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Scientists Identify Gene For Familial Mediterranean Fever
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Book Synopsis Scientists Identify Gene for Familial Mediterranean Fever by :
Download or read book Scientists Identify Gene for Familial Mediterranean Fever written by and published by . This book was released on with total page pages. Available in PDF, EPUB and Kindle. Book excerpt: Features the full text of an article entitled "Scientists Identify Gene For Familial Mediterranean Fever," presented by the P\S\L Consulting Group Inc. Notes that the discovery of the gene for Familial Mediterranean Fever (FMF) will enable researchers to develop a simple diagnostic test for the disease.
Book Synopsis Familial Mediterranean Fever (FMF) by : Yehuda Shoenfeld
Download or read book Familial Mediterranean Fever (FMF) written by Yehuda Shoenfeld and published by Academic Press. This book was released on 2020-12-15 with total page 160 pages. Available in PDF, EPUB and Kindle. Book excerpt: Familial Mediterranean Fever (FMF) is one of the most common genetic diseases in the world with more than 500,000 patients. Most are concentrated in Turkey, Israel, Armenia and other countries in the Mediterranean basin, however due to population migration FMF patients have been identified virtually in every country around the globe. With the increasing awareness of FMF and other autoinflammatory diseases in a wider geography, information concerning new disease associations, genotype-phenotype relations, effect of environmental factors, new treatment modalities, and recent advances in the pathogenesis have been accumulated. After being diagnosed with the disease, a disease for life, patients are left with many questions regarding their disease. This book encompasses all possible aspects of the disease, symptoms, clinical and genetic diagnosis, treatment, complications as well as a personal point of view from the patient's side in coping with the disease. The book is detailed and comprehensive so that it could also be a great value for medical staff, physicians and nurses interested in learning more details about the disease. Provides answers by medical experts to critical real world questions Gives an overview and an update on FMF Shows that FMF is not restricted to Mediterranean countries, and the lack of diagnosis in other areas of the world is probably due to a lack of awareness of this fascinating disease Raises the awareness of physicians regarding this disease so that patients can obtain the correct diagnosis and receive the appropriate treatment
Book Synopsis Textbook of Autoinflammation by : Philip J. Hashkes
Download or read book Textbook of Autoinflammation written by Philip J. Hashkes and published by Springer. This book was released on 2019-02-13 with total page 820 pages. Available in PDF, EPUB and Kindle. Book 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.
Book Synopsis Genomics and Health in the Developing World by : Dhavendra Kumar
Download or read book Genomics and Health in the Developing World written by Dhavendra Kumar and published by Oxford University Press. This book was released on 2012-05-11 with total page 1569 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genomics and Health in the Developing World provides detailed and comprehensive coverage of population structures, human genomics, and genome variation--with particular emphasis on medical and health issues--in the emerging economies and countries of the developing world. With sections dedicated to fundamtals of genetics and genomics, epidemiology of human disease, biomarkers, comparative genomics, developments in translational genomic medicine, current and future health strategies related to genetic disease, and pertinent legislative and social factors, this volume highlights the importance of utilizing genetics/genomics knowledge to promote and achieve optimal health in the developing world. Grouped by geographic region, the chapters in this volume address: - Inherited disorders in the developing world, including a thorough look at genetic disorders in minority groups of every continent - The progress of diagnostic laboratory genetic testing, prenatal screening, and genetic counseling worldwide - Rising ethical and legal concerns of medical genetics in the developing world - Social, cultural, and religious issues related to genetic diseases across continents Both timely and vastly informative, this book is a unique and comprehensive resource for genetists, clinicians, and public health professionals interested in the social, ethical, economic, and legal matters associated with medical genetics in the developing world.
Book Synopsis Genetic Disorders Among Arab Populations by : Ahmad S. Teebi
Download or read book Genetic Disorders Among Arab Populations written by Ahmad S. Teebi and published by Oxford University Press, USA. This book was released on 1997 with total page 538 pages. Available in PDF, EPUB and Kindle. Book excerpt: Few regions of the world have a more varied physiography or a richer ethnic, religious, social, and cultural mix than the Arab world. As a consequence, Arabs are genetically diverse despite their linguistic and religious cohesion. High but variable rates of inbreeding prevail in all Arab countries with numerous examples of isolates among them. These include some Bedouin groups, Nubians, Druze, Jews, and others. Arab populations have high frequencies of autosomal recessive disorders, homozygosity of autosomal dominant and X-linked traits, and a wealth of new syndromes and variants, the majority of which are autosomal recessive. Genetic disorders that cause major health problems include hemoglobinopathies, neurogenetic disorders, inherited metabolic diseases, and inborn error of morphogenesis. Because of their characteristically high prevalence, some of these disorders are considered markers for Arab populations. This book presents the unique profile of genetic disorders and variants in Arabs. In addition, it describes their unusual demographic pattern including fertility rates and other population dimensions, family structure, magnitude and effects of consanguineous marriages and indicators of health and disease. Genetic counseling and the distinctive cultural and religious attitudes towards various genetic issues are also presented. Disorders that have increased tribal occurrences or are limited to large kindreds, as well as small geographic or religious isolates, are highlighted to facilitate their recognition, study, and management.
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.
Author :Marco Matucci-Cerinic Publisher :Springer Science & Business Media ISBN 13 :1461478499 Total Pages :397 pages Book Rating :4.4/5 (614 download)
Book Synopsis Skin Manifestations in Rheumatic Disease by : Marco Matucci-Cerinic
Download or read book Skin Manifestations in Rheumatic Disease written by Marco Matucci-Cerinic and published by Springer Science & Business Media. This book was released on 2013-09-11 with total page 397 pages. Available in PDF, EPUB and Kindle. Book 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.
Book Synopsis The Heart in Rheumatic, Autoimmune and Inflammatory Diseases by : Udi Nussinovitch
Download or read book The Heart in Rheumatic, Autoimmune and Inflammatory Diseases written by Udi Nussinovitch and published by Academic Press. This book was released on 2017-02-10 with total page 768 pages. Available in PDF, EPUB and Kindle. Book 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 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.
Book Synopsis Rare Diseases and Orphan Products by : Institute of Medicine
Download or read book Rare Diseases and Orphan Products written by Institute of Medicine and published by National Academies Press. This book was released on 2011-04-03 with total page 442 pages. Available in PDF, EPUB and Kindle. Book excerpt: Rare diseases collectively affect millions of Americans of all ages, but developing drugs and medical devices to prevent, diagnose, and treat these conditions is challenging. The Institute of Medicine (IOM) recommends implementing an integrated national strategy to promote rare diseases research and product development.
Book Synopsis Genome Transcriptome and Proteome Analysis by : Alain Bernot
Download or read book Genome Transcriptome and Proteome Analysis written by Alain Bernot and published by John Wiley and Sons. This book was released on 2007-12-10 with total page 249 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genome Transcriptome and Proteome Analysis is a concise introduction to the subject, successfully bringing together these three key areas of research. Starting with a revision of molecular genetics the book offers clear explanations of the tools and techniques widely used in genome, transcriptome and proteome analysis. Subsequent chapters offer a broad overview of linkage maps, physical maps and genome sequencing, with a final discussion on the identification of genes responsible for disease. An invaluable introduction to the basic concepts of the subject, this text offers the student an excellent overview of current research methods and applications and is a good starting point for those new to the area. A clear, concise introduction to the subject of modern genomic analysis A technology-oriented approach including the latest developments in the field Invaluable to those students taking courses in Bioinformatics, Human Genetics, Biochemistry and Molecular Biology
Book Synopsis An Introduction to Human Molecular Genetics by : Jack J. Pasternak
Download or read book An Introduction to Human Molecular Genetics written by Jack J. Pasternak and published by John Wiley & Sons. This book was released on 2005-06-14 with total page 656 pages. Available in PDF, EPUB and Kindle. Book excerpt: An Introduction to Human Molecular Genetics Second Edition Jack J. Pasternak The Second Edition of this internationally acclaimed text expandsits coverage of the molecular genetics of inherited human diseaseswith the latest research findings and discoveries. Using a unique,systems-based approach, the text offers readers a thoroughexplanation of the gene discovery process and how defective genesare linked to inherited disease states in major organ and tissuesystems. All the latest developments in functional genomics,proteomics, and microarray technology have been thoroughlyincorporated into the text. The first part of the text introduces readers to the fundamentalsof cytogenetics and Mendelian genetics. Next, techniques andstrategies for gene manipulation, mapping, and isolation areexamined. Readers will particularly appreciate the text'sexceptionally thorough and clear explanation of genetic mapping.The final part features unique coverage of the molecular geneticsof distinct biological systems, covering muscle, neurological, eye,cancer, and mitochondrial disorders. Throughout the text, helpfulfigures and diagrams illustrate and clarify complex material. Readers familiar with the first edition will recognize the text'ssame lucid and engaging style, and will find a wealth of new andexpanded material that brings them fully up to date with a currentunderstanding of the field, including: * New chapters on complex genetic disorders, genomic imprinting,and human population genetics * Expanded and fully revised section on clinical genetics, coveringdiagnostic testing, molecular screening, and varioustreatments This text is targeted at upper-level undergraduate students,graduate students, and medical students. It is also an excellentreference for researchers and physicians who need a clinicallyrelevant reference for the molecular genetics of inherited humandiseases.
Book Synopsis Vogel and Motulsky's Human Genetics by : Michael Speicher
Download or read book Vogel and Motulsky's Human Genetics written by Michael Speicher and published by Springer Science & Business Media. This book was released on 2009-11-26 with total page 1006 pages. Available in PDF, EPUB and Kindle. Book excerpt: The fourth edition of this classical reference book can once again be relied upon to present a cohesive and up-to-date exposition of all aspects of human and medical genetics. Human genetics has become one of the main basic sciences in medicine, and molecular genetics is increasingly becoming a major part of this field. This new edition integrates a wealth of new information - mainly describing the influence of the "molecular revolution" - including the principles of epigenetic processes which together create the phenotype of a human being. Other revisions are an improved layout, sub-division into a larger number of chapters, as well as two-colour print throughout for ease of reference, and many of the figures are now in full colour. For graduates and those already working in medical genetics.
Book Synopsis Methods in Protein Biochemistry by : Harald Tschesche
Download or read book Methods in Protein Biochemistry written by Harald Tschesche and published by Walter de Gruyter. This book was released on 2011-12-23 with total page 379 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book presents a survey of recent developments in protein biochemistry. Top researchers in the field of protein biochemistry describe modern methods to address the challenges of protein purification by three-phase partitioning, and their folding and degradation by the functions of chaperones. The significance of peptide purity for fibril formation is addressed as well as the use of target oriented peptide arrays in palliative approaches in mucoviszidose. The design and application of protein epitope mimetics just as the structural resolving of the misfolding of various mutant proteins in serpinopathies enlarge our tools in resolving pathophysiological imbalances.
Book Synopsis Oxford Desk Reference by : Richard Watts
Download or read book Oxford Desk Reference written by Richard Watts and published by . This book was released on 2009 with total page 613 pages. Available in PDF, EPUB and Kindle. Book excerpt: Rheumatology is an ever-changing specialty in which the amount of available information is growing daily and spread across a myriad of books, journals and websites. The Oxford Desk Reference: Rheumatology brings this information together in an easy-to-use format. This essential resource combines up-to-date, relevant, evidence-based information with the latest guidelines and the experience of senior consultants. The book is designed such that each subject forms a self-contained topic in its own right, laid out across two or four pages to facilitate the key aim of rapid and easy access to information. This makes the information included simple to find, read and absorb, so that the book can be consulted in the clinic or ward setting for information on the optimum management of a particular condition. Written by internationally renowned rheumatology consultants, with expert contributors for each section, this book is must-have resource for all rheumatologists and an excellent reference for all doctors.
Book Synopsis Genetic Variation by : Rafael Trindade Maia
Download or read book Genetic Variation written by Rafael Trindade Maia and published by BoD – Books on Demand. This book was released on 2021-05-19 with total page 298 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genetic diversity is one of the measures of biodiversity and has consequences in biological variation. It is crucial to understand the evolutionary and adaptative processes in all living species. This book is an interdisciplinary and integrated work that will contribute to the knowledge of academics from different areas of biological sciences. This collection of scientific papers was chosen and analyzed to offer readers a broad and integrated view of the importance of genetic diversity in the evolution and adaptation of living beings, as well as practical applications of the information needed to analyze this diversity in different organisms. This book was edited by geneticist researchers and provides academics with up-to-date and quality information on the subject.
Download or read book Legacy written by Harry Ostrer MD and published by Oxford University Press. This book was released on 2012-08-10 with total page 300 pages. Available in PDF, EPUB and Kindle. Book excerpt: Who are the Jews--a race, a people, a religious group? For over a century, non-Jews and Jews alike have tried to identify who they were--first applying the methods of physical anthropology and more recently of population genetics. In Legacy, Harry Ostrer, a medical geneticist and authority on the genetics of the Jewish people, explores not only the history of these efforts, but also the insights that genetics has provided about the histories of contemporary Jewish people. Much of the book is told through the lives of scientific pioneers. We meet Russian immigrant Maurice Fishberg; Australian Joseph Jacobs, the leading Jewish anthropologist in fin-de-siècle Europe; Chaim Sheba, a colorful Israeli geneticist and surgeon general of the Israeli Army; and Arthur Mourant, one of the foremost cataloguers of blood groups in the 20th century. As Ostrer describes their work and the work of others, he shows that to look over the genetics of Jewish groups, and to see the history of the Diaspora woven there, is truly a marvel. Here is what happened as the Jews migrated to new places and saw their numbers wax and wane, as they gained and lost adherents and thrived or were buffeted by famine, disease, wars, and persecution. Many of these groups--from North Africa, the Middle East, India--are little-known, and by telling their stories, Ostrer brings them to the forefront at a time when assimilation is literally changing the face of world Jewry. A fascinating blend of history, science, and biography, Legacy offers readers an entirely fresh perspective on the Jewish people and their history. It is as well a cutting-edge portrait of population genetics, a field which may soon take its place as a pillar of group identity alongside shared spirituality, shared social values, and a shared cultural legacy.
Book Synopsis Concepts of Epidemiology by : Raj S. Bhopal
Download or read book Concepts of Epidemiology written by Raj S. Bhopal and published by Oxford University Press. This book was released on 2016 with total page 481 pages. Available in PDF, EPUB and Kindle. Book excerpt: First edition published in 2002. Second edition published in 2008.
