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Author : Beth A. Tarini
Publisher :
ISBN 13 :
Total Pages : 56 pages
Book Rating : 4.:/5 (87 download)
Download or read book State Newborn Screening in the Tandem Mass Spectrometry Era written by Beth A. Tarini and published by . This book was released on 2006 with total page 56 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Author : California. Newborn Screening Program
Publisher :
ISBN 13 :
Total Pages : 16 pages
Book Rating : 4.:/5 (614 download)
Download or read book Expanded Newborn Screening Using Tandem Mass Spectrometry written by California. Newborn Screening Program and published by . This book was released on 2005 with total page 16 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Author : François Rousseau
Publisher :
ISBN 13 : 9789535101413
Total Pages : pages
Book Rating : 4.1/5 (14 download)
Download or read book Newborn Screening By Tandem Mass Spectrometry: Impacts, Implications and Perspectives written by François Rousseau and published by . This book was released on 2012 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt:
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 :
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:
Author : François Rousseau
Publisher :
ISBN 13 : 9789535101413
Total Pages : 1 pages
Book Rating : 4.1/5 (14 download)
Download or read book Newborn Screening By Tandem Mass Spectrometry written by François Rousseau and published by . This book was released on 2012 with total page 1 pages. Available in PDF, EPUB and Kindle. Book excerpt: Newborn Screening By Tandem Mass Spectrometry: Impacts, Implications and Perspectives.
Author : United States. General Accounting Office
Publisher :
ISBN 13 :
Total Pages : 60 pages
Book Rating : 4.E/5 ( download)
Download or read book Newborn Screening written by United States. General Accounting Office and published by . This book was released on 2003 with total page 60 pages. Available in PDF, EPUB and Kindle. Book excerpt:
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 : N. Blau
Publisher : Springer Science & Business Media
ISBN 13 : 364255878X
Total Pages : 732 pages
Book Rating : 4.6/5 (425 download)
Download or read book Physician’s Guide to the Laboratory Diagnosis of Metabolic Diseases written by N. Blau and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 732 pages. Available in PDF, EPUB and Kindle. Book excerpt: This second edition of The Physician's Guide provides paediatricians and other physicians with a unique aid to help them select the correct diagnosis from a bewildering array of complex clinical and laboratory data. Delay and mistakes in the diagnosis of inherited metabolic diseases may have devastating consequences. The guide, which includes a CD-ROM, describes 298 disorders which have been grouped into 35 chapters according to the type of condition. Within each group of disorders, chapters provide tables of pertinent clinical findings as well as reference and pathological values for crucial metabolites. Relevant metabolic pathways and diagnostic flow charts are included. There are three indices to make the book as user-friendly as possible.
Author : Edmund D. Pellegrino
Publisher : DIANE Publishing
ISBN 13 : 1437921892
Total Pages : 174 pages
Book Rating : 4.4/5 (379 download)
Download or read book Changing Moral Focus of Newborn Screening written by Edmund D. Pellegrino and published by DIANE Publishing. This book was released on 2011 with total page 174 pages. Available in PDF, EPUB and Kindle. Book excerpt: This is a print on demand edition of a hard to find publication. Nearly 4 million newborns undergo genetic screening (GS) every year in the U.S. Until recently such GS was limited to diseases that were well understood and for which effective treatments were available. Now, however, most mandatory GS programs also test for diseases that are not well understood and for which there is no available treatment. This white paper describes how the change in policy to include GS for untreatable as well as treatable diseases came about. It provides basic info. about the techniques of GS, and the practical and ethical choices parents must face. The Council believes that the potential benefits of mandatory, population-wide newborn GS for diseases for which there is no current treatment are outweighed by the potential harms.
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 : Manuel Posada de la Paz
Publisher : Springer
ISBN 13 : 3319671448
Total Pages : 675 pages
Book Rating : 4.3/5 (196 download)
Download or read book Rare Diseases Epidemiology: Update and Overview written by Manuel Posada de la Paz and published by Springer. This book was released on 2017-12-06 with total page 675 pages. Available in PDF, EPUB and Kindle. Book excerpt: The 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 : Diane B. Paul
Publisher : JHU Press
ISBN 13 : 1421411318
Total Pages : 316 pages
Book Rating : 4.4/5 (214 download)
Download or read book The PKU Paradox written by Diane B. Paul and published by JHU Press. This book was released on 2013-12 with total page 316 pages. Available in PDF, EPUB and Kindle. Book excerpt: How did a disease of marginal public health significance acquire paradigmatic status in public health and genetics? In a lifetime of practice, most physicians will never encounter a single case of PKU. Yet every physician in the industrialized world learns about the disease in medical school and, since the early 1960s, the newborn heel stick test for PKU has been mandatory in many countries. Diane B. Paul and Jeffrey P. Brosco’s beautifully written book explains this paradox. PKU (phenylketonuria) is a genetic disorder that causes severe cognitive impairment if it is not detected and treated with a strict and difficult diet. Programs to detect PKU and start treatment early are deservedly considered a public health success story. Some have traded on this success to urge expanded newborn screening, defend basic research in genetics, and confront proponents of genetic determinism. In this context, treatment for PKU is typically represented as a simple matter of adhering to a low-phenylalanine diet. In reality, the challenges of living with PKU are daunting. In this first general history of PKU, a historian and a pediatrician explore how a rare genetic disease became the object of an unprecedented system for routine testing. The PKU Paradox is informed by interviews with scientists, clinicians, policymakers, and individuals who live with the disease. The questions it raises touch on ongoing controversies about newborn screening and what happens to blood samples collected at birth.
Author :
Publisher : World Health Organization
ISBN 13 : 9240014888
Total Pages : 24 pages
Book Rating : 4.2/5 (4 download)
Download or read book WHO guidelines on physical activity and sedentary behaviour written by and published by World Health Organization. This book was released on 2020-11-20 with total page 24 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Author : Jean F. Jenkins
Publisher : Jones & Bartlett Learning
ISBN 13 : 9780763733254
Total Pages : 432 pages
Book Rating : 4.7/5 (332 download)
Download or read book Nursing Care in the Genomic Era written by Jean F. Jenkins and published by Jones & Bartlett Learning. This book was released on 2005 with total page 432 pages. Available in PDF, EPUB and Kindle. Book excerpt: Increasingly, genomic-based approaches and resources are redefining our categorization of disease, leading to new approaches to prevention and therapy. As nurses traditionally practice patient-oriented care, they will undoubtedly play a key role in both developing and applying the aspects of genomic health care. Nursing Care in the Genomic Era: A Case Based Approach is designed to provide nurses with up-to-date and accessible information on this powerful new approach to understanding, preventing, and treating disease.
Author : Robert M. Tanguay
Publisher : Springer
ISBN 13 : 3319557807
Total Pages : 247 pages
Book Rating : 4.3/5 (195 download)
Download or read book Hereditary Tyrosinemia written by Robert M. Tanguay and published by Springer. This book was released on 2017-07-27 with total page 247 pages. Available in PDF, EPUB and Kindle. Book excerpt: Hereditary tyrosinemia type 1 (HT1), the most severe inborn error of the tyrosine degradation pathway, is due to a deficiency in fumarylacetoacetate hydrolase (FAH). The worldwide frequency of HT1 is one per 100,000 births, but some regions have a significantly higher incidence (1:1,800). The FAH defect results in the accumulation of toxic metabolites, mainly in the liver. If left untreated, HT1 is usually fatal before the age of two. HT1 patients develop several chronic complications including cirrhosis with a high risk of hepatocellular carcinoma (HCC) and neuropsychological impairment. Treatment comprises an inhibitor of the pathway, Nitisinone, a strict dietary treatment or liver transplantation. Early treatment is important to avoid HCC. The book includes the latest developments on the molecular basis of HT1, its pathology, screening and diagnosis and management of the disease written by leading scientists, geneticists, hepatologists and clinicians in the field.
Author : Georg F. Hoffmann
Publisher : Springer Science & Business Media
ISBN 13 : 3540747230
Total Pages : 380 pages
Book Rating : 4.5/5 (47 download)
Download or read book Inherited Metabolic Diseases written by Georg F. Hoffmann and published by Springer Science & Business Media. This book was released on 2009-11-21 with total page 380 pages. Available in PDF, EPUB and Kindle. Book excerpt: The explosion of insights in the field of metabolic disease has shed new light on diagnostic as well as treatment options. ‘Inherited Metabolic Disease – A Clinical Approach’ is written with a reader-friendly consistent structure. It helps the reader to find the information in an easily accessible and rapid way when needed. Starting with an overview of the major groups of metabolic disorders it includes algorithms with questions and answers as well as numerous graphs, metabolic pathways, and an expanded index. Clinical and diagnostic details with a system and symptom based are given to facilitate an efficient and yet complete diagnostic work-up of individual patients. Further, it offers helpful advice for emergency situations, such as hypoglycemia, hyperammonemia, lactic acidosis or acute encephalopathy. Five different indices allow a quick but complete orientation for common important constellations. Last but not least, it has an appendix with a guide to rapid differential diagnosis of signs and symptoms and when not to suspect metabolic disease. It will help physicians to diagnose patients they may otherwise fail to diagnose and to reduce unnecessary referrals. For metabolic and genetic specialists especially the indices will be helpful as a quick look when being called for advice. It has all it needs to become a gold standard defining the clinical practice in this field.
