The impact of hemoglobinopathies on healthcare in the United States, particularly sickle cell disease (SCD), has been significant. Enactment of the Sickle Cell Anemia Control Act in 1972 significantly increased the federal interest in the SCDs and other hemoglobinopathies. Only since May 1, 2006, have all states required and provided universal newborn screening for SCD despite a national recommendation to this effect in 1987. In this article, we review the history of screening for SCD and other hemoglobinopathies, along with federal and state activities that have contributed to improved health outcomes for patients with SCD, as well as current newborn screening practices. We also chronicle the federal activities that have helped to shape and to refine laboratory screening and diagnostic proficiency. Finally, we review molecular testing strategies that have evolved and outline their possible future impacts on disease detection and outcome improvement.
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http://dx.doi.org/10.1053/j.semperi.2009.12.006 | DOI Listing |
BMJ Open Ophthalmol
December 2024
Ophthalmology, Royal Hospital for Children, Glasgow, UK.
Background: Very premature infants screened for retinopathy of prematurity (ROP) that do not develop ROP still experience serious visual developmental challenges, and while it is recommended that all children in the UK are offered preschool visual screening, we aimed to explore whether this vulnerable group requires dedicated follow-up.
Methods: We performed a real-world retrospective observational cohort study of children previously screened for ROP in NHS Greater Glasgow and Clyde (Scotland) between 2013 and 2015. We excluded those with any severity of ROP identified during screening.
J Clin Med
December 2024
Department of Neonatology, Faculty of Medicine, Ludwik Rydgier Collegium Medicum in Bydgoszcz, Nicolaus Copernicus University in Torun, Ujejskiego 75, 85-168 Bydgoszcz, Poland.
Neonatal sepsis, a severe infection in newborns, remains one of the leading causes of morbidity and mortality among preterm infants. This study aimed to investigate the distribution of pathogens responsible for early-onset sepsis (EOS) and late-onset sepsis (LOS), the annual variability of pathogens responsible for each type of infection, and potential trends in their profiles in preterm infants from a tertiary care neonatal intensive care unit over a ten-year period. We analyzed 177 episodes of confirmed bloodstream infection between 1 January 2014 and 31 December 2023.
View Article and Find Full Text PDFInt J Mol Sci
December 2024
Institute of Neurology, Department of Medical and Surgical Sciences, University Magna Graecia, 88100 Catanzaro, Italy.
Pathogenic variants are associated with neonatal epilepsies, ranging from self-limited neonatal epilepsy to -developmental and epileptic encephalopathy (DEE). In this study, next-generation sequencing was performed, applying a panel of 142 epilepsy genes on three unrelated individuals and affected family members, showing a wide variability in the epileptic spectrum. The genetic analysis revealed two likely pathogenic missense variants (c.
View Article and Find Full Text PDFTrends Mol Med
January 2025
MDUK Oxford Neuromuscular Centre, Department of Paediatrics, University of Oxford, Oxford, OX3 9DU, UK; NIHR Oxford Biomedical Research Centre, Oxford, OX3 9DU, UK; Neuromuscular Centre, Division of Paediatrics, University Hospital of Liège and University of Liège, 4000, Liège, Belgium. Electronic address:
Spinal muscular atrophy (SMA) is a devastating, degenerative, paediatric neuromuscular disease which until recently was untreatable. Discovery of the responsible gene 30 years ago heralded a new age of pioneering therapeutic developments. Three disease-modifying therapies (DMTs) have received regulatory approval and have transformed the disease, reducing disability and prolonging patient survival.
View Article and Find Full Text PDFOphthalmology
January 2025
Department of Ophthalmology, Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA. Electronic address:
Purpose: To assess the utility of the first or second examinations for retinopathy of prematurity (ROP) in a medium-risk cohort of infants and to propose an optimization to the current ROP screening guidelines.
Design: Retrospective consecutive study.
Subjects: Infants screened for ROP between January 2017 and August 2023 at three different tertiary-level care neonatal intensive care units.
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