1.Developing a polygenic risk score for pelvic organ prolapse: a combined risk assessment approach in Chinese women.
Xi CHENG ; Lei LI ; Xijuan LIN ; Na CHEN ; Xudong LIU ; Yaqian LI ; Zhaoai LI ; Jian GONG ; Qing LIU ; Yuling WANG ; Juntao WANG ; Zhijun XIA ; Yongxian LU ; Hangmei JIN ; Xiaowei ZHANG ; Luwen WANG ; Juan CHEN ; Guorong FAN ; Shan DENG ; Sen ZHAO ; Lan ZHU
Frontiers of Medicine 2025;19(4):665-674
Pelvic organ prolapse (POP), whose etiology is influenced by genetic and clinical risk factors, considerably impacts women's quality of life. However, the genetic underpinnings in non-European populations and comprehensive risk models integrating genetic and clinical factors remain underexplored. This study constructed the first polygenic risk score (PRS) for POP in the Chinese population by utilizing 20 disease-associated variants from the largest existing genome-wide association study. We analyzed a discovery cohort of 576 cases and 623 controls and a validation cohort of 264 cases and 200 controls. Results showed that the case group exhibited a significantly higher PRS than the control group. Moreover, the odds ratio of the top 10% risk group was 2.6 times higher than that of the bottom 10%. A high PRS was significantly correlated with POP occurrence in women older than 50 years old and in those with one or no childbirths. As far as we know, the integrated prediction model, which combined PRS and clinical risk factors, demonstrated better predictive accuracy than other existing PRS models. This combined risk assessment model serves as a robust tool for POP risk prediction and stratification, thereby offering insights into individualized preventive measures and treatment strategies in future clinical practice.
Humans
;
Female
;
Pelvic Organ Prolapse/epidemiology*
;
Middle Aged
;
Risk Assessment/methods*
;
China/epidemiology*
;
Multifactorial Inheritance
;
Aged
;
Risk Factors
;
Genome-Wide Association Study
;
Genetic Predisposition to Disease
;
Case-Control Studies
;
Adult
;
Polymorphism, Single Nucleotide
;
Genetic Risk Score
;
East Asian People
2.Multimodal investigation of stress-induced RNA-brain covariance and its association with depression vulnerability
Yun LIU ; Xijuan XIA ; Kehan YAN ; Yang JI ; Yifeng LUO ; Zhihong CAO ; Yuefeng LI
Chinese Journal of Behavioral Medicine and Brain Science 2025;34(9):790-797
Objective:To explore the RNA expression and alterations in brain structure in individuals who have experienced stressful life events (SLE), as well as the correlation patterns between them and their association with the occurrence of depression.Methods:Prospectively, a total of 80 SLE subjects were recruited from the psychiatry and psychology clinic of the Jiangsu University Affiliated Yixing Hospital between January 2021 and December 2022, with 16 normal controls (NC) enrolled concurrently. The 17 items Hamilton depression scale (HAMD-17) and social readjustment rating scale (SRRS) were used to assess depressive symptoms and stress levels. RNA sequencing information of peripheral blood and imaging data at baseline were collected. Based on whether depression occurred during the 2-year follow-up period, SLE subjects were divided into the SLE-depression group ( n=15) and the SLE-non-depression group ( n=65). Differentially expressed genes (DEGs) were screened using differential analysis and protein-protein interaction (PPI) networks. Fractional anisotropy (FA) of white matter tracts and gray matter volume (GMV) were extracted using tract-based spatial statistics and voxel-based morphometry.Using analysis of variance compared inter-group differences in gene expression, GMV and white matter FA values. Partial correlation analysis was used to explore correlations between DEGs, altered GMV and white matter microstructure. Gene set enrichment analysis (GSEA) was performed on key genes to identify potential biological pathways. Propensity score matching constructed sensitivity subgroups to verify result robustness. Results:The SLE-depression group showed significantly higher SRRS and HAMD-17 scores at baseline and at the end of follow-up compared to the SLE-non-depression group and the NC group ( H=47.773, 35.427, 41.114, all P<0.05). Expression levels of IL-10 (2.12±0.28, 2.43±0.44), EZH2 (2.11±0.43, 2.45±0.51), NCAM1 (3.60±0.30, 3.03±0.39), CD3E (4.95±0.37, 4.57±0.48), CCK (3.29±0.28, 3.02±0.42), and CX3CR1 (5.55±0.40, 5.91±0.34) were significantly different between the SLE-depression group and SLE-non-depression group( F=5.549~28.371, all P<0.05). Compared with the SLE-non-depression group, the SLE-depression group exhibited significantly lower FA values in the genu of the corpus callosum (0.29±0.04, 0.31±0.04) and the left uncinate fasciculus (0.31±0.02, 0.33±0.02), as well as significantly smaller GMV in the right hippocampus (0.29±0.07, 0.33±0.06), bilateral middle frontal gyrus (left: 0.27±0.05, 0.31±0.05; right: 0.28±0.06, 0.32±0.06), right insula (0.36±0.03, 0.38±0.04), and left precentral gyrus (0.19±0.04, 0.24±0.05) ( F=4.593-12.064, all P<0.05, FDR correction). GMV in the right anterior cingulate and paracingulate gyri was significantly larger than that in the SLE-non-depression group (0.34±0.05, 0.29±0.06) ( F=6.704, P=0.034, FDR correction). Partial correlation analysis revealed significantly stronger correlations between hub DEGs and altered brain regions in the SLE-depression group ( r=0.017-0.801) compared to the SLE-non-depression group ( r=0.002-0.382), with a statistically significant difference ( U=629, P<0.001; Cliff's Delta=0.454). GSEA indicated that the aforementioned genes were primarily involved in pathways including the ribosome, spliceosome, ribosome biogenesis in eukaryotes, and neuroactive ligand-receptor interaction. Sensitivity analysis confirmed that the above results remained statistically significant after balancing sample sizes (all P<0.05). Conclusion:The SLE-depression group showed specific RNA expression and brain structure alterations compared to the SLE-non-depression group, and the correlation between RNA and brain structure was significantly enhanced in the SLE-depression group. This suggests that the correlation between genes and brain structure in the SLE population may be related to their susceptibility to depression.
3.Multimodal investigation of stress-induced RNA-brain covariance and its association with depression vulnerability
Yun LIU ; Xijuan XIA ; Kehan YAN ; Yang JI ; Yifeng LUO ; Zhihong CAO ; Yuefeng LI
Chinese Journal of Behavioral Medicine and Brain Science 2025;34(9):790-797
Objective:To explore the RNA expression and alterations in brain structure in individuals who have experienced stressful life events (SLE), as well as the correlation patterns between them and their association with the occurrence of depression.Methods:Prospectively, a total of 80 SLE subjects were recruited from the psychiatry and psychology clinic of the Jiangsu University Affiliated Yixing Hospital between January 2021 and December 2022, with 16 normal controls (NC) enrolled concurrently. The 17 items Hamilton depression scale (HAMD-17) and social readjustment rating scale (SRRS) were used to assess depressive symptoms and stress levels. RNA sequencing information of peripheral blood and imaging data at baseline were collected. Based on whether depression occurred during the 2-year follow-up period, SLE subjects were divided into the SLE-depression group ( n=15) and the SLE-non-depression group ( n=65). Differentially expressed genes (DEGs) were screened using differential analysis and protein-protein interaction (PPI) networks. Fractional anisotropy (FA) of white matter tracts and gray matter volume (GMV) were extracted using tract-based spatial statistics and voxel-based morphometry.Using analysis of variance compared inter-group differences in gene expression, GMV and white matter FA values. Partial correlation analysis was used to explore correlations between DEGs, altered GMV and white matter microstructure. Gene set enrichment analysis (GSEA) was performed on key genes to identify potential biological pathways. Propensity score matching constructed sensitivity subgroups to verify result robustness. Results:The SLE-depression group showed significantly higher SRRS and HAMD-17 scores at baseline and at the end of follow-up compared to the SLE-non-depression group and the NC group ( H=47.773, 35.427, 41.114, all P<0.05). Expression levels of IL-10 (2.12±0.28, 2.43±0.44), EZH2 (2.11±0.43, 2.45±0.51), NCAM1 (3.60±0.30, 3.03±0.39), CD3E (4.95±0.37, 4.57±0.48), CCK (3.29±0.28, 3.02±0.42), and CX3CR1 (5.55±0.40, 5.91±0.34) were significantly different between the SLE-depression group and SLE-non-depression group( F=5.549~28.371, all P<0.05). Compared with the SLE-non-depression group, the SLE-depression group exhibited significantly lower FA values in the genu of the corpus callosum (0.29±0.04, 0.31±0.04) and the left uncinate fasciculus (0.31±0.02, 0.33±0.02), as well as significantly smaller GMV in the right hippocampus (0.29±0.07, 0.33±0.06), bilateral middle frontal gyrus (left: 0.27±0.05, 0.31±0.05; right: 0.28±0.06, 0.32±0.06), right insula (0.36±0.03, 0.38±0.04), and left precentral gyrus (0.19±0.04, 0.24±0.05) ( F=4.593-12.064, all P<0.05, FDR correction). GMV in the right anterior cingulate and paracingulate gyri was significantly larger than that in the SLE-non-depression group (0.34±0.05, 0.29±0.06) ( F=6.704, P=0.034, FDR correction). Partial correlation analysis revealed significantly stronger correlations between hub DEGs and altered brain regions in the SLE-depression group ( r=0.017-0.801) compared to the SLE-non-depression group ( r=0.002-0.382), with a statistically significant difference ( U=629, P<0.001; Cliff's Delta=0.454). GSEA indicated that the aforementioned genes were primarily involved in pathways including the ribosome, spliceosome, ribosome biogenesis in eukaryotes, and neuroactive ligand-receptor interaction. Sensitivity analysis confirmed that the above results remained statistically significant after balancing sample sizes (all P<0.05). Conclusion:The SLE-depression group showed specific RNA expression and brain structure alterations compared to the SLE-non-depression group, and the correlation between RNA and brain structure was significantly enhanced in the SLE-depression group. This suggests that the correlation between genes and brain structure in the SLE population may be related to their susceptibility to depression.
4.Efficacy and safety of transcatheter arterial chemoembolization followed by hepatic arterial infusion chemotherapy combined with TKI and PD-1 inhibitors as first-line treatment for advanced hepatocellular carcinoma
Liping ZHANG ; Xijuan LIU ; Xiao HU ; Jiali WANG ; Xihe YU ; Guoliang LI ; Haimin YOU ; Qizhou ZHANG ; Haibo ZHANG
Journal of Southern Medical University 2024;44(9):1831-1838
Objective To evaluate the efficacy and safety of transcatheter arterial chemoembolization(TACE)followed by hepatic arterial infusion chemotherapy(HAIC)combined with TKI drugs and PD-1 inhibitors as the first-line treatment for advanced hepatocellular carcinoma(HCC).Methods We retrospectively analyzed the data of 70 patients with advanced HCC treated in the Department of Oncology of Guangdong Provincial Hospital of Integrated Traditional Chinese and Western Medicine between July,2020 and June,2023.23 of the patients received TACE combined with HAIC and TKI(TACE+HAIC+TKI group)and 47 received TACE combined with HAIC,PD-1 inhibitors and TKI(TACE+HAIC+PD-1+TKI group).The clinical characteristics,laboratory test results,efficacy,outcomes and adverse events of the patients were compared between the two groups.Results The TACE+HAIC+TKI and TACE+HAIC+PD-1+TKI groups had significantly different objective remission rates(ORR;60.87%vs 36.17%,P=0.031),comparable disease control rates(95.65%vs 93.62%,P=0.068),and different median progression-free survival(PFS)time(10.2 vs 11.8 months,P=0.003)and median overall survival(OS)time(15.7 vs 19.5 months,P=0.035).After propensity score matching(PSM),the median PFS and OS time of the two groups was 10.1 vs 14.5 months(P=0.024)and 14.2 vs 21.2 months(P=0.221),respectively.The 1-year PFS rates of the 2 groups were 24.0%vs 52.2%,and the 1-,2-and 3-year OS rates were 72.3%vs 93.1%,23.9%vs 63.8%,and 23.9%vs 36.5%,respectively.The incidence of proteinuria was significantly higher in TACE+HAIC+PD-1+TKI group than in TACE+HAIC+TKI group(21.28%vs 0,P=0.025),but the incidences of grade 3-4 treatment-related adverse events were all similar between the two groups.Conclusion The first-line treatment with TACE+HAIC+PD-1+TKI is safe and effective for advanced HCC and can significantly prolong the survival of the patients.
5.Efficacy and safety of transcatheter arterial chemoembolization followed by hepatic arterial infusion chemotherapy combined with TKI and PD-1 inhibitors as first-line treatment for advanced hepatocellular carcinoma
Liping ZHANG ; Xijuan LIU ; Xiao HU ; Jiali WANG ; Xihe YU ; Guoliang LI ; Haimin YOU ; Qizhou ZHANG ; Haibo ZHANG
Journal of Southern Medical University 2024;44(9):1831-1838
Objective To evaluate the efficacy and safety of transcatheter arterial chemoembolization(TACE)followed by hepatic arterial infusion chemotherapy(HAIC)combined with TKI drugs and PD-1 inhibitors as the first-line treatment for advanced hepatocellular carcinoma(HCC).Methods We retrospectively analyzed the data of 70 patients with advanced HCC treated in the Department of Oncology of Guangdong Provincial Hospital of Integrated Traditional Chinese and Western Medicine between July,2020 and June,2023.23 of the patients received TACE combined with HAIC and TKI(TACE+HAIC+TKI group)and 47 received TACE combined with HAIC,PD-1 inhibitors and TKI(TACE+HAIC+PD-1+TKI group).The clinical characteristics,laboratory test results,efficacy,outcomes and adverse events of the patients were compared between the two groups.Results The TACE+HAIC+TKI and TACE+HAIC+PD-1+TKI groups had significantly different objective remission rates(ORR;60.87%vs 36.17%,P=0.031),comparable disease control rates(95.65%vs 93.62%,P=0.068),and different median progression-free survival(PFS)time(10.2 vs 11.8 months,P=0.003)and median overall survival(OS)time(15.7 vs 19.5 months,P=0.035).After propensity score matching(PSM),the median PFS and OS time of the two groups was 10.1 vs 14.5 months(P=0.024)and 14.2 vs 21.2 months(P=0.221),respectively.The 1-year PFS rates of the 2 groups were 24.0%vs 52.2%,and the 1-,2-and 3-year OS rates were 72.3%vs 93.1%,23.9%vs 63.8%,and 23.9%vs 36.5%,respectively.The incidence of proteinuria was significantly higher in TACE+HAIC+PD-1+TKI group than in TACE+HAIC+TKI group(21.28%vs 0,P=0.025),but the incidences of grade 3-4 treatment-related adverse events were all similar between the two groups.Conclusion The first-line treatment with TACE+HAIC+PD-1+TKI is safe and effective for advanced HCC and can significantly prolong the survival of the patients.
6.Value of optic nerve sheath diameter and optical disk elevation measured by ultrasound in the diagnosis of intracranial hypertension in patients with cerebral venous sinus thrombosis
Bing TIAN ; Jiangang DUAN ; Hongxiu CHEN ; Ran LIU ; Songwei CHEN ; Xijuan PAN ; Yingqi XING
Chinese Journal of Ultrasonography 2023;32(9):790-795
Objective:To investigate the diagnostic value of ultrasonic measurement of optic nerve sheath diameter (ONSD) and optical disk elevation (ODE) for intracranial hypertension in patients with cerebral venous sinus thrombosis(CVST).Methods:A total of 50 patients with CVST who underwent lumbar puncture and ONSD examination in the Department of Neurology and Emergency Department of Xuanwu Hospital, Capital Medical University from January 2021 to December 2021 were retrospectively enrolled. After lumbar puncture, the patient′s initial intracranial pressure was recorded. Normal ICP was defined as ICP between 80 and 200 mmH 2O, and increased ICP was defined as ICP>200 mmH 2O. Fifty patients with CVST were divided into normal ICP group (14 cases) and increased ICP group (36 cases). The differences of baseline data, ONSD and ODE between the two groups were compared, and the receiver operating characteristic (ROC) curve was generated. The area under the curve (AUC) and the diagnostic cut-off value of ONSD were analyzed. Spearman correlation analysis was used to analyze the correlation between ONSD, ODE, CVST involvement range scores and intracranial pressure. Results:①There were no significant differences in gender, age and body mass index between the normal ICP group and the increased ICP group (all P>0.05). ②The ONSD and ODE in the increased ICP group were higher than those in the normal ICP group, and the differences were statistically significant [(4.83±0.33)mm vs (4.21±0.21)mm, (0.67±0.44)mm vs (0.24±0.29)mm, all P<0.001]. Spearman correlation analysis showed that ONSD and ODE were positively correlated with intracranial pressure ( rs=0.74, 0.51, all P<0.001). ③The extent of CVST involvement in the intracranial hypertension group was higher than that in the normal intracranial pressure group, and the difference was statistically significant [5.0(3.0, 7.5) vs 2.5(2.0, 5.0), P=0.015]. Spearman correlation analysis showed that CVST involvement score was positively correlated with intracranial pressure ( rs=0.43, P<0.001). ④In the diagnosis of intracranial hypertension in patients with cerebral venous sinus thrombosis, the AUC of ONSD was 0.935, the best diagnostic threshold of ONSD was 4.5 mm, the sensitivity was 0.81, and the specificity was 0.93. Conclusions:ONSD and ODE measured by ultrasound are reliable imaging methods to identify intracranial hypertension in patients with CVST.
7.Reform and practice of precise teaching for experiment in medical laboratory technology
Shaozhuang LIU ; Chunyan GAO ; Weijun DONG ; Xinying ZHANG ; Tingting LI ; Xijuan ZHAO ; Songhe LIANG ; Yushan QI ; Minghui XU
Chinese Journal of Medical Education Research 2021;20(6):652-654
In order to train professionals in medical laboratory technology who are directly engaged in medical examination and medical laboratory work and who have strong practical ability and can adapt to the development of precision medicine, the reform of precise teaching for experiment is implemented. Through the precise stratification of experimental projects and knowledge points, the design of precise teaching activity and the construction of precise evaluation system for experiments, guided by precision medicine during the experimental process, the standardization and precision training of basic skills for students are strengthened in clinical laboratory test. The students can more well adapt to the needs of society for technical and innovative talent in the new period. The precise teaching for experiment will become one of the main characteristics of medical laboratory technology education in our school.
8.Epidemiological analysis of complications in preterm infants
Xijuan LIU ; Lijun LU ; Hong QIU ; Naisheng WU
Chinese Journal of Primary Medicine and Pharmacy 2019;26(3):315-318
Objective To explore the epidemiological analysis of complications in premature infants.Methods From January 2017 to March 2018,1800 premature babies in Ningbo Women and Children Hospital were selected in the study.The clinical data of pregnant women,premature infants and premature complications,and so on were investigated,and summarized epidemiology of premature infant complications.Results The probability of premature birth was 9.09%.The differences between different gestational age(x2 =2 481.34) and different body weight (x2 =3 088.21) were statistically significant (all P < 0.05).Premature rupture of membranes occurred as the main one of the common factors lead to premature birth,the fetal distress was also more common factors,so in different gestational age,the difference was not statistically significant (P > 0.05).However,compared with other factors,the difference of premature infants at different gestational weeks was statistically significant (P < 0.05).Conclusion Epidemiological study of preterm infants,can promote their perinatal management level and quality,and then pointed to strengthen perinatal health education and health care,for the effective prevention and treatment of common diseases of perinatal,key management and monitoring work earnestly strengthen the high-risk pregnancy,attaches great importance to the establishment of collaborative relationship between made in pediatric claims intrauterine transhipment,making pregnant women can be produced in the hospital for treatment for premature babies,and reduce the mortality and morbidity rates of premature and low birth weight,can reduce the risk of intellectual disability,eventually making the birth population overall quality improved.
9. Application of N-methyl-aspartate receptor antibody level, brainstem auditory evoked potential and magnetic resonance imaging in the differential diagnosis of encephalitis in children
Xijuan LIU ; Hong QIU ; Lijun LU ; Naisheng WU
Chinese Journal of Experimental and Clinical Virology 2019;33(2):202-206
Objective:
To explore the clinical value of serum N-methyl-aspartate receptor (NMDAR) antibody level, brainstem auditory evoked potential (BAEP) and magnetic resonance imaging (MRI) in the differential diagnosis of viral encephalitis and anti-NMDAR encephalitis.
Methods:
The clinical data of 68 children patients with encephalitis were retrospectively analyzed. The patients diagnosed with viral encephalitis were included in V group (
10.Application of quality control circle to reducing non-timely maintenance rate of medical equipment
Xijuan MO ; Can LIU ; Jianwu ZHOU ; Baoqiao WU ; Lu LI ; Ningjuan HUANG ; Jin ZHANG
Chinese Medical Equipment Journal 2017;38(2):147-149
Objective To apply quality control circle (QCC) to reducing non-timely maintenance rate of medical equipment.Methods QCC was established,and some measures were taken to observe its effect in decreasing non-timely maintenance rate of medical equipment.Results The non-timely maintenance rate fell from 12.1% to 4.5%,and 0.3 million Yuan was saved for the manpower cost.Conclusion QCC decreases the non-timely maintenance rate of medical equipment,increases the efficiency of the maintainer,shortens the downtime of the fault medical equipment,enhances hospital economic benefit and patient satisfaction and provides references for other hospitals.

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