With more than 30 different types and subtypes known and many more yet to be classified and characterized, muscular dystrophy is a highly heterogeneous group of inherited neuromuscular disorders. This book provides a comprehensive overview of the various types of muscular dystrophies, genes associated with each subtype, disease diagnosis, management as well as available treatment options. Though each different type and subtype of muscular dystrophy is associated with a different causative gene, the majority of them have overlapping clinical presentations, making molecular diagnosis inevitable for both disease diagnosis as well as patient management. This book discusses the currently available diagnostic approaches that have revolutionized clinical research. Pathophysiology of the different muscular dystrophies, multifaceted functions of the involved genes as well as efforts towards diagnosis and effective patient management, are also discussed. Adding value to the book are the included reports on ongoing studies that show a promise for future therapeutic strategies.
Semiannual, with semiannual and annual indexes. References to all scientific and technical literature coming from DOE, its laboratories, energy centers, and contractors. Includes all works deriving from DOE, other related government-sponsored information, and foreign nonnuclear information. Arranged under 39 categories, e.g., Biomedical sciences, basic studies; Biomedical sciences, applied studies; Health and safety; and Fusion energy. Entry gives bibliographical information and abstract. Corporate, author, subject, report number indexes.
Written by nurse practitioners for nurse practitioners, this one-of-a-kind resource provides the expert guidance you need to provide comprehensive primary care to children with special needs and their families. It addresses specific conditions that require alterations in standard primary care and offers practical advice on managing the major issues common to children with chronic conditions. A consistent format makes it easy to locate essential information on each condition. Plus, valuable resources help you manage the issues and gaps in health care coverage that may hinder quality care. This is the only book authored by Nurse Practitioners that focuses on managing the primary health care needs of children with chronic conditions. More than 60 expert contributors provide the most current information available on specific conditions. Comprehensive summary boxes at the end of all chronic conditions chapters provide at-a-glance access to key information. Resource lists at the end of each chronic condition chapter direct you to helpful websites, national organizations, and additional sources of information that you can share with parents and families. Updated references ensure you have access to the most current, evidence-based coverage of the latest research findings and management protocols. Four new chapters — Celiac Disease, Eating Disorders, Muscular Dystrophy, and Obesity — keep you up to date with the latest developments in treating these conditions. Autism content is updated with the latest research on autism spectrum disorders, including current methods of evaluation, identification, and management. Coverage of systems of care features new information on how to help families obtain high-quality and cost-effective coordinated services within our complex health care system. Easy-to-find boxes in the chronic conditions chapters summarize important information on treatment, associated problems, clinical manifestations, and differential diagnosis.