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.
Download or read book Das Prader Willi Syndrom written by Urs Eiholzer and published by . This book was released on 1998 with total page 66 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Prader Willi Syndrome written by Urs Eiholzer and published by Karger Medical and Scientific Publishers. This book was released on 2001 with total page 132 pages. Available in PDF, EPUB and Kindle. Book excerpt: Over the past years, great advances have been made in the research of Prader-Willi Syndrome and its treatment options. The results raise hopes that the once depressing outlook for children with PWS and their parents will gradually give way to a much improved quality of life. Clinical research has shown that there is a hypothalamic growth hormone deficiency in PWS and that growth hormone treatment improves body composition, body proportions and physical performance of patients. Increased lean body mass enhances energy expenditure and - provided the energy input can be restrained - children no longer become obese. The disappearance of the obese phenotype in children with PWS who are treated with growth hormone starting before puberty prevents stigmatisation of children and their families in society. The mental retardation and the compulsive behavior disorder will however remain major handicaps which seemingly cannot be influenced by growth hormone therapy. This book provides an overview of the clinical research results as to hormones and metabolism of PWS with special emphasis on growth hormone and growth hormone treatment. Besides the outstanding scientific texts, this volume offers comprehensive photographic material to document the development of selected patients over several years and to illustrate extreme individual changes in the physical appearance and facial expression.
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.
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.
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
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.
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.
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.
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:
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
Download or read book Clinical Sleep Disorders written by Paul R. Carney and published by Lippincott Williams & Wilkins. This book was released on 2005 with total page 536 pages. Available in PDF, EPUB and Kindle. Book excerpt: This clinically focused, practical reference is a complete guide to diagnosing and treating sleep disorders. The opening sections explain basic definitions, sleep monitoring, and normal human sleep. A clinical presentations section details how to approach diagnosis based upon patients' complaints, as well as unique features of the child, adolescent, or older adult with sleep problems. Subsequent sections address specific sleep disorders and sleep disorders in patients with other medical and psychiatric conditions. Chapters have been critically edited by experts from multiple specialties, follow a standardized template, and include bulleted lists, tables, and clinical pearls. Appendices include information on polysomnography, sleep questionnaires, and starting a sleep disorders facility.
Download or read book Clinical Endocrinology written by A. Labhart and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 1112 pages. Available in PDF, EPUB and Kindle. Book excerpt: Periodically in the evolution of an important branch of clinical medicine there develops a critical need for a textbook which combines with the clinical aspects of disease syndromes an in-depth review of the sciences basic to the disorders discussed, as well as a carefully selected but com prehensive review of pertinent literature. LABHART'S Clinical Endo crinology revised and translated into English provides for this need in the field of endocrinology in an exemplary manner. Prof. LABHART has selected his individual authors with great care, and they in turn have provided authoritative monographs. An interesting, useful and informative introduction to each chapter is provided by a tabulation of the dates of important or significant contributions to the field. The chapter subdivisions present in great detail a wide variety of subjects such as embryology, anatomy, biochemistry, physiology, indi vidual hormones and their analogues, biosynthesis, metabolism and regulation of hormone release as well as a full discussion of the clinico pathological correlations. The bibliography is unusually extensive and will provide an important source book for all investigators and students in the field.
Download or read book Growth Disorders 2E written by Chris Kelnar and published by CRC Press. This book was released on 2007-06-29 with total page 729 pages. Available in PDF, EPUB and Kindle. Book excerpt: Linear growth is a biological process of fundamental importance to the physical and psychological make-up of a child and adolescent but which can be subject to a number of interruptions and disorders. The management and treatment of patients with growth disorders constitues a major, and important, part of practice in clinical paediatrics, while in public health terms growth assessment remains one of the most useful indices of health and economic well being in both developed and the developing world. This book approaches growth and its disorders from both a physiological and pathophysiological standpoint. The book outlines in detail the fundamental biological mechanisms of normal and abnormal linear growth, how to assess growth accurately fundamental to the early detection of abnormality and, importantly, how to manage disorders leading to short and tall stature, and disorders of the timing of puberty. Throughout, emphasis is given on achieving a satisfactory outcome for the child and parent by keeping them fully informed as to what is possible from a particular treatment strategy. The result is a wide-ranging and balanced account of this challenging field drawing on the expertise of a team of international specialists from a variety of backgrounds.
Download or read book Handbook of diabetes mellitus written by Ernst Friedrich Pfeiffer and published by . This book was released on 1969 with total page 1462 pages. Available in PDF, EPUB and Kindle. Book excerpt:
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.
Download or read book Disturbances in Male Fertility written by K. Bandhauer and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 465 pages. Available in PDF, EPUB and Kindle. Book excerpt: Impending famine and a terrifying rate of consumption of natural resources are vital issues which have focussed public interest in the ecologic, social and political problems of ever increasing overpopulation in many countries of the world. As well as the vast material and intellectual expenditure lavished on family planning and birth control, the past decade has seen an immense research effort in the elaboration of improved methods of fertility control, both for men and for women. During the same period, however, research into the causes of male fertility disorders has proceeded with equal intensity, and a number of promising therapeutic approaches have become the subject of clinical trials. The wish of an individual or of a couple to have offspring is an absolute which requires no further justification, and there can be few challenges to a physician as essential as the spouses' predicament in a childless marriage. Only with a special knowledge of the function, pathology and pathophysiology of the reproductive system is he properly equipped to meet that challenge.
