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Author: Stefan Timmermans
Publisher: University of Chicago Press
Published: 2015-05-06
Total Pages: 320
ISBN-13: 022627361X
DOWNLOAD EBOOKIntroduction: 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
Author: Institute of Medicine
Publisher: National Academies Press
Published: 1994-01-01
Total Pages: 353
ISBN-13: 0309047986
DOWNLOAD EBOOKRaising 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.
Author:
Publisher:
Published: 1997
Total Pages: 42
ISBN-13:
DOWNLOAD EBOOKAuthor: James R. Lupski
Publisher: Springer Science & Business Media
Published: 2007-11-10
Total Pages: 419
ISBN-13: 1597450391
DOWNLOAD EBOOKA grand summary and synthesis of the tremendous amount of data now available in the post genomic era on the structural features, architecture, and evolution of the human genome. The authors demonstrate how such architectural features may be important to both evolution and to explaining the susceptibility to those DNA rearrangements associated with disease. Technologies to assay for such structural variation of the human genome and to model genomic disorders in mice are also presented. Two appendices detail the genomic disorders, providing genomic features at the locus undergoing rearrangement, their clinical features, and frequency of detection.
Author: Wuh-Liang Hwu
Publisher: MDPI
Published: 2021-09-02
Total Pages: 146
ISBN-13: 3036505806
DOWNLOAD EBOOKPompe 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.
Author: Galanello Renzo
Publisher:
Published: 2003
Total Pages: 190
ISBN-13: 9789963623396
DOWNLOAD EBOOKVolume 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.
Author: Lyn Richards
Publisher: SAGE
Published: 2012-04-24
Total Pages: 337
ISBN-13: 1412998069
DOWNLOAD EBOOKThis text offers current thinking in the field. The authors are well-established qualitative researchers and have pulled off a great text for the beginning researcher.
Author: Manuel Posada de la Paz
Publisher: Springer
Published: 2017-12-06
Total Pages: 675
ISBN-13: 3319671448
DOWNLOAD EBOOKThe fields of rare diseases research and orphan products development continue to expand with more products in research and development status. In recent years, the role of the patient advocacy groups has evolved into a research partner with the academic research community and the bio-pharmaceutical industry. Unique approaches to research and development require epidemiological data not previously available to assist in protocol study design and patient recruitment for clinical trials required by regulatory agencies prior to approval for access by patents and practicing physicians.
Author: Australia. Law Reform Commission
Publisher: Sydney : Australian Law Reform Commission
Published: 2001
Total Pages: 441
ISBN-13: 9780642732118
DOWNLOAD EBOOK13. Law enforcement issues
Author: Uttam Garg
Publisher: Humana Press
Published: 2009-12-14
Total Pages: 0
ISBN-13: 9781607614586
DOWNLOAD EBOOKAs mass spectrometric methods now offer a level of specificity and sensitivity unrealized by spectrophotometric- and immunoassay-based methods, mass spectrometry has entered the clinical laboratory where it is being used for a wide range of applications. In Clinical Applications of Mass Spectrometry: Methods and Protocols, expert researchers provide detailed step-by-step procedures for the analysis of number of analytes of clinical importance. This versatile and expansive volume covers mass spectrometry methods for analytes including a variety of drugs, hormones, and metabolic compounds spanning the disciplines of toxicology, therapeutic drug monitoring, endocrinology, and pediatric metabolism. Written in the highly successful Methods in Molecular BiologyTM series format, chapters include brief introductions to the analytes, lists of the necessary materials and reagents, readily reproducible analytical protocols, and detailed notes on troubleshooting and avoiding known pitfalls. Comprehensive and dependable, Clinical Applications of Mass Spectrometry: Methods and Protocols offers its readers a wide array of valuable methods for experienced mass spectrometric labs that are looking to introduce new analyses as well as for those laboratories currently considering the addition of this resourceful and vital technology.
