Download or read book Beyond Borders Myotonic Dystrophies A European Perception written by Benedikt Schoser and published by Frontiers Media SA. This book was released on 2019-01-21 with total page 148 pages. Available in PDF, EPUB and Kindle. Book excerpt: Myotonic dystrophies (DMs) are pleotropic multisystemic diseases. These dominantly transmitted repeat disorders affect multiple organs of the human body at all ages – from the newborns to the elderly. The present Research Topic represents a timely addition to the expanding body of evidence which aims to provide novel perspectives in our understanding of myotonic dystrophies. This collection of original contributions and standpoint reviews from multiple leading DM centres in Europe describes the state of the art for the characterization of the DMs diseases, the development of molecular strategies to target its multisystemic nature, and provides evidence of screening and testing novel therapeutic avenues.
Download or read book Beyond Borders Myotonic Dystrophies A European Perception written by and published by . This book was released on 2019 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Myotonic dystrophies (DMs) are pleotropic multisystemic diseases. These dominantly transmitted repeat disorders affect multiple organs of the human body at all ages - from the newborns to the elderly. The present Research Topic represents a timely addition to the expanding body of evidence which aims to provide novel perspectives in our understanding of myotonic dystrophies. This collection of original contributions and standpoint reviews from multiple leading DM centres in Europe describes the state of the art for the characterization of the DMs diseases, the development of molecular strategies to target its multisystemic nature, and provides evidence of screening and testing novel therapeutic avenues.
Download or read book Oxford Textbook of Neuromuscular Disorders written by David Hilton-Jones and published by Oxford Textbooks in Clinical N. This book was released on 2014 with total page 399 pages. Available in PDF, EPUB and Kindle. Book excerpt: 'The Oxford Textbook of Neuromuscular Disorders' covers the scientific basis, clinical diagnosis, and treatment of neuromuscular disorders, with a particular focus on the most clinically relevant disorders
Download or read book Myotonic Dystrophy written by Masanori P. Takahashi and published by Springer. This book was released on 2018-10-31 with total page 214 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book provides an essential overview combining both clinical and fundamental research advances in myotonic dystrophy. The pathomechanism of myotonic dystrophy has long been unclear, but in the past decade, our understanding has shifted to a novel disease mechanism concept: “RNA disease”. Parallel to these advances in elucidating the pathophysiology, translational research is also progressing rapidly. The current challenge lies in assessing the effectiveness of treatment, and as such, there is a growing interest in observational studies of the disease’s various clinical symptoms. The book introduces readers to the molecular mechanisms within each organ and the resultant clinical features, which are presented together. In particular, it focuses on the central nervous system, since the pathology of the brain (central nervous system manifestation) has rarely been addressed systematically and will pose a persistent challenge, even if therapies have greatly advanced in the future. In addition, the book addresses the latest developments, such as research using patient-derived iPS cells and therapeutic research. Myotonic Dystrophy provides essential information for neurologists and researchers with an interest in muscle disease, including muscular dystrophy. Furthermore, since the disease involves various complications of the brain, heart, metabolism, etc., the book will be of great value to clinicians and researchers in the cardiovascular sciences, endocrinology, diabetes, dementia, and neuropsychology, as well as genetic specialists.
Download or read book A Video Atlas of Neuromuscular Disorders written by Aziz Shaibani and published by Oxford University Press. This book was released on 2014-09-25 with total page 304 pages. Available in PDF, EPUB and Kindle. Book excerpt: The first real cases video atlas of neuromuscular disorders that is supplemented with multiple-choice questions, and updates on the illustrated topics. It is easy to search and read. It is perfect for preparation to the neurology and neuromuscular boards and an excellent way to update the experts. By replacing the descriptive text with vivid illustrative videos, the reader will have more time to face the intellectual challenges of these cases instead of trying to build a mental picture of these cases first. Short and well-edited video clips from real clinic stories supplemented with challenging multiple choice questions, provides an excellent way to bridge the gap between overflow of information and short attention span. The chapters are arranged according the symptoms instead of diseases, yet, diseases are listed in the index if one wants to see all videos relevant to a specific disease. Close to 300 video cases* taken directly from a real neuromuscular clinic, illustrating a myriad of disorders and shedding light on their diagnosis, and treatment and giving updates about many of them provides an invaluable approach that should benefit any one who is interested in neuromuscular disorders which comprises more than 50% of presenting disease to general neurologists and even to general practitioners. Some rare diseases are also described, giving an opportunity for the new trainees to see them so that they can diagnosed them if they see them again which may not happen very often. *Due to size limitations, the videos are not included with any eBook version.
Download or read book Heritable Human Genome Editing written by The Royal Society and published by National Academies Press. This book was released on 2021-01-16 with total page 239 pages. Available in PDF, EPUB and Kindle. Book excerpt: Heritable human genome editing - making changes to the genetic material of eggs, sperm, or any cells that lead to their development, including the cells of early embryos, and establishing a pregnancy - raises not only scientific and medical considerations but also a host of ethical, moral, and societal issues. Human embryos whose genomes have been edited should not be used to create a pregnancy until it is established that precise genomic changes can be made reliably and without introducing undesired changes - criteria that have not yet been met, says Heritable Human Genome Editing. From an international commission of the U.S. National Academy of Medicine, U.S. National Academy of Sciences, and the U.K.'s Royal Society, the report considers potential benefits, harms, and uncertainties associated with genome editing technologies and defines a translational pathway from rigorous preclinical research to initial clinical uses, should a country decide to permit such uses. The report specifies stringent preclinical and clinical requirements for establishing safety and efficacy, and for undertaking long-term monitoring of outcomes. Extensive national and international dialogue is needed before any country decides whether to permit clinical use of this technology, according to the report, which identifies essential elements of national and international scientific governance and oversight.
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 Neurogenic Dysphagia written by Tobias Warnecke and published by Springer Nature. This book was released on 2021-03-05 with total page 416 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book is a clinical manual that covers the whole spectrum of swallowing and its disorders. It starts with physiology of swallowing, pathophysiology of disordered deglutition, diagnostic methods (clinical and instrumental) and ends with an in-depth’s and up-to-date presentation of current treatment options. The clinically most relevant topics of dysphagia management on the stroke unit and the intensive care unit are dealt with in separate chapters. Also the closely intertwined issue of nutritional management is specifically addressed. Most importantly, the book covers all obligatory topics of the Flexible Endoscopic Evaluation of Swallowing (FEES)-curriculum, an educational initiative that started in Germany in 2014 and is currently being extended to other European and non-European countries. The book is richly illustrated and an online video section provides a number of typical patient cases. FEES is probably the most commonly chosen method for the objective assessment of swallowing and its disorders. It is used in stroke units, intensive care facilities, geriatric wards but also in rehabilitation clinics and within dedicated outpatient services. This book on neurogenic dysphagia therefore addresses a wide range of different medical disciplines, such as neurologists, geriatricians, intensive care physicians, rehabilitation physicians, gastroenterologists, otolaryngologists, phoniatrists and also speech-language pathologists.
Download or read book Imaging of Small Bowel Colon and Rectum written by Pasquale Paolantonio and published by Springer Science & Business Media. This book was released on 2013-11-08 with total page 182 pages. Available in PDF, EPUB and Kindle. Book excerpt: The new series A-Z Notes in Radiological Practice and Reporting provides practical guides for residents and general radiologists, organized alphabetically, primarily according to disease or condition. All booklets are designed so as to cover a large spectrum of topics referring to different anatomical regions of interest. Entries typically include a short description of pathological and clinical characteristics, guidance on selection of the most appropriate imaging technique, a schematic review of potential diagnostic clues, and useful tips and tricks. The present booklet, enriched by illustrations and schemes, is devoted to gastrointestinal imaging. Major topics in CT and MR imaging of the small bowel, colon, rectum, and anus are treated concisely in alphabetical order. For each topic a brief review of clinical features and pathology is presented, followed by a short description of imaging technique and an accurate review of imaging findings and signs which are useful in the differential diagnosis of gastrointestinal disease.
Download or read book The ESC Textbook of Cardiovascular Medicine written by A. John Camm and published by . This book was released on 2019 with total page 3198 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Relieving Pain in America written by Institute of Medicine and published by National Academies Press. This book was released on 2011-10-26 with total page 383 pages. Available in PDF, EPUB and Kindle. Book excerpt: Chronic pain costs the nation up to $635 billion each year in medical treatment and lost productivity. The 2010 Patient Protection and Affordable Care Act required the Department of Health and Human Services (HHS) to enlist the Institute of Medicine (IOM) in examining pain as a public health problem. In this report, the IOM offers a blueprint for action in transforming prevention, care, education, and research, with the goal of providing relief for people with pain in America. To reach the vast multitude of people with various types of pain, the nation must adopt a population-level prevention and management strategy. The IOM recommends that HHS develop a comprehensive plan with specific goals, actions, and timeframes. Better data are needed to help shape efforts, especially on the groups of people currently underdiagnosed and undertreated, and the IOM encourages federal and state agencies and private organizations to accelerate the collection of data on pain incidence, prevalence, and treatments. Because pain varies from patient to patient, healthcare providers should increasingly aim at tailoring pain care to each person's experience, and self-management of pain should be promoted. In addition, because there are major gaps in knowledge about pain across health care and society alike, the IOM recommends that federal agencies and other stakeholders redesign education programs to bridge these gaps. Pain is a major driver for visits to physicians, a major reason for taking medications, a major cause of disability, and a key factor in quality of life and productivity. Given the burden of pain in human lives, dollars, and social consequences, relieving pain should be a national priority.
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 206 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 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?
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.
Download or read book Arthrogryposis written by Lynn T. Staheli and published by Cambridge University Press. This book was released on 1998-04-28 with total page 302 pages. Available in PDF, EPUB and Kindle. Book excerpt: The term arthrogryposis describes a range of congenital contractures that lead to childhood deformities. It encompasses a number of syndromes and sporadic deformities that are rare individually but collectively are not uncommon. Yet, the existing medical literature on arthrogryposis is sparse and often confusing. The aim of this book is to provide individuals affected with arthrogryposis, their families, and health care professionals with a helpful guide to better understand the condition and its therapy. With this goal in mind, the editors have taken great care to ensure that the presentation of complex clinical information is at once scientifically accurate, patient oriented, and accessible to readers without a medical background. The book is authored primarily by members of the medical staff of the Arthrogryposis Clinic at Children's Hospital and Medical Center in Seattle, Washington, one of the leading teams in the management of the condition, and will be an invaluable resource for both health care professionals and families of affected individuals.
Download or read book Clinical Management of Male Infertility written by Giorgio Cavallini and published by Springer. This book was released on 2014-10-20 with total page 180 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book provides andrologists and other practitioners with reliable, up-to-date information on all aspects of male infertility and is designed to assist in the clinical management of patients. Clear guidance is offered on classification of infertility, sperm analysis interpretation and diagnosis. The full range of types and causes of male infertility are then discussed in depth. Particular attention is devoted to poorly understood conditions such as unexplained couple infertility and idiopathic male infertility, but the roles of diverse disorders, health and lifestyle factors and environmental pollution are also fully explored. Research considered stimulating for the reader is highlighted, reflecting the fascinating and controversial nature of the field. International treatment guidelines are presented and the role of diet and dietary supplements is discussed in view of their increasing importance. Clinicians will find that the book’s straightforward approach ensures that it can be easily and rapidly consulted.
Download or read book Electrodiagnosis in Diseases of Nerve and Muscle written by Jun Kimura and published by Oxford University Press. This book was released on 2013-10 with total page 1177 pages. Available in PDF, EPUB and Kindle. Book excerpt: Intended for clinicians who perform electrodiagnostic procedures as an extension of their clinical examination, and for neurologists and physiatrists who are interested in neuromuscular disorders and noninvasive electrodiagnostic methods, particularly those practicing electromyography (EMG) this book provides a comprehensive review of most peripheral nerve and muscle diseases, including specific techniques and locations for performing each test.
