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 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 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 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 establish a method for determining the content of free amino acids and total peptides in Kangfuxin Liquid by HPLC coupled with 6-aminoquinolyl-N-hydroxysuccinimidyl carbamate(AQC)pre-column derivatization,and to evaluate the quality of commercial samples with total peptides as indexes.Methods HPLC separation was performed on Kromasil 100-5 C18 column with mobile phase comprising of 60%acetonitrile(A)and 0.14 mmol·L-1 sodium acetate trihydrate solution(adjusted to pH 5.0 with phosphoric acid)(B)in a gradient elution manner at the flow rate of 1.0 mL·min-1.The column temperature was 39℃.The detection wavelength was 248 nm.Results 14 amino acids(aspartate,glutamic acid,serine,histidine,glycine,arginine,threonine,alanine,proline,valine,lysine,isoleucine,leucine,and phenylalanine)could achieve good separation,and present good linear relationship(r=0.999 5～1.000 0)in the concentration range of 2.0～99.7,3.4～168.5,2.8～139.6,4.0～201.4,4.8～238.1,6.7～336.9,3.3～167.5,9.7～487.3,4.1～202.5,4.4～221.6,5.4～270.5,3.3～166.8,4.8～240.8 and 4.7～236.6 μg·mL-1,respectively.The average recoveries of free amino acids and hydrolyzed amino acids from total peptides were 86.8%～108.1%(n=6)and 83.2%～102.7%(n=6),with RSDs at 2.8%～4.4%and 0.1%～3.1%,respectively.The RSDs of precision,repeatability and stability tests were all lower than 5.0%.Conclusion As compared to ultraviolet spectrophotometry method for the current quality standard,the total amino acids content determined by this method is in consistent to UV.However,this method showed better specificity and reproducibility than UV.When total peptides with biological activity were used as quality control indicators,the pertinence of this method was strengthened.Our study may provide a scientific and reasonable method for the quality control of Kangfuxin Liquid.

Objective To investigate the epidemiological characteristics and mutation spectrum of monogenic diseases in Chinese population through a large-scale,multicenter carrier screening.Methods This study was conducted among a total of 33 104 participants(16 610 females)from 12 clinical centers across China.Carrier status for 223 genes was analyzed using high-throughput sequencing and different PCR methods.Results The overall combined carrier frequency was 55.58%for 197 autosomal genes and 1.84%for 26 X-linked genes in these participants.Among the 16 669 families,874 at-risk couples(5.24%)were identified.Specifically,584 couples(3.50%)were at risk for autosomal genes,306(1.84%)for X-linked genes,and 16 for both autosomal and X-linked genes.The most frequently detected autosomal at-risk genes included GJB2(autosomal recessive deafness type 1A,393 couples),HBA1/HBA2(α-thalassemia,36 couples),PAH(phenylketonuria,14 couples),and SMN1(spinal muscular atrophy,14 couples).The most frequently detected X-linked at-risk genes were G6PD(G6PD deficiency,236 couples),DMD(Duchenne muscular dystrophy,23 couples),and FMR1(fragile X syndrome,17 couples).After excluding GJB2 c.109G>A,the detection rate of at-risk couples was 3.91%(651/16 669),which was lowered to 1.72%(287/16 669)after further excluding G6PD.The theoretical incidence rate of severe monogenic birth defects was approximately 4.35‰(72.5/16 669).Screening for a battery of the top 22 most frequent genes in the at-risk couples could detect over 95%of at-risk couples,while screening for the top 54 genes further increased the detection rate to over 99%.Conclusion This study reveals the carrier frequencies of 223 monogenic genetic disorders in the Chinese population and provides evidence for carrier screening strategy development and panel design tailored to the Chinese population.In carrier testing,genetic counseling for specific genes or gene variants can be challenging,and the couples need to be informed of these difficulties before testing and provided with options for not screening these genes or gene variants.

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.