Genetic Neuromuscular Disorders PDF Download
Are you looking for read ebook online? Search for your book and save it on your Kindle device, PC, phones or tablets. Download Genetic Neuromuscular Disorders PDF full book. Access full book title Genetic Neuromuscular Disorders by Corrado Angelini. Download full books in PDF and EPUB format.
Author: Corrado Angelini
Publisher: Springer
ISBN: 3319564544
Category : Medical
Languages : en
Pages : 392
Get Book Here
Book Description
This updated and expanded new edition of a successful book describes genetic diagnostic entities of neuromuscular disorders. Neuromuscular syndromes are presented clinically either as a case study or as an overview from the literature, accompanied by text presenting molecular defects, and differential diagnosis. This collection of neuromuscular disorders features the differential 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.
Author: Corrado Angelini
Publisher: Springer
ISBN: 3319564544
Category : Medical
Languages : en
Pages : 392
Get Book Here
Book Description
This updated and expanded new edition of a successful book describes genetic diagnostic entities of neuromuscular disorders. Neuromuscular syndromes are presented clinically either as a case study or as an overview from the literature, accompanied by text presenting molecular defects, and differential diagnosis. This collection of neuromuscular disorders features the differential 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.
Author: Carmen Espinós
Publisher: Springer Science & Business Media
ISBN: 9048128137
Category : Medical
Languages : en
Pages : 311
Get Book Here
Book Description
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.
Author: H.F. Baars
Publisher: Springer Science & Business Media
ISBN: 1849964718
Category : Medical
Languages : en
Pages : 453
Get Book Here
Book Description
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?
Author: Michael Swash
Publisher: Springer Science & Business Media
ISBN: 1447138341
Category : Medical
Languages : en
Pages : 548
Get Book Here
Book Description
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.
Author: Mike P. Wattjes
Publisher: Springer Science & Business Media
ISBN: 1461465524
Category : Medical
Languages : en
Pages : 432
Get Book Here
Book Description
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: Robert W. Wilmott
Publisher: Elsevier Health Sciences
ISBN: 1455740500
Category : Medical
Languages : en
Pages : 1163
Get Book Here
Book Description
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.
Author: George Karpati
Publisher: Cambridge University Press
ISBN: 9780521650625
Category : Medical
Languages : en
Pages : 800
Get Book Here
Book Description
Rewritten and redesigned, this remains the one essential text on the diseases of skeletal muscle.
Author: Mustafa Salih
Publisher: Springer
ISBN: 9783319431529
Category : Medical
Languages : en
Pages : 700
Get Book Here
Book Description
This book, which will hold global appeal, adopts a problem-based approach to childhood disorders of the nervous system with the aim of supporting practicing child neurologists, pediatricians, and residents in training in their management of children with neurological disorders. Throughout, the practical assistance that it offers is based firmly on the best available current scientific evidence. The various pediatric neurologic diseases and organ systems are covered by pediatric neurologists and scientists from leading university hospitals and health centers in both the developed and the developing world. In addition to the full range of more frequent disorders, the book spans the neurological aspects of neglected tropical diseases and neurogenetic diagnostic and management algorithms utilizing the power of emerging DNA technology. A further feature is the inclusion of didactic videos relating to epileptic and movement disorders. As an open access publication with a strong clinical focus, the book will be a handy and valuable reference and resource for all practitioners who deal with childhood neurological disorders.
Author: Hans H. Goebel
Publisher: John Wiley & Sons
ISBN: 1118635485
Category : Medical
Languages : en
Pages : 731
Get Book Here
Book Description
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.
Author: Alan E. H. Emery
Publisher:
ISBN:
Category : Medical
Languages : en
Pages : 338
Get Book Here
Book Description
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.
