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Can You Help Me?: Living in the Turbulent World of Huntington Disease shares the surprising, insightful, challenging, and even encouraging stories of patients and their families who live with Huntington Disease. Having seen patients for more than 40 years, Dr Thomas Bird, a pioneer neurogeneticist, adds a human touch to this genetic brain disease that devastates persons during mid-life when they can least afford it. With a brief history of Huntington Disease and the occasional scientific detail, the true heart of the book is the human experience of the disorder: � The man who cannot stay out of prison because he is addicted to being a burglar. � Another man shoots and kills his roommate while watching television and cannot explain why he did it. � The woman with Huntington Disease copes with her depression by using Texas line dancing. � A twelve year old girl with juvenile Huntington Disease who can barely walk and talk, but her classmates rally around with touching and heartfelt support. � And the 72 year old man with late onset Huntington Disease and severe depression is made worse by ECT, but improved (for a while) with Transcranial Magnetic Stimulation. These are just some of the compelling stories of people of all ages and in all walks of life who feel trapped by a progressive degenerative brain disease from which there is no escape.
Five Feet Apart meets Tell Me Three Things in this YA contemporary novel about two sisters, one summer, and a diagnosis that changes everything. Abby needs to escape a life that she no longer recognizes as her own. Her old life--the one where she was a high school volleyball star with a textbook-perfect future--has been ripped away. Abby and her sister, Brooke, have received a letter from their estranged dad informing them he has Huntington's disease, a fatal, degenerative disorder that you wouldn't wish on your worst enemy. And when the sisters agree to genetic testing, one of them tests positive. Fleeing to Catalina Island for the summer, Abby is relieved to be in a place where no one knows her tragic history. But when she meets aspiring documentary filmmaker Ben--tall, outdoorsy, easygoing, with eyes that don't miss a thing--she's thrown off her game. Ben's the kind of guy who loves to figure out people's stories. What if he learns hers?
An evidence-based guide for doctors diagnosing, testing, and treating children with PANDAS (Pediatric Autoimmune Neuropsychiatric Disorder Associated with Strep infections). In the early 1990s, a group of researchers at the National Institute of Mental Health began collecting data on children who had developed neuropsychiatric disorders (OCD and tics) following infections. They found evidence that antineuronal antibodies had developed in some of these children which attacked the basal ganglia region of the brain. MRI and PET scans in these children demonstrated inflammatory changes in the basal ganglia as well. In 1997, the researchers published the first article to describe this syndrome that they named PANDAS (Pediatric Autoimmune Neuropsychiatric Disorder Associated with Strep infections). In PANDAS, an autoimmune attack on the brain occurs following a Strep infection. PANS (Pediatric Acute-onset Neuropsychiatric Syndrome) is a broader term that also includes cases following exposure to other infections, toxins, and even stress. Clinicians treating children with PANS and PANDAS have found that antibiotics targeted at the offending organisms, steroids, and IVIG results in marked improvement and occasionally complete remission of the neuropsychiatric symptoms. Disturbing symptoms consistent with many DSM-5 psychiatric disorders manifest in patients with PANS and PANDAS—yet we know that there is a biologic basis for the changes in these children. As a result, these disorders require us, as physicians, to view mental illness in an entirely new way. Resistance to this change in paradigm has made PANS and PANDAS difficult for clinicians to diagnose, unbearable for parents to endure, and controversial for scholars to accept. As such, there is no recognized standard of care. We have written this work in an effort to change that. This is a textbook by physicians for physicians. It was written to bring back some of the art of medicine to physicians caring for a group of children and families who really need it. PANS and PANDAS are complex disorders that demand a rich, multifaceted response with novel treatment approaches. The material in this book is assembled from the peer-reviewed medical literature, in combination with over thirty years of clinical experience caring for the sickest patients, both in and out of the hospital. Here you will find conclusive evidence for the existence and pathophysiology of PANS and PANDAS, alongside testing and treatment interventions the author has successfully used in his own practice with hundreds of children. The book concludes with rich appendices including commonly used labs, doses of medications and supplements, a sample flare protocol, extensive support for parents, sample IVIG orders, and much more. We hope this resource allows you, the physician, to help these suffering families heal.
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.
Huntington's Disease is a genetically inherited condition, the result of severe nerve-cell damage in the brain. Due to the recent identification of the gene involved, and the debilitating nature of the disease, a great many more people are now affected either directly or indirectly (familiesand carers) by this condition. The majority of people develop the disease between the ages of 35 and 55, so for those that are aware of a genetic inheritance, there are enormous problems to confront - should you carry on life as normal? Should you start a family? In this, the first book onHuntington's disease written for sufferers and their families, advice is given on living with this disabling illness. Written as much for carers as for the patients themselves, the book aims to answer some of the questions that both sufferer and carer might have. With the identification of theresponsible gene, genetic counselling is now available for those at risk of developing the disease. Though some may wish not to use these services, the book clearly explains the role of the counsellor, and what help is additionally available from the various patient organisations worldwide.
This fourth edition of Huntington's Disease presents a comprehensive summary of the current knowledge of this disease, including the major scientific and clinical advances that have occurred since publication of the third edition in 2002. Completely updated and expanded, chapters in this volume are organized in five sections: · Clinical aspects of Huntington's disease, including updated chapters on historical perspectives, neurological, neuropsychiatric, and neuropsychological aspects, and new chapters on juvenile Huntington's and the premanifest and early stages · The genetics of Huntington's disease, including new information on its epidemiology discussions of new testing guidelines · Neurobiology, including recent insights into correlations between pathology and symptoms and a new chapter on neuronal circuitry · The molecular biology of Huntington's disease, including new chapters on the normal function of huntingtin, the molecular pathogenesis of Huntington's disease and the peripheral pathology of the disorder, and an extensively updated chapter on its structural biology · An updated description of the comprehensive care for Huntington's disease, featureing a new chapter on preclinical therapeutics and a completely rewritten chapter on the state of the art of experimental therapeutics and clinical trials.
Preceded by A practical approach to movement disorders / Hubert H. Fernandez ... [et al.]. c2007.
Raising hopes for disease treatment and prevention, but also the specter of discrimination and "designer genes," genetic testing is potentially one of the most socially explosive developments of our time. This book presents a current assessment of this rapidly evolving field, offering principles for actions and research and recommendations on key issues in genetic testing and screening. Advantages of early genetic knowledge are balanced with issues associated with such knowledge: availability of treatment, privacy and discrimination, personal decision-making, public health objectives, cost, and more. Among the important issues covered: Quality control in genetic testing. Appropriate roles for public agencies, private health practitioners, and laboratories. Value-neutral education and counseling for persons considering testing. Use of test results in insurance, employment, and other settings.