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Book Management of Prader Willi Syndrome

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.

Book Management of Prader Willi Syndrome

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.

Book Management of Genetic Syndromes

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

Book Cassidy and Allanson s Management of Genetic Syndromes

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.

Book Genetics of Obesity Syndromes

Download or read book Genetics of Obesity Syndromes written by Philip R. Beales and published by Oxford University Press. This book was released on 2008-08-29 with total page 300 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Book Management of Prader Willi Syndrome

Download or read book Management of Prader Willi Syndrome written by Louise R. Greenswag and published by Springer. This book was released on 1995-05-09 with total page 393 pages. Available in PDF, EPUB and Kindle. Book excerpt: Endorsed by The Prader-Willi Syndrome Association, this manual brings together the considerable expertise of various professionals in the diagnosis and management of PWS. The book presents the historical, medical, and genetic background as an orientation aid for the reader before going on to explore the clinical, social, familial, and community issues and so pinpoint management strategies. Rather than becoming weighed down in research and diagnosis, the editors place the emphasis on pragmatic guidelines, thus clearly tailoring the text to the needs of health and educational specialists in academic, clinical, and community settings.

Book Growth Hormone Therapy in Pediatrics

Download or read book Growth Hormone Therapy in Pediatrics written by Michael B. Ranke and published by Karger Medical and Scientific Publishers. This book was released on 2007-01-01 with total page 534 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Book Prader Willi Syndrome

    Book Details:
  • Author : John Hernandez-Storr
  • Publisher :
  • Release : 2016-03-10
  • ISBN : 9780997178302
  • Pages : pages

Download or read book Prader Willi Syndrome written by John Hernandez-Storr and published by . This book was released on 2016-03-10 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Book Management of Prader Willi Syndrome

Download or read book Management of Prader Willi Syndrome written by Louise R. Greenswag and published by . This book was released on 1988 with total page 310 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Book Prader Willi Syndrome

Download or read book Prader Willi Syndrome written by Jackie Waters and published by Routledge. This book was released on 2014-03-05 with total page 97 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Book Pediatric Endocrinology

    Book Details:
  • Author : Sally Radovick
  • Publisher : Springer Science & Business Media
  • Release : 2013-02-20
  • ISBN : 1607613956
  • Pages : 616 pages

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.

Book The Normal One

    Book Details:
  • Author : Jeanne Safer
  • Publisher : Simon and Schuster
  • Release : 2002-09-17
  • ISBN : 0743234162
  • Pages : 234 pages

Download or read book The Normal One written by Jeanne Safer and published by Simon and Schuster. This book was released on 2002-09-17 with total page 234 pages. Available in PDF, EPUB and Kindle. Book excerpt: In the first book of its kind, renowned psychotherapist Jeanne Safer examines the hidden trauma of growing up with an emotionally troubled or physically disabled sibling, and helps adult "normal" siblings resolve their childhood pain. For too long the therapeutic community has focused on the parent-child relationship as the primary relationship in a child's life. In The Normal One, Dr. Safer shows that sisters and brothers are just as important as parents, and she illuminates for the first time the experience of being "the normal one." Drawing on more than sixty interviews with normal, or intact, siblings, Safer explores the daunting challenges they face, and probes the complex feelings that can strain families and damage lives. A “normal” sibling herself, Safer chronicles her own life-shaping experiences with her troubled brother. She examines the double-edged reality of normal ones: how they both compensate for their siblings’ abnormality and feel guilty for their own health and success. With both wisdom and empathy, she delineates the “Caliban Syndrome,” a set of personality traits characteristic of higher-functioning siblings: premature maturity, compulsion to achieve, survivor guilt, and fear of contagion. Essential reading for normal ones and those who love them, this landmark work offers readers insight, compassion, and tools to help resolve childhood pain. It is a profound and eye-opening examination of a subject that has too long been shrouded in darkness.

Book Prader Willi Syndrome

    Book Details:
  • Author : Charlotte Höybye
  • Publisher : Nova Science Pub Incorporated
  • Release : 2013-01-01
  • ISBN : 9781626189935
  • Pages : 294 pages

Download or read book Prader Willi Syndrome written by Charlotte Höybye and published by Nova Science Pub Incorporated. This book was released on 2013-01-01 with total page 294 pages. Available in PDF, EPUB and Kindle. Book excerpt: Prader-Willi syndrome (PWS) is a rare, genetic, multisystemic disorder, characterised by short stature, muscular hypotonia, intellectual disability, behavioural and psychological problems and frequently hypogonadism and impaired growth hormone secretion. PWS arises due to loss of function of paternally-expressed, imprinted genes from chromosome region 15q11-q13. In new-borns and infants, the syndrome presents symptoms of muscular hypotonia and nutritional difficulties, which from the age of approximately two years is replaced by hyperphagia often leading to severe obesity. With increasing age the behavioural and psychological problems increase while the muscular hypotonia improves. During the last decades the knowledge of different aspects of PWS has increased and accordingly the treatment possibilities. However, no specific treatment exists and thus problems continue lifelong. Taking care of PWS patients is therefore a demanding task and necessitates a solid knowledge and understanding of the disorder as well as a multidisciplinary approach. This book will provide professionals taking care of patients with PWS with updated and comprehensive information and advise. The content is built up logically and it will be easy to navigate between the chapters, which cover all clinically relevant issues, genetics, signs and symptoms in children and adults, treatment, words from patients and parents, supporting organisations, and from a parent to a PWS patient.

Book Prader Willi Syndrome

    Book Details:
  • Author : Mary L. Caldwell
  • Publisher : Springer Science & Business Media
  • Release : 2013-11-11
  • ISBN : 1461238544
  • Pages : 117 pages

Download or read book Prader Willi Syndrome written by Mary L. Caldwell and published by Springer Science & Business Media. This book was released on 2013-11-11 with total page 117 pages. Available in PDF, EPUB and Kindle. Book excerpt: Prader-Willi Syndrome: Selected Research and Management Issues investigates the most recent developments in the diagnosis and management of individuals with the syndrome. This volume is not intended as a comprehensive review, but as a source of new, original research on this little understood syndrome. Alternative methods of identification and treatment are considered, and issues related to the nonmedical characteristics are explored.

Book Behavioural Phenotypes

    Book Details:
  • Author : Gregory O'Brien
  • Publisher : Cambridge University Press
  • Release : 1995
  • ISBN : 9781898683063
  • Pages : 236 pages

Download or read book Behavioural Phenotypes written by Gregory O'Brien and published by Cambridge University Press. This book was released on 1995 with total page 236 pages. Available in PDF, EPUB and Kindle. Book excerpt: A timely distillation of current thinking on the presentation of behavioural disorders and their origins.

Book NORD Guide to Rare Disorders

    Book Details:
  • Author : National Organization for Rare Disorders
  • Publisher : Lippincott Williams & Wilkins
  • Release : 2003
  • ISBN : 9780781730631
  • Pages : 982 pages

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.

Book Prader Willi Syndrome as a Model for Obesity

Download or read book Prader Willi Syndrome as a Model for Obesity written by Urs Eiholzer and published by Karger Medical and Scientific Publishers. This book was released on 2003 with total page 245 pages. Available in PDF, EPUB and Kindle. Book excerpt: Almost fifty years ago, in 1956, three researchers of the University of Zurich, Andrea Prader, Alexis Labhart and Heinrich Willi, first described what is now called the Prader-Willi Syndrome (PWS). The study and the therapy of this syndrome have progressed so rapidly in the past years that the decision was made to share recent advances with the scientific community and to address topics of future research at an international meeting. The results of this meeting are presented in this book. PWS results from a paternally derived deletion or an imprinting defect on chromosome 15. During their first two years of life patients with PWS suffer from muscle weakness, feeding problems and developmental delay. From the age of two years onwards they develop an almost insatiable appetite and suffer from obesity, short stature, hypogonadism and behavior problems. As it is becoming increasingly obvious that PWS is a multisystemic disorder, improving the quality of life of patients and their families requires broad professional support. While growth hormone therapy influences growth and body composition, many other problems such as insufficient satiation, hypoactivity, behavioral difficulties, speech problems and mental retardation remain to be addressed. Parents need psychological support in their daily battle against the eating disorder and the behavioral problems of their child. A comprehensive team approach will yield the best results for both patients and their parents. PWS research may also contribute to basic medical research by providing new insights into the metabolism of obese patients, whose obesity is caused by factors other than PWS. In this way, PWS may be used as a model for obesity.