Critical congenital heart disease screening by pulse oximetry in a neonatal intensive care unit. [PDF]
, 2014 ObjectiveCritical congenital heart disease (CCHD) screening is effective in asymptomatic late preterm and term newborn infants with a low false-positive rate (0.035%).
Carrion, V +3 more
core +5 more sources
Treatment algorithm for infants diagnosed with spinal muscular atrophy through newborn screening [PDF]
, 2018 Spinal muscular atrophy (SMA) is an autosomal recessive disease characterized by the degeneration of alpha motor neurons in the spinal cord, leading to muscular atrophy.
Connolly, Anne +14 more
core +2 more sources
Haemoglobinopathies and newborn haemoglobinopathy screening in Germany. [PDF]
, 2009 Germany has been an immigration country since the early 1950s. In December 2007, 6.7 million non-German citizens lived in the country. However, the total number of citizens with a migration background is 15–20 million, about 9 million of whom come ...
Dickerhoff, R. +2 more
core +1 more source
Informed choice and public health screening for children: the case of blood spot screening [PDF]
, 2005 Objective: To examine parents' and health professionals' views on informed choice in newborn blood spot screening, and assess information and communication needs. Design and participants: A qualitative study involving semi-structured telephone interviews
Hargreaves, Katrina +2 more
core +3 more sources
The health system impact of false positive newborn screening results for medium-chain acyl-CoA dehydrogenase deficiency: A cohort study [PDF]
, 2016 Background - There is no consensus in the literature regarding the impact of false positive newborn screening results on early health care utilization patterns. We evaluated the impact of false positive newborn screening results for medium-chain acyl-CoA
Aizeddin Mhanni +23 more
core +2 more sources
A novel haemoglobin variant mimicking cyanotic congenital heart disease [PDF]
, 2016 Screening for critical congenital heart defects in newborn babies can aid in early recognition, with the prospect of improved outcome. However, as this universal newborn screening is implemented, there will be an increasing number of false-positive ...
Abecasis, F +3 more
core +2 more sources
Newborn screening for spinal muscular atrophy : the views of affected families and adults [PDF]
, 2017 Spinal muscular atrophy (SMA) is one of the leading genetic causes of infant death worldwide. However, due to a lack of treatments, SMA has historically fallen short of Wilson-Jungner criteria.
Boardman, Felicity K. +2 more
core +1 more source
Economics of tandem mass spectrometry screening of neonatal inherited disorders [PDF]
, 2006 Objectives: The aim of this study was to evaluate the cost-effectiveness of neonatal screening for phenylketonuria (PKU) and medium-chain acyl-coA dehydrogenase (MCAD) deficiency using tandem mass spectrometry (tandem MS). Methods: A systematic review
Beverley, C. +4 more
core +1 more source
Neonatal cytokines and chemokines and risk of Autism Spectrum Disorder: the Early Markers for Autism (EMA) study: a case-control study. [PDF]
, 2014 BackgroundBiologic markers of infection and inflammation have been associated with Autism Spectrum Disorders (ASD) but prior studies have largely relied on specimens taken after clinical diagnosis.
Ashwood, Paul +8 more
core +3 more sources
FEBS Letters, EarlyView.Three‐dimensional (3D) biological systems have become key tools in lymphoma research, offering reliable in vitro and ex vivo platforms to explore pathogenesis and support precision medicine. This review highlights current 3D non‐Hodgkin lymphoma models, detailing their features, advantages, and limitations, and provides a broad perspective on future ...
Carla Faria +3 more
wiley +1 more source