1.Research on the screening efficiency of Thalassemia based on an automated evaluation software.
Jun HU ; Huan LIANG ; Limei DUAN ; Jianqiang GAO
Chinese Journal of Medical Genetics 2026;43(4):281-287
OBJECTIVE:
To explore the efficacy of a Thalassemia risk assessment software for the screening of thalassemia mutation carriers and distribution of thalassemia genotypes detected by screening.
METHODS:
A total of 6 040 individuals were evaluated at Leshan Maternal and Child Health Care Hospital between 2022 and 2024 using the commonly used clinical thalassemia risk assessment method and the thalassemia screening software, respectively, and the performance indicators of the two methods were compared and analyzed against the result of thalassemia gene testing. This study was approved by the Ethics Committee of our hospital (Ethics No.: LfyLL[2022]005).
RESULTS:
The high-risk rate by the thalassemia screening software was 11.19%, with a sensitivity of 95.12%, specificity of 93.28%, positive predictive value of 43.20%, negative predictive value of 99.72%, and the area under the ROC curve (AUC) was 0.942. The thalassemia gene detection rate of the high-risk samples screened was 4.83%. The high-risk screening rate of the conventional method was 2.50%, with a sensitivity of 51.22%, specificity of 93.28%, positive predictive value of 80.79%, negative predictive value of 97.40%, and the AUC was 0.754. The thalassemia gene detection rate of the high-risk samples was 2.02%.
CONCLUSION
The software can effectively detect thalassemia carriers and significantly reduce the missed detection compared with conventional method, thereby significantly improve the efficacy of screening.
Humans
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Thalassemia/diagnosis*
;
Software
;
Female
;
Genetic Testing/methods*
;
Male
;
Mutation
;
Adult
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Genotype
;
ROC Curve
;
Risk Assessment
2.Estimation of lifetime attributable risk of thyroid cancer from radiation in chest computed tomography examinations
Jiaohan NIU ; Jun YU ; Shengying YAO ; Zhijun GAO
Chinese Journal of Radiological Health 2026;35(1):62-66
Objective To estimate the lifetime attributable risk (LAR) of thyroid cancer due to radiation in individuals undergoing chest computed tomography (CT) examinations. Methods Scanning parameters were retrospectively collected from DICOM files of 660 individuals who underwent chest CT scans between 2022 and 2024. Individuals were stratified by age and sex. Size-specific dose estimates were calculated using a formula based on the volume CT dose index for each individual. The radiation doses received by the thyroid were estimated. The cancer risk prediction model from the US National Academy of Sciences report on the Biological Effects of Ionizing Radiation was referenced to predict the LAR of thyroid cancer. Results The LAR of thyroid cancer for males/females was 25.170/100 000 and 140.177/100 000 in the ≥ 0 and<5 years of age group, 21.779/100 000 and 102.498/100 000 in the ≥5 and <10 years of age group, 22.987/100 000 and 128.934/100 000 in the ≥10 and <15 years of age group, and 4.979/100 000 and 12.490/100 000 in the ≥15 years of age group. A Spearman correlation analysis showed that age was highly correlated with volume CT dose index, size-specific dose estimates, radiation dose received by the thyroid, and thyroid cancer LAR, with correlation coefficients of 0.887, 0.737, 0.737, and −0.41 (P<0.01), respectively. Sex was correlated with radiation dose received by the thyroid and thyroid cancer LAR, with correlation coefficients of 0.179 and 0.441 (P<0.01), respectively. Conclusion Chest CT scan leads to an increased LAR of thyroid cancer. Appropriate protective measures for the thyroid should be considered during chest CT scan to reduce the impact of radiation on the thyroid.
3.Spinal cord stimulation for spinal cord injury from 1999 to 2025: a bibliometric analysis
Yuanyuan QI ; Haifeng GAO ; Lina LIU ; Yujie XIE ; Jing XU ; Feng GAO ; Liang CHEN ; Degang YANG ; Jun LI
Chinese Journal of Rehabilitation Theory and Practice 2026;32(4):373-386
ObjectiveTo analyze the research hotspots and development trends in the field of spinal cord stimulation (SCS) for spinal cord injury (SCI). MethodsLiterature about SCS for SCI was retrieve from the Web of Science (WOS) Core Collection database, with a time range from January, 1999 to July, 2025. VOSviewer 1.6.20 and CiteSpace 6.4.R2 were used to analyze the annual publication volume, countries, authors, institutions, journals and keywords. ResultsA total of 636 literatures were included. From 1999 to 2025, the overall publication trend in this field showed an upward trajectory, with recent years fluctuating but tending to stabilize. The country with the most publications was the United States (429 papers), followed by Russia (98 papers) and China (70 papers). The institution with the highest number of publications was the University of California, Los Angeles (76 papers), the author with the most publications was V. Reggie Edgerton (70 papers), and the journal with the most publications was Journal of Clinical Medicine (31 papers). The most frequently cited study focused on exploring the combination of epidural spinal cord stimulation with task-specific training to restore motor function in patients with complete SCI. Keyword analysis showed that the research hotspots in this field were mainly focused on neuroregulation mechanisms, recovery of motor and autonomic nervous dysfunction, artificial intelligence, closed-loop stimulation and brain-computer interface technology innovations. In recent years, the research focus gradually shifted from basic mechanisms to personalized and precise multifunctional rehabilitation strategies. ConclusionThe field of SCS for SCI has undergone phases of basic mechanism exploration and clinical application expansion. Current research hotspots and future trends focus primarily on the development of new stimulation paradigms and combined innovative technologies.
4.Effect of piercing electroacupuncture on functional ankle instability
Haitao DONG ; Zhenyang CUI ; Qiang GAO ; Jun LI ; Jing LI
Chinese Journal of Rehabilitation Theory and Practice 2026;32(4):437-444
ObjectiveTo explore the effect of piercing electroacupuncture on ankle muscle strength, dynamic balance and subjective stability in patients with functional ankle instability (FAI). MethodsA total of 48 patients with FAI admitted to the Affiliated Hospital of Traditional Chinese Medicine, Shandong Second Medical University from April, 2024 to July, 2025 were enrolled and randomly divided into control group (n = 24) and experimental group (n = 24). The control group received multimodal functional training, while the experimental group received piercing electroacupuncture in addition, for six weeks. Relative peak torque of ankle plantarflexion, dorsiflexion, inversion and eversion were measured with isokinetic muscle strength testing system before and after treatment, while Y-Balance Test (YBT) and Cumberland Ankle Instability Tool (CAIT) were adopted for evaluation. ResultsOne case dropped out in each group. Relative peak torque of ankle plantarflexion, dorsiflexion, inversion and eversion at each angular velocity, the normalized distance in each direction and composite score of YBT, as well as the score of CAIT increased in both groups after treatment (|t| > 2.891, P < 0.01), while all the indicators were better in the experimental group than in the control group (|t| > 2.104, P < 0.05), except dorsiflexion muscle strength. ConclusionCombination of piercing electroacupuncture can further improve perimalleolar muscle strength, dynamic balance and subjective stability in patients with FAI.
5.Effect of compressive stress microenvironment on cytokines during fracture healing
Jiachen GUO ; Jun GAO ; Wenhao DAI ; Huayuan LIAO ; You JIANG ; Xi ZHANG
Chinese Journal of Tissue Engineering Research 2026;30(4):908-916
BACKGROUND:Fracture healing is a very complex physiological process,which is influenced by many factors.In recent years,the use of biomechanical factors in fracture healing has been a major focus in the field of orthopedics,and the mechanical stress environment around the fracture end has an important role in regulating fracture healing.Among them,the study of the mechanism of compressive mechanics on the cytokines of fracture ends is a hot spot for bone-related researchers.OBJECTIVE:To summarize the current status and recent advances in the study of the mechanism of action of compressive stress on cytokines in fracture healing in recent years.METHODS:A search with the keywords of"compressive stress,fracture healing,cytokine,bone morphogenetic protein,fibroblast growth factor,platelet-derived growth factor,vascular endothelial growth factor,interleukin,tumor necrosis factor-α"in Chinese and English was conducted in the CNKI,WanFang,PubMed,and Web of Science.Initially 506 articles were retrieved,and 94 eligible articles that met the criteria were screened and finally summarized.RESULTS AND CONCLUSION:Current studies have found that compressive stress has different effects on different cytokines during fracture healing,which can be achieved mainly by influencing cell signaling,gene expression regulation,and modulation of cell behavior.Among them,compressive stress can be linked to cytokines such as bone morphogenetic protein,fibroblast growth factor,platelet-derived growth factor,vascular endothelial growth factor,interleukin,and tumor necrosis factor-α.This process involves cell proliferation,differentiation and migration,inflammatory response,and changes in the environmental and nutritional conditions of the fracture end,which are key factors affecting fracture healing.The whole paper summarizes the complexity of cytokine action mechanism,the mechanism of compressive stress on its regulation needs to be further carried out in-depth research,and the problems and limitations in the research are considered and future prospects.
6.Effect of compressive stress microenvironment on cytokines during fracture healing
Jiachen GUO ; Jun GAO ; Wenhao DAI ; Huayuan LIAO ; You JIANG ; Xi ZHANG
Chinese Journal of Tissue Engineering Research 2026;30(4):908-916
BACKGROUND:Fracture healing is a very complex physiological process,which is influenced by many factors.In recent years,the use of biomechanical factors in fracture healing has been a major focus in the field of orthopedics,and the mechanical stress environment around the fracture end has an important role in regulating fracture healing.Among them,the study of the mechanism of compressive mechanics on the cytokines of fracture ends is a hot spot for bone-related researchers.OBJECTIVE:To summarize the current status and recent advances in the study of the mechanism of action of compressive stress on cytokines in fracture healing in recent years.METHODS:A search with the keywords of"compressive stress,fracture healing,cytokine,bone morphogenetic protein,fibroblast growth factor,platelet-derived growth factor,vascular endothelial growth factor,interleukin,tumor necrosis factor-α"in Chinese and English was conducted in the CNKI,WanFang,PubMed,and Web of Science.Initially 506 articles were retrieved,and 94 eligible articles that met the criteria were screened and finally summarized.RESULTS AND CONCLUSION:Current studies have found that compressive stress has different effects on different cytokines during fracture healing,which can be achieved mainly by influencing cell signaling,gene expression regulation,and modulation of cell behavior.Among them,compressive stress can be linked to cytokines such as bone morphogenetic protein,fibroblast growth factor,platelet-derived growth factor,vascular endothelial growth factor,interleukin,and tumor necrosis factor-α.This process involves cell proliferation,differentiation and migration,inflammatory response,and changes in the environmental and nutritional conditions of the fracture end,which are key factors affecting fracture healing.The whole paper summarizes the complexity of cytokine action mechanism,the mechanism of compressive stress on its regulation needs to be further carried out in-depth research,and the problems and limitations in the research are considered and future prospects.
7.Equity of human resource allocation in centers for disease control and prevention in China based on agglomeration degree
FAN Jun ; JIN Yuya ; GAO Weiwei
Journal of Preventive Medicine 2025;37(1):86-91
Objective:
To evaluate the equity of human resource allocation in centers for disease control and prevention (CDCs) in China, so as to provide insights into optimizing human resource and promoting the high-quality development of CDCs.
Methods:
The number, age, educational level and professional title of CDCs personnel from 2017 to 2021 were collected from China Health Statistics Yearbook and China Statistical Yearbook. General information of human resource in CDCs across different provinces (autonomous regions, municipalities) was described, and the equity of human resource allocation was assessed using agglomeration degree.
Results:
The number of personnel in CDCs was 190 730 in 2017, and it began to increase from 2020, reaching 209 550 in 2021, with an average annual growth rate of 2.47%. The staffing gap decreased from 52 534 to 37 655. The proportion of personnel aged 55 years and older increased from 10.74% to 16.69%, the proportion of personnel with a bachelor's degree or above increased from 36.50% to 47.80%, the proportion of personnel with senior professional titles increased from 9.75% to 13.31%, and the number of personnel per 10 000 permanent residents increased from 1.36 to 1.48. Agglomeration degree analysis indicated that the equity of human resource allocation in terms of both geography and population was relatively good among the CDCs of 12 provinces (autonomous regions, municipalities) including Beijing, Tianjin and Liaoning; the equity of human resource allocation was relatively good in terms of geography and was relatively poor in terms of population among 11 provinces (autonomous regions, municipalities) including Shanghai, Jiangsu and Zhejiang; the equity of human resource allocation was relatively poor in terms of geography and was relatively good in terms of population among the CDCs of 8 provinces (autonomous regions, municipalities) including Inner Mongolia, Heilongjiang and Hainan.
Conclusions
Although there was an increase in the number of personnel in CDCs from 2017 to 2021, the growth rate was low. There were differences in the equity of human resource allocation among provinces (autonomous regions, municipalities), with a relative shortage of human resource in CDCs in the east area.
8.Metabolic change characteristics before and after repeated-sprint training in hypoxia based on non-targeted metabolomics in elite athletes
Xi WANG ; Lin HUANG ; Jun QIU ; Binghong GAO ; Yanhong MA
Journal of Environmental and Occupational Medicine 2025;42(12):1480-1490
Background Repeated-sprint training in hypoxia (RSH) can improve athletic performance and reduce body fat in obese individuals. However, studies characterizing metabolic changes experienced by elite athletes before and after RSH are currently scarce in China. Objective To characterize the plasma metabolic profile alterations in elite athletes induced by a two-week RSH intervention using untargeted metabolomics, and to analyze the associations between differential metabolites and indices of blood lipids and body composition. Methods Blood samples from 11 elite athletes before and after 2 weeks of RSH were collected for metabolomics analysis and blood lipid analysis. Plasma metabolites were detected by liquid chromatographymass spectrometry (LC-MS) and gas chromatography-mass spectrometry (GC-MS) combined technology, and the differential metabolites before and after training were screened out by differential analysis. Key metabolic pathways were identified by Kyoto Encyclopedia of Gene and Genome Database (KEGG) enrichment analysis. Then, the correlations of blood lipid indexes and body composition indexes with differential metabolites before and after training were evaluated. Results Finally 20 differential metabolites were identified, among which 17 lipid metabolites were significantly up-regulated, and amino acids and their derivatives (1 type) and sugar derivatives (2 types) were significantly down-regulated. The results of KEGG enrichment analysis showed that the differential metabolites were mainly involved in three pathways closely related to RSH, namely hypoxia inducible factor 1-alpha (HIF-1) signaling pathway, cyclic adenosine monophosphate (cAMP) signaling pathway, and sphingolipid signaling pathway. The post-training analysis revealed significant increases in total cholesterol (P<0.05) and high-density lipoprotein cholesterol (HDL-C) (P<0.001), as well as a significant decrease in triglycerides (P<0.01). There were minor decreases in body weight, body fat, body fat percentage, fat mass index (FMI), and fat-free mass (FFM) (P>0.05). After training, total cholesterol was negatively correlated with phosphatidylinositol (16:0/22:4) and D-fructose, HDL-C was negatively correlated with D-fructose and β-D-glucuronic acid, while body fat, body fat percentage, and FMI showed positive correlations with multiple carnitine fatty acid derivatives. Conclusion The 2-week RSH promotes the decomposition of lipid metabolites, increases the utilization of fatty acids, and reduces the accumulation of carbohydrate metabolites in elite athletes, which has a positive effect on the health of blood lipid metabolism. It may also help elite athletes regulate body fat by promoting lipid metabolism. Further research is needed in the future to validate these findings.
9.Dual effects of branched-chain amino acid on differentiation of 3T3-L1 preadipocytes through Stat3 pathway
Xinghua Cai ; Jie Gao ; Yuanying Xu ; Huihui Zhang ; Rouzi Maireyanmu ; Wenjun Sha ; Jun Lu ; Tao Lei
Acta Universitatis Medicinalis Anhui 2025;60(3):494-501
Objective :
To investigate the effects of branched-chain amino acid(BCAA) on the differentiation of 3T3-L1 preadipocytes and its potential mechanism.
Methods :
3T3-L1 preadipocytes were divided into the Control, differentiation medium(DM), low-concentration BCAA, and high-concentration BCAA groups. A CCK-8 assay was utilized to evaluate pre-adipocyte survival under various BCAA concentrations. Oil-red O staining was used to observe the formation of lipid droplets in adipocytes. Intracellular triglyceride(TG) and total cholesterol(TC) were detected by enzymatic method. RT-qPCR and Western blot were used to detect the mRNA and protein expression of Stat3 and adipocyte differentiation-related genes.
Results :
CCK-8 results showed that the viability of 3T3-L1 cells was not affected when the BCAA concentration was ≤ 10 mmol/L. Compared with the DM group, the low-concentration BCAA groups(0.5 and 1.0 mmol/L) had significantly larger intracellular lipid droplets, increased number of lipid droplets, and elevated levels of the intracellular TC(0.88vs0.68 mmol/g; 0.83vs0.68 mmol/g,P<0.01) and TG(0.77vs0.40 mmol/g; 0.62vs0.40 mmol/g,P<0.01). Nevertheless, the cell differentiation in the high-concentration group(5.0 and 10.0 mmol/L) significantly decreased compared with that in the DM group. Further, levels of PPARγ, C/EBPα, Adiponectin, and FABP4 mRNA and protein expression significantly increased in the low-concentration group, but significantly decreased in the high-concentration group than that in the DM group(P<0.01). In addition, low concentrations of BCAA promoted stat3 phosphorylation, while high concentrations inhibited its phosphorylation(P<0.01).
Conclusion
BCAA have a dual role in regulating the differentiation of preadipocytes through Stat3, i.e. low concentrations of BCAA induce cell differentiation by promoting Stat3 phosphorylation; whereas high concentrations of BCAA inhibit Stat3 phosphorylation and cell differentiation.
10.Hernandezine induces autophagic cell death in hepatocellular carcinoma cells via the AMPK/mTOR signaling pathway
Jun WANG ; Gangfeng HU ; Weichen GAO ; Lubing WANG
Journal of Surgery Concepts & Practice 2025;30(2):138-145
Objective To investigate the autophagy activation effect of hernandezine (HER) on hepatocellular carcinoma (HCC) cells and its role in inducing autophagic cell death. Methods The inhibitory effects of HER on the proliferation of HCC cell lines Hep 3B and Huh-7 were assessed using CCK-8 assay. HCC cells were treated with HER at different concentrations and time points gradient. Western blot analysis was performed to evaluate the conversion of autophagy marker LC3 from type Ⅰ to type Ⅱ and the levels of SQSTM1/p62. Stable red fluorescent protein(RFP)-LC3-expressing cell lines were established through lentiviral infection, and the accumulation of RFP-LC3 puncta following HER treatment was observed under confocal microscope. Autophagosomes in HER-treated cells were visualized using transmission electron microscopy. The effects of autophagy inhibitors, bafilomycin A1 (BafA1) or hydroxychloroquine (HCQ), in combination with HER were investigated by analyzing cell death rates via flow cytometry. The phosphorylation levels of adenosine 5′-monophosphate(AMP)-activated protein kinase(AMPK) and mammalian target of rapamycin(mTOR) were assessed by Western blot.Results HER inhibited the proliferation of HCC cells Hep 3B and Huh-7, promoted the conversion of LC3-Ⅰ to LC3-Ⅱ, and activated autophagy in a dose- and time-dependent manner. Confocal microscopy and transmission electron microscopy revealed a significant increase in autophagic vesicles in HER-treated cells. HER-induced cell death was attenuated by the autophagy inhibitors BafA1 or HCQ. HER treatment increased AMPK phosphorylation levels while decreasing mTOR phosphorylation levels.Conclusions HER induces autophagy and promotes autophagic cell death in HCC cells via the AMPK/mTOR signaling pathway.


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