نتایج جستجو برای: newborn screening
تعداد نتایج: 275700 فیلتر نتایج به سال:
S. Abhyankar, B. Therrell, R. Eaton, C. Cuthbert, J. Ojodu, S. Copeland, R. Goodwin, C. McDonald 1 National Library of Medicine, NIH, Bethesda, MD, National Newborn Screening and Genetics Resource Center, Austin, TX, New England Newborn Screening Program, University of Massachusetts Medical School, Jamaica Plain, MA, Newborn Screening and Molecular Biology Branch, CDC, Atlanta, GA, Association ...
Mr Hoffman is the Manager of the Newborn Screening Laboratory. Dr Laessig is the Director of the Wisconsin State Laboratory of Hygiene. Please direct correspondence to Gary Hoffman, Wisconsin State Laboratory of Hygiene, 465 Henry Mall, Madison, WI 53706; 608.262.4692; [email protected]. ABSTRACT The Newborn Screening Laboratory at the Wisconsin State Laboratory of Hygiene (WSLH) tests ...
Newborn screening for cystic fibrosis offers the opportunity for early intervention and improved outcomes. This summary, resulting from a workshop sponsored by the Cystic Fibrosis Foundation to facilitate implementation of widespread high quality cystic fibrosis newborn screening, outlines the steps necessary for success based on the experience of existing programs. Planning should begin with a...
OBJECTIVES The purposes of the study were to describe and to analyze the types of policies and practices that exist currently among state newborn screening programs in relation to long-term follow-up oversight and activities for newborns with confirmed disorders and to examine the perceptions of newborn screening program leaders regarding long-term follow-up activities. METHODS A 23-question ...
CONTEXT Tandem mass spectrometry now allows newborn screening for more than 20 biochemical genetic disorders. Questions about the effectiveness and risks of expanded newborn screening for biochemical genetic disorders need to be answered prior to its widespread acceptance as a state-mandated program. OBJECTIVES To compare newborn identification by expanded screening with clinical identificati...
INTRODUCTION Newborn hearing screening has as its main objective the early identification of hearing loss in newborns and infants. In order to guarantee good results, quality indicators for newborn hearing screening programs are used as benchmarks. OBJECTIVE To observe and describe the reality of national newborn hearing screening programs in Brazil, and to evaluate if they can be referred to...
Newborn screening is important for the early detection of many congenital genetic and metabolic disorders, aimed at the earliest possible recognition and management of affected newborns, to prevent the morbidity, mortality, and disabilities associated with an inherited metabolic disorder. This comprehensive system includes; testing, education, follow up, diagnosis, treatment, management, and ev...
BACKGROUND As outlined in the Newborn Screening Task Force report published in August 2000, the newborn screening system is more than just testing, but also involves follow-up, diagnosis, treatment, and evaluation. As such, multiple professional and public partners need to be adequately involved in the system to help ensure success. In addition, newborn screening programs are state-based; there...
Whole-genome and whole-exome sequencing for clinical applications is now an integral part of medical genetics practice. The term newborn screening refers to public health programs designed to screen newborns for various treatable metabolic conditions, by measuring levels of circulating blood metabolites. The availability and significant decrease in sequencing costs has raised the question of wh...
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