NORD Guide to Rare Disorders Book
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NORD Guide to Rare Disorders


  • Author : National Organization for Rare Disorders
  • Publisher : Lippincott Williams & Wilkins
  • Release Date : 2003
  • Genre: Medical
  • Pages : 895
  • ISBN 10 : 0781730635

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NORD Guide to Rare Disorders 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.

The Heart in Rheumatic  Autoimmune and Inflammatory Diseases Book

The Heart in Rheumatic Autoimmune and Inflammatory Diseases


  • Author : Udi Nussinovitch
  • Publisher : Academic Press
  • Release Date : 2017-02-10
  • Genre: Medical
  • Pages : 766
  • ISBN 10 : 9780128032688

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The Heart in Rheumatic Autoimmune and Inflammatory Diseases Excerpt :

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 disease

Textbook of Autoinflammation Book

Textbook of Autoinflammation


  • Author : Philip J. Hashkes
  • Publisher : Springer
  • Release Date : 2019-02-13
  • Genre: Medical
  • Pages : 820
  • ISBN 10 : 9783319986050

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Textbook of Autoinflammation Excerpt :

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.

Auto Inflammatory Syndromes Book

Auto Inflammatory Syndromes


  • Author : Petros Efthimiou
  • Publisher : Springer
  • Release Date : 2019-01-04
  • Genre: Medical
  • Pages : 322
  • ISBN 10 : 9783319969299

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Auto Inflammatory Syndromes Excerpt :

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.

Familial Mediterranean Fever Book

Familial Mediterranean Fever


  • Author : Marco Gattorno
  • Publisher : Springer
  • Release Date : 2015-03-19
  • Genre: Medical
  • Pages : 162
  • ISBN 10 : 9783319146157

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Familial Mediterranean Fever Excerpt :

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.

Mutations in Human Genetic Disease Book

Mutations in Human Genetic Disease


  • Author : David N. Cooper
  • Publisher : Unknown
  • Release Date : 2012
  • Genre: Uncategoriezed
  • Pages : 306
  • ISBN 10 : 9535153293

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Mutations in Human Genetic Disease Excerpt :

Different types of mutation can vary in size, from structural variants to single base-pair substitutions, but what they all have in common is that their nature, size and location are often determined either by specific characteristics of the local DNA sequence environment or by higher order features of the genomic architecture. The genomes of higher organisms are now known to contain "pervasive architectural flaws" in that certain DNA sequences are inherently mutation prone by virtue of their base composition, sequence repetitivity and/or epigenetic modification. In this volume, a number of different authors from diverse backgrounds describe how the nature, location and frequency of different types of mutation causing inherited disease are shaped in large part, and often in remarkably predictable ways, by the local DNA sequence environment.

Familial Mediterranean Fever  New Insights for the Healthcare Professional  2012 Edition Book

Familial Mediterranean Fever New Insights for the Healthcare Professional 2012 Edition


  • Author : Anonim
  • Publisher : ScholarlyEditions
  • Release Date : 2012-12-10
  • Genre: Medical
  • Pages : 29
  • ISBN 10 : 9781464978920

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Familial Mediterranean Fever New Insights for the Healthcare Professional 2012 Edition Excerpt :

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/.

Skin Manifestations in Rheumatic Disease Book

Skin Manifestations in Rheumatic Disease


  • Author : Marco Matucci-Cerinic
  • Publisher : Springer Science & Business Media
  • Release Date : 2013-09-11
  • Genre: Medical
  • Pages : 410
  • ISBN 10 : 9781461478492

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Skin Manifestations in Rheumatic Disease Excerpt :

Rheumatologic diseases are highly associated with clinical symptoms of the skin, nails, and mucosal membranes. This book provides the practicing rheumatologist with a rapid, easy to consult reference to help interpret the nature of these cutaneous lesions and then quickly decide upon the appropriate follow-up tests. Utilizing an abundance of informative photographs, it contains all of the essential information needed for early diagnosis and treatment. This comprehensive guide properly orients the practitioner within the challenging world of rheumatologic disorders of the skin and gives insight into when consultation with a dermatologist is advisable.

IL 1 Inhibition Book

IL 1 Inhibition


  • Author : Francesca Oliviero
  • Publisher : Frontiers Media SA
  • Release Date : 2019-06-14
  • Genre: Uncategoriezed
  • Pages : null
  • ISBN 10 : 9782889458578

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IL 1 Inhibition Excerpt :

This special article collection of Frontiers in Pharmacology includes reviews and original articles on different aspects of IL-1 inhibition. Since the time IL-1 and its natural antagonist IL-1Ra have been discovered, specific IL-1 targeted therapies have been developed to cure an increasing number of diseases. The purpose of this Research Topic is to provide an overview of the different clinical uses of IL-1 blockade and new insights in basic research issues.

Syndromes  Rapid Recognition and Perioperative Implications Book

Syndromes Rapid Recognition and Perioperative Implications


  • Author : Bruno Bissonnette
  • Publisher : McGraw-Hill Education / Medical
  • Release Date : 2006-08-10
  • Genre: Medical
  • Pages : 953
  • ISBN 10 : UOM:39015064795670

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Syndromes Rapid Recognition and Perioperative Implications 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.

Familial Mediterranean Fever  New Insights for the Healthcare Professional  2011 Edition Book

Familial Mediterranean Fever New Insights for the Healthcare Professional 2011 Edition


  • Author : Anonim
  • Publisher : ScholarlyEditions
  • Release Date : 2012-01-09
  • Genre: Medical
  • Pages : 21
  • ISBN 10 : 9781464913280

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Familial Mediterranean Fever New Insights for the Healthcare Professional 2011 Edition Excerpt :

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/.

Recurrent Polyserositis Book

Recurrent Polyserositis


  • Author : Marcel Eliakim
  • Publisher : Elsevier-North-Holland Biomedical Press
  • Release Date : 1981
  • Genre: Periodic disease
  • Pages : 227
  • ISBN 10 : UOM:39015000867666

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Recurrent Polyserositis Excerpt :