Objective: The efficacy of antidepressants is influenced by a combination of genetic, individual, and environmental factors. This study aimed to investigate the association between the miR-182 rs76481776 polymorphism and the response to antidepressant treatment in major depressive disorder (MDD) patients, and its underlying molecular mechanisms. Methods: This study enrolled 180 MDD patients and 180 healthy controls. The rs76481776 genotype was determined using TaqMan-based qPCR. The severity of depression and treatment response were assessed using the Hamilton Depression Rating Scale (HAMD). The expression of miR-182 and BDNF was measured using RT-qPCR. The regulatory relationship between miR-182 and BDNF was confirmed through a luciferase reporter gene assay. The correlation between miR-182 and BDNF expression was evaluated using the Pearson correlation coefficient. Results: The T allele of rs76481776 was a significant risk factor for MDD (OR = 2.182, 95% CI: 1.424−3.345, p ＜ 0.001) and was significantly associated with higher baseline scores on the HAMD. Moreover, individuals carrying the T allele (CT/TT genotype) exhibited a significantly poorer response to antidepressant treatment and a lower remission rate within 12 months compared to those with the CC genotype (p ＜ 0.05). Mechanistically, miR-182 was highly expressed in patients with MDD (p ＜ 0.05), and its expression was even higher in T allele carriers (p ＜ 0.05). miR-182 could directly target and suppress BDNF, leading to decreased BDNF expression in MDD patients, and its expression was significantly and inversely correlated with BDNF expression. Conclusion The T allele of rs76481776 diminished the therapeutic efficacy of antidepressants by up-regulating miR-182 expression and subsequently suppressing BDNF expression.

Objective:To investigate the indications for prenatal diagnosis using copy number variation-sequencing (CNV-seq) and the abnormalities detected by the method.Methods:This retrospective analysis involved 17 994 singleton pregnant women who underwent prenatal CNV-seq at the First Affiliated Hospital of Zhengzhou University from January 2019 to December 2022. These cases were divided into five groups based on the following indications for CNV-seq: abnormal fetal ultrasound findings, high-risk results indicated by non-invasive prenatal testing (NIPT) or Down's syndrome serological screening (Down's screening), adverse pregnancy history, and advanced maternal age. The proportions of cases with the indications for prenatal CNV-seq, the detection rates of abnormalities (numerical abnormalities of chromosomes, pathogenic/likely pathogenic CNV in structural abnormalities) in the five groups, and the distribution of these abnormalities were analyzed. Statistical analysis was performed using Chi-square test. Results:Among the 17 994 pregnant women, the women with abnormal fetal ultrasound findings, high-risk NIPT results, high-risk Down's screening results, adverse pregnancy history, and advanced maternal age accounted for 32.65% (5 875/17 994), 11.90% (2 142/17 994), 31.62% (5 690/17 994), 11.70% (2 105/17 994), and 12.13% (2 182/17 994), respectively. The detection rates of abnormalities in the five groups were 10.60% (623/5 875), 34.64% (742/2 142), 4.69% (267/5 690), 2.99% (63/2 105), and 3.67% (80/2 182), respectively. The overall detection rate of abnormalities was 9.86% (1 775/17 994). The cases with numerical abnormalities of chromosomes accounted for 68.79% (1 221/1 775), trisomy 21 was predominant (49.30%, 602/1 221). Chromosomal structural abnormalities were detected in 31.21% (554/1 775) of the cases with abnormalities, with 57.76% (320/554) harboring pathogenic CNVs and 42.24% (234/554) harboring likely pathogenic CNVs. The detection rate of chromosomal numerical abnormalities was higher than that of structural abnormalities in the abnormal fetal ultrasound group, NIPT high-risk group, and advanced maternal age group [6.81% (400/5 875) vs. 3.80% (223/5 875), χ2=53.10; 27.96% (599/2 142) vs. 6.68% (143/2 142), χ2=338.40; 2.43% (53/2 182) vs. 1.24% (27/2 182), χ2=8.61; all P<0.01]. A total of 416 microdeletions and 255 microduplications were detected in the 554 cases. The top three regions with the highest frequencies in microdeletions were Xp22.31 (12.74%, 53/416), 22q11.21 (7.93%, 33/416), and 17q12 (5.77%, 24/416); in microduplications, they were 22q11.21 (14.90%, 38/255), 17q12 (3.53%, 9/255), and 7q11.23 (3.53%, 9/255). Conclusions:Abnormal fetal ultrasound findings accounted for the highest proportion of prenatal diagnostic indications. The overall detection rate of abnormalities by CNV-seq is relatively high, especially in those with high-risk NIPT results as an indication for prenatal diagnosis. Among the chromosomal structural abnormalities detected in this study, the frequencies of Xp22.31 microdeletion and 22q11.21 microduplication are higher.

Objective:To summarize and analyze the clinical characteristics of systemic lupus erythematosus (SLE) combined with ischaemic stroke and the factors associated with poor prognosis.Methods:A total of 50 patients with SLE combined with ischaemic stroke in the First Affiliated Hospital of Xi′an Jiaotong University from January 2014 to June 2024 were included in the study, the clinical data of the patients were retrospectively collected and summarized, the Shapiro-Wilk test was used to assess the normality of data, and the factors related to poor prognosis were analyzed by logistic regression analyses.Results:Fifty patients with SLE combined with ischaemic stroke had a mean age of (47.1±15.5)years, 80.0%(40/50) were female, the duration of SLE was (5.6±6.3)years, the mean SLEDAI-2K score was (14.3±4.1), the rate of anticardiolipin antibody positivity was 30.0%(15/50), and the rate of β 2-glycoprotein Ⅰ antibody positivity was 28.0%(14/50). The most common clinical manifestations of stroke were impaired limb movement (34.0%) (17/50), cerebral infarction mainly in the cerebral hemisphere (82.0%)(41/50), combined with cerebral haemorrhage in 6.0%(3/50), cerebral leukoencephalopathy in 26.0%(13/50), and cerebral atrophy in 24.0%(12/50). In terms of treatment, the most used immunosuppressant was cyclophosphamide (34.0%, 17/50), 64.0%(32/50) of patients received aspirin, 32.0%(16/50) received clopidogrel and 14.0%(7/50) received anticoagulation. Four deaths and 12 cases of severe disability were found in 50 patients at follow-up, and SLEDAI-2000 scores were positively correlated with the above poor prognosis using univariate [ OR(95% CI)=1.407(1.123,1.764), P=0.003] and multivariate [ OR(95% CI)=1.388(1.097, 1.756), P=0.006] regression analyses. Conclusion:Patients with SLE combined with ischaemic stroke had high disease activity in SLE, and SLEDAI-2000 scores were positively associated with poor prognosis of death and severe disability.

Objective:To investigate the indications for prenatal diagnosis using copy number variation-sequencing (CNV-seq) and the abnormalities detected by the method.Methods:This retrospective analysis involved 17 994 singleton pregnant women who underwent prenatal CNV-seq at the First Affiliated Hospital of Zhengzhou University from January 2019 to December 2022. These cases were divided into five groups based on the following indications for CNV-seq: abnormal fetal ultrasound findings, high-risk results indicated by non-invasive prenatal testing (NIPT) or Down's syndrome serological screening (Down's screening), adverse pregnancy history, and advanced maternal age. The proportions of cases with the indications for prenatal CNV-seq, the detection rates of abnormalities (numerical abnormalities of chromosomes, pathogenic/likely pathogenic CNV in structural abnormalities) in the five groups, and the distribution of these abnormalities were analyzed. Statistical analysis was performed using Chi-square test. Results:Among the 17 994 pregnant women, the women with abnormal fetal ultrasound findings, high-risk NIPT results, high-risk Down's screening results, adverse pregnancy history, and advanced maternal age accounted for 32.65% (5 875/17 994), 11.90% (2 142/17 994), 31.62% (5 690/17 994), 11.70% (2 105/17 994), and 12.13% (2 182/17 994), respectively. The detection rates of abnormalities in the five groups were 10.60% (623/5 875), 34.64% (742/2 142), 4.69% (267/5 690), 2.99% (63/2 105), and 3.67% (80/2 182), respectively. The overall detection rate of abnormalities was 9.86% (1 775/17 994). The cases with numerical abnormalities of chromosomes accounted for 68.79% (1 221/1 775), trisomy 21 was predominant (49.30%, 602/1 221). Chromosomal structural abnormalities were detected in 31.21% (554/1 775) of the cases with abnormalities, with 57.76% (320/554) harboring pathogenic CNVs and 42.24% (234/554) harboring likely pathogenic CNVs. The detection rate of chromosomal numerical abnormalities was higher than that of structural abnormalities in the abnormal fetal ultrasound group, NIPT high-risk group, and advanced maternal age group [6.81% (400/5 875) vs. 3.80% (223/5 875), χ2=53.10; 27.96% (599/2 142) vs. 6.68% (143/2 142), χ2=338.40; 2.43% (53/2 182) vs. 1.24% (27/2 182), χ2=8.61; all P<0.01]. A total of 416 microdeletions and 255 microduplications were detected in the 554 cases. The top three regions with the highest frequencies in microdeletions were Xp22.31 (12.74%, 53/416), 22q11.21 (7.93%, 33/416), and 17q12 (5.77%, 24/416); in microduplications, they were 22q11.21 (14.90%, 38/255), 17q12 (3.53%, 9/255), and 7q11.23 (3.53%, 9/255). Conclusions:Abnormal fetal ultrasound findings accounted for the highest proportion of prenatal diagnostic indications. The overall detection rate of abnormalities by CNV-seq is relatively high, especially in those with high-risk NIPT results as an indication for prenatal diagnosis. Among the chromosomal structural abnormalities detected in this study, the frequencies of Xp22.31 microdeletion and 22q11.21 microduplication are higher.

Objective:To summarize and analyze the clinical characteristics of systemic lupus erythematosus (SLE) combined with ischaemic stroke and the factors associated with poor prognosis.Methods:A total of 50 patients with SLE combined with ischaemic stroke in the First Affiliated Hospital of Xi′an Jiaotong University from January 2014 to June 2024 were included in the study, the clinical data of the patients were retrospectively collected and summarized, the Shapiro-Wilk test was used to assess the normality of data, and the factors related to poor prognosis were analyzed by logistic regression analyses.Results:Fifty patients with SLE combined with ischaemic stroke had a mean age of (47.1±15.5)years, 80.0%(40/50) were female, the duration of SLE was (5.6±6.3)years, the mean SLEDAI-2K score was (14.3±4.1), the rate of anticardiolipin antibody positivity was 30.0%(15/50), and the rate of β 2-glycoprotein Ⅰ antibody positivity was 28.0%(14/50). The most common clinical manifestations of stroke were impaired limb movement (34.0%) (17/50), cerebral infarction mainly in the cerebral hemisphere (82.0%)(41/50), combined with cerebral haemorrhage in 6.0%(3/50), cerebral leukoencephalopathy in 26.0%(13/50), and cerebral atrophy in 24.0%(12/50). In terms of treatment, the most used immunosuppressant was cyclophosphamide (34.0%, 17/50), 64.0%(32/50) of patients received aspirin, 32.0%(16/50) received clopidogrel and 14.0%(7/50) received anticoagulation. Four deaths and 12 cases of severe disability were found in 50 patients at follow-up, and SLEDAI-2000 scores were positively correlated with the above poor prognosis using univariate [ OR(95% CI)=1.407(1.123,1.764), P=0.003] and multivariate [ OR(95% CI)=1.388(1.097, 1.756), P=0.006] regression analyses. Conclusion:Patients with SLE combined with ischaemic stroke had high disease activity in SLE, and SLEDAI-2000 scores were positively associated with poor prognosis of death and severe disability.

Objective: The nine diagnostic criteria for Internet Gaming Disorder (IGD) proposed in Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5) have been widely adopted, but have also faced significant criticism. This study evaluated the psychometric properties of the nine DSM-5 criteria for IGD using item response theory (IRT). Methods: Four DSM-5-based scales, including the Game Addiction Scale, the Internet Gaming Disorder Scale Short-Form, the Ten- Item Internet Gaming Disorder Test, and the Internet Gaming Disorder Scale, were administered to 1,530 Chinese adolescents and young adults. IRT models were used to assess the psychometric properties of these criteria. The potential for differential item functioning (DIF) related to sex and between adolescents and adults was also evaluated. Results: All nine DSM-5 criteria demonstrated very high to perfect discrimination (a >1.38), providing substantial diagnostic information (item information >0.476) for diagnosing IGD. These scales, despite variations in wording and scoring methods, exhibited strong correlations in total scores (r≥0.502, p<0.001) and high consistency (Kendall’s W ≥0.656, p<0.05) concerning the fitted IRT parameters. Among the nine criteria, escape showed the lowest cross-scale discrimination, item information, and difficulty. In contrast, withdrawal showed the highest item information and discrimination, and the second highest difficulty. Additionally, there was no evidence of DIF related to sex or age (adolescents vs. adults) across nearly all scale items. Conclusion These findings indicate that the nine DSM-5 criteria generally possess acceptable psychometric properties for diagnosing IGD. Notably, withdrawal may represent a core symptom of IGD. Conversely, escape demonstrated inferior performance compared to the other eight criteria, indicating a potential need for further revision.

OBJECTIVE To explore the effects of 5，10-methylenetetetrahydrofolate reductase （MTHFR） gene polymorphism on the adverse reactions in patients with osteosarcoma after the first high-dose methotrexate （HD-MTX） treatment. METHODS A prospective study was conducted to include 53 patients with osteosarcoma treated with HD-MTX at the first admission in General Hospital of Eastern Theater Command. The dose of MTX was evaluated according to the polymorphism of rs1801133 in the METHFR gene and demographic factors， then whole pharmaceutical monitoring was conducted. The data on liver toxicity， renal toxicity， hematological toxicity， and gastrointestinal reaction were collected after the first chemotherapy cycle. Single factor analysis and binary Logistic regression analysis were used to analyze the correlation between MTX dose， 24 h blood drug concentration， and rs1801133 locus genotype with four adverse reactions. RESULTS The MTX dosage in patients with CC wild type was significantly higher than that in TT mutant type （7.97 g/m2 vs. 6.98 g/m2， P＝0.030）， but this difference did not affect the 0 h and 24 h blood drug concentrations of MTX. The above four adverse reactions were not related to the dose of MTX. The results of binary Logistic regression analysis showed that carrying one T allele increased the risk of developing hematological toxicity by 4.13 times（95% confidence interval：1.35-12.62，P＝0.013）. When 24 h plasma concentration threshold of MTX was set to 2.65 µmol/L， the sensitivity and specificity of predicting liver function damage were 53.33% and 86.96%， respectively； when the threshold was set to 7.28 μmol/L， the sensitivity and specificity of predicting renal damage were 100% and 81.63%. CONCLUSIONS The polymorphism of the rs1801133 in the MTHFR gene is associated with hematological toxicity of MTX. Patients who take HD-MTX for the first time and carry the T allele have a high risk of hematological toxicity. The 24 h plasma concentration of MTX is related to liver toxicity and renal toxicity. In addition， monitoring the 24 h blood drug concentration can predict liver and renal toxicity， and take early intervention.

In recent years, with the development of organ preservation, surgical techniques, perioperative management and immunosuppression regimens, the success rate of liver transplantation and survival rate of the recipients have been significantly enhanced. Liver transplantation has become the optimal treatment for patients with end-stage liver disease. However, biliary complications still commonly occur after liver transplantation, especially biliary anastomotic stricture. Severe biliary anastomotic stricture will not only increase the cost of treatment, but also lead to graft loss and even affect the survival rate of recipients. Therefore, timely diagnosis and treatment of biliary anastomotic stricture play a significant role in improving the survival rate of liver transplant recipients. In this article, the risk factors, clinical symptoms, diagnosis and treatment of biliary anastomotic stricture after liver transplantation were reviewed, aiming to provide novel ideas for the research, diagnosis and treatment of biliary anastomotic stricture after liver transplantation, and further enhance clinical efficacy of liver transplantation and the quality of life of recipients.

Objective: Self-determination theory (SDT) deems that people have three causality orientations: autonomy orientation, control orientation, and impersonal orientation. Previous studies suggested that lower autonomy orientation or higher control and impersonal orientations may be associated with more addictive behaviors. Our study aimed to investigate if these associations exist in Internet gaming disorder (IGD), and if sensation seeking, anxiety, and depression could influence the associations between causality orientations and IGD symptoms. Methods: A total of 1,400 college students completed the Internet Gaming Disorder Scale, General Causality Orientation Scale, Brief Sensation Seeking Scale, Generalized Anxiety Disorder Scale, and Patient Health Questionnaire. Correlation, multiple linear regressions, structural equation model (SEM) analyses, and moderation analyses were conducted to explore the associations. Results: The control and impersonal orientations were positively associated with IGD symptoms, while the autonomy orientation was negatively associated with them. Moreover, SEM analyses showed that the autonomy-IGD relationship was totally mediated by anxiety and depression, the impersonal-IGD relationship was partially mediated by anxiety, and the control-IGD relationship was partially mediated by depression. Finally, the effects of causality orientations on IGD were moderated by sensation seeking. Conclusion Overall, autonomy orientation is linked to fewer gaming problems, whereas control and impersonal orientations are associated with more gaming problems. Moreover, the relationships between causality orientations and IGD symptoms are mediated by anxiety and depression and moderated by sensation seeking. Our findings inform theory on the motivations of gaming behaviors and may shed light on the prevention and intervention of IGD from the perspective of SDT.

Objective: Self-determination theory (SDT) deems that people have three causality orientations: autonomy orientation, control orientation, and impersonal orientation. Previous studies suggested that lower autonomy orientation or higher control and impersonal orientations may be associated with more addictive behaviors. Our study aimed to investigate if these associations exist in Internet gaming disorder (IGD), and if sensation seeking, anxiety, and depression could influence the associations between causality orientations and IGD symptoms. Methods: A total of 1,400 college students completed the Internet Gaming Disorder Scale, General Causality Orientation Scale, Brief Sensation Seeking Scale, Generalized Anxiety Disorder Scale, and Patient Health Questionnaire. Correlation, multiple linear regressions, structural equation model (SEM) analyses, and moderation analyses were conducted to explore the associations. Results: The control and impersonal orientations were positively associated with IGD symptoms, while the autonomy orientation was negatively associated with them. Moreover, SEM analyses showed that the autonomy-IGD relationship was totally mediated by anxiety and depression, the impersonal-IGD relationship was partially mediated by anxiety, and the control-IGD relationship was partially mediated by depression. Finally, the effects of causality orientations on IGD were moderated by sensation seeking. Conclusion Overall, autonomy orientation is linked to fewer gaming problems, whereas control and impersonal orientations are associated with more gaming problems. Moreover, the relationships between causality orientations and IGD symptoms are mediated by anxiety and depression and moderated by sensation seeking. Our findings inform theory on the motivations of gaming behaviors and may shed light on the prevention and intervention of IGD from the perspective of SDT.