ObjectiveTo investigate the association between variant degree of sarcopenia and all-cause mortality in Chinese elderly residents, and to provide insights into the prevention and control of sarcopenia in the elderly population. MethodsData from the China Health and Retirement Longitudinal Study (CHARLS) from 2011 and 2020 were analyzed, and a total of 2 792 subjects aged 65 years or older were selected according to the inclusion and exclusion criteria. Univariate and multivariate Cox proportional hazards regression analysis were performed to explore the potential factors influencing all-cause mortality among the elderly in China, and Kaplan-Meier curves were used to visualize the survival of elderly people with variant degree of sarcopenia. Finally, a multiple-adjusted Cox proportional hazards regression model was used to control the confounding factors and explore the association between sarcopenia and all-cause mortality. ResultsBefore adjusting potential covariates, univariate and multivariate Cox proportional hazards regression models showed that 10-year all-cause mortality was significantly associated with variant degree of sarcopenia, namely possible sarcopenia (HR=1.40, 95%CI: 1.1‒1.68, P<0.001), mild-to-moderate sarcopenia (HR=1.49, 95%CI:1.20‒1.86, P<0.001), and severe sarcopenia (HR=1.68, 95%CI: 1.29‒2.19, P<0.001); after adjusting all confounders, 10-year all-cause mortality remained to be significantly associated with variant degree of sarcopenia, including probable sarcopenia (HR=1.38, 95%CI: 1.15‒1.66, P<0.001), mild-to-moderate sarcopenia (HR=1.48, 95%CI: 1.19‒1.84, P<0.001) and severe sarcopenia (HR=1.71, 95%CI: 1.31‒2.23, P<0.001). ConclusionIn Chinese elderly residents, sarcopenia is positively associated with an increased risk of 10-year all-cause mortality, and the progression of sarcopenia is positively associated with an increased risk of death.

Objective To explore the role and mechanism of miR-381 in the pathogenesis of ischemic stroke(IS).Methods A total of 90 patients with IS treated in the First Affiliated Hospital of Hebei North University between January 2020 and December 2022 were selected as the IS group,while 110healthy volunteers were selected as the control group.Real-time fluorescence quantitative polymerase chain reaction(RT-qPCR)was used to detect the difference of serum miR-381 between the two groups,and enzyme-linked immu-nosorbent assay(ELISA)was used to measure the differences of inflammatory markers interleukin-1β(IL-1β),interleukin-6(IL-6),and tumor necrosis factor-α(TNF-α)between the groups.The CCK-8 assay was used to evaluate the effect of miR-381 on the ac-tivity of human umbilical vein endothelial cell(HUVEC).Use TargetScan,Western blot and luciferase reporter assays to validate whether inhibitor of kappa B kinase(IKK)was a target gene regulated by miR-381.An in vitro model of oxygen-glucose deprivation(OGD)was constructed,and the effects of miR-381 over-expression or inhibition on apoptosis-and inflammation-related proteins were de-tected by RT-qPCR and Western blot.The diagnostic value of miR-381 for IS was evaluated using receiver operating characteristic curve(ROC).Results Compared with the control group,the serum miR-381 levels in the IS group were significantly down-regulated(P＜0.05).In comparison to the mild IS group or small infarct volume group,serum miR-381 levels were significantly lower in patients with moderate to severe IS or large infarct volumes(P were＜0.05,＜0.01).Additionally,compared with the control group,the serum levels of IL-1 β,IL-6 and TNF-α in the IS group were significantly higher(P were＜0.01,＜0.05,＜0.01).Furthermore,com-pared to the mild IS group or small infarct volume group,the serum levels of IL-1 β,IL-6,and TNF-α were significantly elevated in patients with moderate to severe IS group or large infarct volume group(P were＜0.01,＜0.05).CCK-8 results indicated that miR-381 promoted the viability of HUVEC.Dual-Luciferase reporter gene assay results demonstrated that IKK was a direct target of miR-381.Western blot results showed that over-expression of miR-381 inhibited the activation of p65 and inhibitor of NF-κB(IKB)pro-teins,promoted the expression of the anti-apoptotic protein B-cell lymphoma 2(Bcl-2),and suppressed the expression of the pro-apoptotic protein Bcl-2 associated X(BAX).RT-qPCR results showed that over-expression miR-381 reduced the levels of NF-κB mRNA and BAX mRNA,and increased the levels of Bcl-2mRNA.ELISA results indicated that over-expression miR-381 decreased the serum levels of TNF-α,IL-6 and IL-1 β(P were＜0.05,＜0.01,＜0.01).ROC curve analysis showed that the sensitivity and specificity of miR-381 for diagnosing IS were 76.23％and 81.25％,respectively.Conclusion miR-381 can inhibit HUVEC apopto-sis and inflammatory responses by targeting IKK,indicating its potential as a therapeutic target for IS.

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%.

Objective To explore the role and mechanism of miR-381 in the pathogenesis of ischemic stroke(IS).Methods A total of 90 patients with IS treated in the First Affiliated Hospital of Hebei North University between January 2020 and December 2022 were selected as the IS group,while 110healthy volunteers were selected as the control group.Real-time fluorescence quantitative polymerase chain reaction(RT-qPCR)was used to detect the difference of serum miR-381 between the two groups,and enzyme-linked immu-nosorbent assay(ELISA)was used to measure the differences of inflammatory markers interleukin-1β(IL-1β),interleukin-6(IL-6),and tumor necrosis factor-α(TNF-α)between the groups.The CCK-8 assay was used to evaluate the effect of miR-381 on the ac-tivity of human umbilical vein endothelial cell(HUVEC).Use TargetScan,Western blot and luciferase reporter assays to validate whether inhibitor of kappa B kinase(IKK)was a target gene regulated by miR-381.An in vitro model of oxygen-glucose deprivation(OGD)was constructed,and the effects of miR-381 over-expression or inhibition on apoptosis-and inflammation-related proteins were de-tected by RT-qPCR and Western blot.The diagnostic value of miR-381 for IS was evaluated using receiver operating characteristic curve(ROC).Results Compared with the control group,the serum miR-381 levels in the IS group were significantly down-regulated(P＜0.05).In comparison to the mild IS group or small infarct volume group,serum miR-381 levels were significantly lower in patients with moderate to severe IS or large infarct volumes(P were＜0.05,＜0.01).Additionally,compared with the control group,the serum levels of IL-1 β,IL-6 and TNF-α in the IS group were significantly higher(P were＜0.01,＜0.05,＜0.01).Furthermore,com-pared to the mild IS group or small infarct volume group,the serum levels of IL-1 β,IL-6,and TNF-α were significantly elevated in patients with moderate to severe IS group or large infarct volume group(P were＜0.01,＜0.05).CCK-8 results indicated that miR-381 promoted the viability of HUVEC.Dual-Luciferase reporter gene assay results demonstrated that IKK was a direct target of miR-381.Western blot results showed that over-expression of miR-381 inhibited the activation of p65 and inhibitor of NF-κB(IKB)pro-teins,promoted the expression of the anti-apoptotic protein B-cell lymphoma 2(Bcl-2),and suppressed the expression of the pro-apoptotic protein Bcl-2 associated X(BAX).RT-qPCR results showed that over-expression miR-381 reduced the levels of NF-κB mRNA and BAX mRNA,and increased the levels of Bcl-2mRNA.ELISA results indicated that over-expression miR-381 decreased the serum levels of TNF-α,IL-6 and IL-1 β(P were＜0.05,＜0.01,＜0.01).ROC curve analysis showed that the sensitivity and specificity of miR-381 for diagnosing IS were 76.23％and 81.25％,respectively.Conclusion miR-381 can inhibit HUVEC apopto-sis and inflammatory responses by targeting IKK,indicating its potential as a therapeutic target for IS.

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.

Objective:To evaluate the value of bedside ultrasound in evaluating volume responsiveness of patients with septic shock.Methods:A total of 102 patients with septic shock admitted to ICU of the First Affiliated Hospital of Hebei North University from April 2018 to February 2021 were selected. Patients were divided into response group and non-response group according to the value of stroke volume increase (ΔSV) after volume loading test (VE), and the hemodynamic parameters before and after VE were compared between the two groups. Pearson correlation was used to analyze the relationship between ΔSV and hemodynamic indexes. Receiver operating characteristic (ROC) curve was drawn to analyze the sensitivity and specificity of each hemodynamic index in evaluating volumetric reactivity in patients with septic shock.Results:Of the 102 patients, 54 responded and 48 did not. Before VE, the distensibility index of inferior vena cava (ΔIVC 1), espiratory variability index of inferior vena cava (ΔIVC 2), respiratory variability of aortic peak velocity (ΔVpeak AO), brachial artery maximum velocity variability (ΔVpeak BA) and respiratory rate of peak flow velocity of femoral artery (ΔVpeak CFA) in response group were higher than those in non-response group (all P<0.05), but there was no statistical significance in heart rate (HR), mean arterial pressure (MAP) and central venous pressure (CVP) between 2 groups (all P>0.05). After VE, the HR, ΔIVC 1, ΔIVC 2, ΔVpeak AO, ΔVpeak BA and ΔVpeak CFA in response group were significantly decreased, while MAP and CVP were significantly increased (all P<0.05). The CVP was significantly decreased in the non-response group ( P<0.05), while other indexes were not significantly changed. Before VE, the ΔIVC 1, ΔIVC 2, ΔVpeak AO, ΔVpeak BA and ΔVpeak CFA were positively correlated with ΔSV ( r=0.589, 0.647, 0.697, 0.621, 0.766; all P<0.05). There was no correlation between CVP and ΔSV ( r=-0.345, P>0.05). Before VE, the area under the curve of ΔIVC 1, ΔIVC 2, ΔVpeak AO, ΔVpeak BA and ΔVpeak CFA were all >0.7, indicating high sensitivity and specificity. Conclusions:Bedside ultrasound monitoring ΔIVC, ΔVpeak AO, ΔVpeak BA and ΔVpeak CFA can better evaluate the volume response of patients with septic shock, and can provide a reference basis for clinical fluid resuscitation treatment.

OBJECTIVE:To observe clinical efficacy and safety of salvianolate in the treatment of acute exacerbation of chron-ic obstructive pulmonary disease(AECOPD). METHODS:80 AECOPD patients were selected and randomly divided into observa-tion group and control group,with 40 cases in each group. Both groups received mechanical ventilation. Control group was given routine treatment of theophyllinum,bronchodilators and glucocorticoid;treatment group was additionally given Salvianolate injec-tion 200 mg,qd,ivgtt,on the basis of control group. Clinical efficacy was observed in 2 groups,blood hemorheology indexes were also observed before and after treatment. The mechanical ventilation time,ICU residence time and ADR were recorded in 2 groups. RESULTS:Clinical total effective rate of observation group was 95.00%,which was significantly higher than 70.00% of control group,with statistical significance(P<0.05). Before treatment and 2 d after treatment,blood rheology indexes of treatment group were improved significantly(all P>0.05),and whole blood reduction viscosity of control group was improved significantly(P<0.05). Mechanical ventilation time and ICU residence time of treatment group was significantly shorter than that of control group (P<0.05). No ADR was found in 2 groups. CONCLUSIONS:Salvianolate can significantly improve the blood coagulation status of AECOPD patients receiving invasive mechanical ventilation,and has the advantages of good clinical efficacy and low cost of medical treatment.

Objective To study effects of doxophylline of different administration methods on weaning time of acute exacerbation of chronic obstructive pulmonary diseases(AECOPD)of A-PACHEⅡ score.Methods 45 patients with AECOPD treated with mechanical ventilation and successful ventilator weaning were selected.In APACHEⅡ<20 patients,13 cases with doxo-fylline by continuous pump were in continuous pump group and 11cases in intravenous drip group;In APACHEⅡ≥20 patients,there were doxofylline by continuous pump with 11 cases and Doxo-fylline by intravenous drip with 10 cases,the effect of ventilator weaning time in different A-PACHEⅡscore between doxofylline by continuous pump and intravenous drip were observed.Re-sults The ventilator weaning time of doxofylline by continuous pump and intravenous drip were compared in APACHEⅡ<20,which was statistically significant difference (P <0.05).but there was no significant difference in APACHEⅡ≥20(P >0.05).Conclusion Ventilator weaning time of AECOPD is influenced by APACHEⅡ score.Continuous pump into doxofylline can obvi-ously relieve mechanical ventilation time in APACHEⅡ<20 and improve the rate of weaning time.