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Author :
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ISBN 13 : 9781897257029
Total Pages : 10 pages
Book Rating : 4.2/5 (57 download)
Download or read book Newborn Screening for Medium Chain Acyl-CoA Dehydrogenase Deficiency Using Tandem Mass Spectrometry written by and published by . This book was released on 2006 with total page 10 pages. Available in PDF, EPUB and Kindle. Book excerpt:
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ISBN 13 :
Total Pages : 0 pages
Book Rating : 4.:/5 (137 download)
Download or read book Clinical and cost-effectiveness of screening newborns for medium chain acyl-CoA dehydrogenase deficiency using tandem mass spectrometry written by and published by . This book was released on 2006 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: The fatty acids are taken up by cells in the heart, muscle, and liver, and converted to acyl~CoA esters in the cytoplasm.1 The acyl~CoA esters cross the mitochondria membranes as acylcarnitines, then return to their original form, and undergo oxidation, which is mediated by long, medium, and short chain acyl~CoA dehydrogenases. [...] While it has not been found in clinically diagnosed patients, it is present in a large proportion of samples from newborn screening.4 The incidence of MCADD is higher in Germany, the UK, and English-speaking countries, because the common A985G mutation originated in people of northern European descent.5,6 Each year in the UK, between 35 and 70 newborns have MCADD,7 an incidence of 1:20,000 to 1:9, [...] The highest incidence and rate of detection were reported in two studies in Germany,16,17 but a high incidence was also found in northern UK (1:12,600).24 Information about plasma AC8 levels, ratios of AC8 and AC10, and the percentage of A985G mutation in individuals identified by MS/MS screening is presented in Table 1. Few of the studies that looked at MS/MS-based screening followed up or report [...] For grey literature, we searched the web sites of regulatory agencies, health technology assessment and related agencies and specialized databases, including the University of York NHS Centre for Reviews and Dissemination, and the Latin American and Caribbean Center on Health Sciences Information. [...] Details about the probabilities of adverse health outcomes, and calculations of the values of some cost-related parameters and assumptions for the base case scenario are presented in Appendices 12, 13, and 14 of the Technology Report.15 Sensitivity Analysis We determined best and worst scenarios, and performed one- and two-way sensitivity analyses to dispel uncertainty in the base-case findings.
Author : Nenad Blau
Publisher : Springer
ISBN 13 : 3642403379
Total Pages : 880 pages
Book Rating : 4.6/5 (424 download)
Download or read book Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases written by Nenad Blau and published by Springer. This book was released on 2014-07-08 with total page 880 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book, combining and updating two previous editions, is a unique source of information on the diagnosis, treatment, and follow-up of metabolic diseases. The clinical and laboratory data characteristic of rare metabolic conditions can be bewildering for both clinicians and laboratory personnel. Reference laboratory data are scattered, and clinical descriptions may be obscure. The Physician’s Guide documents the features of more than five hundred conditions, grouped according to type of disorder, organ system affected (e.g. liver, kidney, etc) or phenotype (e.g. neurological, hepatic, etc). Relevant clinical findings are provided and pathological values for diagnostic metabolites highlighted. Guidance on appropriate biochemical genetic testing is provided. Established experimental therapeutic protocols are described, with recommendations on follow-up and monitoring. The authors are acknowledged experts, and the book will be a valuable desk reference for all who deal with inherited metabolic diseases.
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Publisher :
ISBN 13 :
Total Pages : 38 pages
Book Rating : 4.:/5 (9 download)
Download or read book Expanded Newborn Screening Using Tandem Mass Spectrometry written by and published by . This book was released on 2005 with total page 38 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Neonatal Screening of Inborn Errors of Metabolism Using Tandem Mass Spectrometer written by and published by . This book was released on 2003* with total page pages. Available in PDF, EPUB and Kindle. Book excerpt: Tandem Mass Spectrometer testing (MS/MS) can be considered a replacement for the Guthrie test in the screening of newborns for Inborn Errors of Metabolism (IEMs). The utility of MS/MS is especially appealing for medium chain acyl-CoA dehydrogenase deficiency (MCADD), though other IEMs may also be considered, based on the Medical Advisory Secretariat's (MAS) health technology assessment. Unique ethical issues associated with the expansion of the IEM screening program must be taken into account for each IEM considered for screening. These recommendations are based on an extensive review of the available literature, two major Health Technology Assessments, and consultations with relevant experts. An expanded neonatal program would require an enhanced infrastructure for result interpretation, reporting, care provision and counseling. A provincial implementation committee including representation form medical and laboratory experts, public, MOHLTC and experts in ethics and law should be established to consider logistic and societal impacts of expanding IEM screening.
Author : John Dean Thompson
Publisher :
ISBN 13 :
Total Pages : 94 pages
Book Rating : 4.:/5 (557 download)
Download or read book Economic Analysis and Policy Implications of Newborn Screening for Medium Chain Acyl-CoA Dehydrogenase Deficiency written by John Dean Thompson and published by . This book was released on 2003 with total page 94 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Author : Nenad Blau
Publisher : Springer Science & Business Media
ISBN 13 : 3540766987
Total Pages : 860 pages
Book Rating : 4.5/5 (47 download)
Download or read book Laboratory Guide to the Methods in Biochemical Genetics written by Nenad Blau and published by Springer Science & Business Media. This book was released on 2008-05-31 with total page 860 pages. Available in PDF, EPUB and Kindle. Book excerpt: This manual deals specifically with laboratory approaches to diagnosing inborn errors of metabolism. The key feature is that each chapter is sufficiently detailed so that any individual can adopt the described method into their own respective laboratory.
Author : Abdullah Pandor
Publisher :
ISBN 13 :
Total Pages : 134 pages
Book Rating : 4.:/5 (541 download)
Download or read book Clinical Effectiveness and Cost-effectiveness of Neonatal Screening for Inborn Errors of Metabolism Using Tandem Mass Spectrometry written by Abdullah Pandor and published by . This book was released on 2004 with total page 134 pages. Available in PDF, EPUB and Kindle. Book excerpt: The aim of this review was to evaluate the clinical and cost-effectiveness of tandem MS-based neonatal screening for inborn errors of metabolism.
Author : J. M. G. Wilson
Publisher :
ISBN 13 : 9789241300346
Total Pages : 163 pages
Book Rating : 4.3/5 (3 download)
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.
Author : Alvi Rahman
Publisher :
ISBN 13 :
Total Pages : pages
Book Rating : 4.:/5 (11 download)
Download or read book Estimating Screening Results Following the Introduction of Next-generation Sequencing Into Newborn Screening written by Alvi Rahman and published by . This book was released on 2017 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt: Objective: The objective of this thesis was to estimate the impact on newborn screening (NBS) results of changing screening technology from tandem mass spectrometry (MS/MS) to an approach using targeted next-generation sequencing (T-NGS) and MS/MS in parallel. Methods: We integrated results of an analysis of MS/MS screening data for phenylketonuria (PKU) and medium-chain acyl-CoA dehydrogenase (MCAD) deficiency; and a query of genetic compendia for variants of genes associated with the two disorders. Results: The introduction of T-NGS into NBS may reduce nearly 80% of false positives that are generated using the current screening approach. Based on estimated NBS results, T-NGS may be applied using a second-tier approach, which may improve specificity while maintaining sensitivity at its current level. Discussion: T-NGS may enhance the performance of NBS for PKU by improving specificity when used as a second tier test, but may be limited by feasibility and cost under current circumstances. Future studies should consider the cost-effectiveness of T-NGS for all infants undergoing NBS.
Author : SSIEM
Publisher : Springer Science & Business Media
ISBN 13 : 3642177085
Total Pages : 133 pages
Book Rating : 4.6/5 (421 download)
Download or read book JIMD Reports - Case and Research Reports, 2011/1 written by SSIEM and published by Springer Science & Business Media. This book was released on 2011-08-03 with total page 133 pages. Available in PDF, EPUB and Kindle. Book excerpt: JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.
Author : Wuh-Liang Hwu
Publisher : MDPI
ISBN 13 : 3036505806
Total Pages : 146 pages
Book Rating : 4.0/5 (365 download)
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.
Author : Charles R. Scriver
Publisher : New York ; Montreal : McGraw-Hill
ISBN 13 : 9780071363198
Total Pages : 6338 pages
Book Rating : 4.3/5 (631 download)
Download or read book The Metabolic & Molecular Bases of Inherited Disease written by Charles R. Scriver and published by New York ; Montreal : McGraw-Hill. This book was released on 2001 with total page 6338 pages. Available in PDF, EPUB and Kindle. Book excerpt: Presents clinical, biochemical, and genetic information concerning those metabolic anomalies grouped under inborn errors of metabolism.
Author : Osama Naga
Publisher : Springer
ISBN 13 : 3319101153
Total Pages : 611 pages
Book Rating : 4.3/5 (191 download)
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.
Author :
Publisher :
ISBN 13 : 9781424972685
Total Pages : 36 pages
Book Rating : 4.9/5 (726 download)
Download or read book Neonatal Screening of Inborn Errors of Metabolism Using Tandem Mass Spectrometry written by and published by . This book was released on 2003 with total page 36 pages. Available in PDF, EPUB and Kindle. Book excerpt: "The Medical Advisory Secretariat undertook a review of the evidence on the effectiveness and cost-effectiveness of using tandem mass spectrometer (MS/MS) for the neonatal screening of inborn errors of metabolism [IEM]"--Page 5.
Author : H. Bickel
Publisher : Springer
ISBN 13 : 9783642674907
Total Pages : 0 pages
Book Rating : 4.6/5 (749 download)
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.
Author : Acosta
Publisher : Jones & Bartlett Publishers
ISBN 13 : 1449617999
Total Pages : 489 pages
Book Rating : 4.4/5 (496 download)
Download or read book Nutrition Management of Patients with Inherited Metabolic Disorders written by Acosta and published by Jones & Bartlett Publishers. This book was released on 2010-10-22 with total page 489 pages. Available in PDF, EPUB and Kindle. Book excerpt: 5 Stars! Doody's Book Review Written by the foremost nutritionists in the United States, each of whom has more than 15 years of clinical experience providing nutrition management of patients with an inherited metabolic disorder (IMD), Nutrition Management of Patients with Inherited Metabolic Disorders supplies information to enhance the knowledge and skills needed by nutritionists/dietitians and other health care professionals who provide services to patients with IMDs. Many disorders that are disastrous to patients have been diagnosed and managed by diet, improving neurological and physical outcomes. However, nutrition problems still occur, whether due to the quality of the medical foods, inadequate prescription by health care providers or poor diet adherence by the patient. This book describes these problems and helps medical food manufacturers, medical geneticists, nutritionists/dietitians, and other health care providers find alternative forms of nutrients that would provide optimal nutrition and health for the patients.
