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Author: Martino Ruggieri Publisher: Springer Science & Business Media ISBN: 3211695001 Category : Medical Languages : en Pages : 1052
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
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: Monica P. Islam Publisher: Elsevier ISBN: 9780444627025 Category : Medical Languages : en Pages : 0
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.
Author: Manuel Rodriguez Gomez Publisher: Butterworth-Heinemann ISBN: 1483182886 Category : Health & Fitness Languages : en Pages : 414
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: Paolo CURATOLO Publisher: John Libbey Eurotext ISBN: 2742008705 Category : Medical Languages : en Pages : 248
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: Monica P. Islam Publisher: Elsevier ISBN: 0444627154 Category : Medical Languages : en Pages : 344
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: Christos P. Panteliadis Publisher: "Elsevier,Urban&FischerVerlag" ISBN: 3437171178 Category : Medical Languages : en Pages : 314
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: Christos P. Panteliadis Publisher: Springer Nature ISBN: 3030878937 Category : Medical Languages : en Pages : 541
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: Ranthilaka R. Ranawaka Publisher: Springer Nature ISBN: 9811554838 Category : Medical Languages : en Pages : 1048
Book Description
This book focuses on the representation of dermatological diseases in pigmented skin, fills an important gap in the literature, and facilitates better dermatological diagnosis when dealing with patients of various ethnicities. It discusses over 400 diseases and their representations with the help of over 2000 high-quality images and illustrations. This book elaborates on each single disease using easy-to-follow schematics and a focused approach to facilitate reader learning. Pursuing a comprehensive, the book covers not only common skin diseases such as psoriasis, lichen planus, eczema, erythrasma, cutaneous tuberculosis, leprosy, leishmaniasis and oral submucous fibrosis, but also rare tropical diseases such as sporotrichosis, mycetoma, rhinosporodiosis, lobomycosis, mucormycosis and subcutaneous zygomycosis. It also addresses aesthetic concerns by covering hypopigmented and hyperpigmented disorders in pigmented skin such as guttate hypomelanosis, vitiligo, progressive macular hypomelanosis, chemical or physical induced depigmentation, melasma, sebo-melanosis, lichen and macular amyloidosis. Offering comprehensive coverage of dermatological disorders and diseases in pigmented skin, the book is a must-have resource for dermatology trainees and practitioners who treat or care for pigmented skin patients.
Author: Bin Chen Publisher: Academic Press ISBN: 0128144106 Category : Medical Languages : en Pages : 428
Book Description
Neurodevelopmental Disorders, the latest release in the Comprehensive Developmental Neuroscience series, presents the most thorough coverage available, addressing all aspects on how the nervous system and its components develop. This book brings together the latest research in this rapidly evolving field, with section editors discussing the technological advances that are enabling the pursuit of new research on brain development. This volume focuses on neurodevelopmental disorders in humans and experimental organisms. Particular attention is paid to the effects of abnormal development and on new psychiatric/neurological treatments being developed based on our increased understanding of developmental mechanisms. Features leading experts in various subfields as section editors and article authors Presents articles that have been peer reviewed to ensure accuracy, thoroughness and scholarship Covers disorders of the nervous system that arise through defects in neural development
Author: Martino Ruggieri
Author: Martino Ruggieri
Author: Monica P. Islam
Author: Manuel Rodriguez Gomez
Author: Paolo CURATOLO
Author: Monica P. Islam
Author: Christos P. Panteliadis
Author: Christos P. Panteliadis
Author: 
Author: Ranthilaka R. Ranawaka
Author: Bin Chen