Results 261 to 270 of about 212,548 (293)
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Pathology, 2008
The aim of newborn screening is to detect newborns with serious, treatable disorders so as to facilitate appropriate interventions to avoid or ameliorate adverse outcomes. Mass biochemical testing of newborn babies was pioneered in the 1960s with the introduction of screening for phenylketonuria, a rare inborn error of metabolism, tested by using a ...
Bridget, Wilcken, Veronica, Wiley
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The aim of newborn screening is to detect newborns with serious, treatable disorders so as to facilitate appropriate interventions to avoid or ameliorate adverse outcomes. Mass biochemical testing of newborn babies was pioneered in the 1960s with the introduction of screening for phenylketonuria, a rare inborn error of metabolism, tested by using a ...
Bridget, Wilcken, Veronica, Wiley
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Pediatrics, 1984
To the Editor.— With publication of recommendations on newborn screening by the Committee on Genetics of the American Academy of Pediatrics1 and now similar recommendations by McCabe et al,2 a consensus on realistic procedures for newborn screening is developing.
H L, Levy, M L, Mitchell, S E, Ridley
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To the Editor.— With publication of recommendations on newborn screening by the Committee on Genetics of the American Academy of Pediatrics1 and now similar recommendations by McCabe et al,2 a consensus on realistic procedures for newborn screening is developing.
H L, Levy, M L, Mitchell, S E, Ridley
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Metabolic screening for the newborn
The Journal of Maternal-Fetal & Neonatal Medicine, 2011The advent of tandem mass spectrometry (MS/MS) around 10 years ago allowed to enlarge consistently the spectrum of metabolic diseases that might be easily and quickly detected. MS/MS was applied to newborn screening in many developed countries, with a wide use, to detect as many as 55 abnormal biochemical conditions (USA), or a restricted one detecting
Rossella Parini, Carlo Corbetta
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Clinics in Perinatology, 2015
Newborn screening is a major aspect of public health success. Babies in every state are tested for a recommended uniform screening panel of conditions not otherwise immediately evident in the first days of life. With the goal of reducing morbidity and mortality, conditions should be added to newborn screening panels using a scientific, evidence-based ...
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Newborn screening is a major aspect of public health success. Babies in every state are tested for a recommended uniform screening panel of conditions not otherwise immediately evident in the first days of life. With the goal of reducing morbidity and mortality, conditions should be added to newborn screening panels using a scientific, evidence-based ...
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The Indian Journal of Pediatrics, 2004
Expanded newborn screening (NBS) is aimed for early detection and intervention of treatable inborn errors of metabolism and also to establish incidence of these disorders in this part of the globe. The first expanded NBS programme initiated in the capital city of Andhra Pradesh to screen all the newborns born in four major Government Maternity ...
Shaik Mohammad Naushad +1 more
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Expanded newborn screening (NBS) is aimed for early detection and intervention of treatable inborn errors of metabolism and also to establish incidence of these disorders in this part of the globe. The first expanded NBS programme initiated in the capital city of Andhra Pradesh to screen all the newborns born in four major Government Maternity ...
Shaik Mohammad Naushad +1 more
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Advances in Neonatal Care, 2004
Metabolic disorders are individually rare, but when considered together as a disease entity are relatively frequent, occurring in 1 in 1000 to 1 in 3000 infants. Some disorders can have devastating and irreversible outcomes if not diagnosed early and treated promptly.
Nicola Longo +3 more
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Metabolic disorders are individually rare, but when considered together as a disease entity are relatively frequent, occurring in 1 in 1000 to 1 in 3000 infants. Some disorders can have devastating and irreversible outcomes if not diagnosed early and treated promptly.
Nicola Longo +3 more
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Archives of Pediatrics & Adolescent Medicine, 1982
Sir .—In their article "Newborn Thyroid Screening in a Municipal Hospital" (Journal1982;136:248-250), Harris and Dreyfus pointed out the following problems that arise from the process of recall of newborns with abnormal screening results: the cost of recall of patients in the overall program, the anxiety for individual families, and the success rate in
J. P. Farriaux, Jean Louis Dhondt
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Sir .—In their article "Newborn Thyroid Screening in a Municipal Hospital" (Journal1982;136:248-250), Harris and Dreyfus pointed out the following problems that arise from the process of recall of newborns with abnormal screening results: the cost of recall of patients in the overall program, the anxiety for individual families, and the success rate in
J. P. Farriaux, Jean Louis Dhondt
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Genetic Testing, 2003
Newborn screening aims at the earliest possible recognition of disorders so that intervention with effective treatment can prevent the most serious consequences of the disorder. However, of several thousand known genetic disorders, therapy is presently available for only a small proportion of them. Newborn screening was first applied to phenylketonuria
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Newborn screening aims at the earliest possible recognition of disorders so that intervention with effective treatment can prevent the most serious consequences of the disorder. However, of several thousand known genetic disorders, therapy is presently available for only a small proportion of them. Newborn screening was first applied to phenylketonuria
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The Importance of Newborn Screening
Pediatrics, 2000To the Editor. The commentary by Howse and Katz1 commendably calls for equity in access to newborn screening tests and uniform quality of those tests. However, they miss the mark in downplaying economic and cost-benefit considerations and in stating that “a test (even for a rare disease)—as long [as] its early discovery makes a difference to the ...
Jennifer L. Howse, Michael Katz
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Pediatric Annals, 2003
The advent of expanded newborn screening has resulted in huge advances in the ability to detect presymptomatic infants with a large number of inborn errors of metabolism. Widespread implementation of this type of screening will ultimately lead to reduced mortality and morbidity from these diseases and also will increase our knowledge of the frequency ...
Deborah Marsden, Marsha K Fearing
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The advent of expanded newborn screening has resulted in huge advances in the ability to detect presymptomatic infants with a large number of inborn errors of metabolism. Widespread implementation of this type of screening will ultimately lead to reduced mortality and morbidity from these diseases and also will increase our knowledge of the frequency ...
Deborah Marsden, Marsha K Fearing
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