Genetic Medicine

Author: Barton Childs
Publisher: JHU Press
ISBN: 9780801874420
Format: PDF
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"Highly recommended for a wide variety of audiences in addition to physicians and medical students... Fortunately, some of Childs's concepts are being applied to medical teaching already, but I know of no better synthesis in one book." -- Perspectives in Biology and Medicine

Genetic Diseases of the Kidney

Author: Richard P. Lifton
Publisher: Academic Press
ISBN: 9780080924274
Format: PDF, ePub
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Genetic approaches have revolutionized our understanding of the fundamental causes of human disease by permitting the identification of specific genes in which variation causes or contributes to susceptibility to, or protection from, disease. More than 2,000 disease genes have been identified in the last 20 years, providing important new insight into the pathophysiology of diseases in every field of medicine. Genetic Diseases of the Kidney offers expert insight into the role of genetic abnormalities in the pathogenesis of abnormal kidney function and kidney disease. Genetic abnormalities are carefully presented within the appropriate physiologic context so that readers will understand not only which genes are linked to which diseases but also which pathways lead from a genetic “disturbance” to the systemic appearance of disease. * Lays the essential foundation of mammalian genetics principles for medical professionals with little or no background in genetics * Analyzes specific renal diseases – both monogenic disorders confined to the kidney and systemic diseases with renal involvement – and explains their genetic causes *World-renowned editors and authors offer expert frameworks for understanding the links between genes and complex clinical disorders (i.e., lupus, diabetes, HIV, and hypertension)

Reframing Disease Contextually

Author: Mary Ann Gardell Cutter
Publisher: Springer Science & Business Media
ISBN: 9401701555
Format: PDF
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This volume will be of interest to philosophers of medicine, bioethicists, and philosophers, medical professionals, historians of western medicine, and health policymakers. The book provides an overview of key debates in the history of modern western medicine on the nature, knowledge, and value of disease. It includes case studies of e.g. AIDS, genetic disease, and gendered disease.

The Troubled Dream of Genetic Medicine

Author: Keith Wailoo
Publisher: JHU Press
ISBN: 9780801883255
Format: PDF, ePub, Docs
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With Tay-Sachs, cystic fibrosis, and sickle cell disease as a powerful backdrop, the authors reveal how these maladies -- freighted with contentious ethnic and racial meanings for many Americans -- became topics of biological fascination and crucibles of social debate. They unveil a complex story: about different kinds of suffering and faith, about unequal access to the promises and perils of modern medicine, and about how Americans consume innovation and how they come to believe in, or resist, the notion of imminent medical breakthroughs.

Myelodysplastic Syndromes Secondary Acute Myelogenous Leukemia

Author: Azra Raza
Publisher: Springer Science & Business Media
ISBN: 1461514630
Format: PDF, Kindle
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Myelodysplastic syndromes are to the bone marrow what pneumonia is to the lungs; the response of an organ to a variety of etiologic insults like aging, toxic exposure, infections and auto-immunity. Among infectious causes alone, pneumonia could be the result of a variety of possible pathogens including bacterial, viral, tuberculous or fungal agents. Similarly, MDS cannot be treated as a single disease. Attempts to harness the inherent complexity of MDS by devising `classifications' which group the various syndromes as one disease is as misguided as saying that a pneumonia is not infectious because it did not respond to antibiotics. Progress in the field will occur faster when we re-analyze this premise. Therefore, until a clearer picture of the disease emerges it is best to treat each of the MDS syndromes as a separate entity. Having no classification is better than a misleading one. Cancer research has been notable for its periodic cycles of promise and hope, followed by defeat and disappointments. It is not that there is no solution, but that the problem has not been identified precisely. This book is our attempt to define the most crucial questions related to MDS that need to be addressed immediately through logic, analysis and rigorous experimentation. If the emerging problems appear daunting, then instead of being overwhelmed by them, we should follow the advice of the great 20th century thinker Antonio Gramsci, `pessimism of the intellect must be faced with the optimism of will'.

Life Histories of Genetic Disease

Author: Andrew J. Hogan
Publisher: JHU Press
ISBN: 1421420740
Format: PDF, ePub, Mobi
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Medical geneticists began mapping the chromosomal infrastructure piece by piece in the 1970s by focusing on what was known about individual genetic disorders. Five decades later, their infrastructure had become an edifice for prevention, allowing today’s expecting parents to choose to test prenatally for hundreds of disease-specific mutations using powerful genetic testing platforms. In Life Histories of Genetic Disease, Andrew J. Hogan explores how various diseases were "made genetic" after 1960, with the long-term aim of treating and curing them using gene therapy. In the process, he explains, these disorders were located in the human genome and became targets for prenatal prevention, while the ongoing promise of gene therapy remained on the distant horizon. In narrating the history of research that contributed to diagnostic genetic medicine, Hogan describes the expanding scope of prenatal diagnosis and prevention. He draws on case studies of Prader-Willi, fragile X, DiGeorge, and velo-cardio-facial syndromes to illustrate that almost all testing in medical genetics is inseparable from the larger—and increasingly "big data"–oriented—aims of biomedical research. Hogan also reveals how contemporary genetic testing infrastructure reflects an intense collaboration among cytogeneticists, molecular biologists, and doctors specializing in human malformation. Hogan critiques the modern ideology of genetic prevention, which suggests that all pregnancies are at risk for genetic disease and should be subject to extensive genomic screening. He examines the dilemmas and ethics of the use of prenatal diagnostic information in an era when medical geneticists and biotechnology companies have begun offering whole genome prenatal screening—essentially searching for any disease-causing mutation. Hogan’s focus and analysis is animated by ongoing scientific and scholarly debates about the extent to which the preventive focus in contemporary medical genetics resembles the aims of earlier eugenicists. Written for historians, sociologists, and anthropologists of science and medicine, as well as bioethics scholars, physicians, geneticists, and families affected by genetic conditions, Life Histories of Genetic Disease is a profound exploration of the scientific culture surrounding malformation and mutation.

Muscle Disease

Author: Hans H. Goebel
Publisher: John Wiley & Sons
ISBN: 1118635485
Format: PDF, Kindle
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This book clarifies the pathology and genetics of muscle disease for pathologists, clinicians, geneticists and researchers to aid in the diagnosis and management of patients. Organized around the 'motor unit' concept, this book presents the latest understanding of muscle disease, and how this can help identify new treatments.

Health Disease and Causal Explanations in Medicine

Author: L.Y Nordenfelt
Publisher: Springer Science & Business Media
ISBN: 9400962835
Format: PDF, Mobi
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On May 13-15, 1982, some 50 scientists and scholars - physicians, philos ophers and social scientists - convened at Hasselby Castle in Stockholm for the first Nordic Symposium on the Philosophy of Medicine. The topics for the symposium included (1) the concepts of health and disease, (2) classification in medicine, and (3) causality and causal explanations in medicine. The majority of the participants were Scandinavian but the symposium was also able to welcome four distinguished guests from other parts of the world, Professors Stuart F. Spicker and H. Tristram Engelhardt, Jr., U.S.A., Dr Anne M. Fagot, France, and Dr Werner Morbach, West Germany. The latter represented Professor Kazem Sadegh-zadeh, who unfortunately was prevented from attending. One of the main purposes of this symposium was to bring together people in Scandinavia who at present work within the field of Philosophy of Medi cine. This group is still relatively small but is growing rapidly, and the scholarly activity has recently been notable. This fact is clearly demonstrated by the presentation of 'Philosophy of Medicine in Scandinavia' in the Appendix of this volume.

Braunwald s heart disease

Author: Douglas P. Zipes
Publisher: W B Saunders Co
ISBN:
Format: PDF
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With 35 new chapters as well as comprehensive updates throughout, the New Edition of the cardiology masterwork represents the most complete revision to date. Hundreds of world authorities synthesize all of the developments that are revolutionizing practicefrom the newest findings in molecular biology and genetics to the latest imaging modalities, interventional procedures, and medications. Plus, it now features an exciting full-color layout with many new illustrations, a brand-new section on preventive cardiology, 20 new contributors, and a wealth of e-dition options to meet any reference need. Presents 35 new chapters that cover some of the hottest topics in the field, including end of life issues - the genetic basis of cardiovascular disease - obesity and diabetes - cardiac regeneration - sleep apnea - and more. Offers meticulous revisions and updates of all other chapters. Features a bold new full-color designwith over 2,500 illustrations of breathtaking clarity. Comes with a bonus CD-ROM with all of the text's illustrations for use in PowerPoint®, plus additional video clips. Also available as a stand-alone web site and as a single or 2-volume set e-dition.