Author: Sara Mole
Publisher: OUP Oxford
ISBN: 019101558X
Category : Medical
Languages : en
Pages : 772
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Book Description
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.
Author: Sara Mole
Publisher: Oxford University Press
ISBN: 019959001X
Category : Medical
Languages : en
Pages : 475
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Book Description
This second edition is the definitive reference text on the neuronal ceroid lipofuscinoses (NCLs; also known as 'Batten Disease').
Author: Hans H. Goebel
Publisher: IOS Press
ISBN: 9789051994810
Category : Medical
Languages : en
Pages : 216
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Book Description
The European Concerted Action on the "Neuronal Ceroid Lipofuscinoses (NCL)", probably the most frequent group of progressive neurodegenerative disorders in children, has been the subject of a 3-year European Concerted Action (ECA-"NCL"), within the Biomed 2 programme, listed among "Rare diseases". The NCL are a lysosomal disease which have recently been confirmed by important genetic studies on the NCL which revealed a diversity of at least 8 gene loci related to this group of diseases. ECA-"NCL" represents a multi-national, multi-disciplinary network of researchers on the NCL which have provided new data on this group of diseases. In this book, clinical features, neuroradiological and electrophysiological data, morphological aspects, genetic data and biochemical results will be provided by actively engaged researchers on NCL from this Concerted Action, who have also provided major presentations at the two recent International Congresses of NCL: 1996 in Helsinki (NCL-96) and 1998 in Dallas (NCL-98). Thus, this book represents a state of the art written both for active researchers on NCL and other lysosomal and neurodegenerative diseases, as well as for those interested in NCL for other reasons, foremost patients (and their parents). Tables, illustrations, and most recent references will accomplish the text produced and edited by an editorial board consisting of participants of this ECA-"NCL". At the end of this state-of-the-art presentation, future lines of research - including therapies - will be outlined and emphasized what will have to be done to arrive at complete elucidation of this group of progressive neurodegenerative disorders.
Author: Juan M. Pascual
Publisher: Cambridge University Press
ISBN: 1107042054
Category : Medical
Languages : en
Pages : 507
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Book Description
A review of childhood neurodegenerative and other progressive but non-degenerative disorders to guide their diagnosis and management.
Author: S.R. Benbadis
Publisher: Springer Science & Business Media
ISBN: 1848821271
Category : Medical
Languages : en
Pages : 1966
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Book Description
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.
Author: Nenad Blau
Publisher: Springer
ISBN: 3642403379
Category : Medical
Languages : en
Pages : 880
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Book Description
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.
Author: Bernard Puech
Publisher: Springer
ISBN: 3540694668
Category : Medical
Languages : en
Pages : 501
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Book Description
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.
Author: Stanley M. Aronson
Publisher: Elsevier
ISBN: 1483223582
Category : Health & Fitness
Languages : en
Pages : 530
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Book Description
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.
Author: Kirk Lalwani
Publisher: Oxford University Press
ISBN: 0190685174
Category : Medical
Languages : en
Pages : 639
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Book Description
Linking existing knowledge to new knowledge by presenting it in the form of a case or a problem is a popular and effective educational approach resulting in better retention of the knowledge and improved ability to apply that knowledge to solve real problems. This problem-based learning (PBL) method was introduced into medical education at McMaster University in Ontario, Canada, in 1969. Since then it has been widely incorporated into secondary, undergraduate, and graduate education in a variety of disciplines worldwide. This new volume for the Anesthesiology Problem-Based Learning series reviews pediatric anesthesia utilizing the PBL approach. Each chapter deals with conditions and problems in pediatric anesthesia practice presented as a case stem with questions to encourage critical thinking, followed by an evidence-based discussion and multiple-choice questions for self-assessment. Cases were carefully selected to present a broad systems-based tour of commonly encountered clinical cases in pediatric anesthesia. The book can be used to review an upcoming clinical case or as a PBL tool. The 'Stem Case and Key Questions' and 'Discussion' sections can serve as the basis for interactive learning experiences for study groups or as a broad yet in-depth clinical review of the subspecialty for the individual learner. Self-assessment questions can be used as a measure of knowledge acquisition or simply as a question bank to prepare for examinations.
Author: Harvey S. Singer
Publisher: Academic Press
ISBN: 0124115802
Category : Medical
Languages : en
Pages : 601
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Book Description
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
