This study reports the ocular and neurologic outcomes at 3 years of age of preterm children with mild or no retinopathy of prematurity (ROP). We were able to compile data from the medical records of 119 out of 585 (20.3%) children with mild and no ROP, who were screened between March 1999 and March 2012. There were 52 children with mild ROP and 67 with no ROP. In terms of ROP-related risk factors, the mild ROP and no ROP groups showed significant differences in birth weight (p<0.001) and gestational age (p<0.001), as well as in the presence of mechanical ventilation (p=0.04), respiratory distress syndrome (p=0.003), blood transfusion (p=0.006) and sepsis (p=0.024). However, both groups seemed identical in terms of the distribution of refractive errors, presence of strabismus, presence of unfavorable structural or functional outcome, and presence of neurologic sequelae. In particular, the high incidence of neurologic morbidity (100%) in subjects with very poor vision suggested a clear correlation.
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Introduction Acute poisoning in children is still a global health concern that necessitates visiting the emergency department that might associated with morbidity and mortality. It has an impact on social, economic, and health issues, particularly for children under five who account for the majority of poisonings worldwide. Poisoning can result in mild cases, serious complications, or even death; oral ingestion is the most common way that poisoning occurs in children.
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January 2025
Department of Pediatric Nephrology, Children's Hospital of Hebei Province Affiliated to Hebei Medical University, Shijiazhuang, China.
Background: Primary coenzyme Q10 (CoQ10) deficiency is an autosomal recessive genetic disease caused by mitochondrial dysfunction. Variants in Coenzyme Q8B () can cause primary CoQ10 deficiency. -related glomerulopathy is a recently recognized glomerular disease that most often presents as steroid-resistant nephrotic syndrome (SRNS) in childhood.
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January 2025
Department of Clinical Research, Faculty of Health sciences, University of Southern Denmark, Odense, Denmark.
Introduction: A main feature of CDH is lung hypoplasia and the related presentation of pulmonary hypertension and cardiac dysfunction. Multiple factors influence pulmonary status after CDH: degree of hypoplasia, ventilator-induced injury, altered growth and development of pulmonary structures, reduced diaphragm function and chest wall abnormalities. The evolution of pulmonary sequela in this population is still unclear.
View Article and Find Full Text PDFAm J Med Genet A
January 2025
Department of Pediatrics, University of Connecticut School of Medicine, Farmington, Connecticut, USA.
P21-activated kinase 2 (PAK2) is a serine/threonine kinase essential for a variety of cellular processes including signal transduction, cellular survival, proliferation, and migration. A recent report proposed monoallelic PAK2 variants cause Knobloch syndrome type 2 (KNO2)-a developmental disorder primarily characterized by ocular anomalies. Here, we identified a novel de novo heterozygous missense variant in PAK2, NM_002577.
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January 2025
Faculty of Environmental and Life Sciences, Centre for Innovation in Mental Health, School of Psychology, University of Southampton, Southampton, UK.
Background: Raynaud syndrome (RS) is a peripheral vasculopathy characterised be impaired acral perfusion typically manifesting as skin discolouration with pallor, cyanosis and/or erythema, and increased sensitivity to cold. RS may be primary or secondary to systemic disease, lifestyle and environmental factors or medication. RS has been reported with medication to treat ADHD, but we found no recent comprehensive overview of the literature.
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