Activity

Preterm birth (PTB), a pressing issue for US maternal-child health, disproportionately impacts women in Appalachia. Transvaginal ultrasound (TVU) cervical length (CL) screening is the most accurate PTB risk predictor but remains underutilized. This study characterizes the knowledge, attitudes and beliefs of patients with prior PTB concerning PTB prevention efforts and TVU CL screening.

Participants were recruited from community-based health centers in Appalachian Kentucky. Semi-structured interviews and likert-scale surveys were conducted with 22 pregnant women with a history of spontaneous PTB. Methods for data collection were guided by the Consolidated Framework for Implementation Research (CFIR).

Most participants reported that TVU was uncomfortable, but none refused it. Most women were able to articulate the benefits of TVU, but several had concerns about its safety in pregnancy. Participants suggested that pregnant women receive more PTB education and self-advocate. selleck inhibitor They urged providers to take patient concerns seriously, and better educate patients on PTB risks and TVU safety.

Our study contributes crucial insights about the experience of a vulnerable population as it pertains to PTB prevention and the uptake of TVU CL screening. Our findings emphasize the need for increased efforts to better educate patients on the impact of prematurity and the safety and benefits of TVU CL screening as an evidence-based strategy for PTB prevention.

Our study contributes crucial insights about the experience of a vulnerable population as it pertains to PTB prevention and the uptake of TVU CL screening. Our findings emphasize the need for increased efforts to better educate patients on the impact of prematurity and the safety and benefits of TVU CL screening as an evidence-based strategy for PTB prevention.

Pre-eclampsia (PE) is a dangerous placental condition that can lead to premature labour, seizures and death of mother and infant. Several studies have identified altered placental DNA methylation in PE; however, there is widespread inconsistency between studies and most findings have not been replicated. This study aimed to identify and validate consistent differences in methylation across multiple PE cohorts.

Seven publicly available 450K methylation array datasets were analysed to identify consistent differentially methylated positions (DMPs) in PE. DMPs were identified based on methylation difference (≥10%) and significance (p-value≤1×10

). Targeted deep bisulfite sequencing was then performed to validate a subset of DMPs in an additional independent PE cohort.

Stringent analysis of the seven 450K datasets identified 25 DMPs (associated with 11 genes) in only one dataset. Using more relaxed criteria confirmed 19 of the stringent 25 DMPs in at least four of the remaining six datasets. Targeted deep bisulfite sequencing of eight DMPs (associated with three genes; CMIP, ST3GAL1 and DAPK3) in an independent PE cohort validated two DMPs in the CMIP gene. Seven additional CpG sites in CMIP were found to be significantly differentially methylated in PE.

The identification and validation of significant differential methylation in CMIP suggests that the altered DNA methylation of this gene may be associated with the pathogenesis of PE, and may have the potential to serve as diagnostic biomarkers for this dangerous condition of pregnancy.

The identification and validation of significant differential methylation in CMIP suggests that the altered DNA methylation of this gene may be associated with the pathogenesis of PE, and may have the potential to serve as diagnostic biomarkers for this dangerous condition of pregnancy.

Analyzing parents’ and physicians’ opinions regarding phone-based encounters in emergency shifts of a French pediatric epilepsy center compared to traditional face-to-face encounters during the first lockdown of the COVID-19 pandemic METHODS Prospective monocentric study on remote encounters at Necker rare epilepsy reference center from March 20th, 2020 to April 23rd, 2020 due to lockdown measures. This study was conducted with a survey based on 5-point Likert scales (LS

) designed for both parents and physicians. We compared first versus follow-up encounters as well as physicians’ and parents’ opinions.

We had a total of 224 responses, among which 204 were completed by physicians (91%) and 173 (84,4%) by parents. Twenty five were first encounters (14,2%). Physicians pointed out the need for clinical examination (42.6%), mainly for first encounters (p=0.0004). Physicians rated the quality of communication lower (p=0.003) as their capacity to answer parents’ questions (p=0.004). They were significantly less satisfied with remote encounters compared to parents (p<10

). We identified six urgent (2.9%) and 50 semi-urgent (24%) situations requiring programming face-to-face encounter during or shortly after the lockdown.

Remote encounters could be a helpful practice for pediatric patients with epilepsy in emergency situations such as pandemics. It allowed the identification and prioritization of emergency situations. Physicians were less positive than parents. We raised the possible use of remote encounters in association to face-to-face encounters for routine follow-up of pediatric patients with epilepsy.

Remote encounters could be a helpful practice for pediatric patients with epilepsy in emergency situations such as pandemics. It allowed the identification and prioritization of emergency situations. Physicians were less positive than parents. We raised the possible use of remote encounters in association to face-to-face encounters for routine follow-up of pediatric patients with epilepsy.

CACNA1H is regarded as a gene conferring susceptibility to generalised epilepsy. However, the prognosis of epilepsy patients carrying the CACNA1H missense variants of uncertain significance (VUS) is unknown. A prospective cohort was generated to determine the deleterious effects of these variants and to check whether the presence of these variants affects the prognosis of epilepsy patients.

This study was conducted at Xijing Hospital in Xian, China. All patients were followed up for at least 1 year. Previous reports were searched for previously reported variants. Ensembl database was searched for variants in the general population. Combined Annotation Dependent Depletion (CADD) was used to evaluate the deleterious effect of variants. Logistic regression and Cox regression were used for data analysis.

The study included 176 epilepsy patients with or without CACNA1H variants. In epilepsy patients with missense variants, we found 35 different variants, including 33 variants with uncertain significance and 2 likely benign variants.