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Author: Martino Ruggieri
Publisher: Springer Science & Business Media
ISBN: 3211695001
Category : Medical
Languages : en
Pages : 1052
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Book Description
The book provides an authoritative source of knowledge about these problematic disorders. It bridges the gap between clinical recognition and the new molecular medicine. The editors, distinguished clinicians and geneticists, assembled an internationally renowned group of collaborators, many of them the experts who first described a particular disorder or established its present accepted definition. They have written a practical, comprehensive guide to the recognition, investigation and management of more than 60 recognised phakomatoses.
Author: Martino Ruggieri
Publisher: Springer Science & Business Media
ISBN: 3211695001
Category : Medical
Languages : en
Pages : 1052
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Book Description
The book provides an authoritative source of knowledge about these problematic disorders. It bridges the gap between clinical recognition and the new molecular medicine. The editors, distinguished clinicians and geneticists, assembled an internationally renowned group of collaborators, many of them the experts who first described a particular disorder or established its present accepted definition. They have written a practical, comprehensive guide to the recognition, investigation and management of more than 60 recognised phakomatoses.
Author: Martino Ruggieri
Publisher: Springer
ISBN: 9783709119075
Category : Medical
Languages : en
Pages : 1070
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Book Description
The book provides an authoritative source of knowledge about these problematic disorders. It bridges the gap between clinical recognition and the new molecular medicine. The editors, distinguished clinicians and geneticists, assembled an internationally renowned group of collaborators, many of them the experts who first described a particular disorder or established its present accepted definition. They have written a practical, comprehensive guide to the recognition, investigation and management of more than 60 recognised phakomatoses.
Author: Christos P. Panteliadis
Publisher: Springer Nature
ISBN: 3030878937
Category : Medical
Languages : en
Pages : 541
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Book Description
This book provides extensive data on the more common and many of the more rare congenital and hereditary syndromes that manifest in the nervous system and skin. Though often complex and multi-systemic, these disorders can frequently be diagnosed using a combination of simple visual inspection and sound clinical expertise. Drawing on fully referenced information from thousands of articles, the international editorial team has prepared a comprehensive overview that includes historical perspectives, clinical features, the pathogenesis, and diagnostic and therapeutic strategies. In addition, it addresses the biochemical, molecular, and genetic basis of the disorders. The book is divided into four main sections. Starting with general aspects of aetiology, diagnostics and therapy, the first part then covers the genetics, neuro-imaging, neuropathology, ocular manifestations and surgical management. The second part discusses developmental malformations, such as Sturge-Weber syndrome, Ataxia-Telangiectasia, Hypomelanosis of Ito and other rare syndromes, including haemangiomas. The focus of the third part is on tumour suppressor/DNA repair disorders, the most common of which is Neurofibromatosis 1. It also describes Neurofibromatosis 2, Schwannomatosis, Tuberous sclerosis, von Hippel-Lindau disease, Naevoid basal cell carcinoma and others. The book’s fourth and final section covers defects in enzymes and structural proteins, which manifest as Cerebrotendinous xanthromatosis, Ehlers-Danlos syndrome, Menkes syndrome, Refsum disease.
Author: Monica P. Islam
Publisher: Elsevier
ISBN: 0444627154
Category : Science
Languages : en
Pages : 346
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Book Description
Neurocutaneous Syndromes provides the most updated and comprehensive resource on the disorders that lead to the growth of tumors in various parts of the body, those caused by the abnormal development of cells in an embryo and characterized by the presence of tumors in various parts of the body and eyes, including the nervous system, and by certain differences in the skin. The most common neurocutaneous syndromes include, neurofibromatosis, Sturge-Weber syndrome, tuberous sclerosis, ataxia-telangiectasia, and von Hippel-Lindau disease. Symptoms vary widely and while present early may not express until later in life. As molecular medicine and genetic science is continuing to impact our understanding of neurocutaneous syndromes, this book also includes the latest molecular and genetic science. Provides a comprehensive coverage of neurocutaneous syndromes Details the latest molecular and genetic science related to neurocutaneous syndromes Presents a focused reference for clinical practitioners and the neuroscience, clinical neurology, and neurogenetics research communities Includes updated sections on the latest molecular and genetic science
Author: Paolo CURATOLO
Publisher: John Libbey Eurotext
ISBN: 2742008705
Category : Medical
Languages : en
Pages : 247
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Book Description
Neurocutaneous syndromes unify a group of rare neurological disorders in which the initial identification depends on simple visual diagnosis. They include a large group of neurological disorders (neurofibromatosis type I, tuberous sclerosis complex, Sturge-Weber Syndrome, Von Hippel Lindau syndrome, hypomelanosis of Ito, and others) which feature cutaneous and ocular lesions, brain malformations, central and peripheral brain tumours, mental retardation, seizures, and psychiatric problems. In the past few years our knowledge of neurocutaneous syndromes has increased dramatically. Detailed information about the clinical features, natural history, and management of these complex multisystem disorders, and new data on the genetics of these conditions, has provided insight into their classification, pathophysiology, molecular biology, and genotype–phenotype correlations.
Author: Christos P. Panteliadis
Publisher: "Elsevier,Urban&FischerVerlag"
ISBN: 3437171178
Category : Medical
Languages : en
Pages : 314
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Book Description
Neurocutaneous syndromes and hemangiomas encompass a substantial proportion of congenital or hereditary disorders, and present themselves through variable clinical features. Though often complex and multi-systemic, these disorders can mostly be diagnosed by simple visual inspections and strong clinical expertise. The purpose of this book is to compile in a single volume a comprehensive review of the historical perspective, the clinical features, the current knowledge concerning the pathogenesis, and the diagnostic and therapeutic strategies associated with these challenging disorders. Strong emphasis throughout is given on the biochemical, molecular, and genetic basis of these syndromes. The international editorial team have drawn upon contributions from colleagues, and from fully referenced information from thousands of articles, thus providing the reader with an outstanding up-to-date resource for the diagnosis and treatment of neurocutaneous disorders.
Author: Manuel Rodriguez Gomez
Publisher: Butterworth-Heinemann
ISBN: 1483182886
Category : Health & Fitness
Languages : en
Pages : 414
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Book Description
Neurocutaneous Diseases is a systematic presentation limited to diseases that affect both of the nervous system and skin of humans. Neurologists and dermatologist will find knowledge of these diseases of real clinical value. Many of the diseases described in these pages do not affect the skin and nervous system simultaneously. Many of these diseases, mostly not well understood, may stimulate new lines of scientific inquiry, for understanding of a pathologic change in easily accessible dermal cells that promises to clarify a more recondite brain disease. This book is organized into five main parts. The chapters describe different types of diseases including those with autosomal dominant inheritance, those with autosomal recessive inheritance, those with x-linked inheritance, those with unknown or multiple inheritance and congenital and vascular anomalies. These diseases include neurofibromatosis, Cockayne's Syndrome, adrenoleukodystrophy, albinism and neurocutaneous melanosis. This book will be of interest to dermatologists and neurologists.
Author: E. Steve Roach
Publisher: Cambridge University Press
ISBN: 9780521781534
Category : Medical
Languages : en
Pages : 370
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Book Description
'The reader is most definitely in for a treat provides the essential clinical and genetic data which points the way to the future.'From the foreword by Roger N. RosenbergThe neurocutaneous disorders comprise a group of neurological disorders featuring skin lesions and often eye lesions, central and peripheral nervous system tumors, brain malformations, mental retardation, and psychiatric syndromes or seizures. This book provides an authoritative, illustrated review of the recognition, investigation, treatment and genetics of these disorders. It will be essential reading for neurologists as well as dermatologists, geneticists and pediatricians.
Author: Marco Mula
Publisher: Academic Press
ISBN: 0128148780
Category : Medical
Languages : en
Pages : 413
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Book Description
Epilepsy is one of most frequent neurological disorders affecting about 50 million people worldwide and 50% of them have at least another medical problem in comorbidity; sometimes this is a the cause of the epilepsy itself or it is due to shared neurobiological links between epilepsy and other medical conditions; other times it is a long-term consequence of the antiepileptic drug treatment. The Comorbidities of Epilepsy offers an up-to-date, comprehensive overview of all comorbidities of epilepsy (somatic, neurological and behavioral), by international authorities in the field of clinical epileptology, with an emphasis on epidemiology, pathophysiology, diagnosis and management. This book includes also a critical appraisal of the methodological aspects and limitations of current research on this field. Pharmacological issues in the management of comorbidities are discussed, providing information on drug dosages, side effects and interactions, in order to enable the reader to manage these patients safely. The Comorbidities of Epilepsy is aimed at all health professionals dealing with people with epilepsy including neurologists, epileptologists, psychiatrists, clinical psychologists, epilepsy specialist nurses and clinical researchers. Provides a comprehensive overview of somatic, neurological and behavioral co-morbidities of epilepsy Discusses up-to-date management of comorbidities of epilepsy Written by a group of international experts in the field
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Languages : en
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