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Pathogenesis And Therapy Of Duchenne And Becker Muscular Dystrophy
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Book Synopsis Pathogenesis and Therapy of Duchenne and Becker Muscular Dystrophy by : Byron Arthur Kakulas
Download or read book Pathogenesis and Therapy of Duchenne and Becker Muscular Dystrophy written by Byron Arthur Kakulas and published by Raven Press (ID). This book was released on 1990 with total page 273 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Book Synopsis Duchenne Muscular Dystrophy by : Jeffrey S. Chamberlain
Download or read book Duchenne Muscular Dystrophy written by Jeffrey S. Chamberlain and published by CRC Press. This book was released on 2006-02-27 with total page 351 pages. Available in PDF, EPUB and Kindle. Book excerpt: Duchenne Muscular Dystrophy (DMD) is one of the most prevalent genetic disorders of childhood for which there is no cure. This authoritative guide provides a clear overview of the clinical, genetic, and pathophysiological aspects of the disease in the context of emerging therapeutic modalities. The only available source on the subject, this reference emphasizes the importance of accurate diagnosis, carrier detection, and genetic counseling, and supplies state-of-the-art information on pharmacological interventions, regenerative medicine, and gene therapy.
Book Synopsis Understanding the Pathogenesis of Duchenne Muscular Dystrophy Using a Caenorhabditis Elegans Model by : Kiley J. Hughes-Wiles
Download or read book Understanding the Pathogenesis of Duchenne Muscular Dystrophy Using a Caenorhabditis Elegans Model written by Kiley J. Hughes-Wiles and published by . This book was released on 2022 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Duchenne muscular dystrophy (DMD) is an x-linked degenerative disease that affects one out of every 3,500 males. This disease is produced by loss of function mutations in the dystrophin gene that results in the absence of the dystrophin protein from muscles and other tissues. Loss of dystrophin leads to progressive muscle weakness, loss of ambulation, and premature death. At the cellular level, patients present with increased sarcoplasmic calcium, loss of sarcomeric integrity, and mitochondrial damage. There is no cure for DMD. Understanding the progression of the disease and developing effective treatments has been hampered by lack of animal models able to recapitulate the disease at both the genotypic and phenotypic levels. Our lab recently showed that dystrophic C. elegans nematodes (dys-1) raised in burrowing environments recapitulate key phenotypes associated with dystrophic patients. My doctoral work focuses on understanding the progression of Duchenne muscular dystrophy, and in identifying molecular pathways that may be amenable to therapeutic interventions. My dissertation evaluates the extent to which dystrophic nematodes model Duchenne muscular dystrophy; contributes to our understanding of the pathophysiology of this disorder; and investigates different potential therapeutic avenues that might help stop or slow down the progression of this disease. In chapter I, I develop a method for modeling neurodegenerative diseases in C. elegans by altering their culture conditions to closely match what worms experience in nature. By having worms burrow in three dimensions through agar, rather than crawl around on an agar plate as is typically done in the lab, muscular exertion is increased and dystrophin mutants show locomotor defects. In chapter II I further characterize our dystrophic animals. I find that burrowing dystrophic worms undergo severe muscle degeneration, are slower in speed, do not develop normally, have swollen mitochondria, and die prematurely. Like human patients, dystrophic worms have excess levels of calcium. Furthermore, I found that while calcium release from the sarcoplasmic reticulum occurs normally, calcium clearance following a contraction cycle is slower. I found that deficits are already apparent in freshly-hatched larvae. These include excess calcium and slower development. During normal muscle function, calcium is important in both force generation but also in proprioceptive feedback. In chapter IV I discuss the mechanoreceptor pezo-1. Here, we focus on both the expression and function of different isoforms of pezo-1, which is the building blocks for an ongoing project exploring the role of long pezo-1 isoforms in body wall muscle and production of normal locomotion. Understanding how healthy muscles function and adapt is necessary to uncovering how muscles fail in disease states such as DMD. Dystrophic nematodes model known Duchenne muscular dystrophy pathology with a high degree of genotypic and phenotypic faithfulness which, coupled with its great experimental amenability, makes dystrophic worms a useful vehicle to understand this disorder and develop new therapeutics able to slow degeneration and improve the lives of Duchenne muscular dystrophy patients.
Book Synopsis Mechanisms in Duchenne Muscular Dystrophy Pathophysiology and Treatment by : Atsushi Asakura
Download or read book Mechanisms in Duchenne Muscular Dystrophy Pathophysiology and Treatment written by Atsushi Asakura and published by Frontiers Media SA. This book was released on 2023-09-07 with total page 150 pages. Available in PDF, EPUB and Kindle. Book excerpt:
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 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 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 Duchenne Muscular Dystrophy by : Samuel Alexandre Almeida Honorio
Download or read book Duchenne Muscular Dystrophy written by Samuel Alexandre Almeida Honorio and published by . This book was released on 2015-04-01 with total page 200 pages. Available in PDF, EPUB and Kindle. Book excerpt: A child with Duchenne Muscular Dystrophy (DMD) faces a childhood and adolescence with a disability that develops gradually. This book intends to expose the problems of children with DMD. The authors discuss situations related to the disease in an attempt to provide some quality and improvement of life for those affected since DMD is a degenerative disease which affects muscle. This book offers a historical study of muscular dystrophy. It also shows some profiles of excellent clinicians and scientists that have contributed to this book with a description of muscular dystrophy from the clinical picture, to the latest techniques in genetics. Also included in the chapters are resolutions of several approaches to DMD, like scales, in order to anticipate how to manage the disease. This book relates some techniques of moderate exercise, like Yoga and water exercises, that are compliable with some advantages in mobility. The book concludes with some current trends and what can be done in the future. This book can be a good read to everyone that is interested in DMD, and also for the ones who know or provide care for those with this terrible disease.
Book Synopsis Muscle Gene Therapy by : Dongsheng Duan
Download or read book Muscle Gene Therapy written by Dongsheng Duan and published by Springer Science & Business Media. This book was released on 2009-11-26 with total page 281 pages. Available in PDF, EPUB and Kindle. Book excerpt: Muscle disease represents an important health threat to the general population. There is essentially no cure. Gene therapy holds great promise to correct the genetic defects and eventually achieve full recovery in these diseases. Significant progresses have been made in the field of muscle gene therapy over the last few years. The development of novel gene delivery vectors has substantially enhanced specificity and efficiency of muscle gene delivery. The new knowledge on the immune response to viral vectors has added new insight in overcoming the immune obstacles. Most importantly, the field has finally moved from small experimental animal models to human patients. This book will bring together the leaders in the field of muscle gene transfer to provide an updated overview on the progress of muscle gene therapy. It will also highlight important clinical applications of muscle gene therapy.
Author :National Organization for Rare Disorders Publisher :Lippincott Williams & Wilkins ISBN 13 :9780781730631 Total Pages :982 pages Book Rating :4.7/5 (36 download)
Book Synopsis NORD Guide to Rare Disorders by : National Organization for Rare Disorders
Download or read book NORD Guide to Rare Disorders written by National Organization for Rare Disorders and published by Lippincott Williams & Wilkins. This book was released on 2003 with total page 982 pages. Available in PDF, EPUB and Kindle. Book excerpt: NORD Guide to Rare Disorders is a comprehensive, practical, authoritative guide to the diagnosis and management of more than 800 rare diseases. The diseases are discussed in a uniform, easy-to-follow format--a brief description, signs and symptoms, etiology, related disorders, epidemiology, standard treatment, investigational treatment, resources, and references.The book includes a complete directory of orphan drugs, a full-color atlas of visual diagnostic signs, and a Master Resource List of support groups and helpful organizations. An index of symptoms and key words offers physicians valuable assistance in finding the information they need quickly.
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 The History of a Genetic Disease by :
Download or read book The History of a Genetic Disease written by and published by . This book was released on 2011 with total page 231 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Book Synopsis Imaging Acute Neurologic Disease by : Massimo Filippi
Download or read book Imaging Acute Neurologic Disease written by Massimo Filippi and published by Cambridge University Press. This book was released on 2014-09-11 with total page 393 pages. Available in PDF, EPUB and Kindle. Book excerpt: A comprehensive survey of best practice in using diagnostic imaging in acute neurologic conditions. The symptom-based approach guides the choice of the available imaging tools for efficient, accurate, and cost-effective diagnosis. Effective examination algorithms integrate neurological and imaging concepts with the practical demands and constraints of emergency care.
Book Synopsis Neurodegenerative Diseases by : Shamim I. Ahmad
Download or read book Neurodegenerative Diseases written by Shamim I. Ahmad and published by Springer Science & Business Media. This book was released on 2012-03-12 with total page 421 pages. Available in PDF, EPUB and Kindle. Book excerpt: The editor of this volume, having research interests in the field of ROS production and the damage to cellular systems, has identified a number of enzymes showing ·OH scavenging activities details of which are anticipated to be published in the near future as confirmatory experiments are awaited. It is hoped that the information presented in this book on NDs will stimulate both expert and novice researchers in the field with excellent overviews of the current status of research and pointers to future research goals. Clinicians, nurses as well as families and caregivers should also benefit from the material presented in handling and treating their specialised cases. Also the insights gained should be valuable for further understanding of the diseases at molecular levels and should lead to development of new biomarkers, novel diagnostic tools and more effective therapeutic drugs to treat the clinical problems raised by these devastating diseases.
Book Synopsis Anesthesia and Uncommon Diseases E-Book by : Lee A. Fleisher
Download or read book Anesthesia and Uncommon Diseases E-Book written by Lee A. Fleisher and published by Elsevier Health Sciences. This book was released on 2012-05-01 with total page 662 pages. Available in PDF, EPUB and Kindle. Book excerpt: Your awareness of uncommon diseases and possible complications is vital to successful anesthetic patient management. Anesthesia and Uncommon Diseases, 6th Edition, brings you up to date with new information on less commonly seen diseases and conditions, including the latest evidence and management guidelines. This unique medical reference book is essential for a complete understanding of today's best options and potential difficulties in anesthesia. - Improve your ability to successfully manage every patient, including those with rare diseases or conditions. - Avoid complications with unique coverage of an important aspect of anesthetic management. - Access the complete contents and illustrations online at www.expertconsult.com - fully searchable! - Stay current with all-new chapters on adult congenital heart disease, rheumatic diseases, and the cancer patient, plus many more revisions throughout. - Get outstanding visual guidance with hundreds of illustrations, now in full color.
Book Synopsis Rare Disease Drug Development by : Raymond A. Huml
Download or read book Rare Disease Drug Development written by Raymond A. Huml and published by Springer Nature. This book was released on 2021-11-08 with total page 418 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book provides a broad overview of rare disease drug development. It offers unique insights from various perspectives, including third-party capital providers, caregivers, patient advocacy groups, drug development professionals, marketing and commercial experts, and patients. A unique reference, the book begins with narratives on the many challenges faced by rare disease patient and their caregivers. Subsequent chapters underscore the critical, multidimensional role of patient advocacy groups and the novel approaches to related clinical trials, investment decisions, and the optimization of rare disease registries. The book addresses various rare disease drug development processes by disciplines such as oncology, hematology, pediatrics, and gene therapy. Chapters then address the operational aspects of drug development, including approval processes, development accelerations, and market access strategies. The book concludes with reflections on the authors' case for real-world data and evidence generation in orphan medicinal drug development. Rare Disease Drug Development is an expertly written text optimized for biopharmaceutical R&D experts, commercial experts, third-party capital providers, patient advocacy groups, patients, and caregivers.
Book Synopsis Selections from the Clinical Works of Dr. Duchenne (de Boulogne). by : Guillaume-Benjamin Duchenne
Download or read book Selections from the Clinical Works of Dr. Duchenne (de Boulogne). written by Guillaume-Benjamin Duchenne and published by . This book was released on 1883 with total page 518 pages. Available in PDF, EPUB and Kindle. Book excerpt:
