Newborn Screening for Pompe Disease

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Publisher : MDPI
ISBN 13 : 3036505806
Total Pages : 146 pages
Book Rating : 4.0/5 (365 download)

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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.

Assessing Genetic Risks

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Publisher : National Academies Press
ISBN 13 : 0309047986
Total Pages : 353 pages
Book Rating : 4.3/5 (9 download)

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Book Synopsis Assessing Genetic Risks by : Institute of Medicine

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.

Representations of Youth

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Publisher : John Wiley & Sons
ISBN 13 : 0745666744
Total Pages : 342 pages
Book Rating : 4.7/5 (456 download)

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Book Synopsis Representations of Youth by : Christine Griffin

Download or read book Representations of Youth written by Christine Griffin and published by John Wiley & Sons. This book was released on 2013-04-25 with total page 342 pages. Available in PDF, EPUB and Kindle. Book excerpt: Representations of Youth examines the various constructions of 'youth' and 'adolescence' in recent British and North American research. Mainstream and radical approaches have presented a series of 'crises' about young people in relation to, among other things, unemployment, 'teenage pregnancy' and 'delinquency'. This book considers research in psychology, sociology, education, criminology and cultural studies in order to assess these accounts. The author offers a critical review of a wide range of findings about young people in areas as diverse as education and training, leisure, family life and sexuality. She shows that whilst youth research texts do not reflect young people's experiences in any straightforward manner, they do indicate the various complex and contradictory ways in which 'youth', 'adolescence' and specific groups of young people are represented in contemporary western societies. In so arguing, she presents new terms for thinking about the position of young people today. This is an important new text accessibly written for students of sociology, social psychology and contemporary culture in both Britain and the USA. It will also be of great interest to social science researchers in a range of other disciplines.

Inherited Metabolic Disease in Adults

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Publisher : Oxford University Press
ISBN 13 : 0199972133
Total Pages : 657 pages
Book Rating : 4.1/5 (999 download)

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Book Synopsis Inherited Metabolic Disease in Adults by : Carla E. M. Hollak

Download or read book Inherited Metabolic Disease in Adults written by Carla E. M. Hollak and published by Oxford University Press. This book was released on 2016 with total page 657 pages. Available in PDF, EPUB and Kindle. Book excerpt: As clinical management of inherited metabolic diseases (IMDs) has improved, more patients affected by these conditions are surviving into adulthood. This trend, coupled with the widespread recognition that IMDs can present differently and for the first time during adulthood, makes the need for a working knowledge of these diseases more important than ever. Inherited Metabolic Disease in Adults offers an authoritative clinical guide to the adult manifestations of these challenging and myriad conditions. These include both the classic pediatric-onset conditions and a number of new diseases that can manifest at any age. It is the first book to give a clear and concise overview of how this group of conditions affects adult patients, a that topic will become a growing imperative for physicians across primary and specialized care.

Prevention Effectiveness

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Publisher : Oxford University Press
ISBN 13 : 0195148975
Total Pages : 287 pages
Book Rating : 4.1/5 (951 download)

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Book Synopsis Prevention Effectiveness by : Anne C. Haddix

Download or read book Prevention Effectiveness written by Anne C. Haddix and published by Oxford University Press. This book was released on 2003 with total page 287 pages. Available in PDF, EPUB and Kindle. Book excerpt: As public accountability has increased and resources have become scarcer, public health, like clinical medicine, has been forced to re-examine the benefits and costs of its activities. Decision and economic analysis are basic tools in carrying out that mission. These methods have become standard practice in clinical medicine and health services research. This book , now in its second edition, was written in an effort to apply and adapt that experience with public health situations.The book was originally written to introduce Centers for Disease Control and Prevention staff to the concepts of decision and economic analysis, to provide guidance on methods to maximize comparability of studios, and to provide access to frequently used reference information. It has been adapted to meet the needs of scientists and managers in state and local health departments and managed care organizations as well as students in schools of public health and clinicians for an introductory text --a text that shows how these methods can be applied in population-based practice, to facilitate better comparability of studies, and to solidify understanding of the scientific basis for use of these tools in decision making. Decision makers will learn how these studies are conducted so they can be critical consumers-- understanding the strengths and limitations- and apply findings to policy and practice.The second edition updates and expands upon the standard methodology for condcuting prevention effectiveness analyses. Each chapter has been revised or re-written. The chapters on measuring effectiveness, decision analysis, and making information useful for decision makers as well as several appendices are entirely new.

Neonatal Screening for Inborn Errors of Metabolism

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Publisher : Springer
ISBN 13 : 9783642674907
Total Pages : 0 pages
Book Rating : 4.6/5 (749 download)

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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. 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.

Oxford Textbook of Global Public Health

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Publisher : Oxford University Press
ISBN 13 : 019881013X
Total Pages : 1717 pages
Book Rating : 4.1/5 (988 download)

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Book Synopsis Oxford Textbook of Global Public Health by : Roger Detels

Download or read book Oxford Textbook of Global Public Health written by Roger Detels and published by Oxford University Press. This book was released on 2017 with total page 1717 pages. Available in PDF, EPUB and Kindle. Book excerpt: Sixth edition of the hugely successful, internationally recognised textbook on global public health and epidemiology, with 3 volumes comprehensively covering the scope, methods, and practice of the discipline

Principles and Practice of Screening for Disease

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Publisher :
ISBN 13 : 9789241300346
Total Pages : 163 pages
Book Rating : 4.3/5 (3 download)

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Book Synopsis Principles and Practice of Screening for Disease by : J. M. G. Wilson

Download or read book Principles and Practice of Screening for Disease written by J. M. G. Wilson and published by . This book was released on 1968 with total page 163 pages. Available in PDF, EPUB and Kindle. Book excerpt: The basic principles of early disease detection, practical considerations, including the application of screening procedures in a number of different disease conditions, and, finally, present techniques and possible developments in methodology. Screening for the chronic non-communicable diseases prevalent in the more advanced countries froms the main subject of the report, but the problems facing countries at other stages of development and with different standards and types of medical care are also discussed, and because of this communicable disease detection is also dealth with to some extent.

Pediatric Board Study Guide

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Publisher : Springer
ISBN 13 : 3319101153
Total Pages : 611 pages
Book Rating : 4.3/5 (191 download)

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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.

Physician's Guide to the Treatment and Follow-Up of Metabolic Diseases

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Publisher : Springer Science & Business Media
ISBN 13 : 3540289623
Total Pages : 404 pages
Book Rating : 4.5/5 (42 download)

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Book Synopsis Physician's Guide to the Treatment and Follow-Up of Metabolic Diseases by : Nenad Blau

Download or read book Physician's Guide to the Treatment and Follow-Up of Metabolic Diseases written by Nenad Blau and published by Springer Science & Business Media. This book was released on 2006-01-16 with total page 404 pages. Available in PDF, EPUB and Kindle. Book excerpt: This reference provides concise information on the treatment and management of inherited metabolic diseases for the clinician. World experts cover all commonalities of therapy giving practical advice and guidance for daily practice. All established treatment protocols in this quickly developing area of medicine are clearly described, including follow-up protocols and monitoring. Alternative and experimental therapies are also described and evaluated. Numerous tables, figures, and several indices (symptom, disease name, tests, etc.) allow rapid access to specific details. This book is invaluable to anyone dealing with patients with inherited metabolic diseases, pediatricians, internists, neurologists, and clinical geneticists.

Ethics and Newborn Genetic Screening

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Publisher :
ISBN 13 :
Total Pages : 384 pages
Book Rating : 4.F/5 ( download)

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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"

Global Public Health

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Publisher : Oxford University Press
ISBN 13 : 0199876991
Total Pages : 378 pages
Book Rating : 4.1/5 (998 download)

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Book Synopsis Global Public Health by : Franklin White

Download or read book Global Public Health written by Franklin White and published by Oxford University Press. This book was released on 2013-01-21 with total page 378 pages. Available in PDF, EPUB and Kindle. Book excerpt: Amid ongoing shifts in the world economic and political order, the promise for future public health is tenuous. Will today's economic systems sustain tomorrow's health? Will future generations inherit fair access to health and health care? An important hope for the health of future generations is the establishment of a well-grounded, global public health system. Global Public Health: Ecological Foundations addresses both the challenges and cooperative solutions of contemporary public health, within a framework of social justice, environmental sustainability, and global cooperation. With an emphasis on ecological foundations, this book approaches public health principles-history, foundations, topics, and applications-with a community-oriented perspective. By achieving global reach through cooperative, community-based interventions, this text illustrates that the practical application of public health principles can help maintain the health of the world's people. Blending established wisdom with new perspectives, Global Public Health will stimulate better understanding of how the different streams of public health can work more synergistically to promote global health equity. It is a foundation for future public health measures to be built and to succeed.

Atlas of Metabolic Diseases Second edition

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Publisher : CRC Press
ISBN 13 : 144411459X
Total Pages : 801 pages
Book Rating : 4.4/5 (441 download)

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Book Synopsis Atlas of Metabolic Diseases Second edition by : William Nyhan

Download or read book Atlas of Metabolic Diseases Second edition written by William Nyhan and published by CRC Press. This book was released on 2005-08-26 with total page 801 pages. Available in PDF, EPUB and Kindle. Book excerpt: In a field where even experts may find that years have elapsed since they last encountered a child with a given disorder, it is essential for the clinician to have a comprehensive source of practical and highly illustrated information covering the whole spectrum of metabolic disease to refer to. The second edition of this highly regarded book, auth

Toxicological Profile for Lead

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Publisher :
ISBN 13 :
Total Pages : 584 pages
Book Rating : 4.3/5 (91 download)

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Book Synopsis Toxicological Profile for Lead by :

Download or read book Toxicological Profile for Lead written by and published by . This book was released on 2007 with total page 584 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Economic Evaluation in Child Health

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Publisher : OUP Oxford
ISBN 13 : 9780199547494
Total Pages : 0 pages
Book Rating : 4.5/5 (474 download)

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Book Synopsis Economic Evaluation in Child Health by : Wendy Ungar

Download or read book Economic Evaluation in Child Health written by Wendy Ungar and published by OUP Oxford. This book was released on 2009-10-08 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Guidelines for conducting health economic evaluations have become increasingly standardized, however they don't address the unique concerns of the paediatric population. This is the first textbook to address economic evaluation in child health.

Textbook of Clinical Pediatrics

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Publisher : Springer Science & Business Media
ISBN 13 : 3642022022
Total Pages : 4213 pages
Book Rating : 4.6/5 (42 download)

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Book Synopsis Textbook of Clinical Pediatrics by : H. A. Harfi

Download or read book Textbook of Clinical Pediatrics written by H. A. Harfi and published by Springer Science & Business Media. This book was released on 2012-01-10 with total page 4213 pages. Available in PDF, EPUB and Kindle. Book excerpt: The new edition of this classic reference offers a problem-based approach to pediatric diseases. It encompasses almost all pediatric subspecialties and covers every pediatric disease and organ system. It includes case studies and over 750 lavish illustrations.

DNA-based Population Screening for Precision Public Health

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Publisher : Frontiers Media SA
ISBN 13 : 2832507344
Total Pages : 324 pages
Book Rating : 4.8/5 (325 download)

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Book Synopsis DNA-based Population Screening for Precision Public Health by : Laura V. Milko

Download or read book DNA-based Population Screening for Precision Public Health written by Laura V. Milko and published by Frontiers Media SA. This book was released on 2022-11-28 with total page 324 pages. Available in PDF, EPUB and Kindle. Book excerpt: