The Neuronal Ceroid Lipofuscinoses (Batten Disease)
The Neuronal Ceroid Lipofuscinoses (Batten Disease)

Author: Sara Mole

Publisher: OUP Oxford

Published: 2011-03-10

Total Pages: 772

ISBN-13: 019101558X

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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.

Progressive Brain Disorders in Childhood
Progressive Brain Disorders in Childhood

Author: Juan M. Pascual

Publisher: Cambridge University Press

Published: 2017-04-20

Total Pages: 507

ISBN-13: 1107042054

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A review of childhood neurodegenerative and other progressive but non-degenerative disorders to guide their diagnosis and management.

Atlas of Epilepsies
Atlas of Epilepsies

Author: S.R. Benbadis

Publisher: Springer Science & Business Media

Published: 2010-09-20

Total Pages: 1966

ISBN-13: 1848821271

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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.

Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases
Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases

Author: Nenad Blau

Publisher: Springer

Published: 2014-07-08

Total Pages: 880

ISBN-13: 3642403379

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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.

Inherited Chorioretinal Dystrophies
Inherited Chorioretinal Dystrophies

Author: Bernard Puech

Publisher: Springer

Published: 2014-07-19

Total Pages: 501

ISBN-13: 3540694668

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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.

Movement Disorders in Childhood
Movement Disorders in Childhood

Author: Harvey S. Singer

Publisher: Academic Press

Published: 2015-10-27

Total Pages: 601

ISBN-13: 0124115802

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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

Inborn Disorders of Sphingolipid Metabolism
Inborn Disorders of Sphingolipid Metabolism

Author: Stanley M. Aronson

Publisher: Elsevier

Published: 2017-01-31

Total Pages: 530

ISBN-13: 1483223582

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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.

Neurogenetics, Part II
Neurogenetics, Part II

Author:

Publisher: Elsevier

Published: 2018-01-29

Total Pages: 480

ISBN-13: 0444640770

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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

Batten Disease: Diagnosis, Treatment, and Research
Batten Disease: Diagnosis, Treatment, and Research

Author:

Publisher: Elsevier

Published: 2001-04-23

Total Pages: 258

ISBN-13: 008049031X

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This title will present all current knowledge of Batten disease from research to clinical evaluation. NCL is not well recognized in underdeveloped countries because the diagnostic technology is lacking. With the information in this volume, however, a specific diagnosis of NCL could be made. Also, specific familial mutations obtained through genetic tests may guide prenatal diagnoses for at-risk families.

Myoclonic Epilepsies
Myoclonic Epilepsies

Author: Antonio V. Delgado-Escueta

Publisher: Lippincott Williams & Wilkins

Published: 2005

Total Pages: 368

ISBN-13: 9780781752480

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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.