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Hereditary Peripheral Neuropathies 2005
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Book Synopsis Hereditary Peripheral Neuropathies by : G. Kuhlenbäumer
Download or read book Hereditary Peripheral Neuropathies written by G. Kuhlenbäumer and published by Springer Science & Business Media. This book was released on 2006-01-16 with total page 278 pages. Available in PDF, EPUB and Kindle. Book excerpt: "Hereditary Peripheral Neuropathies" deals with the Charcot-Marie-Tooth group of neuropathies and related primary hereditary neuropathies. The knowledge in this field has grown exponentially during the last ten years. The book is divided into two sections. The first section deals with the clinical presentation, electrophysiological features and differential diagnosis of these disorders as well as with the general biology of the peripheral nerve. The second section gives a detailed account of the known disease entities. The book will be interesting for both the clinician with a special interest in PNS diseases as well as for the researcher.
Book Synopsis Hereditary Peripheral Neuropathies (2005). by :
Download or read book Hereditary Peripheral Neuropathies (2005). written by and published by . This book was released on with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Book Synopsis Peripheral Nerve Disorders by : Sinéad M. Murphy
Download or read book Peripheral Nerve Disorders written by Sinéad M. Murphy and published by Elsevier Inc. Chapters. This book was released on 2013-08-17 with total page 32 pages. Available in PDF, EPUB and Kindle. Book excerpt: The inherited neuropathies are a clinically and genetically heterogeneous group of disorders in which there have been rapid advances in the last two decades. Molecular genetic testing is now an integral part of the evaluation of patients with inherited neuropathies. In this chapter we describe the genes responsible for the primary inherited neuropathies. We briefly discuss the clinical phenotype of each of the known inherited neuropathy subgroups, describe algorithms for molecular genetic testing of affected patients and discuss genetic counseling. The basic principles of careful phenotyping, documenting an accurate family history, and testing the available genes in an appropriate manner should identify the vast majority of individuals with CMT1 and many of those with CMT2. In this chapter we also describe the current methods of genetic testing. As advances are made in molecular genetic technologies and improvements are made in bioinformatics, it is likely that the current time-consuming methods of DNA sequencing will give way to quicker and more efficient high-throughput methods, which are briefly discussed here.
Book Synopsis Handbook of Peripheral Neuropathy by : Mark B. Bromberg
Download or read book Handbook of Peripheral Neuropathy written by Mark B. Bromberg and published by CRC Press. This book was released on 2005-08-12 with total page 728 pages. Available in PDF, EPUB and Kindle. Book excerpt: Providing a detailed study of the anatomy, physiology, and pathology of peripheral nerves, this reference provides a clear approach to the evaluation, characterization, and treatment of peripheral neuropathies-reviewing each major class of these disorders with authoritative discussions of clinical characteristics, electrodiagnostic features, examination findings, and treatment options and outcomes.
Book Synopsis Hereditary Peripheral Neuropathies by : Federica Miressi
Download or read book Hereditary Peripheral Neuropathies written by Federica Miressi and published by . This book was released on 2020 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Charcot-Marie-Tooth (CMT) disease is the most common hereditary peripheral neuropathy. To date, more than 80 genes have been identified to be involved in CMT, but genetic diagnosis is achieved only in 30-40% of cases. This study presented two main objectives: first, we focused on CMT and associated peripheral neuropathies using molecular and bioinformatic approaches to optimize their genetic characterization ; secondly, we investigated impaired mechanisms in an axonal CMT form, by creating a human cellular model of human induced pluripotency stem cells (hiPSC) and their differentiation into motor neurons (MN).In the first part of the project, we developed a new bioinformatic tool, CovCopCan, to detect Copy Number Variations (CNV), starting from NGS data. Thanks to CovCopCan, two new CNV have been identified and we discuss their involvement in two complex cases of peripheral neuropathy. We also identified three genetic variations in a CMT patient highlighting that CMT can be a multilocus genetic pathology. In the second part of the project, we successfully generated a cellular model of MN for the study of GDAP1 gene and its associated CMT2H form. We reprogrammed dermal fibroblasts of five control subjects and two CMT patients, carrying two different homozygous codon-stop mutations in GDAP1, into human inducedpluripotent stem cells (hiPSC). Then, we established a differentiation protocol to generate MN from hiPSC.MN with the GDAP1 p.Ser194* mutation were analyzed by expression, morphological, and functional tests. We confirmed the neural expression of GDAP1, and we suggested that oxidative stress and mitochondrial impairment could be responsible for the pathological condition in CMT2H MN. Taken together, our results highlighted that both genetic and functional analyses are essential in the complete characterization of CMT disease.
Book Synopsis Sensory Neuropathies by : Arthur K. Asbury
Download or read book Sensory Neuropathies written by Arthur K. Asbury and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 228 pages. Available in PDF, EPUB and Kindle. Book excerpt: While motor neuropathies and neuronopathies and mixed sensory-motor neuropathies have been met with adequate interest by clinical and basic researchers and physicians, pure sensory neuropathies and neuro nopathies have received comparably less attention, despite of the consider able morbidity they may cause in the individual patient. This prompted us to organize an International Symposium on Sensory Neuropathies which was held in Vienna, September 22-24,1990, as satellite to the International Neuromuscular Congress held one week earlier in Munich, Germany. We were fortunate to have a faculty of experienced authorities in the field as participants. This volume is the proceedings of the symposium. Due to factors which were beyond our control, publication of this volume was significantly delayed. Despite the enormous progress of biomedicine in recent years, most prominently in molecular biology, we feel that the contributions of this volume still represent a valuable reference for clinical, physiological, biochemical and pathomorphological studies on the sensory nervous system for which similarly comprehensive data are difficult to locate. November 1994 Arthur K Asbury Herbert Budka ElJriede Sluga Contents Contributors 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 IX 1.
Book Synopsis Neurological Diseases and Pregnancy by : Emma Ciafaloni
Download or read book Neurological Diseases and Pregnancy written by Emma Ciafaloni and published by Oxford University Press. This book was released on 2018 with total page 417 pages. Available in PDF, EPUB and Kindle. Book excerpt: For a woman of reproductive age, any medical appointment is a pre-conception visit and an opportunity to address pre-existing conditions that affect pregnancy and the maternal-fetal dyad. However, many neurologic conditions are rarely seen in pregnancy, and limited experience and knowledge may prevent the team from developing a shared approach to these complex conditions during pregnancy. Neurological Diseases and Pregnancy: A Coordinated Care Model for Best Management brings together experts across the disciplines of maternal fetal medicine, neurology, obstetrics, family planning, genetics, anesthesia, psychiatry, neurosurgery, and lactation to provide a multi-disciplinary, comprehensive, protocol-driven guide on best care for patients with neurologic disease before, during and after pregnancy. Each chapter provides a detailed care map on each unique disorder, and discusses the use of neurological medications during pregnancy and in lactation. Through this multi-disciplinary approach clinicians can navigate the complexities of preconception and pregnancy care, and help to optimize outcomes for the mother-infant dyad. Beyond pregnancy care, this volume further serves as a resource on best care for the life-course of women affected by neurologic disease including pre-pregnancy planning, genetic counseling, contraception, and sexuality in neurologic disease, as well as post-partum depression and menopausal neurologic changes.
Download or read book Mitochondrial Neuropathies written by and published by Academic Press. This book was released on 2019-06-15 with total page 252 pages. Available in PDF, EPUB and Kindle. Book excerpt: Mitochondrial Neuropathies, Volume 146, brings together experts in a range of diseases that damage the nervous system to present the role of mitochondrial dysfunction in their particular field, with this new release focusing on Mitochondrial dysfunction in Alzheimer's Disease, HIV and the mitochondrial: immune interface in the CNS, The Impact of mitochondrial damage in HIV-induced peripheral neuropathy, Mitochondrial dysfunction and the pathogenesis of chemotherapy-induced peripheral neuropathy, Disorders of mitochondrial biogenesis in peripheral neuropathy, Mitochondrial dysfunction and the pathogenesis of diabetic neuropathy, Manipulating mitochondria to treat peripheral neuropathy, and DCA therapy - the yin and yang of mitochondrial activation. Contains contributions from a diverse group of experts Presents a timely resource that brings together different fields to highlight a common pathogenic mechanism Focuses on the role of mitochondria in diverse neuropathies
Book Synopsis Peripheral Neuropathy in Childhood by : Robert A. Ouvrier
Download or read book Peripheral Neuropathy in Childhood written by Robert A. Ouvrier and published by Cambridge University Press. This book was released on 1999-02-03 with total page 350 pages. Available in PDF, EPUB and Kindle. Book excerpt: A liberally illustrated and fully updated new edition of this very practical text.
Book Synopsis Neuromuscular Disorders by : Satish V. Khadilkar
Download or read book Neuromuscular Disorders written by Satish V. Khadilkar and published by Springer. This book was released on 2017-12-28 with total page 534 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book provides a concise overview of the diagnosis and therapy of a wide variety of neuromuscular disorders, in tabulated form and with illustrative cases. Treating neuromuscular disorders calls for a sound, step-by-step clinical approach based on differential diagnosis and laboratory investigations. Yet to date, there has been no single, compact book that offers all the relevant information related to the management of these disorders. This book fills that gap, presenting the state of the art in the field and addressing practical problems together with their solutions. Each chapter covers disorder characteristics, clinical differentiating points, relevant investigations and their interpretation, available genetic testing, best management approaches and counselling. Illustrative cases provide valuable insights, while extensive tables and illustrations mean that information can be rapidly found.
Book Synopsis Cerebellar Disorders by : Mario Ubaldo Manto
Download or read book Cerebellar Disorders written by Mario Ubaldo Manto and published by Cambridge University Press. This book was released on 2010-03-25 with total page 313 pages. Available in PDF, EPUB and Kindle. Book excerpt: During the last three decades, many laboratories worldwide have dedicated their research activities to understanding the roles of the cerebellum in motor control, cognitive processes and the biology of mental processes, behavioral symptoms and emotion. These advances have been associated with discoveries of new clinical disorders, in particular in the field of genetic ataxias, and the growing number of diseases presents a source of difficulty for clinicians during daily practice. This practical guide summarizes and evaluates current knowledge in the field of cerebellar disorders. Encompassing details of both common and uncommon cerebellar ataxias, including vascular, immune, neoplastic, infectious, traumatic, toxic and inherited disorders, this book will assist clinicians in the diagnosis and management of the full spectrum of cerebellar ataxias encountered in daily practice. Essential reading for clinicians, including general practitioners, neurologists, pediatricians, radiologists, psychiatrists and neuropsychologists, this will also prove a valuable tool for students, trainees and researchers.
Book Synopsis Peripheral Nerve Disorders by : Jean-Michel Vallat
Download or read book Peripheral Nerve Disorders written by Jean-Michel Vallat and published by John Wiley & Sons. This book was released on 2014-08-01 with total page 318 pages. Available in PDF, EPUB and Kindle. Book excerpt: Peripheral Nerve Disorders: Pathology and Genetics is a definitive, clinically-oriented guide to the pathology of peripheral nerve disorders. These commonly seen neurological challenges have many causes and accurate diagnosis is often necessary via pathological analysis. New techniques exploiting molecular biological knowledge have opened up new vistas to understanding the pathogenesis of these disorders, and hence their effective management. This new title takes a disease-oriented approach to understanding the pathology of these conditions. It combines classical and contemporary techniques to enable practitioners in neurology and neuropathology to better understanding of the disease processes underlying patients’ presentations and to formulate appropriate management plans. Peripheral Nerve Disorders: Pathology and Genetics is a valuable resource for neurologists, neuropathologists, pathologists, neurobiologists and geneticists.
Book Synopsis Textbook of Peripheral Neuropathy by : Peter D. Donofrio, MD
Download or read book Textbook of Peripheral Neuropathy written by Peter D. Donofrio, MD and published by Demos Medical Publishing. This book was released on 2012-04-17 with total page 469 pages. Available in PDF, EPUB and Kindle. Book excerpt: Textbook of Peripheral Neuropathy is a practical but authoritative reference for clinicians in anymedical specialty who are evaluating and treating patients with signs and symptoms of a peripheralneuropathy. Reviewing the full spectrum of clinically significant neuropathies, the book contains chapterson common and rare forms including mononeuropathy in the upper and lower extremities, mononeuritismultiplex, diffuse and symmetric polyneuropathies, brachial and lumbrosacral plexopathies, and spinalroot disordersódisorders that can mimic diffuse and/or focal neuropathies, complicating diagnosis andevaluation. Coverage encompasses both inherited and acquired diseases, including neuropathies arisingfrom physical injury, diabetes, alcoholism, toxins, autoimmune responses, nutritional deficiencies, vascularand metabolic disorders, medication-induced neuropathies, and idiopathic conditions. The textbookprovides an evidence-based approach to testing, differential diagnosis, and treatment, and should serveas a trusted resource for healthcare professionals confronting the many manifestations of peripheralneuropathy in clinical practice. The chapters are written by internationally renowned expert contributors with deep clinical experienceand contain numerous tables, figures, and algorithms providing clear diagnostic and managementguidelines. Boxed Clinical Pearls and Key Points allow for quick access to pertinent information, making evaluation and review easy and rewarding. Features of Textbook of Peripheral Neuropathy Include: ̈ Practical yet comprehensiveóan accessible ìgo-toî reference for clinicians ̈ Covers all clinically relevant peripheral neuropathies ̈ Clinical Pearls and Key Points are set off from the text for quick reference ̈ Contains clear diagnostic and management guidelines from expert contributors ̈ Structured chapters make it easy to find essential point-of-careinformation
Book Synopsis Imaging Acute Neurologic Disease by : Massimo Filippi
Download or read book Imaging Acute Neurologic Disease written by Massimo Filippi and published by Cambridge University Press. This book was released on 2014-09-11 with total page 393 pages. Available in PDF, EPUB and Kindle. Book excerpt: A comprehensive survey of best practice in using diagnostic imaging in acute neurologic conditions. The symptom-based approach guides the choice of the available imaging tools for efficient, accurate, and cost-effective diagnosis. Effective examination algorithms integrate neurological and imaging concepts with the practical demands and constraints of emergency care.
Book Synopsis Peripheral Neuropathy by : Norman Latov, MD, PhD
Download or read book Peripheral Neuropathy written by Norman Latov, MD, PhD and published by Demos Medical Publishing. This book was released on 2006-11-08 with total page 151 pages. Available in PDF, EPUB and Kindle. Book excerpt: Peripheral neuropathy affects 10 to 20 million people in the U.S, including ten per cent of all people who have diabetes. This condition has numerous causes, but can be associated with diseases such as HIV, alcoholism, and lupus, and may result from treatments for other medical conditions, such as cancer chemotherapy. Symptoms include pain, numbness, loss of balance, and tingling in the extremities. Although a widespread condition, most people don't know about it, and when diagnosed find it difficult to obtain information. Peripheral Neuropathy, by Norman Latov, Professor of Neurology at the Weill Medical College of Cornell University, explains what we know about neuropathy, including its causes and manifestations, and what can be done to manage it. Topics covered include: The causes of peripheral neuropathy Drug therapy for the condition itself and for managing symptoms such as pain Interventional therapy Caring for your feet Personal accounts of people living with neuropathy Alternative medicines, and much more This indispensable guide will help millions of people understand this condition so that they can take control of their lives and make informed decisions. In addition, it will be a useful resource for their families, caregivers, and health care providers.
Book Synopsis Neuromuscular Disorders of Infancy, Childhood, and Adolescence by : Basil T. Darras
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
Book Synopsis Chemotherapy-Induced Neuropathic Pain by : Robert B. Raffa
Download or read book Chemotherapy-Induced Neuropathic Pain written by Robert B. Raffa and published by CRC Press. This book was released on 2012-07-24 with total page 225 pages. Available in PDF, EPUB and Kindle. Book excerpt: There have been tremendous recent advances in the pharmacotherapy, dose regimens, and combinations used to treat cancer and for the treatment or prevention of the spread of disease. As a direct result of these advances, there are an increasing number of cancer survivors, although research dealing with chemotherapy-induced pain is still in its early
