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Beyond Borders Myotonic Dystrophies A European Perception
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Book Synopsis Beyond Borders: Myotonic Dystrophies – A European Perception by : Benedikt Schoser
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.
Book Synopsis Beyond Borders: Myotonic Dystrophies - A European Perception by :
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.
Book Synopsis Myotonic Dystrophy by : Masanori P. Takahashi
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.
Book Synopsis Neurogenic Dysphagia by : Tobias Warnecke
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.
Book Synopsis Heritable Human Genome Editing by : The Royal Society
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.
Book Synopsis A Video Atlas of Neuromuscular Disorders by : Aziz Shaibani
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.
Book Synopsis Sleep Disorders and Sleep Deprivation by : Institute of Medicine
Download or read book Sleep Disorders and Sleep Deprivation written by Institute of Medicine and published by National Academies Press. This book was released on 2006-10-13 with total page 425 pages. Available in PDF, EPUB and Kindle. Book excerpt: Clinical practice related to sleep problems and sleep disorders has been expanding rapidly in the last few years, but scientific research is not keeping pace. Sleep apnea, insomnia, and restless legs syndrome are three examples of very common disorders for which we have little biological information. This new book cuts across a variety of medical disciplines such as neurology, pulmonology, pediatrics, internal medicine, psychiatry, psychology, otolaryngology, and nursing, as well as other medical practices with an interest in the management of sleep pathology. This area of research is not limited to very young and old patientsâ€"sleep disorders reach across all ages and ethnicities. Sleep Disorders and Sleep Deprivation presents a structured analysis that explores the following: Improving awareness among the general public and health care professionals. Increasing investment in interdisciplinary somnology and sleep medicine research training and mentoring activities. Validating and developing new and existing technologies for diagnosis and treatment. This book will be of interest to those looking to learn more about the enormous public health burden of sleep disorders and sleep deprivation and the strikingly limited capacity of the health care enterprise to identify and treat the majority of individuals suffering from sleep problems.
Book Synopsis The Molecular and Genetic Basis of Neurologic and Psychiatric Disease by : Roger N. Rosenberg
Download or read book The Molecular and Genetic Basis of Neurologic and Psychiatric Disease written by Roger N. Rosenberg and published by Lippincott Williams & Wilkins. This book was released on 2008 with total page 930 pages. Available in PDF, EPUB and Kindle. Book excerpt: Completely updated for its Fourth Edition, this book is the most comprehensive, current review of the molecular and genetic basis of neurologic and psychiatric diseases. More than 120 leading experts provide a fresh, new assessment of recent molecular, genetic, and genomic advances, offer new insights into disease pathogenesis, describe the newest available therapies, and explore promising areas of therapeutic development. This edition features an updated section on psychiatric disease and expanded, updated chapters on human genomics, gene therapy, and ethical issues. Six new chapters cover congenital myasthenic syndromes, hereditary spastic paraplegia, ion channel disorders, the phakomatoses, beta-galactosidase deficiency, and prion diseases. A Neurologic Gene Map describes the chromosome locus of all the genetic diseases and their gene product where known. The fully searchable online text will be available on a companion Website. (www.rosenbergneuroandpsychdisease.com)
Book Synopsis Imaging of Small Bowel, Colon and Rectum by : Pasquale Paolantonio
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.
Book Synopsis Progressive Brain Disorders in Childhood by : Juan M. Pascual
Download or read book Progressive Brain Disorders in Childhood written by Juan M. Pascual and published by Cambridge University Press. This book was released on 2017-04-20 with total page 507 pages. Available in PDF, EPUB and Kindle. Book excerpt: A review of childhood neurodegenerative and other progressive but non-degenerative disorders to guide their diagnosis and management.
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 Cardiac Resynchronization Therapy by : Cheuk-Man Yu
Download or read book Cardiac Resynchronization Therapy written by Cheuk-Man Yu and published by John Wiley & Sons. This book was released on 2009-01-26 with total page 464 pages. Available in PDF, EPUB and Kindle. Book excerpt: Cardiac Resynchronization Therapy continues to evolve at a rapidpace. Growing clinical experience and additional clinical trialsare resulting in changes in how patients are selected for CRT. This new edition of the successful Cardiac ResynchronizationTherapy builds on the strengths of the first edition, providingbasic knowledge as well as an up-to-date summary of new advances inCRT for heart failure. Fully updated to include information ontechnological advances, trouble shooting and recent key clinicaltrials, and with nine new chapters, this expanded text provides thelatest information, keeping the reader up-to-date with this rapidlyevolving field. The second edition of Cardiac Resynchronization Therapyis an essential addition to your collection.
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.
Book Synopsis Ventricular Arrhythmias by : John M. Miller
Download or read book Ventricular Arrhythmias written by John M. Miller and published by . This book was released on 2008 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Ventricular arrhythmias cause most cases of sudden cardiac death, which is the leading cause of death in the US. This issue reviews the causes of arrhythmias and the promising new drugs and devices to treat arrhythmias.
Author :J. Bogousslavsky Publisher :Karger Medical and Scientific Publishers ISBN 13 :3318060895 Total Pages :156 pages Book Rating :4.3/5 (18 download)
Book Synopsis Neurologic-Psychiatric Syndromes in Focus - Part II by : J. Bogousslavsky
Download or read book Neurologic-Psychiatric Syndromes in Focus - Part II written by J. Bogousslavsky and published by Karger Medical and Scientific Publishers. This book was released on 2017-11-17 with total page 156 pages. Available in PDF, EPUB and Kindle. Book excerpt: After a period in which neurology and psychiatry have become more and more defined, neurologists' interest in psychiatric topics, and vice versa, has increased. This book provides readers with an overview of the most representative neuropsychiatric syndromes such as Ganser and Capgras syndromes. It fills an existing gap in current literature and reintroduces a clinical approach. Additionally, there is a historical perspective throughout time with a focus on the most relevant clinical syndromes, offering distinct value to readers. With this approach, the book serves as a useful and stimulating guide on the diagnosis and management of neurologic psychiatric syndromes. It is for neurologists, neurosurgeons, psychiatrists, and all others interested in neuropsychiatric topics because these syndromes also called 'uncommon' may in fact be more frequent than the literature suggests.
Book Synopsis Clinical Cardiogenetics by : H.F. Baars
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 455 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 Cumulated Index Medicus written by and published by . This book was released on 1997 with total page 1860 pages. Available in PDF, EPUB and Kindle. Book excerpt:
