The Muscular Dystrophies

Author : Raymond A. Huml
Publisher : Springer
Page : 191 pages
File Size : 53,9 Mb
Release : 2015-07-16
Category : Medical
ISBN : 9783319173627

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Muscular Dystrophy by Raymond A. Huml Pdf

This practical and concise guide offers an overview of muscular dystrophy's complicated features, treatment options and general resources. New treatments and a greater understanding of proteins and structures associated with MD are discussed along with long term patient care. Also included are clinical and developmental challenges within the current regulatory landscape and recent scientific and clinical advances. Muscular Dystrophy offers clinicians, researchers, pharmaceutical executives and patient advocacy groups an easy-to-read reference that provides the necessary perspectives of the care giver and patient.

Author : George Karpati,David Hilton-Jones,Robert C. Griggs
Publisher : Cambridge University Press
Page : 800 pages
File Size : 41,7 Mb
Release : 2001-07-12
Category : Medical
ISBN : 0521650623

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Disorders of Voluntary Muscle by George Karpati,David Hilton-Jones,Robert C. Griggs Pdf

Rewritten and redesigned, this remains the one essential text on the diseases of skeletal muscle.

Author : Alan E. H. Emery
Publisher : Unknown
Page : 338 pages
File Size : 46,7 Mb
Release : 2001
Category : Medical
ISBN : UOM:39015054284123

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The Muscular Dystrophies by Alan E. H. Emery Pdf

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.

Author : National Institute of Neurological Diseases and Stroke
Publisher : Unknown
Page : 26 pages
File Size : 47,8 Mb
Release : 1971
Category : Muscular dystrophy
ISBN : MINN:31951D03894033U

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Muscular Dystrophy by National Institute of Neurological Diseases and Stroke Pdf

Author : Alan E. H. Emery,Francesco Muntoni,Rosaline C. M. Quinlivan
Publisher : OUP Oxford
Page : 320 pages
File Size : 53,9 Mb
Release : 2015-02-19
Category : Medical
ISBN : 9780191503665

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Duchenne Muscular Dystrophy by Alan E. H. Emery,Francesco Muntoni,Rosaline C. M. Quinlivan Pdf

Duchenne Muscular Dystrophy, an inherited and progressive muscle wasting disease, is one of the most common single gene disorders found in the developed world. In this fourth edition of the classic monograph on the topic, Alan Emery and Francesco Muntoni are joined by Rosaline Quinlivan, Consultant in Neuromuscular Disorders, to provide a thorough update on all aspects of the disorder. Recent understanding of the nature of the genetic defect responsible for Duchenne Muscular Dystrophy and isolation of the protein dystrophin has led to the development of new theories for the disease's pathogenesis. This new edition incorporates these advances from the field of molecular biology, and describes the resultant opportunities for screening, prenatal diagnosis, genetic counselling and from recent pioneering work with anti-sense oligonucleotides, the possibility of effective RNA therapy. Although there is still no cure for the disorder, there have been significant developments concerning the gene basis, publication of standards of care guidelines, and improvements in management leading to significantly longer survival, particularly with cardio-pulmonary care. The authors also investigate other forms of pharmacological, cellular and gene therapies. Duchenne Muscular Dystrophy will be essential reading not only for scientists and clinicians, but will also appeal to therapists and other professionals involved in the care of patients with muscular dystrophy.

Author : Paula Johanson
Publisher : The Rosen Publishing Group, Inc
Page : 66 pages
File Size : 52,8 Mb
Release : 2008-08-15
Category : Self-Help
ISBN : 9781404218505

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Muscular Dystrophy by Paula Johanson Pdf

Describes muscular dystrophy, including the history of the disease, how it is treated, and current medical research towards a cure.

Author : Steve J. Winder
Publisher : CRC Press
Page : 250 pages
File Size : 45,6 Mb
Release : 2019-12
Category : Electronic
ISBN : 0367446375

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Molecular Mechanisms of Muscular Dystrophies by Steve J. Winder Pdf

There is no doubt that the study of the muscular dystrophies in recent years has been exciting and rewarding. It has attracted the attention of many investigators of international repute, and this is reflected in the various contributions to this volume. Molecular Mechanisms of Muscular Dystrophies represents a personal collection of chapters covering a spectrum of muscular dystrophies and one myopathy that represent most of the major muscular dystrophies, and, in particular, those where a molecular understanding of the underlying mechanisms is most advanced, rather than a comprehensive treatise on every muscular dystrophy so far characterized.

Author : Kathryn Wagner
Publisher : Jones & Bartlett Publishers
Page : 288 pages
File Size : 54,7 Mb
Release : 2020-06
Category : Medical
ISBN : 9781284201666

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100 Questions and Answers about Muscular Dystrophy by Kathryn Wagner Pdf

EMPOWER YOURSELF! According to the National Organization for Rare Disorders (NORD), over 250,000 people are affected by muscular dystrophies (MD) in the United States, including Duchenne muscular dystrophy (DMD), myotonic muscular dystrophy (DM), facioscapulohumeral muscular dystrophy (FSHD), and limb-girdle muscular dystrophy (LGMD) among many others. No one with MD needs to be alone in their fight against this rare disorder. That's where this book and the authoritative information within can help. 100 Questions & Answers About Muscular Dystrophy offers essential and practical guidance. This unique book provides both doctor and patient perspectives and offers answers to the most asked questions by patients and their loved ones. Is it safe to exercise? How do I find a clinical trial in which to participate? What are some things to remember when going to the emergency department? What can I do about fatigue? Along with the answers to these and other questions, this book provides information on diagnosis, treatment, living with MD, new therapeutic options, and more. Written by a leading expert on the topic with more than 20 years experience caring for patients with MD, 100 Questions & Answers About Muscular Dystrophy is an easy-to-read book and must-have resource for those living with MD, as well as their loved ones.

Author : Basil T. Darras,H. Royden Jones Jr.,Monique M. Ryan,Darryl C. De Vivo
Publisher : Elsevier
Page : 1156 pages
File Size : 41,8 Mb
Release : 2014-12-03
Category : Medical
ISBN : 9780124171275

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Neuromuscular Disorders of Infancy, Childhood, and Adolescence by Basil T. Darras,H. Royden Jones Jr.,Monique M. Ryan,Darryl C. De Vivo Pdf

Neuromuscular disorders are diagnosed across the lifespan and create many challenges especially with infants, children and adolescents. This new edition of the definitive reference, edited by the established world renowned authorities on the science, diagnosis and treatment of neuromuscular disorders in childhood is a timely and needed resource for all clinicians and researchers studying neuromuscular disorders, especially in childhood. The Second Edition is completely revised to remain current with advances in the field and to insure this remains the standard reference for clinical neurologists and clinical research neurologists. The Second Edition retains comprehensive coverage while shortening the total chapter count to be an even more manageable and effective reference. Carefully revised new edition of the classic reference on neuromuscular disorders in infancy, childhood and adolescence. Definitive coverage of the basic science of neuromuscular disease and the latest diagnosis and treatment best practices. Includes coverage of clinical phenomenology, electrophysiology, histopathology, molecular genetics and protein chemistry

Author : Corrado Angelini
Publisher : Nova Science Publishers
Page : 0 pages
File Size : 43,8 Mb
Release : 2013
Category : Muscular dystrophy
ISBN : 1626184607

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Muscular Dystrophy by Corrado Angelini Pdf

Muscular dystrophies include a heterogeneous series of diseases that range from childhood to adult onset cases, of difficult diagnosis and treatment. This book presents the state of the art in muscular dystrophies, after the molecular revolution.

Author : Alan E. H. Emery
Publisher : Unknown
Page : 190 pages
File Size : 54,8 Mb
Release : 2000
Category : Medical
ISBN : 0192632175

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Muscular Dystrophy by Alan E. H. Emery Pdf

The muscular dystrophies are a group of genetic diseases that severely affect children and adults. For sufferers and their family, the illness presents enormous physical and psychological challenges. Written specifically for people with muscular dystrophy and their families, this new editionof Muscular dystrophy: the facts answers many of the questions asked about how and why it occurs, and how it will affect the life of a recently diagnosed child. Throughout, the different types of muscular dystrophy are described with a minimum of technical jargon. Questions relating to exercise,physiotherapy, surgery, and the emotional effects of the diseases are answered, and advice given on the problems of schooling and choice of career. Since publication of the 1st edition, the genes for almost all the different types of dystrophy have been identified, enabling prevention throughgenetic counselling, and relieving some of the worry for affected families. Drawn from his many years of experience treating patients, Professor Emery provides authoritative, yet compassionate advice for people living with this illness. From reviews of 1st edition 'A family visiting a geneticcounsellor readied with information from this book would be well versed in the scope of concerns that can arise as families live with MD. I applaud the effort to make this care package of information available to families.' The American Journal of Human Genetics

Author : Robert C. Griggs,Anthony A. Amato
Publisher : Elsevier
Page : 282 pages
File Size : 42,6 Mb
Release : 2011-05-24
Category : Medical
ISBN : 9780444534897

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Muscular Dystrophies by Robert C. Griggs,Anthony A. Amato Pdf

The Handbook of Clinical Neurology Vol 101: Muscular Dystrophies discusses the pathogenesis and treatment prospects for muscular dystrophies. It summarizes the advances in molecular and cell biology, biochemistry, and other biological sciences, with an emphasis on their application to this group of muscle disorders and to their clinical implications. Starting with an overview of muscular dystrophies, the book’s 16 chapters discuss dystrophinopathies; sarcoglycanopathies; congenital muscular dystrophies; collagen VI-related myopathies; limb-girdle muscular dystrophy 2A; dysferlinopathies; limb-girdle muscular dystrophy 2H and the role of TRIM32; and caveolinopathies. The book also covers myofibrillar myopathies; Emery–Dreifuss muscular dystrophy; facioscapulohumeral dystrophy and scapuloperoneal syndromes; oculopharyngeal muscular dystrophy; myotonic dystrophy types 1 and 2; and distal muscular dystrophies. This book is useful to basic investigators, as it offers an increased understanding of muscular dystrophies; and to clinicians, with its emphasis on issues that are relevant to the care, diagnosis, and management of patients with these disorders. Valuable insights into the muscular dystrophies, including treatment, diagnosis, and care and patient management A comprehensive compilation of the combined wisdom of the most highly regarded physicians, experts, and scientists studying the muscular dystrophies An evaluation of the way advances in molecular and cell biology, biochemistry, and other biological sciences continue to advance the study of these disorders

Author : Madhuri Hegde,Arunkanth Ankala
Publisher : BoD – Books on Demand
Page : 558 pages
File Size : 45,5 Mb
Release : 2012-05-09
Category : Medical
ISBN : 9789535106036

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Muscular Dystrophy by Madhuri Hegde,Arunkanth Ankala Pdf

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.

Author : Fred F. Ferri
Publisher : Elsevier Health Sciences
Page : 2136 pages
File Size : 55,9 Mb
Release : 2019-06-01
Category : Medical
ISBN : 9780323679770

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Ferri's Clinical Advisor 2020 E-Book by Fred F. Ferri Pdf

Significantly updated with the latest developments in diagnosis and treatment recommendations, Ferri’s Clinical Advisor 2020 features the popular "5 books in 1" format to organize vast amounts of information in a clinically relevant, user-friendly manner. This efficient, intuitive format provides quick access to answers on 1,000 common medical conditions, including diseases and disorders, differential diagnoses, and laboratory tests – all reviewed by experts in key clinical fields. Updated algorithms, along with hundreds of new figures, tables, and boxes, ensure that you stay current with today’s medical practice. Contains significant updates throughout, covering all aspects of current diagnosis and treatment. Features 27 all-new topics including chronic traumatic encephalopathy, medical marijuana, acute respiratory failure, gallbladder carcinoma, shift work disorder, radial tunnel syndrome, fertility preservation in women, fallopian tube cancer, primary chest wall cancer, large-bowel obstruction, inguinal hernia, and bundle branch block, among others. Includes a new appendix covering Physician Quality Reporting System (PQRS) Measures. Provides current ICD-10 insurance billing codes to help expedite insurance reimbursements. Patient Teaching Guides for many of the diseases and disorders are included, most available in both English and Spanish versions, which can be downloaded and printed for patients.

Author : Balan Louis Gaspar,Rakesh Kumar Vasishta,Bishan Dass Radotra
Publisher : Springer
Page : 299 pages
File Size : 50,9 Mb
Release : 2018-09-24
Category : Medical
ISBN : 9789811314629

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Myopathology by Balan Louis Gaspar,Rakesh Kumar Vasishta,Bishan Dass Radotra Pdf

This book covers all aspects of basic, essential, recent advances and controversies in myopathology. The major emphasis is on diagnostic myopathology of muscular dystrophies, inflammatory myopathies, mitochondrial myopathies, metabolic myopathies, congenital myopathies, myopathies of miscellaneous etiology, neurogenic and neuromuscular junction disorders, the goal being to broaden readers’ understanding of individual disease subgroups. The book also contains all the essential details needed to establish a neuromuscular lab, making it especially relevant for laboratory technical staff and research scholars.