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.

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?

For patients and their loved ones, no care decisions are more profound than those made near the end of life. Unfortunately, the experience of dying in the United States is often characterized by fragmented care, inadequate treatment of distressing symptoms, frequent transitions among care settings, and enormous care responsibilities for families. According to this report, the current health care system of rendering more intensive services than are necessary and desired by patients, and the lack of coordination among programs increases risks to patients and creates avoidable burdens on them and their families. Dying in America is a study of the current state of health care for persons of all ages who are nearing the end of life. Death is not a strictly medical event. Ideally, health care for those nearing the end of life harmonizes with social, psychological, and spiritual support. All people with advanced illnesses who may be approaching the end of life are entitled to access to high-quality, compassionate, evidence-based care, consistent with their wishes. Dying in America evaluates strategies to integrate care into a person- and family-centered, team-based framework, and makes recommendations to create a system that coordinates care and supports and respects the choices of patients and their families. The findings and recommendations of this report will address the needs of patients and their families and assist policy makers, clinicians and their educational and credentialing bodies, leaders of health care delivery and financing organizations, researchers, public and private funders, religious and community leaders, advocates of better care, journalists, and the public to provide the best care possible for people nearing the end of life.

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.