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Approaches In Diagnostic And Care Of Duchenne Becker Muscular Dystrophy
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Book Synopsis Approaches in Diagnostic and Care of Duchenne/Becker Muscular Dystrophy by : Teodora Chamova
Download or read book Approaches in Diagnostic and Care of Duchenne/Becker Muscular Dystrophy written by Teodora Chamova and published by LAP Lambert Academic Publishing. This book was released on 2011-12 with total page 104 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book presents a contemporary approach in the diagnosis, follow-up, treatment and care of Duchenne/Becker muscular dystrophy. Modern genetic tests are used to clarify molecular defects in our patients and to prepare them for future gene therapies. This is the first characterization of the cognitive impairment in Bulgarian patients with dystrophinopathy. The findings of the present study demonstrate that the cognitive profile of patients with dystrophinopathies is characterised by a broad range of intellectual abilities, as in addition to borderline general intellectual abilities, verbal short-term memory, is more severely affected than the long term one. A significant difference was found between general cognitive abilities in patients with an intact Dp140 isoform versus patients whose deletion was incompatible with formation of intact Dp140.
Book Synopsis Duchenne Muscular Dystrophy by : Radenka Kuzmanić Šamija
Download or read book Duchenne Muscular Dystrophy written by Radenka Kuzmaniƒá ≈†amija and published by . This book was released on 2018 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are dystrophinopathies, a group of muscular dystrophies caused by mutations in the dystrophin gene. Duchenne muscular dystrophy is the most common muscular dystrophy that occurs in children. A mutation in the DMD gene leads to a loss of expression of the dystrophin protein, a subsarcolemmal protein that provides strength, stability, and functionality to the myofibrils. Patients with dystrophinopathies with basic progressive weakness of the musculoskeletal system develop complications of many organ systems that significantly contribute to the deterioration of the clinical condition and shorter life expectancy. Multidisciplinary care has extended the patients,Äô life expectancy and the development of subspecialist branches has enabled the improvement of diagnostic methods and treatment. Recently, therapeutic options in the treatment of DMD have advanced significantly, and new genetic and molecular therapies are emerging. The advent of gene therapy as a causal therapy for DMD has placed additional emphasis on diagnosing and treating the disease as early as possible. This achieves an additional prolongation of life expectancy, increases the quality of life in patients with DMD, and provides hope for patients and their families.
Book Synopsis Muscular Dystrophy by : Madhuri Hegde
Download or read book Muscular Dystrophy written by Madhuri Hegde and published by BoD – Books on Demand. This book was released on 2012-05-09 with total page 558 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
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
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 Understanding Muscular Dystrophy by : Carsten Cooper
Download or read book Understanding Muscular Dystrophy written by Carsten Cooper and published by . This book was released on 2015-02-28 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Muscular dystrophy is an extremely heterogeneous group of inherited neuromuscular disorders with over 30 distinct types as well as subtypes known and several more to be recognized and sorted. The book presents an elaborative analysis of the different types of muscular dystrophies, genes related to each subtype, disease diagnosis, management as well as available treatment options. Although every distinct type and subtype of muscular dystrophy is related to a distinct causative gene, most of them have overlapping clinical presentations, making molecular diagnosis certain for both patient management as well as disease diagnosis. Discussions regarding the presently available diagnostic approaches that have revolutionized clinical research are presented in this profound book along with reports regarding the ongoing analyses that display a promise for future therapeutic techniques.
Book Synopsis Muscular Dystrophy by : Madhuri Hegde
Download or read book Muscular Dystrophy written by Madhuri Hegde and published by IntechOpen. This book was released on 2012-05-09 with total page 556 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Book Synopsis Duchenne Muscular Dystrophy by : Helen Posselt
Download or read book Duchenne Muscular Dystrophy written by Helen Posselt and published by . This book was released on 2001 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt:
Book Synopsis Dilated Cardiomyopathy by : Gianfranco Sinagra
Download or read book Dilated Cardiomyopathy written by Gianfranco Sinagra and published by Springer. This book was released on 2019-05-17 with total page 239 pages. Available in PDF, EPUB and Kindle. Book excerpt: This open access book presents a comprehensive overview of dilated cardiomyopathy, providing readers with practical guidelines for its clinical management. The first part of the book analyzes in detail the disease’s pathophysiology, its diagnostic work up as well as the prognostic stratification, and illustrates the role of genetics and gene-environment interaction. The second part presents current and future treatment options, highlighting the importance of long-term and individualized treatments and follow-up. Furthermore, it discusses open issues, such as the apparent healing phenomenon, the early prognosis of arrhythmic events or the use of genetic testing in clinical practice. Offering a multidisciplinary approach for optimizing the clinical management of DCM, this book is an invaluable aid not only for the clinical cardiologists, but for all physicians involved in the care of this challenging disease.
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 2017-10-05 with total page 392 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Book Synopsis Muscular Dystrophy by : Madhuri Hegde
Download or read book Muscular Dystrophy written by Madhuri Hegde and published by IntechOpen. This book was released on 2012-05-09 with total page 556 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Book Synopsis Duchenne Muscular Dystrophy by : Alan E. H. Emery
Download or read book Duchenne Muscular Dystrophy written by Alan E. H. Emery and published by OUP Oxford. This book was released on 2015-02-19 with total page 300 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Book Synopsis Duchenne Muscular Dystrophy by : Daniel Lai
Download or read book Duchenne Muscular Dystrophy written by Daniel Lai and published by . This book was released on 2012 with total page 214 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Book Synopsis Duchenne Muscular Dystrophy by : Alan E. H. Emery
Download or read book Duchenne Muscular Dystrophy written by Alan E. H. Emery and published by Oxford University Press, USA. This book was released on 1988 with total page 317 pages. Available in PDF, EPUB and Kindle. Book excerpt: Based on the author's study of some 200 patients and a detailed review of the literature, this volume provides a comprehensive and clinical account of all aspects of Duchenne muscular dystrophy--the second most common genetic disorder affecting humans. During the last decade, biochemists and molecular biologists have made a huge effort to understand the basic molecular defect. In 1986, when this book was first in press, Professor Emery was able to predict with some confidence that the locus of the gene responsible would soon be identified. The publication of this revised paperback edition offers the opportunity to bring his account up-to-date with a discussion of the isolation of the gene and its unexpected size and complexity, followed by the characterization of the related protein dystrophin, a component of skeletal muscle.
Book Synopsis Neuromuscular Ultrasound E-Book by : Francis Walker
Download or read book Neuromuscular Ultrasound E-Book written by Francis Walker and published by Elsevier Health Sciences. This book was released on 2011-05-18 with total page 209 pages. Available in PDF, EPUB and Kindle. Book excerpt: Neuromuscular Ultrasound demonstrates the use of ultrasound as an alternative to electrodiagnosis in the evaluation of neuromuscular disorders through detailed descriptions and clear illustrations. Drs. Francis Walker and Michael S. Cartwright discuss techniques for visualizing muscles and nerves without painful testing for better patient compliance and more efficient diagnosis. Color illustrations, pearls for the clinician, and ultrasound videos online at www.expertconsult.com, ensure that you'll be able to apply this technology effectively in your practice. - Access the fully searchable text online at www.expertconsult.com, along with ultrasound videos that demonstrate ultrasound evaluation in real time. - Diagnose and manage your patients more quickly and easily by visualizing muscles and nerves without painful testing. - Master the nuances of using ultrasound through the visual instruction of clear images and illustrations. - Minimize patient discomfort while maximizing optimal patient evaluation with a practical focus that covers using ultrasound as a screening tool, provides clinical pearls, and includes comparisons to electrodiagnosis. - Apply the full range of ultrasound applications, including interventional uses (such as ultrasound-guided botulinum toxin and steroid injections), ultrasound of polyneuropathies (often found in diabetics), and more.
Book Synopsis Physical Therapy for Children - E-Book by : Robert J. Palisano
Download or read book Physical Therapy for Children - E-Book written by Robert J. Palisano and published by Elsevier Health Sciences. This book was released on 2014-04-25 with total page 1105 pages. Available in PDF, EPUB and Kindle. Book excerpt: Used as both a core textbook in PT programs and as a clinical reference, Physical Therapy for Children, 4th Edition, provides the essential information needed by PTs, both student and professional, when working with children. Like the previous bestselling editions, the 4th edition follows the practice pattern categories of the Guide to Physical Therapist Practice and uses the IFC model of the disabling process as it presents up-to-date evidence-based coverage of treatment. In this latest edition, Suzann Campbell DeLapp, Robert J. Palisano, and Margo N. Orlin have added more case studies and video clips, additional chapters and Medline-linked references online, and Evidence to Practice boxes to make it easy to find and remember important information. Provides comprehensive foundational knowledge in decision making, screening, development, motor control, and motor learning, the impairments of body function and structure, and the PT management of pediatric disorders. Reflects a family-centered care model throughout to help you understand how to involve children and their caregivers in developing and implementing intervention plans. Emphasizes an evidence-based approach that incorporates the latest research for the best outcomes. Follows the practice pattern guidelines of the Guide to Physical Therapist Practice, 2nd Edition which sets the standard for physical therapy practice. Features the International Classification of Function, Disability, and Health (ICF) of the World Health Organization (WHO) as the model for the disabling process, emphasizing activity rather than functional limitations and participation rather than disability in keeping with the book’s focus on prevention of disability. Provides extensive case studies that show the practical application of material covered in the text and are often accompanied by online video clips illustrating the condition and its management. Makes it easy to access key information with plenty of tables and boxes that organize and summarize important points. Clearly demonstrates important concepts and clinical conditions you’ll encounter in practice with over 800 illustrations. Takes learning to a deeper level with additional resources on the Evolve website featuring: Over 40 video clips that correspond to case studies and demonstrate conditions found in each chapter Helpful resources, including web links Questions and exercises you’ll find helpful when preparing for the pediatric specialist certification exam
Book Synopsis Duchenne Muscular Dystrophy by : Camilla Bernardini
Download or read book Duchenne Muscular Dystrophy written by Camilla Bernardini and published by Humana. This book was released on 2018-08-23 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: This volume explores experimental approaches used to study Duchenne muscular dystrophy (DMD), an X-linked degenerative skeletal muscle disease caused by mutations in the dystrophin gene. Including the latest progress and scientific achievements, the book covers recent discoveries achieved through in vivo gene editing which have proven to be promising in restoring dystrophin expression, at least in ameliorating skeletal muscle symptoms, and the contents focus on “Omics” techniques in gene expression, protein expression, miRNAs, and long non-coding RNA analysis, as well as experimental studies of the structural/functional changes affecting the skeletal and cardiac muscles and ongoing preclinical studies and clinical trials. Written in the highly successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls. Authoritative and practical, Duchenne Muscular Dystrophy: Methods and Protocols serves as a guide for researchers exploring the complicated nature of dystrophin in the hope of helping the victims of this disorder.
