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Newborn screening

Newborn screening for homocystinurias: Recent recommendations versus current practice

Newborn screening for homocystinurias: Recent recommendations versus current practice

... Dietmar Hopp Foundation, St. Leon-Rot, Germany. MR Baumgartner declares that the University Children's Hospital Zurich has received educational and research grants from Actelion, Genzyme and Milupa Metabolics, and ...

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Psychological effects of false-positive results in expanded newborn screening in China.

Psychological effects of false-positive results in expanded newborn screening in China.

... Expanded newborn screening (NBS) using tandem mass spectrometry (MS/MS) to identify more than 30 biochemical genetic disorders is an important advance in early disease ...past screening methods and ...

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Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of carnitine deficiency

Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of carnitine deficiency

... Newborn screening (NBS) by MS/MS started in the 1990s. It has since been demonstrated to be accurate and effective [2] with a clear benefit in countries with a high percentage of Caucasians [17], ...

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Cystic Fibrosis Newborn Screening in Portugal: PAP Value in Populations with Stringent Rules for Genetic Studies

Cystic Fibrosis Newborn Screening in Portugal: PAP Value in Populations with Stringent Rules for Genetic Studies

... Abstract: Newborn screening (NBS) for cystic fibrosis (CF) has been shown to be advantageous for children with CF, and has thus been included in most NBS programs using various ...

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Newborn Screening for Homocystinuria Revealed a High Frequency of MAT I/III Deficiency in Iberian Peninsula

Newborn Screening for Homocystinuria Revealed a High Frequency of MAT I/III Deficiency in Iberian Peninsula

... allows newborn screening (NBS) for homocystinuria, but this method raises two important issues: milder pyridoxine-responsive patients may be missed due to slightly elevated levels of methionine at the ...

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Newborn screening for lysosomal disorders in Brazil: A pilot study using customized fluorimetric assays

Newborn screening for lysosomal disorders in Brazil: A pilot study using customized fluorimetric assays

... A newborn screening pilot program for MPS VI (based on the detection of the common mutation) was introduced in Monte Santo and al- ready tested over 5,000 babies (Bender, ...

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Newborn screening: knowledge and contributions of nursing team / Triagem neonatal: conhecimentos e contribuições da equipe de enfermagem

Newborn screening: knowledge and contributions of nursing team / Triagem neonatal: conhecimentos e contribuições da equipe de enfermagem

... neonatal screening, unaware of the specific diseases (diseases) of each test, and superficially not know specifically about what types of diseases each test ...effective newborn screening, while not ...

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3ß-hydroxysteroid dehydrogenase type II deficiency on newborn screening test

3ß-hydroxysteroid dehydrogenase type II deficiency on newborn screening test

... the Newborn Screening Program in ...in newborn screen- ing tests would aid in determining their reproducibility, as well as the potential significance of moderately elevated 17OHP levels as an early ...

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Newborn screening for biotinidase deficiency in Brazil: biochemical and molecular characterizations

Newborn screening for biotinidase deficiency in Brazil: biochemical and molecular characterizations

... in newborn screening programs, at least 25 countries have included the disorder in their programs ...with screening newborns for biotinidase deficiency from October 1995 to November 1999 in a private ...

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Breastfeeding and the anthropometric profile of children with sickle cell anemia receiving follow-up in a newborn screening reference service

Breastfeeding and the anthropometric profile of children with sickle cell anemia receiving follow-up in a newborn screening reference service

... This is a cross-sectional study carried out between November 2007 and January 2009 in children with Sickle Cell Anemia and Hemoglobin SC disease, regularly monitored at a NSRS in the [r] ...

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Inborn errors of metabolism and expanded newborn screening in Portugal: 2004-2014

Inborn errors of metabolism and expanded newborn screening in Portugal: 2004-2014

... Fatty acid oxidation disorders SCHAD deficiency. *MCAD deficiency *LCHAD deficiency *Propionic aciduria (PA)[r] ...

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Neonatal screening for Severe Combined Immunodeficiency.

Neonatal screening for Severe Combined Immunodeficiency.

... a screening method ...population-based screening(11, 68, ...SCID screening in the USA in 2008(54, 73, ...a screening method(49, 66, 76); the scientific community has accepted it very well as ...

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Survival of a newborn from a pregnant woman with rabies infection

Survival of a newborn from a pregnant woman with rabies infection

... Whereas rabies has a mortality rate of nearly 100 %, China remains a high-risk region for its transmission. During the period from 2006 to 2011, the numbers of deaths due to rabies nationwide in China were 3293, 3303, ...

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Educational animation about home care with premature newborn infants

Educational animation about home care with premature newborn infants

... Objective: to elaborate and validate animation on the care of premature newborn infants at home. Method: Methodological study in three stages: integrative review on home care; animation design based on Roper, ...

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Skin care of the newborn: the state of art

Skin care of the newborn: the state of art

... the newborn, skin assessment, PAT prevention, thermoregulation, use of emollients, bathing, use of antiseptics, adhesives, fixing devices, prevention of pressure ulcers, punctures care and treatment of ...

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Clinical case of an acute nonspecific parotitis at a newborn

Clinical case of an acute nonspecific parotitis at a newborn

... The aim: to study the frequency of birth defects in Perinatal Center of the Saratov region from 2014 till 2015, the possibility of prognosing, early diagnosis and optimization of programs for the prevention and ...

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MR imaging for diagnostic evaluation of encephalopathy in the newborn.

MR imaging for diagnostic evaluation of encephalopathy in the newborn.

... T1-weighted (a) and diffusion-weighted (b) images obtained in a neonate at ap- proximately 30 gestational weeks show multiple bilateral foci of high signal inten- sity due to T1 shorteni[r] ...

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Congenital heart disease in the newborn requiring early intervention

Congenital heart disease in the newborn requiring early intervention

... the newborn baby “not doing well” and having a high index of suspicion, and identifying the need for rapid cardiac evaluation and rule out a serious congenital cardiac problem which needs early ...

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Fostering maternal and newborn care in India the Yashoda way: does this improve maternal and newborn care practices during institutional delivery?

Fostering maternal and newborn care in India the Yashoda way: does this improve maternal and newborn care practices during institutional delivery?

... Providing health care services, especially maternal and newborn care, is increasingly understood to be a dynamic system of entitlement and obligations among people, communities, provid- ers, and governments. The ...

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Criteria for HIV screening programs

Criteria for HIV screening programs

... Since there is no effective treatment for HIV infections, the public health ration- ale for HIV screening programs rests on the premise that identifying infected [r] ...

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