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Screening for sickle cell disease by point-of-care tests in Italy: pilot study on 1000 at risk children.
Eur J Pediatr
January 2025
Department of Woman, Child and General and Specialized Surgery, University of Campania 'Luigi Vanvitelli', Via Luigi De Crecchio 4, Naples, Italy.
Unlabelled: Sickle cell disease (SCD) is a global health problem causing premature deaths and preventable severe chronic complications. A priority goal to improve outcomes both in the short and long term is the screening for early diagnosis and access to specialized care. In Italy, as in other countries, no systematic national screening program is available.
View Article and Find Full Text PDFBackground: Clinical Hereditary Hemolytic Anemia (HAA) particularly Hereditary Spherocytosis (HS) encompasses diverse genetic disorders causing premature red blood cell destruction and intrinsic RBC defects. There's a pressing need for standardized diagnostic protocols tailored to the Asian population, particularly in Saudi Arabia, underscoring the significance of thorough blood biochemistry analysis.
Materials And Methods: A case-control prospective study was conducted at King Abdulaziz University, samples were obtained from King Fahad, hospital Jeddah, Saudi Arabia, serving a significant population, and blood samples from 27 patients meeting ethical criteria for HHA and HS.
Clinical value of quantitative echocardiographic features in preterm infants with necrotizing enterocolitis.
Sci Rep
January 2025
Department of Neonatology, Children's Hospital of Soochow University, Suzhou, China.
This study investigated the correlation between quantitative echocardiographic characteristics within 3 days of birth and necrotizing enterocolitis (NEC) and its severity in preterm infants. A retrospective study was conducted on 168 preterm infants with a gestational age of < 34 weeks. Patients were categorized into NEC and non-NEC groups.
View Article and Find Full Text PDFPhenotypes, Genotypes, Treatment, and Outcomes of 14 Children with Sitosterolemia at Vietnam National Children's Hospital.
J Clin Med
January 2025
Hanoi Medical University, 1st Ton That Tung Street, Hanoi 11521, Vietnam.
: Sitosterolemia is a rare autosomal recessive disorder characterized by diverse clinical manifestations ranging from asymptomatic cases to the development of xanthomas, hypercholesterolemia, premature atherosclerosis, or even sudden death during childhood. It results from homozygous or compound heterozygous pathogenic variants in the or genes. Prompt detection and intervention are essential to managing this condition and preventing severe outcomes.
View Article and Find Full Text PDFFetal Hemoglobin as a Predictive Biomarker for Retinopathy of Prematurity: A Prospective Multicenter Cohort Study in Portugal.
Biomedicines
January 2025
Ecogenetics and Human Health Unit, Environmental Health Institute (ISAMB), Associate Laboratory TERRA, Faculty of Medicine, University of Lisbon, Av. Professor Egas Moniz, 1649-028 Lisbon, Portugal.
Retinopathy of prematurity (ROP) is a leading cause of vision impairment in preterm infants, with its pathogenesis linked to oxygen exposure. Red blood cell (RBC) transfusions, commonly performed in neonatal intensive care units (NICUs), reduce fetal hemoglobin (HbF) fraction, altering oxygen dynamics and potentially contributing to ROP. We aimed to investigate the relationship between RBC transfusions, HbF percentage, and ROP, evaluating HbF as a potential predictive biomarker.
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