Utilization and determinants of maternity waiting homes among pastoralist mothers in Dire district, southern Ethiopia: a mixed-methods study.

Background: Maternity waiting homes are cost-effective, World Health Organization-approved components of comprehensive prenatal, delivery, and postpartum care strategies. However, few community-based studies within Ethiopia's pastoralist communities, and none in the study area, have been conducted to determine actual usage or to gain a thorough understanding of the factors influencing utilization.

Methods: A cross-sectional study, supplemented by qualitative methods, was conducted from June 25 to July 25, 2023.

Genotype-Phenotype Comparison in POGZ-Related Neurodevelopmental Disorders by Using Clinical Scoring.

-related disorders (also known as White-Sutton syndrome) encompass a wide range of neurocognitive abnormalities and other accompanying anomalies. Disease severity varies widely among patients and studies investigating genotype-phenotype association are scarce. Therefore, our aim was to collect data on previously unreported patients and perform a large-scale phenotype-genotype comparison from published data.

Singleton exome sequencing of 90 fetuses with ultrasound anomalies revealing novel disease-causing variants and genotype-phenotype correlations.

Exome sequencing has been increasingly implemented in prenatal genetic testing for fetuses with morphological abnormalities but normal rapid aneuploidy detection and microarray analysis. We present a retrospective study of 90 fetuses with different abnormal ultrasound findings, in which we employed the singleton exome sequencing (sES; 75 fetuses) or to a lesser extent (15 fetuses) a multigene panel analysis of 6713 genes as a primary tool for the detection of monogenic diseases. The detection rate of pathogenic or likely pathogenic variants in this study was 34.

A novel cryptic splice site mutation in as a cause of osteogenesis imperfecta.

Osteogenesis imperfecta (OI) is an inherited genetic disorder characterized by frequent bone fractures and reduced bone mass. Most cases of OI are caused by dominantly inherited heterozygous mutations in one of the two genes encoding type I collagen, and . Here we describe a five-year-old boy with typical clinical, radiological and bone ultrastructural features of OI type I.

Case Report and Review of the Literature: A New and a Recurrent Variant in the Gene Are Associated With Isolated Lethal Hypertrophic Cardiomyopathy, Hyperlactatemia, and Pulmonary Hypertension in Early Infancy.

Mitochondriopathies represent a wide spectrum of miscellaneous disorders with multisystem involvement, which are caused by various genetic changes. The establishment of the diagnosis of mitochondriopathy is often challenging. Recently, several mutations of the gene encoding the mitochondrial valyl-tRNA synthetase were associated with early onset encephalomyopathies or encephalocardiomyopathies with major clinical features such as hypotonia, developmental delay, brain MRI changes, epilepsy, hypertrophic cardiomyopathy, and plasma lactate elevation.