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.
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').
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 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 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.
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
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.
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 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.
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 Neuronal Ceroid Lipofuscinoses New Insights for the Healthcare Professional 2011 Edition written by and published by ScholarlyEditions. This book was released on 2012-01-09 with total page 17 pages. Available in PDF, EPUB and Kindle. Book excerpt: Neuronal Ceroid Lipofuscinoses: New Insights for the Healthcare Professional: 2011 Edition is a ScholarlyPaper™ that delivers timely, authoritative, and intensively focused information about Neuronal Ceroid Lipofuscinoses in a compact format. The editors have built Neuronal Ceroid Lipofuscinoses: New Insights for the Healthcare Professional: 2011 Edition on the vast information databases of ScholarlyNews.™ You can expect the information about Neuronal Ceroid Lipofuscinoses in this eBook to be deeper than what you can access anywhere else, as well as consistently reliable, authoritative, informed, and relevant. The content of Neuronal Ceroid Lipofuscinoses: New Insights for the Healthcare Professional: 2011 Edition has been produced by the world’s leading scientists, engineers, analysts, research institutions, and companies. All of the content is from peer-reviewed sources, and all of it is written, assembled, and edited by the editors at ScholarlyEditions™ and available exclusively from us. You now have a source you can cite with authority, confidence, and credibility. More information is available at http://www.ScholarlyEditions.com/.
Download or read book Principles and Practice of Clinical Electrophysiology of Vision second edition written by John R. Heckenlively and published by MIT Press. This book was released on 2006-04-07 with total page 1033 pages. Available in PDF, EPUB and Kindle. Book excerpt: The long-awaited second edition of an authoritative reference on electrophysiologic vision testing, including detailed information on techniques and problems, basic physiology and anatomy, theoretical concepts, and clinical findings; with extensive new material. This authoritative text is the only comprehensive reference available on electrophysiologic vision testing, offering both practical information on techniques and problems as well as basic physiology and anatomy, theoretical concepts, and clinical correlations. The second edition, of the widely used text, offers extensive new material and updated information: 65 of the 84 chapters are completely new, with the changes reflecting recent advances in the field. The book will continue to be an essential resource for practitioners and scholars from a range of disciplines within vision science. The contributions not only cover new information—important material that is likely to become more important in the next decade—but also offer a long-range perspective on the field and its remarkable development in the last century. After discussing the history and background of clinical electrophysiology, the book introduces the anatomy of the retina and principles of cell biology in the visual pathways at the molecular, physiological, and biochemical levels. It relates these new findings to the techniques and interpretations of clinical tests, including the electro-oculogram (EOG), electroretinogram (ERG), and visual evoked potentials (VEP), which are discussed in detail, as are equipment, data acquisition and analysis, principles and protocols for clinical testing, diseases and dysfunction, and animal testing. Notable additions for this edition include chapters on the origin of electroretinogram waveforms, multifocal techniques, testing in standard laboratory animals, recent advances in analysis of abnormalities in disease, and the applications of these techniques to the study of genetic abnormalities.
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:
Download or read book Developmental Neuropathology written by Reinhard L. Friede and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 591 pages. Available in PDF, EPUB and Kindle. Book excerpt: I was gratified by the most favorable reception and wide usage received by the first edition of this book. A decade seems to be a short period for a book on pathology, and yet it witnessed many important changes of concepts, along with a formidable growth of knowledge. The second edition required extensive reorganization. There are new chapters on mitochondriopathies, on peroxisomal diseases and on spongy myelino pathies. Major revisions and new additions were necessary in many chapters, for instance those on the dysplasias of the cerebral and of the cerebellar hemispheres, which were largely reorganized. The chapters on perinatal pathology were reordered and reorganized to give a more logical sequence of prenatal, perinatal and postnatal lesions. The entire text was worked over for brevity. A wealth of new references was added with the. aim of staying abreast with the literature up to summer 1988. All refer ences were double checked for errors. My gratitude goes to Mrs. Gisela Ropte and Mrs. Cynthia Bunker for their untiring, diligent help. As a result, this second edition is an essentially rewritten text. Advance in the prevention of human suffering is based on a thorough understand ing of the nature of disease. I hope that this text will continue to be of service in this behalf. Perhaps it may also reflect and foster the intellectual curiosity which makes the "reading of brains" so interesting an occupation. Gottingen, 1989 Reinhard L.
Download or read book Inherited Metabolic Disease in Adults written by Carla E. M. Hollak and published by Oxford University Press. This book was released on 2016 with total page 657 pages. Available in PDF, EPUB and Kindle. Book excerpt: As clinical management of inherited metabolic diseases (IMDs) has improved, more patients affected by these conditions are surviving into adulthood. This trend, coupled with the widespread recognition that IMDs can present differently and for the first time during adulthood, makes the need for a working knowledge of these diseases more important than ever. Inherited Metabolic Disease in Adults offers an authoritative clinical guide to the adult manifestations of these challenging and myriad conditions. These include both the classic pediatric-onset conditions and a number of new diseases that can manifest at any age. It is the first book to give a clear and concise overview of how this group of conditions affects adult patients, a that topic will become a growing imperative for physicians across primary and specialized care.
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
Download or read book Metabolic Diseases written by E. Gilbert-Barness and published by IOS Press. This book was released on 2017-01-06 with total page 960 pages. Available in PDF, EPUB and Kindle. Book excerpt: The 2nd Edition of Metabolic Diseases provides readers with a completely updated description of the Foundations of Clinical Management, Genetics, and Pathology. A distinguished group of 31 expert authors has contributed 25 chapters as a tribute to Enid Gilbert-Barness and the late Lewis Barness--- both pioneers in this topic. Enid’s unique perspectives on the pathology of genetic disorders and Lew’s unsurpassed knowledge of metabolism integrated with nutrition have inspired the contributors to write interdisciplinary descriptions of generally rare, and always challenging, hereditary metabolic disorders. Discussions of these interesting genetic disorders are organized in the perspective of molecular abnormalities leading to morphologic disturbances with distinct pathology and clinical manifestations. The book emphasizes recent advances such as development of improved diagnostic methods and discovery of new, more effective therapies for many of the diseases. It includes optimal strategies for diagnosis and information on access to specialized laboratories for specific testing. The target audience is a wide variety of clinicians, including pediatricians, neonatologists, obstetricians, maternal-fetal specialists, internists, pathologists, geneticists, and laboratorians engaged in prenatal and/or neonatal screening. In addition, all scientists and health science professionals interested in metabolic diseases will find the comprehensive, integrated chapters informative on the latest discoveries. It is our hope that the 2nd Edition will open new avenues and vistas for our readers and that they will share with us the interest, excitement and passion of the research into all these challenging disorders.
