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Ataxia Telangiectasia
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Book Synopsis Genetic Neuromuscular Disorders by : Corrado Angelini
Download or read book Genetic Neuromuscular Disorders written by Corrado Angelini and published by Springer. This book was released on 2017-10-05 with total page 392 pages. Available in PDF, EPUB and Kindle. Book excerpt: This updated and expanded new edition of a successful book describes genetic diagnostic entities of neuromuscular disorders. Neuromuscular syndromes are presented clinically either as a case study or as an overview from the literature, accompanied by text presenting molecular defects, and differential diagnosis. This collection of neuromuscular disorders features the differential clinical phenotypes related to each genotype and are representative of the whole spectrum of a genetic muscle disorder, helping the clinician and neuromuscular physician to make a diagnosis. Key points for each genetic disease are identified to suggest treatment, when available, or the main clinical exams useful in follow-up of patients. Genetic Neuromuscular Disorders: A Case-Based Approach is aimed at neuromuscular physicians and neurology residents.
Book Synopsis DNA Repair Disorders by : Chikako Nishigori
Download or read book DNA Repair Disorders written by Chikako Nishigori and published by Springer. This book was released on 2018-12-31 with total page 221 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book focuses on the clinical aspects of DNA repair disorders. Nucleotide excision repair is an important pathway for humans, as it is involved in biologically fundamental functions. This work presents clinical features together with the pathogenesis of DNA repair disorders such as Xertoderma Pigmentosum (XP). Studies on animal models are included as well. Clinical feature characteristics of each clinical subtype of XP are depicted according to the genotype, giving accurate and detailed information about the clinical features in terms of gene alterations, change of protein structure, and dysfunction in some of the repair pathways. This book is unique in that it provides detailed information on clinical features from more than 100 patients with XP-A, which is characterized by very severe manifestation of skin photosensitivity and neurological dysfunction. It will give readers important knowledge for understanding the concept and molecular mechanisms of DNA repair disorders. It also describes how to treat and care for patients with XP based on vast experience in clinical practice. DNA Repair Disorders will be a useful resource not only for physicians and basic scientists who are interested in and/or take care of patients with DNA repair disorders, but also dermatologists, neurologists, and researchers in the field of radiation biology and photobiology.
Book Synopsis Ataxia-Telangiectasia by : Richard A. Gatti
Download or read book Ataxia-Telangiectasia written by Richard A. Gatti and published by Springer Science & Business Media. This book was released on 2013-06-29 with total page 291 pages. Available in PDF, EPUB and Kindle. Book excerpt: Ataxia-telangiectasia or A-T is a fatal progressive neurological disease of children. The symptoms indicate disruptions in the development of such diverse body parts as cerebellum, thymus and chromosomes. The patients are unduly sensitive to ionizing radiation, immunodeficient, and a third of them develops cancer. All of this stems from defects of a single gene. Provided here is an up-to-date review of all important work in thefield. A wide spectrum of topics is covered, namely genetics, chromosome 11 mapping, radiobiology, complementation, heterozygote identification, clinical variants, biochemistry, and treatment of A-T.
Book Synopsis Handbook of Ataxia Disorders by : Thomas Klockgether
Download or read book Handbook of Ataxia Disorders written by Thomas Klockgether and published by CRC Press. This book was released on 2000-08-18 with total page 716 pages. Available in PDF, EPUB and Kindle. Book excerpt: This timely reference presents, for the first time, new findings in molecular genetics that are applicable to the epidemiology, pathogenesis, neuropathology, clinical features, and management of ataxia-bridging the gap between scientific and clinical practice. Organized by the distinctive ataxia disorders, their pathogenesis, and management-facilitating quick and efficient diagnoses! Providing complementary sections on the anatomy of the spinocerebellar system, its normal function, and a history of ataxia research and management, the Handbook of Ataxia Disorders clarifies the impact of identifying the molecular causes of ataxia offers in-depth analysis of dominant and recessive and nonhereditary ataxia disorders explores the vital connection between the genotypes and phenotypes of various degenerative ataxia disorders and more! Written by more than 60 international experts and supplemented with over 2600 literature references, photographs, micrographs, drawings, and tables, the Handbook of Ataxia Disorders is an essential and useful reference for clinical neurologists and neuropathologists, neuropediatricians, geneticists, physiatrists, and medical school students in these disciplines.
Book Synopsis Genetics of Movement Disorders by : Stefan M. Pulst
Download or read book Genetics of Movement Disorders written by Stefan M. Pulst and published by Elsevier. This book was released on 2002-10-25 with total page 585 pages. Available in PDF, EPUB and Kindle. Book excerpt: Hereditary or genetic diseases featuring involuntary movements constitute a major aspect of the practice of neurology, functional neurosurgery, genetics, and many areas of basic and applied neuroscience research. Describing the current knowledge on these disorders, Genetics of Movement Disorders brings together information essential for clinicians, geneticists, and neuroscientists in one source. Utilizing a convenient and accessible format, the book is designed to allow easy identification of relevant information, with the overall organization of topics following established phenotypic classifications of movement disorders such as Parkinsonian syndromes, chorea, ataxia, and major categories of diseases grouped by gene locus. This book broadly appeals to neurologists, neuroscientists, geneticists, as well as cell and molecular biologists and hematologists. Consistently formatted to present a clinical description of the disorder, followed by an in-depth analysis of the mutation and function of the mutated gene including cellular and animal models Emphasizes the use of DNA tests for each respective disorder Provides up-to-date, easily accessible information for clinicians, geneticists, and neuroscientists
Book Synopsis Cerebellar Disorders by : Mario Ubaldo Manto
Download or read book Cerebellar Disorders written by Mario Ubaldo Manto and published by Cambridge University Press. This book was released on 2010-03-25 with total page 313 pages. Available in PDF, EPUB and Kindle. Book excerpt: During the last three decades, many laboratories worldwide have dedicated their research activities to understanding the roles of the cerebellum in motor control, cognitive processes and the biology of mental processes, behavioral symptoms and emotion. These advances have been associated with discoveries of new clinical disorders, in particular in the field of genetic ataxias, and the growing number of diseases presents a source of difficulty for clinicians during daily practice. This practical guide summarizes and evaluates current knowledge in the field of cerebellar disorders. Encompassing details of both common and uncommon cerebellar ataxias, including vascular, immune, neoplastic, infectious, traumatic, toxic and inherited disorders, this book will assist clinicians in the diagnosis and management of the full spectrum of cerebellar ataxias encountered in daily practice. Essential reading for clinicians, including general practitioners, neurologists, pediatricians, radiologists, psychiatrists and neuropsychologists, this will also prove a valuable tool for students, trainees and researchers.
Book Synopsis Ataxia Telangiectasia by : B. A. Bridges
Download or read book Ataxia Telangiectasia written by B. A. Bridges and published by John Wiley & Sons. This book was released on 1982 with total page 432 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Book Synopsis Primary Immunodeficiency Disorders by : Amos Etzioni
Download or read book Primary Immunodeficiency Disorders written by Amos Etzioni and published by Academic Press. This book was released on 2014-09-13 with total page 377 pages. Available in PDF, EPUB and Kindle. Book excerpt: Primary Immunodeficiency Disorders: A Historic and Scientific Perspective provides a complete historical context that is crucial for students and researchers concerned with primary immunodeficiency. When researchers have a poor understanding of the way we arrived where we are in research, they can miss important points about a disease, or miss out on how to approach new diseases. This historical knowledge of research can assist greatly by showing how it was done in the past, demonstrating the successes and failures, so that it can be done better in the future. This book provides an understanding of the process going from clinical problem to lab and back to the clinic, based on historical experiences. Its chapters proceed from the discovery of the T and B cell lineages through the first BMT for immunodeficiency disorder; lab investigation and gene therapy for PID; the discovery of the gene for AT and its function; understanding cytokine defects; and many other stops along the way. Facilitates communication among physicians and other investigators concerned with immunological and inflammatory diseases Summarizes for the first time all the known facts from 60 years of primary immunodeficiency research, and teaches how an important field in medicine was established Provides stimulating discussions on developing new medical therapiesHighlights the importance of studying humans to understand mechanisms of disease that affect humans
Book Synopsis Handbook of Tumor Syndromes by : Dongyou Liu
Download or read book Handbook of Tumor Syndromes written by Dongyou Liu and published by CRC Press. This book was released on 2020-05-08 with total page 1446 pages. Available in PDF, EPUB and Kindle. Book excerpt: Tumors/cancers are characterized by uncontrolled growths of abnormal cells that extend beyond their usual boundaries and disrupt the normal functions of affected organs and systems. While about 75%–80% of tumors/cancers arise sporadically without a family connection, 20%–25% appear to be familial (including 10%–15% nonhereditary familial tumors [or familial tumors] and 5%–10% hereditary familial tumors [or hereditary tumors]). As nonhereditary and hereditary familial tumors often show both tumor-related and non-tumor-related (or syndromic) symptoms, they are referred to as tumor syndromes (or cancer susceptibility syndromes). In comparison with sporadic tumors/cancers, tumor syndromes (>300 described so far) tend to occur at a younger age, involve multiple organs and systems, produce multiple (often in a distinct spectrum) and bilateral lesions, form multiple hamartomatous, benign, or precursor lesions; locate in specific site(s), display unique syndromic features, and affect multiple members/generations of a family. This book provides state-of-art and authoritative coverage of nearly 100 tumor syndromes, with chapters presenting overviews of individual tumor syndromes in relation to their biology, epidemiology, pathogenesis, clinical features, diagnosis, treatment, and prognosis. Featuring contributions from oncologists, clinicians, and specialists, the book offers a reliable, comprehensive reference on tumor syndromes for scholars and students of medicine, dentistry, pharmacology, nursing, public health, and other biomedical disciplines. Key Features Reviews the biology, epidemiology, pathogenesis, and clinical features of tumor syndromes Contains up-to-date information on the diagnosis and treatment of tumor syndromes Includes expert coverage from leading oncologists and clinicians Related Titles J. R. McIntosh, Understanding Cancer: An Introduction to the Biology, Medicine, and Societal Implications of This Disease (ISBN 978-0-8153-4535-0) P. S. T. Shanmugam, Understanding Cancer Therapies (ISBN 978-1-1381-9815-9) J. M. Baehring and J. M. Piepmeier, eds., Brain Tumors: Practical Guide to Diagnosis and Treatment (ISBN 978-0-3673-9022-8) D. Liu, Tumors and Cancers: Endocrine Glands – Blood – Marrow – Lymph (ISBN 978-1-4987-2975-8) Dongyou Liu, PhD, has worked at several research and clinical laboratories in Australia and the United States for the past three decades, with a focus on molecular characterization of microbial pathogens and detection of human genetic disorders and tumors/cancers. He is the primary author of more than 50 original research and review articles in various peer-reviewed international journals, the contributor of 197 book chapters, and the editor of more than 10 books.
Book Synopsis Molecular Mechanisms of Ataxia Telangiectasia by : Shamim I. Ahmad
Download or read book Molecular Mechanisms of Ataxia Telangiectasia written by Shamim I. Ahmad and published by CRC Press. This book was released on 2009-06-11 with total page 132 pages. Available in PDF, EPUB and Kindle. Book excerpt: Ataxia telangiectasia (AT) is an incurable, rare autosomal recessive genetic disorder which affects approximately one in 40,000-100,000 and the carrier frequency is estimated to be 1:100-200. In the United Kingdom it affects 1 in 300,000 live births amounting to about 5 or 6 cases per year. Although the medial survival rate of affected persons is b
Book Synopsis Weedon's Skin Pathology E-Book by : James W. Patterson
Download or read book Weedon's Skin Pathology E-Book written by James W. Patterson and published by Elsevier Health Sciences. This book was released on 2019-11-19 with total page 1896 pages. Available in PDF, EPUB and Kindle. Book excerpt: Encyclopedic and authoritative, Weedon’s Skin Pathology has earned outstanding reviews and accolades from practicing and trainee dermatopathologists, general pathologists, and dermatologists worldwide. The 5th Edition continues the tradition of excellence, helping you accurately and efficiently sign out challenging skin cases in everyday practice, while also keeping you up to date with recent advances in the field. This single-authored text provides comprehensive coverage of the full spectrum of dermatopathological entities, both inflammatory and neoplastic, highlighted by more than 1,200 large-sized, high-quality illustrations. Helps you arrive at the most accurate diagnoses possible by demonstrating what is seen through the microscope and identifying the characteristic features of the lesion – for established disorders, unusual and rare disease entities, and incompletely defined entities. Includes updated and expanded information on molecular diagnostics, including FISH (fluorescence in situ hybridization) techniques, plus new developments in molecular biology and molecular techniques, targeted-personalized medicine, and immunohistochemistry. Brings you fully up to date with carefully reviewed and streamlined introductory and basic science information and information on new entities since the previous edition. Presents even more key information in quick-reference formats such as tables and boxes that organize diseases into groups, synthesize diagnostic criteria, and list differential diagnoses. Identifies both important articles and more rare and unusual reports with remarkably authoritative, comprehensive, current, and relevant reference lists (over 35,000) for each entity. Enhanced eBook version included with purchase. Your enhanced eBook allows you to access all of the text, figures, and references from the book on a variety of devices.
Author :National Organization for Rare Disorders Publisher :Lippincott Williams & Wilkins ISBN 13 :9780781730631 Total Pages :982 pages Book Rating :4.7/5 (36 download)
Book Synopsis NORD Guide to Rare Disorders by : National Organization for Rare Disorders
Download or read book NORD Guide to Rare Disorders written by National Organization for Rare Disorders and published by Lippincott Williams & Wilkins. This book was released on 2003 with total page 982 pages. Available in PDF, EPUB and Kindle. Book excerpt: NORD Guide to Rare Disorders is a comprehensive, practical, authoritative guide to the diagnosis and management of more than 800 rare diseases. The diseases are discussed in a uniform, easy-to-follow format--a brief description, signs and symptoms, etiology, related disorders, epidemiology, standard treatment, investigational treatment, resources, and references.The book includes a complete directory of orphan drugs, a full-color atlas of visual diagnostic signs, and a Master Resource List of support groups and helpful organizations. An index of symptoms and key words offers physicians valuable assistance in finding the information they need quickly.
Book Synopsis Neurocutaneous Disorders by : Christos P. Panteliadis
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.
Book Synopsis Targeting Cell Survival Pathways to Enhance Response to Chemotherapy by :
Download or read book Targeting Cell Survival Pathways to Enhance Response to Chemotherapy written by and published by Academic Press. This book was released on 2018-03-28 with total page 310 pages. Available in PDF, EPUB and Kindle. Book excerpt: Targeting Cell Survival Pathways to Enhance Response to Chemotherapy encompasses recently developed molecular targeting agents and approaches that suppress cell survival signaling. Cell survival signaling attenuates the effectiveness of conventional chemotherapy and numerous mechanisms have been described, and continue to be described, which contribute to cell survival in the face of chemotherapy treatment. Key pathways leading to chemoresistance emanate from growth factor receptors, PI3K, STAT3, anti-apoptotic Bcl-2 family members, autophagy, and the DNA damage response pathway. New advances have underscored the potential of targeting each of these cell survival mechanisms to improve responsiveness to chemotherapy. This book reviews these recent advances and provides a foundational background and hints of new opportunities for basic, translational, and clinical investigators focused on improving therapeutic responses to chemotherapy. Presents cutting-edge agents and approaches with proved success in different model systems that can be translated to a different type of cancer Brings updated information to be used to propose new clinical trials investigating innovative strategies for improving responses to chemotherapy Provides mechanistic details to help guide the design of laboratory studies associated with clinical trials
Book Synopsis Ataxia Telangiectasia: New Insights for the Healthcare Professional: 2011 Edition by :
Download or read book Ataxia Telangiectasia: New Insights for the Healthcare Professional: 2011 Edition written by and published by ScholarlyEditions. This book was released on 2012-01-09 with total page 64 pages. Available in PDF, EPUB and Kindle. Book excerpt: Ataxia Telangiectasia: New Insights for the Healthcare Professional: 2011 Edition is a ScholarlyBrief™ that delivers timely, authoritative, comprehensive, and specialized information about Ataxia Telangiectasia in a concise format. The editors have built Ataxia Telangiectasia: New Insights for the Healthcare Professional: 2011 Edition on the vast information databases of ScholarlyNews.™ You can expect the information about Ataxia Telangiectasia 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 Ataxia Telangiectasia: 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/.
Book Synopsis Syndromes: Rapid Recognition and Perioperative Implications by : Bruno Bissonnette
Download or read book Syndromes: Rapid Recognition and Perioperative Implications written by Bruno Bissonnette and published by McGraw-Hill Education / Medical. This book was released on 2006-08-10 with total page 988 pages. Available in PDF, EPUB and Kindle. Book excerpt: Essential medical facts on over 2,000 genetic syndromes. Organized alphabetically, this book provides comprehensive medical coverage for each syndrome, from genetic basis to manifestations to related medical considerations.
Download or read book Hope Will Find You written by Naomi Levy and published by Harmony. This book was released on 2010 with total page 258 pages. Available in PDF, EPUB and Kindle. Book excerpt: In this moving, personal work, Levy tells of the painful circumstances she endured with her young daughter's illness, how they grew together, and ultimately how much Levy learned from her daughter's example.
