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 analyze the trends in disease burden and risk factors of depression among the elderly population in China from 1990 to 2021,and to provide a theoretical basis for the prevention,treatment,and policy-making of geriatric depression in China.Methods Data on the disease burden of geriatric depres-sion in China from 1990 to 2021,including the number of incident cases,disability-adjusted life years(DALYs),incidence rate,and DALY rate,were extracted from the 2021 Global Burden of Disease(GBD)database.The Joinpoint regression model was used to analyze the trends by calculating the annual percentage change(APC)and average annual percentage change(AAPC).The autoregressive integrated moving average(ARIMA)model was employed to predict the disease burden of geriatric depression over the next five years.Population attributable fractions(PAFs)were used to describe the risk factors for geriatric depression in China in 1990 and 2021.Results From 1990 to 2021,the number of incident cases and the incidence rate of geri-atric depression in China showed an overall upward trend.The most significant increase in incidence was ob-served in the 60-64 age group,while the prevalence rate increased notably in the ≥ 95 age group.The DALY rate showed the most pronounced upward trend in the 65-69 age group.The incidence,prevalence,and DALY rates of geriatric depression were higher in women than in men.Major risk factors included child-hood sexual abuse and intimate partner violence,with the impact of intimate partner violence being particular-ly significant among women.The ARIMA model predicted that the incidence,prevalence,and DALY rates of geriatric depression in China would decline over the next five years,with a greater decline observed in women than in men.Conclusions From 1990 to 2021,the incidence,prevalence,and DALY rates of geriatric de-pression in China showed an overall upward trend,with higher rates observed in women than in men.Greater attention should be paid to the elderly female population,with a focus on early prevention to reduce the dis-ease burden of geriatric depression.

Objective:To analyze the effects of biodegradable-polymer sirolimus-eluting stents (BP-SES) and durable polymer sirolimus-eluting stents (DP-SES) implantation on serum endothelin 1 levels and the incidence of coronary restenosis in patients with coronary heart disease (CHD).Methods:A total of 114 patients with CHD admitted to the First People's Hospital of Xianyang in Shaanxi Province from May 2022 to January 2024 were selected. According to the principle of comparable baseline characteristics between groups, patients were divided into two groups by random number table method, with 57 cases in each group. After pretreatment of diseased vessels, DP-SES group underwent implantation of DP-SES with appropriate length and diameter, while BP-SES group underwent implantation of BP-SES with appropriate length and diameter. After implantation, non-compliant balloons were used for in-stent post-dilation. Comparisons of vascular endothelial function, levels of inflammatory factors and hemodynamic indicators before operation and at 6 months between groups were made postoperatively, also, the incidence rates of major adverse cardiovascular events (MACE) and coronary restenosis within 6 months were also compared. Measurement data with normal distribution was expressed as “xˉ±s”, independent sample t-test was used on comparison between groups, paired t-test was used for intra-group comparisons before and after treatment. Counting data was expressed as rate or composition ratio, χ2 test was used on comparison between groups. Results:At 6 months after surgery, the levels of endothelin 1 and VEGF were lower in BP-SES group compared to DP-SES group,[(72±5) ng/L vs. (77±7) ng/L, (147±25) ng/L vs. (157±27) ng/L, t=3.76, P<0.001, t=2.16, P=0.033]. The level of nitric oxide was higher in BP-SES group compared to DP-SES group [(79±7) μmol/L vs. (76±8) μmol/L, t=2.46, P<0.001]. At 6 months after surgery, the levels of TNF-α, IL-1 and CRP in DP-SES group were higher than those before surgery, and were all higher compared to BP-SES group[(81±5) ng/L vs. (75±5) ng/L, (159±18) ng/L vs. (151±16) ng/L, (31±4) mg/L vs. (29±3) mg/L, t=6.87, P<0.001, t=2.24, P=0.027, t=2.51, P=0.014]. At 6 months after surgery, the level of whole blood viscosity and plasma viscosity in both group were lower than those before surgery, and the level of Hct in BP-SES group was lower than those before surgery, the differences were statistically significant ( P<0.001), while the differences between groups were not statistically significant( P>0.05). The difference of incidence rates of MACE and coronary restenosis within 6 months between groups before surgery and 6 months after surgery were not statistically significant [7.0%(4/57) vs. 12.3%(7/57), χ2=0.91, P=0.341; 3.7%(2/57) vs. 8.3%(5/57), χ2=0.61, P=0.443]. Conclusion:Both BP-SES implantation and DP-SES implantation could effectively restore coronary blood supply, and are highly safe. However, the former can reduce damage to vascular wall and better improve endothelial function in patients.

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 analyze the effects of biodegradable-polymer sirolimus-eluting stents (BP-SES) and durable polymer sirolimus-eluting stents (DP-SES) implantation on serum endothelin 1 levels and the incidence of coronary restenosis in patients with coronary heart disease (CHD).Methods:A total of 114 patients with CHD admitted to the First People's Hospital of Xianyang in Shaanxi Province from May 2022 to January 2024 were selected. According to the principle of comparable baseline characteristics between groups, patients were divided into two groups by random number table method, with 57 cases in each group. After pretreatment of diseased vessels, DP-SES group underwent implantation of DP-SES with appropriate length and diameter, while BP-SES group underwent implantation of BP-SES with appropriate length and diameter. After implantation, non-compliant balloons were used for in-stent post-dilation. Comparisons of vascular endothelial function, levels of inflammatory factors and hemodynamic indicators before operation and at 6 months between groups were made postoperatively, also, the incidence rates of major adverse cardiovascular events (MACE) and coronary restenosis within 6 months were also compared. Measurement data with normal distribution was expressed as “xˉ±s”, independent sample t-test was used on comparison between groups, paired t-test was used for intra-group comparisons before and after treatment. Counting data was expressed as rate or composition ratio, χ2 test was used on comparison between groups. Results:At 6 months after surgery, the levels of endothelin 1 and VEGF were lower in BP-SES group compared to DP-SES group,[(72±5) ng/L vs. (77±7) ng/L, (147±25) ng/L vs. (157±27) ng/L, t=3.76, P<0.001, t=2.16, P=0.033]. The level of nitric oxide was higher in BP-SES group compared to DP-SES group [(79±7) μmol/L vs. (76±8) μmol/L, t=2.46, P<0.001]. At 6 months after surgery, the levels of TNF-α, IL-1 and CRP in DP-SES group were higher than those before surgery, and were all higher compared to BP-SES group[(81±5) ng/L vs. (75±5) ng/L, (159±18) ng/L vs. (151±16) ng/L, (31±4) mg/L vs. (29±3) mg/L, t=6.87, P<0.001, t=2.24, P=0.027, t=2.51, P=0.014]. At 6 months after surgery, the level of whole blood viscosity and plasma viscosity in both group were lower than those before surgery, and the level of Hct in BP-SES group was lower than those before surgery, the differences were statistically significant ( P<0.001), while the differences between groups were not statistically significant( P>0.05). The difference of incidence rates of MACE and coronary restenosis within 6 months between groups before surgery and 6 months after surgery were not statistically significant [7.0%(4/57) vs. 12.3%(7/57), χ2=0.91, P=0.341; 3.7%(2/57) vs. 8.3%(5/57), χ2=0.61, P=0.443]. Conclusion:Both BP-SES implantation and DP-SES implantation could effectively restore coronary blood supply, and are highly safe. However, the former can reduce damage to vascular wall and better improve endothelial function in patients.

Objective:To examine the risk factors and predictive value of depression following mild acute ischemic stroke in elderly individuals.The aim is to enhance early identification and intervention, ultimately leading to improved prognosis.Methods:A case-control study was conducted on 988 elderly patients with mild acute ischemic stroke.The study collected general population and social data, as well as clinical laboratory data such as blood glucose, blood lipids, and AD7C-NTP in urine.Additionally, the patients underwent assessments using the Montreal Cognitive Assessment Scale(MoCA), National Institutes of Health Stroke Scale(NHISS), Barthel index(BI), Hamilton Anxiety Scale(HAMA), and Hamilton Depression Scale(HAMD).Based on the HAMD depression scale score, the patients were divided into a nopost-stooke depression(NPSD)group and a post-stooke depression(PSD)group.The study then analyzed the related risk factors and predictive value of PSD.Results:A total of 988 patients were eligible for inclusion, with 132 being excluded and 856 being included.The NPSD and PSD groups showed significant differences in age, hypertension, smoking history, education level, and stroke history(all P<0.05).Regarding clinical data, there were statistically significant differences between the two groups in total cholesterol(TC), triacylglycerol(TG), HDL, urinary AD7C-NTP, MoCA, and HAMA scores(all P<0.05).The results of the multi-factor logistic regression analysis revealed that gender( OR=1.975, 95% CI: 1.223-3.190, P=0.005), stroke history( OR=1.352, 95% CI: 0.877-2.086, P=0.042), and HAMA score( OR=1.216, 95% CI: 0.932-1.526, P=0.043)were identified as independent risk factors for post-stroke depression in the elderly.Conversely, MoCA score( OR=0.873, 95% CI: 0.814-0.937, P<0.001)was found to be an independent protective factor.Furthermore, the ROC curve analysis demonstrated that the HAMA score(AUC=0.892, sensitivity: 0.721, specificity: 0.854, cut-off value: 9.5)exhibited significant predictive value, while the other indexes had limited predictive value. Conclusions:Gender, stroke history, and HAMA score have been identified as potential independent risk factors for post-stroke depression(PSD)in the elderly, while MoCA score may serve as an independent protective factor.Notably, HAMA score demonstrates a strong predictive ability for PSD.Early identification of these factors and timely intervention could significantly contribute to improving prognosis.

To analyze the trends in disease burden and risk factors of depression among the elderly population in China from 1990 to 2021, and to provide a theoretical basis for the prevention, treatment, and policy-making of geriatric depression in China.

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 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.

Trace amines(TAs)are metabolically related to catecholamine and associated with cancer and neuro-logical disorders.Comprehensive measurement of TAs is essential for understanding pathological pro-cesses and providing proper drug intervention.However,the trace amounts and chemical instability of TAs challenge quantification.Here,diisopropyl phosphite coupled with chip two-dimensional(2D)liquid chromatography tandem triple-quadrupole mass spectrometry(LC-QQQ/MS)was developed to simul-taneously determine TAs and associated metabolites.The results showed that the sensitivities of TAs increased up to 5520 times compared with those using nonderivatized LC-QQQ/MS.This sensitive method was utilized to investigate their alterations in hepatoma cells after treatment with sorafenib.The significantly altered TAs and associated metabolites suggested that phenylalanine and tyrosine metabolic pathways were related to sorafenib treatment in Hep3B cells.This sensitive method has great potential to elucidate the mechanism and diagnose diseases considering that an increasing number of physiological functions of TAs have been discovered in recent decades.