 4.:/5 (73 download)
Download or read book The Prader-Labhart-Willi Syndrome written by Alex F. Robertson and published by . This book was released on 1967 with total page 28 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Author : Henry G. Dunn
Publisher :
ISBN 13 :
Total Pages : 38 pages
Book Rating : 4.:/5 (764 download)
Download or read book The Prader-Labhart-Willi Syndrome written by Henry G. Dunn and published by . This book was released on 1968 with total page 38 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Author : John C. Carey
Publisher : John Wiley & Sons
ISBN 13 : 1119432677
Total Pages : 1104 pages
Book Rating : 4.1/5 (194 download)
Download or read book Cassidy and Allanson's Management of Genetic Syndromes written by John C. Carey and published by John Wiley & Sons. This book was released on 2021-01-27 with total page 1104 pages. Available in PDF, EPUB and Kindle. Book excerpt: MANAGEMENT OF GENETIC SYNDROMES THE MOST RECENT UPDATE TO ONE OF THE MOST ESSENTIAL REFERENCES ON MEDICAL GENETICS Cassidy and Allanson’s Management of Genetic Syndromes, Fourth Edition is the latest version of a classic text in medical genetics. With newly covered disorders and cutting-edge, up-to-date information, this resource remains the most crucial reference on the management of genetic syndromes in the field of medical genetics for students, clinicians, caregivers, and researchers. The fourth edition includes current information on the identification of genetic syndromes (including newly developed diagnostic criteria), the genetic basis (including diagnostic testing), and the routine care and management for more than 60 genetic disorders. Written by experts, each chapter includes sections on: Incidence Diagnostic criteria Etiology, pathogenesis and genetics Diagnostic testing Differential diagnosis Manifestations and Management (by system) The book focuses on genetic syndromes, primarily those involving developmental disabilities and congenital defects. The chapter sections dealing with Manifestations and Management represents the centerpiece of each entry and is unmatched by other genetic syndrome references. Management of Genetic Syndromes is perfect for medical geneticists, genetic counselors, primary care physicians and all healthcare professionals seeking to stay current on the routine care and management of individuals with genetic disorders.
Author : Urs Eiholzer
Publisher : Karger Medical and Scientific Publishers
ISBN 13 : 3805578466
Total Pages : 121 pages
Book Rating : 4.8/5 (55 download)
Download or read book Das Prader-Willi-Syndrom written by Urs Eiholzer and published by Karger Medical and Scientific Publishers. This book was released on 2005-01-01 with total page 121 pages. Available in PDF, EPUB and Kindle. Book excerpt: Annotation Over the past years, research into the Prader-Willi syndrome (PWS) and its treatment options has progressed enormously and new insights have greatly improved the quality of life of those affected. For many years, Urs Eiholzer has been engaged in the care of children with PWS and their families. He has published a great number of seminal scientific articles and contributions and supports a comprehensive, integrated treatment approach, taking into account both the biological and the psychological aspects of the syndrome. This easily understandable book is specifically suited for non-professionals and presents the clinical picture of the syndrome, its genetic cause, state-of-the-art research results and treatment options as used in the author's out-patient clinic. The text is illustrated with graphics and complemented by an abundance of pictures. This publication addresses not only the family members of the affected children, but also those who have contact with them - from the neighbor to the pediatrician.
Author : Vanja A. Holm
Publisher :
ISBN 13 :
Total Pages : 376 pages
Book Rating : 4.3/5 (91 download)
Download or read book The Prader-Willi Syndrome written by Vanja A. Holm and published by . This book was released on 1981 with total page 376 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Author : Osama Naga
Publisher : Springer
ISBN 13 : 3319101153
Total Pages : 611 pages
Book Rating : 4.3/5 (191 download)
Download or read book Pediatric Board Study Guide written by Osama Naga and published by Springer. This book was released on 2015-03-27 with total page 611 pages. Available in PDF, EPUB and Kindle. Book excerpt: Covers the most frequently asked and tested points on the pediatric board exam. Each chapter offers a quick review of specific diseases and conditions clinicians need to know during the patient encounter. Easy-to-use and comprehensive, clinicians will find this guide to be the ideal final resource needed before taking the pediatric board exam.
Author : Sally Radovick
Publisher : Springer Science & Business Media
ISBN 13 : 1607613956
Total Pages : 616 pages
Book Rating : 4.6/5 (76 download)
Download or read book Pediatric Endocrinology written by Sally Radovick and published by Springer Science & Business Media. This book was released on 2013-02-20 with total page 616 pages. Available in PDF, EPUB and Kindle. Book excerpt: A state-of-the-art and concise guide to the clinical management of pediatric endocrine disorders, the second edition of the highly regarded Pediatric Endocrinology: A Practical Clinical Guide covers the most common and challenging conditions seen by practicing endocrinologists and primary care physicians, including growth, hypothalamic, pituitary, adrenal, thyroid, calcium and bone, and reproductive disorders, as well as metabolic syndromes. This expanded second edition includes new topics being seen more commonly in pediatric endocrinology practices related to obesity and type 2 diabetes mellitus and lipid disorders. Each chapter contains an introductory discussion of the problem, a review of the clinical features that characterize it, the criteria needed to establish a diagnosis, and a comprehensive therapy section delineating the risks and benefits of the best therapeutic options available. Invaluable tables summarize the critical factors in etiology, clinical presentation, diagnosis, and therapeutic dosages. Pediatric Endocrinology: A Practical Clinical Guide, Second Edition, is a comprehensive resource for all clinicians concerned with the myriad endocrinologic disorders seen in children and adolescents.
Author : Merlin G. Butler
Publisher : Springer Nature
ISBN 13 : 3030981711
Total Pages : 539 pages
Book Rating : 4.0/5 (39 download)
Download or read book Management of Prader-Willi Syndrome written by Merlin G. Butler and published by Springer Nature. This book was released on 2022-10-10 with total page 539 pages. Available in PDF, EPUB and Kindle. Book excerpt: Now in a fully revised and updated fourth edition, this book remains the most comprehensive resource on Prader-Willi syndrome (PWS) available on the market. There have been significant changes in the diagnosis, clinical care and treatment of PWS since the previous edition was published in 2006, and more thorough information on understanding the cause and diagnosis of the condition, along with clinical presentation and findings with natural history data now available. The book is divided into three thematic sections. Part One discusses the genetics, diagnosis, research and overview of PWS, including current laboratory testing. The medical physiology and treatment of PWS comprise Part Two, covering the GI system, obesity as well as the use of growth hormone. Part Three, the largest section, presents a wide-ranging, multidisciplinary management approach to PWS, attending to the many manifestations of the condition. Topics here include neurodevelopmental aspects, speech and language disorders, motor issues, psychological and behavioral management, educational and transitional considerations, vocational training and residential care, and advocacy for both school discipline and sexuality. Syndrome-specific growth charts, benefits eligibility information and additional resources are included in helpful appendices. Timely and well-crafted, this latest edition of Management of Prader-Willi Syndrome remains the gold standard for clinicians and health care providers working with patients diagnosed with this rare obesity-related genetic disorder.
Author : National Organization for Rare Disorders
Publisher : Lippincott Williams & Wilkins
ISBN 13 : 9780781730631
Total Pages : 982 pages
Book Rating : 4.7/5 (36 download)
Download or read book NORD Guide to Rare Disorders written by National Organization for Rare Disorders and published by Lippincott Williams & Wilkins. This book was released on 2003 with total page 982 pages. Available in PDF, EPUB and Kindle. Book excerpt: NORD Guide to Rare Disorders is a comprehensive, practical, authoritative guide to the diagnosis and management of more than 800 rare diseases. The diseases are discussed in a uniform, easy-to-follow format--a brief description, signs and symptoms, etiology, related disorders, epidemiology, standard treatment, investigational treatment, resources, and references.The book includes a complete directory of orphan drugs, a full-color atlas of visual diagnostic signs, and a Master Resource List of support groups and helpful organizations. An index of symptoms and key words offers physicians valuable assistance in finding the information they need quickly.
Author : Sandro Loche
Publisher : Karger Medical and Scientific Publishers
ISBN 13 : 3805593023
Total Pages : 228 pages
Book Rating : 4.8/5 (55 download)
Download or read book Pediatric Neuroendocrinology written by Sandro Loche and published by Karger Medical and Scientific Publishers. This book was released on 2010 with total page 228 pages. Available in PDF, EPUB and Kindle. Book excerpt: The neuroendocrine system plays a pivotal role in the control of growth, puberty, reproduction, and intermediate metabolism. This title presents the research on neuroendocrine physiology, advances in the control of the onset of puberty and its disorders, and basic and clinical aspects of the GH/IGF-1 and hypothalamic-pituitary-adrenal axes.
Author : Andrew J. Hogan
Publisher : Johns Hopkins University Press+ORM
ISBN 13 : 1421420759
Total Pages : 264 pages
Book Rating : 4.4/5 (214 download)
Download or read book Life Histories of Genetic Disease written by Andrew J. Hogan and published by Johns Hopkins University Press+ORM. This book was released on 2016-10-30 with total page 264 pages. Available in PDF, EPUB and Kindle. Book excerpt: A richly detailed history that “uncovers the challenges and limitations of our increasing reliance on genetic data in medical decision making” (Shobita Parthasarathy, author of Building Genetic Medicine). Medical geneticists began mapping the chromosomal infrastructure piece by piece in the 1970s by focusing on what was known about individual genetic disorders. Five decades later, their infrastructure had become an edifice for prevention, allowing expectant parents to test prenatally for hundreds of disease-specific mutations using powerful genetic testing platforms. In this book, Andrew J. Hogan explores how various diseases were “made genetic” after 1960, with the long-term aim of treating and curing them using gene therapy. In the process, he explains, these disorders were located in the human genome and became targets for prenatal prevention, while the ongoing promise of gene therapy remained on the distant horizon. In narrating the history of research that contributed to diagnostic genetic medicine, Hogan describes the expanding scope of prenatal diagnosis and prevention. He draws on case studies of Prader-Willi, fragile X, DiGeorge, and velo-cardio-facial syndromes to illustrate that almost all testing in medical genetics is inseparable from the larger—and increasingly “big data”–oriented—aims of biomedical research. Hogan also reveals how contemporary genetic testing infrastructure reflects an intense collaboration among cytogeneticists, molecular biologists, and doctors specializing in human malformation. Hogan critiques the modern ideology of genetic prevention, which suggests all pregnancies are at risk for genetic disease and should be subject to extensive genomic screening. He examines the dilemmas and ethics of the use of prenatal diagnostic information in an era when medical geneticists and biotechnology companies offer whole genome prenatal screening—essentially searching for any disease-causing mutation. Hogan’s analysis is animated by ongoing scientific and scholarly debates about the extent to which the preventive focus in contemporary medical genetics resembles the aims of earlier eugenicists. Written for historians, sociologists, and anthropologists of science and medicine, as well as bioethics scholars, physicians, geneticists, and families affected by genetic conditions, Life Histories of Genetic Disease is a profound exploration of the scientific culture surrounding malformation and mutation.
