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.Application of semi-flipped classroom combined with the knowledge point auction learning method in teaching of oral mucosa diseases
Yun HONG ; Yunyang LU ; Zhi WANG ; Juan XIA ; Xiaoan TAO ; Bin CHENG ; Xijuan CHEN
Chinese Journal of Medical Education Research 2024;23(1):90-93
Objective:To explore the application of the semi-flipped classroom combined with knowledge point auction learning method in the theoretical teaching among stomatological students and its effectiveness.Methods:Undergraduates from four classes at Guanghua School of Stomatology, Sun Yat-Sen University were taken as research subjects. Students from two classes ( n=198) were taught using the semi-flipped classroom combined with the knowledge point auction learning method, while students from the other two classes ( n=172) were taught with the regular classroom teaching method as controls. Classroom quizzes were used to compare the two classes' mastery of important and difficult points, and a questionnaire was used to investigate students' feedback on the class outcomes. SPSS 22.0 was used for the independent samples t-test. Results:The mean test score of the experimental class was higher than that of the control class (88.51±11.02 vs. 80.40±8.53). The results of the questionnaire showed that students' interest in the course, comprehension and absorption of knowledge points, degree of satisfaction with the class, and mastery of the contents in sections in the experimental class were significantly higher than those in the control class (7.28±1.51 vs. 9.10±0.73, 6.92±1.44 vs. 8.69±1.62, 6.09±1.87 vs. 7.61±1.46, 6.40±1.04 vs. 7.70±0.86 ).Conclusions:The semi-flipped classroom combined with the knowledge point auction learning method is innovative and achieves good teaching outcomes. It holds promise for wider use in the theoretical teaching of various clinical subjects. To explore the application of the semi-flipped classroom combined with knowledge point auction learning method in the theoretical teaching among stomatological students and its effectiveness.
3.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.
4.Research progress on the role of N6-methyladenosine modification in atherosclerosis and drug intervention
Xiaolu ZHANG ; Miaoying GENG ; Yun WANG ; Shengyong MENG ; Yijing WANG ; Xijuan JIANG
Chinese Journal of Arteriosclerosis 2024;32(4):277-284
N6-methyladenosine(m6A)modification is one of the most abundant epitranscriptomic modifications in eukaryotic mRNA,with dynamic and reversible properties.This modification process is coordinated by methyltransferases,demethylases,and related m6A binding proteins,which in turn affect mRNA metabolism and function.Increasing evi-dence has indicated that the m6A RNA modification plays an important role in the occurrence and development of athero-sclerosis(As)and other related diseases.This paper provide a comprehensive review of the relationship between m6A RNA modification and As.The entire manuscript summarizes the m6A RNA modification mechanism and its roles in As-related cells including endothelial cells,macrophages,and smooth muscle cells,and discusses the association of m6A RNA modification with risk factors of As such as high-fat diet,ischemia/hypoxia,oscillatory stress,and hypertension.Finally,this review summarizes researches on drug intervention targeting m6A RNA methylation to mitigate As.These studies pro-vide important references for exploring new targets for early diagnosis and treatment of As.
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.Evaluation of the effect of instant blood glucose monitoring system in perioperative blood glucose management in patients with hip fracture complicated with diabetes mellitus
Minjie ZHANG ; Aixiang WENG ; Chen YANG ; Xijuan WEI ; Yanmei WANG
Chinese Journal of Practical Nursing 2021;37(13):967-972
Objective:To explore the effect of instant blood glucose monitoring system (FGM) in perioperative blood glucose management in patients with hip fracture complicated with diabetes mellitus, and to provide guidance for perioperative blood glucose management.Methods:A total of 100 patients with hip fracture complicated with diabetes mellitus treated in the Department of Orthopaedics, Gongli Hospital, Pudong New Area, Shanghai from July 2018 to July 2020 were selected as subjects.The patients were divided into experimental group and control group by random digits table method with 50 cases in each group. The patients in both groups adopted the mode of multidisciplinary cooperation.The experimental group was used to monitor blood glucose based on FGM, and traditional blood glucose monitoring was used in the control group. The waiting time before operation, the pain caused by blood glucose acupuncture, the satisfaction of patients and medical staff, the blood glucose level at different time points and the incidence of adverse reactions were compared between the two groups.Results:The waiting time before operation, the proportion of patients with moderate and severe pain after acupuncture and the incidence of hyperglycemia in the experimental group were (2.58 ± 1.30) d, 2% (1/50) and 30% (15/50), respectively, the control group were (3.67 ± 1.59) d, 22% (11/50) and 50% (25/50), respectively. The differences were statistically significant( t value was -2.087, χ2 values were 9.470, 4.170, P<0.05). The satisfaction of patients and medical staff in the experimental group were (46.43 ± 1.87), (46.58 ± 2.10) points, respectively, the control group were (40.67 ± 3.24), (43.84 ± 2.92) points, respectively.The differences were statistically significant( t values were 8.441, 8.087, P<0.05). There was no significant difference in fasting blood glucose, 2-hour postprandial blood glucose and pre-bedtime blood glucose between the two groups( P>0.05). Conclusions:The application of FGM can realize the continuous blood glucose monitoring and management of patients,making the blood glucose reach the standard more quickly and smoothly, meanwhile it may effectively shorten the waiting time before operation and reduce the acupuncture pain of blood glucose monitoring and recognize patients with concealed abnormal blood glucose. The application can improve the satisfaction of patients and medical staff, and promote the rapid recovery of patients as well.
7.Strategies for monitoring 24-hour intraocular pressure curve: 41 cases of prospective clinical study.
Jiayin QIN ; Xijuan WANG ; Mingwu LI ; Zeqin REN
Journal of Southern Medical University 2021;41(1):107-110
OBJECTIVE:
To investigate accuracy of the currently used strategies for intraocular pressure measurements for reflecting actual 24-hour intraocular pressure fluctuations.
METHODS:
From September, 2018 to January, 2019, the patients with a suspected diagnosis of primary open angle glaucoma at our hospital were prospectively enrolled to receive 24-hour intraocular pressure monitoring using a Goldmann tonometer. With the intraocular pressure measurements at 0:00, 2:00, 5:00, 7:00, 8:00, 10:00, 11:00, 14:00, 16:00, 18:00, 20:00, and 22:00 as the gold standard (strategy 1), we compared the measurements taken at 5:00, 7:00, 10:00, 14:00, 18:00, and 22:00 (strategy 2) and at 8:00, 11:00, 14:00, and 16:00 (strategy 3) for their accuracy in reflecting 24-h intraocular pressure fluctuations.
RESULTS:
A total of 41 patients (82 eyes) were enrolled in this study. The peak intraocular pressures measured using the 3 strategies were 21.09±4.15 mmHg, 20.54±4.10 mmHg, and 19.91±4.38 mmHg, respectively, showing significant differences among them (
CONCLUSIONS
For suspected cases of glaucoma, intraocular pressure measurements at 4 and 6 time points of a day can not precisely reflect the actual range of intraocular pressure fluctuations, and may lead to a missed diagnosis of glaucoma.
Glaucoma/diagnosis*
;
Glaucoma, Open-Angle
;
Humans
;
Intraocular Pressure
;
Prospective Studies
;
Tonometry, Ocular
8.A qualitative study of the continuous nursing needs of patients with type 2 diabetes based on the App and hospital-community-family linkage
Weixi SUN ; Xinxin PAN ; Yanmei WANG ; Xijuan WEI ; Wenhui ZHANG
Chinese Journal of Practical Nursing 2021;37(31):2432-2437
Objective:To understand the continuing care needs of patients based on the App and "hospital-community-home" linkage.Methods:With descriptive qualitative research, a semi-structured in-depth interview was conducted in 15 patients with type 2 diabetes in Gongli Hospital, Pudong New Area, Shanghai City, and community hospital from January to February 2020. Thematic analysis and the software NVivo 10.0 were used for data analysis.Results:Five themes were extracted: desire a "hospital-led,community-implemented, family-supported" model of continuing care; desire an appropriate, convenient and personalized access to information and follow-up; expect continuous, comprehensive, professional health guidance; expect to receive continuing care service led by specialized nurses and managed by multidisciplinary team; expect diabetes App to be simple and practical, satisfying various needs such as post-hospitalization condition monitoring, assessment feedback, health education and health intervention,ensure information security and free use.Conclusions:Patients have a strong willingness to receive continuing care based on the App and "hospital-community-family" linkage. A mechanism of "hospital-community-family" linkage continuing care service with clear division of labor should be established, multidisciplinary cooperation should be strengthened, and team advantages should be utilized. Providing comprehensive, professional and evidence-based continuing care services for patients, while further optimizing software functions and focusing on information security construction and following evidence-based guidelines to standardize App content in order to adapt to more patient characteristics and needs.
9.A novel compound heterozygous mutation of GNPTAB gene underlying a case with mucolipidosis type II α/β.
Ke YANG ; Guiyu LOU ; Na QI ; Yuwei ZHANG ; Hongjie ZHU ; Li WANG ; Xijuan WANG ; Bing ZHANG
Chinese Journal of Medical Genetics 2019;36(6):606-609
OBJECTIVE:
To analyze the clinical features and genetic mutations in a patient with mucolipidosis type II α/β by using next generation sequencing.
METHODS:
Clinical data of the patient was collected. Genomic DNA of the patient and her parents was extracted by a standard method. The patient was subjected to targeted sequencing using an Ion Ampliseq panel, which included genes related to mucolipidosis and mucopolysaccharidosis. Suspected mutations were verified by Sanger sequencing.
RESULTS:
Compound heterozygous mutations, namely c.1284+1G>T and c.1090C>T (p.Arg364*), were detected in the patient, which were respectively inherited from her mother and father. No other disease-causing mutation was detected in the patient. GNPTAB c.1090C>T was known to be pathogenic, while GNPTAB c.1284+1G>T is a novel mutation. The same mutations were not detected among 50 healthy controls.
CONCLUSION
The compound heterozygous mutations c.1284+1G>T and c.1090C>T (p.Arg364*) of GNPTAB gene probably account for the mucolipidosis type II α/β in the patient. NGS has a great value for the molecular diagnosis and typing of mucolipidosis.
Female
;
High-Throughput Nucleotide Sequencing
;
Humans
;
Mucolipidoses
;
genetics
;
Mutation
;
Transferases (Other Substituted Phosphate Groups)
;
genetics

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