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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: 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: 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:
Publisher: ScholarlyEditions
ISBN: 1464961573
Category : Medical
Languages : en
Pages : 19
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Book Description
Neurocutaneous Syndromes: Advances in Research and Treatment: 2011 Edition is a ScholarlyPaper™ that delivers timely, authoritative, and intensively focused information about Neurocutaneous Syndromes in a compact format. The editors have built Neurocutaneous Syndromes: Advances in Research and Treatment: 2011 Edition on the vast information databases of ScholarlyNews.™ You can expect the information about Neurocutaneous Syndromes 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 Neurocutaneous Syndromes: Advances in Research and Treatment: 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/.
Author: Harvey B. Sarnat
Publisher: Elsevier Inc. Chapters
ISBN: 0128077417
Category : Medical
Languages : en
Pages : 22
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Book Description
Neural crest progenitor cells are identified at the lateral margins of the neural placode at the time of gastrulation. With folding of the placode, these precursors are brought to the dorsal midline of the neural tube at the site of closure, become committed to neural crest lineage and almost immediately migrate peripherally to various predetermined sites in the body and then differentiate as a variety of cellular types in all three of the traditional “germ layers.” All of these processes of migration and differentiation of neural crest are precisely genetically programed, temporally and spatially, by a variety of genes. Primary neurocutaneous syndromes are all very different diseases with different genetic mutations, but the unifying factor amongst them is that all are neurocristopathies and can be explained as such, including the tumor-suppressor function of several of these genes, especially those of neurofibromatosis 1 and 2 and tuberous sclerosis. This chapter reviews the principal genes that program neural crest development and also are documented, implicated, or suspected in the pathogenesis of neurocutaneous syndromes. Recent genetic discoveries are noted in epidermal nevus syndrome, including Proteus syndrome and their association with hemimegalencephaly and congenital infiltrating lipomatosis of the face.
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: Paolo Curatolo
Publisher: John Libbey Eurotext
ISBN: 2742006095
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 disgnosis. They include a large group of neurological disorders which feature cutaneous and ocular lesions, brain malformations, central and peripheral brain tumours, mental retardation, seizures and psychiatric problems. In the last few years, our knowledge of neurocutaneous syndromes has increased substantially. The aim of this volume is to provide an updated developmental perspective on these multifaceted conditions and to review their major clinical features, in particular their embryological basis, clinical molecular genetics, diagnostic protocols and novel therapeutic approaches.
Author: Simon Shorvon
Publisher: Cambridge University Press
ISBN: 1108420753
Category : Medical
Languages : en
Pages : 1013
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Book Description
Expanded and revised, this unique book provides concise descriptions of the many causes of epilepsy, for use in clinical practice.
Author: Christos P. Panteliadis
Publisher: "Elsevier,Urban&FischerVerlag"
ISBN: 3437171178
Category : Medical
Languages : en
Pages : 315
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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: Mustafa Salih
Publisher: Springer
ISBN: 9783319431529
Category : Medical
Languages : en
Pages : 700
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Book Description
This book, which will hold global appeal, adopts a problem-based approach to childhood disorders of the nervous system with the aim of supporting practicing child neurologists, pediatricians, and residents in training in their management of children with neurological disorders. Throughout, the practical assistance that it offers is based firmly on the best available current scientific evidence. The various pediatric neurologic diseases and organ systems are covered by pediatric neurologists and scientists from leading university hospitals and health centers in both the developed and the developing world. In addition to the full range of more frequent disorders, the book spans the neurological aspects of neglected tropical diseases and neurogenetic diagnostic and management algorithms utilizing the power of emerging DNA technology. A further feature is the inclusion of didactic videos relating to epileptic and movement disorders. As an open access publication with a strong clinical focus, the book will be a handy and valuable reference and resource for all practitioners who deal with childhood neurological disorders.
Author: Paritosh Prasad
Publisher: Lippincott Williams & Wilkins
ISBN: 1451153015
Category : Medical
Languages : en
Pages : 273
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Book Description
Prepared by residents and attending physicians at Massachusetts General Hospital for Children, Pocket Pediatrics follows the style of Pocket Medicine, one of the best-selling references for medical students, interns, and residents. This pocket-sized looseleaf can be used on the wards and by candidates reviewing for pediatric board exams. In bulleted lists, tables, and algorithms, Pocket Pediatrics provides key clinical information about common pediatric problems in cardiology, pulmonology, gastroenterology, nephrology, hematology-oncology, infectious diseases, endocrinology, rheumatology, and neurology as well as on the well patient and the patient in the ICU. The six-ring binder resembles the familiar "pocket brain" notebook that most students and interns carry and allows users to add notes.
