Objective:To carry out carrier screening among people of childbearing age, detect the pathogenic genes of monogenic genetic diseases and analyze the carrier status of pathogenic variants, so as to provide fertility guidance and intervention measures for high-risk families.Methods:From August 2022 to August 2023, 1 533 families of childbearing age who met the criteria were recruited in the Chinese PLA General Hospital, including a total of 3 044 subjects. According to the standard enrollment procedure, 223 genes (197 autosomal recessive genes and 26 X-linked genes) of the subjects were tested. According to the screening results, genetic counseling and fertility guidance were provided to the subjects. Invasive prenatal diagnosis was performed for high-risk couples (both couples being carriers of the same autosomal recessive disease gene or the woman was a carrier of X-linked disease gene), and their pregnancy pattern, outcome and offspring phenotype were followed up.Results:(1) A total of 3 044 cases from 1 511 couples and women of childbearing age from 22 families were included for carrier screening. Totally 1 503 families chose simultaneous screening and 30 families chose sequential screening out of the 1 533 families. Among the 3 044 subjects, 1 603 individuals carried at least one pathogenic or likely pathogenic variant, and the overall carrier rate was 52.66% (1 603/3 044). A total of 2 292 pathogenic or likely pathogenic variants were detected, and 0.75 variants (2 292/3 044) were detected per capita. (2) The three genes with the highest carrier rates were GJB2 (8.67%, 264/3 044), CYP21A2 (3.19%, 97/3 044) and PAH (3.09%, 94/3 044). There were 32 genes with a carrier rate ≥1/200, 17 genes with a carrier rate ≥1/100, and 7 genes with a carrier rate ≥1/50. (3) Thirty-eight high-risk families were identified. After excluding G6PD gene mutation, there were 33 high-risk families, of which 25 couples were carriers of the same autosomal recessive gene, 9 women were carriers of X-linked gene, and 1 family was double high-risk couple with both autosomal recessive and X-linked gene. After further excluding the GJB2 c.109G>A mutation, 21 high-risk families were identified. Preimplantation genetic testing for monogenic disease was performed in 12 families after genetic counseling. Prenatal diagnosis was completed in 4 out of 5 high-risk families who conceived naturally. Two fetuses carried the parental variants and terminated the pregnancy, one fetus did not carry the parental variants but was induced due to trisomy 21 syndrome, and one fetus was a carrier of congenital disorders of glycosylation type 1a.Conclusions:Carrier screening effectively identifies high-risk genetic disease families and provides reproductive guidance to prevent the birth of affected children. However, establishing multidisciplinary team is essential for managing complex cases. Implementation should prioritize prenatal institutions with genetic counseling or diagnostic expertise for monogenic disorders or established referral networks.

Objective·To monitor postoperative blood glucose(BG)and blood lipids(BL)at multiple time points in pediatric patients undergoing liver transplantation(LT)and to analyze the influencing factors.Methods·An observational study was conducted,including pediatric LT patients from the Hepatic Surgery Department of Renji Hospital,Shanghai Jiao Tong University School of Medicine.Blood samples were collected one day before surgery and on days 1,7,and 14 after surgery.Basic patient information and laboratory indicators were recorded,including complete blood count(CBC),cytochrome P450(CYP)genotyping,tacrolimus dosage(TD),tacrolimus serum drug level(TSDL),fasting blood glucose(FBG),2-hour postprandial blood glucose(PBG),and biochemical testing for liver transplantation(BTLT).BTLT included the following indicators:total protein(TP),albumin(ALB),alanine aminotransferase(ALT),aspartate aminotransferase(AST),alkaline phosphatase(AKP),transglutaminase(GGT),direct bilirubin(DBil),total bilirubin(TBil),creatinine(Cr),triglyceride(TAG),total cholesterol(TC),prothrombin time(PT),and international normalized ratio(INR).The t-test or Mann-Whitney U test was used to analyze factors influencing PBG,Cox regression analysis was used to analyze factors influencing FBG,and logistic regression analysis was used to analyze factors influencing TC.Results·A total of 82 pediatric LT patients were included,with 45 males(54.9%)and 37 females(45.1%).The average age was 7 months,average height was 65 cm,and average body weight was 7.15 kg.FBG[(6.54±1.71)mmol/L]and PBG[(7.42±2.19)mmol/L]reached their highest values on the first postoperative day and gradually decreased to normal levels.There were 59 patients in the normal FBG and PBG groups and 23 in the abnormal groups.TAG[(0.93±0.63)mmol/L]and TC[(1.91±1.08)mmol/L]reached their lowest values on the first postoperative day and then slowly increased.The t-test indicated that TP(P=0.050),AKP(P=0.020),GGT(P=0.002),TC(P=0.017),and TD(P=0.028)showed statistically significant differences between the normal and abnormal PBG groups.Cox regression analysis showed that gender(HR=0.501,95%CI 0.184?1.361),age(HR=0.972,95%CI 0.876?1.079),height(HR=1.012,95%CI 0.903?1.135),body weight(HR=1.067,95%CI 0.720?1.579),and blood type(A type HR=1.294,95%CI 0.464?3.612;B type HR=1.303,95%CI 0.456?3.723;AB type HR=1.520,95%CI 0.310?7.441)did not significantly affect the BG's time change process.Logistic regression analysis showed that the patient's CYP(1×3 OR=9.332,95%CI 0.960?90.719;3×3 OR=18.083,95%CI 1.414?231.219)was a factor influencing TC.Conclusion·TD is a factor influencing PBG on the first postoperative day,and the patient's CYP is a factor influencing TC on the same day.

Objective:To investigate the distribution of CGG repeat numbers in the FMR1 gene among reproductive-age women in China, providing data reference for carrier screening and genetic counseling of Fragile X syndrome. Methods:This cross-sectional study recruited 16 610 reproductive-age women from 12 medical institutions between July 2022 and October 2023. Peripheral venous blood samples (3 mL) were collected, and genomic DNA was extracted. The number of CGG repeats in the FMR1 gene was determined using the triplet-primed polymerase chain reaction (TP-PCR) combined with capillary electrophoresis technology. Statistical analyses were performed to assess the prevalence and distribution of CGG repeat expansions. Results:Among 16 610 women of childbearing age, 5 684 (34.220%) women had the same number of CGG repeats in the two alleles of FMR1 gene, and 10 926 (65.780%) women had different numbers of repeats in the two alleles. Among the 33 220 FMR1 alleles in 16 610 women of reproductive age, the most common CGG repeat numbers were 29 [48.645% (16 160/33 220)] and 30 [26.276% (8 729/33 220)], while the most frequent CGG genotype was CGG 29/29 [24.726% (4 107/16 610)]. The CGG repeat numbers of FMR1 gene were normal in 16 498 women (99.326%). Among the 112 women (0.674%) with CGG repeat abnormities, 96 (0.578%) women were classified as intermediate carriers, 15 (0.090%) as premutation carriers, and 1 (0.006%) as a full mutation carrier, whose CGG genotype was (36, >200). Conclusion:In the general reproductive-age female population in China, the normal CGG repeat numbers of the FMR1 gene account for 99.326%, while the intermediate carrier rate is 0.578%, and the combined carrier rate of the premutation and full mutation types is 0.096%.

Objective:To carry out carrier screening among people of childbearing age, detect the pathogenic genes of monogenic genetic diseases and analyze the carrier status of pathogenic variants, so as to provide fertility guidance and intervention measures for high-risk families.Methods:From August 2022 to August 2023, 1 533 families of childbearing age who met the criteria were recruited in the Chinese PLA General Hospital, including a total of 3 044 subjects. According to the standard enrollment procedure, 223 genes (197 autosomal recessive genes and 26 X-linked genes) of the subjects were tested. According to the screening results, genetic counseling and fertility guidance were provided to the subjects. Invasive prenatal diagnosis was performed for high-risk couples (both couples being carriers of the same autosomal recessive disease gene or the woman was a carrier of X-linked disease gene), and their pregnancy pattern, outcome and offspring phenotype were followed up.Results:(1) A total of 3 044 cases from 1 511 couples and women of childbearing age from 22 families were included for carrier screening. Totally 1 503 families chose simultaneous screening and 30 families chose sequential screening out of the 1 533 families. Among the 3 044 subjects, 1 603 individuals carried at least one pathogenic or likely pathogenic variant, and the overall carrier rate was 52.66% (1 603/3 044). A total of 2 292 pathogenic or likely pathogenic variants were detected, and 0.75 variants (2 292/3 044) were detected per capita. (2) The three genes with the highest carrier rates were GJB2 (8.67%, 264/3 044), CYP21A2 (3.19%, 97/3 044) and PAH (3.09%, 94/3 044). There were 32 genes with a carrier rate ≥1/200, 17 genes with a carrier rate ≥1/100, and 7 genes with a carrier rate ≥1/50. (3) Thirty-eight high-risk families were identified. After excluding G6PD gene mutation, there were 33 high-risk families, of which 25 couples were carriers of the same autosomal recessive gene, 9 women were carriers of X-linked gene, and 1 family was double high-risk couple with both autosomal recessive and X-linked gene. After further excluding the GJB2 c.109G>A mutation, 21 high-risk families were identified. Preimplantation genetic testing for monogenic disease was performed in 12 families after genetic counseling. Prenatal diagnosis was completed in 4 out of 5 high-risk families who conceived naturally. Two fetuses carried the parental variants and terminated the pregnancy, one fetus did not carry the parental variants but was induced due to trisomy 21 syndrome, and one fetus was a carrier of congenital disorders of glycosylation type 1a.Conclusions:Carrier screening effectively identifies high-risk genetic disease families and provides reproductive guidance to prevent the birth of affected children. However, establishing multidisciplinary team is essential for managing complex cases. Implementation should prioritize prenatal institutions with genetic counseling or diagnostic expertise for monogenic disorders or established referral networks.

Objective·To monitor postoperative blood glucose(BG)and blood lipids(BL)at multiple time points in pediatric patients undergoing liver transplantation(LT)and to analyze the influencing factors.Methods·An observational study was conducted,including pediatric LT patients from the Hepatic Surgery Department of Renji Hospital,Shanghai Jiao Tong University School of Medicine.Blood samples were collected one day before surgery and on days 1,7,and 14 after surgery.Basic patient information and laboratory indicators were recorded,including complete blood count(CBC),cytochrome P450(CYP)genotyping,tacrolimus dosage(TD),tacrolimus serum drug level(TSDL),fasting blood glucose(FBG),2-hour postprandial blood glucose(PBG),and biochemical testing for liver transplantation(BTLT).BTLT included the following indicators:total protein(TP),albumin(ALB),alanine aminotransferase(ALT),aspartate aminotransferase(AST),alkaline phosphatase(AKP),transglutaminase(GGT),direct bilirubin(DBil),total bilirubin(TBil),creatinine(Cr),triglyceride(TAG),total cholesterol(TC),prothrombin time(PT),and international normalized ratio(INR).The t-test or Mann-Whitney U test was used to analyze factors influencing PBG,Cox regression analysis was used to analyze factors influencing FBG,and logistic regression analysis was used to analyze factors influencing TC.Results·A total of 82 pediatric LT patients were included,with 45 males(54.9%)and 37 females(45.1%).The average age was 7 months,average height was 65 cm,and average body weight was 7.15 kg.FBG[(6.54±1.71)mmol/L]and PBG[(7.42±2.19)mmol/L]reached their highest values on the first postoperative day and gradually decreased to normal levels.There were 59 patients in the normal FBG and PBG groups and 23 in the abnormal groups.TAG[(0.93±0.63)mmol/L]and TC[(1.91±1.08)mmol/L]reached their lowest values on the first postoperative day and then slowly increased.The t-test indicated that TP(P=0.050),AKP(P=0.020),GGT(P=0.002),TC(P=0.017),and TD(P=0.028)showed statistically significant differences between the normal and abnormal PBG groups.Cox regression analysis showed that gender(HR=0.501,95%CI 0.184?1.361),age(HR=0.972,95%CI 0.876?1.079),height(HR=1.012,95%CI 0.903?1.135),body weight(HR=1.067,95%CI 0.720?1.579),and blood type(A type HR=1.294,95%CI 0.464?3.612;B type HR=1.303,95%CI 0.456?3.723;AB type HR=1.520,95%CI 0.310?7.441)did not significantly affect the BG's time change process.Logistic regression analysis showed that the patient's CYP(1×3 OR=9.332,95%CI 0.960?90.719;3×3 OR=18.083,95%CI 1.414?231.219)was a factor influencing TC.Conclusion·TD is a factor influencing PBG on the first postoperative day,and the patient's CYP is a factor influencing TC on the same day.

Objective:To investigate the distribution of CGG repeat numbers in the FMR1 gene among reproductive-age women in China, providing data reference for carrier screening and genetic counseling of Fragile X syndrome. Methods:This cross-sectional study recruited 16 610 reproductive-age women from 12 medical institutions between July 2022 and October 2023. Peripheral venous blood samples (3 mL) were collected, and genomic DNA was extracted. The number of CGG repeats in the FMR1 gene was determined using the triplet-primed polymerase chain reaction (TP-PCR) combined with capillary electrophoresis technology. Statistical analyses were performed to assess the prevalence and distribution of CGG repeat expansions. Results:Among 16 610 women of childbearing age, 5 684 (34.220%) women had the same number of CGG repeats in the two alleles of FMR1 gene, and 10 926 (65.780%) women had different numbers of repeats in the two alleles. Among the 33 220 FMR1 alleles in 16 610 women of reproductive age, the most common CGG repeat numbers were 29 [48.645% (16 160/33 220)] and 30 [26.276% (8 729/33 220)], while the most frequent CGG genotype was CGG 29/29 [24.726% (4 107/16 610)]. The CGG repeat numbers of FMR1 gene were normal in 16 498 women (99.326%). Among the 112 women (0.674%) with CGG repeat abnormities, 96 (0.578%) women were classified as intermediate carriers, 15 (0.090%) as premutation carriers, and 1 (0.006%) as a full mutation carrier, whose CGG genotype was (36, >200). Conclusion:In the general reproductive-age female population in China, the normal CGG repeat numbers of the FMR1 gene account for 99.326%, while the intermediate carrier rate is 0.578%, and the combined carrier rate of the premutation and full mutation types is 0.096%.

AIM: To compare the efficacy, safety, and complications of 27G and 25G vitrectomy in the treatment of rhegmatogenous retinal detachment(RRD)involving the macular area.METHODS:This retrospective study analyzed 60 patients(60 eyes)initially diagnosed with RRD involving the macular area and undergoing 25G or 27G vitrectomy combined with retinal reattachment at our hospital from January 2021 to December 2023. Patients were divided into 25G group(30 eyes)and 27G group(30 eyes). Best corrected visual acuity(BCVA), intraocular pressure(IOP), surgical duration, retinal reattachment rate and complications of both groups of patients were compared before and after surgery.RESULTS: The mean surgical time in the 27G group was slightly longer than in the 25G group(40.20±7.52 vs 36.97±7.47 min). Incision leakage occurred in 7 eyes(23%)in the 25G group versus 1 eye(3%)in the 27G group, though the difference was not statistically significant between two groups(P>0.05). At 6 mo postoperatively, BCVA(LogMAR)improved significantly in both groups(27G: 0.37±0.19 vs preoperative 0.98±0.32; 25G: 0.40±0.17 vs preoperative 0.84±0.33; all P<0.05), with no statistical difference in BCVA(P>0.05). At 1 d postoperatively, the 25G group had lower mean IOP(12.29±2.86 mmHg)compared to the 27G group(15.87±3.70 mmHg; P<0.001), but no differences were observed at 1 wk or 1 mo postoperatively(all P>0.05). Retinal reattachment rates and complications(intra- or postoperative)showed no significant intergroup differences(all P>0.05).CONCLUSION: Both 25G and 27G vitrectomy are safe and effective in treating rhegmatogenous retinal detachment. However, the 27G vitrectomy offers advantages such as small incisions, better self-sealing properties, and more stable IOP.

Objective: To understand the occurrence and predictive factors of depressive symptoms among multi ethnic middle school students in Yunnan Province, so as to provide a referential framework for schools to carry out targeted mental health education. Methods: From October to December 2022, 8 500 first grade students from 23 middle schools were selected from 11 minority areas in Yunnan Province by cluster random sampling method. Demographic information and data relating to the students lifestyles were collected by questionnaire, and the Children s Depression Inventory (CDI) was used to evaluate depressive symptoms. Chi square test was performed to compare differences in the detection rate of depressive symptoms among first grade middle school students for univariate analysis. A decision tree model of depressive symptoms in middle school students was established by using the Chi squared automatic interaction detector (CHAID). Results: The detection rate of depressive symptoms among first grade students from multi ethnic middle schools in Yunnan Province was 28.26%. The decision tree model of depressive symptoms was academic stress ( χ 2=469.08) at the first level, breakfast behaviors (low/moderate academic stress: χ 2=155.49; severe academic stress: χ 2=105.24) at the second level, and the number of close friends (low/moderate academic stress and consuming breakfast 0- 2 days weekly: χ 2=23.15; low/moderate academic stress and consuming breakfast 3-4 days weekly: χ 2=14.99; severe academic stress and consuming breakfast 0-2 days weekly: χ 2=29.26; severe academic stress and consuming breakfast 3-4 days weekly: χ 2=20.15), ethnicity ( χ 2=78.22) and drinking ( χ 2=50.36) at the third level ( P <0.01). Conclusions The study identifies academic stress, breakfast behaviors, number of close friends, drinking and ethnicity as predictive factors of depressive symptoms among multi ethnic middle school students in Yunnan Province. Schools should develop targeted strategies for preventing and managing depressive symptoms in middle school students, so as to reduce their occurrence.

Objective:On the basis of summarizing the previous studies on the access and pricing strategies of multi-indication drugs,based on the actual situation in China,it develops the access and pricing strategies of multi-indication drugs applicable to the adjustment mechanism of China's health insurance catalog and carry out feasibility analysis,with a view to providing methodological support for the national health insurance department in the adjustment of the health insurance catalog in the future.Methods:First,through literature review and expert survey,it sorts out the medical insurance access and pricing strategies for multi-indication drugs that may be applicable in China.Secondly,a feasibility evaluation framework for National Drug Insurance List(NRDL)access and pricing strategies for multi-indication drugs is constructed through literature review,and various stakeholders in the NRDL process are invited to conduct feasibility scores based on the questionnaire.In addition,9 pathways are identified through expert research,and various stakeholders in NRDL process are invited to conduct path analysis based on questionnaires.Finally,relevant recommendations are formed based on the research results.Results:According to the results of the feasibility evaluation the direct access is less feasi-ble,while negotiated access and simplified negotiated access are comparable;pricing by weighted average was less feasible,pricing by primary indication and pricing by minimum value are comparable.The results of the pathway analysis show that differences in health insurance access and pricing strategies for selecting drugs with multiple indications under different pathways.Conclusion:It is needed to refine the medical insurance access and price calculation methods for drugs with multiple indications;improve the database construction to support refined calculation of medical insurance;and actively explore the innovative payment methods for medical insurance with multiple indications.

ObjectiveTo explore the characteristics and major factors influencing mental health literacy (MHL) among non-graduating middle school and high school students in Taizhou, Zhejiang Province, and to provide a reference for the promotion of mental health literacy among adolescents. MethodsFrom September to October 2023, a stratified random cluster sampling method was used to conduct a questionnaire survey among students from three classes each in non-graduating grades in four middle schools and four high schools in Taizhou, Zhejiang Province. The survey included basic demographic information, a Structured Mental Health Literacy Questionnaire (MHLQ), and other psychological scales [Educational Stress Scale for Adolescents (ESSA), Perceived Choice Single Scale (PC), Child Depression Inventory (CDI), Generalized Anxiety Disorder (GAD), The University of California at Los Angeles 3-item Loneliness Scale (UCLA-3) and Multidimensional Scale of Perceived Social Support (MSPSS)]. t-tests, chi-square tests, analysis of variance (ANOVA), and multiple linear regressions were applied for the statistical analysis of the data. ResultsThe mental health literacy average score of 2 094 students was (82.3±15.8) points, with a mean of (4.1±0.8) points. The dimension of belief in mental health rights had the highest score. There were significant differences in the mental health literacy score across different dimensions for students with different household registration, economic levels, academic performance, and father’s education level (P<0.001). Multiple linear regression analysis indicated that rural household registration, lower paternal education level, greater academic pressure, a weaker sense of control over one’s behavior, less social support, and symptoms of loneliness, depression, or anxiety were associated with poorer mental health literacy among the students. ConclusionThe mental health literacy of middle school and high school students in Taizhou is generally good, but there are differences among students with different characteristics. Targeted interventions should be carried out for students from rural areas, with poorer mental health, and less low social support to improve the overall mental health literacy of adolescents.