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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 (70.64%) female participants. The median (IQR) scores for knowledge, attitude, and practice were 17 (7, 29) (possible range: 0–42), 40 (35, 44) (possible range: 11–55), and 30 (19, 36) (possible range: 9–45), respectively. The mediation analysis based on path analysis model demonstrated that the number of children (β = 0.178, p  = 0.005), screening experience (β = -0.288, p  = 0.001), gender (β = -0.162, p  = 0.016), and binge drinking (β = 0.150, p  = 0.006) directly influenced knowledge. Additionally, knowledge (β = -0.224, p  = 0.013), occupation (β = 0.119, p  = 0.015), education (β = 0.181, p  = 0.015), gender (β = 0.182, p  = 0.004), and binge drinking (β = -0.158, p  = 0.011) directly affected attitude. Practice was directly influenced by knowledge (β = -0.163, p  = 0.007), attitude (β = 0.609, p  = 0.009), number of premature births (β = 0.087, p  = 0.006), and number of abortions (β = 0.114, p  = 0.013). Gender (β = 0.036, p  = 0.010) and binge drinking (β = -0.034, p  = 0.005) indirectly affected attitude, while knowledge (β = -0.136, p  = 0.011) indirectly influenced practice. Conclusions Individuals either in early pregnancy or preparing for pregnancy in our study population demonstrated variable levels of knowledge, generally positive attitudes, and moderate practices towards preconception and early pregnancy single-gene genetic disease screening. Targeted educational interventions should be implemented to enhance knowledge and improve screening practices, particularly focusing on groups with lower knowledge scores, such as those with less screening experience or specific demographic characteristics. Clinical trial registry number Not applicable.

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. This framework is preliminarily applied to a large, non-selective community sample ( N  = 4102) to explore its utility and potential for deconstructing psychopathological heterogeneity. Methods Data on comprehensive psychopathology and RDoC negative valence constructs were collected from the sample. Factor analysis and exploratory graph analysis were used to extract symptom dimensions. Latent profile analysis based on these dimensions was applied to identify psychopathological profiles. Partial correlation networks were estimated for each profile, and symptom network characteristics were compared across profiles. Finally, hierarchical multiple regression was applied to assess incremental validity. Results The first step of the phased framework involves extracting homogeneous dimensions based on symptom co-occurrence patterns, yielding seven distinct dimensions: Obsessive–Compulsive , Emotional Distress , Eating-Related , Substance-Related , Aggressive , Psychotic , and Somatoform dimensions. The second step involves applying a person-centered approach to identify latent subgroups based on these symptom dimensions. Four profiles were identified, namely Substance Use Group , Moderate Symptomatology Group , Disengaged from Symptomatology Group , and Severe Symptomatology Group . The third step involves characterizing symptom interaction patterns across subgroups. Using a network approach, the Severe Symptomatology Group exhibited the densest interconnections and the highest global network strength, with Aggressive and Psychotic dimensions serving as core issues compared to other profiles. Finally, incremental validity was assessed through associations with self-reported neurobehavioral functions. Results showed that these profiles provided unique predictive value for RDoC negative valence constructs beyond both dichotomous diagnostic status and purely dimensional approach. Conclusions This study introduces a fine-grained framework for deconstructing psychopathological heterogeneity, providing a comprehensive approach to parsing psychopathology. While the framework is preliminarily applied to a large sample from the Chinese population, future studies should integrate multimodal neurobehavioral measures, employ intensive longitudinal designs to track symptom dynamics, and validate its consistency across diverse cultural and regional contexts.

Background:To enhance the efficacy of maternal serum screening (MSS), we conducted an analysis to examine the correlation between certain factors identified during second-trimester screening (STS) and fetal chromosomal abnormalities, excluding the common trisomies (trisomies 13, 18, and 21). Additionally, specific risk factor ranges were established for each category.Methods:A retrospective 1:3 matched case-control study was conducted. Case data were obtained from 311 STS samples of fetal chromosomal abnormalities other than common trisomies, with testing performed in the Prenatal Diagnosis Center of the Maternal and Child Health Care Hospital of Sichuan Province in China between 6 January 2013 and 12 April 2023. A total of 933 controls were matched accordingly. Univariate and multivariable conditional logistic regression analyses were implemented and sensitivity analysis was performed.Results:Multivariable logistic analyses revealed that the independent risk factors for fetal chromosomal abnormalities other than common trisomies were ultrasonographic structural abnormalities (odds ratio (OR) = 3.038; 95% confidence interval (CI), 1.774–5.202; p < 0.001); free β-human chorionic gonadotropin (free β-hCG) as multiples of the median (MoMs) of ≤0.34 (OR = 3.006; 95% CI, 1.803–5.013; p < 0.001), 2.82–3.53 (OR = 1.884; 95% CI, 1.321–2.688; p < 0.001), 3.54–4.67 (OR = 1.949; 95% CI, 1.300–2.923, p = 0.001), and ≥4.68 (OR = 1.730; 95% CI, 1.045–2.866; p = 0.033); and a trisomy 21 (T21) risk of 1/271–1/1000 (OR = 2.434; 95% CI, 1.706–3.472; p < 0.001), 1/101–1/270 (OR = 3.330; 95% CI, 2.300–4.821; p < 0.001), and ≥1/100 (OR = 3.441; 95% CI, 2.178–5.438; p < 0.001).Conclusions:Ultrasonographic structural abnormalities, free β-hCG MoMs, and T21 risk were identified as independent risk factors for fetal chromosomal abnormalities (with the exception of common trisomies) in STS. Our findings thus provide data to support clinical decision-making.

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. The χ2 test for multiple group rates was for the 5 clinical prenatal diagnostic indication groups was used to do multiple comparison tests for statistical analysis. Inconsistent results between methods were identified and further analyzed. Results A total of 148 CM cases was detected (0.45%, 148/32967), of which karyotyping was detected in combination with CMA in 73 cases (73/85), with CNV-seq in 5 cases (5/11), and with QF-PCR in 35 cases (35/52) and the mosaic conformity rates of the three methods compared with karyotyping were 85.9% (CMA), 67.3% (QF-PCR), and 45.5% (CNV-seq), respectively. There were 49 cases of autosomal mosaicism (49/148, 33.1%) and 99 cases of sex CM (99/148, 66.9%). There were 9 cases of small supernumerary marker chromosome (sSMC)with CMA detection clarified the origin of chromosome fragments. The non-invasive prenatal testing (NIPT) group and the ultrasound abnormality group had the highest detection rates, accounting for 35.1% and 22.3%. Conclusions In chromosomal mosaicism, there are inconsistent results between different detection methods. Therefore, karyotyping combined with CMA/CNV-seq and FISH methods significantly improves the detection rate of chromosomal mosaicism and also confirms experimental data in the literature, which is of great value for prenatal diagnosis.

Objective This study aimed to comprehensively analyze the detection capacity of non-invasive prenatal testing (NIPT) for chromosomal abnormalities of all 24 chromosomes, as well as high-risk indications for pregnancy and the fetal fraction, in a large cohort. Methods We retrospectively enrolled 118,969 pregnant women who underwent NIPT at Sichuan Provincial Maternity and Child Health Care Hospital from March 2019 to June 2022. The sensitivity, specificity, positive predictive value, negative predictive value, and positive chromosomal abnormality rate were calculated. The fetal fraction based on gestational age, maternal body mass index, and number was examined. Results NIPT demonstrated > 99% sensitivity and specificity for almost all of the common trisomies (T21, T18, and T13), sex chromosomal aneuploidies, rare autosomal trisomies, and microdeletion/microduplication syndromes. Positive predictive values varied from 12.0% to 89.6%. Advanced maternal age was associated with an increased risk of three major aneuploidies. The fetal fraction was positively correlated with gestational age and negatively correlated with the maternal body mass index. Conclusions NIPT can be used to effectively screen for chromosomal abnormalities across all 24 chromosomes. Advanced maternal age is a risk factor for high-risk pregnancy, and careful consideration of the fetal fraction is essential during NIPT.

In order to establish a user-oriented product design model, it is necessary to analyze existing user collaboration methods. By analyzing the existing user collaboration methods, the existing user collaboration methods are summarized. A sales store based on user experience scenarios and simulated design experiences is proposed. Through the tangible products and intangible experience, build a positive communication platform for users and designers. With face recognition, multi-channel camera, sensor technology, help users to participate in the design. Deeply explore the potential consumer needs of users under the big data architecture. It will help designers to better exert their own value in design research, and at the same time better assume responsibility in design research, so that design and manufacturing and consumer demand can reach full consistency and avoid waste of resources.

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. Caenorhabditis elegans (C. elegans) has been an outstanding toxicological model organism due to its growth and development characteristics. Particularly, in studying the transgenerational influences of EPs, C. elegans has advantages in saving time and cost due to its short generation cycle. As infertility has become a major problem in human reproductive health, reproductive toxicities of EPs on contemporary nematodes and across generations of C. elegans were introduced in this review. Moreover, the underlying mechanisms involved in germ cell apoptosis, spermatogenesis, and epigenetic alteration were discussed. Future research opportunities and challenges are also discussed to expand our understanding of the reproductive influences of EPs.

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. Results from a cross-sectional study showed a nonlinear relationship between BLLs and LH/FSH, and a linear relationship between BLLs and serum T. After Pb chelation therapy, the BLLs in patients decreased from 61.7 to 36.3 (μg/dL), serum T and FSH decreased significantly (p < 0.001), and serum LH also decreased but without a significant change, while PRL and PROG increased significantly (p < 0.01). The data indicate that Pb may disturb male sex hormones by including LH, T, and FSH, and this needs further research.

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. Basement membrane damage and activity of matrix metalloproteinase-9 (MMP-9) were examined. After an adenovirus carrying KLF5 gene transfection in lung adenocarcinoma (H441) was created, changes in expression and activity of MMP-9 were determined. Results In a mouse model with high KLF5 expression, the pulmonary lumen was markedly enlarged, indicating establishment of CCAML. The basement membrane was degraded, and MMP-9 activity was significantly higher in the model group compared with the control group. Moreover, mice in a cellular model after transfection also showed higher MMP-9 activity than did controls. Conclusion High KLF5 expression may play a pivotal role in the pathogenesis of CCAML, partly through regulating the activity of MMP-9.

Invertebrate removal by traditional biological activated carbon (tra-BAC) and pre-BAC treatment processes was investigated in a full-scale water treatment plant. The results showed that invertebrate reproduction occurred in both BAC filters, but the invertebrate abundance in the finished water processed by tra-BAC was about 15 times greater than that processed using the pre-BAC process. In the pre-BAC process, the sand filter was placed after the BAC filter, and sand filtration removed most of the invertebrates, with an average removal efficiency of 91.1%. However, the pre-BAC filter, which was positioned behind the sedimentation tank, needed to be backwashed more frequently than the tra-BAC filter because of the high turbidity of the inlet water. The frequent backwashing reduced the biomass on the activated carbon and decreased the invertebrate reproductive rate. The results of this study are helpful for evaluating the pre-BAC treatment process in drinking water treatment plants.