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Newborn Screening
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Book Synopsis Challenges and Opportunities in Using Residual Newborn Screening Samples for Translational Research by : Institute of Medicine
Download or read book Challenges and Opportunities in Using Residual Newborn Screening Samples for Translational Research written by Institute of Medicine and published by National Academies Press. This book was released on 2010-11-23 with total page 85 pages. Available in PDF, EPUB and Kindle. Book excerpt: Newborn screening samples are used to test more than 4 million infants each year for life-threatening diseases that are treatable if found at birth. These specimens also represent a potentially invaluable resource for public health and biomedical research. The IOM held a workshop to examine issues surrounding the use of residual specimens for translational research.
Book Synopsis Understanding Genetics by : Genetic Alliance
Download or read book Understanding Genetics written by Genetic Alliance and published by Lulu.com. This book was released on 2009 with total page 104 pages. Available in PDF, EPUB and Kindle. Book excerpt: The purpose of this manual is to provide an educational genetics resource for individuals, families, and health professionals in the New York - Mid-Atlantic region and increase awareness of specialty care in genetics. The manual begins with a basic introduction to genetics concepts, followed by a description of the different types and applications of genetic tests. It also provides information about diagnosis of genetic disease, family history, newborn screening, and genetic counseling. Resources are included to assist in patient care, patient and professional education, and identification of specialty genetics services within the New York - Mid-Atlantic region. At the end of each section, a list of references is provided for additional information. Appendices can be copied for reference and offered to patients. These take-home resources are critical to helping both providers and patients understand some of the basic concepts and applications of genetics and genomics.
Book Synopsis Prevention of Thalassaemias and Other Haemoglobin Disorders by : Galanello Renzo
Download or read book Prevention of Thalassaemias and Other Haemoglobin Disorders written by Galanello Renzo and published by . This book was released on 2003 with total page 190 pages. Available in PDF, EPUB and Kindle. Book excerpt: Volume 1 of the Prevention Book presents the principles of a programme for the prevention of the thalassaemia and other haemoglobin disorders, including a description of the various types of disorders requiring prenatal diagnosis, the strategies used for carrier screening, and a number of annexes listing upto date epidemiological and mutation data on thalassaemia. This book was written for use in combination with Volume 2, which describes many of the laboratory protocols in great detail.
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 2013 with total page 320 pages. Available in PDF, EPUB and Kindle. Book excerpt: It has been close to six decades since Watson and Crick discovered the structure of DNA and more than ten years since the human genome was decoded. Today, through the collection and analysis of a small blood sample, every baby born in the United States is screened for more than fifty genetic disorders. Though the early detection of these abnormalities can potentially save lives, the test also has a high percentage of false positives—inaccurate results that can take a brutal emotional toll on parents before they are corrected. Now some doctors are questioning whether the benefits of these screenings outweigh the stress and pain they sometimes produce. In Saving Babies?, Stefan Timmermans and Mara Buchbinder evaluate the consequences and benefits of state-mandated newborn screening—and the larger policy questions they raise about the inherent inequalities in American medical care that limit the effectiveness of this potentially lifesaving technology. Drawing on observations and interviews with families, doctors, and policy actors, Timmermans and Buchbinder have given us the first ethnographic study of how parents and geneticists resolve the many uncertainties in screening newborns. Ideal for scholars of medicine, public health, and public policy, this book is destined to become a classic in its field.
Book Synopsis Newborn Screening for Sickle Cell Disease and other Haemoglobinopathies by : Stephan Lobitz
Download or read book Newborn Screening for Sickle Cell Disease and other Haemoglobinopathies written by Stephan Lobitz and published by MDPI. This book was released on 2019-10-07 with total page 160 pages. Available in PDF, EPUB and Kindle. Book excerpt: Newborn Screening for Sickle Cell Disease and other Haemoglobinopathies is a Special Issue of the International Journal of Neonatal Screening. Sickle cell disease is one of the most common inherited blood disorders, with a huge impact on health care systems due to high morbidity and high mortality associated with the undiagnosed disease. Newborn screening helps to make the diagnosis early and to prevent fatal complications and diagnostic odysseys. This book gives an overview of diagnostic standards in newborn screening for sickle cell disease and examples of existing newborn screening programs.
Book Synopsis Neonatal Screening for Inborn Errors of Metabolism by : H. Bickel
Download or read book Neonatal Screening for Inborn Errors of Metabolism written by H. Bickel and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 348 pages. Available in PDF, EPUB and Kindle. Book excerpt: Although neonatal screening was begun only 20 years ago, and is consequently still in its early stages, it is already a classic example of efficient preventive pediatrics. At present, routine neonatal screening covering a satisfactory percentage of newborn babies is carried out in only a small part ofthe world. For some five diseases enough infants have been screened to give reasonably reliable information about the frequency of these diseases in various populations. Interesting differences are beginning to appear in popula tions of different ethnic and racial background. The medical importance of neonatal screening is especially obvious in metabolic diseases that are not too rare and for which effective treatment depends upon an early diagnosis, such as phenylketonuria, galactosemia, and - a more recent screening pro gram - hypothyroidism. About 1 of 4000 newborns is affected with hypothyroidism and can receive timely substitution with thyroid hormone. Of 34.5 million babies tested for phenylketonuria, 3000 cases have been diagnosed in time to prevent mental retardation by means of dietary therapy.
Download or read book Testing Baby written by Rachel Grob and published by Rutgers University Press. This book was released on 2011-09-01 with total page 290 pages. Available in PDF, EPUB and Kindle. Book excerpt: Within forty-eight hours after birth, the heel of every baby in the United States has been pricked and the blood sent for compulsory screening to detect or rule out a large number of disorders. Newborn screening is expanding rapidly, fueled by the prospect of saving lives. Yet many lives are also changed by it in ways not yet recognized. Testing Baby is the first book to draw on parents’ experiences with newborn screening in order to examine its far-reaching sociological consequences. Rachel Grob’s cautionary tale also explores the powerful ways that parents’ narratives have shaped this emotionally charged policy arena. Newborn screening occurs almost always without parents’ consent and often without their knowledge or understanding, yet it has the power to alter such things as family dynamics at the household level, the context of parenting, the way we manage disease identity, and how parents’ interests are understood and solicited in policy debates.
Book Synopsis Inborn Errors of Metabolism by : Brendan Lee
Download or read book Inborn Errors of Metabolism written by Brendan Lee and published by Oxford Monographs on Medical G. This book was released on 2014-10-13 with total page 393 pages. Available in PDF, EPUB and Kindle. Book excerpt: This volume is an expansion on the known treatment model of IEMs, one that establishes an innovative pathway approach and provides a new authority on this family of disease. Alongside the standard cadre of molecular and clinical underpinnings, this book includes coverage of newborn screening and an overarching treatment of IEMs as complex diseases.
Book Synopsis Newborn Screening Systems by : Carlie J. Driscoll
Download or read book Newborn Screening Systems written by Carlie J. Driscoll and published by Plural Publishing. This book was released on 2010-02-15 with total page 249 pages. Available in PDF, EPUB and Kindle. Book excerpt:
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 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 Ethics and Newborn Genetic Screening by : Mary Ann Baily
Download or read book Ethics and Newborn Genetic Screening written by Mary Ann Baily and published by . This book was released on 2009-06-15 with total page 384 pages. Available in PDF, EPUB and Kindle. Book excerpt: D., University of Washington--Mary Anderlik Majumder, Baylor College of Medicine "American Journal of Human Genetics"
Book Synopsis Newborn Screening Services by : Michele Lloyd-Puryear
Download or read book Newborn Screening Services written by Michele Lloyd-Puryear and published by . This book was released on 2010 with total page 2 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Testing Baby written by Rachel Grob and published by Critical Issues in Health and. This book was released on 2011 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Testing Baby is the first book to draw on parents' experiences with newborn screening in order to examine its far-reaching sociological consequences. Newborn screening occurs almost always without parents' consent and often without their knowledge or understanding, yet it has the power to alter such things as family dynamics at the household level, the context of parenting, the way we manage disease identity, and how parents' interests are understood and solicited in policy debates. Rachel Grob's cautionary tale explores the powerful ways that parents' narratives have shaped this emotionally charged policy arena.
Author :United States. Congress. Senate. Committee on Health, Education, Labor, and Pensions. Subcommittee on Children and Families Publisher : ISBN 13 : Total Pages :80 pages Book Rating :4.0/5 (9 download)
Book Synopsis Newborn screening by : United States. Congress. Senate. Committee on Health, Education, Labor, and Pensions. Subcommittee on Children and Families
Download or read book Newborn screening written by United States. Congress. Senate. Committee on Health, Education, Labor, and Pensions. Subcommittee on Children and Families and published by . This book was released on 2002 with total page 80 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Book Synopsis Newborn Screening Systems: The Complete Perspective by :
Download or read book Newborn Screening Systems: The Complete Perspective written by and published by . This book was released on with total page pages. Available in PDF, EPUB and Kindle. Book excerpt:
Book Synopsis Pediatric Laboratory Medicine by : Patricia M. Jones
Download or read book Pediatric Laboratory Medicine written by Patricia M. Jones and published by McGraw Hill Professional. This book was released on 2017-05-22 with total page 544 pages. Available in PDF, EPUB and Kindle. Book excerpt: A complete full-color guide to medical laboratory test selection and test result interpretation for disorders and diagnoses specific to pediatric and neonatal populations Laboratory medicine practiced at a pediatric institution has unique characteristics specific to infants and children, who differ both metabolically and biochemically from adults. Many aspects of laboratory medicine are affected by these differences, from basic, day-to-day operational issues through test selection for pediatric-specific disorders. However, most references in laboratory medicine merely touch upon pediatrics – and offer little if any coverage of variations in testing and results for different age groups, or the many diseases and disorders most common in infants and children. Pediatric Laboratory Medicine is specifically written to fill this critical void in the literature. Now, for the first time, all important reference material concerning pediatric laboratory medicine is available in one convenient, up-to-date resource. Pediatric Laboratory Medicine teaches the effective operation of a pediatric clinical operation, and also provides guidelines for teaching trainees. This unique text delivers the how-to instruction necessary to ensure proper handling and testing of pediatric specimens to ensure accurate diagnosis. Valuable learning aids include learning objectives, end-of-chapter review questions, and references for further study. Written by experienced clinicians, the book’s seventeen chapters cover virtually every important topic – from daily issues in the practice of pediatric laboratory medicine to common tests and considerations to inborn errors of metabolism and therapeutic drug monitoring. Enhanced by numerous tables and high-quality full-color images, this authoritative resource delivers everything necessary for effective pediatric laboratory medicine training and practice.
