Author: Merlin Butler
Publisher: Springer Science & Business Media
ISBN: 0387335366
Category : Medical
Languages : en
Pages : 569
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Book Description
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: Joyce Whittington
Publisher: Cambridge University Press
ISBN: 9781139452458
Category : Medical
Languages : en
Pages : 236
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Book Description
Prader-Willi syndrome (PWS) is associated with an assortment of physical, behavioural and cognitive abnormalities which create a broad range of care needs. Information about the syndrome is spread across a variety of disciplines. In this book the authors seek to identify and provide the latest findings about how best to manage the complex medical, nutritional, psychological, educational, social and therapeutic needs of people with PWS. Their approach is an integrated one, centred on the PWS phenotype. Both authors have been involved in the Cambridge PWS study, which is the largest and most rounded of the cohort studies of PWS anywhere in the world. The unique data it provides is the basis of this book.
Author: John Hernandez-Storr
Publisher:
ISBN: 9780997178302
Category :
Languages : en
Pages :
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Book Description
On March 28, 1971, Fausta Deterling gave birth to a boy. Curtis was floppy and had little appetite. When he was five months old, a doctor told his parents that Curtis had something called Prader-Willi syndrome. He told them Curtis would develop a huge appetite as a toddler, would become quite obese, would not be 100 percent mentally, and would not live past his twenties. There was no cure or treatment, the doctor said. Fausta and her husband, Gene, did not accept this. They banded with other parents, and with a handful of professionals, to try to make better lives for their children.The small number of professionals interested in Prader-Willi syndrome made some gains, although the syndrome remained obscure. But in the 1980s Prader-Willi syndrome became the focus of a worldwide genetic mystery. And the resolution of that mystery would change the textbooks.
Author: Louise R. Greenswag
Publisher: Springer Science & Business Media
ISBN: 1468403168
Category : Medical
Languages : en
Pages : 293
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Book Description
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: Philip R. Beales
Publisher: Oxford University Press
ISBN: 0199719861
Category : Medical
Languages : en
Pages : 300
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Book Description
Obesity is one of the most important contributing factors to disease throughout the world and is an area of great current interest among researchers and clinicians. The genetics of common obesity is complex, and an important thread through this labyrinth is the study of genetic syndromes in which obesity is a major component. By examining the genetic mechanisms of obesity in these syndromes, the authors will shed new light on the genetics of common obesity. This is the first book on this important and exciting new area and addreses both the molecular and clinical features of the obesity syndromes, providing hard-core information for researchers and practical guidelines for clinicians caring for obese patients. The book is divided into three sections: the first covers approaches for assessing and investigating the obese individual; the second describes nondysmorphic, monogenic forms of obesity; and the third documents key, multisystem obesity syndromes with various genetic etiologies. It is as much a reference book as it is a manual and will appeal to clinical geneticists, obesity researchers, endocrinologists, nutritionists, and medical biologists.
Author: National Organization for Rare Disorders
Publisher: Lippincott Williams & Wilkins
ISBN: 9780781730631
Category : Medical
Languages : en
Pages : 982
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Book Description
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: Jackie Waters
Publisher: Routledge
ISBN: 1134110065
Category : Education
Languages : en
Pages : 97
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Book Description
An examination of the cognitive, medical and psychological aspects of educating a child with Prader-Willi Syndrome. Practical advice is given for every part of the schooling process, from classroom management to helping the child with difficult lessons such as maths. The section on further education discusses the ethical issues concerned with learning skills for independent living and the potential for future employment.
Author: Richard B. Berry
Publisher: Elsevier Health Sciences
ISBN: 0323810829
Category : Medical
Languages : en
Pages : 938
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Book Description
Master the basics of sleep medicine with this easy to read, award-winning text! Fundamentals of Sleep Medicine, 2nd Edition, by Drs. Richard B. Berry, Mary H. Wagner, and Scott M. Ryals, is an ideal resource for sleep medicine fellows and trainees, sleep technicians, and sleep medicine practitioners as a concise, clinically focused alternative to larger references. Beginning with core content, it then proceeds to information useful for everyday practice—all written in a clear, direct style designed for quick and easy access. - Features video content that demonstrates common sleep disorders. - Includes more than 350 updated multiple-choice questions and answers for self-assessment and board preparation. - New! Offers concise Key Points at the end of each chapter, expanding on information from Drs. Berry and Wagner's popular book Sleep Medicine Pearls to enhance your understanding. - Provides updated references to AASM scoring guidelines and diagnostic criteria for sleep disorders. - Illustrated with numerous diagrams, charts, and polysomnograms (sleep studies) to clarify complex concepts. - Any additional digital ancillary content may publish up to 6 weeks following the publication date.
Author: Michael B. Ranke
Publisher: Karger Medical and Scientific Publishers
ISBN: 3805582560
Category : Medical
Languages : en
Pages : 534
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Book Description
For 20 years, KIGS (Pfizer International Growth Database) has provided an outstanding tool for monitoring the use, efficacy and safety of growth hormone (GH) treatment in children with short stature of varying origin. This volume offers a comprehensive update of the continuing experiences in KIGS and is based on data from more than 50 countries and more than 60,000 patients. International experts analyse in detail the basic auxological characteristics of patients and their response to GH treatment for a broad spectrum of growth disorders. These include idiopathic GH deficiency, organic GH deficiency due to a variety of causes such as congenital malformations and syndromes, genetic disorders or treatment for leukaemia or central nervous system tumours and short stature in children born small for gestational age, specific syndromes and systemic disorders. Each growth disorder is also covered by a review of relevant published data by international experts. KIGS has also established itself as a primary source of information about adverse events during long-term GH treatment in children. The recent analysis of KIGS data has revealed no new adverse drug reactions since the 10-year follow-up. Therefore, treatment with GH seems a low-risk intervention in children and adolescents with various growth disorders. The process of developing disease-specific growth response prediction models has been ongoing in KIGS for many years. The available models are accurate, precise and have a relatively high degree of predictive power, although further predictors of the growth response remain to be identified. The KIGS prediction models can be applied prospectively to new patients, enabling their GH therapy to be better tailored and monitored to achieve optimal growth, safety and cost outcomes. The future of KIGS within the era of evidence-based medicine will continue to depend upon the quality of the data reported. Therefore, the commitment of participating physicians will continue to be a decisive element. The ongoing recognition of the importance of valid safety and efficacy information in the practice of paediatric endocrinology is exemplified by this valuable international collaboration of clinicians and the pharmaceutical community.
Author: Suzanne B. Cassidy
Publisher: John Wiley & Sons
ISBN: 1118210670
Category : Medical
Languages : en
Pages : 1678
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Book Description
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
