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Robert Guthrie The Pku Story
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Book Synopsis Robert Guthrie--the PKU Story by : Jean Koch
Download or read book Robert Guthrie--the PKU Story written by Jean Koch and published by Hope Publishing House. This book was released on 1997 with total page 214 pages. Available in PDF, EPUB and Kindle. Book excerpt: This marvelous history tells of Robert Guthrie's campaign to discover and promote world-wide newborn testing for PKU anomalies plus a host of other genetic disorders that cause mental retardation or premature death if not treated immediately. Dr. Guthrie also waged a battle against lead poisoning long before the public or the the medical community became concerned about this danger. This winsome biography captures the spirit of a soft-spoken, gentle man who was passionate about helping babies born at risk. It is a fitting tribute to a medical crusader and his colleagues who worked tirelessly to save thousands of children from illness and mental retardation.
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.
Book Synopsis Saving Babies? by : Stefan Timmermans
Download or read book Saving Babies? written by Stefan Timmermans and published by University of Chicago Press. This book was released on 2015-05-06 with total page 320 pages. Available in PDF, EPUB and Kindle. Book excerpt: Introduction: the consequences of newborn screening -- The expansion of newborn screening -- Patients-in-waiting -- Shifting disease ontologies -- Is my baby normal? -- The limits of prevention -- Does expanded newborn screening save lives? -- Conclusion: the future of expanded newborn screening
Book Synopsis Pediatric Board Study Guide by : Osama Naga
Download or read book Pediatric Board Study Guide written by Osama Naga and published by Springer. This book was released on 2015-03-27 with total page 611 pages. Available in PDF, EPUB and Kindle. Book excerpt: Covers the most frequently asked and tested points on the pediatric board exam. Each chapter offers a quick review of specific diseases and conditions clinicians need to know during the patient encounter. Easy-to-use and comprehensive, clinicians will find this guide to be the ideal final resource needed before taking the pediatric board exam.
Book Synopsis Blueprint, with a new afterword by : Robert Plomin
Download or read book Blueprint, with a new afterword written by Robert Plomin and published by MIT Press. This book was released on 2019-07-16 with total page 296 pages. Available in PDF, EPUB and Kindle. Book excerpt: A top behavioral geneticist makes the case that DNA inherited from our parents at the moment of conception can predict our psychological strengths and weaknesses. In Blueprint, behavioral geneticist Robert Plomin describes how the DNA revolution has made DNA personal by giving us the power to predict our psychological strengths and weaknesses from birth. A century of genetic research shows that DNA differences inherited from our parents are the consistent lifelong sources of our psychological individuality—the blueprint that makes us who we are. Plomin reports that genetics explains more about the psychological differences among people than all other factors combined. Nature, not nurture, is what makes us who we are. Plomin explores the implications of these findings, drawing some provocative conclusions—among them that parenting styles don't really affect children's outcomes once genetics is taken into effect. This book offers readers a unique insider's view of the exciting synergies that came from combining genetics and psychology. The paperback edition has a new afterword by the author.
Download or read book Orphan written by Philip Reilly and published by . This book was released on 2015 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: "This book is about the struggle to save the lives of children who, because of a roll of the genetic dice, are born with any one of more than several thousand rare genetic disorders. It recounts the now century long effort of small groups of physicians and scientists to take on some of these genetic diseases. In many cases just a few physician-scie
Book Synopsis The Hostage Brain by : Bruce S. McEwen
Download or read book The Hostage Brain written by Bruce S. McEwen and published by Rockefeller Univ. Press. This book was released on 1994 with total page 336 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Book Synopsis Latest Findings in Intellectual and Developmental Disabilities Research by : Uner Tan
Download or read book Latest Findings in Intellectual and Developmental Disabilities Research written by Uner Tan and published by BoD – Books on Demand. This book was released on 2012-02-15 with total page 408 pages. Available in PDF, EPUB and Kindle. Book excerpt: Intellectual and Developmental Disabilities presents reports on a wide range of areas in the field of neurological and intellectual disability, including habitual human quadrupedal locomotion with associated cognitive disabilities, Fragile X syndrome, autism spectrum disorders, Down syndrome, and intellectual developmental disability among children in an African setting. Studies are presented from researchers around the world, looking at aspects as wide-ranging as the genetics behind the conditions to new and innovative therapeutic approaches.
Book Synopsis Neonatal Hematology by : Pedro A. de Alarcón
Download or read book Neonatal Hematology written by Pedro A. de Alarcón and published by Cambridge University Press. This book was released on 2021-02-18 with total page 501 pages. Available in PDF, EPUB and Kindle. Book excerpt: An essential guide to the pathogenesis, diagnosis and management of hematologic problems in the neonate, covering erythrocyte disorders, leukocyte disorders, immunologic disorders and hemostatic disorders. Guidance is practical, including blood test interpretation, advice on transfusions and reference ranges for hematological values.
Book Synopsis Experimental and Quasi-experimental Designs for Generalized Causal Inference by : William R. Shadish
Download or read book Experimental and Quasi-experimental Designs for Generalized Causal Inference written by William R. Shadish and published by Cengage Learning. This book was released on 2002 with total page 664 pages. Available in PDF, EPUB and Kindle. Book excerpt: Sections include: experiments and generalised causal inference; statistical conclusion validity and internal validity; construct validity and external validity; quasi-experimental designs that either lack a control group or lack pretest observations on the outcome; quasi-experimental designs that use both control groups and pretests; quasi-experiments: interrupted time-series designs; regresssion discontinuity designs; randomised experiments: rationale, designs, and conditions conducive to doing them; practical problems 1: ethics, participation recruitment and random assignment; practical problems 2: treatment implementation and attrition; generalised causal inference: a grounded theory; generalised causal inference: methods for single studies; generalised causal inference: methods for multiple studies; a critical assessment of our assumptions.
Book Synopsis Robert Guthrie, Jr., Washington County, Pennsylvania by : Laurence R. Guthrie
Download or read book Robert Guthrie, Jr., Washington County, Pennsylvania written by Laurence R. Guthrie and published by . This book was released on with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Book Synopsis Newborn Screening for Pompe Disease by : Wuh-Liang Hwu
Download or read book Newborn Screening for Pompe Disease written by Wuh-Liang Hwu and published by MDPI. This book was released on 2021-09-02 with total page 146 pages. Available in PDF, EPUB and Kindle. Book excerpt: Pompe disease, also known as acid maltase deficiency or acid alpha-glucosidase deficiency, in its most severe form results in a rapidly progressive, neonatal-onset skeletal and cardiomyopathy, leading to early infantile death without treatment. The development of treatment with recombinant enzyme replacement therapy radically transformed the clinical trajectory of those affected, enabling long-term ventilator-free survival with resolution of cardiomyopathy. These positive clinical outcomes resulted in the implementation of newborn screening programs for Pompe disease across the world. This Special Issue highlights some of the experiences of Pompe screening programs worldwide and discusses public policy and ethical issues elicited by presymptomatic screening for Pompe disease.
Book Synopsis Handbook of Sweeteners by : S. Marie
Download or read book Handbook of Sweeteners written by S. Marie and published by Springer Science & Business Media. This book was released on 2013-11-21 with total page 316 pages. Available in PDF, EPUB and Kindle. Book excerpt: The study of sweetness and sweeteners has recently been an area well served by books at all levels, but this volume was planned to fill what we perceived as a gap in the coverage. There appeared to be no book which attempted to combine a study of sweetness with a thorough but concise coverage of all aspects of sweeteners. We set out to include all the important classes of sweeteners, including materials which do not yet have regulatory approval, so that clear comparisons could be made between them and their technological advantages and disadvantages. To achieve our first aim, of sufficient depth of coverage, the accounts within this volume are comprehensive enough to satisfy the requirements of a demanding readership, but cannot be exhaustive in a single volume of moderate proportions. The second aim, of breadth and conciseness, is satisfied by careful selection of the most pertinent material. For the purposes of this book, a sweetener is assumed to be any substance whose primary effect is to sweeten a food or beverage to be consumed, thus including both the nutritive and non-nutritive varieties, from the ubiquitous sucrose to the lesser known, newer developments in alternative sweeteners. The volume has its contents structured in a logical manner to enable it to be used in an ordered study of the complete subject area or as a convenient reference source.
Book Synopsis Organic Acids in Man by : R. Chalmers
Download or read book Organic Acids in Man written by R. Chalmers and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 531 pages. Available in PDF, EPUB and Kindle. Book excerpt: The writing of this book was prompted by the need for a comprehensive of current data on organic acids suitable for both newcomers and collection established researchers in this field. The only previous text of the kind was the excellent review by Nordmann and Nordmann (1961), and at that time the main method of analysis was paper chromatography with liquid chromatography being used in a limited way. Only three diseases in which organic acids accumulate were known (primary hyperoxaluria, phenylketonuria and alcaptonuria). Since then, with the development of gas chromatography and mass spectrometry, and the further development ofliquid chromatography, knowledge concerning the nature of the organic acids in physiological fluids has been greatly extended. At the same time, the number of organic acidurias has increased dramatically, there being now some 40-50 known diseases of this type. During the past 15 years or so, there have been several reviews, dealing with either specific diseases or groups of diseases (Gompertz, 1972, 1974; Tanaka, 1975), or presenting the proceedings of symposia (Stern and Toothill, 1972) or workshops (Marner et al. , 1974). This present text deals comprehensively and in detail with the organic acids in human physiological fluids in health and in disease states, and is particularly concerned with the methods necessary for their separation, determination and indentification.
Book Synopsis Handbook of Developmental Disabilities by : Samuel L. Odom
Download or read book Handbook of Developmental Disabilities written by Samuel L. Odom and published by Guilford Press. This book was released on 2009-01-21 with total page 673 pages. Available in PDF, EPUB and Kindle. Book excerpt: This authoritative handbook reviews the breadth of current knowledge about developmental disabilities: neuroscientific and genetic foundations; the impact on health, learning, and behavior; and effective educational and clinical practices. Leading authorities analyze what works in intervening with diverse children and families, from infancy through the school years and the transition to adulthood. Chapters present established and emerging approaches to promoting communication and language abilities, academic skills, positive social relationships, and vocational and independent living skills. Current practices in positive behavior support are discussed, as are strategies for supporting family adaptation and resilience.
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.
Book Synopsis Low Protein Food List for PKU by : Virginia E. Schuett
Download or read book Low Protein Food List for PKU written by Virginia E. Schuett and published by Createspace Independent Publishing Platform. This book was released on 2010-12 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book has been replaced by the online service HowMuchPhe.org, and smaller, pocket books are available at howmuchphe.org/books. The Low Protein Food List for PKU has been an indispensible resource for everyone involved in the treatment of phenylketonuria (PKU) since 1995. This third edition contains over 6,000 entries, the most extensive listing yet of foods that are potentially suitable for the diet, nearly double the number found in the previous edition. It includes many new foods found at health-oriented grocery stores, expanding choices for the diet. The book provides information on phenylalanine (phe), protein, and calorie content of foods based on serving portions, both in common measures and gram weights, in an easily searchable format. The handy "mg phe/gm food" column allows users to compare phenylalanine density of foods and make appropriate food choices for individual diet needs. People using an "exchange" system for counting phe will find exchanges are calculated for each food portion as well. The front section of the book also contains valuable information and tips for managing the PKU diet.
