1.A Case of Multidisciplinary Treatment for Inflammatory Myofibroblastic Tumor Complicated by ANCA-Associated Vasculitis
Shaoying WANG ; Linyi PENG ; Ke ZHENG ; Zhiwei WANG ; Dachun ZHAO ; Xia ZHANG ; Lin ZHAO ; Wenhui WANG ; Weiqing WANG ; Zhenzhen ZHU ; Jin XU ; Min SHEN
JOURNAL OF RARE DISEASES 2026;5(1):43-51
A 51-year-old male presented with nasal obstruction, followed by progressive hearing loss and blurred vision. Imaging identified space-occupying lesions in the paranasal sinuses, orbits, and paraspinal regions, while laboratory tests confirmed positive anti-proteinase 3 anti-neutrophil cytoplasmic antibody(PR3- ANCA) immunoglobulin G (IgG)and markedly elevated serum IgG4. Despite treatment with corticosteroids, immunosuppressants, and radiotherapy, the patient exhibited steroid dependency with relentless disease progression. Following multidisciplinary consultation, a diagnosis of inflammatory myofibroblastic tumor (IMT) coexisting with ANCA- associated vasculitis (AAV) was favored, though IgG4-related disease remained a critical differential. Ultimately, profound immunosuppression precipitated a severe herpesvirus infection, leading to disseminated intravascular coagulation and multiple organ dysfunction syndrome. This case underscores the rarity and diagnostic complexity of concurrent IMT and AAV, highlights the therapeutic dilemma of balancing primary disease control against fatal opportunistic infections, and emphasizes the critical role of multidisciplinary collaboration in the diagnosis and treatment of complex diseases.
2.Molecular mechanism study of fetal nasal bone aplasia due to a frameshift variant of ARSL gene.
Yuanzhen ZHU ; Ke WU ; Dandan WU
Chinese Journal of Medical Genetics 2026;43(2):102-110
OBJECTIVE:
To analyze the clinical phenotype and pathogenic mechanism of the ARSL gene variant in a fetus with nasal bone aplasia.
METHODS:
A 34-year-old pregnant woman who attended Quzhou Maternal and Child Health Care Hospital on January 3, 2023 was selected as the study subject. Whole exome sequencing (WES) was performed on the fetus. Bioinformatics analysis was carried out to identify and prioritize candidate gene variants, followed by Sanger sequencing for familial validation. A mutant plasmid expression vector was constructed and subsequently transfected into HEK293T cells to preliminarily investigate the pathogenetic mechanism of the identified variant. Additionally, a comprehensive review of literature was conducted to systematically summarize the associated clinical phenotypes. This study was approved by the Medical Ethics Committee of Quzhou Maternal and Child Health Care Hospital (Ethics No.: KY-2023-11).
RESULTS:
WES revealed that the fetus harbored a c.827del (p.L276Rfs*48) variant of the ARSL gene, for which its mother was heterozygous. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was classified as pathogenic(PVS1+PM2_Supporting). In vitro cellular function studies demonstrated that this variant can result in a substantial decrease in the expression of mutant mRNA, thereby preventing the production of normal ARSL protein. Clinical phenotypes resulting from ARSL gene variants exhibited considerable diversity, with nasal hypoplasia being the most common manifestation.
CONCLUSION
The c.827del (p.L276Rfs*48) variant of the ARSL gene can lead to degradation of mRNA via the nonsense-mediated mRNA decay pathway, resulting in reduced levels of ARSL protein. The pathogenetic mechanism underlying the ARSL gene variant may be associated with its haploinsufficiency effect.
Humans
;
Female
;
Pregnancy
;
Adult
;
Frameshift Mutation
;
HEK293 Cells
;
Nasal Bone/abnormalities*
;
Fetus/abnormalities*
;
Exome Sequencing
3.B7-H3 molecule inhibits apoptosis of non-small cell lung cancer cells via the SIRT1/p53 signaling pathway
Lin ZHENG ; Jianxin ZHONG ; Ke NIU ; Qing XU ; Huijuan LING ; Yayu ZHU ; Bing CHEN ; Liwen CHEN
Acta Universitatis Medicinalis Anhui 2026;61(2):232-238
ObjectiveTo explore the role of the histone deacetylase Sirtuin-1 (SIRT1)/p53 signaling pathway in promoting apoptosis of non-small cell lung cancer cells (NSCLC) induced by the co-stimulatory molecule B7 homolog 3 (B7-H3). MethodsThe GEPIA 2 platform was used for survival analysis of NSCLC patients based on B7⁃H3 gene expression levels. The Gene Enrichment Analysis (GSEA) method was used to analyze the enrichment characteristics of B7⁃H3 molecules in the gene set of cell apoptosis. In the non-small cell lung cancer A549 cell line, B7⁃H3 was knocked down, and the protein expression levels of SIRT1 and p53 were detected by Western blot. B7⁃H3 was overexpressed in A549 cells and the apoptosis rate was analyzed by flow cytometry after Annexin V/PI double staining. Overexpression of B7⁃H3 and knockdown of SIRT1 were performed in A549 cell line. The expression levels of p53 and apoptosis-related proteins B-cell lymphoma/leukemia-2 (Bcl-2) and Bcl-2-associated X protein (Bax) were detected respectively by Western blot. Cell apoptosis rate was analyzed by flow cytometry after Annexin V/PI double staining. ResultsThe overall survival of the B7-H3 high-expression group was significantly lower than that of the low-expression group (P<0.01). B7-H3 was significantly enriched in the cell apoptosis signaling pathway and the p53 signaling pathway (P<0.05). Compared with the control group, the expression of SIRT1 was significantly downregulated, and p53 was significantly upregulated in the B7⁃H3 knockdown group (both P<0.001). Overexpression of B7-H3 significantly up-regulated SIRT1 protein expression (P<0.05), down-regulated p53 expression (P<0.01), and markedly increased the Bcl-2/Bax ratio of apoptosis-related proteins (P<0.001). The results of Annexin V/PI double staining showed that the apoptosis rate of A549 cells with overexpressed B7⁃H3 decreased (the apoptosis rate of the control group was 26.72%±4.13%, while that of the B7⁃H3 overexpression group was 13.87%±0.82%; P<0.01). In B7-H3-overexpressing cell lines, SIRT1 knockdown significantly reversed apoptosis (P<0.05), up-regulated p53 protein expression (P<0.001), and markedly reduced the Bcl-2/Bax ratio (P<0.001). ConclusionB7-H3 molecule inhibits the apoptosis of non-small cell lung cancer cells via the SIRT1/p53 signaling pathway.
4.Factors affecting benefit finding among young and middle-aged patients with type 2 diabetes mellitus
WU Chenghui ; PENG Yanhong ; ZHANG Ke ; ZHU Weiye ; DENG Liang ; TAN Lingling ; QU Dandan ; MI Qiuxiang
Journal of Preventive Medicine 2026;38(1):31-35
Objective:
To investigate the current status of benefit finding among young and middle-aged patients with type 2 diabetes mellitus (T2DM) and analyze its influencing factors, so as to provide a reference for improving the level of benefit finding in this population.
Methods:
From November 2022 to May 2023, young and middle-aged patients with T2DM aged 18-59 years hospitalized in the endocrinology departments of 2 tertiary hospitals in Hengyang City, Hunan Province were selected as survey subjects by a convenience sampling method. Basic demographic information was collected using a general questionnaire survey. Benefit finding, resourcefulness, and stigma were evaluated using the Benefit Finding Scale, the Chinese Version of the Resourcefulness Scale, and the Type 2 Diabetes Stigma Assessment Scale, respectively. A multiple linear regression model was used to analyze the influencing factors of benefit finding among young and middle-aged patients with T2DM.
Results:
A total of 305 young and middle-aged patients with T2DM were investigated, including 222 males (72.79%) and 83 females (27.21%). There were 231 cases aged 45-59 years, accounting for 75.74%. The scores for benefit finding, resourcefulness, and stigma were (42.86±6.06), (75.12±11.30), and (41.20±10.10), respectively. Multiple linear regression analysis showed that young and middle-aged patients with T2DM who were male (β′=0.088), aged 18-<45 years (β′=0.083), absence of diabetes complications (β′=0.124), and had higher resourcefulness scores (β′=0.679) had higher levels of benefit finding, while patients with higher stigma scores (β′=-0.097) had lower levels of benefit finding.
Conclusion
The level of benefit finding among young and middle-aged patients with T2DM was moderate, and was related to gender, age, diabetes complications, resourcefulness, and stigma.
5.Correlation between extraocular muscle thickness and clinical activity score in thyroid-associated ophthalmopathy
Laijuan PENG ; Xu XU ; Zhongxu SUN ; Peng ZHU ; Ke MENG ; Tao ZHANG
International Eye Science 2026;26(7):1281-1286
AIM: To analysis the correlation between extraocular muscle thickness measured by quantitative CT analysis of orbital structures and clinical activity score(CAS)of thyroid-associated ophthalmopathy(TAO).METHODS:This was a retrospective analysis, selecting clinical data of TAO patients admitted to the hospital from October 2020 to February 2025. Healthy individuals were chosen from hospital's physical examination as the control group. All participants underwent CT examination, the superior rectus muscle, inferior rectus muscle, medial rectus muscle, lateral rectus muscle, orbital area, protrusion degree, and total cross-sectional area of extraocular muscles/total orbital area ratio(OM/TOA)from the two groups of participants were compared. CAS was used to evaluate TAO patients, and the correlation between CAS score and quantitative analysis indicators of CT orbital structure was analyzed. Quantitative analysis indicators for CT orbital structure in TAO patients at different stages of activity were compared, and the predictive value of these indicators for TAO patients at different activity stages was investigated.RESULTS:A total of 77 TAO patients were enrolled in this study, including 38 males and 39 females, with ages ranging from 28 to 70 y(mean age 49.5±6.9 y). There were 77 cases in the control group, including 40 males and 37 females, with ages ranging from 26 to 70 y(mean age 49.0±7.3 y). There was no significant difference in gender and age between the two groups(both P>0.05). The quantitative analysis of left eye, right eye, and binocular CT orbital structure in TAO group patients showed significantly higher indicators than the control group(all P<0.001), and the CAS score of TAO group was 3.94±1.51 points. The CAS score was positively correlated with various indicators of CT orbital structure quantitative analysis(all P<0.05). According to the CAS score results, 14 cases(28 eyes)of TAO patients with a CAS score<3 were classified as inactive phase, including 8 males and 6 females, with an average age of 43.79±9.58 y. A total of 63 cases(126 eyes)with a CAS score of ≥3 was classified as active phase, including 30 males and 33 females, with an average age of 50.78±5.47 y. There was no significant difference in gender among TAO patients with different active phases(P=0.519), but there was a significant difference in age(P<0.001). The quantitative indicators of CT orbital structure in inactive patients were significantly lower than those in active patients(P<0.05). Finally, the superior rectus muscle, age, and degree of protrusion were selected to be included in the Logistic regression model. The analysis results showed that there was a correlation between the superior rectus muscle index, degree of protrusion and TAO activity phase(P<0.05), while age, and TAO activity phase showed no significant correlation(P>0.05). The ROC curve analysis results showed that the area under the curve(AUC)was 0.863, the standard error was 0.063, P<0.001, and the 95% confidence interval(95% CI)of AUC was 0.740-0.985. The sensitivity of the model prediction was 73.0%, the specificity was 92.9%, and the Youden index was 0.659. The prediction accuracy was 97.9%, the recall rate was 73.0%, and the F1 value was 0.836. The predicted optimal critical value was 0.857. The predicted probability was 0.74.CONCLUSION:Quantitative CT analysis of orbital structures can be used to assess disease severity in TAO patients.
6.Epidemiological characteristics of influenza-like illness and detection of influenza viruses in Xiaogan City, Hubei Province, 2020‒2024
Shanghai Journal of Preventive Medicine 2026;38(7):522-526
ObjectiveTo analyze the epidemiological characteristics of influenza-like illness (ILI) cases and the distribution patterns of influenza virus types in Xiaogan City from 2020 to 2024, and to provide a scientific basis for local influenza prevention and control. MethodsData on ILI surveillance reported by two national sentinel hospitals in Xiaogan City and influenza virus detection data reported by the network laboratory of Xiaogan Center for Disease Control and Prevention during 2020‒2024 were collected. All data were stratified and statistically analyzed by time, age and gender. Inter-group differences were compared using the chi-square (χ²) test, and statistical analyses were performed with SPSS 27.0 software. ResultsA total of 781 528 outpatient and emergency cases were reported by two sentinel hospitals in Xiaogan City from 2020 to 2024, among which 34 078 were ILI cases, with an ILI proportion (ILI%) of 4.36%. The highest proportion of ILI cases was observed in the 0‒<5 years age group, accounting for 28.62% (9 754/34 078). A total of 11 000 surveillance samples were tested, and 1 515 were positive for influenza virus, with an overall positive rate of 13.77%. Among the positive samples, 724 (47.79%) were influenza A (H3N2) subtype, 232 (15.31%) were influenza A (H1N1) subtype, 554 (36.57%) were influenza B (Victoria lineage), and 5 (0.33%) were mixed infections. A statistically significant difference was found in the seasonal distribution of influenza virus positivity rate (χ²=9 120.63, P<0.001). Epidemic peaks mainly occurred in winter and spring, with positivity rates ranging from 42.22% to 76.62%, while summer epidemic peaks were observed only in 2021 and 2022 (positivity rate was 21.48% and 43.03%, respectively). A statistically significant difference was also observed in influenza virus positivity rate among different age groups (χ²=846.61, P<0.001), with the highest influenza positive rate in the 5‒<15 years age group. No statistically significant difference was found in gender distribution (χ²=2.43, P=0.650). ConclusionThe influenza epidemic season in Xiaogan City is mainly in winter and spring, with occasional summer peaks. Prevention and control efforts should focus on children and adolescents aged 5 to <15 years, and targeted measures should be adopted in key settings such as schools. It is necessary to continuously strengthen influenza surveillance to provide a scientific basis for formulating prevention and control strategies.
7.Deep learning for accurate lung artery segmentation with shape-position priors
Chao GUO ; Xuehan GAO ; Qidi HU ; Jian LI ; Haixing ZHU ; Ke ZHAO ; Weipeng LIU ; Shanqing LI
Chinese Journal of Clinical Thoracic and Cardiovascular Surgery 2025;32(03):332-338
Objective To propose a lung artery segmentation method that integrates shape and position prior knowledge, aiming to solve the issues of inaccurate segmentation caused by the high similarity and small size differences between the lung arteries and surrounding tissues in CT images. Methods Based on the three-dimensional U-Net network architecture and relying on the PARSE 2022 database image data, shape and position prior knowledge was introduced to design feature extraction and fusion strategies to enhance the ability of lung artery segmentation. The data of the patients were divided into three groups: a training set, a validation set, and a test set. The performance metrics for evaluating the model included Dice Similarity Coefficient (DSC), sensitivity, accuracy, and Hausdorff distance (HD95). Results The study included lung artery imaging data from 203 patients, including 100 patients in the training set, 30 patients in the validation set, and 73 patients in the test set. Through the backbone network, a rough segmentation of the lung arteries was performed to obtain a complete vascular structure; the branch network integrating shape and position information was used to extract features of small pulmonary arteries, reducing interference from the pulmonary artery trunk and left and right pulmonary arteries. Experimental results showed that the segmentation model based on shape and position prior knowledge had a higher DSC (82.81%±3.20% vs. 80.47%±3.17% vs. 80.36%±3.43%), sensitivity (85.30%±8.04% vs. 80.95%±6.89% vs. 82.82%±7.29%), and accuracy (81.63%±7.53% vs. 81.19%±8.35% vs. 79.36%±8.98%) compared to traditional three-dimensional U-Net and V-Net methods. HD95 could reach (9.52±4.29) mm, which was 6.05 mm shorter than traditional methods, showing excellent performance in segmentation boundaries. Conclusion The lung artery segmentation method based on shape and position prior knowledge can achieve precise segmentation of lung artery vessels and has potential application value in tasks such as bronchoscopy or percutaneous puncture surgery navigation.
8.A new glycoside from Alstonia mairei Lévl.
Li-ke WANG ; Bing-yan LI ; Zhen-zhu ZHAO ; Yan-zhi WANG ; Xiao-kun LI ; Wei-sheng FENG ; Ying-ying SI
Acta Pharmaceutica Sinica 2025;60(1):191-195
Nine compounds were isolated and purified from 90% ethanol extract of
9.Influencing factors for meropenem-related liver injury and their predictive value
Yan HE ; Hongqin KE ; Hongliang LI ; Jianyong ZHU ; Lijun ZHAO ; Huibin YU
Journal of Clinical Hepatology 2025;41(3):506-512
ObjectiveTo analyze the factors influencing meropenem-related liver injury (MRLI) and to explore their clinical predictive value. MethodsA retrospective case-control study was conducted, and the Chinese Hospital Pharmacovigilance System (CHPS) was used to establish a retrieval scheme. A total of 1 625 hospitalized cases using meropenem from January 2018 to December 2022 were collected. Patients were divided into case group (n=62) and control group (n=1 563) based on the presence or absence of liver injury. Clinical data and laboratory indicators from both groups were collected and analyzed. The t-test was used for comparison of normally distributed continuous data between the two groups, while the Mann-Whitney U test was used for comparison of continuous data not conforming to a normal distribution. The chi-square test was used for comparison of categorical data between the two groups. A multivariate Logistic regression analysis was performed to identify the influencing factors for MRLI. A Logistic regression equation was established, and the predictive value of these factors was assessed using the receiver operating characteristic (ROC) curve. ResultsThe results of univariate analysis indicated that the rates of male patients, hypoproteinemia, shock, intensive care unit (ICU) admissions, sepsis, and liver, gallbladder, and cardiovascular diseases, the levels of alanine aminotransferase (ALT), alkaline phosphatase (ALP), gamma-glutamyl transpeptidase (GGT), aspartate aminotransferase (AST), creatinine (CREA), and procalcitonin (PCT), and the number of hospitalization days were significantly higher in the case group than in the control group (P<0.05), and that the platelet levels in the case group were significantly lower than those in the control group (P<0.05). The multivariate Logistic regression analysis showed that male sex (odds ratio [OR]=2.080, 95% confidence interval [CI]: 1.050 — 4.123, P=0.036), admission to the ICU (OR=8.207, 95%CI: 4.094 — 16.453, P<0.001), comorbidity with gallbladder disease (OR=8.240, 95%CI: 3.605 — 18.832, P<0.001), ALP (OR=1.012, 95%CI: 1.004 — 1.019, P=0.004), GGT (OR=1.010, 95%CI: 1.005 — 1.015, P<0.001), and PLT (OR=0.997, 95%CI: 0.994 — 0.999, P=0.020) were the influential factors for MRLI. The areas under the ROC curve of ALP, GGT, and PLT were 0.589, 0.637, and 0.595, respectively, and the AUC of them combined was 0.837. ConclusionMale sex, ICU admission, comorbidity with gallbladder disease, increased ALP, increased GGT, and decreased PLT were influencing factors for MRLI, and a combination of factors has a better predictive value for the occurrence of MRLI.
10.Effects of long working hours, shift rotation, and job stress on work-related musculoskeletal disorders among key occupational populations in Yunnan Province
Jun QI ; Jingjing CAO ; Meifeng ZHOU ; Ke ZHU ; Xingren LIU ; Linbo FAN
Journal of Environmental and Occupational Medicine 2025;42(3):302-309
Background The adverse effects of long working hours, shift rotation, and job stress on the physical and mental health of occupational populations require urgent attention. Objective To investigate and compare the positive rates of WMSDs between different industries, analyze the exposure status of long working hours, shift rotation, and job stress among key occupational groups, and evaluate the impacts of these factors on WMSDs in the manufacturing and service industries. Methods The study subjects were derived from key occupational populations in Yunnan Province, recruited by the Chinese National Occupational Health Literacy Monitoring Survey in 2022. A cross-sectional design was used for this survey. The key occupational populations were recruited from the secondary industry (manufacturing industry, metal mining and beneficiation industry, and non-metal mining and beneficiation industry) by stratified random sampling and from the tertiary industry (medical and healthcare industry, education industry, environmental sanitation industry, transportation industry, and express/takeaway delivery industry) by proportional probability sampling, and


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