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

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.

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.

Download or read book Neonatal Screening for Inborn Errors of Metabolism written by H. Bickel and published by Springer. This book was released on 2011-11-15 with total page 0 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 Reducing the Odds written by National Research Council and published by National Academies Press. This book was released on 1999-02-13 with total page 426 pages. Available in PDF, EPUB and Kindle. Book excerpt: Thousands of HIV-positive women give birth every year. Further, because many pregnant women are not tested for HIV and therefore do not receive treatment, the number of children born with HIV is still unacceptably high. What can we do to eliminate this tragic and costly inheritance? In response to a congressional request, this book evaluates the extent to which state efforts have been effective in reducing the perinatal transmission of HIV. The committee recommends that testing HIV be a routine part of prenatal care, and that health care providers notify women that HIV testing is part of the usual array of prenatal tests and that they have an opportunity to refuse the HIV test. This approach could help both reduce the number of pediatric AIDS cases and improve treatment for mothers with AIDS. Reducing the Odds will be of special interest to federal, state, and local health policymakers, prenatal care providers, maternal and child health specialists, public health practitioners, and advocates for HIV/AIDS patients. January

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.

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 291 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.

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.

Download or read book Universal Newborn Hearing Screening written by Lynn G. Spivak and published by . This book was released on 1998 with total page 304 pages. Available in PDF, EPUB and Kindle. Book excerpt: This volume coincides with the increased interest in the topic of universal newborn hearing screening, as America moves towards federally mandating hearing screening for all infants. It presents guidelines for establishing and successfully maintaining a screening programme.

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"

Download or read book Pediatric Endocrinology and Inborn Errors of Metabolism written by Kyriakie Sarafoglou and published by McGraw Hill Professional. This book was released on 2012-09-01 with total page 966 pages. Available in PDF, EPUB and Kindle. Book excerpt: Fast, crystal-clear guidance on managing both pediatric endocrine disorders and inborn errors of metabolism A Doody's Core Title for 2011! New England Journal of Medicine Review! "...an inspiring learning tool....Sarafoglou and colleagues have combined their expertise to create an informative and timely textbook in which the explanations of underlying mechanisms guide the structure of each chapter. It is a unique book that is pleasing to the eye, nurturing for the mind, and instructive for a broad readership."--New England Journal of Medicine 4 STAR DOODY'S REVIEW! "The book covers various pathophysiologic aspects of each endocrine organ and its interaction with other endocrine and nonendocrine systems. Disorders of thyroid and adrenal glands, pituitary, reproductive organs, and endocrine neoplasia are extensively covered. Most large groups of metabolic diseases are reviewed as well. Concise, pertinent information is provided on mitochondrial and fatty-acid oxidation, urea cycle and glycogen storage disorders, as well as organic acidurias and amino acidopathies. The most useful and user-friendly areas are the 1-to-2-page "at-a-glance" sections in each chapter which provide concise yet pertinent information about the disorders within a particular group of endocrine disturbances or IEM. This is a well written book and the multiple visual aids greatly assist in comprehension and memorization of the material...I strongly recommend this book without reservation." -- Doody's In one practical, user-friendly tutorial, a team of international contributors delivers the latest information and clinical insights you need to confidently diagnose and manage pediatric patients. This full-color resource guides you through the etiology, pathophysiology, presenting signs and symptoms, diagnostic laboratory examinations, and treatments regimens of each disorder. Features: Full-color presentation with numerous photos, illustrations, diagnostic algorithms, tables, and text boxes that summarize key concepts and assist in the decision-making process At-a-Glance feature beginning each disease-based chapter summarizes all the clinical information you need to differentiate between disorder sub-types in one easy-to-find place All-inclusive coverage encompasses the full spectrum of critical topics Emergency assessment and treatment chapter gives you fast, clear guidance on acute presentations of endocrine and metabolic disorders Chapter on newborn screening walks you through an abnormal screening result to follow-up diagnostic testing Complete and detailed information on all laboratory and radiographic testing used to diagnose disorders in both disciplines

Download or read book Screening written by Angela E. Raffle and published by Oxford University Press. This book was released on 2019-06-06 with total page 368 pages. Available in PDF, EPUB and Kindle. Book excerpt: Screening programmes involve the systematic offer of testing for populations or groups of apparently healthy people to identify individuals who may be at future risk of a particular medical condition or disease, with the aim of offering intervention to reduce their risk. For many years, screening was practised without debate, and without evidence, but in the 1960s serious challenges were raised about many of the screening procedures then being practised. Benefits and harms of screening must be measured in high quality trials, and the benefits of screening must be weighed alongside the negative side-effects. Concerns were raised about potential and actual harm arising when people without a health problem received dangerous and unnecessary investigations and treatments as a result of routine screening tests. Controversy raged, and it took some 50 years to achieve widespread recognition that evidence-based and quality assured programme delivery was essential, coupled with provision of balanced informed to enable informed choice for potential participants. Commercially motivated provision of poor quality and non-evidence based screening tests is increasing and screening remains a highly contested topic that has relevance in all health systems including for the general public and media. This book serves as a practical and comprehensive guide to all aspects of screening. Following the international success of the first edition, this second edition brings extensive updates and new case study material. The first section deals with concepts, methods, and evidence, charts the story of screening back to 1861, and covers all aspects of a screening programme and how to research the full consequences. The second section is a practical guide to sound policy-making and to high quality delivery of best value screening. The controversies, paradoxes, uncertainties, and ethical dilemmas of screening are explained, and each chapter is packed with examples, real-life case histories, helpful summary points, and self-test questions. Reference is made to the NHS, a leader in screening, but the primary focus is on universal principles, making the book highly relevant across the globe.

Download or read book Blood Groups and Red Cell Antigens written by Laura Dean and published by . This book was released on 2005 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt:

Download or read book Understanding Gene Testing written by and published by . This book was released on 1997 with total page 42 pages. Available in PDF, EPUB and Kindle. Book excerpt:

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 724 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.

Download or read book Newborn Screening Saves Lives 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 2014 with total page 48 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Download or read book WHO Guidelines on Drawing Blood written by Neelam Dhingra and published by . This book was released on 2010 with total page 109 pages. Available in PDF, EPUB and Kindle. Book excerpt: Phlebotomy uses large, hollow needles to remove blood specimens for lab testing or blood donation. Each step in the process carries risks - both for patients and health workers. Patients may be bruised. Health workers may receive needle-stick injuries. Both can become infected with bloodborne organisms such as hepatitis B, HIV, syphilis or malaria. Moreover, each step affects the quality of the specimen and the diagnosis. A contaminated specimen will produce a misdiagnosis. Clerical errors can prove fatal. The new WHO guidelines provide recommended steps for safe phlebotomy and reiterate accepted principles for drawing, collecting blood and transporting blood to laboratories/blood banks.