Download or read book Muscular Dystrophy written by Raymond A. Huml and published by Springer. This book was released on 2015-07-16 with total page 191 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Duchenne Muscular Dystrophy written by Camilla Bernardini and published by Humana Press. This book was released on 2017-10-25 with total page 287 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.
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 320 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.
Download or read book A Guide to Duchenne Muscular Dystrophy written by Janet Hoskin and published by Jessica Kingsley Publishers. This book was released on 2017-12-14 with total page 232 pages. Available in PDF, EPUB and Kindle. Book excerpt: The prognosis for individuals with Duchenne Muscular Dystrophy (DMD) is improving, with some men with DMD living into their 30s and 40s. More vital than ever, this book helps teachers and parents to support children and young people with DMD with their education and transition into adulthood. Leading experts on DMD explain Duchenne and its impact in easy-to-understand terms. Going beyond physical management, particular focus is put on learning and behavioural issues, including speech delay and difficulty learning to read, as well as common comorbid conditions, such as ADHD, autism and OCD. Raising aspirations, the book gives guidance on effective support in the classroom and advice on the transition to adulthood, employment and independent living.
Download or read book Muscular Dystrophy written by National Institute of Neurological Diseases and Stroke and published by . This book was released on 1971 with total page 26 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book 100 Questions and Answers about Muscular Dystrophy written by Kathryn Wagner and published by Jones & Bartlett Publishers. This book was released on 2020-06 with total page 288 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
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.
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 491 pages. Available in PDF, EPUB and Kindle. Book excerpt: Duchenne Muscular Dystrophy (DMD) is one of the most prevalent genetic disorders of childhood and currently stands as an incurable condition. This authoritative guide provides a clear overview of the latest current and experimental approaches to the treatment of DMD and examines the clinical, genetic, and pathophysiological aspects of the disease i
Download or read book The History of a Genetic Disease written by Alan E. H. Emery and published by Oxford University Press. This book was released on 2011-02-10 with total page 257 pages. Available in PDF, EPUB and Kindle. Book excerpt: Duchenne Muscular Dystrophy is a disease that only affects males, with an incidence of around 1 in 3500 new-born baby boys. Its relentless progress is charterized by loss of the ability to walk by around the age of 10 or 11, leading to a wheelchair life, and dealth from cardiac and respiratory problems usually around the late teens or early twenties. Edward Meryon was the first person to give a full and detailed clinical description of what later research knows as Duchenne Muscular Dystrophy. His research identified many facets of the condition which we now take for granted, for example that it only affects males, that it is an inherited condition carried in female genes, that it is a disease of the muscle system, and its causes. Until recently, Meryon has not been given credit for his contribution to the subject. In this book, the history of Duchenne Muscular Dystrophy is traced in detail, and is interwoven with a commentary of Meryon's research which has led to our current understanding of the disease, will full refences and informative, historically relevant illustrations. This book concludes with a summary of the current position regarding diagnosis, prevention through counselling and prenatal diagnosis, and new encouraging approaches to treatment through molecular genetics.
Download or read book Ferri s Clinical Advisor 2020 E Book written by Fred F. Ferri and published by Elsevier Health Sciences. This book was released on 2019-06-01 with total page 2136 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
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.
Download or read book Dan and DMD written by Joseph Yasmeh and published by . This book was released on 2016-09-01 with total page 34 pages. Available in PDF, EPUB and Kindle. Book excerpt: Dan's an up-beat boy who loves to have a blast. And like many young boys, he was born with Duchenne muscular dystrophy. This is his story.
Download or read book Muscular Dystrophy written by Corrado Angelini and published by Nova Science Publishers. This book was released on 2013 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
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 Muscular Dystrophy written by Leo Rebello and published by CreateSpace. This book was released on 2014-11-24 with total page 154 pages. Available in PDF, EPUB and Kindle. Book excerpt: Muscular Dystrophy - Total Treatment Plan is an original treatise in which the MD patients, their care givers, researchers, teachers, doctors, nurses, and health planners will find reliable knowledge. This 'Do It'book is guaranteed to transform every reader. Right from etiology of the disease, to treatment by different systems of medicine, to counseling and rehabilitation, fascinating case histories and references, reassuring answers to disturbing questions, with appropriate warnings and useful notes, the book has everything in it. See the contents page for more information. Evidence based medicine has much to learn from Holistic Healing or Integration in Medicine to serve the patients.
Download or read book Muscular Dystrophy written by Alan E. H. Emery and published by . This book was released on 2000 with total page 190 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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
Download or read book Moonrise written by Penny Wolfson and published by St. Martin's Press. This book was released on 2014-04-22 with total page 282 pages. Available in PDF, EPUB and Kindle. Book excerpt: Moonrise is Penny Wolfson's first-person account of her family, her son Ansel, and his progressive disability, caused by the genetic disease Duchenne muscular dystrophy. The journey begins when he is born and deemed a particularly beautiful and magical baby, continues with the alarming possibility, at the age of two, of "wrongness," takes us through the diagnosis of disease and prognosis of early death, and brings us to his adolescence, where his parents are never sure if the moon is rising or setting over his life. As she traces her son's development and the impact of his disability on her worldview, she embarks on a quest to understand scientific advances and their implications. (The gene was isolated at approximately the time Ansel was diagnosed.) She also explores special education, giftedness, prenatal testing, and the genetic links she shares with her mother, sisters, and son. Questions about the disease-causing mutation persist: What does knowledge of the self on a molecular level mean? Is genetic self-knowledge our goal now, much as knowledge of the psyche was in the last century? Moonrise is an essential contribution to the dialogue about genetics, as well as a deeply human story about a remarkable child and his family.
