1.Effects and mechanisms of combined exposure to noise and microwave on hippocampal structure and function in mice
Chunxue LU ; Lei SHI ; Yue WANG ; Yanhui HAO ; Xuelong ZHAO ; Yang LI ; Hongyan ZUO ; Liqian ZHU
Journal of Environmental and Occupational Medicine 2026;43(4):419-426
Background Co-exposure to noise and microwave radiation occurs frequently. The central nervous system has been identified as a sensitive target organ for both noise and microwave exposure individually, and the underlying mechanisms remain poorly understood. The specific biological effects resulting from co-exposure to these two factors have yet to be fully elucidated. Objective To clarify the effects of co-exposure to noise and microwave on neurobehavior and hippocampal tissue structure, and to explore the underlying mechanism through the assessment of serum cytokines. Methods C57BL/6N mice were selected and randomly assigned to a blank control group, a noise group, a microwave group, and a combined noise & microwave exposure group. To establish the exposure models, the noise group was subjected to broadband noise at 100 dB for 2 h, while the microwave group received radiation at a central frequency of 9.375 GHz with an average power density of 12 mW·cm−2 and a specific absorption rate of 2.58 W·kg−1 for 15 min. Open field and tail suspension tests assessed anxiety-like emotional behaviour; novel object recognition and Y-maze tests evaluated cognitive function. Histological changes in hippocampal tissue were examined using haematoxylin and eosin (HE) staining, and Nissl staining under light microscopy. Serum cytokine levels were measured using radioimmunoassay and enzyme-linked immunosorbent assay (ELISA). Results After 3 d of exposure, the noise, microwave, and combined exposure groups showed significant reductions in exploration frequency, duration, and distance within the central zone of the open field test compared to the control group (P < 0.01); the combined exposure group exhibited increased ratios of peripheral-to-central exploration time and distance (P < 0.05). After 7 d of exposure, compared with the control group, the noise group maintained a decrease in central zone exploration time (P < 0.01), while the combined exposure group showed persistent decline across all central zone metrics (P < 0.05) and elevated peripheral-to-central ratios (P < 0.05); compared to the microwave group, the combined exposure group showed significant less time in the central zone (P < 0.05) and higher peripheral-to-central ratios (P < 0.05). Regarding behaviour and cognition, compared with the control group, the combined exposure group showed increased immobility time in the tail suspension test after 3 d of exposure (P < 0.01). At this interval, all exposure groups demonstrated reduced frequency and duration of novel object recognition (P < 0.05), with the combined exposure group showing a marked decrease in novel arm exploration time (P < 0.01). After 7 d of exposure, compared with the control group, the noise group showed reduced novel object recognition frequency (P < 0.05), and both the noise and microwave groups exhibited decreased novel arm exploration time (P < 0.05). Pathological alterations including an increased number of hyperchromatic nuclei and depleted Nissl bodies were observed in the CA3 and DG regions across all exposure groups with the most severe lesions observed in the combined exposure group. Serum levels of central nervous system-specific protein β (S-100β), glial fibrillary acidic protein (GFAP), and corticosterone (CORT) were significantly elevated in all exposure groups compared with the control group (P < 0.05). Aquaporin-4 (AQP4) levels increased in the combined exposure group (P < 0.05), while CXC chemokine ligand 10 (CXCL10) levels rose in both the noise and combined groups compared with the control group (P < 0.05). Specifically, S-100β and CXCL10 levels in the combined exposure group were higher than those in the microwave group (P < 0.05); moreover, levels of S-100β, GFAP, CORT, AQP4, and CXCL10 in the combined exposure group were significantly higher than those in the noise group (P < 0.05). Conclusion Combined exposure to noise and microwave radiation induces pathological changes in the hippocampus of mice, increases levels of serum stress hormones and neuro-specific biomarkers. These impairments are more severe than those observed following single-factor exposure. The underlaying mechanism may be related to systemic stress response, neuronal damage, astrocyte activation, and changes in blood-brain barrier permeability, leading to emotional behavioral abnormalities and cognitive decline.
2.Clinical observation of 25G+minimally invasive vitrectomy in the treatment of retinal arterial macroaneurysm
Nan ZHAO ; Tongtong LIU ; Yige XIA ; Haohao LU ; Yanhui HAN
International Eye Science 2025;25(7):1191-1194
AIM:To observe the therapeutic efficacy of 25G+minimally invasive vitrectomy for retinal arterial macroaneurysm.METHODS:Totally 40 patients(40 eyes)who admitted to Jinan Mingshui Eye Hospital from January 2021 to May 2024 and with vitreous hemorrhage or dense premacular hemorrhage in the macular area caused by retinal arterial macroaneurysm, underwent 25G+minimally invasive vitrectomy. Preoperative and postoperative best-corrected visual acuity(BCVA), complications, and special cases were analyzed.RESULTS: The general patient data aligned with previous literature reports. The postoperative BCVA was significantly improved(t=9.72, P<0.01), and no significant serious surgical complications were observed. Notably, intraoperative findings revealed secondary macular holes in 3 eyes, resulting in poor visual prognosis.CONCLUSION: For vitreous hemorrhage or dense premacular hemorrhage caused by retinal arterial macroaneurysm, 25G+ minimally invasive vitrectomy is a safe and effective treatment. Visual prognosis was excluded for secondary macular holes.
3.Epidemiological characteristics and related factors of multimorbidity of wasting and spinal curvature abnormalities among children and adolescents aged 6-18 years in Inner Mongolia Autonomous Region
Ziqi DONG ; Zhenting LU ; Xinli SONG ; Zhiying SONG ; Jieyu LIU ; Yi ZHANG ; Jianuo JIANG ; Ruolin WANG ; Wen YUAN ; Yang QIN ; Yi SONG ; Xiuhong ZHANG ; Tian YANG ; Yanhui DONG
Chinese Journal of Preventive Medicine 2025;59(2):151-159
Objective:To analyze the epidemiological characteristics of wasting, spinal curvature abnormalities and multimorbidity among children and adolescents aged 6-18 in Inner Mongolia and explore the related factors of these two health problems.Methods:In September 2022, a stratified random cluster sampling method was employed to select 188 635 children and adolescents aged 6-18 in Inner Mongolia for physical examinations and questionnaire surveys. Data on height, weight, as well as dietary behavior, physical activity, classroom environment, academic tasks, writing posture, and screen behavior were collected. The epidemiological characteristics of wasting, spinal curvature abnormalities and multimorbidity were analyzed. Additionally, a multivariate logistic regression model was used to analyze the factors associated with wasting, spinal curvature abnormalities and multimorbidity.Results:A total of 188 635 children and adolescents aged 6-18 years participated in this study, including 95 393 boys (50.6%) with an average age of (11.53±3.32) years. The detection rate of wasting was 3.79%, with a higher detection rate in boys (4.18%) than in girls (3.38%) ( P<0.001). The detection rate of spinal curvature abnormalities was 3.64%, with a higher detection rate in girls (4.04%) than in boys (3.25%) ( P<0.001). The detection rate of multimorbidity between wasting and spinal curvature abnormalities was 0.17%, and there was no statistically significant difference between genders ( P>0.05). The detection rates of wasting, spinal curvature abnormalities, and multimorbidity all increased with age ( P t<0.001). The multivariate logistic regression analysis showed that, after adjusting for gender, age, urban/rural status, and school grade, compared to children and adolescents who exercised ≥1 hour of moderate-to-vigorous physical activity (MVPA) for at least 5 days per week and had daily screen time <2 hours, those who exercised <5 days per week ( OR=1.28, 95% CI: 1.19-1.37) and had daily screen time ≥2 hours ( OR=1.11, 95% CI: 1.03-1.19) had a higher risk of wasting. Compared to children and adolescents who had ≥5 physical education (PE) classes per week, adjusted desk and chair height,<1 hour of after-school study/writing time, and whose parents or teachers rarely or never reminded them about posture, those with <5 PE classes per week ( OR=1.11, 95% CI: 1.02-1.21), unadjusted desk and chair height ( OR=1.08, 95% CI: 1.01-1.15),≥1 hour of after-school study/writing time ( OR=1.15, 95% CI: 1.07-1.24), frequent reminders from parents ( OR=1.16, 95% CI: 1.09-1.23), and frequent reminders from teachers ( OR=1.10, 95% CI: 1.04-1.16) had a higher risk of spinal curvature abnormalities. Compared to children and adolescents who did not consume sugary drinks daily, exercised ≥1 hour of MVPA for at least 5 days per week, and whose teachers rarely or never reminded them about posture, those who consumed sugary drinks daily ( OR=1.61, 95% CI: 1.00-2.46), exercised <5 days per week ( OR=1.33, 95% CI: 1.01-1.79), and had teachers who frequently reminded them about posture ( OR=1.35, 95% CI: 1.05-1.75) had a higher risk of multimorbidity between wasting and spinal curvature abnormalities. Conclusion:The detection rates of wasting, spinal curvature abnormalities and multimorbidity among children and adolescents aged 6-18 in Inner Mongolia are generally low, with an increasing trend observed with age. Both lifestyle and school environmental factors are associated with wasting, spinal curvature abnormalities and multimorbidity.
4.Changes of hemagglutinin gene characteristics of influenza virus A(H3N2) during the 2022-2024 influenza season in Beijing
Daitao ZHANG ; Xiaomin PENG ; Li ZHANG ; Jiachen ZHAO ; Jun XUN ; Yanhui CHU ; Lin ZOU ; Lili JI ; Peng YANG ; Quanyi WANG ; Guilan LU
Chinese Journal of Epidemiology 2025;46(6):1058-1066
Objective:To analyze the changes in the phylogenetic and antigenic characteristics of the hemagglutinin (HA) gene of influenza virus A(H3N2) [A(H3N2)] during the 2022-2024 influenza seasons in Beijing.Methods:The data of influenza-like cases and A(H3N2) strains from 17 network laboratories and their corresponding sentinel hospitals were collected during the 2022-2024 influenza seasons. The HA genes were amplified and sequenced after extracting nucleic acids of the chosen virus strains. BioEdit, the nucleotide and amino acid sequence identity were conducted, and the maximum likelihood method in MEGA 5.0 software was used to construct the phylogenetic tree of HA genes. Web Logo displayed the amino acid mutation, and the N-glycosylation sites of HA online were analyzed using the NetNGlyc1.0 Server online. The Datamonkey platform was utilized to analyze the positive selection pressure sites of the HA protein.Results:The 2022-2024 influenza season includes 2022-2023 and 2023-2024. During the influenza seasons of 2022-2024, the positive rates of A(H3N2) nucleic acid were 10.35% (2 127/20 543) and 10.47% (4 386/41 876), respectively. In the 2022-2023 influenza season, there were two peaks in the A(H3N2). The comparison of HA genes between all A(H3N2) strains studied with the 2022-2024 vaccine strain (A/Darwin/9/2021) revealed that all of the strains studied have the two amino acid mutations involving 186 and 225 receptor binding sites. There were 31 amino acid substitutions in the 2022-2023 influenza season, of which 18 variant sites involved antigenic determinants. There were 35 amino acid mutations during the 2023-2024 influenza season, of which 14 were related to antigenic determinants. There were changes in the genetic evolutionary subclades of A(H3N2) strains in two influenza seasons: from 2022 to 2023, three evolutionary subclades were co-prevalent together, with the 3C.2a1b.2a.2a.3a.1 accounting for 76.67% (23/30), the 3C.2a1b.2a.1a accounting for 20.00% (6/30), the 3C.2a1b.2a.2a.1 accounting for 3.33% (1/30); from 2023 to 2024, two subclades were prevalent, with 3C.2a1b.2a.2a.3a.1 accounting for 95.12% (39/41) and 3C.2a1b.2a.2a.1 accounting for 4.88% (2/41). The glycosylation site changes of the HA protein of A(H3N2) have been enhanced from 2023 to 2024. The 145 amino acid position of the HA protein of the A(H3N2) was the positive selection site for stress selection site analysis.Conclusions:The evolutionary subclades of the HA gene of A(H3N2) in Beijing showed changes from 2022 to 2024, and the glycosylation site polymorphism of the HA protein of A(H3N2) significantly increased from 2023 to 2024. Continuous monitoring of HA mutations in the A(H3N2) is crucial, providing a basis for developing influenza prevention and control strategies, as well as new strategic support for screening influenza vaccine components, vaccine design, and discovery of drug targets.
5.Azaphilone derivatives with RANKL-induced osteoclastogenesis inhibition from the mangrove endophytic fungus Diaporthe sp.
Miaoping LIN ; Yanhui TAN ; Humu LU ; Yuyao FENG ; Min LI ; Chenghai GAO ; Yonghong LIU ; Xiaowei LUO
Chinese Journal of Natural Medicines (English Ed.) 2025;23(9):1143-1152
This study identified six novel azaphilones, isochromophilones G-L (1-6), and three novel biosynthetically related congeners (7-9) from Diaporthe sp. SCSIO 41011. The structures and absolute configurations were elucidated through comprehensive spectroscopic analyses combined with experimental and calculated electronic circular dichroism (ECD) spectra. Significantly, three highly oxygenated azaphilones contain an acetyl group at the terminal chain (4) or linear conjugated polyenoid moieties (5 and 6), which occur infrequently in the azaphilone family. Additionally, several compounds demonstrated inhibition of lipopolysaccharide (LPS)-induced nuclear factor kappa-B (NF-κB) activation in RAW 264.7 macrophages at 20 μmol·L-1. The novel compound (1) effectively inhibited receptor activator of NF-κB ligand (RANKL)-induced osteoclast differentiation without exhibiting cytotoxicity in bone marrow and RAW 264.7 macrophages, indicating its potential as a promising lead compound for osteolytic disease treatment. This research presents the first documented evidence of azaphilone derivatives as inhibitors of RANKL-induced osteoclastogenesis.
Animals
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Mice
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RANK Ligand/genetics*
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RAW 264.7 Cells
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Osteoclasts/metabolism*
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Benzopyrans/isolation & purification*
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Osteogenesis/drug effects*
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Macrophages/metabolism*
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Molecular Structure
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Pigments, Biological/isolation & purification*
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Ascomycota/chemistry*
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NF-kappa B/genetics*
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Cell Differentiation/drug effects*
6.The Expression of Serum MiR-29b,MiR-199a,MiR-19a-3p in Patients with Acute Cerebral Infarction And Their Relationship with Disease Severity And Prognosis
Jia GUO ; Ruying JI ; Yanhui LU ; Bin LI ; Kang XU
Journal of Kunming Medical University 2025;46(7):65-73
Objective To investigate the expression of serum microRNA-29b(miR-29b),microRNA-199a(miR-199a),and microRNA-19a-3p(miR-19a-3p)in patients with acute cerebral infarction(ACI)and their relationship with disease severity and prognosis.Methods(1)Rats were randomly divided into a control group(Control group)and a model group(Model group),with 6 rats in each group.ACI was induced in the model group using the modified Longa suture method;the expression levels of miR-29b,miR-199a,miR-19a-3p in rat serum and brain tissue were detected and analyzed.(2)A total of 106 ACI patients diagnosed at Tangshan People's Hospital from June 2023 to June 2024 were enrolled as the study group,and 108 healthy individuals who underwent physical check-ups at the same hospital during the same period were chosen as the control group.According to the NIHSS evaluation results,the study group patients were assigned into mild(42 cases),moderate(34 cases),and severe(30 cases)groups.Based on the mRS evaluation results,the patients were assigned into good prognosis(68 cases)and poor prognosis(38 cases)groups.Real-time fluorescence quantitative PCR was applied to measure the expression levels of serum miR-29b,miR-199a,and miR-19a-3p.Pearson correlation analyzed the correlation between serum miR-29b,miR-199a,miR-19a-3p levels and NIHSS score and mRS score in ACI patients.The risk factors for poor prognosis in ACI patients were analyzed using multivariate logistic regression.ROC curves were used to analyze the predictive value of serum miR-29b,miR-199a,miR-19a-3p levels and NHISS scores in poor prognosis of ACI patients.Results(1)Compared with the Control group,the levels of miR-199a and miR-19a-3p in the serum and brain tissue of the Model group rats were significantly increased,while the level of miR-29b was significantly decreased(P<0.05);(2)Compared with the control group,as the severity of ACI patients gradually increased,the levels of serum miR-199a and miR-19a-3p unusually increased in the mild,moderate,and severe groups,while the level of miR-29b was significantly decreased(P<0.05).The NHISS score,miR-199a and miR-19a-3p levels in the poor prognosis group were significantly higher than those in the good prognosis group,while miR-29b was significantly lower than that in the good prognosis group(P<0.05).The levels of serum miR-199a and miR-19a-3p were positively correlated with NIHSS score;the level of miR-29b was negatively correlated with NIHSS score(P<0.05).Elevated serum miR-199a and miR-19a-3p levels and increased NHISS score were independent risk factors for poor prognosis in ACI patients,and elevated serum miR-29b levels were protective factors for poor prognosis in ACI patients(P<0.05).The combined prediction of poor prognosis in ACI patients using serum miR-29b,miR-199a,miR-19a-3p levels and NHISS scores yielded an ACI of 0.988,which was superior to individual predictions(Z=2.878,3.551,3.300,3.452,P<0.05).Conclusion The serum expression levels of miR-199a and miR-19a-3p were significantly up-regulated,while miR-29b levels significantly down-regulated,which were related to the disease severity and prognosis.The the combination of the three miRNAs had certain value in predicting the poor prognosis of patients.MiR-29b,miR-199a,and miR-19a-3p can be used as important predictors to evaluate the progression and prognosis of ACI patients.
7.Epidemiological characteristics of dengue fever in schools from Guangzhou in 2024
DAI Bofeng, LU Ying, ZHANG Wei, YIN Shanghui, ZHOU Jiayong, LIU Wenhui, LIU Yanhui
Chinese Journal of School Health 2025;46(12):1805-1808
Objective:
To analyze the epidemiological characteristics of dengue fever outbreaks in schools from Guangzhou in 2024, so as to provide a reference for formulating targeted prevention and control policies and measures.
Methods:
By using the National Infectious Disease Surveillance Information Reporting Management System to obtain information on dengue fever cases in Guangzhou from January 1st to December 31st, 2024. Descriptive data analysis was conducted on the temporal distribution, regional distribution, and school distribution of dengue fever outbreaks in schools. A mediation effect model was used to analyze the mediating effect of the time between onset and reporting between the type of school and the occurrence of recurrent cases.
Results:
In 2024,12.41% (385 cases) of dengue fever cases in Guangzhou involved schools, with 300 schools affected. Among these, 16 schools (5.33%) reported cluster outbreaks, and 24 schools (8.00%) reported secondary cases. The first dengue case at the school was reported at 26 July and the last case was reported at 4 December, the peak reporting period for cases was October 7 to November 3. The incidence of secondary cases in schools in central urban areas (5.19%) was lower than that in suburban schools ( 17.39 %), and the difference was statistically significant ( χ 2=9.15, P <0.01). The time from onset to reporting partially mediated the relationship between school type and the occurrence of recurrent cases ( β=0.23, P <0.05), accounting for 21.50% of the total effect.
Conclusions
Dengue fever is a key infectious disease facing schools in Guangzhou during summer and autumn. Surveillance of dengue fever outbreaks in schools should be strengthened during the peak season to reduce the risk of cluster outbreaks and the occurrence of secondary cases.
8.Epidemiological characteristics and related factors of multimorbidity of wasting and spinal curvature abnormalities among children and adolescents aged 6-18 years in Inner Mongolia Autonomous Region
Ziqi DONG ; Zhenting LU ; Xinli SONG ; Zhiying SONG ; Jieyu LIU ; Yi ZHANG ; Jianuo JIANG ; Ruolin WANG ; Wen YUAN ; Yang QIN ; Yi SONG ; Xiuhong ZHANG ; Tian YANG ; Yanhui DONG
Chinese Journal of Preventive Medicine 2025;59(2):151-159
Objective:To analyze the epidemiological characteristics of wasting, spinal curvature abnormalities and multimorbidity among children and adolescents aged 6-18 in Inner Mongolia and explore the related factors of these two health problems.Methods:In September 2022, a stratified random cluster sampling method was employed to select 188 635 children and adolescents aged 6-18 in Inner Mongolia for physical examinations and questionnaire surveys. Data on height, weight, as well as dietary behavior, physical activity, classroom environment, academic tasks, writing posture, and screen behavior were collected. The epidemiological characteristics of wasting, spinal curvature abnormalities and multimorbidity were analyzed. Additionally, a multivariate logistic regression model was used to analyze the factors associated with wasting, spinal curvature abnormalities and multimorbidity.Results:A total of 188 635 children and adolescents aged 6-18 years participated in this study, including 95 393 boys (50.6%) with an average age of (11.53±3.32) years. The detection rate of wasting was 3.79%, with a higher detection rate in boys (4.18%) than in girls (3.38%) ( P<0.001). The detection rate of spinal curvature abnormalities was 3.64%, with a higher detection rate in girls (4.04%) than in boys (3.25%) ( P<0.001). The detection rate of multimorbidity between wasting and spinal curvature abnormalities was 0.17%, and there was no statistically significant difference between genders ( P>0.05). The detection rates of wasting, spinal curvature abnormalities, and multimorbidity all increased with age ( P t<0.001). The multivariate logistic regression analysis showed that, after adjusting for gender, age, urban/rural status, and school grade, compared to children and adolescents who exercised ≥1 hour of moderate-to-vigorous physical activity (MVPA) for at least 5 days per week and had daily screen time <2 hours, those who exercised <5 days per week ( OR=1.28, 95% CI: 1.19-1.37) and had daily screen time ≥2 hours ( OR=1.11, 95% CI: 1.03-1.19) had a higher risk of wasting. Compared to children and adolescents who had ≥5 physical education (PE) classes per week, adjusted desk and chair height,<1 hour of after-school study/writing time, and whose parents or teachers rarely or never reminded them about posture, those with <5 PE classes per week ( OR=1.11, 95% CI: 1.02-1.21), unadjusted desk and chair height ( OR=1.08, 95% CI: 1.01-1.15),≥1 hour of after-school study/writing time ( OR=1.15, 95% CI: 1.07-1.24), frequent reminders from parents ( OR=1.16, 95% CI: 1.09-1.23), and frequent reminders from teachers ( OR=1.10, 95% CI: 1.04-1.16) had a higher risk of spinal curvature abnormalities. Compared to children and adolescents who did not consume sugary drinks daily, exercised ≥1 hour of MVPA for at least 5 days per week, and whose teachers rarely or never reminded them about posture, those who consumed sugary drinks daily ( OR=1.61, 95% CI: 1.00-2.46), exercised <5 days per week ( OR=1.33, 95% CI: 1.01-1.79), and had teachers who frequently reminded them about posture ( OR=1.35, 95% CI: 1.05-1.75) had a higher risk of multimorbidity between wasting and spinal curvature abnormalities. Conclusion:The detection rates of wasting, spinal curvature abnormalities and multimorbidity among children and adolescents aged 6-18 in Inner Mongolia are generally low, with an increasing trend observed with age. Both lifestyle and school environmental factors are associated with wasting, spinal curvature abnormalities and multimorbidity.
9.Mendelian randomization study on the causal relationship between type 2 diabetes and osteoporosis
Han YU ; Zongbao LI ; Fan HU ; Nan LI ; Yanhui LU ; Chunlin LI
Chinese Journal of Internal Medicine 2025;64(3):225-233
Objective:To analyze the causal relationship between type 2 diabetes and lumbar bone mineral density and spinal fractures and to further explore the impact of central obesity on the diabetic bone paradox.Methods:A Mendelian randomization (MR) study was implemented. Single nucleotide polymorphisms (SNPs) associated with type 2 diabetes were selected from the data of genome-wide association studies as instrumental variables, with lumbar bone density and spinal fractures as the outcome variables. The inverse variance weighting method, weighted median method, and MR-Egger regression were applied to identify a causal relationship between type 2 diabetes and osteoporosis at the genetic level. Additionally, to analyze the impact of central obesity in the diabetic bone paradox, the waist-to-hip ratio was introduced as a new exposure variable, with type 2 diabetes and lumbar bone density as outcome variables, and the MR method was applied again to uncover the influencing factors.Results:The screening criteria were based on the three main assumptions of MR. Finally, 62 SNPs for type 2 diabetes and 241 SNPs for waist-to-hip ratio were included in the MR analysis. Using inverse variance weighting as the primary analysis, the causal association effect analysis indicated a causal relationship between type 2 diabetes and increased lumbar bone density ( OR=1.047 6, P=0.007) and spinal fractures ( OR=1.000 9, P=0.014). A causal relationship between waist-to-hip ratio and type 2 diabetes ( OR=1.638 6, P<0.001) was identified, indicating that the waist-to-hip ratio was a risk factor for type 2 diabetes and may have a causal association with increased lumbar bone density ( OR=1.096 3, P=0.044). This suggests that the waist-to-hip ratio may indirectly affect the relationship between diabetes and osteoporosis. The MR-Egger intercept test showed no horizontal pleiotropy in this study. The leave-one-out analysis indicated that no single SNP had a significant impact on the overall results. Furthermore, the MR-pleiotropy residual sum and outlier (MR-PRESSO) test results did not detect any outlier SNPs. Conclusion:MR analysis identified a causal relationship between type 2 diabetes and increased lumbar bone density as well as a higher risk of spinal fractures, a paradox that may be related to central obesity.
10.Analysis of the gene mutation of patients with congenital plasminogen deficiency
Dandan YU ; Yanhui JIN ; Haixiao XIE ; Feng LIANG ; Yifan LU ; Fei XU ; Mingshan WANG ; Lihong YANG
Chinese Journal of Laboratory Medicine 2025;48(12):1581-1585
Objective:To analyze the gene mutations of 18 patients with plasminogen (PLG) deficiency and to explore the clinical manifestations caused by PLG gene mutations.Methods:This study belongs to observational study-descriptive study: case series.Clinical data from 18 patients with PLG deficiency admitted to the First Affiliated Hospital of Wenzhou Medical University from January 1st, 2021 to May 31st, 2025 were collected. The age ranged from 16 to 70 years old, with an average of 48 years old. Among them, there were 10 males and 8 females. Anticoagulant blood samples were taken before treatment to measure and analyze plasminogen activity (PLG:A), plasminogen antigen (PLG:Ag), protein C activity, protein S activity, fibrinogen, antithrombin activity, D-dimer, and fibrin (fibrinogen) degradation products. PCR direct sequencing was used to analyze the 19 exons and flanking sequences of the PLG gene in these patients, and reverse sequencing was employed to verify the suspected mutations.Results:For the 18 patients, cranial MRI showed fresh cerebral infarction lesions, and PLG:A levels ranged from 19% to 67%, while no other lab indicators showed significant abnormalities, all presenting with dysplasminogenemia. Genetic analysis revealed five types of PLG gene mutations: c.1858G>A (p.Ala620Thr) heterozygous mutation, c.1858G>A (p.Ala620Thr) homozygous mutation, c.398A>G (p.His133Arg) heterozygous mutation, c.2108G>A (p.Gly703Asp) heterozygous mutation, and c.1702G>A (p.Gly568Arg) heterozygous mutation. Among the above, the c.1858G>A heterozygous mutation was the most common, and c.398A>G and c.1702G>A were identified for the first time.Conclusion:Patients with plasminogen deficiency caused by PLG gene defects are prone to occur cerebral infarction events, which may be related to impaired fibrinolytic function due to PLG gene mutations.


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