COVID-19 Omicron variant infection has minimal impact on maternal and neonatal outcomes: A cross-sectional cohort study.

AIM: To explore the impact of the Omicron variant on maternal and neonatal outcomes. DESIGN: Cross-sectional cohort study of women giving live birth in a single hospital in Shanghai in December 2022. METHODS: Demographic characteristics, maternal and neonatal outcomes and laboratory testing results were retrieved from medical records. Propensity score matching was used to match COVID-19-positive and -negative women. Differential analysis was used to assess associations between COVID-19 and in-hospital maternal and neonatal outcomes. RESULTS: A total of 1508 women were included, comprising 729 natural births, 741 caesarean sections and 38 forceps deliveries. After 1:1 matching, 310 clients were included for analysis with each 155 in COVID-19-positive and -negative groups. Higher maternal fever was found in all modes of delivery, and higher preterm birth and lower pH value of blood gas of the umbilical artery in the vaginal delivery subgroup (p < 0.05). Other maternal and neonatal outcomes showed no significant difference between COVID-19-positive and -negative clients.

A heterozygous pathogenic variant in the ATP6V1A gene triggering epilepsy in a large Chinese pedigree.

Epilepsy is one of the most common disorders in children, with an incidence rate of approximately 5%. Although an increasing number of genes have been demonstrated to be pathogenic factors in epilepsy, evidence for a potential pathogenic role of ATP6V1A remains limited. Herein, the clinical and genetic data of a 5-year-old boy who experienced seizures at 9 months of age are collected. Genetic variants are screened using whole-exome sequencing (WES), and the effects of the candidate variants are further validated at both the RNA and protein levels. WES reveals a heterozygous variant [NM_001690.4: c .1132 C>T, p.Leu378Phe] of the ATP6V1A gene. This variant is not reported in the public database, but is predicted to be deleterious by multiple software packages, and classified as a variant of unknown significance following the American College of Medical Genetics and Genomics guidelines. Quantitative PCR and western blotting further confirm its down-regulatory role in both the RNA and protein expression of ATP6V1A. This case report confirms the pathogenicity of ATP6V1A in epilepsy with solid experimental evidence, thereby expanding the phenotype spectrum of ATP6V1A variants. More importantly, we show that seizures triggered by ATP6V1A variants could be controlled by Levetiracetam, crucially rescuing the development of the patient.