A novel variation in DEPDC5 causing familial focal epilepsy with variable foci.

Background: Disheveled, EGL-10, and pleckstrin (DEP) domain-containing protein 5 (DEPDC5) is a component of GTPase-activating protein (GAP) activity toward the RAG complex 1 (GATOR1) protein, which is an inhibitor of the amino acid-sensing branch of the mammalian target of rapamycin complex 1 (mTORC1) pathway. GATOR1 complex variations were reported to correlate with familial focal epilepsy with variable foci (FFEVF). With the wide application of whole exome sequencing (WES), more and more variations in DEPDC5 were uncovered in FFEVF families. Methods: A family with a proband diagnosed with familial focal epilepsy with variable foci (FFEVF) was involved in this study. Whole exome sequencing (WES) was performed in the proband, and Sanger sequencing was used to confirm the variation carrying status of the family members. Mini-gene splicing assay was performed to validate the effect on the alternative splicing of the variation. Results: A novel variant, c.1217 + 2T>A, in DEPDC5 was identified by WES in the proband. This splicing variant that occurred at the 5' end of intron 17 was confirmed by mini-gene splicing assays, which impacted alternative splicing and led to the inclusion of an intron fragment. The analysis of the transcribed mRNA sequence indicates that the translation of the protein is terminated prematurely, which is very likely to result in the loss of function of the protein and lead to the occurrence of FFEVF. Conclusion: The results suggest that c.1217 + 2T>A variations in DEPDC5 might be the genetic etiology for FFEVF in this pedigree. This finding expands the genotype spectrum of FFEVF and provides new etiological information for FFEVF.

Fluorine accumulation characteristics of 85 tea tree (Camellia sinensis) varieties and its potential risk assessment.

Tea tree is a fluorine (F)-enriched plant, leading to much concern about the safety of drinking tea from tea tree (Camellia sinensis (L.) Kuntze). Tea tree is a perennial leaf-harvested crop, and tea production in China is generally categorized as spring tea, summer tea and autumn tea in its annual growth rounds. However, the seasonally dynamic changes of F content and accumulation in the leaves and its drinking safety are poorly understood. In this study, 85 tea varieties cultivated under the same conditions were investigated to analyze the seasonal variation of F content and it's relationships with F accumulation, aluminum (Al), calcium (Ca) and manganese (Mn) and hazard quotient (HQ) in young leaves (one bud and two leaves, YL) and mature leaves (canopy leaves, ML). The average F contents and accumulations were 350 mg kg-1 and 203 g ha-1 in YL, and they were 2451 mg kg-1 and 2578 g ha-1 in ML, respectively, with F mainly accumulated in ML. As the growing season progresses, the F content showed a gradual increase in YL, while a decrease in ML, inferring that F may be redistributed from mature leaves to young leaves. Additionally, the F content was quite different among tea varieties which are suitable for processing oolong tea, green tea, and black tea, with higher F accumulation in oolong tea varieties than in green and black tea varieties. Moreover, F content and accumulation could be obviously affected by the geographical origin of the tea tree varieties, with significantly higher F content in the varieties from F rich fluorite belts than other regions. Furthermore, F content and accumulation showed a significant positive correlation with the content of Al and Mn (p < 0.05). Based on a daily tea consumption of 8.7 g, the HQ was investigated to show that the proportion of tea leaves with HQ<1 made from spring, summer and autumn tender leaves of 85 varieties was 100 %, 90.6 % and 50.6 %, respectively, indicating that the tea with the best drinking safety comes from spring, followed by summer, and then autumn. This result suggests that it could be necessary to avoid planting tea trees in fluorite mining areas, choose low F tea tree varieties, and control the tenderness of fresh leaves in order to ensure the safety of tea drinking.

Plasma GPI and PGD are associated with vascular normalization and may serve as novel prognostic biomarkers for lung adenocarcinoma: Multi-omics and multi-dimensional analysis.

The aim of this study was to explore potential novel plasma protein biomarkers for lung adenocarcinoma (LUAD). A plasma proteomics analysis was carried out and candidate protein biomarkers were validated in 102 LUAD cases and 102 matched healthy controls. The same LUAD tumor tissues were detected to explore the correlation between the expression of candidate proteins in tissues and plasma and vascular normalization. A LUAD active metastasis mice model was constructed to explore the role of candidate proteins for lung metastasis. GPI and PGD were verified to be upregulated in plasma from LUAD patients, and the expression of GPI in tumor tissue was positively correlated with the expression of GPI in plasma and negatively correlated with the normalization of tumor blood vessels. Meanwhile, a negative correlation between the expression of GPI and PGD in plasma and tumor vascular normalization was discovered. In the LUAD active metastasis model, the lowest levels of vascular normalization and the highest expression of GPI and PGD were found in mice with lung metastases. This study found that GPI and PGD may be potential plasma biomarkers for LUAD, and monitoring those may infer the risk of metastasis and malignancy of the tumor. SIGNIFICANT: We identified GPI and PGD as potential novel diagnostic and prognostic biomarkers for LUAD. PGD and GPI can be used as diagnostic biomarkers in combination with other available strategies to assist in the screening and diagnosis of LUAD, and as prognostic biomarkers aid in predict the risk of tumor metastasis and malignancy in patients with LUAD.

Perinatal maternal factors influencing postpartum feeding practices at six weeks.

OBJECTIVE: Despite the World Health Organization's recommendation of exclusive breastfeeding for the initial 6 months, breastfeeding rates decline within the first 6 weeks after delivery. This study aimed to (1) investigate the breastfeeding rate at 6 weeks postpartum and (2) explore the influence of perinatal factors on feeding patterns at 6 weeks postpartum. METHOD: A total of 635 participants were enrolled from February to August 2023 at outpatient clinics in three tertiary hospitals in Nantong City. Variables were collected through questionnaires during the third trimester of pregnancy, including demographic information, pregnancy stress, anxiety, depression, sleep, and resilience. At 6 weeks postpartum, information regarding feeding patterns, delivery and postpartum situations, postpartum stress, anxiety, depression, sleep, and resilience was gathered. Initial single-factor analyses were conducted using feeding pattern as the dependent variable, and variables with significance were chosen as independent variables. The disordered multi-classification logistic regression model was then established using the stepwise forward method. RESULTS: Within the first 6 weeks, 35.28% (224/635) of postpartum women exclusively breastfed their infants. Factors influencing exclusive breastfeeding and formula feeding at 6 weeks postpartum included breast pain, sleep quality, mental resilience, difference between postpartum and late pregnancy anxiety, insufficient milk supply, and maternal herself caring for the infant (P < 0.05). Factors influencing the transition from exclusive to partial breastfeeding were insufficient milk supply and maternal herself caring for the infant (P < 0.05). CONCLUSION: The study reveals a relative low rate of exclusive breastfeeding in China's first 6 weeks postpartum, along with a comparison of perinatal factors affecting three different feeding patterns. Our findings may contribute additional evidence to the association between perinatal factors and feeding patterns. This study guides healthcare professionals in developing strategies to promote exclusive breastfeeding and improve personalized counseling for exclusive breastfeeding and mental health.

Family intimacy and adaptability and non-suicidal self-injury: a mediation analysis.

BACKGROUND: Current research has been focusing on non-suicidal self-injury (NSSI) behaviors among adolescents with depression. Although family intimacy and adaptability are considered protective factors for NSSI, evidence supporting this relationship is lacking. OBJECTIVE: This study aims to examine the mechanisms operating in the relationship between family intimacy and adaptability and NSSI behaviors among adolescents. METHODS: A self-administered general demographic information questionnaire, the Behavioral Functional Assessment Scale for Non-Suicidal Self-Injury, the Family Intimacy and Adaptability Scale, the Connor-Davidson Resilience Scale, and the Self-Assessment of Depression Scale were distributed among adolescents with depression in three tertiary hospitals in Jiangsu Province. RESULTS: The relationship between family intimacy and adaptability and NSSI was assessed among 596 adolescents with depression. The results revealed the following: (1) Family intimacy and adaptability were negatively correlated with NSSI behavior. (2) Psychological resilience and depression levels acted as chain mediators in the relationship between family intimacy and adaptability and NSSI behavior. CONCLUSIONS: Enhancing psychological resilience, controlling depressive symptoms, and reducing depression severity among adolescents by improving their family intimacy and adaptability are conducive to preventing and mitigating their NSSI behaviors.

Path analysis of influencing factors for maternal antenatal depression in the third trimester.

Maternal antenatal depression (AD) is a nonpsychotic depressive episode during pregnancy that can harm both the pregnant woman and the fetus. This study aimed to investigate the intrinsic interrelationships between AD and its influencing factors by constructing a path model. This survey-based cross-sectional study included 1071 pregnant women who underwent pregnancy examinations in three hospitals in Nantong City, China, between February and June 2023. General information and information regarding maternal AD, pregnancy stress, prenatal anxiety, social support, marital satisfaction, sleep quality, and resilience were collected. Multiple linear regression analysis using SPSS 25.0 was employed to determine the factors influencing pregnancy depression, and Amos25.0 was used to construct a structural equation model. AD incidence was 19.4% (208/1071). The independent risk factors affecting AD in pregnant women have been integrated into the established path analysis model. The model demonstrated a good fit (χ2/DF = 1.238, comparative fit index = 0.999, goodness-of-fit index = 0.998, normed fit index = 0.996, adjusted goodness-of-fit index = 0.990, incremental fit index = 0.999, and root mean square error of approximation = 0.015). While prenatal anxiety (0.230) and hyperthyroidism (0.048) only had direct effects on AD, mental resilience was the biggest factor affecting AD, followed by pregnancy stress, marital satisfaction, prenatal anxiety, sleep quality, social support, and hyperthyroidism. Improved mental resilience, social support, sleep quality, and marital satisfaction; reduced pregnancy stress and prenatal anxiety; and effective hyperthyroidism treatment might reduce AD. This study underscored the significance of delivering actionable strategies and tangible assistance to pregnant women to reduce AD.

The mediating role of social support and resilience between self-efficacy and prenatal stress: a mediational analysis.

BACKGROUND: Prenatal stress is a highly prevalent mental disorder experienced by pregnant women. This study assessed the prevalence and influencing factors of prenatal stress and investigated the mediating role of social support and resilience between self-efficacy and prenatal stress among pregnant women in China. METHODS: A convenience sample comprising 1071 pregnant women from three hospitals in Nantong, Jiangsu Province, China, was recruited between February and June 2023. These participants completed a set of general survey questionnaires and were assessed using the Pregnancy Pressure Scale, Perceived Social Support Scale, the 10-item Connor-Davidson Resilience Scale, and the Chinese version of the General Self-Efficacy Scale. Furthermore, a hierarchical multiple regression model was employed to investigate the relevant factors and mediators of prenatal stress symptoms. A structural equation model was used to examine the mediating role of social support and resilience in the relationship between self-efficacy and prenatal stress. RESULTS: The results of the multivariate regression analysis indicated significant associations between prenatal stress and parity, self-efficacy, social support, and resilience (P < 0.001). Self-efficacy accounted for 35.33% of the total effect, with a direct effect of -2.5306 (95% confidence interval [CI]: -4.0309 to -1,0303). Further examination through mediation analysis revealed the mediating roles of social support and resilience in the relationship between self-efficacy and prenatal stress. The mediating effect of social support was - 1.5933 (95% CI: -2.2907 to -0.9496), accounting for 22.24% of the total effect. Similarly, resilience exhibited a mediating effect of -3.0388 (95% CI: -4.3844 to -1.7135), accounting for 42.43% of the total effect. CONCLUSION: The mediation analysis revealed that among pregnant women in China, the influence of self-efficacy on prenatal stress is channelled through social support and resilience. Therefore, enhancing social support, resilience, and self-efficacy might alleviate prenatal stress.