The Handbook of Wilson Disease: A Worldwide Perspective and Translational Approach brings together the genetics & cell and structural biology of Wilson Disease into one contemporary, easy to navigate handbook. Aimed to meet the needs of the diverse clinical and research communities of Wilson Disease, this reference provides a worldwide approach that is concise and translational. Specifically, it provides a basis for clinicians to appreciate 'basic science' aspects of Wilson disease and similarly a basis for researchers to understand the clinical disorder on which their research is focused, fostering constructive dialogue and progress for this puzzling disorder. Offers a contemporary worldwide perspective with contributions from international experts in the field Delivers numerous succinct expert chapters with summaries designed for quick reference Includes a "How-to" appendix for diagnosis and management tips Contains access to a companion website with a self-help teaching module, links to key resources, and an extended reference list

Clinical and Translational Perspectives on Wilson Disease brings together the genetics, cell and structural biology of Wilson Disease into one contemporary, easy to navigate handbook. Created to meet the diverse needs of the clinical and research communities surrounding Wilson Disease, this reference provides a worldwide approach that is concise and translational. Specifically, it provides a basis for clinicians to appreciate 'basic science' aspects of Wilson disease, presenting a guide for researchers to understand the clinical disorder on which their research is focused and fostering constructive dialogue and progress for this puzzling disorder. - Delivers numerous, succinct, expert chapters with summaries designed for quick reference - Includes a 'How-to appendix' for diagnosis and management tips - Contains access to a companion website with a self-help teaching module, links to key resources, and an extended reference list

Infectious diseases are the leading cause of death globally, particularly among children and young adults. The spread of new pathogens and the threat of antimicrobial resistance pose particular challenges in combating these diseases. Major Infectious Diseases identifies feasible, cost-effective packages of interventions and strategies across delivery platforms to prevent and treat HIV/AIDS, other sexually transmitted infections, tuberculosis, malaria, adult febrile illness, viral hepatitis, and neglected tropical diseases. The volume emphasizes the need to effectively address emerging antimicrobial resistance, strengthen health systems, and increase access to care. The attainable goals are to reduce incidence, develop innovative approaches, and optimize existing tools in resource-constrained settings.

Completely revised new edition of the premier reference on pediatric liver disease. Liver Disease in Children, 3rd Edition provides authoritative coverage of every aspect of liver disease affecting infants, children, and adolescents. The book offers an integrated approach to the science and clinical practice of pediatric hepatology and charts the substantial progress in understanding and treating these diseases. Chapters are written by international experts and address the unique pathophysiology, manifestations, and management of these disorders in the pediatric population. The third edition has been thoroughly updated and features new contributions on liver development, cholestatic and autoimmune disorders, fatty liver disease, and inborn errors of metabolism. With the continued evolution of pediatric hepatology as a discipline, this text remains an essential reference for all physicians involved in the care of children with liver disease.

Getting the right diagnosis is a key aspect of health care - it provides an explanation of a patient's health problem and informs subsequent health care decisions. The diagnostic process is a complex, collaborative activity that involves clinical reasoning and information gathering to determine a patient's health problem. According to Improving Diagnosis in Health Care, diagnostic errors-inaccurate or delayed diagnoses-persist throughout all settings of care and continue to harm an unacceptable number of patients. It is likely that most people will experience at least one diagnostic error in their lifetime, sometimes with devastating consequences. Diagnostic errors may cause harm to patients by preventing or delaying appropriate treatment, providing unnecessary or harmful treatment, or resulting in psychological or financial repercussions. The committee concluded that improving the diagnostic process is not only possible, but also represents a moral, professional, and public health imperative. Improving Diagnosis in Health Care, a continuation of the landmark Institute of Medicine reports To Err Is Human (2000) and Crossing the Quality Chasm (2001), finds that diagnosis-and, in particular, the occurrence of diagnostic errorsâ€"has been largely unappreciated in efforts to improve the quality and safety of health care. Without a dedicated focus on improving diagnosis, diagnostic errors will likely worsen as the delivery of health care and the diagnostic process continue to increase in complexity. Just as the diagnostic process is a collaborative activity, improving diagnosis will require collaboration and a widespread commitment to change among health care professionals, health care organizations, patients and their families, researchers, and policy makers. The recommendations of Improving Diagnosis in Health Care contribute to the growing momentum for change in this crucial area of health care quality and safety.

This pocket guide provides a concise yet comprehensive overview of the pathogenesis, treatment, and management of Wilson disease. Drawing upon expertise from the Center of Excellence at Yale University in liver disease, neurology, and psychiatry for adult and pediatric patients, as well as dieticians, clinical trial coordinators, representatives from the Wilson Disease Association and outside experts from the US and UK as well, this guide provides a balanced and easy to digest approach to understanding treatment and care for Wilson disease patients. The text reviews different treatment options and other care needed to address clinical symptoms, as well as the testing needed for monitoring efficacy and adherence. Furthermore, the volume discusses these issues in the context of a best care model, which is an integrative care model where patients and their caregivers partner with Centers of Excellence with expertise in this rare disorder, to achieve best long-term outcomes. Written by experts in the field, Management of Wilson Disease: A Pocket Guide is a valuable resource for clinicians and primary care physicians who treat patients with Wilson disease.

This unique text brings together two often interconnected areas, sleep disorders and movement disorders, to provide sleep specialists, experts on movement disorders, and general neurologists with practical, interdisciplinary guidance on evaluation and treatment. It reviews new findings, based on animal models, genetic studies and imaging, that have led to a deeper understanding of the clinical features, epidemiology, and pathogenesis of these disorders. Readers will find the latest information on the association of Parkinson's disease, Tourette's syndrome, and other movement disorders with prominent sleep complaints and a higher incidence of sleep disorders, as well as the profound influence of sleep on the motor system, which amounts to a reorganization of motor control.

Wilson Disease: Pathogenesis, Molecular Mechanisms, Diagnosis, Treatment and Monitoring translates both clinical and experimental findings into a comprehensive approach for anyone involved in research and patient care. While the clinical variability of Wilson Disease poses a challenge from a diagnostic approach, the book uses the translational impact of new research findings to relate to new treatment concepts. Comprehensive chapters include common knowledge, guideline consensus statements, and discussions of clinical evidence. This is a must-have reference for researchers and clinicians in translational research. - Delivers a substantial overview of evidence driven diagnostic pathways and treatment concepts for Wilson disease - Provides an understanding of the translational impact of new research findings in Wilson Disease - Reveals the current controversies in treatment decisions for Wilson disease, providing the best decisions for optimal patient care

Neuroacanthocytosis Syndromes is the first comprehensive review of a field that has not yet received the attention it deserves. Affecting the brain as well as the circulating red cells, these multi-system disorders in the past had often been mistaken for Huntington's disease. Recent breakthroughs have now identified the molecular basis of several of these. This volume grew out of the first international scientific meeting ever devoted to neuroacanthocytosis and provides in-depth information about the state of the art. Its thirty chapters were written by the leading authorities in the field to cover the clinical as well as the basic science perspective, including not only molecular genetics but also experimental pharmacology and cell membrane biology, among others. The book vehemently poses the question of how the membrane deformation of circulating red blood cells relates to degeneration of nerve cells in the brain, the basal ganglia, in particular. It provides a wealth of data that will help to solve an intriguing puzzle and ease the suffering of those affected by one of the neuroacanthocytosis syndromes.

This report is the twelfth assessment of the National Institutes of Health National Research Service Awards program. The research training needs of the country in basic biomedical, clinical, and behavioral and social sciences are considered. Also included are the training needs of oral health, nursing, and health services research. The report has been broadly constructed to take into account the rapidly evolving national and international health care needs. The past and present are analyzed, and predictions with regard to future needs are presented.