1.Concordance and pathogenicity of copy number variants detected by non-invasive prenatal screening in 38,611 pregnant women without fetal structural abnormalities.
Yunyun LIU ; Jing WANG ; Ling WANG ; Lin CHEN ; Dan XIE ; Li WANG ; Sha LIU ; Jianlong LIU ; Ting BAI ; Xiaosha JING ; Cechuan DENG ; Tianyu XIA ; Jing CHENG ; Lingling XING ; Xiang WEI ; Yuan LUO ; Quanfang ZHOU ; Ling LIU ; Qian ZHU ; Hongqian LIU
Chinese Medical Journal 2025;138(4):499-501
2.Analysis of clinical diagnosis,treatment and prognostic factors in 75 cases of urachal carcinoma
Yong ZHANG ; Lingang CUI ; Penghui YUAN ; Tianyu LYU ; Jiahao CUI ; Zhuo ZHAO ; Qingjun MENG
Journal of Modern Urology 2025;30(9):733-738
Objective To explore the diagnosis,treatment and prognostic factors of urachal carcinoma(UrC),aiming to provide reference for the standardized diagnosis and treatment of this disease.Methods A retrospective analysis was conducted on the clinical data of 75 UrC patients confirmed with postoperative pathology treated in our hospital during Mar.2010 and Mar.2023.All patients underwent surgical treatment,and 35 received postoperative chemotherapy.Univariate and multivariate Cox regression analyses were performed to identify independent prognostic factors.Kaplan-Meier curves were adopted to calculate the cumulative survival rates and overall survival(OS).Results Among the 75 patients,the male to female ratio was 2.8∶1 and the mean age was(58.4±2.2)years.Median follow-up was 60 months and median OS was 48 months.The 3-year survival rate was 67.3%and the 5-year survival rate was 38.8%.There were 19 cases(25.3%)of CK7 positive,60 cases(80.0%)of Sheldon stage Ⅲ and above,and 26 cases(34.7%)of postoperative recurrence.CK7 positive(P=0.001),Sheldon staging Ⅲ+Ⅳ(P=0.005)and postoperative recurrence(P=0.003)were independent prognostic factors.Conclusion Urachal carcinoma is a rare malignant tumor in males with occult onset.CK7 positive,Sheldon staging and postoperative recurrence were independent prognostic factors of this disease.
3.Analysis of clinical diagnosis,treatment and prognostic factors in 75 cases of urachal carcinoma
Yong ZHANG ; Lingang CUI ; Penghui YUAN ; Tianyu LYU ; Jiahao CUI ; Zhuo ZHAO ; Qingjun MENG
Journal of Modern Urology 2025;30(9):733-738
Objective To explore the diagnosis,treatment and prognostic factors of urachal carcinoma(UrC),aiming to provide reference for the standardized diagnosis and treatment of this disease.Methods A retrospective analysis was conducted on the clinical data of 75 UrC patients confirmed with postoperative pathology treated in our hospital during Mar.2010 and Mar.2023.All patients underwent surgical treatment,and 35 received postoperative chemotherapy.Univariate and multivariate Cox regression analyses were performed to identify independent prognostic factors.Kaplan-Meier curves were adopted to calculate the cumulative survival rates and overall survival(OS).Results Among the 75 patients,the male to female ratio was 2.8∶1 and the mean age was(58.4±2.2)years.Median follow-up was 60 months and median OS was 48 months.The 3-year survival rate was 67.3%and the 5-year survival rate was 38.8%.There were 19 cases(25.3%)of CK7 positive,60 cases(80.0%)of Sheldon stage Ⅲ and above,and 26 cases(34.7%)of postoperative recurrence.CK7 positive(P=0.001),Sheldon staging Ⅲ+Ⅳ(P=0.005)and postoperative recurrence(P=0.003)were independent prognostic factors.Conclusion Urachal carcinoma is a rare malignant tumor in males with occult onset.CK7 positive,Sheldon staging and postoperative recurrence were independent prognostic factors of this disease.
4.Association between prenatal exposure to PM 2.5 and fetal growth: a prospective cohort study
Lei HUANG ; Hong LYU ; Xin XU ; Tianyu SUN ; Yiyuan CHEN ; Yanjie ZHANG ; Bo YANG ; Qun LU ; Yangqian JIANG ; Tao JIANG ; Jiangbo DU ; Xiaoyan WANG ; Hongxia MA ; Zhibin HU ; Yuan LIN
Chinese Journal of Epidemiology 2024;45(6):794-801
Objective:To investigate the association of exposure to PM 2.5 and its constituents during pregnancy and fetal growth and to further identify critical windows of exposure for fetal growth. Methods:We included 4 089 mother-child pairs from the Jiangsu Birth Cohort Study between January 2016 and October 2019. Data of general characteristics, clinical information, daily average PM 2.5 exposure, and its constituents during pregnancy were collected. Fetal growth parameters, including head circumference (HC), abdominal circumference (AC), and femur length (FL), were measured by ultrasound after 20 weeks of gestation, and then estimated fetal weight (EFW) was calculated. Generalized linear mixed models were adopted to examine the associations of prenatal exposure to PM 2.5 and its constituents with fetal growth. Distributed lag nonlinear models were used to identify critical exposure windows for each outcome. Results:A 10 μg/m 3 increase in PM 2.5 exposure during pregnancy was associated with a decrease of 0.025 ( β=-0.025, 95% CI: -0.048- -0.001) in HC Z-score, 0.026 ( β=-0.026, 95% CI: -0.049- -0.003) in AC Z-score, and 0.028 ( β=-0.028, 95% CI:-0.052--0.004) in EFW Z-score, along with an increased risk of 8.5% ( RR=1.085, 95% CI: 1.010-1.165) and 13.5% ( RR=1.135, 95% CI: 1.016-1.268) for undergrowth of HC and EFW, respectively. Regarding PM 2.5 constituents, prenatal exposure to black carbon, organic matter, nitrate, sulfate (SO 42-) and ammonium consistently correlated with decreased HC Z-score. SO 42- exposure was also associated with decreased FL Z-scores. In addition, we found that gestational weeks 2-5 were critical windows for HC, weeks 4-13 and 19-40 for AC, weeks 4-13 and 23-37 for FL, and weeks 4-12 and 20-40 for EFW. Conclusions:Our findings demonstrated that exposure to PM 2.5 and its constituents during pregnancy could adversely affect fetal growth and the critical windows for different fetal growth parameters are not completely consistent.
5.Exploration and application of the evaluation criterion for the clinical rational use of Dahuang Zhechong Capsule
Jin LIU ; Xujie ZANG ; Peng XU ; Jian QI ; Tianyu ZHANG ; Tao FU ; Wei YUAN ; Pengcheng YUAN ; Haile FENG
Journal of Beijing University of Traditional Chinese Medicine 2024;47(10):1449-1456
Objective To discuss the evaluation basis of the clinical rational use of Dahuang Zhechong Capsule and to establish its rationality evaluation criterion to promote the sensible use of Dahuang Zhechong Capsule.Methods The rationality evaluation criterion for Dahuang Zhechong Capsule was formulated by referring to the package insert,treatment guidelines,and other literature.According to the criterion,270 outpatient prescriptions using Dahuang Zhechong Capsule in Xiyuan Hospital,China Academy of Chinese Medical Sciences were reviewed from January to June 2020.The indication,usage and dosage,drug combination,and repeated administration were analyzed.The pharmaceutical intervention was performed to address the problems found in the prescription reviews,and 328 outpatient prescriptions using Dahuang Zhechong Capsule in October 2020 were reevaluated.Results The irrational use rate of Dahuang Zhechong Capsule from January to June 2020 was 42.22%(114 cases),including 108(40%)cases of inappropriate indications,five(1.85%)cases of improper usage and dosage,and one(0.37%)case of inappropriate administration route.However,the pharmaceutical intervention in October 2020 remarkably reduced the irrational use rate of Dahuang Zhechong Capsule(4.27%,14 cases),all of which were inappropriate indications.Conclusion Dahuang Zhechong Capsule is being used irrationally;therefore,establishing an evaluation criterion is required.The specific situation of irrational drug use can be identified by prescription review according to its rationality evaluation criterion to manage its clinical use better and promote its rational use.
6.Evaluation of right ventricular function in patients with hypertrophic cardiomyopathy and heart failure with preserved ejection fraction by the ratio of tricuspid annular plane systolic excursion to pulmonary artery systolic pressure
Tianyu HE ; Lina WU ; Wenqiang SHI ; Huican DUAN ; Haiyan LIU ; Haiyan GUO ; Weiqiang GAO ; Gang LI ; Yuan LIU ; Ruifang ZHANG
Chinese Journal of Ultrasonography 2024;33(2):126-133
Objective:To evaluate the value of the ratio of tricuspid annular plane systolic excursion to pulmonary artery systolic pressure (TAPSE/PASP) in evaluating right ventricular function of patients with hypertrophic cardiomyopathy (HCM) and heart failure with preserved ejection fraction (HFpEF).Methods:A total of 74 patients with HCM and HFpEF and 22 healthy individuals who visited the First Affiliated Hospital of Zhengzhou University from January 2021 to January 2023 were included in this study. The HCM patients with HFpEF were divided into three groups based on the tertiles of the TAPSE/PASP (low group: <0.280 0 mm/mmHg; middle group: 0.280 0-0.476 2 mm/mmHg; high group: >0.476 2 mm/mmHg). Conventional echocardiographic parameters were collected, and two-dimensional speckle tracking technology was used to obtain right ventricular strain parameters. The differences in parameters among the groups were compared, and the correlations between TAPSE/PASP and clinical parameters and right ventricular function parameters were analyzed.Results:The results of difference analysis showed that there were significant differences in 6-minute walking test, New York Heart Association grade (NYHA grade), incidence of atrial fibrillation, left atrial area (LAA), left ventricular global longitudinal strain (LVGLS), TAPSE, PASP, right ventricular fractional area change (RVFAC), right ventricular global longitudinal strain (RVGLS), right ventricular free wall strain (RVFWST) and cardiac magnetic resonance right ventricular ejection fraction (CMR-RVEF) among the three groups. The results of correlation analysis and multiple linear regression analysis showed that the TAPSE/PASP was positively correlated with 6-minute walking distance, RVFAC, tricuspid annulus peak systolic velocity (RV s′), and CMR-RVEF ( r=0.449, 0.284, 0.358, 0.577; all P<0.05). It was negatively correlated with N-terminal pro-brain natriuretic peptide (NT-proBNP), NYHA grade, LAA, mitral early diastolic peak velocity / mitral annulus early diastolic peak velocity (LV E/e′), LVGLS, RVGLS, RVFWST and tricuspid early diastolic peak velocity / tricuspid annulus early diastolic peak velocity (RV E/e′) (r/ rs=-0.336, -0.349, -0.468, -0.452, -0.444, -0.339, -0.405, -0.320; all P<0.05). The LAA and CMR-RVEF correlated independently with TAPSE/PASP(all P<0.05). Conclusions:The TAPSE/PASP can provide an early, simple, rapid, and convenient evaluation of right ventricular function in patients with HCM and HFpEF, so as to guide clinical treatment and monitoring disease progression.
7.Naringenin promotes atherosclerotic palque stability by regulating the expression of TIMP-3 in smooth muscle cells
Hui HE ; Doudou DONG ; Meng DING ; Yuan ZHU ; Tianyu JIANG ; Xiaoting XU ; Hailong OU
Chinese Journal of Arteriosclerosis 2024;32(7):567-572,582
Aim To investigate the effects of naringenin on atherosclerotic plaque extracellular matrix remodeling and plaque stability.Methods Murine vascular smooth muscle cells were isolated and treated with various doges of naringenin.ApoE-/-mice were fed with high-fat diet and received naringenin by lavage for 16 weeks.Intraplaque nec-rotic core,contents of collagen and fibrous cap thickness were measured by Sirius red-Haematoxylin staining.Elastin was detected by Van Gieson staining.Matrix metalloproteinase(MMP)activity was determined by gelatin zymography and fluorescence-gelatin staining.Results Naringenin(50 μmol/L)increased signal tansducer and activator of transciption 6(STAT6)phosphorylation and promoted tissue inhibitor of metalloproteinase-3(TIMP-3)expression by 3.1-fold(P<0.001).After naringenin(80 mg/kg)treatment,compared with the control group,the area of plaque necrotic core in aor-tic root decreased by 53%(P<0.01),the thickness of fibrous caps increased by nearly 50%(P<0.05),and the degree of elastic fiber degradation decreased.At the same time,naringenin promoted the expression of TIMP-3 in plaques,and corre-spondingly reduced the activity of MMP in plaques.Lentivirus mediated inhibition of TIMP-3 expression in vivo could reduce the protective effect of naringenin on plaque stability.Conclusion Naringin can increase the expression of TIMP-3 in smooth muscle cells,improve the composition of extracellular matrix,and promote the stability of atherosclerotic plaque.
8.Maternal high-fat diet during pregnancy promotes aortic endothelial to mesenchymal transition in offspring
Hui HE ; Yuan ZHU ; Doudou DONG ; Meng DING ; Tianyu JIANG ; Xiaochuan MO ; Zhuting WANG ; Hailong OU
Chinese Journal of Arteriosclerosis 2024;32(11):939-946
Aim To study the effect of maternal high-fat diet during pregnancy on endothelial to mesenchymal transition of aortic vessels in adult offspring.Methods The pregnant mice were randomly divided into normal diet group and high-fat diet group,and the offspring mice were fed normally for 16 weeks after the mother gave birth.Western blot and RT-qPCR were used to detect the expression and transcription of related proteins,and immunofluorescence and im-munohistochemical staining were used for pathological analysis.Results Compared with the offspring of maternal nor-mal diet during pregnancy,the expressions of vascular inflammatory factors,macrophage infiltration,monocyte-endothelium adhesion were significantly increased in the offspring of maternal high-fat diet(OHF)during pregnancy(P<0.05).Vas-cular endothelial nitric oxide synthase(eNOS)activity,nitric oxide(NO)level were dramatically reduced(P<0.05).Immunofluorescence results showed reduced endothelial cell marker CD31 and increased mesenchymal marker α-smooth muscle actin(α-SMA)in OHF.Western blot analysis further confirmed the results,which showed that maternal high fat diet reduced vascular endothelial-cadherin(VE-cadherin)and CD31 and increased α-SMA and Vimentin in the offspring(P<0.05).The maternal high fat diet increased the extracellular matrix protein disposition and transforming growth factor beta(TGF-β)/Smad signaling in endothelium(P<0.05).Moreover,the maternal high fat diet reduced Kruppel-like factor 2(KLF2)expression by 76%in mRNA level and 59%in protein level(P<0.05).Conclusion Maternal high-fat diet during pregnancy lead to a transition of endothelial to mesenchyme in the offspring aorta.The results provide a clue for prevention of vascular disease in early stage.
9.Research progress on congenital heart disease-related TBX5 mutations
Wenbo LI ; Yuan ZHANG ; Qianqian ZHU ; Tianyu LIU ; Maohua ZHONG ; Xiu XU ; Zhen'ao ZHAO
Chinese Journal of Reproduction and Contraception 2024;44(8):879-885
Congenital heart diseases (CHDs) seriously affect human health, and genetic mutation is closely related to the occurrence of CHDs. In the process of assisted reproduction, the use of methods such as polar body biopsy, blastomere biopsy and blastocyst biopsy, combined with single-cell DNA amplification and high-throughput sequencing technology, can accurately detect pathogenic mutations associated with single-gene genetic diseases in pre-implantation embryos. T-box transcription factor 5 (TBX5) is an important transcription factor for heart and upper limb development. It is reported 227 TBX5 mutations are related to CHDs. Preimplantation genetic testing for monogenic disease (PGT-M) to detect CHD-related TBX5 mutations in embryos is of great significance for preventing the occurrence of CHDs. In this review, we systematically summarized the TBX5 mutation information, and analyzed the deleterious effects of TBX5 missense mutations based on familial genetic data, animal models, induced pluripotent stem cell disease models and prediction software to provide references for the detection of CHD-related TBX5 mutations using PGT-M.
10.Research progress on congenital heart disease-related TBX5 mutations
Wenbo LI ; Yuan ZHANG ; Qianqian ZHU ; Tianyu LIU ; Maohua ZHONG ; Xiu XU ; Zhen'ao ZHAO
Chinese Journal of Reproduction and Contraception 2024;44(8):879-885
Congenital heart diseases (CHDs) seriously affect human health, and genetic mutation is closely related to the occurrence of CHDs. In the process of assisted reproduction, the use of methods such as polar body biopsy, blastomere biopsy and blastocyst biopsy, combined with single-cell DNA amplification and high-throughput sequencing technology, can accurately detect pathogenic mutations associated with single-gene genetic diseases in pre-implantation embryos. T-box transcription factor 5 (TBX5) is an important transcription factor for heart and upper limb development. It is reported 227 TBX5 mutations are related to CHDs. Preimplantation genetic testing for monogenic disease (PGT-M) to detect CHD-related TBX5 mutations in embryos is of great significance for preventing the occurrence of CHDs. In this review, we systematically summarized the TBX5 mutation information, and analyzed the deleterious effects of TBX5 missense mutations based on familial genetic data, animal models, induced pluripotent stem cell disease models and prediction software to provide references for the detection of CHD-related TBX5 mutations using PGT-M.

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