1.Association Between MTHFR C677T Gene Polymorphism and Hypertension, Hyperhomocysteinemia and Hyperlipidemia in Tibet Region
Pengchang LI ; Danni MU ; Zhijuan LIU ; Xiaoxing LIU ; Puchi ZEJI ; Liping TIAN ; Honglei LI ; Li'an HOU ; Dandan LI ; Jie WU ; Ling QIU
Medical Journal of Peking Union Medical College Hospital 2026;17(1):280-285
To explore the correlation between MTHFR C677T gene polymorphism and hypertension, hyperhomocysteinemia(Hcy), and hyperlipidemia in the Tibetan population of Tibet. Using a cluster sampling method, participants from high-altitude regions including Ngari Prefecture, Lhasa City, and Nyingchi City in Tibet were enrolled. Differences in MTHFR C677T genotype distribution among individuals with hypertension, HHcy, and hyperlipidemia were analyzed, and multivariate logistic regression was performed to assess the association between these conditions and the TT genotype. A total of 574 eligible subjects were included, with a mean age of 40.64±12.67 years. Males accounted for 46.7%(268/574) and females 53.3%(306/574). Regional distribution was 34.8%(200/574) from Nyingchi City, 33.1%(190/574) from Lhasa City, and 32.1%(184/574) from Ngari Prefecture. Mean systolic and diastolic blood pressures were 117.89±18.98 mm Hg and 79.74±14.88 mm Hg, respectively. The frequency of the TT genotype was significantly higher in the hypertension group than in the non-hypertension group(12.32% The MTHFR C677T TT genotype is significantly associated with hypertension and hyperhomocysteinemia in the Tibetan population, suggesting that this polymorphism may be a genetic risk factor for these diseases in high-altitude regions.
2.A randomized controlled study of cold-endoscopic mucosal resection versus hot-endoscopic mucosal resection for 10-20 mm sessile colorectal polyps
Wei LIU ; Fang LIU ; Qiucheng LI ; Weiwei HE ; Huizhen XIONG ; Shanshan WEI ; Yuqing QIAO ; Ting ZHOU ; Honglei CHEN
Chinese Journal of Digestive Endoscopy 2025;42(4):273-279
Objective:To compare the efficacy and safety of cold-endoscopic mucosal resection (C-EMR) and hot-endoscopic mucosal resection (H-EMR) for the treatment of colorectal polyps sized 10-20mm.Methods:Patients who underwent colonoscopy at the Gastrointestinal Endoscopy Center of the Eighth Affiliated Hospital, Sun Yat-sen University from January 2022 to January 2023 were selected as the research subjects. Patients meeting the inclusion criteria with at least one 10-20 mm, Paris type Ⅰs, type Ⅱa polyp were selected. They were divided into C-EMR group (no high-frequency current treatment) and H-EMR group (high-frequency electrical polyp removal) based on the random number table method. The main outcome measures were the complete resection rate of polyps, the incidence of postoperative complications (bleeding, perforation and infection), and the recurrence rate of polyps in the two groups. Secondary outcomes were the procedure time and cost-effectiveness.Results:A total of 209 eligible polyps were found in 209 patients, 105 in the C-EMR group (105 patients) and 104 in the H-EMR group (104 patients). There was no significant difference in the complete removal rate of polyps [91.4% (96/105) VS 95.2% (99/104), χ2=1.184, P=0.276], the recurrence rate of polyps [2.9% (3/105) VS 1.9% (2/104), χ2=0.195, P=0.683] or the incidence of complications [5.7% (6/105) VS 1.9% (2/104), χ2=2.040, P=0.280] between the C-EMR group and the H-EMR group. Compared with H-EMR group, the operation time of C-EMR group was shorter (5.26±2.41 min VS 9.34±5.63 min, t=-8.478, P<0.001), and the number of titanium clips used was fewer (2.55±0.94 VS 3.94±1.14, t=-9.623, P<0.001), and the differences between the two groups were statistically significant. The cost of polypectomy was lower in the C-EMR group than that in the H-EMR group (2 720±452 yuan VS 3 031±293 yuan), but the difference was not stastistically significant( t=-5.896, P=0.651). Conclusion:C-EMR demonstrates non-inferior efficacy and safety in treating 10-20 mm colorectal polyps compared with H-EMR. Widespread adoption of C-EMR may lead to reduced healthcare costs and expenditures.
3.Efficacy of non-invasive prenatal testing of fetal free DNA in maternal peripheral blood in fetuses with increased nuchal translucency
Mengyao NI ; Xiangyu ZHU ; Wei LIU ; Leilei GU ; Peixuan CAO ; Ying YANG ; Xing WU ; Chunxiang ZHOU ; Honglei DUAN ; Jie LI
Chinese Journal of Perinatal Medicine 2025;28(2):113-118
Objective:To explore the efficacy of non-invasive prenatal testing (NIPT) of fetal free DNA in maternal peripheral blood in fetuses with increased nuchal translucency (NT).Methods:A retrospective analysis was conducted on 1 184 singleton pregnant women that underwent chromosomal microarray analysis (CMA) at Nanjing Drum Tower Hospital, Nanjing University Medical School from June 2014 to December 2022 due to fetal increased NT (≥3.0 mm). These subjects were categorized based on whether the increased NT was accompanied by other high-risk factors into isolated increased NT without advanced maternal age (further subdivided into 3.0 mm≤NT<3.5 mm, 3.5 mm≤NT<4.0 mm, and NT≥4.0 mm subgroups), isolated increased NT with advanced maternal age, increased NT with nasal bone abnormalities, increased NT with other soft markers, and increased NT with structural abnormalities groups. Assuming the sensitivity and specificity of NIPT and expanded NIPT at this center were both 100%, genomic abnormalities outside the detection range of NIPT or expanded NIPT were termed as residual risk of NIPT or expanded NIPT. Chi-square test and Bonferroni correction were used to compare the residual risks of NIPT and expanded NIPT among the three subgroups of isolated increased NT without advanced maternal age group. Results:(1) In the group of isolated increased NT without advanced maternal age: For the 3.0 mm≤NT<3.5 mm subgroup (329 cases), 19 abnormalities were detected by CMA [12 cases of chromosome aneuploidy, seven cases of pathogenic copy number variation (pCNV)], with residual risks of NIPT and expanded NIPT both at 2.1% (7/329). For the 3.5 mm≤NT<4.0 mm subgroup (173 cases), 29 abnormalities were detected by CMA (17 cases of chromosome aneuploidy, nine cases of pCNV, three cases of chromosome unbalanced translocation), with residual risks of NIPT at 8.1% (14/173) and expanded NIPT at 7.5% (13/173). For the NT≥4.0 mm subgroup (270 cases), CMA detected abnormalities in 70 cases (50 cases of chromosome aneuploidy, 16 cases of pCNV, three cases of unbalanced translocations, and one case of sex chromosome abnormality combined with pCNV). The residual risk of NIPT was 12.2% (33/270), and the residual risk of expanded NIPT was 7.0% (19/270). The residual risks of NIPT and expanded NIPT in the 3.0 mm≤NT<3.5 mm subgroup were lower than those in the 3.5 mm≤NT<4.0 mm and NT≥4.0 mm subgroups (Bonferroni correction, all P<0.017). (2) In the group of 92 cases with isolated increased NT and advanced maternal age, CMA detected abnormalities in 36 cases (29 cases of chromosome aneuploidy, five cases of pCNV, one case of trisomy 21 combined with sex chromosome abnormality, and one case of trisomy 18 combined with sex chromosome abnormality). The residual risk of NIPT was 7.6% (7/92), and that of expanded NIPT was 5.4% (5/92). (3) In the group of 49 cases with increased NT combined with nasal bone abnormalities, CMA detected abnormalities in 24 cases (23 cases of chromosome aneuploidy and one case of pCNV). The residual risks of NIPT and expanded NIPT were both 2.0% (1/49). (4) In the group of 26 cases with increased NT combined with other soft markers, CMA detected abnormalities in nine cases (six cases of chromosome aneuploidy, one case of pCNV, and two cases of chromosome unbalanced translocations). The residual risks of NIPT and expanded NIPT were both 11.5% (3/26). (5) In the group of 245 cases with increased NT combined with structural abnormalities, CMA detected abnormalities in 121 cases (107 cases of chromosome aneuploidy, seven cases of pCNV, four cases of chromosome unbalanced translocations, one case of trisomy 21 combined with trisomy 20, and two cases of trisomy 18 combined with sex chromosome abnormalities). The residual risk of NIPT was 16.7% (41/245), and that of expanded NIPT was 4.1% (10/245). Conclusions:For isolated NT≥3.5 mm or NT≥3.0 mm combined with other high-risk factors, chorionic villus sampling in early pregnancy can be recommended, advancing the timing of prenatal diagnosis from the second trimester to the first trimester. For fetuses with isolated 3.0 mm≤NT<3.5 mm, the 2.1% residual risk of chromosomal abnormalities should be fully informed during counseling, even if the risk of NIPT is low.
4.Analysis of infection status and genetic evolution of B2L and F1L genes in epidemic orf virus isolates from primary goat and sheep-producing areas in Anhui Province from 2021 to 2023
Liujun ZHANG ; Jiale CHEN ; Xing FENG ; Weizhen CHEN ; Yafei DENG ; Bo WANG ; Guolin ZUO ; Shaojun HE ; Honglei XIN ; Deyi LIU
Chinese Journal of Zoonoses 2025;41(7):697-703
This study was aimed at investigating the infection status of orf virus(ORFV)and the genetic evolution characteristics of epidemic ORFV isolates from Anhui province.A total of 303 clinical samples collected from major meat sheep breeding cities in An-hui during 2021-2023 were subjected to ORFV detection with fluorescence quantitative PCR(qPCR).The full-length B2L and F1L genes of ORFV in the positive samples were amplified through conventional PCR and sequenced.Genetic evolution analysis of the B2L and F1L genes was conducted after sequencing.The qPCR results indicated a total ORFV positivity rate in the clinical samples of 48.8%(148/303).Multiple sequence comparisons indicated that the B2L genes of 56 sample isolates shared 96.7%-100.0%DNA and 97.4%-100.0%amino acid sequence identity.Moreover,the F2L genes of 56 sample isolates shared 95.1%-100.0%DNA and 95.0%-100.0%amino acid sequence identity.The genetic evolution tree constructed with the B2L gene DNA sequences indicated sample iso-lates and 21 reference strains located in subgroup 1,and 26 sheep-derived sample isolates and 17 reference strains located in sub-group 2.Among them,the goat-derived sample isolate FY-TYA was located in the same sub-branch as the human-derived reference strain Gansu,whereas the goat-derived sample isolate FY-XQC was located in the same sub-branch as the reference strains China Vaccine and OV-HLJ-04.The genetic evolution tree constructed with the F1L gene DNA sequences showed,the goat sample isolates FY-XQA and FY-XQC were located in the same sub-branch as the sheep-derived reference strain Xinjiang.ORFV infection was rela-tively widespread in the major meat sheep breeding areas of Anhui province,and the DNA and amino acid sequences of the B2L and F1L genes of current circulating ORFV isolates showed different degrees of genetic variation,among which F1L gene had a high de-gree of variation.Furthermore,some goat-derived sample isolates were closely related to human,vaccine,and sheep-derived refer-ence strains.These results may serve as a reference for the prevention and control of ORFV infection in Anhui province.
5.A randomized controlled study of cold-endoscopic mucosal resection versus hot-endoscopic mucosal resection for 10-20 mm sessile colorectal polyps
Wei LIU ; Fang LIU ; Qiucheng LI ; Weiwei HE ; Huizhen XIONG ; Shanshan WEI ; Yuqing QIAO ; Ting ZHOU ; Honglei CHEN
Chinese Journal of Digestive Endoscopy 2025;42(4):273-279
Objective:To compare the efficacy and safety of cold-endoscopic mucosal resection (C-EMR) and hot-endoscopic mucosal resection (H-EMR) for the treatment of colorectal polyps sized 10-20mm.Methods:Patients who underwent colonoscopy at the Gastrointestinal Endoscopy Center of the Eighth Affiliated Hospital, Sun Yat-sen University from January 2022 to January 2023 were selected as the research subjects. Patients meeting the inclusion criteria with at least one 10-20 mm, Paris type Ⅰs, type Ⅱa polyp were selected. They were divided into C-EMR group (no high-frequency current treatment) and H-EMR group (high-frequency electrical polyp removal) based on the random number table method. The main outcome measures were the complete resection rate of polyps, the incidence of postoperative complications (bleeding, perforation and infection), and the recurrence rate of polyps in the two groups. Secondary outcomes were the procedure time and cost-effectiveness.Results:A total of 209 eligible polyps were found in 209 patients, 105 in the C-EMR group (105 patients) and 104 in the H-EMR group (104 patients). There was no significant difference in the complete removal rate of polyps [91.4% (96/105) VS 95.2% (99/104), χ2=1.184, P=0.276], the recurrence rate of polyps [2.9% (3/105) VS 1.9% (2/104), χ2=0.195, P=0.683] or the incidence of complications [5.7% (6/105) VS 1.9% (2/104), χ2=2.040, P=0.280] between the C-EMR group and the H-EMR group. Compared with H-EMR group, the operation time of C-EMR group was shorter (5.26±2.41 min VS 9.34±5.63 min, t=-8.478, P<0.001), and the number of titanium clips used was fewer (2.55±0.94 VS 3.94±1.14, t=-9.623, P<0.001), and the differences between the two groups were statistically significant. The cost of polypectomy was lower in the C-EMR group than that in the H-EMR group (2 720±452 yuan VS 3 031±293 yuan), but the difference was not stastistically significant( t=-5.896, P=0.651). Conclusion:C-EMR demonstrates non-inferior efficacy and safety in treating 10-20 mm colorectal polyps compared with H-EMR. Widespread adoption of C-EMR may lead to reduced healthcare costs and expenditures.
6.A case-control study on the attention characteristics of patients with stable schizophrenia
Honglei YANG ; Kang XIE ; Qunshan WANG ; Zhenyue LIU ; Wenjia LIU ; Xinyi GE ; Xianyun LI
Chinese Journal of Nervous and Mental Diseases 2025;51(1):32-37
Objective To investigate the attention characteristics of patients with stable schizophrenia.Methods Fifty-five stable schizophrenic patients and 55 healthy subjects were included in the study.The attention network test paradigm(ANT paradigm)was used to measure the attention of participants.The observed indexes included reaction time under four cues and three stimulus types and converted reaction time(alerting network,orienting network,and executive control network).Results Under different cue prompts and stimulus conditions,the reaction time of patients with stable-phase schizophrenia was higher than that of the control group(P<0.001).The alerting network[25.43(11.71,42.53)ms vs.39.32(27.46,51.98)ms,P=0.020]and executive control network[96.17(36.32,160.13)ms vs.44.43(18.52,89.73)ms,P<0.001]in the patient group were significantly lower than those in the control group,while there was no significant difference in the orienting network compared to the control group(P=0.136).Conclusion Patients with stable schizophrenia show significant impairment in the efficiency of the alerting and executive control networks,while the orienting network is not significantly impaired.
7.Analysis of infection status and genetic evolution of B2L and F1L genes in epidemic orf virus isolates from primary goat and sheep-producing areas in Anhui Province from 2021 to 2023
Liujun ZHANG ; Jiale CHEN ; Xing FENG ; Weizhen CHEN ; Yafei DENG ; Bo WANG ; Guolin ZUO ; Shaojun HE ; Honglei XIN ; Deyi LIU
Chinese Journal of Zoonoses 2025;41(7):697-703
This study was aimed at investigating the infection status of orf virus(ORFV)and the genetic evolution characteristics of epidemic ORFV isolates from Anhui province.A total of 303 clinical samples collected from major meat sheep breeding cities in An-hui during 2021-2023 were subjected to ORFV detection with fluorescence quantitative PCR(qPCR).The full-length B2L and F1L genes of ORFV in the positive samples were amplified through conventional PCR and sequenced.Genetic evolution analysis of the B2L and F1L genes was conducted after sequencing.The qPCR results indicated a total ORFV positivity rate in the clinical samples of 48.8%(148/303).Multiple sequence comparisons indicated that the B2L genes of 56 sample isolates shared 96.7%-100.0%DNA and 97.4%-100.0%amino acid sequence identity.Moreover,the F2L genes of 56 sample isolates shared 95.1%-100.0%DNA and 95.0%-100.0%amino acid sequence identity.The genetic evolution tree constructed with the B2L gene DNA sequences indicated sample iso-lates and 21 reference strains located in subgroup 1,and 26 sheep-derived sample isolates and 17 reference strains located in sub-group 2.Among them,the goat-derived sample isolate FY-TYA was located in the same sub-branch as the human-derived reference strain Gansu,whereas the goat-derived sample isolate FY-XQC was located in the same sub-branch as the reference strains China Vaccine and OV-HLJ-04.The genetic evolution tree constructed with the F1L gene DNA sequences showed,the goat sample isolates FY-XQA and FY-XQC were located in the same sub-branch as the sheep-derived reference strain Xinjiang.ORFV infection was rela-tively widespread in the major meat sheep breeding areas of Anhui province,and the DNA and amino acid sequences of the B2L and F1L genes of current circulating ORFV isolates showed different degrees of genetic variation,among which F1L gene had a high de-gree of variation.Furthermore,some goat-derived sample isolates were closely related to human,vaccine,and sheep-derived refer-ence strains.These results may serve as a reference for the prevention and control of ORFV infection in Anhui province.
8.Application of artificial intelligence in the study of cancer diagnosis and treatment research
Honglei LIU ; Yingliang YANG ; Ronghao LI ; Congmin ZHU ; Xu ZHANG
Journal of Capital Medical University 2025;46(3):395-400
As a major global public health concern,cancer has witnessed a continues rise in both incidence and mortality rates.It pose not only a severe threat to human health but also a heavy burden on socioeconomic systems.Despite remarkable advancements in oncology research,critical challenges such as tumor heterogeneity,drug resistance,and limitations in early screening and diagnostic technologies remain to be addressed.Against this backdrop,artificial intelligence(AI),with its unique advantages in big data analysis,pattern recognition,and predictive modeling,has opened new avenues for cancer research.By integrating multi-modal data,including omics,imaging,and clinical information,AI not only accelerates investigations into fundamental tumor mechanisms but also demonstrates immense potential in areas such as early screening,biomarker discovery,and personalized treatment.These advancements have fostered a deeper integration of precision medicine and oncology.This review provides a comprehensive overview of the most recent progresses in the application of AI in cancer diagnosis and treatment research,with a focus on its practical value across diverse data types and clinical scenarios,as well as future directions for its development.
9.A case-control study on the attention characteristics of patients with stable schizophrenia
Honglei YANG ; Kang XIE ; Qunshan WANG ; Zhenyue LIU ; Wenjia LIU ; Xinyi GE ; Xianyun LI
Chinese Journal of Nervous and Mental Diseases 2025;51(1):32-37
Objective To investigate the attention characteristics of patients with stable schizophrenia.Methods Fifty-five stable schizophrenic patients and 55 healthy subjects were included in the study.The attention network test paradigm(ANT paradigm)was used to measure the attention of participants.The observed indexes included reaction time under four cues and three stimulus types and converted reaction time(alerting network,orienting network,and executive control network).Results Under different cue prompts and stimulus conditions,the reaction time of patients with stable-phase schizophrenia was higher than that of the control group(P<0.001).The alerting network[25.43(11.71,42.53)ms vs.39.32(27.46,51.98)ms,P=0.020]and executive control network[96.17(36.32,160.13)ms vs.44.43(18.52,89.73)ms,P<0.001]in the patient group were significantly lower than those in the control group,while there was no significant difference in the orienting network compared to the control group(P=0.136).Conclusion Patients with stable schizophrenia show significant impairment in the efficiency of the alerting and executive control networks,while the orienting network is not significantly impaired.
10.Application of artificial intelligence in the study of cancer diagnosis and treatment research
Honglei LIU ; Yingliang YANG ; Ronghao LI ; Congmin ZHU ; Xu ZHANG
Journal of Capital Medical University 2025;46(3):395-400
As a major global public health concern,cancer has witnessed a continues rise in both incidence and mortality rates.It pose not only a severe threat to human health but also a heavy burden on socioeconomic systems.Despite remarkable advancements in oncology research,critical challenges such as tumor heterogeneity,drug resistance,and limitations in early screening and diagnostic technologies remain to be addressed.Against this backdrop,artificial intelligence(AI),with its unique advantages in big data analysis,pattern recognition,and predictive modeling,has opened new avenues for cancer research.By integrating multi-modal data,including omics,imaging,and clinical information,AI not only accelerates investigations into fundamental tumor mechanisms but also demonstrates immense potential in areas such as early screening,biomarker discovery,and personalized treatment.These advancements have fostered a deeper integration of precision medicine and oncology.This review provides a comprehensive overview of the most recent progresses in the application of AI in cancer diagnosis and treatment research,with a focus on its practical value across diverse data types and clinical scenarios,as well as future directions for its development.

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