1.Exon Sequencing of HNF1β in Chinese Patients with Early-Onset Diabetes
Siqian GONG ; Hong LIAN ; Yating LI ; Xiaoling CAI ; Wei LIU ; Yingying LUO ; Meng LI ; Si-min ZHANG ; Rui ZHANG ; Lingli ZHOU ; Yu ZHU ; Qian REN ; Xiuying ZHANG ; Jing CHEN ; Jing WU ; Xianghai ZHOU ; Xirui WANG ; Xueyao HAN ; Linong JI
Diabetes & Metabolism Journal 2025;49(2):321-330
Background:
Maturity-onset diabetes of the young (MODY) due to variants of hepatocyte nuclear factor 1-beta (HNF1β) (MODY5) has not been well studied in the Chinese population. This study aimed to estimate its prevalence and evaluate the application of a clinical screening method (Faguer score) in Chinese early-onset diabetes (EOD) patients.
Methods:
Among 679 EOD patients clinically diagnosed with type 2 diabetes mellitus (age at diagnosis ≤40 years), the exons of HNF1β were sequenced. Functional impact of rare variants was evaluated using a dual-luciferase reporter system. Faguer scores ≥8 prompted multiplex ligation-dependent probe amplification (MLPA) for large deletions. Pathogenicity of HNF1β variants was assessed following the American College of Medical Genetics and Genomics (ACMG) guidelines.
Results:
Two rare HNF1β missense mutations (E105K and G454R) were identified by sequencing in five patients, showing functional impact in vitro. Another patient was found to have a whole-gene deletion by MLPA in 22 patients with the Faguer score above 8. Following ACMG guidelines, six patients carrying pathogenic or likely pathogenic variant were diagnosed with MODY5. The estimated prevalence of MODY5 in Chinese EOD patients was approximately 0.9% or higher.
Conclusion
MODY5 is not uncommon in China. The Faguer score is helpful in deciding whether to perform MLPA analysis on patients with negative sequencing results.
2.Application of AI versus Mimics software for three-dimensional reconstruction in thoracoscopic anatomic segmentectomy: A retrospective cohort study
Chengpeng SANG ; Yi ZHU ; Yaqin WANG ; Li GONG ; Bo MIN ; Haibo HU ; Zhixian TANG
Chinese Journal of Clinical Thoracic and Cardiovascular Surgery 2025;32(03):313-321
Objective To analyze the application effects of artificial intelligence (AI) software and Mimics software in preoperative three-dimensional (3D) reconstruction for thoracoscopic anatomical pulmonary segmentectomy. Methods A retrospective analysis was conducted on patients who underwent thoracoscopic pulmonary segmentectomy at the Second People's Hospital of Huai'an from October 2019 to March 2024. Patients who underwent AI 3D reconstruction were included in the AI group, those who underwent Mimics 3D reconstruction were included in the Mimics group, and those who did not undergo 3D reconstruction were included in the control group. Perioperative related indicators of each group were compared. Results A total of 168 patients were included, including 73 males and 95 females, aged 25-81 (61.61±10.55) years. There were 79 patients in the AI group, 53 patients in the Mimics group, and 36 patients in the control group. There were no statistical differences in gender, age, smoking history, nodule size, number of lymph node dissection groups, postoperative pathological results, or postoperative complications among the three groups (P>0.05). There were statistical differences in operation time (P<0.001), extubation time (P<0.001), drainage volume (P<0.001), bleeding volume (P<0.001), and postoperative hospital stay (P=0.001) among the three groups. There were no statistical differences in operation time, extubation time, bleeding volume, or postoperative hospital stay between the AI group and the Mimics group (P>0.05). There was no statistical difference in drainage volume between the AI group and the control group (P=0.494), while there were statistical differences in operation time, drainage tube retention time, bleeding volume, and postoperative hospital stay (P<0.05). Conclusion For patients requiring thoracoscopic anatomical pulmonary segmentectomy, preoperative 3D reconstruction and preoperative planning based on 3D images can shorten the operation time, postoperative extubation time and hospital stay, and reduce intraoperative bleeding and postoperative drainage volume compared with reading CT images only. The use of AI software for 3D reconstruction is not inferior to Mimics manual 3D reconstruction in terms of surgical guidance and postoperative recovery, which can reduce the workload of clinicians and is worth promoting.
3.The impact of migration experience on the chronic disease of rural older adults:Based on CHARLS 2011-2020 data
Dan TANG ; Xing-yu LI ; Zheng-min GONG
Chinese Journal of Health Policy 2025;18(5):50-57
Objective:To analyze the effect of migration experiences during working age on the status of chronic disease development among rural older adults.Methods:Based on data from the China Health and Retirement Longitudinal Study(CHARLS),this study applied regression model and group-based trajectory model to examines the impact of migration experience on the status and growth trajectories of chronic diseases among rural older adults.Results:(1)Rural older adults with migration experience are more likely to develop chronic diseases and have a greater number of chronic disease in later life.(2)Rural older adults with migration experiences have a higher starting point and a faster rate of growth trajectory of chronic disease.Suggestions:It is necessary to strengthen occupational protection and health education for the rural-urban migrant population,reinforce the intervention and management of chronic diseases for the returning population,and improve the whole life-cycle medical insurance system,to break the disadvantageous cumulative effect of migration experience on health.
4.Analysis of clinical indexes and risk factors of pancreatitis after endoscopic retrograde cholangiopancreatography operation in elderly patients
Qiang LI ; Lin TANG ; Xing LI ; Min GONG
Journal of Clinical Surgery 2025;33(6):619-622
Objective To explore the influencing factors of postoperative pancreatitis in elderly patients with common bile duct stones undergoing endoscopic retrograde cholangiopancreatography(ERCP).Methods 304 elderly patients with common bile duct stones treated with ERCP in our hospital from February 2021 to June 2023 were selected as the study subjects.They were divided into a group with concurrent pancreatitis(n=22)and a group without concurrent pancreatitis(n=282)based on whether postoperative pancreatitis occurred.And the levels of serum lipase,whole blood PLR,and serum CRP were measured before surgery and 3,6,and 24 hours after surgery,respectively.At the same time,the differences in other relevant clinical data between the two groups of patients were compared.Binary Logistic regression was used to analyze the risk factors of pancreatitis after ERCP.Results The serum lipase levels in the concurrent pancreatitis group at 3,6,and 24 hours after the operation were(1060.48±131.23)U/L,(1137.45±126.34)U/L,and(1152.87±135.05)U/L,respectively.The levels of PLR in whole blood were 192.24±29.26,216.45±30.24,and 243.62±38.22 respectively,all of which were higher than those in the group without concurrent pancreatitis during the same period.There was a statistically significant difference between the two groups(P<0.05).The serum CRP level in the group with pancreatitis was significantly higher than that in the group without pancreatitis at 6 and 24 h after operation(P<0.05).Body mass index,Oddi sphincter dysfunction,difficulty in intubation,pancreatic development,ERCP operation time>60 min,multiple entry of the catheter into the pancreatic duct were associated with postoperative pancreatitis after ERCP in elderly patients(P<0.05).Multivariate Logistic regression analysis showed that after adjusting for confounding factors such as gender,age,BMI,course of disease,and number of stones,Serum lipase at 3 h after surgery,whole blood PLR at 3 h after surgery,serum CRP level at 6 h after surgery,difficulty in intubation and pancreatic development were independent risk factors for pancreatitis after ERCP in elderly patients(P<0.05).Conclusion Serum lipase,whole blood PLR levels 3 hours after surgery,and serum CRP levels 6 hours after surgery are independent risk factors for pancreatitis after ERCP in the elderly with common bile duct stones.
5.Translate the nursing time management Scale into Chinese version and test its reliability and validity
Hong YUE ; Min HUANG ; Xiaofang HUANG ; Liping YANG ; Jinmei GONG ; Honghui LI
Modern Clinical Nursing 2025;24(2):61-67
Objective To translate the nursing time management scale(NTMS)into Chinese and test its reliability and validity,hence to provide a tool for evaluating the time management among nurses in China.Methods Authorised by the author on June 30th,2023,the English version of NTMS was translated into a Chinese version through forward translation,reverse translation,cross-cultural debugging and pre-test by using Brislin translation model.Between September 2023 and January 2024,a convenience sampling method was employed to select a total of 409 nurses as the test subjects from five hospitals of Grade IIA and above in Dongguan.Then the reliability and validity of the translated version of NTMS were tested.Results All 409 nurses completed the tests.The Chinese version of NTMS included three dimensions comprising 15 items:6 in nursing work planning and goal setting,3 in organisation of nursing work and 6 in coordination of nursing work.It was found that the mean scale content validity index(S-CVI/Ave)was 0.920,and the item-level CVI(I-CVI)ranged from 0.840 to 1.000.The overall Cronbach's α coefficient of the scale was 0.894,with 0.700 for the split-half reliability coefficient of and 0.942 for the retest reliability.The Cronbach's α coefficient of each of the 3 dimensions ranged from 0.781 to 0.901,with the split-half reliability coefficient from 0.823 to 0.870 and the retest reliability from 0.692 to 0.965.In the exploratory factor analysis,the KMO value was 0.904.The statistic test of Bartlett's sphericity was 3941.503(P<0.05),with the factor load range of each entry from 0.629 to 0.838.The cumulative variance contribution rate was 67.672%.Conclusion The translated Chinese version of the nursing time management scale demonstrates good reliability and validity.It can be applied as an effective evaluation tool in the nursing time management.
6.Progress of GARP protein from tumor immune evasion to immunotherapy
Hexian GONG ; Hui SONG ; Yanan MIN
Journal of Leukemia & Lymphoma 2025;34(9):569-573
GARP is a key molecule on regulatory T cells (Treg cells) that stabilizes and activates the immune regulation of potential active latent transforming growth factor-β (LTGF-β). Recent studies have revealed that GARP contributes to tumor immune evasion by promoting tumor immunosuppression and inhibiting effector T cell function, and GARP is closely associated with various immune-related diseases. Therapeutic strategies targeting the GARP-TGF-β axis, including monoclonal antibodies and genetic engineering techniques, show a promising potential in enhancing antitumor immune responses and regulating excessive inflammation. This review summarizes GARP's role and explores its application in tumor immunotherapy and inflammatory diseases management, providing a reference for future therapies for GARP.
7.Research on the prevalence of overweight and obesity among children
Xinyi LIANG ; Jingnan CHEN ; Xuelian ZHOU ; Ruimin CHEN ; Jingsi LUO ; Rongxiu ZHENG ; Chunxiu GONG ; Chunlin WANG ; Zhe SU ; Mireguli MAIMAITI ; Yan LIANG ; Hui YAO ; Haiyan WEI ; Hongwei DU ; Shaoke CHEN ; Yu YANG ; Feihong LUO ; Pin LI ; Min ZHU ; Wei WU ; Ke HUANG ; Guanping DONG ; Junfen FU
Chinese Journal of Pediatrics 2025;63(6):612-619
Objective:To investigate the prevalence and risk factors of overweight and obesity among Chinese children aged 3-18 years from 11 provinces, antonomous regions, or municipalities.Methods:This national cross-sectional community health survey utilized a multistage stratified cluster-random sampling method to recruit 193 997 nationally representative participants from 11 provinces, autonomous regions, or municipalities between January 2017 and December 2019. All participants underwent physical examinations, and their caregivers completed questionnaires assessing participants′ dietary, lifestyle, familial, and perinatal information. Multilevel multinomial logistic regression models were employed to identify the potential risk factors.Results:The cohort comprised 193 997 children (102 178 boys, 91 819 girls),aged (10±4) years. Overall prevalence rates were 30 574(15.8%)overweight children and 17 217(8.9%) obesity children. Boys exhibited higher overweight and obesity rates than girls (17.0% (17 368/102 178) vs. 14.4% (13 206/102 178), 11.3% (11 553/91 819) vs. 6.2% (5 664/91 819), χ2=249.12,1 578.69,both P<0.001). The detection rates of obesity in Tanner stage 2 and 3 were the highest in boys and girls, with 13.4%(2 231/16 665) and 8.6%(880/10 221) respectively. Risk factors for obesity included parental overweight (paternal OR=2.34 and maternal OR=2.29), annual household income of 100 000-200 000 yuan (compared with<100 000 yuan, OR=1.04), higher paternal education (compared with below high school,high school and a college education OR=1.09,1.14), birth weight >4.0 kg (≤5 and>5 years old OR=1.74, 1.44,respectively), and western food consumption≥1 time/month (compared with<1, 1-2, 3-4,>4 times/month OR=1.36, 1.30, 1.67(≤5 years), 1.19, 1.16, 1.15 (>5 years), respectively) (all P<0.05). Conversely, coarse grain intake≥1 times/week (compared with<1 times/week, every day, 3-4, 1-2 times/week OR=0.74, 0.80, 0.71 (≤5 years), 0.75, 0.87, 0.90(>5 years), respectively, all P<0.05) was associated with reduced obesity risk. Conclusions:Obesity epidemiology in children demonstrates significant heterogeneity across age, gender, geographic regions, and pubertal stages. It is necessary to establish a personalized prevention and control strategy.
8.The efficacy and safety of high-frequency irreversible electroporation for benign prostatic hyperplasia: a randomized controlled open-label multicenter trial
Liang DONG ; Zhen TONG ; Benkang SHI ; Qianyuan ZHUANG ; Yuanwei LI ; Min GONG ; Xiaoming XU ; Shengcai ZHOU ; Xulai TAO ; Xinxing DU ; Haifeng WANG ; Jian HUANG ; Wei XUE
Chinese Journal of Urology 2025;46(3):161-165
Objective:To investigate the efficacy and safety of high-frequency irreversible electroporation (H-FIRE) in treating benign prostatic hyperplasia (BPH).Methods:This randomized controlled open-label multicenter clinical trial enrolled patients from nine medical centers in China between August 2020 and July 2022. Inclusion criteria: age 50–80 years, International Prostate Symptom Score (IPSS) ≥12, maximum urinary flow rate (Q max) >5 ml/min and ≤15 ml/min. Exclusion criteria: prostate malignancy, contraindications to surgery or anesthesia. Patients were randomized 1∶1 into the H-FIRE group (experimental) or the control group (daily oral 0.2 mg tamsulosin hydrochloride sustained-release capsules). Primary outcomes included Q max, IPSS, prostate volume, and International Index of Erectile Function-5 (IIEF-5) scores, measured at baseline, 1 and 3 months post-treatment. Results:A total of 160 cases were included in this study, including 80 cases in the experimental group and 80 cases in the control group, 30 cases in Renji Hospital, 7 cases in Qilu Hospital of Shandong University, 8 cases in Tongji Hospital, 3 cases in Hunan Provincial Hospital, 13 cases in Shanghai Pudong Hospital, 29 cases in Hwa Mei Hospital, 18 cases in Yiyuan County People's Hospital, and 38 cases in Shanghai East Hospital, and 14 cases in Sun Yat-sen Memorial Hospital. At 3 months of post-treatment, Q max in the experimental group increased by a median of 7.50 (3.55, 14.50) ml/s from the baseline value, whereas in the control group it increased by a median of 1.70 (-1.40, 6.00) ml/s, and the difference between the two groups was statistically significant ( P < 0.01, U = 1 083); and at 3 months of post-treatment, IPSS in the experimental group decreased by a median of 12.00 (7.00, 17.00) points in the test group and 6.00 (2.00, 11.00) points in the control group, and the magnitude of improvement in IPSS scores in the test group was significantly higher than that in the control group ( P < 0.01, U = 1 248); at 3 months of post-treatment, the prostate volume decreased by a median of 12.16 (5.69, 18.27) ml in the experimental group and 0 (-3.94, 6.89) ml in the control group, suggesting that H-FIRE significantly reduced prostate gland volume ( P<0.01, U=1 111). The difference in elevated IIEF-5 scores from baseline at 3 months of treatment between the experimental and control groups was not statistically significant[0(-2.00, 1.00) points vs. 0(-2.00, 1.50) points; P=0.54, U=2 338]. There were no serious adverse events in the two groups. Conclusions:H-FIRE could significantly improve both subjective and objective symptoms of BPH with a low risk of severe complications.
9.Analysis of anal human papillomavirus infection among HIV-positive men who have sex with men in Shenzhen
Tingdan GONG ; Tianyang LIU ; Jie QIN ; Siwei ZHANG ; Rongqing YANG ; Wenzhu CHU ; Lanlan WEI ; Min ZHUANG
Chinese Journal of Microbiology and Immunology 2025;45(4):277-284
Objective:To investigate the prevalence and genotype distribution of human papillomavirus (HPV) infection in the anorectal region among human immunodeficiency virus (HIV)-positive men who have sex with men (MSM) in Shenzhen, and explore the differences between HIV-positive and HIV-negative MSM populations, providing scientific evidence for HPV screening, vaccination, and related disease prevention.Methods:A total of 100 MSM recruited from the Department of Dermatovenerology of the Third People′s Hospital of Shenzhen between 2023 and 2024 were included. Questionnaire collected sociodemographic and clinical characteristics. Anorectal exfoliated cells were analyzed for HPV genotyping, and blood samples were tested for HIV antibodies and T lymphocyte subsets. Chi-square test was used to assess associations between qualitative variables. Results:Among 100 MSM, 58 were HIV-positive and 42 HIV-negative. The overall HPV infection rate was 93.10% (54/58) in HIV-positive MSM, with high-risk HPV at 79.31% (46/58) and low-risk HPV at 75.86% (44/58). The predominant genotypes were HPV6, 11, 16, 52, 18, 59, and 68. In HIV-negative MSM, HPV infection rate was 95.24% (40/42), with high-risk HPV at 57.14% (24/42) and low-risk HPV at 92.50% (37/40), dominated by HPV6, 11, 16, 51 and 52. HIV-positive MSM showed significantly higher infection rates of high-risk HPV16/18 ( P=0.032), HPV58 ( P=0.020), HPV59 ( P=0.031), and HPV68 ( P=0.007) compared to HIV-negative MSM. The maximum number of concurrent HPV infections was 12 in HIV-positive MSM versus 4 in HIV-negative MSM. Multivariate analysis revealed that HIV-positive MSM with CD4/CD8 ratio≤0.9 had significantly higher HPV positivity ( P<0.05). Conclusions:HIV-positive MSM exhibit elevated rates of high-risk and multiple HPV infections, closely associated with immune dysfunction. Strengthened HPV screening, vaccination, and immune status management are critical for preventing HPV-related malignancies in the population.
10.The early and mid-term efficacy of three-dimensional printed customized porous prosthesis with preserved articular in the reconstruction of ultra-long segmental bone defect around the metaphysis of peri-knee
Jinyang LI ; Zhuangzhuang LI ; Taojun GONG ; Xin HU ; Linyun TAN ; Yong ZHOU ; Yi LUO ; Minxun LU ; Chongqi TU ; Li MIN
Chinese Journal of Orthopaedics 2025;45(11):735-741
Objective:To explore the early and mid-term efficacy of three-dimensional printed customized porous prosthesis with preserved articular in the reconstruction of ultra-long segmental bone defect around the metaphysis of peri-knee.Methods:A retrospective analysis was conducted on the data of 24 patients who underwent reconstruction of ultra-long segmental bone defect around the metaphysis of peri-knee using 3D-printed customized porous prostheses at West China Hospital of Sichuan University from June 2015 to June 2021. There were 14 female cases and 10 male cases, with an average age of 28.9±16.5 years (range, 12-61 years), 12 cases at the distal end of the femur and 12 cases at the proximal end of the tibia. Tumor types: 16 cases of osteosarcoma, 4 cases of Ewing's sarcoma, 2 cases of chondrosarcoma, and 2 case of parosteal osteosarcoma. All patients were classified as Enneking stage IIB. Record the oncology results of the patients, the length of tumor segment resection, and the remaining bone length at the distal femur or proximal tibia, as well as complications, systemic metastasis and imaging changes. The bone integration at the prosthesis-bone interface was evaluated by tomosynthesis-shimadzu metal artifact reduction technology (T-SMART). Limb function was evaluated using the Musculoskeletal Tumor Society (MSTS)-93 score and knee range of motion assessment.Results:All 24 patients successfully completed the surgery and were followed up, with an average follow-up time of 51.8±12.7 months (range, 32-99 months). The length of femoral osteotomy was 241.1±66.2 mm (range, 150.6-333.4 mm), and the length of tibial osteotomy was 198.6±35.6 mm (range, 156.6-287.6 mm). The remaining bone length at the epiphyseal end around the knee joint (from the knee joint plane to the osteotomy plane of the distal femur or proximal tibia) was 52.6±11.0 mm (range, 31.1-77.5 mm). At the last follow-up, 23 patients survived tumor-free, while one patient died due to lung metastasis 54 months after the operation. One patient had prosthesis fracture 75 months after the operation, two patients had aseptic loosening 6 and 8 months after the operation, and the T-SMART of the remaining 20 patients showed that the implanted prostheses all achieved good osseointegration. At the last follow-up, the range of motion of the knee joint was 126.2°±7.5° (range, 110.0°-140.0°), and the MSTS-93 score was 26.7±1.8 points (range, 23-30 points). Among them, the MSTS-93 score of the femoral prosthesis was 26.7±1.6 points (range, 24-29 points), and the MSTS-93 score of the tibial prosthesis was 26.9±1.9 points (range, 23-30 points). The average knee range of motion was 126.2°±7.5° (range, 110°-140°), and the MSTS-93 functional score was 26.7±1.8 points (range, 23-30 points) at the last follow-up. The femoral component had an average score of 26.7±1.6 points (range, 24-29 points), while the tibial component had an average score of 26.9±1.9 points (range, 23-30 points).Conclusion:The application three-dimensional printed customized porous prosthesis with preserved articular in the reconstruction of ultra-long segmental bone defect around the metaphysis of peri-knee can preserve the joint, restore limb function well, and have a low incidence of prosthesis complications, with good clinical efficacy in the early and middle stages.

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