Neurocutaneous Syndromes

Neurocutaneous Syndromes

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: Monica P. Islam

Publisher: Elsevier

ISBN: 9780444627155

Category: Medical

Page: 344

View: 612

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
Categories: Medical

Neurocutaneous Disorders

Neurocutaneous Disorders

The book provides an authoritative source of knowledge about these problematic disorders. It bridges the gap between clinical recognition and the new molecular medicine.

Author: Martino Ruggieri

Publisher: Springer Science & Business Media

ISBN: 9783211695005

Category: Medical

Page: 1070

View: 584

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.
Categories: Medical

Neurocutaneous Disorders

Neurocutaneous Disorders

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.

Author: Christos P. Panteliadis

Publisher: Springer Nature

ISBN: 9783030878931

Category: Electronic books

Page:

View: 960

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 books fourth and final section covers defects in enzymes and structural proteins, which manifest as Cerebrotendinous xanthromatosis, Ehlers-Danlos syndrome, Menkes syndrome, Refsum disease.
Categories: Electronic books

Pediatric Neurology

Pediatric Neurology

A volume in the Handbook of Clinical Neurology series, which has an unparalleled reputation as the world's most comprehensive source of information in neurology International list of contributors including the leading workers in the field ...

Author: Olivier Dulac

Publisher: Newnes

ISBN: 9780444626981

Category: Medical

Page: 892

View: 599

The child is neither an adult miniature nor an immature human being: at each age, it expresses specific abilities that optimize adaptation to its environment and development of new acquisitions. Diseases in children cover all specialties encountered in adulthood, and neurology involves a particularly large area, ranging from the brain to the striated muscle, the generation and functioning of which require half the genes of the whole genome and a majority of mitochondrial ones. Human being nervous system is sensitive to prenatal aggression, is particularly immature at birth and development may be affected by a whole range of age-dependent disorders distinct from those that occur in adults. Even diseases more often encountered in adulthood than childhood may have specific expression in the developing nervous system. The course of chronic neurological diseases beginning before adolescence remains distinct from that of adult pathology – not only from the cognitive but also motor perspective, right into adulthood, and a whole area is developing for adult neurologists to care for these children with persisting neurological diseases when they become adults. Just as pediatric neurology evolved as an identified specialty as the volume and complexity of data became too much for the general pediatician or the adult neurologist to master, the discipline has now continued to evolve into so many subspecialties, such as epilepsy, neuromuscular disease, stroke, malformations, neonatal neurology, metabolic diseases, etc., that the general pediatric neurologist no longer can reasonably possess in-depth expertise in all areas, particularly in dealing with complex cases. Subspecialty expertise thus is provided to some trainees through fellowship programmes following a general pediatric neurology residency and many of these fellowships include training in research. Since the infectious context, the genetic background and medical practice vary throughout the world, this diversity needs to be represented in a pediatric neurology textbook. Taken together, and although brain malformations (H. Sarnat & P. Curatolo, 2007) and oncology (W. Grisold & R. Soffietti) are covered in detail in other volumes of the same series and therefore only briefly addressed here, these considerations justify the number of volumes, and the number of authors who contributed from all over the world. Experts in the different subspecialties also contributed to design the general framework and contents of the book. Special emphasis is given to the developmental aspect, and normal development is reminded whenever needed – brain, muscle and the immune system. The course of chronic diseases into adulthood and ethical issues specific to the developing nervous system are also addressed. A volume in the Handbook of Clinical Neurology series, which has an unparalleled reputation as the world's most comprehensive source of information in neurology International list of contributors including the leading workers in the field Describes the advances which have occurred in clinical neurology and the neurosciences, their impact on the understanding of neurological disorders and on patient care
Categories: Medical

SPEC Handbook of Clinical Neurology Volume 144 Huntington Disease 12 Month Access eBook

SPEC     Handbook of Clinical Neurology  Volume 144  Huntington Disease  12 Month Access  eBook

ISBN 9780444632470 131, Occupational neurology, M. Lotti and M.L. Bleecker, eds. ISBN 9780444626271 132, Neurocutaneous syndromes, M.P. Islam and E.S. Roach, eds. ISBN 9780444627025 133, Autoimmune neurology, S.J. Pittock and A. Vincent ...

Author:

Publisher: Academic Press

ISBN: 9780128019030

Category: Medical

Page: 312

View: 662

Huntington Disease summarizes the most recent findings related to the disease, providing both cutting edge coverage for clinical/research specialists looking to expand their knowledge base of Huntington disease information, as well as solid groundwork for advanced students from various backgrounds (neurology, psychiatry, neuropsychology, genetics). The volume includes all major areas of Huntington disease clinical care and research, whereas many other HD texts focus solely on neurological symptoms. This book also addresses behavioral and cognitive symptoms, brain imaging, and family dynamics and therapeutic alliances in working with individuals affected by HD. Clinical trials are covered extensively, including design considerations for therapeutic studies. The devastating nature of Huntington’s disease is well appreciated throughout the neuroscience, neurology, and psychiatric communities, and a great amount of basic and clinical research is currently taking place. However, much of that occurs in isolated research silos, and it is critical that an interdisciplinary resource be developed to provide in depth information to enhance communication and collaboration. This volume in the Handbook of Clinical Neurology series is that resource. Includes coverage of both basic science and clinical aspects of the disease, as well as treatment, experimental therapeutics, and biomarkers Provides an essential resource for the non-neurologist, including necessary background for understanding the disease before making a more detailed study proposal Provides an interdisciplinary approach that can be applied in everyday clinic and research efforts Features chapters edited by leaders in the field around the globe—the broadest expert coverage available
Categories: Medical

Autoimmune Neurology

Autoimmune Neurology

Handbook of Clinical Neurology, Volume 127, February, 2015, pages 181–93. doi: 10.1016/B978-0-444-52892-6.00012-X. ISBN: 9780444528926. PMID: 25702217. Refers to: Islam/Neurocutaneous Syndromes, Volume 132 Mester J, Charis E. PTEN ...

Author:

Publisher: Elsevier

ISBN: 9780444634467

Category: Science

Page: 568

View: 198

Autoimmune Neurology presents the latest information on autoimmune neurologic disease, the immune response to the body where organs run wild, causing the immune system to attack itself. Autoimmunity is a main element in numerous nervous system diseases and can target any structure within the central or peripheral nervous system. Over the past 20 years, significant advances in our understanding of the pathophysiology of autoimmune disorders, including the use of biomarkers has led to new diagnosis and treatment options. Neurologic conditions associated with autoimmune reactions include dementia, neuromuscular disease, epilepsy, sleep disorders, diabetes, and other common neurologic disorders and disease. This current tutorial-reference will be a must-have title for clinical neurologists, research neurologists, neuroscientists, and any medical professional working with autoimmune disease and disorders. Includes comprehensive coverage of autoimmune neurology Details the latest techniques for the study, diagnosis, and treatment of diseases and disorders, including dementia, neuromuscular disease, epilepsy, and sleep disorders Presents a focused reference for clinical practitioners and the clinical neurology and neurology research communities
Categories: Science

The Founders of Child Neurology

The Founders of Child Neurology

monograph Juvenile Paresis ( 1936 ) by William Menninger thoroughly reviews the childhood neurologic aspects of neurosyphilis . NEUROCUTANEOUS SYNDROMES A recent review in the volume entitled Phakomatoses from the Handbook of Clinical ...

Author: Stephen Ashwal

Publisher: Norman Publishing

ISBN: 0930405269

Category: Medical

Page: 935

View: 253

Categories: Medical

Neurogenetics

Neurogenetics

Both VHL and SWS have recently been extensively reviewed in this series (Handbook of Clinical Neurology, volume 132, Neurocutaneous Syndromes, 2015). The reader is encouraged to refer to these very thorough and detailed expositions.

Author:

Publisher: Elsevier

ISBN: 9780444640772

Category: Medical

Page: 480

View: 779

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
Categories: Medical

Computed Tomography of Congenital Brain Malformations

Computed Tomography of Congenital Brain Malformations

Vinken PJ, Bruyn GW, eds: Handbook of Clinical Neurology. The Phakomatosis. Vol. 14, NorthHolland Publishing Co., Amsterdam, 1972. Yakovlev PI, Guthrie RH: Congenital ectodermoses (neurocutaneous syndromes) in epileptic patients.

Author: Mohammed Sarwar

Publisher: Springer Science & Business Media

ISBN: 9781461325710

Category: Medical

Page: 170

View: 969

Computed tomography (CT) interpretation of congenital malformations of the brain can be quite a difficult and an intimidating task. This book has been written to help allay that intimidation and make CT interpretation of these disorders easier. The embryologic and pathogenetic aspects of these malformations are not clearly defined in every instance; I have tried to present in this work these aspects as I understand them. I hope I have accomplished my objective. Acknowledgments I gratefully acknowledge the superb editorial assistance of Joan Wallace, manuscript typing by Eve VanDine and Susan Morrissey, and the preparation of the illustrations by Tom McCarthy and Ann Curley. Last, but not least, I appreciate the understanding shown by my family during the long preparation of this work. Contents page Dedication ... v Preface ..., vi Acknowledgments ... vii Chapter 1. Introduction. ..." 3 2. Embryology of the Central Nervous System ..." 7 3. Dysgenesis of the Corpus Callosum. ... ... . . 21 ... 4. Holoprosencephaly (prosencephaly), Septo-Optic Dysplasia (deMorsier Syndrome) and Hydrencephaly (Hydranencephaly). ... ... .. . 50 ... 5. Arnold-Chiari Malformation ..." 77 6. Dandy-Walker Malformation ... ~ ... . 96 7. Hydrocephalus ... 115 8. Neurocutaneous Syndromes (phakomatoses) ... 127 9. Miscellaneous: 1) Encephalocele, and Meningoencephalocele and Meningocele ... 144 2) Porencephaly ... 144 3) Microcephaly (Micrencephaly) ... 148 4) Anencephaly ... 153 5) Median Cleft Face Syndrome ... 153 6) Hypertelorism ... 157 7) Hypotelorism ... 157 8) Lissencephaly (Agyria, Pachgyria) ... 157 9) Colpocephaly ... 157 10) Fetal Alcohol Syndrome ... 159 11) Arachnoid Cysts ... ... ... 159 ...
Categories: Medical

Epidemiology of Brain and Spinal Tumors

Epidemiology of Brain and Spinal Tumors

Neurocutaneous syndromes (Volume 132) (Handbook of clinical neurology). Elsevier. ... Spinal cord medicine, 3rd edition À comprehensive evidence-based clinical reference for diagnosis and treatment. Demos Medical.

Author: Jahangir Moini

Publisher: Academic Press

ISBN: 9780128217559

Category: Medical

Page: 552

View: 999

Epidemiology of Brain and Spinal Tumors provides a single volume resource on imaging methods and neuroepidemiology of both brain and spinal tumors. The book covers a variety of imaging techniques, including computed tomography (CT), MRI, positron emission tomography (PET), and other laboratory tests used in diagnosis and treatment. Detailed epidemiology, various imaging methods, and clinical considerations of tumors of the CNS make this an ideal reference for users who will also find diverse information about structures and functions, cytology, epidemiology (including molecular epidemiology), diagnosis and treatment. This book is appropriate for neuroscience researchers, medical professionals and anyone interested in a complete guide to visualizing and understanding CNS tumors. Provides the most up-to-date information surrounding the epidemiology, biology and imaging techniques for brain and spinal tumors, including CT, MRI, PET, and others Includes full color figures, photos, tables, graphs and radioimaging Contains information that will be valuable to anyone interested in the field of neurooncology and the treatment of patients with brain and spinal tumors Serves as a source of background information for basic scientists and pharmaceutical researchers who have an interest in imaging and treatment
Categories: Medical