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Haplotype-Resolved Genotyping and Association Analysis of 1,020 β-Thalassemia Patients by Targeted Long-Read Sequencing.
Adv Sci (Weinh)
December 2024
Innovation Center for Diagnostics and Treatment of Thalassemia, Nanfang Hospital, Southern Medical University, Guangzhou, Guangdong, 510515, China.
Despite the well-documented mutation spectra of β-thalassemia, the genetic variants and haplotypes of globin gene clusters modulating its clinical heterogeneity remain incompletely illustrated. Here, a targeted long-read sequencing (T-LRS) is demonstrated to capture 20 genes/loci in 1,020 β-thalassemia patients. This panel permits not only identification of thalassemia mutations at 100% of sensitivity and specificity, but also detection of rare structural variants (SVs) and single nucleotide variants (SNVs) in modifier genes/loci.
View Article and Find Full Text PDFHidden Causes of Variation in Offspring Reproductive Value: Negative Effects of Maternal Breeding Age on Offspring Telomere Length Persist Undiminished Across Multiple Generations.
Ecol Lett
January 2025
School of Biodiversity, One Health and Veterinary Medicine, University of Glasgow, Glasgow, UK.
Offspring of older breeders frequently show reduced longevity, which has been linked to shorter offspring telomere length. It is currently unknown whether such telomere reduction persists beyond a single generation, as would be the case if germline transmission is involved. In a within-grandmother, multi-generational study using zebra finches, we show that the shorter telomeres observed in F1 offspring of older mothers are still present in the F2 generation even when the breeding age of their F1 mothers is young.
View Article and Find Full Text PDFSpatial variation and associated factors of home delivery among reproductive age group women in Ethiopia, evidence from Performance Monitoring for Action Ethiopia Survey 2019, spatial and multilevel logistic regression analysis.
Front Glob Womens Health
December 2024
Department of Health System and Management, School of Public Health, College of Medicine and Health Sciences, Wollo University, Dessie, Ethiopia.
Introduction: Home birth is described as a delivery that takes place at home without the presence of a skilled birth attendant. In 2017, nearly 295,000 mothers died from various pregnancy and childbirth-related problems, accounting for approximately 810 maternal deaths per day. Therefore, this study aims to investigate the spatial distributions of home birth and associated factors in Ethiopia using the Performance Monitoring for Action Survey (PMAS) 2019) to get information that helps to take geographic-based interventions and can assist health planners and policymakers in developing particular measures to reduce home deliveries.
View Article and Find Full Text PDFIntroduction Respiratory distress syndrome (RDS) is a leading cause of morbidity and mortality among preterm infants, necessitating effective treatment strategies. This study compared the efficacy of Beractant (SURVANTA®) to Poractant alfa (CUROSURF®) in treating RDS in preterm infants admitted to Tawam Hospital in the UAE. Methodology This retrospective study included preterm infants from 23+0 to 36+6 weeks of gestation with a diagnosis of RDS and treatment by Beractant or Poractant alfa within 48 hours of life between January 2020 and March 2023.
View Article and Find Full Text PDFAddressing Known hypertensive disOrders of pregnancy in woMen of African descent in Canada (AKOMA): protocol for a mixed method study.
Front Cardiovasc Med
December 2024
Lawrence Bloomberg Faculty of Nursing, University of Toronto, Toronto, ON, Canada.
Background: Hypertensive disorders of pregnancy (HDP) predispose a woman to maternity-related cardiovascular morbidity and mortality. However, there is limited literature on HDP among women of African descent in Canada.
Methods And Design: A convergent mixed-method study will be used to investigate the intersection of self-reported HDP risks in women of African descent in Canada with a history of a HDP (quantitative, cross-sectional survey) and explore the perception and experiences of women of African descent living in Canada with a history of a HDP in relation to the intersection of risk factors (critical qualitative inquiry, interviews).
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