Download or read book Neurofibromatosis Type 1 written by Meena Upadhyaya and published by Springer Science & Business Media. This book was released on 2013-01-29 with total page 711 pages. Available in PDF, EPUB and Kindle. Book excerpt: Neurofibromatosis type 1 (NF1), caused by mutational inactivation of the NF1 tumour suppressor gene, is one of the most common dominantly inherited human disorders, affecting 1 in 3000 individuals worldwide. This book presents in concise fashion, but as comprehensively as possible, our current state of knowledge on the molecular genetics, molecular biology and cellular biology of this tumour predisposition syndrome. Written by internationally recognized experts in the field, the 44 chapters that constitute this edited volume provide the reader with a broad overview of the clinical features of the disease, the structure and expression of the NF1 gene, its germ line and somatic mutational spectra and genotype-phenotype relationships, the structure and function of its protein product (neurofibromin), NF1 modifying loci, the molecular pathology of NF1-associated tumours, animal models of the disease, psycho-social aspects and future prospects for therapeutic treatment.
Download or read book The Neurofibromatoses written by and published by . This book was released on 1995 with total page 12 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Clinical and Basic Aspects of Neurofibromatosis Type 1 written by Juichiro Nakayama and published by BoD – Books on Demand. This book was released on 2022-02-23 with total page 144 pages. Available in PDF, EPUB and Kindle. Book excerpt: Neurofibromatosis type 1 (NF1), also known as von Recklinghausen disease, is a major monogenic neurocutaneous disorder. The NF1 gene encodes the protein neurofibromin whose dysfunction promotes tumorigenesis in central and peripheral neuronal tissues. In addition to inducing the formation of cutaneous pigmented lesions or neurofibromas, NF1 affects multiple organ systems, resulting in neurological and psychiatric disorders, orthopedic conditions, and impaired endocrine functions. This book examines the fundamental, clinical, and basic aspects of NF1 over three sections and nine chapters. Topics addressed include bone lesions in children with NF1, diffuse neurofibromatous tissue, seizures in adults with NF1, Ras-GAP function of neurofibromin, endocrine disorders characteristic of NF1, and more.
Download or read book Multidisciplinary Approach to Neurofibromatosis Type 1 written by Gianluca Tadini and published by Springer Nature. This book was released on 2020-06-02 with total page 316 pages. Available in PDF, EPUB and Kindle. Book excerpt: This volume offers an update of the clinical signs, diagnostic criteria (including molecular diagnosis) and targeted therapies for a particular type of genodermatosis, providing a handy and unique tool for early diagnosis. In recent years, our understanding of genodermatosis and neurocutaneous syndromes has increased, but although Type 1 Neurofibromatosis (NF1) is the most common neuroectodermal disorder and involves a large number of patients and medical disciplines, this syndrome remains underestimated, often misdiagnosed thus leading to inaccurate treatment. The literature on the molecular and pathogenetic aspects is ample, but current clinical approaches, classification, diagnostic criteria and treatment protocols are outdated, creating difficulties in early diagnosis and treatment. As such, a chapter is devoted renewing current diagnostic criteria; it includes clinical and molecular data, to offer a sound, updated discussion basis for a consensus conference. NF1 is a “time-dependent” disorder, meaning that the onset of clinical signs are closely linked to patient age and the book discusses this particularly neglected aspect extensively, as well as the latest molecular diagnosis techniques, which are highly sensitive have not been included in the diagnostic criteria. It also explains the role of the RAS-MAPK pathway and genotype-phenotype correlations. In addition it explores new concepts concerning the pathogenesis of neurofibromas and other hamarthomas and their relevance for a modern therapeutical approach with targeted molecular drugs, as well as newly discovered aspects of NF1 in all internal organs, together with their diagnostic counterparts. A chapter on mosaic neurofibromatosis is also included. There is a particular focus on differential diagnosis (i.e. other diseases with café-au-lait macules), and the recently described Legius syndrome will be presented directly by Prof Eric Legius. All chapters are easy-to-understand, up-to-date, comprehensive and concise tools and are intended for a wide range of professionals involved with genetic disorders of the skin and neurocutaneous diseases: dermatologists, pediatricians, neurologists, oncologists and general practitioners.
Download or read book Neurofibromatosis Type I written by Senior Lecturer in Medical Genetics David N Cooper, Dr and published by Academic Press. This book was released on 1998-05 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Neurofibromatosis type 1 (NF1) is one of the most common dominantly inherited neurogenetic disorders. Affecting 1 in 4000 individuals worldwide. Symptoms include facial and body disfigurement, mental retardation and abnormalities of the cardiovascular, renal and endocrine systems. This book is written for a broad readership ranging from students to professionals. It provides the reader with a basic overview of the disease before discussing the most recent research and therapeutic developments in detail. It is essential reading for medical geneticists, molecular biologists, dermatologists, oncologists, neurologists, genetic counsellors, general practitioners and research students. The volume attempts to cover clinical aspects of the disease; gene structure, expression and mutation; structural and functional aspects of the encoded protein, neurofibromin; the role of the "NF1"gene as a tumour suppressor, the emerging genotype-phenotype relationship for NF1, animal models of the disease and future prospects for disease treatment and prevention.
Download or read book Cassidy and Allanson s Management of Genetic Syndromes written by John C. Carey and published by John Wiley & Sons. This book was released on 2021-01-27 with total page 1104 pages. Available in PDF, EPUB and Kindle. Book excerpt: MANAGEMENT OF GENETIC SYNDROMES THE MOST RECENT UPDATE TO ONE OF THE MOST ESSENTIAL REFERENCES ON MEDICAL GENETICS Cassidy and Allanson’s Management of Genetic Syndromes, Fourth Edition is the latest version of a classic text in medical genetics. With newly covered disorders and cutting-edge, up-to-date information, this resource remains the most crucial reference on the management of genetic syndromes in the field of medical genetics for students, clinicians, caregivers, and researchers. The fourth edition includes current information on the identification of genetic syndromes (including newly developed diagnostic criteria), the genetic basis (including diagnostic testing), and the routine care and management for more than 60 genetic disorders. Written by experts, each chapter includes sections on: Incidence Diagnostic criteria Etiology, pathogenesis and genetics Diagnostic testing Differential diagnosis Manifestations and Management (by system) The book focuses on genetic syndromes, primarily those involving developmental disabilities and congenital defects. The chapter sections dealing with Manifestations and Management represents the centerpiece of each entry and is unmatched by other genetic syndrome references. Management of Genetic Syndromes is perfect for medical geneticists, genetic counselors, primary care physicians and all healthcare professionals seeking to stay current on the routine care and management of individuals with genetic disorders.
Download or read book Diagnosis of Musculoskeletal Tumors and Tumor like Conditions written by Piero Picci and published by Springer Nature. This book was released on 2019-12-06 with total page 346 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book, now in a second revised edition, casts light on the often complex diagnosis of musculoskeletal tumors and tumor-like conditions by drawing on the experience of the Rizzoli Orthopedic Institute during more than 100 years of treatment and research in the field. The different entities are described from a multidisciplinary perspective, highlighting clinical, radiological, and histological correlations. Particular emphasis is placed on differential diagnosis, which often needs to take into account nontumoral conditions. The recent identification of further significant biological and genetic features, and the impact of these discoveries on the classification of round cell tumors, vascular lesions, and spindle/pleomorphic entities in bone, is also extensively discussed. The Rizzoli case archive dates back to September 1900 and contains the original material relating to more than 29,000 bone lesions and 11,000 soft tissue lesions. It is a fabulously rich resource, and this book will be invaluable for pathologists, radiologists, and clinicians at all levels of experience.
Download or read book Genetics of Bone Biology and Skeletal Disease written by Rajesh V. Thakker and published by Academic Press. This book was released on 2017-10-31 with total page 878 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genetics of Bone Biology and Skeletal Disease, Second Edition, is aimed at students of bone biology and genetics and includes general introductory chapters on bone biology and genetics. More specific disease orientated chapters comprehensively summarize the clinical, genetic, molecular, animal model, molecular pathology, diagnostic, counseling, and treatment aspects of each disorder. The book is organized into five sections that each emphasize a particular theme, general background to bone biology, general background to genetics and epigenetics, disorders of bone and joint, parathyroid and related disorders, and vitamin D and renal disorders. The first section is specifically devoted to providing an overview of bone biology and structure, joint and cartilage biology, principles of endocrine regulation of bone, and the role of neuronal regulation and energy homeostasis. The second section reviews the principles and progress of medical genetics and epigenetics related to bone disease, including genome-wide association studies (GWAS), genomic profiling, copy number variation, prospects of gene therapy, pharmacogenomics, genetic testing and counseling, as well as the generation and utilizing of mouse models. The third section details advances in the genetics and molecular biology of bone and joint diseases, both monogenic and polygenic, as well as skeletal dysplasias, and rarer bone disorders. The fourth section highlights the central role of the parathyroids in calcium and skeletal homeostasis by reviewing the molecular genetics of: hyperparathyroidism, hypoparathyrodism, endocrine neoplasias, and disorders of the PTH and calcium-sensing receptors. The fifth section details molecular and cellular advances across associated renal disorders such as vitamin D and rickets. Identifies and analyzes the genetic basis of bone disorders in humans and demonstrates the utility of mouse models in furthering the knowledge of mechanisms and evaluation of treatments Demonstrates how the interactions between bone and joint biology, physiology, and genetics have greatly enhanced the understanding of normal bone function as well as the molecular pathogenesis of metabolic bone disorders Summarizes the clinical, genetic, molecular, animal model, molecular pathology, diagnostic, counseling, and treatment aspects of each disorder
Download or read book Neurofibromatosis written by Vincent M. Riccardi and published by . This book was released on 1992 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Neurofibromatosis written by Bruce R. Korf and published by Thieme. This book was released on 2011-01-01 with total page 268 pages. Available in PDF, EPUB and Kindle. Book excerpt: Here is the state-of-the-art on recognizing, managing and living with neurofibromatosis (NF) for patients, families, and health care professionals. From new genetic and diagnostic advances, to associated cardiovascular and endocrine abnormalities, to the significant psychosocial impact of NF, the book is packed with clear, practical guidance for understanding and living with this disability.Special features: A complete diagnostic guide to help you recognize NF-related symptoms--with a timeline for when they might appear New treatment options for NF, including pain control Coverage of the newly discovered form of NF, schwannomatosis Personal perspectives from NF patients and their families Glossary that defines medical terminology With the great diagnostic and treatment advances achieved in the last decade, and research proceeding rapidly, the future for patients with NF has never been brighter. For all individuals living with the challenges of this disability, the book brings you to the forefront of medical knowledge. Make sure it is within close reach for fast and easy reference.
Download or read book Neurofibromatosis Type 1 in Childhood written by Kathryn North and published by Cambridge University Press. This book was released on 1997-01-30 with total page 146 pages. Available in PDF, EPUB and Kindle. Book excerpt: A thoughtful and clinically valuable account which will aid both treatment of and research into this difficult disorder.
Download or read book Neurology in Clinical Practice written by Walter George Bradley and published by . This book was released on 2004 with total page 1672 pages. Available in PDF, EPUB and Kindle. Book excerpt: New edition, completely rewritten, with new chapters on endovascular surgery and mitochrondrial and ion channel disorders.
Download or read book Neurofibromatosis Type 1 written by Allen Jeffrey Karajannis Matthias a and published by . This book was released on 2013-01-01 with total page 212 pages. Available in PDF, EPUB and Kindle. Book excerpt: Neurofibromatosis Type 1 (NF1) is a relatively common genetic disorder that predisposes affected individuals for developing multiple tumors, predominantly neurofibromas. NF1 is caused by a loss of the tumor suppressor protein neurofibromin, which was discovered over 20 years ago. NF1 patients develop a wide spectrum of benign tumors, including in the skin, deep soft tissues and brain, as well as malignant tumors including malignant peripheral nerve sheath tumors, malignant gliomas and acute myeloblastic leukemia. NF1 patients are also at risk for a spectrum of orthopedic and neurological disorders, including bone abnormalities and speech and learning disorders. This book, edited by Matthias Karajannis, MD, MS and Jeffrey Allen, MD, who direct the Comprehensive NF Center at NYU Langone Medical Center in New York, represents a valuable resource for both scientists and clinicians involved in NF1 research and patient care. Each chapter is written by expert authors in the field and addresses one or several specific topics in NF1 with a focus on disease biology, genetics, diagnostics and/or clinical management. The latest scientific advances in the field of NF1 are discussed, along with practical management recommendations and an outlook on future avenues of NF1 research.
Download or read book Atlas of Inherited Retinal Diseases written by Stephen H. Tsang and published by Springer. This book was released on 2018-12-21 with total page 274 pages. Available in PDF, EPUB and Kindle. Book excerpt: This Atlas of Inherited Retinal Disorders provides a thorough overview of various inherited retinal dystrophies with emphasis on phenotype characteristics and how they relate to the most frequently encountered genes. It also meets the previously unmet needs of PhD students who will benefit from seeing the phenotypes of genes they work on and study. Further, because genetic-testing costs are quite high and spiraling higher, this Atlas will help geneticists familiarize themselves with the candidate gene approach to test patients’ genomes, enabling more cost-efficient testing. This invaluable atlas is organized into eight sections starting with an introduction to the basic knowledge on retinal imaging, followed by diseases listed according to inheritance pattern and disorders with extraocular manifestations grouped by defining features. This structure will be intuitive to clinicians and students studying inherited retinal disorders.
Download or read book Diagnosis Management and Modeling of Neurodevelopmental Disorders written by Colin R. Martin and published by Academic Press. This book was released on 2021-05-29 with total page 624 pages. Available in PDF, EPUB and Kindle. Book excerpt: Diagnosis, Management and Modeling of Neurodevelopmental Disorders: The Neuroscience of Development is a comprehensive reference on the diagnosis and management of neurodevelopment and associated disorders. The book discusses the mechanisms underlying neurological development and provides readers with a detailed introduction to the neural connections and complexities in biological circuitries, as well as the interactions between genetics, epigenetics and other micro-environmental processes. In addition, the book also examines the pharmacological and non-pharmacological interventions of development-related conditions. Provides the most comprehensive coverage of the broad range of topics relating to the neuroscience of aging Features sections on the genetics that influences aging and diseases of aging Contains an abstract, key facts, a mini dictionary of terms, and summary points in each chapter Focuses on neurological diseases and conditions linked to aging, environmental factors and clinical recommendations Includes more than 500 illustrations and tables
Download or read book Atlas of Pediatric Brain Tumors written by Adekunle M. Adesina and published by Springer. This book was released on 2016-10-03 with total page 349 pages. Available in PDF, EPUB and Kindle. Book excerpt: This text was created to fill a void in the practice of pediatric neuropathology. It is a practical and well-illustrated book representing a collection of interesting, common and unusual tumors for a diagnostic exercise by the reader. The wide reception of the first edition by the pathology community is testament to its relevance and utility in the pathologic diagnosis of pediatric brain tumors. This edition covers topics ranging from neuroimaging, the use of crush and touch preps during intraoperative consultation, classic histological features of pediatric brain tumors, tumor variants, and a miscellaneous group of challenging tumors. Chapters consist of essential diagnostic information and features highlighting recognized variants and their differential diagnoses. A section on molecular pathology and electron microscopy is also included for each tumor category, along with a list of classic reviews and innovative articles on each of the tumor entities as suggested reading at the end of each chapter. Atlas of Pediatric Brain Tumors, Second Edition represents the state of the art in pediatric neuropathology with easy utility beside the microscope.
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.
