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The Neuronal Ceroid Lipofuscinoses Batten Disease
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Book Synopsis The Neuronal Ceroid Lipofuscinoses (Batten Disease) by : Sara Mole
Download or read book The Neuronal Ceroid Lipofuscinoses (Batten Disease) written by Sara Mole and published by OUP Oxford. This book was released on 2011-03-10 with total page 480 pages. Available in PDF, EPUB and Kindle. Book excerpt: The neuronal ceroid lipofuscinoses are an extremely rare group of inherited neurodegenerative diseases that primarily affect children. Core symptoms of these conditions typically include epilepsy, cognitive decline and visual failure. These diseases are so rare that professionals who come into contact with them need a consultative reference work that enables them to become expert, or identify who to contact for more details. Fully updated and revised, this second edition continues to be the definitive volume on this devastating group of disorders. Written by an international collection of authorities in the field, it provides invaluable advice on their diagnosis, patient care, and new treatments that are available. This new edition of the definitive reference text on the neuronal ceroid lipofuscinoses will prove useful for clinicians, family physicians, research scientists, diagnostic laboratories, families affected by the disease as well as by workers in industry planning translational research.
Book Synopsis The Neuronal Ceroid Lipofuscinoses (Batten Disease) by : Sara Mole
Download or read book The Neuronal Ceroid Lipofuscinoses (Batten Disease) written by Sara Mole and published by Oxford University Press. This book was released on 2011-03-10 with total page 475 pages. Available in PDF, EPUB and Kindle. Book excerpt: This second edition is the definitive reference text on the neuronal ceroid lipofuscinoses (NCLs; also known as 'Batten Disease').
Book Synopsis Progressive Brain Disorders in Childhood by : Juan M. Pascual
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.
Book Synopsis Atlas of Epilepsies by : S.R. Benbadis
Download or read book Atlas of Epilepsies written by S.R. Benbadis and published by Springer Science & Business Media. This book was released on 2010-09-20 with total page 1966 pages. Available in PDF, EPUB and Kindle. Book excerpt: Atlas of Epilepsies is a landmark, all-encompassing, illustrated reference work and hands-on guide to the diagnosis, management and treatment of epilepsy in all its forms and across all age groups. The premier text in the field with over one thousand images, the Atlas’s highly illustrative approach tackles the difficult subject of epileptic seizures and epileptic syndromes, accompanied by sequential photographs of each management step. Intraoperative photographs are accompanied by detailed figure legends describing nuances, subtleties, and the thought processes involved in each step, providing a fuller understanding of each procedure. The Atlas draws on the expertise of over 300 internationally-renowned experts, and is liberally interspersed with clinical insights and personal vignettes that offer helpful tips, technical advice and critical knowledge to the clinician and scholar. The thorough and complete table of contents includes dedicated sections or chapters on important topics such as neonatal and pediatric seizures; imitators of epilepsy; EEG and neuroimaging; psychiatric and quality of life aspects of epilepsy; and a complete guide to treatment options including current and up-to-date chapters on pharmaceuticals, surgical procedures, and additional and alternative treatments. No other publication addresses epilepsies as thoroughly and completely as the Atlas of Epilepsies. Exhaustive and illustrative, convenient and current, this reference is sure to be the premier text on epilepsy for many years to come.
Download or read book Neurogenetics written by and published by Elsevier. This book was released on 2018-01-09 with total page 480 pages. Available in PDF, EPUB and Kindle. Book excerpt: Neurogenetics, Part II, Volume 148, the latest release in the Handbook of Clinical Neurology, provides the latest information on the genetic methodologies that are having a significant impact on the study of neurological and psychiatric disorders. Using genetic science, researchers have identified over 200 genes that cause or contribute to neurological disorders. Still an evolving field of study, defining the relationship between genes and neurological and psychiatric disorders is expected to dramatically grow in scope. Part II builds on the foundation of Part I, expanding the coverage to dementias, paroxysmal disorders, neuromuscular disorders, white matter and demyelination diseases, cerebrovascular diseases, adult psychiatric disorders and cancer and phacomatoses. Contains comprehensive coverage of neurogenetics Details the latest science and its impact on our understanding of neurological, psychiatric disorders Presents a focused reference for clinical practitioners and the neuroscience/neurogenetics research community
Book Synopsis Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases by : Nenad Blau
Download or read book Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases written by Nenad Blau and published by Springer. This book was released on 2014-07-08 with total page 880 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book, combining and updating two previous editions, is a unique source of information on the diagnosis, treatment, and follow-up of metabolic diseases. The clinical and laboratory data characteristic of rare metabolic conditions can be bewildering for both clinicians and laboratory personnel. Reference laboratory data are scattered, and clinical descriptions may be obscure. The Physician’s Guide documents the features of more than five hundred conditions, grouped according to type of disorder, organ system affected (e.g. liver, kidney, etc) or phenotype (e.g. neurological, hepatic, etc). Relevant clinical findings are provided and pathological values for diagnostic metabolites highlighted. Guidance on appropriate biochemical genetic testing is provided. Established experimental therapeutic protocols are described, with recommendations on follow-up and monitoring. The authors are acknowledged experts, and the book will be a valuable desk reference for all who deal with inherited metabolic diseases.
Book Synopsis Inherited Chorioretinal Dystrophies by : Bernard Puech
Download or read book Inherited Chorioretinal Dystrophies written by Bernard Puech and published by Springer. This book was released on 2014-07-19 with total page 488 pages. Available in PDF, EPUB and Kindle. Book excerpt: This lavishly illustrated atlas provides indispensable information to clinicians, geneticists and visual scientists working with inherited retinal diseases. It is filled with high-quality images, up-to-date genetic information and comprehensive electrophysiology. The data for each individual disorder have been summarised in an accessible, reader-friendly format for easy reference. The illustrations include colour fundus photographs, fluorescein angiograms, OCT scans, electrophysiological studies and pedigrees. The editors and authors are well-known experts in the field and have drawn upon their extensive experience to produce this unique atlas.
Book Synopsis Inborn Disorders of Sphingolipid Metabolism by : Stanley M. Aronson
Download or read book Inborn Disorders of Sphingolipid Metabolism written by Stanley M. Aronson and published by Elsevier. This book was released on 2017-01-31 with total page 530 pages. Available in PDF, EPUB and Kindle. Book excerpt: Inborn Disorders of Sphingolipid Metabolism is a collection of papers presented at the Third International Symposium on the Cerebral Sphingolipidoses and Allied Diseases, held at the Isaac Albert Research Institute of the Jewish Chronic Disease Hospital and at the State University of New York, Downstate Medical Center, on October 25 and 26, 1965. This book is organized into three parts encompassing 35 chapters. Part I deals first with electron microscopic, histochemical, and morphological investigations of certain sphingolipid metabolism disorders. This part also examines several case reports on the features and symptoms of spongy degeneration of the central nervous system, familial leukodystrophy, adrenal insufficiency, and cutaneous melanosis. Part II surveys the metabolism, biosynthesis, and structure of gangliosides and sialic acids. This part also considers the nature of the lipophilic portions of the brain gangliosides. This part particularly looks into the features and clinical manifestation of Tay-Sachs disease. The third part covers the genetic and clinical aspects of the Tay-Sachs disease. This part also evaluates the genetics of the Hurler-Hunter syndrome, Batten-Spielmeyer-Vogt disease, and lipogranulomatosis syndrome. This book is of value to biochemists, histochemists, geneticists, and researchers in the allied fields of lipidosis.
Book Synopsis Movement Disorders in Childhood by : Harvey S. Singer
Download or read book Movement Disorders in Childhood written by Harvey S. Singer and published by Academic Press. This book was released on 2015-10-27 with total page 594 pages. Available in PDF, EPUB and Kindle. Book excerpt: Movement Disorders in Childhood, Second Edition, provides the most up-to-date information on the diseases and disorders that affect motor control, an important area of specialization within child neurology. Over the past several decades, advances in genetics, neuroimaging, neurophysiology, and other areas of neuroscience have provided new understanding of the underlying etiologies and mechanisms of these conditions as well as new opportunities for more accurate diagnosis and effective treatment. This new edition builds upon the success of the first edition, with comprehensive scientific and clinical updates of all chapters. In addition, there are new chapters on hereditary spastic paraplegia, quantitative motor assessments, autoimmune disorders, and movement disorders in the developmental neuropsychiatric disorders ADHD, OCD, and autism. Additional materials are provided on the latest in drug treatments, computer based strategies for genetic diagnosis, and helpful videos for phenomenology. Provides the only current reference specifically focused on childhood movement disorders Investigates the underlying etiologies and mechanisms of these disorders Completely revised and updated with new materials and a more disease-oriented approach New coverage of genetics and movement disorders, immunology and movement disorders, and an introduction to the latest quantitative analysis New videos of instructive and unusual childhood movement disorders 2016 BMA Medical Book Awards Highly Commended in Neurology
Book Synopsis Niedermeyer's Electroencephalography by : Donald L. Schomer
Download or read book Niedermeyer's Electroencephalography written by Donald L. Schomer and published by Lippincott Williams & Wilkins. This book was released on 2012-10-18 with total page 1308 pages. Available in PDF, EPUB and Kindle. Book excerpt: The leading reference on electroencephalography since 1982, Niedermeyer's Electroencephalography is now in its thoroughly updated Sixth Edition. An international group of experts provides comprehensive coverage of the neurophysiologic and technical aspects of EEG, evoked potentials, and magnetoencephalography, as well as the clinical applications of these studies in neonates, infants, children, adults, and older adults. This edition's new lead editor, Donald Schomer, MD, has updated the technical information and added a major new chapter on artifacts. Other highlights include complete coverage of EEG in the intensive care unit and new chapters on integrating other recording devices with EEG; transcranial electrical and magnetic stimulation; EEG/TMS in evaluation of cognitive and mood disorders; and sleep in premature infants, children and adolescents, and the elderly. A companion website includes fully searchable text and image bank.
Book Synopsis Neuronal ceroid lipofuscinosis: a multidisciplinary update by : Alessandro Simonati
Download or read book Neuronal ceroid lipofuscinosis: a multidisciplinary update written by Alessandro Simonati and published by Frontiers Media SA. This book was released on 2022-12-08 with total page 111 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Book Synopsis Retinal Degenerations by : Joyce Tombran-Tink
Download or read book Retinal Degenerations written by Joyce Tombran-Tink and published by Springer Science & Business Media. This book was released on 2007-11-06 with total page 466 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book presents new and noteworthy research into retinal diseases. It focuses on what we currently know about the environment, genetics and mechanisms that lead to retinal degenerations, new diagnostics, and innovative therapeutic modalities to preserve vision. Written by renowned scientific investigators, this innovative collection of treatment strategies and technological discoveries allows for the realistic translation of research into practice.
Book Synopsis Neurological Eponyms by : Peter J. Koehler
Download or read book Neurological Eponyms written by Peter J. Koehler and published by Oxford University Press. This book was released on 2000-10-26 with total page 403 pages. Available in PDF, EPUB and Kindle. Book excerpt: Neurology abounds with eponyms--Babinski's sign, Guillain-Barre' syndrome, Alzheimer's disease, etc. Neurologists and neuroscientists, however, are often hazy about the origin of these terms. This book brings together 55 of the most common eponyms related to the neurological examination, neuroanatomy, and neurological diseases. The chapters have a uniform structure: a short biography, a discussion of and a quotation from the original publication, and a discussion of the subsequent evolution and significance of the eponym. Photographs of all but two of the eponymists have been included. The material is organized into sections on anatomy and pathology, symptoms and signs, reflexes and tests, clinical syndromes, and diseases and defects. The selection of eponyms was based on the frequency of use, familiarity of clinical neurologists with the concept, and the significance within neurology of the individual who coined the eponym. This volume covers some of the classic ideas in the history of clinical neurology. It will be of interest to neurologists, neuroscientists, medical historians, and their students and trainees.
Book Synopsis Secondary Schizophrenia by : Perminder S. Sachdev
Download or read book Secondary Schizophrenia written by Perminder S. Sachdev and published by Cambridge University Press. This book was released on 2010-02-04 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt: Schizophrenia may not be a single disease, but the result of a diverse set of related conditions. Modern neuroscience is beginning to reveal some of the genetic and environmental underpinnings of schizophrenia; however, an approach less well travelled is to examine the medical disorders that produce symptoms resembling schizophrenia. This book is the first major attempt to bring together the diseases that produce what has been termed 'secondary schizophrenia'. International experts from diverse backgrounds ask the questions: does this medical disorder, or drug, or condition cause psychosis? If yes, does it resemble schizophrenia? What mechanisms form the basis of this relationship? What implications does this understanding have for aetiology and treatment? The answers are a feast for clinicians and researchers of psychosis and schizophrenia. They mark the next step in trying to meet the most important challenge to modern neuroscience – understanding and conquering this most mysterious of human diseases.
Book Synopsis The Causes of Epilepsy by : Simon Shorvon
Download or read book The Causes of Epilepsy written by Simon Shorvon and published by Cambridge University Press. This book was released on 2019-05-02 with total page 1013 pages. Available in PDF, EPUB and Kindle. Book excerpt: Expanded and revised, this unique book provides concise descriptions of the many causes of epilepsy, for use in clinical practice.
Download or read book Lysosomes written by Paul Saftig and published by Springer Science & Business Media. This book was released on 2007-03-20 with total page 208 pages. Available in PDF, EPUB and Kindle. Book excerpt: Lysosomes are membrane-surrounded organelles which are present in all animal cells. The importance of this organelle is underlined by an increasing number of human diseases, which are associated with an impaired function of the lysosomal compartment. This book summarizes the current state-of-the art knowledge about this unique organelle. It addresses the biogenesis of this compartment, the transport of lysosomal proteins, the role of the lysosomal membrane in lysosomal stability and transport, the function of lysosomal proteases and hydrolases, lysosomal storage disorders, and new concepts on how to treat these diseases. In addition to these classical topics, new insights into lysosomal functions are covered by chapters dealing with specialized lysosomes involved in bone resorption and plasma membrane repair, the lysosomal transciptome, and proteome and the emerging role of lysosomes in special forms of autophagy. This book will provide readers with a comprehensive overview into how this fascinating organelle works and how research in the field is developing.
Author :Antonio V. Delgado-Escueta Publisher :Lippincott Williams & Wilkins ISBN 13 :9780781752480 Total Pages :368 pages Book Rating :4.7/5 (524 download)
Book Synopsis Myoclonic Epilepsies by : Antonio V. Delgado-Escueta
Download or read book Myoclonic Epilepsies written by Antonio V. Delgado-Escueta and published by Lippincott Williams & Wilkins. This book was released on 2005 with total page 368 pages. Available in PDF, EPUB and Kindle. Book excerpt: This volume is the first comprehensive text and clinical reference on idiopathic myoclonic epilepsies of infancy, childhood, adolescence, and adulthood. The world’s foremost experts describe the phenotypes and subtypes of myoclonic epilepsies and the underlying molecular defects and summarize cutting-edge advances in molecular genetics that shed new light on the etiologies of these syndromes. The book offers clinicians much-needed assistance in recognizing and diagnosing idiopathic myoclonic epilepsies and selecting appropriate treatment. Each chapter includes diagnostic and treatment algorithms to guide practitioners in clinical decision making.
