Download or read book Hereditary Leukoencephalopathies and Demyelinating Neuropathies in Children written by Graziella Uziel and published by John Libbey Eurotext. This book was released on 2004 with total page 192 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genetically determined myelinopathies are a large group of neurological diseases that present a challenge to the clinician, the biologist and the geneticist. During the last decade, the development of tools for exploring the nervous system and the human genome has had a tremendous impact on the understanding of these diseases. Thus, the advances in neuroimaging techniques and molecular genetic research are continuously influencing disease classification, diagnostic protocols, and management of patients. These topics are the focus of the present publication. The aim is to provide a comprehensive review of the most important issues regarding genetic myelin disorders.
Download or read book Magnetic Resonance of Myelin Myelination and Myelin Disorders written by Jacob Valk and published by Springer Science & Business Media. This book was released on 2013-04-17 with total page 734 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Pediatric Electromyography written by Hugh J. McMillan and published by Springer. This book was released on 2017-10-27 with total page 407 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
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.
Download or read book Demyelinating Disorders of the Central Nervous System in Childhood written by Dorothée Chabas and published by Cambridge University Press. This book was released on 2011-03-17 with total page 297 pages. Available in PDF, EPUB and Kindle. Book excerpt: Although multiple sclerosis and other disorders of myelin formation and repair are most commonly associated with adults, they can also occur in infants, children and adolescents. Up to 5 percent of those with MS experience symptoms before the age of 18, and the number of cases diagnosed is rising. There is a lack of awareness about these diseases in childhood, however, even amongst pediatric neurologists and MS specialists. Demyelinating Disorders of the Central Nervous System in Childhood provides comprehensive coverage of these diseases, highlighting throughout the differences between management in childhood and in adults. With sections dedicated to the diagnosis, course, treatment and biology of pediatric MS, detailed chapters on other childhood demyelinating diseases, including acute disseminated encephomyelitis, optic neuritis, acute complete transverse myelitis and neuromyelitis optica, are also provided. Essential reading for pediatric neurologists and MS specialists, this book will also be valuable reading for adult neurologists and pediatricians.
Download or read book Pediatric Neurology written by James F Bale Jr and published by CRC Press. This book was released on 2011-12-15 with total page 353 pages. Available in PDF, EPUB and Kindle. Book excerpt: Recognizing patterns of disease can be the first step to successful management of the child with a neurological problem; this is emphasized by the authors throughout the book. Their concise, precise account reflects the remarkable recent advances in pediatric neurology and related disciplines, while stressing the fundamentals of clinical examination and history taking in reaching an accurate diagnosis. The book begins with a detailed discussion of neurological examination techniques and the basic formulation of differential diagnoses and management, using neuroradiology, electrophysiology, cerebrospinal fluids, genetic and metabolic testing. The second section of the book follows a problem-based approach, just as diseases present in the real world. It employs practical, symptom- and sign-based strategies for virtually all conditions encountered by the practitioner. The final section on neurological emergencies recognizes that such conditions present first to someone other than a pediatric neurologist. This new color handbook is illustrated throughout by a wealth of top-quality clinical photos and imaging, and is of interest to pediatric neurologists, general pediatricians, primary care physicians and emergency physicians, in training and practice.
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.
Download or read book Genetics of Epilepsy and Genetic Epilepsies written by Giuliano Avanzini and published by John Libbey Eurotext. This book was released on 2009 with total page 281 pages. Available in PDF, EPUB and Kindle. Book excerpt: This volume provides updated information on epilepsy genes, on the clinical picture of genetic epilepsies discovered so far, and on conceptual advances in the complicated area of genotype-phenotype correlations. Recent studies on monogenic epilepsies present new insights into mechanisms whereby a mutation of a single gene, coding for an ion channel, can result in a complex epileptic phenotype. The analysis of genetically-determined epileptogenic dysplasia is advancing our understanding of the role of genes in controlling normal and pathological brain development. The pathogenic mechanisms by which gene mutations determine progressive myoclonus epilepsies offer critical opportunities to understand the role of genetic factors in neurodegenerative phenome-na associated with an even broader range of progressive epilepsy types. The specialists who have contributed to this book are outstanding international experts in their respective fields, ensuring first and foremost that the reviews are of relevance to clinicians dealing with epilepsy in their daily practice, as well as providing the highest quality scientific information for biomedical research.
Download or read book Neurocutaneous Syndromes in Children written by Paolo Curatolo and published by John Libbey Eurotext. This book was released on 2006 with total page 247 pages. Available in PDF, EPUB and Kindle. Book excerpt: Neurocutaneous Syndromes unify a group of rare neurological disorders in which the initial identification depends on simple visual disgnosis. They include a large group of neurological disorders which feature cutaneous and ocular lesions, brain malformations, central and peripheral brain tumours, mental retardation, seizures and psychiatric problems. In the last few years, our knowledge of neurocutaneous syndromes has increased substantially. The aim of this volume is to provide an updated developmental perspective on these multifaceted conditions and to review their major clinical features, in particular their embryological basis, clinical molecular genetics, diagnostic protocols and novel therapeutic approaches.
Download or read book New Diagnostic and Therapeutic Tools in Child Neurology written by Eugenio Mercuri and published by John Libbey Eurotext. This book was released on 2011-08-01 with total page 156 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book provides a comprehensive review and update of the newest diagnostic and therapeutic tools in paediatric neurology. Special attention is paid to neuroradiologic and neurophysiologic techniques and to their clinical application, with guidelines and suggestions on how an integrated approach can be used to reach diagnosis. Some of the chapters focus on the new-born infant and the first years of life, highlighting the most appropriate MRI, clinical, and EEG techniques to investigate the developing brain. State-of-the-art techniques used in older children are also presented that afford a better understanding of the correlation between function and brain structure in young patients with brain lesions. New genetic discoveries are particularly emphasised, as is the possibility of performing accurate phenotype -- genotype correla-tion by combining the latest methods, such as muscle MRI and genetic information, in order to identify MRI patterns associated with specific genetic disorders. In all chapters an effort is made to combine technical data with clinical applications in order to show, when possible, how these novel procedures can also be used in rehabilitation. This book will be of interest to paediatricians, paediatric neuro-logists, neonatologists, and to all those who are involved in the diagnosis and care of children with neurologic disabilities.
Download or read book Movement Disorders in Children written by Nardo Nardocci and published by John Libbey Eurotext. This book was released on 2007 with total page 187 pages. Available in PDF, EPUB and Kindle. Book excerpt: Book & DVD. This book covers a wide range of disease conditions that are characterised by involuntary movements possibly associated with signs of more diffuse dysfunction of the nervous system. These include both genetically determined and acquired conditions, running a clinical course that may be progressive, static, or paroxysmal. Recent years have witnessed growing interest in the movement disorders of children. There has been an increase in our understanding of the pathogenesis of these disorders, and new perspectives for their diagnosis and treatment have emerged. This book aims to provide neurologists, paediatricians, and specialists in developmental medicine with a comprehensive update on these issues. The more recent advances on dystonias, neurotransmitter disorders, chorea and PANDAS, tics and Tourette syndrome, paroxysmal dyskinesias, psychogenetic movement disorders and other specific syndromes and diseases -- such as opsoclonus-myoclonus, rapid onset dystonia-parkinsonism, pantothenate kinase-associated neurodegeneration and Rett syndromes -- are illustrated, and current topics on genetics, biochemistry, brain imaging, physiological investigations, quantitative assessment, and the pharmacological and surgical treatment of childhood movement disorders are covered. The book also includes rich video documentation which we trust may be a helpful and crucial contribution for all professionals involved in the field of movement disorders, where the correct semiologic definition of the different conditions is one of the most important but problematic steps in the diagnostic work-up.
Download or read book Mental retardation written by D. Riva and published by John Libbey Eurotext. This book was released on 2008-06-01 with total page 240 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Neurodevelopmental Disorders Cognitive Behavioural Phenotypes written by Daria Riva and published by John Libbey Eurotext. This book was released on 2005-06-01 with total page 161 pages. Available in PDF, EPUB and Kindle. Book excerpt: In recent years our approach to neurodevelopmental disorders has undergone extraordinary change. This has resulted from tremendous progress in various different disciplines including developmental neuroscience, behavioural and molecular genetics, and developmental neurobiology, and from the very high quality now achievable in neuroimaging and neurophysiological techniques. This publication aims to provide a concise and interdisciplinary approach to the study of the different cognitive/behavioural phenotypes encountered in a wide range of neurodevelopmental disorders. Starting from methodological, nosographic, and assessment premises, the book deals with selected disorders of a defined but still complex genetic aetiology, and concludes with a description of the neuropsychiatric disorders that are most commonly encountered during development.
Download or read book Neurology of the infant written by Francesco Guzzetta and published by John Libbey Eurotext. This book was released on 2009-01-01 with total page 347 pages. Available in PDF, EPUB and Kindle. Book excerpt: In the first two years of life, several important and interlinked neurological functions develop; this is a decisive developmental period. Neurological disorders arising in early childhood therefore require special attention and should be defined precisely. To be understood and managed correctly, these disorders (epilepsy, cerebral lesions, tumours, nerve damage, etc.) must be considered as a whole. By compartmentalizing the disorders and only focusing on a certain number of them, physicians run the risk of neglecting others which could have been useful in reaching a more accurate diagnosis. Written by neuropaediatricians with the aim of sharing their knowledge, this book is the only one of its kind to date to explore, in such detail, all the factors which have the potential to perturb neurological development.
Download or read book Perinatal brain damage written by Luca Ramenghi and published by John Libbey Eurotext. This book was released on 2008-01-01 with total page 275 pages. Available in PDF, EPUB and Kindle. Book excerpt: This volume is based on a highly successful conference dedicated to “Perinatal brain damage:from pathogenesis to neuroprotection ”. Neonatologists, paediatricians, paediatric neurologists, obstetricians, basic researchers involved in neurosciences, as well as rehabilitation professionals, will be interested by this ensuing publication. The volume covers pathogenic aspects of brain lesions occurring in the fetal and neonatal period, and addresses the issues of diagnostic workup and treatment.The most authoritative basic researchers, clinicians, and specialists in the field of neuroimaging, provide chapters on recent clinical advances. A subject of particular importance is the neurological vulnerability of the preterm infant, which also touches on ethical aspects of the care of high-risk preterm babies and those born from multiple pregnancies. A particularly original session focuses on cerebral white matter and the many issues related to this crucial part of the developing brain. Experts also deal with cerebral visual impairment, motor development, cognitive function, and the mechanisms underlying the neuronal plasticity of the infant’s brain. Concepts of neuroprotection are also outlined, based on pharmacological agents tested on experimental animals and the best drugs used to treat neonatal convulsions.
Download or read book Language written by Giovanna Zardini and published by John Libbey Eurotext. This book was released on 2006 with total page 276 pages. Available in PDF, EPUB and Kindle. Book excerpt: This comprehensive monograph updates progress in understanding children's language learning and its pathologies. It stresses the neurologic basis of normal language acquisition and the consequences of a variety of disorders using such tools as detailed analysis of language comprehension, production and use, as well as functional brain imaging and electrophysiology. It also underlines the import6ance of subcortical circuitry and inner speech and reviews the unfolding or regression of language of language in focal brain lesions, autism, Williams syndrome and developmental disorders of oral and written language.
Download or read book Neurobiology Diagnosis and Treatment in Autism written by Daria Riva and published by John Libbey Eurotext. This book was released on 2013-05-01 with total page 242 pages. Available in PDF, EPUB and Kindle. Book excerpt: Autism is an extremely complex neurodevelopmental disorder that is expressed in a spectrum of phenotypes and is characterised by impaired reciprocal social communication and stereotyped patterns of interests and activities. Its aetiopathogenesis remains poorly understood. This exhaustive synthesis discusses various aspects: A focus on the neurobiology of autism: the candidate genes implicate an involvement of numerous brain regions and a concomitant malfunctioning of neurotransmitter, immunologic, and other mechanisms; The most incisive rehabilitation models in their original formulation and the results achieved with the same or similar protocols in Italian centres (understanding, language therapy, social skill training; The psychopharmacologic options for the condition of autism per se and for its associated, very frequent, comorbidities. It suggests a potential influence on professional practice and enables an up-to-date approach to effective diagnosis and treatment.
