Neuropediatric Aspects Of Hereditary Peripheral Neuropathies In Childhood PDF Download

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Peripheral Neuropathy in Childhood

Peripheral Neuropathy in Childhood
Author: Robert A. Ouvrier
Publisher: Cambridge University Press
Total Pages: 350
Release: 1999-02-03
Genre: Medical
ISBN: 9781898683179

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A liberally illustrated and fully updated new edition of this very practical text.


Hereditary Peripheral Neuropathies

Hereditary Peripheral Neuropathies
Author: G. Kuhlenbäumer
Publisher: Springer Science & Business Media
Total Pages: 278
Release: 2006-01-16
Genre: Medical
ISBN: 3798515867

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"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.


Pediatric Neurology Part III

Pediatric Neurology Part III
Author: Pierre Landrieu
Publisher: Elsevier Inc. Chapters
Total Pages: 55
Release: 2013-04-24
Genre: Medical
ISBN: 012808412X

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Hereditary neuropathies (HN) are categorized according to clinical presentation, pathogenic mechanism based on electrophysiology, genetic transmission, age of occurrence, and, in selected cases, pathological findings. The combination of these parameters frequently orients towards specific genetic disorders. Ruling out a neuropathy secondary to a generalized metabolic disorder remains the first pediatric concern. Primary, motor-sensory are the most frequent HN and are dominated by demyelinating AD forms (CMT1). Others are demyelinating AR forms, axonal AD/AR forms, and forms with “intermediate” electrophysiological phenotype. Pure motor HN represent40 genes with various biological functions have been found responsible for HN. Many are responsible for various phenotypes, including some without the polyneuropathic trait: for the pediatric neurologist, phenotype/genotype correlations constitute a permanent bidirectional exercise.


Pediatric Electromyography

Pediatric Electromyography
Author: Hugh J. McMillan
Publisher: Springer
Total Pages: 402
Release: 2017-10-27
Genre: Medical
ISBN: 3319613618

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This book describes how to perform nerve conduction studies and electromyography in children, and explains the relevant physiology and anatomy crucial to making a diagnosis. Relevant case presentations are included to aid learning, and the authors also focus on the practical applications of the test results, including discussions of major neuromuscular diseases amenable to diagnosis via electromyography. Pediatric Electromyography: Concepts and Clinical Applications is aimed at residents, technologists and staff pediatric neurologists, as a practical guide and exam study guide.


Neuromuscular Disorders of Infancy, Childhood, and Adolescence

Neuromuscular Disorders of Infancy, Childhood, and Adolescence
Author: Basil T. Darras
Publisher: Elsevier
Total Pages: 1156
Release: 2014-12-03
Genre: Medical
ISBN: 0124171273

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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


Pediatric Neurology

Pediatric Neurology
Author: Tena Rosser
Publisher: Lippincott Williams & Wilkins
Total Pages: 360
Release: 2007
Genre: Medical
ISBN: 9780781778886

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Pediatric Neurology for the Oral Boards: A Case-Based Review is the first pediatric neurology review book written specifically for neurology residents preparing for the oral boards. The book presents sixty cases with discussions structured according to the neurology oral boards format: localization of neurologic findings; differential diagnosis and most likely diagnosis; diagnostic workup; and patient management. The cases will help readers lay a foundation of knowledge in pediatric neurology and develop an organized approach to clinical decision-making. An introduction explains in detail what to expect on the examination and gives helpful hints on preparing for and taking the exam.


Magnetic Resonance of Myelin, Myelination, and Myelin Disorders

Magnetic Resonance of Myelin, Myelination, and Myelin Disorders
Author: Jacob Valk
Publisher: Springer Science & Business Media
Total Pages: 734
Release: 2013-04-17
Genre: Medical
ISBN: 366202568X

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Magnetic resonance imaging (MRI) is now considered the imaging modality of choice for the majority of disorders affecting the central nervous system. This is particularly true for gray and white matter disorders, thanks to the superb soft tis sue contrast in MRI which allows gray matter, unmyelinated, and myelinated white matter to be distinguished and their respective disorders identified. The pre sent book is devoted to the disorders of myelin and myelination. A growing amount of detailed in vivo information about myelin, myelination, and myelin dis orders has been derived both from MRI and from MR spectroscopy (MRS). This prompted us to review the clinical, laboratory, biochemical, and pathological data on this subject in order to integrate all available information and to provide im proved insights into normal and disordered myelin and myelination. We will show how the synthesis of all available information contributes to the interpretation of MR images. After a brief historical review about the increasing knowledge on myelin and my elin disorders, we propose a new classification of myelin disorders based on the subcellular localization of the enzymatic defects as far as the inborn errors of me tabolism are concerned. This classification serves as a guide throughout the book. All items of the classification will be discussed and, whenever relevant and possi ble, be illustrated by MR images.


Small Fiber Neuropathy and Related Syndromes: Pain and Neurodegeneration

Small Fiber Neuropathy and Related Syndromes: Pain and Neurodegeneration
Author: Sung-Tsang Hsieh
Publisher: Springer
Total Pages: 184
Release: 2019-04-08
Genre: Medical
ISBN: 981133546X

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This book provides comprehensive coverage of small fiber neuropathy (SFN), from diagnosis to therapy. It focuses on nerve degeneration and neuropathic pain, and their underlying pathology, physiology, psychophysics, genetics and imaging. In particular, this book describes and discusses the major advances in diagnostic techniques for assessing SFN. These include skin biopsy, evoked potentials, quantitative sensory testing and functional studies, as biomarkers of SFN. SFN is a common peripheral nerve disorder, but was often overlooked due to a lack of objective and specific diagnostic tests for the assessment of small nerve fibers. These fibers mediate thermal sensation, pain detection (nociception), and autonomic regulation. Major symptoms of SFN include neuropathic pain, impaired sensation and autonomic dysfunction. Neuropathic pain poses a diagnostic challenge to clinicians, an essential step for selecting appropriate treatment to relieve suffering. SFN frequently develops in systemic diseases such as diabetes mellitus, following chemotherapy, infections etc., or presents as a major feature of various genetic neuropathies (e.g. channelopathy and familial amyloidosis). In addition to describing these conditions which lead to SFN, this book also describes related syndromes of neurodegeneration and pain, including fibromyalgia, visceral pain and hypersensitivity. This definitive book covers both clinical aspects and research progress, which provides in-depth and up-to-date information on SFN. It would be immensely useful for clinicians, neurologists, neuroscientists, diabetologists, and pain specialists. Dr. Sung-Tsang Hsieh is a professor at Department of Neurology and Institute of Anatomy and Cell Biology, College of Medicine, National Taiwan University, Taiwan. He is also the associate dean of College of Medicine, National Taiwan University, Taiwan. Dr. Praveen Anand is a professor at Department of Clinical Neurology and head of Centre for Clinical Translation, Hammersmith Hospital, UK. Dr. Christopher Gibbons is an associate professor of Neurology, Harvard Medical School, Beth Israel Deaconess Medical Center, USA. Dr. Claudia Sommer is a professor of Neurology at the Department of Neurology, Würzburg University Hospital, Germany.


Pediatric Neuro-Ophthalmology

Pediatric Neuro-Ophthalmology
Author: Michael C. Brodsky
Publisher: Springer Science & Business Media
Total Pages: 692
Release: 2012-12-06
Genre: Medical
ISBN: 1461384575

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Pediatric Neuroophthalmology details the diagnostic criteria, current concepts of pathogenesis, neuroradiological correlates, and clinical management of a large group of neuroophthalmic disorders that present in childhood. Surprisingly distinct from neuroophthalmic disorders afflicting adults, this set of diseases falls between the cracks of most ophthalmology training, and thus, warrants a practical, clinical guide for the practitioner in ophthalmology - the neuroophthalmologist, pediatric ophthalmologist, general ophthalmologist - as well as neurologists and for residents. The authors, leading pediatric ophthalmologists, have taken this difficult subject matter and developed an accessible, user-friendly manual with a detailed approach to the recognition, differential diagnosis, and management of pediatric neuroophthalmologic disorders.