Download or read book Neurocutaneous Syndromes in Children written by Paolo Curatolo and published by John Libbey Eurotext. This book was released on 2006 with total page 247 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Neurocutaneous Disorders written by Martino Ruggieri and published by Springer Science & Business Media. This book was released on 2009-10-01 with total page 1052 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Neurocutaneous Disorders written by Christos P. Panteliadis and published by Springer Nature. This book was released on 2022-02-03 with total page 541 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Neurocutaneous Syndromes written by Monica P. Islam and published by Elsevier. This book was released on 2015-11-09 with total page 346 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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
Download or read book Neurocutaneous Diseases written by Manuel Rodriguez Gomez and published by Butterworth-Heinemann. This book was released on 2013-10-22 with total page 414 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Neurocutaneous Disorders written by E. Steve Roach and published by Cambridge University Press. This book was released on 2004-01-08 with total page 370 pages. Available in PDF, EPUB and Kindle. Book excerpt: '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.
Download or read book Neurocutaneous Syndromes Advances in Research and Treatment 2011 Edition written by and published by ScholarlyEditions. This book was released on 2012-01-09 with total page 19 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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/.
Download or read book Neuester Expropriations Codex oder vergleichende Darstellung der wichtigsten ltern und neuern Gesetze und Verordnungen ber Enteignung Kanal und Stra enbau Eisenbahnen u dgl written by and published by . This book was released on 1837 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Mayo Clinic Neurology Board Review written by Kelly D. Flemming and published by Oxford University Press. This book was released on 2021-08-12 with total page 1289 pages. Available in PDF, EPUB and Kindle. Book excerpt: Mayo Clinic Neurology Board Review, Second Edition is designed to assist both physicians-in-training who are preparing for the initial American Board of Psychiatry and Neurology (ABPN) certification examination and neurologists who are preparing for recertification. Trainees and other physicians in related specialties such as psychiatry, neurosurgery, or physiatry may also find this book useful for review or in preparation for their own certification examinations.
Download or read book Neurocutaneous Disorders written by Christos P. Panteliadis and published by "Elsevier,Urban&FischerVerlag". This book was released on 2016-01-14 with total page 315 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Mosaicism in Human Skin written by Rudolf Happle and published by Springer Nature. This book was released on 2022-11-24 with total page 252 pages. Available in PDF, EPUB and Kindle. Book excerpt: This second edition offers a fully revised and updated work on a rapidly growing field of knowledge, and was prepared by two experts whose goal was to explain the molecular basis of mosaic skin disorders in a language that is accessible for practicing physicians and medical students alike. It presents a timely and comprehensive overview of the strikingly manifold patterns and peculiarities of mosaic skin disorders in a straightforward, reader-friendly way that will help physicians to further improve genetic counseling and treatment outcomes. The first two parts of the book are devoted to the mechanisms and patterns of cutaneous mosaicism, and include an explanation of genomic and epigenetic mosaicism and a description of the archetypical segmental patterns including the lines of Blaschko and the flag-like, phylloid and lateralization pattern, the non-segmental pattern of large congenital melanocytic nevi, and the sash-like arrangement as noted in a particular type of cutis tricolor. The concept of lethal mutations surviving as mosaics has now been confirmed by molecular analysis in many sporadically occurring phenotypes. The difference between monoallelic and biallelic traits has deepened our understanding of hereditary mosaics, especially of multiple benign skin tumors. Moreover, recognition of the fundamental difference between the simple segmental and the superimposed types of mosaicism is important for the purpose of genetic counseling. In the third part, the various mosaic skin disorders are examined in depth, including nevi, didymotic disorders, other binary genodermatoses, mosaic manifestations of autosomal skin disorders, and nevoid skin disorders such as phenotypes reflecting functional X-chromosome mosaicism or a superimposed mosaic manifestation of common skin diseases with a polygenic background. Reader-friendly and clearly structured, Mosaicism in Human Skin will appeal to both experienced dermatologists and residents in training, as well as to medical geneticists and pediatricians.
Download or read book Neurocutaneous Disorders Haemangiomas written by Christos P. Panteliadis and published by Anshan Pub. This book was released on 2007 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Neurocutaneous syndromes and hemangiomas encompass a substantial number of cogential or hereditary disorders, and present themselve 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 was to compile in a single volume a comprehensive review of the historical perspective, the clinical features, the current knowledge concerning the pathogenesis of each disease, and the diagnostic and therapeutic strategies associated with these challenging disorders. In particular, there is a strong emphasis throughout on the biochemical, molecular, and genetic basis of these syndromes. The international editorial team have drawn upon contributors from colleagues, and from fully referenced information from thousands of articles and abstracts from over 600 publications, thus providing the reader with an outstanding resource for the diagnosis and treatment of neurocutaneous disorders. Thsi book will prove to be an invaluable reference work for all practising and trainee neurologists, paediatricians, dermatologists, pathologists and haematologists.
Download or read book Atlas of Gross Neuropathology Book and Online Bundle written by Kathreena M. Kurian and published by Cambridge University Press. This book was released on 2014-08-21 with total page 243 pages. Available in PDF, EPUB and Kindle. Book excerpt: Unparalleled access to the entire central nervous system with over four hundred gross neuropathology images from adult and paediatric post-mortem tissues.
Download or read book Pediatric Neurology written by Kenneth F. Swaiman and published by Elsevier Health Sciences. This book was released on 2006-01-01 with total page 2535 pages. Available in PDF, EPUB and Kindle. Book excerpt: This Gold Standard in clinical child neurology presents the entire specialty in the most comprehensive, authoritative, and clearly written fashion. Its clinical focus, along with relevant science, throughout is directed at both the experienced clinician and the physician in training. New editor, Dr. Ferriero brings expertise in neonatal neurology to the Fourth Edition. New chapters: Pathophysiology of Hypoxic Ischemic Encephalopathy, Congenital Disorders of Glycosylation, Pediatric Neurotransmitter Diseases, Neurophysiology of Epilepsy, Genetics of Epilepsy, Pediatric Neurorehabilitation Medicine, Neuropsychopharmacology, Pain and Palliative Care Management, Ethical Issues in Child Neurology
Download or read book Neurocutaneous Syndromes Advances in Research and Treatment 2012 Edition written by and published by ScholarlyEditions. This book was released on 2012-12-26 with total page 24 pages. Available in PDF, EPUB and Kindle. Book excerpt: Neurocutaneous Syndromes—Advances in Research and Treatment: 2012 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: 2012 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: 2012 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/.
Download or read book Neurocutaneous Disorders written by and published by . This book was released on 2008 with total page 1070 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book The Causes of Epilepsy written by Simon Shorvon and published by Cambridge University Press. This book was released on 2019-05-02 with total page 1013 pages. Available in PDF, EPUB and Kindle. Book excerpt: Expanded and revised, this unique book provides concise descriptions of the many causes of epilepsy, for use in clinical practice.
