Results 101 to 110 of about 1,360,274 (268)
Clinical Endocrinology, EarlyView.ABSTRACT Objective To evaluate methods used to assess individual iodine status in infants under 2 years of age and to examine their clinical utility in relation to thyroid dysfunction across different clinical contexts. Design The protocol was registered on PROSPERO and followed PRISMA guidelines.
Sabrina Bilston‐John +3 more
wiley +1 more source
Newborn Screening for Gaucher Disease: Parental Stress and Psychological Burden
International Journal of Neonatal ScreeningIn the last few decades, neonatal screening (NBS) has expanded to include lysosomal storage diseases, allowing for the early identification of both symptomatic and asymptomatic cases. However, neonatal diagnosis of late-onset disorders can cause parental
C. Cazzorla +10 more
semanticscholar +1 more source
Universal neonatal hearing screening moving from evidence to practice
, 2004 Recent technological advances have made feasible universal newborn hearing screening and therefore early detection of permanent childhood hearing impairment.
Kennedy, Colin R. +4 more
core +1 more source
Cerebral Ventriculomegaly With Abnormality of the Aqueduct of Sylvius: A Case Series
Clinical Genetics, EarlyView.Genetic testing leads to a diagnostic rate of ~30% in a fetal cohort with cerebral ventriculomegaly where the neuropathological examination revealed a stenosis or atresia of the aqueduct of Sylvius. ABSTRACT Fetal cerebral ventriculomegalies are brain anomalies with potentially poor neurodevelopmental prognosis.
Romain Nicolle +20 more
wiley +1 more source
Frontiers in Public HealthIntroductionThis paper explores racial and socioeconomic disparities in newborn screening (NBS) policies across the United States. While inter-state inequality in healthcare policies is often considered a meaningful source of systemic inequity in ...
Shanaya Bedford, Karl Vachuska
doaj +1 more source
Newborn screening and the screening laboratory: past, present and future
European Thyroid JournalThyroid hormone (TH) is essential for brain development in utero and during the first 2 to 3 years of life. The negative effects of TH deficiency on brain development are irreversible.
A. Boelen, A. Heijboer
semanticscholar +1 more source
Footnotes : S.C. DHEC newborn screening newsletter [PDF]
, 2021 These publications will include helpful tips for specimen collection, submission, follow-up contact information for DHEC NBS staff, and an educational section on specific disorders found on the newborn screening ...
South Carolina Department of Health and Environmental Control
core
Children &Society, EarlyView.ABSTRACT The capabilities approach has informed policy globally, shifting focus away from traditional economic indicators and toward improving people's freedoms and opportunities to be and do what they value in life. However, there is limited research engaging children in conceptualising and measuring capabilities that are important to them for a ‘good’
Gerard Joseph Abou Jaoude +8 more
wiley +1 more source
Inequities in newborn screening: Race and the role of medicaid☆
SSM: Population Health, 2019 Newborn Screening (NBS) is a State-run program that mandates all newborns to be screened for a panel of medical conditions to reduce infant mortality and morbidity. Medicaid is a public health insurance program that expanded access to care for low-income
Heeju Sohn, Stefan Timmermans
doaj +1 more source
Outcomes of a Pilot Newborn Screening Program for Spinal Muscular Atrophy in the Valencian Community
International Journal of Neonatal ScreeningSpinal muscular atrophy (SMA) is a degenerative neuromuscular condition resulting from a homozygous deletion of the survival motor neuron 1 (SMN1) gene in 95% of patients. A timely diagnosis via newborn screening (NBS) and initiating treatment before the
Alba Berzal-Serrano +7 more
semanticscholar +1 more source