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Neurofibromatosis
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.
Multidisciplinary Approach to Neurofibromatosis Type 1
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 crite...
Neurofibromatosis Type 1 in Childhood
A thoughtful and clinically valuable account which will aid both treatment of and research into this difficult disorder.
Neurofibromatosis Type 1
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 Molecular Biology of Neurofibromatosis Type 1
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 o...
Neurofibromatosis Type 1
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 ...
Neurofibromatosis Type 1: New Insights for the Healthcare Professional: 2011 Edition
Neurofibromatosis Type 1: New Insights for the Healthcare Professional: 2011 Edition is a ScholarlyPaper™ that delivers timely, authoritative, and intensively focused information about Neurofibromatosis Type 1 in a compact format. The editors have built Neurofibromatosis Type 1: New Insights for the Healthcare Professional: 2011 Edition on the vast information databases of ScholarlyNews.™ You can expect the information about Neurofibromatosis Type 1 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 Neurofibromatosis Type 1: New Insights for the Healthcare Professional: 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/.
I'm Not Sick, Just A Bit Unwell
At the age of sixteen, Yvonne Foong was diagnosed with neurofibromatosis, an illness that leaves patients to live in silence, isolated from a world that so many of us take for granted. As she enters the gloomy life of hospital wards, relationships and friendships are put to test. If you ever wondered what it is like to cope with an incurable illness and to constantly receive news that crushes the human spirit, Yvonne's story is a story o resilience and hope. Her efforts saw her being crowned Most Outstanding Youth of 2005 and the winner of the Dream Malaysia Award in the same year. Emotional, stark and honest, "I'm Not Sick, Just a Bit Unwell" not only sheds light on the dreadful effects of neurofibromatosis, it also takes you on a journey to understand the struggles all challenged Malaysians face. It is an inspiration to anyone who has ever wanted to realise the power of faith and hope.
Neurofibromatosis Type 1
This monograph includes five chapters about neurofibromatosis type 1 (NF1), a condition characterised by changes in skin colouring and the growth of tumours along nerves in the skin, brain, and other parts of the body. Chapter One concerns the evolving molecular biology, targeted therapeutics, and neurocognitive deficits in neurofibromatosis type one. Chapter Two focuses on gastrointestinal stromal tumours and reviews the clinicopathologic features of these tumours and discusses differential diagnostic considerations. Chapter Three explores juvenile myelomonocytic leukaemia, a rare haematological malignancy of the paediatric population, and its association with NF1 and distinguishing features in this context. Chapter Four reviews molecular approaches for the diagnosis of NF1, from single-gene testing to next-generation sequencing of gene panels, with a focus on the issues of sensitivity and variant interpretations. Finally, Chapter Five focuses attention on focal cortical dysplasia that has been identified in the population of NF1 patients that have had coexistent hippocampal sclerosis.
Advances in Neurofibromatosis Research
This is a practical and objective book that provides an updated and comprehensive overview, offering insight into the research advances in neurofibromatosis. This book represents a reference source for researchers, healthcare professionals from various fields, as well as students, about different aspects of neurofibromatosis. In addition, this book useful guidance to researchers and health professionals seeking to contribute to longevity and improved quality of life for patients and their families.
