Objective To investigate the relationship between plasma homocysteine(Hcy)levels and cognitive impairment(CI).Methods From November 2018 to January 2019,baseline data and cognitive function were collected from the participants aged≥40 years who lived in two villages in Huyi District,Xi'an,China.Their global cognitive function was assessed by Mini-Mental State Examination(MMSE)and the diagnosis of cognitive impairment was based on international guidelines.Fasting blood was collected in the morning,and plasma Hcy level was measured by the chemiluminometric assay.Multivariate Logistic regression analysis,subgroup analysis,and interaction analysis were performed to investigate the relationship between plasma Hcy and CI.Results A total of 1 805 subjects were included in the analysis.There were 1 056 females(58.5％),age ranged from 40 to 88 years[mean(58.99±9.52)years],and 145 participants(8.0％)were diagnosed as CI.The median plasma Hcy level in the overall population was 14.1(11.6,17.8)μmol/L.There were 729(40.4％)subjects in the HHcy group(＞15.0 μmol/L)and 1 076(59.6％)in the normal group(≤15.0 μmol/L).Univariate analysis showed that the prevalence of CI was higher in the HHcy group than in the normal Hcy group(11.4％vs.5.8％,P＜0.001).In multivariable Logistic regression fully adjusted for potential confounders,each 1 μmol/L increase in plasma Hcy level was associated with a 3.0％increased risk of CI(OR=1.030,95％CI:1.012-1.048,P=0.001).Interaction analysis indicated that sex,age,BMI,systolic blood pressure,history of stroke,and diabetes did not significantly modify this association.Conclusion Elevated plasma Hcy levels are associated with an increased risk of CI in people aged≥40 years.This indicates that HHcy may be a risk factor for CI.

Objective To investigate the relationship between plasma homocysteine(Hcy)levels and cognitive impairment(CI).Methods From November 2018 to January 2019,baseline data and cognitive function were collected from the participants aged≥40 years who lived in two villages in Huyi District,Xi'an,China.Their global cognitive function was assessed by Mini-Mental State Examination(MMSE)and the diagnosis of cognitive impairment was based on international guidelines.Fasting blood was collected in the morning,and plasma Hcy level was measured by the chemiluminometric assay.Multivariate Logistic regression analysis,subgroup analysis,and interaction analysis were performed to investigate the relationship between plasma Hcy and CI.Results A total of 1 805 subjects were included in the analysis.There were 1 056 females(58.5％),age ranged from 40 to 88 years[mean(58.99±9.52)years],and 145 participants(8.0％)were diagnosed as CI.The median plasma Hcy level in the overall population was 14.1(11.6,17.8)μmol/L.There were 729(40.4％)subjects in the HHcy group(＞15.0 μmol/L)and 1 076(59.6％)in the normal group(≤15.0 μmol/L).Univariate analysis showed that the prevalence of CI was higher in the HHcy group than in the normal Hcy group(11.4％vs.5.8％,P＜0.001).In multivariable Logistic regression fully adjusted for potential confounders,each 1 μmol/L increase in plasma Hcy level was associated with a 3.0％increased risk of CI(OR=1.030,95％CI:1.012-1.048,P=0.001).Interaction analysis indicated that sex,age,BMI,systolic blood pressure,history of stroke,and diabetes did not significantly modify this association.Conclusion Elevated plasma Hcy levels are associated with an increased risk of CI in people aged≥40 years.This indicates that HHcy may be a risk factor for CI.

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 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%.

This paper summarizes the experience of professor DING Yuanqing in treating post-stroke depression （PSD） of young and middle-aged patients with the method of regulating qi and promoting blood circulation. PSD is a syndrome resulting by vascular injury and impairment of brain marrow and vital activity after the stroke. Factors such as poor lifestyle， improper control of chronic diseases and sleep disorders，etc.，which can be harmful individually， or they can interact. Over time，these factors can block yang of defensive qi，obstract blood circulationg and disturb qi movement. Reverse ascending of defensive qi can generate wind and fire，generate phlegm and stasis from the fluid the blood. Qi stagnation， phlegm and stasis can combined with stagnation heat， phlegm heat， blood stasis heat which caused by stroke ， which can further aggravate pulse accumulation， damage the blood vessels and block the collaterals. Consequently， defensive qi is floating over and nutrient qi is not smooth， resulting in inadequate nourishment of the brain marrow，and disfunction of vital activity， causing depressive symptoms. Professor DING innovatively applied the method of regulating qi and promoting blood circulation. He selected the classic prescriptions such as Guizhi Decoction（桂枝汤）， Baoyuan Decoction（保元汤）， as well as self-fitting prescriptions like Erdan Decoction（二丹汤）， Erzhu Decoction（二竹汤）， to relieve qi and tonify qi，promote harmonious blood circulation， facilitate vasodilation， ease symptoms of depression， invigorate the mind， and provide an effective treatment for PSD.

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 explore the relationship between lifestyle and myopia and construct Nomogram model to predict myopia risk among primary school students in Tianjin, so as to provide a scientific basis for precision myopia prevention and control. Methods: From April to July of 2022, a census method was used to conduct vision testing and lifestyle related questionnaires among 373 180 primary school students in 15 districts of Tianjin. The relationship between lifestyle and myopia was analyzed by the multivariate Logistic regression, and a nomogram prediction model was constructed to predict myopia risk. Results: The detection rate of myopia among primary school students in Tianjin was 37.6%. The results of the multivariate Logistic regression showed that daily outdoor activity time of 1-2 h ( OR =0.94) and >2 h ( OR =0.84), time of using daily electronic devices of >2 h ( OR =1.03), daily paper materials reading and writing time of 1-2 h ( OR =1.02) and >2 h ( OR =1.09), weekly fresh vegetable intake of 2-6 times ( OR =0.93) and ≥7 times ( OR =0.88) were statistically correlated with myopia ( P <0.01). The Nomogram prediction model showed that the factors associated with myopia were grade, family history of myopia, gender, daily outdoor activity time, weekly frequency of fresh vegetable intake, daily paper materials reading and writing time, and time of using daily electronic devices time. Conclusions The lifestyle of primary school students in Tianjin is associated with myopia. The constructed nomogram model could provide a scientific basis for identifying key intervention populations for myopia prevention and taking targeted prevention and control measures.

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 analyze the association between multiple loci of genes and the risk of early⁃onset pre⁃ eclampsia (EOPE) with pregnancy induced hypertension. Methods : Among 382 EOPE patients who had lived in Yanbian area for more than 10 years , 192 patients were randomly selected as case group. At the same time , 192 cases of natural delivery in the hospital were randomly selected as the control group. PCR⁃RFLP method was used to determine the specific genotype and allele distribution information , and non⁃conditional Logistic method was used to obtain odds ratio (OR) and 95% confidence interval (CI) to confirm the risk of various genotypes. Results : There were two alleles of T and C at the GRB2 rs8082005 locus , TC , TT , and CC genotypes. There were two alleles of T and C at the RXRA rs3849222 locus , TC , TT , and CC genotypes. Through unconditional logistic regression analysis , in the GRB2 rs8082005 locus , compared with the TT genotype , the CC genotype was more susceptible to EOPE ( OR = 3. 155 , 95% CI = 1. 513 - 6. 579 , P = 0. 002) . In the explicit model , compared to patients with TT+ TC genotype , patients with CC genotype increased the risk of EOPE ( OR = 3. 000 , 95% CI = 1. 495 - 6. 022 , P = 0. 002) . In the RXRA rs3849222 locus , compared with the CC genotype , the TT genotype was more susceptible to EOPE ( OR = 2. 031 , 95% CI = 1. 077 - 3. 820 , P = 0. 028) . In the invisible model , compared to patients with CC + CT genotype , patients with TT genotype had an increased risk of EOPE ( OR = 2. 549 , 95% CI = 1. 421 - 4. 573 , P = 0. 002) . Conclusion There is a significant correlation between single nucleotide polymorphism (SNP) at the GRB2 rs8082005 and RXRA rs3849222 loci and the risk of EOPE in pregnant women with gestational hypertension in Yanbian area.

Objective:To investigate the effect of polypeptide N-acetylgalactosaminaminyltransferase 2 (GALNT2) on the proliferation and apoptosis of human retinal vascular endothelial cells (HRCECs) cultured in high glucose and its possible mechanism.Methods:The small hairpin RNA (shRNA) targeting GALNT2 gene was constructed to interfere with the lentiviral vector and infect HRCECs.HRCECs were divided into blank control group, model group, NC-shGALNT2 group and shGALNT2 group, which were cultured in medium containing 5.5 mmol/L glucose, 25 mmol/L glucose, shGALNT2 negative control virus 25 mmol/L glucose and shGALNT2 knockdown virus 25 mmol/L glucose for 24 hours, respectively.The relative expression of GALNT2 mRNA in the four groups was detected by real-time fluorescence quantitative PCR.The relative expression levels of GALNT2, epidermal growth factor (EGF), EGF receptor (EGFR) and phosphorylated EGFR (p-EGFR) were detected by Western blot.The proliferative values of HRCECs were detected by cell counting kit-8 method.The apoptosis rate of different groups was detected by flow cytometry. Results:The relative expression levels of GALNT2 mRNA and protein were significantly higher in model group than in blank control group, and were significantly lower in shGALNT2 group than in blank control group (all at P<0.05). The cell proliferation value was significantly lower in model group than in blank control group, and was significantly higher in shGALNT2 than in model group and NC-shGALNT2 group (all at P<0.05). The apoptosis rates of blank control group, model group, NC-shGALNT2 group and shGALNT2 group were (4.73±0.26)%, (8.66±0.25)%, (9.26±1.12)% and (5.47±0.18)%, respectively, with a significant overall difference ( F=342.921, P<0.001). The apoptosis rate was significantly higher in model group than in blank control group, and was significantly lower in shGALNT2 group than in model group and NC-shGALNT2 group (all at P<0.05). The relative expression level of EGFR protein was significantly higher and the relative expression level of p-EGFR protein was significantly lower in model group than in blank control group (all at P<0.05). The relative expression of p-EGFR protein was significantly higher in shGALNT2 group than in model group (all at P<0.05). Conclusions:Knocking down GALNT2 can improve the proliferative ability of HRCECs under high glucose culture and reduce apoptosis, which may be related to the activation of EGFR signaling pathway.