Clinical And Basic Aspects Of Neurofibromatosis Type 1
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Clinical And Basic Aspects Of Neurofibromatosis Type 1
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Author : Juichiro Nakayama
language : en
Publisher: BoD – Books on Demand
Release Date : 2022-02-23
Clinical And Basic Aspects Of Neurofibromatosis Type 1 written by Juichiro Nakayama and has been published by BoD – Books on Demand this book supported file pdf, txt, epub, kindle and other format this book has been release on 2022-02-23 with Medical categories.
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.
Multidisciplinary Approach To Neurofibromatosis Type 1
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Author : Gianluca Tadini
language : en
Publisher: Springer Nature
Release Date : 2020-06-02
Multidisciplinary Approach To Neurofibromatosis Type 1 written by Gianluca Tadini and has been published by Springer Nature this book supported file pdf, txt, epub, kindle and other format this book has been release on 2020-06-02 with Medical categories.
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.
Neurofibromatosis Type 1
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Author : Meena Upadhyaya
language : zh-TW
Publisher: Springer Science & Business Media
Release Date : 2013-01-29
Neurofibromatosis Type 1 written by Meena Upadhyaya and has been published by Springer Science & Business Media this book supported file pdf, txt, epub, kindle and other format this book has been release on 2013-01-29 with Medical categories.
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.
The Neurofibromatoses
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Author :
language : en
Publisher:
Release Date : 1995
The Neurofibromatoses written by and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 1995 with Genetic disorders categories.
Neurofibromatosis Type 1
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Author : Eric Legius
language : en
Publisher:
Release Date : 1994
Neurofibromatosis Type 1 written by Eric Legius and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 1994 with categories.
The Molecular Biology Of Neurofibromatosis Type 1
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Author : Meena Upadhyaya
language : en
Publisher: Biota Publishing
Release Date : 2014-02-01
The Molecular Biology Of Neurofibromatosis Type 1 written by Meena Upadhyaya and has been published by Biota Publishing this book supported file pdf, txt, epub, kindle and other format this book has been release on 2014-02-01 with Science categories.
Neurofibromatosis type 1 (NF1) is a common autosomal dominantly inherited, tumour predisposition syndrome affecting 1/3,000-4,000 individuals worldwide. This inherited disorder results from the mutational inactivation of the NF1 gene on human chromosome 17. The NF1 gene contains 61 exons that give rise to 12kb mRNA encoding neurofibromin. The 327kDa (2,818 amino acid) neurofibromin protein is expressed in most tissues and has a number of alternative isoforms. Neurofibromin is a tumour suppressor protein and down-regulates cellular Ras. Increased active Ras-GTP levels also stimulate the important PI3K/AKT/mTOR signalling pathway that protects cells from apoptosis. The major clinical featues of NF1 include multiple café-au-lait macules, skinfold freckles, iris Lisch nodules, and neurofibromas. The diagnostic criteria for clinical diagnosis have been well established. However, there are a small number of cases in which the diagnosis is not certain. The germline mutation rate for the NF1 gene is 10-fold higher than that observed for most other inherited diseases. Using a combination of different techniques, almost 95% of germline mutations can be detected. To date, only two firm genotype phenotype correlations have been reported. NF1 phenotype exhibits large variations within a family, evidence for modifying loci regulating the expression of an NF1 gene is beginning to emerge. We also are gaining knowledge on the molecular mechanisms associated with the development of different types of tumours. It is encouraging that the results of recent laboratory and clinical research are finally being translated into clinical trials. With the availability of high-throughput technologies, sophisticated animal models, and multi-centre clinical trials, the future for NF1 sufferers is looking optimistic. This book aims to provide an overview of the genetic and clinical aspects of NF1 and its role in both NF1-associated and sporadic tumour development. It emphasizes the recent developments in this field and some of the promising on-going clinical trials.
Recent Advances In Bone Tumours And Osteoarthritis
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Author : Hiran Amarasekera
language : en
Publisher: BoD – Books on Demand
Release Date : 2021-09-01
Recent Advances In Bone Tumours And Osteoarthritis written by Hiran Amarasekera and has been published by BoD – Books on Demand this book supported file pdf, txt, epub, kindle and other format this book has been release on 2021-09-01 with Medical categories.
This book is a combination of recent advances in two major areas of orthopaedics: Bone tumours and Osteoarthritis. All chapters are contributed by well-known researchers and surgeons in Orthopaedics working across the globe. The book is divided into two major parts for clarity. All authors have contributed their original research, their experience in the field, and the recent advances that will keep the reader well informed and up to date in our understanding of bone tumours and osteoarthritis. This is a “must have” reference book for any medical library or an individual who is keen to update and have CME (continuous medical education) points added to their learning.
Neurofibromatosis Type 1
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Author : Allen Jeffrey Karajannis Matthias a
language : en
Publisher:
Release Date : 2013-01-01
Neurofibromatosis Type 1 written by Allen Jeffrey Karajannis Matthias a and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2013-01-01 with Medical categories.
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.
Neurofibromatosis
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Author : Bruce R. Korf
language : en
Publisher: Thieme
Release Date : 2011-01-01
Neurofibromatosis written by Bruce R. Korf and has been published by Thieme this book supported file pdf, txt, epub, kindle and other format this book has been release on 2011-01-01 with Medical categories.
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.
Cohort Studies In Health Sciences
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Author : René Mauricio Barría
language : en
Publisher:
Release Date : 2018-09
Cohort Studies In Health Sciences written by René Mauricio Barría and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2018-09 with Cohort analysis categories.