Knowledge, attitudes, and practices regarding preconception or early pregnancy single-gene genetic disease screening among reproductive-aged individuals.

Background: This study aimed to assess the knowledge, attitudes, and practices (KAP) regarding preconception or early pregnancy single-gene genetic disease screening among individuals in early pregnancy or preparing for pregnancy.

Methods: A cross-sectional survey was conducted from April 1, 2024, to June 30, 2024, using a validated, self-designed questionnaire which was distributed online to collect data on participants' demographic information and KAP scores.

Results: A total of 562 valid questionnaires were obtained, with 397 (70.

A framework for parsing psychopathological heterogeneity: initial application in a large-scale unselected community sample.

Background: Traditional descriptive nosology arbitrarily distinguishes between mental illness and health, hindering the progress of scientific research and clinical practice. Building on recent advancements in psychiatric conceptualization, this study proposes an innovative phased framework for deconstructing psychopathological heterogeneity. The framework involves four key steps: extraction of symptom dimensions, identification of psychopathological subtypes, characterization of symptom interaction patterns using a network approach, and validation of their incremental validity through links to neurobehavioral functions.

Effects of Lead Exposure on 1573 Male Workers' Sex Hormones in China.

Lead (Pb) is recognized as an environmental pollutant with male reproductive toxicity, but its effects on sex hormones remain unclear. This study investigated the relationship between male blood lead levels (BLLs) and the sex hormones of luteinizing hormone (LH), follicle-stimulating hormone (FSH), and prolactin (PRL), as well as testosterone (T), estrogen (E2), and progesterone (PROG). Observational and experimental data from 1573 Pb-exposed workers (712 had also been surveyed in the previous year) and 35 Pb-poisoned patients (before and after Pb chelation therapy) were analyzed.

Effective detection of 148 cases chromosomal mosaicism by karyotyping, chromosomal microarray analysis and QF-PCR in 32,967 prenatal diagnoses.

Background: Detection of mosaicism has always been difficult in prenatal diagnosis, which is to assess the value of karyotyping combined with three different molecular genetic tests for prenatal diagnosis. Retrospective review of chromosomal mosaicism (CM) was conducted in 32,967 pregnant women from January 2015 to December 2022.

Methods: A total of 148 fetuses diagnosed with chromosomal mosaicism by karyotyping with copy number variant sequencing (CNV-seq)/ chromosomal microarray analysis (CMA) and quantitative fluorescent polymerase chain reaction (QF-PCR) were selected, and the results from three the methods were compared and further analyzed.

[Study of factors associated with the false-positive rate of second-trimester serological screening in 632,825 cases in Sichuan based on propensity score matching].

Objective: To retrospectively analyze the results of second-trimester serological prenatal screening and explore the factors which may influence the false-positive rate (FPR).

Methods: From January 2013 to December 2022, false-positive samples with follow-up outcomes from 632,825 second-trimester serological prenatal screening samples tested at Sichuan Provincial Maternity and Child Health Care Hospital were selected as the study group, while true-negative samples were 1 : 1 matched as the control group by propensity-score matching (PSM). Univariate and binary logistic regression models were used to analyze the influencing factors.

Reproductive Toxicity and Multi/Transgenerational Effects of Emerging Pollutants on .

Emerging pollutants (EPs) are receiving increasing attention due to the threats they pose to the environment and human health. As EPs continue to emerge, risk assessment requires many model animals. () has been an outstanding toxicological model organism due to its growth and development characteristics.

CXCL1/IGHG1 signaling enhances crosstalk between tumor cells and tumor-associated macrophages to promote MC-LR-induced colorectal cancer progression.

Microcystin-leucine arginine (MC-LR) is a common cyantotoxin produced by hazardous cyanobacterial blooms, and eutrophication is increasing the contamination level of MC-LR in drinking water supplies and aquatic foods. MC-LR has been linked to colorectal cancer (CRC) progression associated with tumor microenvironment, however, the underlying mechanism is not clearly understood. In present study, by using GEO, KEGG, GESA and ImmPort database, MC-LR related differentially expressed genes (DEGs) and pathway- and gene set-enrichment analysis were performed.

First Survey of the Pathogenic Fungus Batrachochytrium dendrobatidis in Wild Populations of the Yunnan Caecilian (Ichthyophis bannanicus) in Guangxi, China.

Batrachochytrium dendrobatidis (Bd), which causes chytridiomycosis, mainly infects Anura and Caudata but is poorly known in Gymnophiona. We conducted a survey of Bd in the Yunnan caecilian (Ichthyophis bannanicus) and found that 6 of 71 samples (8.4%) tested positive for Bd.

Elevated Krüppel-like factor 5 expression in spatiotemporal mouse lungs is similar to human congenital cystic adenomatoid malformation of the lungs.

Objective The study aimed to investigate the role of high Krüppel-like factor 5 (KLF5) expression on the pathogenesis of congenital cystic adenomatoid malformation of the lungs (CCAML) in mice. Methods A mouse model of high KLF5 expression in the lungs was established. KLF5 expression and the pulmonary lumen diameter were examined by immunohistochemistry to determine a successful model.

A comparison of anesthetic regimens using etomidate and propofol in patients undergoing first-trimester abortions: double-blind, randomized clinical trial of safety and efficacy.

Background: This prospective study compared the safety, recovery time and side effects of six distinct general anesthesia regimens for first-trimester surgical abortion.

Study Design: Two hundred forty women scheduled for surgical abortion at 6 to 8 weeks of gestation were randomized into three groups (n=40) of propofol: group P (2 mg/kg propofol alone), group PF (2 mg/kg propofol+1 mcg/kg fentanyl), group PMF (2 mg/kg propofol+1 mcg/kg fentanyl+0.02 mg/kg midazolam) and three groups (n=40) of etomidate: group E (0.

High-level expression and purification of human epidermal growth factor with SUMO fusion in Escherichia coli.

Human epidermal growth factor (hEGF) can stimulate the division of various cell types and has potential clinical applications. However, the high expression of active hEGF in Escherichia coli has not been successful, as the protein contains three intra-molecular disulfide bonds that are difficult to form correctly in the bacterial intracellular environment. To solve this problem, we fused the hEGF gene with a small ubiquitin-related modifier gene (SUMO) by synthesizing an artificial SUMO-hEGF fusion gene that was highly expressed in Origami (DE3) strain.