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Myotonic Dystrophy
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Book Synopsis Myotonic Dystrophy by : Peter S. Harper
Download or read book Myotonic Dystrophy written by Peter S. Harper and published by Bailliere Tindall Limited. This book was released on 2001 with total page 456 pages. Available in PDF, EPUB and Kindle. Book excerpt: Myotonic Dystrophy is one of the most variable of all human disorders. With age onset ranging from fetal life to old age, and with virtually all systems of the body affected in some way, it can present clinically to many types of specialist; not only the neurologist but also the cardiologist, ophthalmologists, gastroenterologist or endocrinologist.
Book Synopsis Cassidy and Allanson's Management of Genetic Syndromes by : John C. Carey
Download or read book Cassidy and Allanson's Management of Genetic Syndromes written by John C. Carey and published by John Wiley & Sons. This book was released on 2021-01-27 with total page 1104 pages. Available in PDF, EPUB and Kindle. Book excerpt: MANAGEMENT OF GENETIC SYNDROMES THE MOST RECENT UPDATE TO ONE OF THE MOST ESSENTIAL REFERENCES ON MEDICAL GENETICS Cassidy and Allanson’s Management of Genetic Syndromes, Fourth Edition is the latest version of a classic text in medical genetics. With newly covered disorders and cutting-edge, up-to-date information, this resource remains the most crucial reference on the management of genetic syndromes in the field of medical genetics for students, clinicians, caregivers, and researchers. The fourth edition includes current information on the identification of genetic syndromes (including newly developed diagnostic criteria), the genetic basis (including diagnostic testing), and the routine care and management for more than 60 genetic disorders. Written by experts, each chapter includes sections on: Incidence Diagnostic criteria Etiology, pathogenesis and genetics Diagnostic testing Differential diagnosis Manifestations and Management (by system) The book focuses on genetic syndromes, primarily those involving developmental disabilities and congenital defects. The chapter sections dealing with Manifestations and Management represents the centerpiece of each entry and is unmatched by other genetic syndrome references. Management of Genetic Syndromes is perfect for medical geneticists, genetic counselors, primary care physicians and all healthcare professionals seeking to stay current on the routine care and management of individuals with genetic disorders.
Book Synopsis Myotonic Dystrophy by : Peter Harper
Download or read book Myotonic Dystrophy written by Peter Harper and published by OUP Oxford. This book was released on 2009-06-17 with total page 120 pages. Available in PDF, EPUB and Kindle. Book excerpt: Myotonic dystrophy is part of the group of muscular dystrophies. It is the commonest inherited muscular dystrophy and has a profound effect on individuals who are diagnosed with the disease and their families. It is present for many decades of a patient's life but, unlike the other dystrophies, it also affects the organs in the body, making this a very distinctive disorder, and a very troubling one for those close to it. When the first edition of Myotonic Dystropy: The Facts published in 2002, it was widely appreciated by families, support groups, professionals and reviewers for its simple and clear approach to key practical questions. This new edition retains the same successful structure, but now includes new material on the recognition of the distinct 'type 2 myotonic dystrophy', which had only just been identified at the time of the first edition. Further explanation of the advances in basic understanding of myotonic dystrophy, and additional coverage of the new approaches to therapy and management of the condition are also included, as well as comprehensive discussion of the recent on-going worldwide research. New to this edition are 'Key Facts' at the beginning of each chapter, 'frequently asked question' boxes, and up-to-date contact details for worldwide myotonic dystrophy support groups.
Book Synopsis Sleep Disorders in Neurology by : Sebastiaan Overeem
Download or read book Sleep Disorders in Neurology written by Sebastiaan Overeem and published by John Wiley & Sons. This book was released on 2010-03-26 with total page 344 pages. Available in PDF, EPUB and Kindle. Book excerpt: Formulate treatment plans with confidence when you consult SleepDisorders in Neurology, a helpful overview of both common andrare neurological disorders that are frequently accompanied bysignificant sleep disturbances. This concise guide explains when toconsult a sleep specialist in managing a particular sleep disorderand draws on the expertise of neurologists who specialize in thedisorders under discussion. This practical guide is fullyillustrated and easily digested, providing a counterpoint to largeencyclopedic reference volumes. The authors take you from historytaking and diagnostic testing, to pharmacological andnon-pharmacological treatment options, and are joined by diseasesub-specialists in the chapters on disease specific sleepdisturbances and the effects of common neurological medications onsleep. This book is essential for sleep medicine specialists, as wellas for clinicians and health care professionals not specificallytrained in sleep medicine, but who nevertheless need to manageneurologically damaged patients with increasingly recognizedsleep-wake disturbances.
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 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 Myotonic Dystrophy by : Peter S. Harper
Download or read book Myotonic Dystrophy written by Peter S. Harper and published by . This book was released on 2002 with total page 132 pages. Available in PDF, EPUB and Kindle. Book excerpt: Myotonic dystrophy is part of the group of muscular dystrophies. It is the commonest inherited muscular dystrophy and has a profound effect on indviduals who are diagnosed with the disease and their families. It is present for many depths of a patient's life and has many attendant implications. Associated problems with other organs of the body, for example, which does not occur in the other dystrophies, making this very distinctive disorder, and very troubling one for those close to it. This book covers a wide range of aspects of the disease, and explains in simple terms exactly what the condition is, what the symptoms are and how they can or might develop. Also discussed is how to present them, or spot them early enough to treat them, and so limit any potential debilitation. Routes for further study are gone into, as it is not claimed that the book is exhaustive, it does not, for example, cover the very rarest manifestations of the illness. Self education is encouraged and this book gives anyone interested the tools with which to find out more and empower themselves by taking an active role in their own treatment. Most importantly, it carries the message that there is hope, something can be done, even if there is, as yet, no actual cure. Any patient who has left a diagnostic consultation with the impression that there is nothing to be done will find this a great source of hope and strength. There are few clinicians more experienced in this field than Peter Harper who has studied and written extensively on the subject.
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 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 2018-12-29 with total page 0 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 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 Genetic Instabilities and Neurological Diseases by : Robert D. Wells
Download or read book Genetic Instabilities and Neurological Diseases written by Robert D. Wells and published by Elsevier. This book was released on 2011-10-13 with total page 783 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genetic Instabilities and Neurological Diseases covers DNA repeat instability and neurological disorders, covering molecular mechanisms of repeat expansion, pathogenic mechanisms, clinical phenotype, parental gender effects, genotype-phenotype correlation, and diagnostic applications of the molecular data. This updated edition provides updates of these repeat expansion mutations, including the addition of many new chapters, and old chapters rewritten as extensions of the previous edition. This book is an invaluable reference source for neuroscientists, geneticists, neurologists, molecular biologists, genetic counsellors and students. Contributions by most of the principal research teams in the area, edited by world-renowned leaders Lays the background for future investigations on related diseases
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 Neurologic Differential Diagnosis by : Alan B. Ettinger
Download or read book Neurologic Differential Diagnosis written by Alan B. Ettinger and published by Cambridge University Press. This book was released on 2014-04-17 with total page 693 pages. Available in PDF, EPUB and Kindle. Book excerpt: Unique case-based guide to generating diagnostic possibilities based on the patients' symptoms. Invaluable for psychiatrists and neurologists.
Book Synopsis Myotonic Dystrophies by : Sandra Jenkins
Download or read book Myotonic Dystrophies written by Sandra Jenkins and published by Nova Science Publishers. This book was released on 2015 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Myotonic dystrophy is a multisystemic disorder. The epidemiology of DM is examined in the first chapter of this book as well as potential therapeutic strategies. The authors then go on to review the various involvement of the endocrine system in myotonic dystrophy and therapeutic strategies are proposed. The fourth chapter gives an overview on the diagnostic assessment and management of distinct clinical manifestations of CNS (Central Nervous System) involvement in DM patients, and the main topics regarding its pathogenesis are explored. The next chapter focuses on the strategy of neuromuscular blockage for patients with myotonic dystrophy, especially focusing on premedication, induction of anaesthesia, response to muscle relaxants, the crucial points of safe anaesthesiological care and other perioperative triggers. The development of biomarkers is of high importance in the diagnosis and monitoring of diseases and thus is examined with relation to DM1 (myotonic dystrophy type 1) patients. Other chapters summarize the different rehabilitative approaches that have been proposed in this disease; the novel, interesting findings of therapeutic potential to target DM1 with small molecule kinase inhibitors and the promises his may provide to this devastating disorder; the controversial, phenotypical consequences of the interrupted alleles on DM1 patients; and the sleep disorders associated with myotonic dystrophies.
Book Synopsis Neuromuscular Disorders in Clinical Practice by : Bashar Katirji
Download or read book Neuromuscular Disorders in Clinical Practice written by Bashar Katirji and published by Springer Science & Business Media. This book was released on 2013-10-11 with total page 1565 pages. Available in PDF, EPUB and Kindle. Book excerpt: Comprehensive, thoroughly updated, and expanded, Neuromuscular Disorders in Clinical Practice, Second Edition encompasses all disorders of the peripheral nervous system, covering all aspects of neuromuscular diseases from diagnosis to treatment. Mirroring the first book, this two-volume edition is divided into two parts. Part one discusses the approach to neuromuscular disorders, covering principles and basics, neuromuscular investigations, and assessment and treatment of neurological disorders. Part two then addresses the complete range of specific neuromuscular diseases: neuronopathies, peripheral neuropathies, neuromuscular junction disorders, muscle ion channel disorders, myopathies, and miscellaneous neuromuscular disorders and syndromes. Neuromuscular Disorders in Clinical Practice, Second Edition is intended to serve as a comprehensive text for both novice and experienced practitioners. General neurologists as well as specialists in neuromuscular medicine and trainees in neuromuscular medicine, clinical neurophysiology and electromyography should find this book inclusive, comprehensive, practical and highly clinically focused. Additionally, specialists in physical medicine and rehabilitation, rheumatology, neurosurgery, and orthopedics will find the book of great value in their practice.
Book Synopsis The Muscular Dystrophies by : Alan E. H. Emery
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 Tau Biology written by Akihiko Takashima and published by Springer Nature. This book was released on 2020-02-24 with total page 416 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book presents essential studies and cutting-edge research results on tau, which is attracting increasing interest as a target for the treatment of Alzheimer's disease. Tau is well known as a microtubule-associated protein that is predominantly localized in the axons of neurons. In various forms of brain disease, neuronal loss occurs, with deposition of hyperphosphorylated tau in the remaining neurons. Important questions remain regarding the way in which tau forms hyperphosphorylated and fibrillar deposits in neurons, and whether tau aggregation represents the toxic pathway leading to neuronal death. With the help of new technologies, researchers are now solving these long-standing questions. In this book, readers will find the latest expert knowledge on all aspects of tau biology, including the structure and role of the tau molecule, tau localization and function, the pathology, drivers, and markers of tauopathies, tau aggregation, and treatments targeting tau. Tau Biology will be an invaluable source of information and fresh ideas for those involved in the development of more effective therapies and for all who seek a better understanding of the biology of the aging brain.
