Download or read book The PKU Paradox written by Diane B. Paul and published by JHU Press. This book was released on 2013-12-01 with total page 316 pages. Available in PDF, EPUB and Kindle. Book excerpt: How did a disease of marginal public health significance acquire paradigmatic status in public health and genetics? In a lifetime of practice, most physicians will never encounter a single case of PKU. Yet every physician in the industrialized world learns about the disease in medical school and, since the early 1960s, the newborn heel stick test for PKU has been mandatory in many countries. Diane B. Paul and Jeffrey P. Brosco’s beautifully written book explains this paradox. PKU (phenylketonuria) is a genetic disorder that causes severe cognitive impairment if it is not detected and treated with a strict and difficult diet. Programs to detect PKU and start treatment early are deservedly considered a public health success story. Some have traded on this success to urge expanded newborn screening, defend basic research in genetics, and confront proponents of genetic determinism. In this context, treatment for PKU is typically represented as a simple matter of adhering to a low-phenylalanine diet. In reality, the challenges of living with PKU are daunting. In this first general history of PKU, a historian and a pediatrician explore how a rare genetic disease became the object of an unprecedented system for routine testing. The PKU Paradox is informed by interviews with scientists, clinicians, policymakers, and individuals who live with the disease. The questions it raises touch on ongoing controversies about newborn screening and what happens to blood samples collected at birth.
Download or read book The PKU Paradox written by Diane B. Paul and published by JHU Press. This book was released on 2013-12 with total page 316 pages. Available in PDF, EPUB and Kindle. Book excerpt: How did a disease of marginal public health significance acquire paradigmatic status in public health and genetics? In a lifetime of practice, most physicians will never encounter a single case of PKU. Yet every physician in the industrialized world learns about the disease in medical school and, since the early 1960s, the newborn heel stick test for PKU has been mandatory in many countries. Diane B. Paul and Jeffrey P. Brosco’s beautifully written book explains this paradox. PKU (phenylketonuria) is a genetic disorder that causes severe cognitive impairment if it is not detected and treated with a strict and difficult diet. Programs to detect PKU and start treatment early are deservedly considered a public health success story. Some have traded on this success to urge expanded newborn screening, defend basic research in genetics, and confront proponents of genetic determinism. In this context, treatment for PKU is typically represented as a simple matter of adhering to a low-phenylalanine diet. In reality, the challenges of living with PKU are daunting. In this first general history of PKU, a historian and a pediatrician explore how a rare genetic disease became the object of an unprecedented system for routine testing. The PKU Paradox is informed by interviews with scientists, clinicians, policymakers, and individuals who live with the disease. The questions it raises touch on ongoing controversies about newborn screening and what happens to blood samples collected at birth.
Download or read book Imperfect Pregnancies written by Ilana Löwy and published by JHU Press. This book was released on 2017-12-01 with total page 295 pages. Available in PDF, EPUB and Kindle. Book excerpt: How has prenatal testing, once offered only for high-risk pregnancies, become standard medical care for pregnant women today? In the 1960s, thanks to the development of prenatal diagnosis, medicine found a new object of study: the living fetus. At first, prenatal testing was proposed only to women at a high risk of giving birth to an impaired child. But in the following decades, such testing has become routine. In Imperfect Pregnancies, Ilana Löwy argues that the generalization of prenatal diagnosis has radically changed the experience of pregnancy for tens of millions of women worldwide. Although most women are reassured that their future child is developing well, others face a stressful period of waiting for results, uncertain prognosis, and difficult decisions. Löwy follows the rise of biomedical technologies that made prenatal diagnosis possible and investigates the institutional, sociocultural, economic, legal, and political consequences of their widespread diffusion. Because prenatal diagnosis is linked to the contentious issue of selective termination of pregnancy for a fetal anomaly, debates on this topic have largely centered on the rejection of human imperfection and the notion that we are now perched on a slippery slope that will lead to new eugenics. Imperfect Pregnancies tells a more complicated story, emphasizing that there is no single standardized way to scrutinize the fetus, but there are a great number of historically conditioned and situated approaches. This book will interest students, scholars, health professionals, administrators, and activists interested in issues surrounding new medical technologies, screening, risk management, pregnancy, disability, and the history and social politics of women’s bodies.
Download or read book Philosophy of Molecular Medicine written by Giovanni Boniolo and published by Taylor & Francis. This book was released on 2016-11-18 with total page 297 pages. Available in PDF, EPUB and Kindle. Book excerpt: Philosophy of Molecular Medicine: Foundational Issues in Theory and Practice aims at a systematic investigation of a number of foundational issues in the field of molecular medicine. The volume is organized around four broad modules focusing, respectively, on the following key aspects: What are the nature, scope, and limits of molecular medicine? How does it provide explanations? How does it represent and model phenomena of interest? How does it infer new knowledge from data and experiments? The essays collected here, authored by prominent scientists and philosophers of science, focus on a handful of mainstream topics in the philosophical literature, such as causation, explanation, modeling, and scientific inference. These previously unpublished contributions shed new light on these traditional topics by integrating them with problems, methods, and results from three prominent areas of contemporary biomedical science: basic research, translational and clinical research, and clinical practice.
Download or read book The Circulation of Penicillin in Spain written by María Jesús Santesmases and published by Springer. This book was released on 2017-12-18 with total page 246 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book reconstructs the early circulation of penicillin in Spain, a country exhausted by civil war (1936–1939), and oppressed by Franco’s dictatorship. Embedded in the post-war recovery, penicillin’s voyages through time and across geographies – professional, political and social – were both material and symbolic. This powerful antimicrobial captivated the imagination of the general public, medical practice, science and industry, creating high expectations among patients, who at times experienced little or no effect. Penicillin’s lack of efficacy against some microbes fueled the search for new wonder drugs and sustained a decades-long research agenda built on the post-war concept of development through scientific and technological achievements. This historical reconstruction of the social life of penicillin between the 1940s and 1980s – through the dictatorship to democratic transition – explores political, public, medical, experimental and gender issues, and the rise of antibiotic resistance.
Download or read book Genomics and Society written by Dhavendra Kumar and published by Academic Press. This book was released on 2015-10-29 with total page 439 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genomics and Society; Ethical, Legal-Cultural, and Socioeconomic Implications is the first book to address the vast and thorny web of ELSI topics identified as core priorities of the NHGRI in 2011. The work addresses fundamental issues of biosociety and bioeconomy as the revolution in biology moves from research lab to healthcare system. Of particular interest to healthcare practitioners, bioethicists, and health economists, and of tangential interest to the gamut of applied social scientists investigating the societal impact of new medical paradigms, the work describes a myriad of issues around consent, confidentiality, rights, patenting, regulation, and legality in the new era of genomic medicine. - Addresses the vast and thorny web of ELSI topics identified as core priorities of the NHGRI in 2011 - Presents the core fundamental issues of biosociety and bioeconomy as the revolution in biology moves from research lab to healthcare system - Describes a myriad of issues around consent, including confidentiality, rights, patenting, regulation, and more
Download or read book Entanglements of Rare Diseases in the Baltic Sea Region written by Malgorzata Rajtar and published by Lexington Books. This book was released on 2023-10-16 with total page 225 pages. Available in PDF, EPUB and Kindle. Book excerpt: Drawing on ethnographic studies of the lived experiences of people with rare diseases, this volume critically examines rare, chronic diseases in the context of care, kinship, and technologies, providing in-depth analyses of local worlds that usually remain at the peripheries of medical anthropological inquiry.
Download or read book Patient Centric Blood Sampling and Quantitative Analysis written by Neil Spooner and published by John Wiley & Sons. This book was released on 2023-10-16 with total page 404 pages. Available in PDF, EPUB and Kindle. Book excerpt: PATIENT CENTRIC BLOOD SAMPLING AND QUANTITATIVE ANALYSIS Authoritative resource providing a complete overview of patient centric blood sampling, as well as its benefits and challenges Patient Centric Blood Sampling and Quantitative Analysis focuses on the growing interest in alternative means to standard phlebotomy and analytical workflows for the collection and analysis of high-quality human biological samples for the quantitative determination of circulating drugs, their metabolites, and endogenous substances for clinical trials, routine healthcare and neonatal screening. The book clearly explains the benefits and constraints of having patients collect small volumes of blood in locations outside of a clinic (e.g at home), including: patient convenience; less invasive procedures; increased frequency of sampling; applicability to collecting samples from the young, elderly, and those in remote locations; greater frequency; and lower cost per sample. Readers will learn about approaches for successfully implementing patient centric sampling workflows in a number of scenarios, including the clinical setting and in the analytical laboratory. Edited by four recognized experts in this field, with additional specialists in the discipline enlisted to write the component chapters, enabling greater depth and detail to be added and further raising the scientific standing of the publication, Patient Centric Blood Sampling and Quantitative Analysis includes information on: Basics of patient centric blood sampling and techniques and approaches that are available and in development for the collection and analysis of the samples Science behind patient centric blood sampling and its implications regarding human healthcare and wellbeing Application areas of patient centric sampling, including drug development, clinical chemistry/pathology, therapeutic drug monitoring, and more Practical approaches to successful implementation for existing and developing purposes and workflows, and case studies to support implementation within an organization Giving the reader a broad understanding of what patient centric sampling is and where it might be applied for existing and potential future areas, Patient Centric Blood Sampling and Quantitative Analysis is an essential resource on the subject for many different types of laboratories, areas of clinical research and healthcare, including those in pharmaceutical, clinical, and research functions.
Download or read book Human Heredity in the Twentieth Century written by Bernd Gausemeier and published by Routledge. This book was released on 2015-10-06 with total page 363 pages. Available in PDF, EPUB and Kindle. Book excerpt: The essays in this collection examine how human heredity was understood between the end of the First World War and the early 1970s. The contributors explore the interaction of science, medicine and society in determining how heredity was viewed across the world during the politically turbulent years of the twentieth century.
Download or read book Thinking about Evolution written by Rama S. Singh and published by Cambridge University Press. This book was released on 2001 with total page 638 pages. Available in PDF, EPUB and Kindle. Book excerpt: Originally published in 2001, this is the second of two volumes published by Cambridge University Press in honour of Richard Lewontin. This second volume of essays honours the philosophical, historical and political dimensions of his work. It is fitting that the volume covers such a wide range of perspectives on modern biology, given the range of Lewontin's own contributions. He is not just a very successful practitioner of evolutionary genetics, but a rigorous critic of the practices of genetics and evolutionary biology and an articulate analyst of the social, political and economic contexts and consequences of genetic and evolutionary research. The volume begins with an essay by Lewontin on Natural History and Formalism in Evolutionary Genetics, and includes contributions by former students, post-docs, colleagues and collaborators, which cover issues ranging from the history and conceptual foundations of evolutionary biology and genetics, to the implications of human genetic diversity.
Download or read book Assessing Genetic Risks written by Institute of Medicine and published by National Academies Press. This book was released on 1994-01-01 with total page 353 pages. Available in PDF, EPUB and Kindle. Book excerpt: Raising hopes for disease treatment and prevention, but also the specter of discrimination and "designer genes," genetic testing is potentially one of the most socially explosive developments of our time. This book presents a current assessment of this rapidly evolving field, offering principles for actions and research and recommendations on key issues in genetic testing and screening. Advantages of early genetic knowledge are balanced with issues associated with such knowledge: availability of treatment, privacy and discrimination, personal decision-making, public health objectives, cost, and more. Among the important issues covered: Quality control in genetic testing. Appropriate roles for public agencies, private health practitioners, and laboratories. Value-neutral education and counseling for persons considering testing. Use of test results in insurance, employment, and other settings.
Download or read book The Politics of Heredity written by Diane B. Paul and published by SUNY Press. This book was released on 1998-01-01 with total page 238 pages. Available in PDF, EPUB and Kindle. Book excerpt: Explores the political forces underlying shifts in thinking about the respective influence of heredity and environment in shaping human behavior, and the feasibility and morality of eugenics.
Download or read book Testing Treatments written by Imogen Evans and published by Pinter & Martin Publishers. This book was released on 2011 with total page 187 pages. Available in PDF, EPUB and Kindle. Book excerpt: This work provides a thought-provoking account of how medical treatments can be tested with unbiased or 'fair' trials and explains how patients can work with doctors to achieve this vital goal. It spans the gamut of therapy from mastectomy to thalidomide and explores a vast range of case studies.
Download or read book Progressive Brain Disorders in Childhood written by Juan M. Pascual and published by Cambridge University Press. This book was released on 2017-04-20 with total page 507 pages. Available in PDF, EPUB and Kindle. Book excerpt: A review of childhood neurodegenerative and other progressive but non-degenerative disorders to guide their diagnosis and management.
Download or read book Death in a Small Package written by Susan D. Jones and published by Johns Hopkins University Press+ORM. This book was released on 2010-10-15 with total page 351 pages. Available in PDF, EPUB and Kindle. Book excerpt: A look at the historical development of the lethal disease and its relationship with humanity. A disease of soil, animals, and people, anthrax has threatened lives for at least two thousand years. Farmers have long recognized its lasting virulence, but in our time, anthrax has been associated with terrorism and warfare. What accounts for this frightening transformation? Death in a Small Package recounts how this ubiquitous agricultural disease came to be one of the deadliest and most feared biological weapons in the world. Bacillus anthracis is lethal. Animals killed by the disease are buried deep underground, where anthrax spores remain viable for decades or even centuries and, if accidentally disturbed, can cause new infections. But anthrax can be deliberately aerosolized and used to kill—as it was in the United States in 2001. Historian and veterinarian Susan D. Jones recounts the life story of anthrax through the biology of the bacillus; the political, economic, geographic, and scientific factors that affect anthrax prevalence; and the cultural beliefs about the disease that have shaped human responses to it. She explains how Bacillus anthracis became domesticated, discusses what researchers have learned from numerous outbreaks, and analyzes how the bacillus came to be weaponized and what this development means for the modern world. Jones compellingly narrates the biography of this frightfully hardy disease from the ancient world through the present day. “Death in a Small Package is interesting, well written, and accessible, presenting a worthwhile addition to the history of modern medicine and bacteriological science.” —Karen Brown, Isis
Download or read book Controlling Human Heredity written by Diane B. Paul and published by Humanities Press International. This book was released on 1995 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: This historiography emphasizes eugenics' broad and persistent appeal and its close association with genetics. Professor Paul aims to bridge the gap between expert and lay understandings of the history of eugenics. She enriches the debate on the perplexing contemporary choices in genetic medicine.
Download or read book Frontiers in the Nutrition Sciences written by Institute of Medicine and published by National Academies Press. This book was released on 1989-02-01 with total page 241 pages. Available in PDF, EPUB and Kindle. Book excerpt: This series of individually authored chapters examines the nature and extent of scientific advances in the nutrition sciences and describes both future opportunities in the field and barriers to progress. Despite concern about declining attention to nutrition in universities and medical schools, the authors offer a bright and challenging future in nutrition research and training that should generate enthusiasm among young researchers and teachers for this indispensable component of biology.
