This book, written by very well known opinion leaders in the field, covers all aspects of familial Mediterranean fever, the most common monogenic autoinflammatory disease. The opening chapters explain the genetic basis of the disease and provide insights into the pathogenesis derived from recent experimental studies. A large part of the book is then devoted to a detailed description of the typical and atypical clinical presentations, the disease course, and potential complications in both pediatric and adult patients. Guidance is provided on the measurement of disease severity and the management of patients in daily practice. The advice regarding treatment is based on the best currently available evidence and attention is also paid to important emerging treatments. The book is part of Springer’s series Rare Diseases of the Immune System, which presents recently acquired knowledge on pathogenesis, diagnosis, and therapy with the aim of promoting a more holistic approach to these conditions. Monogenic autoinflammatory diseases are hereditary disorders that are caused by single-gene defects in innate immune regulatory pathways and are characterized by a clinical and biological inflammatory syndrome in which there is limited, if any, evidence of autoimmunity. Familial Mediterranean fever itself is due to a mutation in the MEFV gene, which codes for the protein pyrin; it is characterized by periodic fever and episodes of painful inflammation in the abdomen, chest, and joints. Familial Mediterranean Fever will be an invaluable source of up-to-date information for all practitioners involved in the care of patients with the disease.
|Release Date||: 2012-01-09|
|ISBN 10||: 1464913285|
|Pages||: 21 pages|
Familial Mediterranean Fever: New Insights for the Healthcare Professional: 2011 Edition is a ScholarlyPaper™ that delivers timely, authoritative, and intensively focused information about Familial Mediterranean Fever in a compact format. The editors have built Familial Mediterranean Fever: New Insights for the Healthcare Professional: 2011 Edition on the vast information databases of ScholarlyNews.™ You can expect the information about Familial Mediterranean Fever 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 Familial Mediterranean Fever: 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/.
|Release Date||: 2012-12-10|
|ISBN 10||: 1464978921|
|Pages||: 29 pages|
Familial Mediterranean Fever: New Insights for the Healthcare Professional / 2012 Edition is a ScholarlyPaper™ that delivers timely, authoritative, and intensively focused information about Familial Mediterranean Fever in a compact format. The editors have built Familial Mediterranean Fever: New Insights for the Healthcare Professional / 2012 Edition on the vast information databases of ScholarlyNews.™ You can expect the information about Familial Mediterranean Fever 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 Familial Mediterranean Fever: New Insights for the Healthcare Professional / 2012 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/.
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.
This book, the first complete textbook on this novel field in Medicine, comprehensively covers the clinical presentation, pathogenesis, genetics, and latest management strategies for autoinflammatory disorders as well as the basic science of autoinflammation. Relevant concepts such as how translational science of genetics and immunology relates to the innate immune system and autoinflammation are covered. Descriptions of the monogenic and polygenic/complex diseases that fall under the umbrella of autoinflammatory diseases are provided. Further topics covered include the latest clinical and genetic diagnostic approaches, concepts on the relationship between autoinflammation and autoimmunity/immunodeficiency, the role of autoinflammation in cancer, treatments and management strategies for these diseases, and potential areas of future development. The Textbook of Autoinflammation systematically describes and reviews diagnostic and treatment options for autoinflammatory disorders as well as all aspects of the concept of autoinflammation, and represents a valuable resource for professionals in a variety of disciplines who encounter these patients or who study autoinflammation.
|Author||: Udi Nussinovitch|
|Publisher||: Academic Press|
|Release Date||: 2017-02-10|
|ISBN 10||: 0128032685|
|Pages||: 766 pages|
The prevalence of autoimmune diseases and rheumatic conditions is constantly increasing. Autoimmune diseases affect approximately 7-10% of the population of the United States, while more than 50,000,000 American adults suffer from some type of arthritis. The Heart in Rheumatic, Autoimmune and Inflammatory Diseases examines the complex mechanisms relating to cardiac diseases from a pathophysiological and clinical point of view. Autoimmune rheumatic diseases can affect the coronary vessels, myocardium, pericardium, heart valves and the conduction system. The diagnosis of these unique cardiac complications necessitates medical awareness and a high index of suspicion. Increased risk of advanced atherosclerosis plays a pivotal role in the development of cardiac diseases in systemic, rheumatic and autoimmune illnesses. Yet, other complex immune medicated mechanisms may contribute to the pathogenesis. Patients' optimal care requires coordination between the primary caregiver, the rheumatologist, immunologist and cardiologist. Screening for cardiovascular risk factors, recognition of high-risk patients and identification of subclinical cardiac conditions are of great importance. Moreover, regulation of inflammation, as well as abnormal immune responses and the initiation of early treatments should be the focus of patient management. A continuous attempt to identify novel therapeutic targets and change the natural history of the underlying disease and its cardiac manifestations is in progress. The book aims at providing the readers with a state of the art collection of up to date information regarding clinically important topics based on experts' perspectives. This book was a result of an extended coordinated collaboration of one-hundred and fifty-four distinguished scientists from thirty-one countries around the globe. A review of common, as well as unusual (yet clinically significant) medical cardiac complications of prevalent rheumatic, autoimmune and inflammatory diseases. Focuses on aspects of pathophysiological processes, clinical presentations, screening tests, prognostic implications and novel therapeutic approaches. Presents an up-to-date “level of evidence and “strengths of recommendations for suggested therapies and reviews all randomized clinical trials, meta-analyses and other supporting published clinical findings.
This book provides an overview of auto-inflammatory syndromes, covering the underlying immune mechanisms that lead to their development, specific disease presentations, and clinical treatment guidelines. The book is divided into two sections, adult and pediatric, with chapters focusing on individuals diseases such as systemic arthritis, hyper-IgD, pap syndrome, idiopathic recurrent pericarditis, and familial Mediterranean fever. Chapters incorporate the most recent advances in disease pathophysiology and examine the underlying inductive and effector mechanisms and therapies that relate to each auto-inflammatory disorder at the genetic, molecular, cellular, and epidemiologic levels. The book also discusses the research behind auto-inflammatory disorders to offer detailed clinical guidelines regarding diagnostic techniques, treatment plans, and advice on how to best transition pediatric patients into adult treatment. This is an invaluable reference on auto-inflammatory syndromes for clinicians and researchers in pediatric and adult rheumatology and immunology.
|Author||: Bruno Bissonnette,Igor Luginbuehl,Bernard J. Dalens,Bruno Marciniak|
|Publisher||: McGraw-Hill Education / Medical|
|Release Date||: 2006-08-10|
|Pages||: 953 pages|
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.
Arab populations have their “own” genetic disorders, both universal and particular. Genetic diversity within these source populations, along with the fact that the rates of inbreeding are often high and family sizes are often large, constitute conditions that facilitate the emergence and detection of phenotypes explained notably by autosomal recessive inheritance; in which case, the use of homozygosity gene mapping can facilitate the discovery of the corresponding genes. The present book includes 5 parts dealing with various aspects that relate to the genetic structure of Arabs and minorities within the Arab world as well as genetic disorders prevalent in this part of the world. It includes updated reviews of the genetic disorders in various Arab countries and geographic regions. The focus is primarily, but not exclusively, on the group of single-gene disorders with particular emphasis on autosomal recessive conditions. It further includes epidemiological and clinical data as well as inheritance patterns, mutation and polymorphism data, and available haplotype analysis data. The ethnic and genetic diversity of the Arab populations is discussed as well as aspects of genetic counseling practice in this region together with a proposal for an ethical framework for genetic research and prevention of genetic disorders. The target audience of this book includes human and medical geneticists, genetic counselors, researchers, medical specialists dealing with Arab patients or practicing in Arab countries, medical and genetic counseling students, and nurses.
Although considerable light has been shed on the mechanisms of ocular immunity over the past 20 years, a complete understanding still eludes our grasp. To many ophthalmologists immunology itself is a comparatively new field. This volume will bring the latest findings in immunological research and the resulting new therapy methods to the ophthalmologist in practice. The scope of the topics goes from general principles of immuno-ophthalmology to more specific ones such as immunology of corneal transplantation or immune regulation of uveoretinal inflammation. With its broad scope of contributions, this publication will not only be significant to the ophthalmologist, but also to pediatricians, specialists in internal medicine as well as dermatologists confronted with eye diseases.