Read Books Online and Download eBooks, EPub, PDF, Mobi, Kindle, Text Full Free.
Inherited Neuromuscular Diseases
Download Inherited Neuromuscular Diseases full books in PDF, epub, and Kindle. Read online Inherited Neuromuscular Diseases ebook anywhere anytime directly on your device. Fast Download speed and no annoying ads. We cannot guarantee that every ebooks is available!
Book Synopsis Inherited Neuromuscular Diseases by : Carmen Espinós
Download or read book Inherited Neuromuscular Diseases written by Carmen Espinós and published by Springer Science & Business Media. This book was released on 2010-03-11 with total page 311 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Book Synopsis Neuromuscular Diseases by : Michael Swash
Download or read book Neuromuscular Diseases written by Michael Swash and published by Springer Science & Business Media. This book was released on 2013-03-14 with total page 548 pages. Available in PDF, EPUB and Kindle. Book excerpt: Nine years have elapsed since the second edition of this book was published. In this time the principal advances in neuromuscular diseases have been in the application of molecular genetics to understanding the aetiology and pathogenesis of this group of disorders. As a result many previously unrecognised disorders have been charac terised. Some clinical syndromes, such as the limb girdle dystrophies, have become better defined. In many such instances the new genetic information has led to major advances in knowledge of the biology of cell structures, for example, the membrane structural and channel proteins. The clinical syndromes themselves, and their patho logical and electrophysiological characteristics, however, remain as important as ever, since they constitute the clinical problem itself and, indeed, the database from which all other concepts emerge. Knowledge of the pathogenesis, genetics, and molecular biology of neuromuscular disorders is essential both in developing and applying new therapies and preventive measures, and in formulating genetic and prognostic advice. However, this informa tion does not necessarily always define clinically useful syndromes. Myotonia, for example, is an electrophysiological finding in some syndromes in which it is un detectable by clinical examination, although the phenomenon itself was originally defined as a clinical entity. The limb girdle muscular dystrophy syndromes can be defined by severity, distribution of weakness, age of onset, sex distribution and other characteristics and many of these can be better understood by study of the under lying defect in cell structural proteins.
Book Synopsis Neuromuscular Imaging by : Mike P. Wattjes
Download or read book Neuromuscular Imaging written by Mike P. Wattjes and published by Springer Science & Business Media. This book was released on 2013-06-05 with total page 432 pages. Available in PDF, EPUB and Kindle. Book excerpt: Neuromuscular imaging has increasingly become an important tool in the detection and diagnosis of inherited and acquired neuromuscular disease. This book is a groundbreaking radiological and neurological overview of current methods and applications of imaging—including aspects of neuroimaging and musculoskeletal imaging—in patients with inherited, metabolic, and inflammatory muscle diseases. Imaging features are discussed in the context of clincial presentation, histopathology, therapeutic options and differential diagnosis. World leading expert contributors give a comprehensive and didactic review of neuromuscular disorders and available imaging modalities, each illustrated with numerous figures. Topics discussed include: -Modalities such as ultrasound, CT and MRI -Muscle anatomy and physiology -Clinical applications in hereditary and acquired myopathies -Clinical applications in motor neuron disorders and peripheral nerve imaging
Author :IRUN R. COHEN NATHAN BACK (ABEL LAJTHA, JOHN D. LAMBRIS, RODOLFO PAOLETTI.) Publisher : ISBN 13 :9781282824829 Total Pages : pages Book Rating :4.8/5 (248 download)
Book Synopsis Inherited Neuromuscular Diseases by : IRUN R. COHEN NATHAN BACK (ABEL LAJTHA, JOHN D. LAMBRIS, RODOLFO PAOLETTI.)
Download or read book Inherited Neuromuscular Diseases written by IRUN R. COHEN NATHAN BACK (ABEL LAJTHA, JOHN D. LAMBRIS, RODOLFO PAOLETTI.) and published by . This book was released on 2010 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt:
Book Synopsis Clinical Cardiogenetics by : H.F. Baars
Download or read book Clinical Cardiogenetics written by H.F. Baars and published by Springer Science & Business Media. This book was released on 2010-12-25 with total page 453 pages. Available in PDF, EPUB and Kindle. Book excerpt: Clinical management and signs are the focus of this practical cardiogenetic reference for those who are involved in the care for cardiac patients with a genetic disease. With detailed discussion of the basic science of cardiogenetics in order to assist in the clinical understanding of the topic. The genetic causes of various cardiovascular diseases are explained in a concise clinical way that reinforces the current management doctrine in a practical manner. The authors will cover the principles of molecular genetics in general but also specific to cardiac diseases. They will discuss the etiology, pathogenesis, pathophysiology, clinical presentation, clinical diagnosis, molecular diagnosis and treatment of each cardiogenetic disease separately. Therapy advice, ICD indications, indications for and manner of further family investigation will all be covered, while each chapter will also contain take-home messages to reinforce the key points. The chapters reviewing the different diseases will each contain a table describing the genes involved in each. Each chapter will also contain specific illustrations, cumulatively giving a complete, practical review of each cardiogenetic disease separately. Special emphasis will be given to advice on how to diagnose and manage cardiogenetic diseases in clinical practice, which genes should be investigated and why, and the pros and cons of genetic testing. Guidelines for investigation in families with sudden cardiac death at young age will also be included. This book will be written for the general cardiologist and the clinical geneticist who is involved in cardiac patients and will provide answers to question such as: Which genes are involved and which mutations? What is the effect of the mutation at cellular level? Which genes should be tested and why? What is the value of a molecular diagnosis? Does it influence therapy? When should the first degree relatives be tested and in which way?
Book Synopsis Muscle Gene Therapy by : Dongsheng Duan
Download or read book Muscle Gene Therapy written by Dongsheng Duan and published by Springer. This book was released on 2019-03-30 with total page 811 pages. Available in PDF, EPUB and Kindle. Book excerpt: About 7 million people worldwide are suffering from various inherited neuromuscular diseases. Gene therapy brings the hope of treating these diseases at their genetic roots. Muscle Gene Therapy is the only book dedicated to this topic. The first edition was published in 2010 when the field was just about to enter its prime time. The progress made since then has been unprecedented. The number of diseases that have been targeted by gene therapy has increased tremendously. The gene therapy toolbox is expanded greatly with many creative novel strategies (such as genome editing and therapy with disease-modifying genes). Most importantly, clinical benefits have begun to emerge in human patients. To reflect rapid advances in the field, we have compiled the second edition of Muscle Gene Therapy with contributions from experts that have conducted gene therapy studies either in animal models and/or in human patients. The new edition offers a much needed, up-to-date overview and perspective on the foundation and current status of neuromuscular disease gene therapy. It provides a framework to the development and regulatory approval of muscle gene therapy drugs in the upcoming years. This book is a must-have for anyone who is interested in neuromuscular disease gene therapy including those in the research arena (established investigators and trainees in the fields of clinical practice, veterinary medicine and basic biomedical sciences), funding and regulatory agencies, and patient community.
Book Synopsis Neuromuscular Disorders of Infancy, Childhood, and Adolescence by : Basil T. Darras
Download or read book Neuromuscular Disorders of Infancy, Childhood, and Adolescence written by Basil T. Darras and published by Elsevier. This book was released on 2014-12-03 with total page 1156 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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
Download or read book Muscle Disease written by Hans H. Goebel and published by John Wiley & Sons. This book was released on 2013-05-29 with total page 731 pages. Available in PDF, EPUB and Kindle. Book excerpt: Written by more than 60 international experts in the field, Muscle Disease embodies the explosion of new concepts and information on the pathology and genetics of muscle disease that has occurred in recent years. In order to accommodate the new complex principles involved, the book is organized around the motor unit and the inherited disorders, in particular, are centered on the ultrastructure and organelles within the muscle fiber. In this way, the wide spectrum of muscle diseases, ranging from neurogenic and inflammatory disorders to those involving defects in a single gene, can be expressed in a logical sequence. For example, disorders that principally involve specific organelles or particular metabolic processes are grouped together, with sections on disorders of the sarcolemma, mitochondria, myofibrils, glycogen and lipid metabolism, etc. Firm reference to clinical aspects and classification of muscle diseases has been maintained throughout the book with an initial clinical overview and with specific clinical sections in each chapter. For ease of navigation through the complex variety of muscle diseases, each chapter has been organized in a standard pattern that allows the reader to easily locate information on individual disease entities in different chapters. This new edition of Muscle Disease: Pathology and Genetics will be a very valuable resource for clinicians, pathologists, geneticists and basic neuroscientists involved in diagnosis, research, treatment and management of patients with muscle disease.
Book Synopsis Disorders of Voluntary Muscle by : George Karpati
Download or read book Disorders of Voluntary Muscle written by George Karpati and published by Cambridge University Press. This book was released on 2001-07-12 with total page 800 pages. Available in PDF, EPUB and Kindle. Book excerpt: Rewritten and redesigned, this remains the one essential text on the diseases of skeletal muscle.
Book Synopsis The Muscular Dystrophies by : Alan E. H. Emery
Download or read book The Muscular Dystrophies written by Alan E. H. Emery and published by . This book was released on 2001 with total page 338 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Book Synopsis Cassidy and Allanson's Management of Genetic Syndromes by : John C. Carey
Download or read book Cassidy and Allanson's Management of Genetic Syndromes written by John C. Carey and published by John Wiley & Sons. This book was released on 2021-01-27 with total page 1104 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Book Synopsis Genetic Neuromuscular Disorders by : Corrado Angelini
Download or read book Genetic Neuromuscular Disorders written by Corrado Angelini and published by Springer. This book was released on 2014-08-22 with total page 354 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book describes the genetic diagnostic entities of neuromuscular disorders. Each neuromuscular syndrome is presented clinically as a case study, accompanied by text reviewing different molecular defects, DNA research and differential diagnosis. This collection of neuromuscular disorders features the different clinical phenotypes related to each genotype and are representative of the whole spectrum of a genetic muscle disorder, helping the clinician and neuromuscular physician to make a diagnosis. Key points for each genetic disease are identified to suggest treatment, when available, or the main clinical exams useful in follow-up of patients. Genetic Neuromuscular Disorders: A Case-Based Approach is aimed at neuromuscular physicians and neurology residents.
Book Synopsis Kendig and Chernick's Disorders of the Respiratory Tract in Children E-Book by : Robert W. Wilmott
Download or read book Kendig and Chernick's Disorders of the Respiratory Tract in Children E-Book written by Robert W. Wilmott and published by Elsevier Health Sciences. This book was released on 2012-02-25 with total page 1163 pages. Available in PDF, EPUB and Kindle. Book excerpt: Kendig, Chernick’s Disorders of the Respiratory Tract in Children is the definitive medical reference book to help you confront critical challenges using the latest knowledge and techniques. You’ll get the state-of-the-art answers you need to offer the best care to young patients. Tackle the toughest challenges and improve patient outcomes with coverage of all the common and rare respiratory problems found in newborns and children worldwide. Get a solid foundation of knowledge to better understand and treat your patients through coverage of the latest basic science and its relevance to clinical problems. Get comprehensive, authoritative coverage on today’s hot topics, such as interstitial lung disease, respiratory disorders in the newborn, congenital lung disease, swine flu, genetic testing for disease and the human genome, inflammatory cytokines in the lung, new radiologic techniques, diagnostic imaging of the respiratory tract, and pulmonary function tests. Learn from the experts with contributions from 100 world authorities in the fields of pediatrics, pulmonology, neurology, microbiology, cardiology, physiology, diagnostic imaging, anesthesiology, otolaryngology, allergy, and surgery.
Book Synopsis Lower Urinary Tract Symptoms in Adults by : Marcus Drake
Download or read book Lower Urinary Tract Symptoms in Adults written by Marcus Drake and published by Springer Nature. This book was released on 2019-11-13 with total page 290 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book provides an in-depth insight into the symptoms and symptom complexes affecting the lower urinary tract and the underlying causative conditions. The emphasis throughout is practical and clinical, with coverage of all levels of the patient pathway. In addition to the extensive guidance on diagnostic assessment and interpretation, the management of voiding and storage lower urinary tract symptoms, including incontinence, is fully described and potential complications and neurological conditions are discussed. Information is also included on relevant basic science and epidemiology. Lower Urinary Tract Symptoms in Adults: A Clinical Approach will be an ideal source of expert knowledge for practitioners in functional urology, urogynecology, and neuro-urology gerontology. .
Book Synopsis Atlas of Neuromuscular Diseases by : Eva L. Feldman
Download or read book Atlas of Neuromuscular Diseases written by Eva L. Feldman and published by Springer. This book was released on 2014-07-23 with total page 335 pages. Available in PDF, EPUB and Kindle. Book excerpt: This atlas presents a comprehensive outline of neuromuscular diseases, written by respected American and European authors. It discusses all aspects of neuromuscular disorders including cranial and spinal nerves, motor neuron diseases, nerve plexus, peripheral nerves, mono- and polyneuropathies, entrapment syndromes, neuromuscular junctions, and muscle disease. Each chapter is structured into the following sections: anatomy, symptoms, signs, pathogenesis, diagnosis and differential diagnosis, therapy and prognosis. The diagnostic tools in neuromuscular disease are explained and practical guidelines are offered on how to advance from symptoms to syndromes. The therapeutic options for each disease are also described. In this new edition, the structure of the chapters has been reorganized and chapters on principles of peripheral nerves, nerve pain, nerve surgery and rehabilitation have been added. The current trend of increased use of imaging techniques such as US and MRI in the diagnosis and follow-up of neuromuscular disorders is also reflected.
Book Synopsis Gene Therapy of the Central Nervous System: From Bench to Bedside by : Michael G. Kaplitt
Download or read book Gene Therapy of the Central Nervous System: From Bench to Bedside written by Michael G. Kaplitt and published by Elsevier. This book was released on 2005-11-11 with total page 372 pages. Available in PDF, EPUB and Kindle. Book excerpt: Few areas of biomedical research provide greater opportunities for radically new therapies for devastating diseases that have evaded treatment so far than gene therapy. This is particularly true for the brain and nervous system, where gene transfer has become a key technology for basic research and has recently been translated to human therapy in several landmark clinical trials. Gene Therapy of the Central Nervous System: From Bench to Bedside represents the first definitive volume on this subject. Edited by two pioneers of neurological gene therapy, this volume contains contributions by leaders who helped create this field and are expanding the promise of gene therapy for the future of basic and clinical neuroscience. Drawing upon this extensive collective experience, this book provides clear and informative reviews on a variety of subjects of interest to anyone exploring or using gene therapy for neurobiological applications in research and clinical praxis. * Presents gene transfer technologies with particular emphases upon novel vehicles, immunological issues and the role of gene therapy in stem cells * Discusses preclinical areas that are likely to translate into clinical studies in the near future, including epilepsy, pain and amyotrophic lateral sclerosis * Includes "insider" information on technological and regulatory issues which can often limit effective translation of even the most promising idea into clinical use
Book Synopsis Atlas of Neuromuscular Diseases by : Eva L. Feldman
Download or read book Atlas of Neuromuscular Diseases written by Eva L. Feldman and published by Springer Nature. This book was released on 2021-02-24 with total page 364 pages. Available in PDF, EPUB and Kindle. Book excerpt: This atlas offers a comprehensive overview of neuromuscular diseases. It discusses all aspects of neuromuscular disorders, including general tools, the cranial and spinal nerves, the nerve plexus, peripheral nerves, mono- and polyneuropathies, entrapment syndromes, the neuromuscular junction, motor neuron diseases, muscle disease, and autonomic involvement. Each chapter is structured into the following sections: anatomy, symptoms, signs, pathogenesis, diagnosis and differential diagnosis, therapy, and prognosis. The diagnostic tools used for neuromuscular disease are explained, and the therapeutic options for each disease are described. This updated third edition includes new chapters addressing a range of topics: from histology to molecular mechanisms, genetic aspects, the mechanisms of emerging new therapies, neuroimaging, neuromuscular disease, and new pathogenic mechanisms. The book aims to be a useful companion for neuromuscular disease. The homogenous structure, illustrations with figures, and representative images makes the atlas easy to read and helpful in understanding neuromuscular problems.