Symposium On Recent Advances In Hereditary Neuromuscular Diseases Of Childhood PDF Download

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Inherited Neuromuscular Diseases

Inherited Neuromuscular Diseases
Author: Carmen Espinós
Publisher: Springer Science & Business Media
Total Pages: 311
Release: 2010-03-11
Genre: Medical
ISBN: 9048128137

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This reference on the state-of-the-art of neuromuscular diseases as a whole offers a current review of inherited neuromuscular diseases under different approaches: genetics, pathomechanisms, therapies and treatments.


Current Catalog

Current Catalog
Author: National Library of Medicine (U.S.)
Publisher:
Total Pages: 1628
Release: 1993
Genre: Medicine
ISBN:

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First multi-year cumulation covers six years: 1965-70.


Index of Conference Proceedings

Index of Conference Proceedings
Author: British Library. Document Supply Centre
Publisher:
Total Pages: 870
Release: 2001
Genre: Conference proceedings
ISBN:

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The Muscular Dystrophies

The Muscular Dystrophies
Author: Alan E. H. Emery
Publisher:
Total Pages: 338
Release: 2001
Genre: Medical
ISBN:

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The muscular dystrophies are an important group of inherited disorders. They are characterized by muscle wasting and weakness, but vary considerably in their clinical manifestations and severity. This text reviews our understanding of the most important of these disorders. In many instances, the genes and protein products responsible for the dystrophies have been identified and it is now possible to establish a precise diagnosis, detect preclinical cases, identify carriers and offer prenatal dianostic testing. The book goes on to describe the opportunities for management of the symptoms through respiratory care, physiotherapy and surgical correction of contracture, and examines the potential, in the future, for effective treatment utilizing the new techniques of gene and cell therapy. Professor Emery has invited chapters from the leading international experts in the field providing a unique insight into the current situation and the hopes for the future.


Selected Health Conditions and Likelihood of Improvement with Treatment

Selected Health Conditions and Likelihood of Improvement with Treatment
Author: National Academies of Sciences, Engineering, and Medicine
Publisher: National Academies Press
Total Pages: 319
Release: 2020-07-12
Genre: Medical
ISBN: 0309670950

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The Social Security Administration (SSA) administers two programs that provide disability benefits: the Social Security Disability Insurance (SSDI) program and the Supplemental Security Income (SSI) program. SSDI provides disability benefits to people (under the full retirement age) who are no longer able to work because of a disabling medical condition. SSI provides income assistance for disabled, blind, and aged people who have limited income and resources regardless of their prior participation in the labor force. Both programs share a common disability determination process administered by SSA and state agencies as well as a common definition of disability for adults: "the inability to engage in any substantial gainful activity by reason of any medically determinable physical or mental impairment which can be expected to result in death or which has lasted or can be expected to last for a continuous period of not less than 12 months." Disabled workers might receive either SSDI benefits or SSI payments, or both, depending on their recent work history and current income and assets. Disabled workers might also receive benefits from other public programs such as workers' compensation, which insures against work-related illness or injuries occurring on the job, but those other programs have their own definitions and eligibility criteria. Selected Health Conditions and Likelihood of Improvement with Treatment identifies and defines the professionally accepted, standard measurements of outcomes improvement for medical conditions. This report also identifies specific, long-lasting medical conditions for adults in the categories of mental health disorders, cancers, and musculoskeletal disorders. Specifically, these conditions are disabling for a length of time, but typically don't result in permanently disabling limitations; are responsive to treatment; and after a specific length of time of treatment, improve to the point at which the conditions are no longer disabling.


Research Grants Index

Research Grants Index
Author: National Institutes of Health (U.S.). Division of Research Grants
Publisher:
Total Pages: 1098
Release: 1964
Genre: Medicine
ISBN:

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Neurological, Psychiatric, and Developmental Disorders

Neurological, Psychiatric, and Developmental Disorders
Author: Institute of Medicine
Publisher: National Academies Press
Total Pages: 458
Release: 2001-01-01
Genre: Medical
ISBN: 0309170931

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Brain disordersâ€"neurological, psychiatric, and developmentalâ€"now affect at least 250 million people in the developing world, and this number is expected to rise as life expectancy increases. Yet public and private health systems in developing countries have paid relatively little attention to brain disorders. The negative attitudes, prejudice, and stigma that often surround many of these disorders have contributed to this neglect. Lacking proper diagnosis and treatment, millions of individual lives are lost to disability and death. Such conditions exact both personal and economic costs on families, communities, and nations. The report describes the causes and risk factors associated with brain disorders. It focuses on six representative brain disorders that are prevalent in developing countries: developmental disabilities, epilepsy, schizophrenia, bipolar disorder, depression, and stroke. The report makes detailed recommendations of ways to reduce the toll exacted by these six disorders. In broader strokes, the report also proposes six major strategies toward reducing the overall burden of brain disorders in the developing world.


Cassidy and Allanson's Management of Genetic Syndromes

Cassidy and Allanson's Management of Genetic Syndromes
Author: John C. Carey
Publisher: John Wiley & Sons
Total Pages: 1104
Release: 2021-01-27
Genre: Science
ISBN: 1119432677

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MANAGEMENT OF GENETIC SYNDROMES THE MOST RECENT UPDATE TO ONE OF THE MOST ESSENTIAL REFERENCES ON MEDICAL GENETICS Cassidy and Allanson’s Management of Genetic Syndromes, Fourth Edition is the latest version of a classic text in medical genetics. With newly covered disorders and cutting-edge, up-to-date information, this resource remains the most crucial reference on the management of genetic syndromes in the field of medical genetics for students, clinicians, caregivers, and researchers. The fourth edition includes current information on the identification of genetic syndromes (including newly developed diagnostic criteria), the genetic basis (including diagnostic testing), and the routine care and management for more than 60 genetic disorders. Written by experts, each chapter includes sections on: Incidence Diagnostic criteria Etiology, pathogenesis and genetics Diagnostic testing Differential diagnosis Manifestations and Management (by system) The book focuses on genetic syndromes, primarily those involving developmental disabilities and congenital defects. The chapter sections dealing with Manifestations and Management represents the centerpiece of each entry and is unmatched by other genetic syndrome references. Management of Genetic Syndromes is perfect for medical geneticists, genetic counselors, primary care physicians and all healthcare professionals seeking to stay current on the routine care and management of individuals with genetic disorders.