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The Prader Labhart Willi Syndrome Review Of The Literature And Report Of Nine Cases
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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 : Mary L. Caldwell
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 Synopsis Prader-Willi Syndrome by : Suzanne B. Cassidy
Download or read book Prader-Willi Syndrome written by Suzanne B. Cassidy and published by Springer Science & Business Media. This book was released on 2013-06-29 with total page 267 pages. Available in PDF, EPUB and Kindle. Book excerpt: Although Prader-Willi syndrome was first described 35 years ago, it was following detection of an interstitial chromosome 15q deletion in some affected patients ten years ago that it became a major focus of multidisciplinary scientific interest. This interest was compounded by the later determination that some patients with a clinically distinct disorder, Angelman syndrome, apparently also had the same chromosome 15q deletion. Subsequently, molecular genetic studies showed that some cytogenetically normal patients with both disorders have uniparental disomy, maternal in Prader-Willi syndrome and paternal in Angelman syndrome. Genetic imprinting has been implicated in this unusual phenomenon. This Workshop was conceived to bring together clinical and basic scientists from around the world whose research was focused on unraveling this unique genetic situation and further delineating these two fascinating disorders. As this volume demonstrates, it was successful in reaching this goal. Laboratory and clinical scientists from 15 countries in four continents participated, and even more countries were represented among the professional and parent observers of its proceedings. Many participants had previously known each other in print only. As a consequence of the Workshop, conclusions could be drawn on several issues. International collaborative research efforts were established. And acquaintances were developed between people who investigate the genetics of these disorders from differing perspectives, resulting in enrichment of approach to answering the complex questions posed by these fascinating conditions. Plans were initiated for another such scientific workshop a few years hence. This volume includes papers presented from the platform.
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 Syndromes of the Head and Neck by : Robert J. Gorlin
Download or read book Syndromes of the Head and Neck written by Robert J. Gorlin and published by Oxford University Press. This book was released on 2001-09-27 with total page 1332 pages. Available in PDF, EPUB and Kindle. Book excerpt: This classic text, one of the true anchors of our clinical genetics publishing program, covers over 700 different genetic syndromes involving the head and neck, and it has established itself as the definitive, comprehensive work on the subject. The discussion covers the phenotype spectrum, epidemiology, mode of inheritance, pathogenesis, and clinical profile of each condition, all of which is accompanied by a wealth of illustrations. The authors are recognized leaders in the field, and their vast knowledge and strong clinical judgment will help readers make sense of this complex and burgeoning field. Dr. Gorlin retires as editor in this edition and co-editor Raoul Hennekam takes over. Dr. Hennekam is regarded as one of the top dysmorphologists--and indeed one of the top clinical geneticists--in the world. Judith Allanson is new to the book but is a veteran OUP author and a widely respected geneticist, and Ian Krantz at Penn is a rising star in the field. Dr. Gorlin's name has always been closely associated with the book, and it has now become part of the title. As in all fields of genetics, there has been an explosion in the genetics of dysmorphology syndromes, and the author has undertaken a complete updating of all chapters in light of the discoveries of the Human Genome Project and other ongoing advances, with some chapters requiring complete rewriting. Additional material has been added both in terms of new syndromes and in updating information on existing syndromes. The book will appeal to clinical geneticists, pediatricians, neurologists, head and neck surgeons, otolarynologists, and dentists. The 4th edition, which published in 2001, has sold 2,600 copies.
Book Synopsis The Prader-Willi Syndrome by : Vanja A. Holm
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:
Book Synopsis Management of Prader-Willi Syndrome by : Merlin G. Butler
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.
Book Synopsis The Complete MRCPsych by : Ashok Patel
Download or read book The Complete MRCPsych written by Ashok Patel and published by CRC Press. This book was released on 2006-01-27 with total page 866 pages. Available in PDF, EPUB and Kindle. Book excerpt: Studying for the MRCPsych exams can seem a daunting prospect, especially when faced with the vast amounts of literature available to help, but this book offers a complete solution in the form of a thoroughly comprehensive guide to the Part I Exam. Completely up to date and taking in the recent changes to the exam, the book reflects the exam format and content extremely accurately. Written by an experienced examiner with contributions from trainees, the book combines these elements to ensure that it is the perfect revision companion for any psychiatrist preparing for the MRCPsych Part I.
Download or read book Endocrinology Index written by and published by . This book was released on 1969-10 with total page 608 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Book Synopsis Genetics and Genomics of Neurobehavioral Disorders by : Gene S. Fisch
Download or read book Genetics and Genomics of Neurobehavioral Disorders written by Gene S. Fisch and published by Springer Science & Business Media. This book was released on 2003-01-07 with total page 428 pages. Available in PDF, EPUB and Kindle. Book excerpt: A clear and comprehensive account of how genetic abnormalities, neurobiology, and neuropsychology work together to manifest cognitive-behavioral dysfunction. The authors review the current status of research in autosomal disorders that produce cognitive-behavioral dysfunction and syndromal and nonsyndromal disorders that produce mental retardation.
Download or read book Diabetes Literature Index written by and published by . This book was released on 1969 with total page 1312 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Cumulated Index Medicus written by and published by . This book was released on 1981 with total page 960 pages. Available in PDF, EPUB and Kindle. Book excerpt:
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.
Book Synopsis Neurodevelopmental Disorders by : Helen Tager-Flusberg
Download or read book Neurodevelopmental Disorders written by Helen Tager-Flusberg and published by MIT Press. This book was released on 1999 with total page 634 pages. Available in PDF, EPUB and Kindle. Book excerpt: Content Description #"A Bradford Book."#Includes bibliographical references and index.
Book Synopsis Behavioral Medicine with the Developmentally Disabled by : J.H. Kedesdy
Download or read book Behavioral Medicine with the Developmentally Disabled written by J.H. Kedesdy and published by Springer Science & Business Media. This book was released on 2013-11-11 with total page 296 pages. Available in PDF, EPUB and Kindle. Book excerpt: Since the late 1960s, the behavioral treatment of mentally retarded, au tistic, and other developmentally disabled persons has grown progres sively more sophisticated. The literature on behavioral treatment has produced effective and clinically significant programs for the reduction of maladaptive behaviors such as tantrums, aggression, and self-injury; skills deficits have been remediated through improved programs for language and life skills acquisition; and new environments have been opened in the creation of mainstream educational opportunities. In spite of these advances, it strikes us that this almost exclusive focus on behavior problems and skills remediation has been somewhat myopic and that much of the potential for application of behavioral science to solving problems of the developmentally disabled is as yet untapped. In the 1980s, an important revolution has taken place: the devel opment of the field of behavioral medicine. This field, in merging disease treatment and management with learning and behavior, has already made impressive progress toward a reconceptualization of health care that acknowledges the centrality of behavior in disease expression. Al though there has, as yet, been only a preliminary application of this reconceptualization to the field of developmental disabilities, we are convinced that further extension has great potential.
Book Synopsis Sleep Disorders by : Robert L. Williams, II
Download or read book Sleep Disorders written by Robert L. Williams, II and published by Wiley-Interscience. This book was released on 1988-05-09 with total page 448 pages. Available in PDF, EPUB and Kindle. Book excerpt: In this comprehensive review, leading experts on sleep disorders present up-to-date information on diagnosis and treatment. Each chapter is devoted to a single disorder or family of disorders. In addition to the major sleep disturbances, several chapters cover sleep disorders associated with psychiatric conditions, organic conditions, and drug abuse. A final chapter deals with pharmacological treatment of pathological sleep. Thoroughly updated and revised, the material presented here has been reorganized to follow the recently accepted nosology as defined by the Association of Sleep Disorder Centers. Unlike the First Edition, which was written as a text on the subject, the information here is specifically intended for a graduate-level readership.
