In 2018, Malawi adopted the World Health Organization antenatal care (ANC) recommendation of at least one ultrasound scan (USS) for pregnant women before 24 weeks gestation. A shortage of trained providers and USS machines, however, has significantly hindered implementation. A qualitative study explored diverse stakeholder perspectives on integrating USS into ANC services through task-sharing with […]
Multi-polygenic scores for externalizing behavior in schoolchildren
Background: Externalizing behavior refers to emotional and behavioral problems or disorders characterized by conducts directed outward at an individual’s environment. Polygenic scores (PGSs) indexing the individual genetic susceptibility for this behavior still explain a small proportion of the phenotypic variance. To increase this phenotypic variance explained for externalizing behavior we used a multi-PGS approach combining […]
Estimating geographic access to health care services for children unvaccinated against diphtheria, tetanus, pertussis across low- and middle-income countries in 2021
Achieving routine immunization for all children remains a major challenge in many low- and middle-income countries. In 2021, 18.1 million children globally missed their first dose of the diphtheria-tetanus-pertussis vaccine (DTP1), highlighting gaps in immunization and healthcare services. The Global Immunization Agenda 2030 aims for 90% coverage of essential childhood and adolescent vaccines and a […]
Does more data solve the problem of deep support? A phylogenomic approach to clarifying evolutionary relationships in the Lecanoraceae
The family Lecanoraceae is one of the most diverse groups within Lecanoromycetes, yet its internal relationships have remained unresolved despite previous multilocus studies. Here we present the first phylogenomic reconstruction of the family, based on 1003 nuclear orthologous genes from 65 genome assemblies representing the major species groups and genera. Phylogenetic trees inferred from coalescent-based […]
CIZ1-LOSS CAUSES FEMALE-SPECIFIC AUTOSOMAL NEURODEVELOPMENTAL DISORDER THROUGH DEFECTIVE X-INACTIVATION MAINTENANCE
We report an autosomal recessive neurodevelopmental disorder exclusively affecting females carrying biallelic loss-of-function variants in CIZ1, a gene encoding a nuclear matrix protein essential for the maintenance of X-chromosome inactivation. Eight unrelated affected females were identified, whereas male siblings with biallelic variants were asymptomatic. We showed that loss of CIZ1 compromises the maintenance of X-chromosome […]
Genome-Wide Association Study of Genetic Variants Associated with Lower Extremity Amputation Risk in Peripheral Artery Disease
Peripheral artery disease (PAD) is a global health burden affecting over 200 million individuals and is frequently complicated by limb-threatening ischemia, leading to major amputations. Despite known clinical risk factors, the genetic basis underlying amputation risk in PAD remains poorly defined. In this study, we performed a multi-pronged genome-wide association study (GWAS) to identify genetic […]
Quality of maternal and newborn care, perinatal mental health and the emotional birth experience of women: findings of the IMAgiNE EURO study in Belgium
ABSTRACT Background In Belgium, maternal and newborn health indicators indicate high quality of care compared to other countries of Europe. However, some challenges still persist in the quality of maternal and newborn care (QMNC) and little is known regarding women’s experience with care and their mental health (MH). Methods We conducted a cross-sectional survey among […]
Stakeholder Perspectives on the Adaptability of Hospital Drug Formularies to Disease Patterns: A Modified Q-Methodology Study in Vietnam
Background Hospital drug formularies function within Complex Adaptive Systems (CAS), where the alignment between drug supply and disease patterns is critical for patient care and cost-effectiveness. However, measuring this adaptability is challenging due to conflicting priorities among stakeholders and a lack of standardized assessment tools. Objectives This study aims to analyze the perspectives of three […]
Uncovering Multi-Omics Profiles of Population Heterogeneity: A Cluster-Based Bayesian Approach
Understanding the heterogeneous nature of genetic effects is critical for advancing our knowledge of the genetic architecture of complex traits and developing personalized management strategies. However, existing methods often rely on pre-specified modifying variables to model this heterogeneity, limiting their ability to capture effects driven by complex or unobserved factors. Here, we propose MOCHA (Multi-Omics […]
Using the Social Ecological Model to explore policy and institutional aspects of the school environment in relation to healthy eating and physical activity: An audit of female-only high schools in the Kingdom of Saudi Arabia.
Objective: In the Kingdom of Saudi Arabia (KSA), non-communicable diseases (NCDs) cause 73% of deaths, with high body mass index (BMI) as the leading risk factor. Among adolescents, 79% reported physical inactivity (PA), 30% and 10% were living with overweight/obesity and prediabetes, respectively. Little is known about the influence of school environments in shaping healthy […]