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.A case-crossover study on association between ambient temperature and injury incidence in Shenzhen City
Yan MA ; Qijiong ZHU ; Weicong CAI ; Ping XU ; Zhixue LI ; Jianxiong HU ; Wenjun MA ; Tao LIU ; Ying XU ; Ji PENG
Journal of Environmental and Occupational Medicine 2025;42(5):536-542
Background Under the background of global warming, research on association between ambient temperature and risk of injury is needed. Objective To examine the effect of temperature on injury in Bao'an district, Shenzhen and identify the sensitive population, thereby providing a scientific basis for formulating prevention and control strategies and measures of injury. Methods The injury reports from the Injury Surveillance System and the meteorological data of Bao'an District between 2018 to 2022 were collected. The meteorological data were sourced from the fifth generation of the European Centre for Medium-Range Weather Forecasts (ECMWF) land reanalysis data. Based on time-stratified case-crossover design, conditional logistic regression combined with distributed lag nonlinear model was used to evaluate the exposure-response association between ambient temperature and injury. The stratified analyses were further conducted by gender, age, and causes of injury. Results A total of
3.Relationship between Apelin and DLL4 levels and clinical stage and efficacy in patient with neovascular glaucoma
Feng ZHU ; Nianjun CHEN ; Wei CAI ; Ximei LI ; Qifeng LEI
International Eye Science 2025;25(7):1130-1134
AIM: To investigate the relationship between Apelin and δ-like ligand 4(DLL4)expression levels and clinical stage and efficacy in patients with neovascular glaucoma(NVG).METHODS: A total of 96 NVG patients(96 eyes)who were admitted to our hospital from January 2022 to March 2024(NVG group)and 96 cataract patients(96 eyes)who underwent cataract surgery in our hospital during the same period(control group)were selected. NVG patients were divided into stage Ⅰ group(22 eyes), stage Ⅱ group(47 eyes)and stage Ⅲ group(27 eyes)according to the clinical stage; furthermore, patients were divided into ineffective group(20 eyes)and effective group(76 eyes)according to efficacy. Aqueous humor Apelin and DLL4 levels were detected by enzyme-linked immunosorbent assay. The influencing factors of the efficacy in NVG patients were analyzed by multivariate unconditional Logistic regression analysis, the evaluation efficiency of aqueous humor Apelin and DLL4 levels on the efficacy in NVG patients was analyzed by receiver operating characteristic(ROC)curve.RESULTS: Compared with the control group, aqueous humor Apelin and DLL4 levels in the NVG group were increased(all P<0.001). Aqueous humor Apelin and DLL4 levels in the stage Ⅰ, stage Ⅱ and stage Ⅲ groups increased in turn(all P<0.001). The effective rate of 96 NVG patients was 79.2%(76/96). Compared with the effective group, aqueous humor Apelin and DLL4 levels in the ineffective group increased(all P<0.001). Clinical stage III, high intraocular pressure, high Apelin and DLL4 were independent risk factors for ineffective treatment in NVG patients(all P<0.05). The area under the curve of the combined evaluation of aqueous humor Apelin and DLL4 levels in evaluating the efficacy of NVG patients was 0.874, which was greater than 0.790 and 0.786 of aqueous Apelin and DLL4 levels alone(all P<0.05).CONCLUSION: Aqueous humor Apelin and DLL4 levels in NVG patients increase, which relate to the increase of clinical stage and poor efficacy, and the combination of aqueous humor Apelin and DLL4 levels is more effective in evaluating the efficacy of NVG patients.
4.Prevalence of common illness among primary school freshmen in Guiyang and parental health management service needs after the examination
CAI Jinghui, ZHU Yan, ZHANG Jiacai, FANG Xue
Chinese Journal of School Health 2025;46(2):285-289
Objective:
To understand the health status of primary school freshmen in Guiyang and the health management service needs of parents after examination, so as to provide a reference for establishment of a collaborative health management framework involving schools, families, and healthcare providers.
Methods:
From September to October 2024, a stratified random cluster sampling method was used in Guiyang City to select 3 210 students and 3 133 parents who participated in the physical examination for primary school freshmen. Demographic indicators, physical examination indicators and laboratory examination indicators of students were collected, and parents needs for post examination health management service were investigated by self designed questionnaire. Multiple linear regression analysis was adopted to investigate the related factors of parents health management service needs after the examination.
Results:
The detection rates of common illness among primary school freshmen were 60.22% for dental caries, 17.23 % for screening myopia, 6.11% for obesity, 3.86% for iron deficiency anemia, and 1.15% for scoliosis. The co-occurrence rate of common illness among freshmen during the physical examination was 23.89% ( n =767), among which the comorbidity rate of screening myopia and dental caries (8.22%) and obesity and dental caries (4.27%) were higher. About 63.80% parents indicated that the physical examination items were simple, and 2 366 parents (75.52%) indicated a demand for post examination management services; the average score of parents demands for post examination services was (3.12±0.70). In terms of the scores of each dimension, the mean score of nutrition and health (3.58±0.74) was the highest, while the lowest mean score was for traditional Chinese medicine health care (2.77±0.67). The mean scores for the other dimensions were as follows:exercise intervention (3.29± 0.79 ), psychological monitoring (3.17±0.58), and health education and signing (2.81±0.73). The results of multiple linear regression analysis showed that parents educational level (junior high school, high school/vocational school, college/undergraduate and above), living conditions (floating), and children s illness status (1, 2, >3 types) were the related factors of parents health management service needs after the entrance examination for new students ( B =2.16, 3.07, 3.68; -2.19; 3.14, 3.34, 3.11, P <0.05).
Conclusions
The prevalence of common illness in primary schools in Guiyang is characterized by a heavy burden from single diseases, with a notable occurrence of multiple comorbidities. After the physical examination, parents have obvious demand for follow up health management services. These health management services should integrate the concept of multi disease prevention according to the needs of parents.
5.Mechanism of Wumen Zhiqiao gancao decoction inhibiting pathological angiogenesis in degenerative intervertebral discs by regulating HIF-1α/VEGF/Ang signal axis
Zeling HUANG ; Zaishi ZHU ; Yuwei LI ; Bo XU ; Junming CHEN ; Baofei ZHANG ; Binjie LU ; Xuefeng CAI ; Hua CHEN
China Pharmacy 2025;36(7):807-814
OBJECTIVE To explore the effect and mechanism of Zhiqiao gancao decoction (ZQGCD) on pathological angiogenesis of degenerative intervertebral disc. METHODS The rats were randomly divided into sham operation group (normal saline), model group (normal saline), hypoxia inducible factor-1α (HIF-1α) inhibitor (YC-1) group [2 mg/(kg·d), tail vein injection], and ZQGCD low-dose, medium-dose and high-dose groups [3.06, 6.12, 12.24 g/(kg·d)], with 8 rats in each group. Except for sham operation group, lumbar disc degeneration model of rat was constructed in all other groups. After modeling, they were given relevant medicine once a day, for consecutive 3 weeks. After the last medication, pathological changes and angiogenesis of the intervertebral disc tissue in rats were observed; the levels of inflammatory factors [interleukin-1β (IL-1β), IL-6, tumor necrosis factor-α (TNF-α)] and the expressions of angiogenesis-related proteins [HIF-1α, vascular endothelial growth factor (VEGF), VEGF receptor 2 (VEGFR2), angiotensin 1(Ang 1), Ang 2] in the com intervertebral disc tissue in rats were all determined. In cell experiment, the primary nucleus pulposus cells were isolated and cultured from rats, and cellular degeneration was induced using 50 ng/mL TNF-α. The cells were divided into blank control group (10% blank control serum), TNF-α group (10% blank control serum), YC-1 group (10% blank control serum+0.2 mmol/L YC-1), and 5%, 10%, 15% drug-containing serum group (5%, 10%, 15% drug-containing serum). After 24 hours of intervention, the nucleus pulposus cells were co-cultured with HUVEC. The expressions of Collagen Ⅱ, matrix metalloproteinase-3 (MMP-3) in nucleus pulposus cells were detected. HUVEC proliferation, migration and tube forming ability were detected, and the expression levels of the HIF-1α/VEGF/Ang signal axis and angiogenesis- related proteins (add MMP-2, MMP-9) in HUVEC were detected. RESULTS Animal experiments had shown that compared with model group, the positive expression of CD31 in the intervertebral disc tissues of rats in each drug group was down-regulated (P< 0.05), the levels of inflammatory factors and angiogenesis-related proteins were decreased significantly (P<0.05), and the pathological changes in the intervertebral disc were alleviated. Cell experiments had shown that compared with TNF-α group, the expression of Collagen Ⅱ in nucleus pulposus cells of all drug groups was significantly up-regulated (P<0.05), and the expression of MMP-3 was significantly down-regulated (P<0.05); the proliferation, migration and tubulogenesis of HUVEC were significantly weakened (P<0.05). The mRNA and protein expressions of HIF-1α, VEGF, Ang 2 as well as the expression of angiogenesis-related proteins (except for the expression of Ang 2 mRNA and HIF-1α, VEGFR2, Ang 2 protein in 5% drug- containing serum group) were significantly down-regulated (P<0.05). CONCLUSIONS ZQGCD may inhibit the HIF-1α/VEGF/ Ang signal axis to weaken the angiogenic ability of vascular endothelial cells, improve pathological angiogenesis in the intervertebral disc, and delay the degeneration of the intervertebral disc.
6.Research progress of traditional Chinese medicine regulating PI3K/Akt signaling pathway to promote chronic wound healing
Zhenhui ZHU ; Zhi LI ; Yu LENG ; Tao CAI ; Xuefa SHEN ; Xianxue XIANG ; Yongxin HUANG
China Pharmacy 2025;36(8):1019-1024
The pathogenesis of chronic wound healing is complex. It is often difficult to heal due to a long course of disease, difficulty in treatment, and it seriously affects the quality of life in patients. The active ingredients, couplet medicinals, and compound formulas of traditional Chinese medicine (TCM) possess unique advantages in the treatment of chronic wound healing. The phosphatidylinositol 3-kinase/protein kinase B (PI3K/Akt) signaling pathway is extremely critical in the treatment of chronic wound healing by regulating a series of biological processes, including cell apoptosis, angiogenesis, and inflammatory responses. This article reviews the relevant research on the regulation of the PI3K/Akt signaling pathway by TCM to promote chronic wound healing. It has been found that the active ingredients of TCM (such as geniposide, astragaloside, and ginsenosides, etc.), and compound formulas (such as Chonghe ointment, Huanglian ointment, Shirun shaoshang ointment, etc.) mainly reduce inflammatory responses, promote angiogenesis, regulate cell autophagy, and accelerate wound healing by activating the PI3K/Akt signaling pathway; at the same time, there are also a few couplet medicinals( such as Huangqi-Honghua) and compound formulas (such as Xiangpi Shengji ointment) that exert anti-inflammatory effects by inhibiting this signaling pathway, to promote wound healing.
7.Association between sleep characteristics, physical activity patterns with depressive and anxiety symptoms in college students
Chinese Journal of School Health 2025;46(4):552-557
Objective:
To explore the relationship between sleep characteristics, physical activity patterns, with depressive and anxiety symptoms in college students, so as to provide reference for student mental health promotion.
Methods:
From September to November 2023, a convenience sampling method was used to select 7 954 college students aged 18-22 years from 9 universities in Shanghai, Hubei, and Jiangxi. Assessments were conducted using the International Physical Activity Questionnaire Short-Form (IPAQ-SF), Patient Health Questionnaire-9 (PHQ-9), Generalized Anxiety Disorder Scale-7 (GAD-7), and Pittsburgh Sleep Quality Index (PSQI) to evaluate physical activity, depressive and anxiety symptoms, and sleep quality, respectively. Logistic regression analysis was employed to explore the impact of sleep characteristics and physical activity patterns on depressive and anxiety symptoms and their comorbidity among college students.
Results:
The detection rates for depressive symptoms, anxiety symptoms, and comorbid depression and anxiety symptoms were 25.67%, 35.39%, and 23.15%, respectively. Factors such as gender, grade, household registration, parental education level, annual family income, family structure, and dietary habits were all associated with the detection rates of depressive and anxiety symptoms and their comorbidity (χ2=4.41-118.39, P<0.05). Physical activity patterns, sleep duration, sleep quality, and sleepwake characteristics were also associated with the occurrence of depressive and anxiety symptoms and their comorbidity (χ2=9.66-627.70, P<0.05). Logistic regression analysis showed that college students who stayed up late and slept less than 7 had the highest risk of depressive and anxiety symptoms and their comorbidity (OR=1.93, 1.85, 1.88, P<0.05). Compared to regular physical activity patterns, insufficient physical activity patterns were associated with an increased risk of depressive and anxiety symptoms (all OR=1.18, P<0.05). Further stratified analysis results showed that the risk of depression, anxiety and their comorbidity increased in college students who stayed up late and slept less than 7 h, went to bed before midnight and slept less than 7 h, or went to bed before midnight and slept more than 7 h but did not have sufficient physical activity (P<0.05).
Conclusions
Sleep characteristics and physical activity patterns significantly affect depressive and anxiety symptoms in college students. Universities should strengthen sleep management and implement flexible physical activity interventions to help students establish healthy lifestyles.
8.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.
9.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.
10.Identification of core genes of osteoarthritis by bioinformatics
Xuekun ZHU ; Heng LIU ; Hui FENG ; Yunlong GAO ; Lei WEN ; Xiaosong CAI ; Ben ZHAO ; Min ZHONG
Chinese Journal of Tissue Engineering Research 2025;29(3):637-644
BACKGROUND:At present,osteoarthritis has become a major disease affecting the quality of life of the elderly,and the therapeutic effect is poor,often focusing on preventing the disease process,and the pathogenesis of osteoarthritis is still not fully understood.Bioinformatics analysis was carried out to explore the main pathogenesis of osteoarthritis and related mechanisms of gene coding regulation. OBJECTIVE:To screen core differential genes with a major role in osteoarthritis by gene expression profiling. METHODS:Datasets were downloaded from the Gene Expression Omnibus(GEO):GSE114007,GSE117999,and GSE129147.Differential genes in the GSE114007 and GSE117999 data collections were screened using R software,performing differential genes to weighted gene co-expression network analysis.The module genes most relevant to osteoarthritis were selected to perform protein interaction analysis.Candidate core genes were selected using the cytocape software.The candidate core genes were subsequently subjected to least absolute shrinkage and selection operator regression and COX analysis to identify the core genes with a key role in osteoarthritis.The accuracy of the core genes was validated using an external dataset,GSE129147. RESULTS AND CONCLUSION:(1)A total of 477 differential genes were identified,265 differential genes associated with osteoarthritis were obtained by weighted gene co-expression network analysis,and 8 candidate core genes were identified.The least absolute shrinkage and selection operator regression analysis finally yielded a differential gene ASPM with core value that was externally validated.(2)It is concluded that abnormal gene ASPM expression screened by bioinformatics plays a key central role in osteoarthritis.


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