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The Prader Willi Syndrome
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Book Synopsis Management of Prader-Willi Syndrome by : Merlin Butler
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 Synopsis Management of Genetic Syndromes by : Suzanne B. Cassidy
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 Synopsis Prader-Willi Syndrome by : Joyce Whittington
Download or read book Prader-Willi Syndrome written by Joyce Whittington and published by Cambridge University Press. This book was released on 2004-04-22 with total page 236 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Book Synopsis Management of Prader-Willi Syndrome by : Louise R. Greenswag
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 Synopsis Prader-Willi Syndrome by : John Hernandez-Storr
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 Synopsis Genetics of Obesity Syndromes by : Philip R. Beales
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 Synopsis Prader-Willi Syndrome by : Jackie Waters
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 Synopsis Fundamentals of Sleep Medicine E-Book by : Richard B. Berry
Download or read book Fundamentals of Sleep Medicine E-Book written by Richard B. Berry and published by Elsevier Health Sciences. This book was released on 2011-07-18 with total page 674 pages. Available in PDF, EPUB and Kindle. Book excerpt: Written by Richard Berry, MD, author of the popular Sleep Medicine Pearls, Fundamentals of Sleep Medicine is a concise, clinically focused alternative to larger sleep medicine references. A recipient of the 2010 AASM Excellence in Education award, Dr. Berry is exceptionally well qualified to distill today's most essential sleep medicine know-how in a way that is fast and easy to access and apply in your practice. - Consult this title on your favorite e-reader, conduct rapid searches, and adjust font sizes for optimal readability. Compatible with Kindle®, nook®, and other popular devices. - Get clear guidance on applying the AASM scoring criteria. - Reinforce your knowledge with more than 350 review questions. - Get the answers you need quickly thanks to Dr. Berry's direct and clear writing style. - Access the complete contents online at Expert Consult, including videos demonstrating parasomnias, leg kicks, and more.
Book Synopsis Prader-Willi Syndrome as a Model for Obesity by : Urs Eiholzer
Download or read book Prader-Willi Syndrome as a Model for Obesity written by Urs Eiholzer and published by . This book was released on 2003 with total page 0 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.
Book Synopsis Pediatric Sleep Medicine by : David Gozal
Download or read book Pediatric Sleep Medicine written by David Gozal and published by Springer Nature. This book was released on 2021-04-15 with total page 719 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book provides comprehensive coverage of all aspects related to pediatric sleep and its associated disorders. It addresses the ontogeny and maturational aspects of physiological sleep and circadian rhythms, as well as the effects of sleep on the various organ systems as a function of development. Organized into nine sections, the book begins with a basic introduction to sleep, and proceeds into an extensive coverage of normative sleep and functional homeostasis. Part three then concisely examines the humoral and developmental aspects of sleep, namely the emerging role of metabolic tissue and the intestinal microbiota in regulation. Parts four, five, and six discuss diagnoses methods, techniques in sleep measurement, and specific aspects of pharmacotherapy and ventilator support for the pediatric patient. Various sleep disorders are explored in part seven, followed by an in-depth analysis of obstructive sleep apnea in part eight. The book concludes with discussions on the presence of sleep issues in other disorders such as Down syndrome, obesity, cystic fibrosis, and asthma. Written by recognized leaders in the field, Pediatric Sleep Medicine facilitates an extensive learning experience for practicing physicians who encounter specific sleep-related issues in their practice.
Book Synopsis Pharmacoepigenetics by : Ramón Cacabelos
Download or read book Pharmacoepigenetics written by Ramón Cacabelos and published by Academic Press. This book was released on 2019-06-04 with total page 986 pages. Available in PDF, EPUB and Kindle. Book excerpt: Pharmacoepigenetics provides a comprehensive volume on the role of epigenetics and epigenomics in drug discovery and development, providing a detailed, but accessible, view of the field, from basic principles, to applications in disease therapeutics. Leading international researchers from across academia, clinical settings and the pharmaceutical industry discuss the influence of epigenetics and epigenomics in human pathology, epigenetic biomarkers for disease prediction, diagnosis, and treatment, current epigenetic drugs, and the application of epigenetic procedures in drug development. Throughout the book, chapter authors offer a balanced and objective discussion of the future of pharmacoepigenetics and its crucial contribution to the growth of precision and personalized medicine. - Fully examines the influence of epigenetics and epigenomics in human pathology, epigenetic biomarkers for disease prediction, diagnosis, treatment, current epigenetic drugs and the application of epigenetic procedures in drug development - Features chapter contributions from leading international researchers in academia, clinical settings and the pharmaceutical industry - Instructs researchers, students and clinicians on how to better interpret and employ pharmacoepigenetics in drug development, efficiency and safety - Provides a balanced and objective discussion of the future of pharmacoepigenetics and its crucial role in precision medicine
Book Synopsis Encyclopedia of Molecular Mechanisms of Disease by : Florian Lang
Download or read book Encyclopedia of Molecular Mechanisms of Disease written by Florian Lang and published by Springer Science & Business Media. This book was released on 2009-03-19 with total page 2348 pages. Available in PDF, EPUB and Kindle. Book excerpt: This comprehensive encyclopedia supplies the reader with concise information on the molecular pathophysiology of disease. Entries include defined diseases (such as Parkinson's disease) as well as pathophysiological entities (such as tremor). The 1,200 essays are brilliantly structured to allow rapid retrieval of the desired information. For more detailed reading, each entry is followed by up to five references. Individual entries are written by leading experts in the respective area of research to ensure state-of-the-art descriptions of the mechanisms involved. It is an invaluable companion for clinicians and scientists in all medical disciplines.
Author :Michael B. Ranke Publisher :Karger Medical and Scientific Publishers ISBN 13 :3805582560 Total Pages :534 pages Book Rating :4.8/5 (55 download)
Book Synopsis Growth Hormone Therapy in Pediatrics by : Michael B. Ranke
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 Synopsis Cassidy and Allanson's Management of Genetic Syndromes by : John C. Carey
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.
Download or read book Ultra-Violet written by Debbie Frisk and published by Rtc Publishing. This book was released on 2014-09-08 with total page 82 pages. Available in PDF, EPUB and Kindle. Book excerpt: Estimated to occur once in every 15,000 births, Prader-Willi Syndrome is a rare genetic disorder that includes features of cognitive disabilities, problem behaviors, and, most pervasively, chronic hunger that leads to dangerous overeating and its life-threatening consequences. Ultra-Violet: One Girl's Prader-Willi Story draws on dozens of intensive interviews to offer insight into the world of a young girl with Prader-Willi Syndrome. For Violet, Prader-Willi Syndrome impacts everything from family and social relationships to education to her own self-image. But with the persistence of her parents and the help of experts, she will eventually discover not just how to live with Prader-Willi Syndrome-but how to live as Violet.
Author :National Organization for Rare Disorders Publisher :Lippincott Williams & Wilkins ISBN 13 :9780781730631 Total Pages :982 pages Book Rating :4.7/5 (36 download)
Book Synopsis NORD Guide to Rare Disorders by : National Organization for Rare Disorders
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 Synopsis The Human Hypothalamus by : Dick F. Swaab
Download or read book The Human Hypothalamus written by Dick F. Swaab and published by Elsevier. This book was released on 2021-07-04 with total page 570 pages. Available in PDF, EPUB and Kindle. Book excerpt: The Human Hypothalamus: Neuroendocrine Disorders, Volume 181 in the Handbook of Clinical Neurology series, provides comprehensive summaries of recent research on the brain and nervous system as they relate to clinical neurology. This volume summarizes the role of the hypothalamus in neuroendocrine disorders, identifying the mechanism of action, disorder etiology, and best practices for assessment and treatment. Disorders covered include pituitary hypothalamic disorders of development and growth, hypothalamic tumor related disorders, hypothalamic autoimmune disorders and infection, disorders of vasopressin, water and sodium homeostasis, eating disorders, and gonadotropic hormone regulation disorders. - Discusses the importance of the hypothalamus in human growth and development - Reviews hypothalamic related tumors, as well as pituitary, autoimmune, vasopressin and hormone regulation disorders - Includes metabolic and eating disorders - Identifies mechanisms of disease action and etiology - Provides best practice information for assessment and treatment
