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Author: Peter S. Harper
Publisher: Bailliere Tindall Limited
Published: 2001
Total Pages: 456
ISBN-13:
DOWNLOAD EBOOKMyotonic 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.
Author: John C. Carey
Publisher: John Wiley & Sons
Published: 2021-01-27
Total Pages: 1104
ISBN-13: 1119432677
DOWNLOAD EBOOKMANAGEMENT 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.
Author: George Karpati
Publisher: Cambridge University Press
Published: 2001-07-12
Total Pages: 800
ISBN-13: 9780521650625
DOWNLOAD EBOOKRewritten and redesigned, this remains the one essential text on the diseases of skeletal muscle.
Author: Masanori P. Takahashi
Publisher: Springer
Published: 2018-12-29
Total Pages: 0
ISBN-13: 9789811344367
DOWNLOAD EBOOKThis 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.
Author: Corrado Angelini
Publisher: Springer
Published: 2017-10-05
Total Pages: 392
ISBN-13: 3319564544
DOWNLOAD EBOOKThis 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.
Author: Robert D. Wells
Publisher: Elsevier
Published: 2011-10-13
Total Pages: 783
ISBN-13: 0080463770
DOWNLOAD EBOOKGenetic 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
Author: Alan B. Ettinger
Publisher: Cambridge University Press
Published: 2014-04-17
Total Pages: 693
ISBN-13: 1107014557
DOWNLOAD EBOOKUnique case-based guide to generating diagnostic possibilities based on the patients' symptoms. Invaluable for psychiatrists and neurologists.
Author: Roger N. Rosenberg
Publisher: Lippincott Williams & Wilkins
Published: 2008
Total Pages: 930
ISBN-13: 9780781769563
DOWNLOAD EBOOKCompletely 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)
Author: Bashar Katirji
Publisher: Springer Science & Business Media
Published: 2013-10-11
Total Pages: 1565
ISBN-13: 1461465672
DOWNLOAD EBOOKComprehensive, 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.
Author: Sandra Jenkins
Publisher: Nova Science Publishers
Published: 2015
Total Pages: 0
ISBN-13: 9781634829052
DOWNLOAD EBOOKMyotonic 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.
