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Table of Content

    05 December 2025, Volume 45 Issue 12
    Original Articles
    Decreased expression of SFXNs in renal tissues of mouse models of acute and chronic kidney disease
    GAO Li, WANG Siyi, ZHANG Minjing, ZHAO Lin, XU Zheming, ZHANG Gensheng, YAN Jieping
    2025, 45(12):  1541-1547.  doi:10.16352/j.issn.1001-6325.2025.12.1541
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    Objective To investigate the expression changes of iron autophagy-mitochondrial ferric ion transport protein families (SFXNs) in acute kidney injury (AKI) and chronic kidney disease (CKD) mouse models induced by cisplatin (Cis) and ischemia reperfusion (IR). Methods C57BL/6 mice were randomly divided into control group (control), Cis-AKI group, Cis-CKD group, sham-operated group (sham), IR-AKI group, and IR-CKD group. Serum and kidney tissue samples were collected from mice. Serum creatinine (Cr) and blood urea nitrogen (BUN) levels were detected. Pathological changes in renal tissues were observed by HE staining. Western blot was used to detect the expression of renal SFXNs and kidney injury related proteins. Results Compared with the control or sham group, the levels of BUN and Cr in the serum of the model group were significantly increased(P<0.05), the renal tissue showed significant pathological damage, with the kidney injury molecule-1(KIM-1), neutrophil gelatinase-associated lipocalin(NGAL), and pro-apoptotic protein Bax significantly upregulated(P<0.05), while the anti-apoptotic protein Bcl-2 was significantly downregulated (P<0.05). Compared to the control or sham group, the Cis-AKI group showed a significant downregulation of SFXN4 (P<0.05); The SFXN4 and SFXN5 subtypes were significantly downregulated in the IR-AKI group and Cis-CKD group (P<0.05); All five subtypes of SFXN in the IR-CKD group were significantly downregulated (P<0.05). Conclusions Cis or IR induces renal tissue damage and tubular mitochondrial injury in mice and affects the expression of SFXN family proteins, suggesting their potential role in renal injury of animal models.
    Silencing KRT17 inhibits proliferation of human esophageal squamous cell line KYSE-150
    ZHANG Hui, GAN Shibao, LI Hui, ZHOU Jiaxun, ZHAO Mengqi
    2025, 45(12):  1548-1556.  doi:10.16352/j.issn.1001-6325.2025.12.1548
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    Objective To explore the effect and mechanism of keratin 17 (KRT17) on proliferation of human esophageal squamous cell line KYSE-150. Methods The correlation of KRT17 expression with the disease stage and survival of patients with esophageal squamous cell carcinoma was analyzed by GEPIA2 website. Human esophageal squamous cell line KYSE-150 was divided into control group,si-NC group,si-KRT17 group and activator group. Small interfering RNA of si-NC and si-KRT17 were transfected into cells of si-NC group and si-KRT17 group,respectively. Cells in the activator group were transfected with si-KRT17 and treated with 740 Y-P(PI3K/AKT/mTOR pathway activator) with a final concentration of 30 μmol/L in the medium. The cell proliferation was detected by CCK-8 assay. The clonal formation was detected by clonal formation experiment. The apoptosis was detected by TUNEL staining. The cell cycle was detected by flow cytometry. The cell migration and invasion were detected by Transwell assay. The contents of glucose, lactic acid and pyruvate in cell supernatant were detected by commercially available kits. The expression of KRT17 mRNA was detected by qRT-PCR. And the expression of KRT17,GLUT1,PDK1 and LDHA,p-PI3K,PI3K,p-AKT,AKT,p-mTOR and mTOR protein were detected by Western blot. Results The expression level of KRT17 in esophageal squamous cell carcinoma tissues was significantly higher than that in normal tissues(P<0.05). There was a statistically significant correlation between the expression level of KRT17 and the stage of esophageal squamous cell carcinoma (P<0.05). The survival prognosis of patients with low KRT17 expression was better than that of patients with high KRT17 expression (P<0.05). Compared with control group or si-NC group,the mRNA and protein expression of KRT17 in si-KRT17 group were decreased (P<0.05),and the cell proliferation activity,number of clone formation,migration and invasion cells were decreased (P<0.05). And the lactic acid content,protein expression levels of GLUT1,PDK1 and LDHA were decreased (P<0.05),values of p-PI3K/PI3K,p-Akt/AKT and p-mTOR/mTOR were decreased (P<0.05). The proportion of cells in G0/G1 phase,TUNEL positive rate,and contents of glucose and pyruvate were increased(P<0.05). Compared with si-KRT17 group,the mRNA and protein expression levels of KRT17 in activator group were increased (P<0.05),and the cell proliferation activity,number of clone formation,migration and invasion cells were increased (P<0.05). And the lactic acid content,protein expression levels of GLUT1,PDK1 and LDHA were increased (P<0.05),the values of p-PI3K/PI3K,p-Akt/AKT and p-mTOR/mTOR were increased (P<0.05). The proportion of cells in G0/G1 phase,TUNEL positive rate,and contents of glucose and pyruvate were decreased (P<0.05). Conclusions KRT17 is highly expressed in esophageal squamous cell carcinoma tissues and cells. Silencing KRT17 inhibits proliferation,migration and invasion of human esophageal squamous cell line KYSE-150,and promotes apoptosis and cell cycle arrest.
    Exosomes derived from bone marrow mesenchymal stem cells alleviate hypoxia/reoxygenation-induced cardiomyocyte injury
    WEN Wen, LIU Chenxi, CHEN Shuangjing, LU Xiaojiong, JIN Zhitao, ZHANG Zheng
    2025, 45(12):  1557-1564.  doi:10.16352/j.issn.1001-6325.2025.12.1557
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    Objective To explore the effects and mechanisms of bone marrow mesenchymal stem cell(BMMSC)-derived exosomes (BMMSC-Exo) on hypoxia/reoxygenation (H/R)-induced injury in rat cardiomyocyte cell line (H9c2). Methods BMMSC-Exosomes were isolated by ultracentrifugation. The cells were divided into three groups: control,H/R,and H/R+BMMSC-Exo (H/R+Exo). A hypoxia/reoxygenation (H/R) injury model was established by exposing cells to 12 hours of hypoxia followed by 6 hours of reoxygenation. Flow cytometry was used to detect cell apoptosis,DHE staining was used to assess cellular ROS levels,JC-1 immunofluorescence staining was used to evaluate mitochondrial membrane potential,and Western blot was used to detect mitochondrial autophagy-related proteins. Results BMMSC-Exo treatment significantly alleviated oxidative stress,restored mitochondrial membrane potential,reduced mitochondrial autophagy levels,and effectively decreased cardiomyocyte apoptosis. Conclusions Bone marrow mesenchymal stem cell-derived exosomes alleviate H/R-induced cardiomyocyte injury.
    Effect of miR-132-3p on epithelial-mesenchymal transition of trophoblast cells by targeting the SIRT1/NF-κB pathway
    GUO Shuhuan, GAO Yali, CHEN Jingge
    2025, 45(12):  1565-1571.  doi:10.16352/j.issn.1001-6325.2025.12.1565
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    Objective To investigate the effect of miR-132-3p on epithelial-mesenchymal transition (EMT) of trophoblast cells through targeted regulation of the SIRT1/NF-κB pathway. Methods Placental tissues from 37 preeclampsia (PE) patients who underwent cesarean section in Zhengzhou Women & Infants Hospital and 37 normal pregnant women who underwent cesarean section were collected as the research group and control group, respectively. RT-qPCR was performed to detect the expression of miR-132-3p and SIRT1 in tissues. During the logarithmic proliferation phase, HTR-8/SVneo cells were grouped into inhibitor negative group, miR-132-3p inhibitor group, mimic negative group, miR-132-3p overexpression group, miR-132-3p inhibitor+interference negative group, and miR-132-3p inhibitor+interference SIRT1 group, with untransfected HTR-8/SVneo cells as the blank group. CCK-8, Transwell assay, scratch assay, and RT-qPCR were used to detect the proliferation, invasion, migration, and changes in miR-132-3p and SIRT1 mRNA expression of HTR-8/SVneo cells. Western blot was used to detect the expression levels of EMT related proteins and SIRT1, NF-κB proteins. Dual luciferase was used to validate the targeting relationship between miR-132-3p and SIRT1. Results The level of miR-132-3p in the research group was significantly higher than that in the control group, while the SIRT1 mRNA was lower (P<0.05). The level of miR-132-3p, E-cadherin, p-NF-κBp65/NF-κBp65 in the miR-132-3p inhibitor group was lower than those in the inhibitor negative group and blank group. The proliferation rate, invasion cell number, migration rate, level of vimentin, N-cadherin, and SIRT1 were all higher (P<0.05). The miR-132-3p, E-cadherin, p-NF-κBp65/NF-κBp65 in the miR-132-3p overexpression group were higher than those in the mimic negative group, the proliferation rate, invasion number, migration rate, vimentin, N-cadherin, and SIRT1 were lower (P<0.05). The level of E-cadherin and p-NF-κBp65/NF-κBp65 in the miR-132-3p inhibitor+interference SIRT1 group was higher than those in the miR-132-3p inhibitor+interference negative group (P<0.05), the proliferation rate, invasion number, migration rate, vimentin, N-cadherin, and SIRT1 expression were lower (P<0.05). MiR-132-3p targeted regulation of SIRT1 expression (P<0.05). Conclusions Inhibition of miR-132-3p promotes the EMT, proliferation, invasion, and migration of trophoblast cells by targeting and activating the SIRT1/NF-κB pathway.
    Elevated expression of miR-423-5p in the plasma of patients with ischemic stroke
    LI Haipeng, LIU Yifan, LI Shan, CHEN Daohui, LEI Jinglin, HU Zheng
    2025, 45(12):  1572-1579.  doi:10.16352/j.issn.1001-6325.2025.12.1572
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    Objective To explore the clinical significance of miR-423-5p in ischemic stroke and its effects on SH-SY5Y cell apoptosis along with the underlying mechanisms. Methods Plasma samples were collected from three stroke-prone patients who subsequently developed acute ischemic stroke (AIS) within 24 hours. High-throughput sequencing was used to identify miR-423-5p as a key target. Venous blood samples were collected from 46 AIS patients within 24 hours of onset and from 46 matched control cases. RT-qPCR was performed to measure the plasma expression of miR-423-5p in both groups. The diagnostic value of miR-423-5p for AIS was evaluated using receiver operating characteristic (ROC) curve. After overexpression and knockdown of miR-423-5p in SH-SY5Y cells, flow cytometry was performed to detect apoptosis in each group to analyze the potential relationship between miR-423-5p and SH-SY5Y cell apoptosis. Western blot was used to measure changes in the expression level of the apoptotic protein cleaved caspase-3 and the anti-apoptotic proteins Bcl-2 and Bcl-xL. Results The expression of miR-423-5p in 3 AIS patients showed significant difference before and after onset. Plasma miR-423-5p expression was significantly elevated in AIS patients versus controls (P<0.001). ROC analysis indicated its strong diagnostic potential for AIS. Overexpression of miR-423-5p increased the apoptosis rate and cleaved caspase-3 expression of SH-SY5Y cells after OGD/R, and decreased the expression of Bcl-2 and Bcl-xL, while knocking down miR-423-5p had the opposite effect. Conclusions The expression of miR-423-5p is upregulated in the plasma of patients with ischemic stroke compared to healthy controls. Furthermore, miR-423-5p promotes OGD/R-induced apoptosis in SH-SY5Y cells by increasing the level of cleaved caspase-3 and suppressing the expression of Bcl-2 and Bcl-xL.
    miR-141-3p down-regulating lysophosphatidic acid receptor3 inhibits proliferation, migration and epithelial-mesenchymal transition of brain glioma cells
    LI Wenhui, REN Honggang, GUO Jian, SONG Yang, FENG Fuqiang
    2025, 45(12):  1580-1587.  doi:10.16352/j.issn.1001-6325.2025.12.1580
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    Objective To investigate the impacts of miR-141-3p on the proliferation, migration and epithelial-mesenchymal transformation of glioma cells by regulating lysophosphatidic acid receptor 3 (LPAR3). Methods RT-qPCR was used to detect the level of miR-141-3p and LPAR3 in glioma tissues and cells. Dual luciferase was used to detect the targeting relationship between miR-141-3p and LPAR3. The cells were divided into control group, miR-NC group, miR-141-3p mimics group, miR-141-3p mimics+pcDNA3.1 group, and miR-141-3p mimics+pcDNA-LPAR3 group, and then transfected with corresponding plasmids. RT-qPCR was used to detect the level of miR-141-3p and LPAR3 in cells. EdU method was used to detect cell proliferation. The scratch healing experiment was used to detect cell migration. Western blot was used to detect the expression of proteins related to cell proliferation, migration, and epithelial-mesenchymal transformation. Xenograft tumor model in nude mice was used to observe tumor formation. RT-qPCR was used to detect the level of miR-141-3p in tumor tissue. In addition, Western blot was performed to detect the expression of LPAR3, PCNA, and MMP-2. Results miR-141-3p was downregulated, whereas LPAR3 mRNA was upregulated in glioma tissues and U251, T98G, and CHG-5 cell lines (P<0.05). There was a targeted binding site between miR-141-3p and LPAR3. miR-141-3p mimics significantly increased the expression of miR-141-3p and E-cadherin, but decreased LPAR3 mRNA level, EdU-positive rate, scratch wound healing rate, and the expression of PCNA, cyclin D1, MMP-2, MMP-9, N-cadherin, and vimentin (P<0.05). pcDNA-LPAR3 reversed effect on expression of these factors (P<0.05). Tumor transplantation experiments in nude mice showed that miR-141-3p mimics reduced tumor volume, tumor weight, LPAR3, PCNA, and MMP-2 expression, and increased the level of miR-141-3p (P<0.05). Conclusions miR-141-3p can inhibit proliferation, migration, and epithelial-mesenchymal transformation of glioma cells by down-regulating LPAR3.
    Clinical value of serum SDF-1 and MIP-1α in predicting biliary tract infection after ERCP stone removal in patients with common bile duct stones
    LIU Yanjie, WANG Zhaohui, BAI Xiaobin
    2025, 45(12):  1588-1592.  doi:10.16352/j.issn.1001-6325.2025.12.1588
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    Objective To explore the clinical value of serum stromal cell-derived factor-1 (SDF-1) and macrophage inflammatory protein-1α(MIP-1α) in predicting biliary tract infection after endoscopic retrograde cholangiopancreatography (ERCP) stone removal in patients with common bile duct stones. Methods From January 2022 to January 2024,100 patients with common bile duct stones who underwent ERCP stone removal surgery in Pingdingshan First People′s Hospital were collected. They were grouped into an infection group(12 cases) and a non-infection group(88 cases) based on whether biliary tract infection occurred after surgery. The general information of patients in the two groups was compared. ELISA method was used to measure the levels of serum SDF-1 and MIP-1α. Spearman method was applied to analyze the correlation between the severity of infection and serum level of SDF-1 and MIP-1α. ROC curve was applied to analyze the value of serum SDF-1 and MIP-1α to predict biliary tract infection after ERCP stone removal in patients with common bile duct stones. Results A total of 36 strains of pathogenic bacteria were detected in the biliary drainage fluid samples of the infection group, among which Gram-negative bacteria accounted for 55.56% and Gram-positive bacteria accounted for 44.44%. The infection group showed significantly higher serum levels of SDF-1 and MIP-1α (P<0.05). As the infection worsened, SDF-1 and MIP-1α levels progressively increased (P<0.05). The severity of biliary tract infection was significantly positively correlated with both serum SDF-1 and MIP-1α levels (P<0.05). For predicting biliary tract infection, SDF-1 and MIP-1α exhibited AUC values of 0.761 and 0.825, sensitivities of 63.33% and 66.67%, and specificities of 83.33% and 83.33%, respectively. When combined, the predictive AUC reached 0.977, with a sensitivity of 83.33% and a specificity of 98.33%. Conclusions Serum level of SDF-1 and MIP-1α are significantly elevated in patients with common bile duct stones and biliary tract infections after ERCP stone removal surgery, showing a positive correlation with the severity of the infection. The combination of these two biomarkers demonstrates excellent predictive efficacy for postoperative infection.
    Knockdown of PIAS3 alleviates glucose fluctuation-induced oxidative stress and mitochondrial dysfunction in rat cardiomyocyte cell line H9c2
    CHENG Yongxia, YU Long, LI Huamin, ZHAO Shuo, ZHANG Yiyang, LIU Guibo
    2025, 45(12):  1593-1599.  doi:10.16352/j.issn.1001-6325.2025.12.1593
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    Objective To investigate the effect of PIAS3 on glucose fluctuation-induced oxidative stress and mitochondrial dysfunction in rat cardiomyocytes. Methods H9c2 were cultured in vitro, and divided into normal glucose control group(Control), mannitol-induced osmotic pressure control group(MG), constant high glucose group(HG), intermittent hyperglycemia group(IHG), IHG+siRNA NC group, and IHG+PIAS3 siRNA group. Cell proliferation was assessed using CCK-8 assay. LDH release,MDA and GSH levels, as well as SOD activity, were detected using corresponding kits. Mitochondrial membrane potential was evaluated via JC-1 staining combined with flow cytometry. ROS levels in cells and mitochondria were determined using DCFH-DA and MitoSOX staining, respectively. Protein expression of PI3K, p-PI3K, AKT, and p-AKT was analyzed by Western blot. Results Compared with the control group, intermittent hyperglycemia promoted oxidative stress and mitochondrial dysfunction, significantly upregulated PIAS3 expression(P<0.001) and downregulated p-PI3K and p-AKT protein levels(P<0.001). Knockdown of PIAS3 significantly alleviated oxidative stress and mitochondrial dysfunction induced by glucose fluctuations, and increased p-PI3K and p-AKT protein levels(P<0.001). Conclusions Knockdown of PIAS3 may alleviate glucose fluctuation-induced oxidative stress and mitochondrial dysfunction in ratcardiomyocytes by activating the PI3K/AKT signaling pathway.
    The establishment of primary and transformed human vascular endothelial cell models
    FENG Hailiang, KONG Linghua, DAI Jiayin, YANG Zhenli, BIAN Xiaocui, LIU Yuqin
    2025, 45(12):  1600-1607.  doi:10.16352/j.issn.1001-6325.2025.12.1600
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    Objective To establish primary and simian virus 40 (SV40) T antigen transformed human vascular endothelial cell models, and provide available resources for endothelial research. Methods Human umbilical vein endothelial cells(HUVEC), human umbilical artery endothelial cells(HUAEC), great saphenous vein endothelial cells(GSVEC) and endothelial cells form endometrium and liver tissue were isolated and cultured respectively. Then, the primary endothelial cells were transformed by lentivirus containing SV40 big T and small T antigens, and continuously subcultured in vitro. The expression of CD31 was detected by flow cytometry, species identificationand mycoplasma detection by PCR, and cell identity was identified by STR detection. The transformed ECs were checked for HLA types. Some of them were tested for RNA expression profile and infected by Cas9 lentivirus to establish stable clones. Results Totally 187 cell lines of transformed HUVEC, 1 of transformed HUAEC, 5 of transformed GSVEC, 1 of transformed endothelial cells from endometrium and 1 of transformed endothelial cells from liver tissue, and 9 monoclonal HUVEC cell lines stably expressing Cas9 protein were established. All the transformed umbilical endothelial cells were CD31 positive ranging from 20%-90% for 20 cases, while for the rest 168 cases the positive rate was more than 90%. RNA expression revealed stable activation of cell proliferation(cell cycle and DNA synthesis). Their species were identified as human origin. The STR results were consistent with those of the primary culture and unique, and there was no mycoplasma contamination. All these cells could be obtained with the sharing services of National Science and Technology Infrastructure, the National Biomedical Cell-line Resource centers(NSTI-BMCR). Conclusions A series of primary and SV40 T antigen transformed human vascular endothelial cell models have been established, which provide a tool for the study of cardiovascular diseases, inflammation, tumors and immune-related diseases.
    Interleukin-17A promotes osteoclastogenesis in chronic gouty arthritis
    WANG Yibo, DI Hong, ZHANG Xiaohan, ZHANG Yun, ZENG Xuejun
    2025, 45(12):  1608-1613.  doi:10.16352/j.issn.1001-6325.2025.12.1608
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    Objective Chronic gouty arthritis (CGA) can lead to severe bone erosion resulting in joint destruction, which significantly decreases the life quality and prognosis of CGA patients. Osteoclasts play an important role in this course. We aim to investigate the effect of interleukin-17A (IL-17A) on osteoclast formation in vitro in patients with chronic gouty arthritis (CGA) and its potential mechanism. Methods Osteoclasts induced in vitro from peripheral blood mononuclear cells (PBMC) of healthy controls (HC) and CGA patients were studied. CGA-derived osteoclasts were divided into four groups: untreated group, IL-17A-treated group, carbonyl cyanide 3-chlorophenylhydrazone (CCCP) group, and mitochondrial division inhibitor-1 (Mdivi-1) group. Tartrate-resistant acid phosphatase (TRAP) staining was used to observe and compare osteoclastogenesis between HC and the untreated group. Western blot was performed to detect mitophagy levels and the expression of key osteoclast differentiation factors. Results Compared with healthy controls, CGA patients showed higher osteoclastogenesis(P<0.01). Compared with the untreated group, the IL-17A-treated group showed up-regulated expression of key osteoclast transcription factors and decreased mitophagy levels (P<0.05). Intervention with 10 nmol/L and 15 nmol/L Mdivi-1 significantly promoted the expression of key osteoclast transcription factors (P<0.01). Conclusions IL-17A promotes osteoclast formation in vitro in CGA patients, and its mechanism may be related to decreased mitophagy levels.
    Association of MTHFR C677T gene polymorphism with serum Hcy level and subtypes of ischemic stroke
    ZHANG Yuchao, XIE Mingzhang, ZHOU Xiaochun, ZHAO Mengmeng, YANG Chenyan, LIU Yanxuan
    2025, 45(12):  1614-1618.  doi:10.16352/j.issn.1001-6325.2025.12.1614
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    Objective To investigate the relationship between methylenetetra- hydrofolatereductase (MTHFR) gene polymorphism and serum homocysteine (Hcy) level and subtypes of ischemic stroke (IS). Methods The study was conducted according to the matched principle of case-control design, 310 patients with IS and 330 healthy people during the same period were selected as the case group and the control group. Recycling enzyme method and the real-time fluorescent quantitative PCR (RT-qPCR) method were used to detect the level of serum Hcy and the genotypes of MTHFR C677T, respectively. Results There was a significantly difference in MTHFR C677T genotype and allele frequency between the case and control groups (P<0.05). The correlation analysis with different subtypes indicated that the frequencies of CT genotype (38.02%), TT genotype (10.74%), and T allele (29.75%) were significantly different in the LAA group (OR=1.662,95% CI:1.058-2.608,P<0.05;OR=2.373,95% CI:1.110-5.073,P<0.05;OR=1.663,95% CI:1.190-2.323,P<0.05); The frequencies of TT genotype (10.53%) and T allele (27.30%) in SAO group were also significantly different (OR=2.130,95% CI:1.046-4.336,P<0.05;OR=1.474,95% CI:1.075-2.021,P<0.05).Further analysis of serum Hcy level showed that LAA group (19.55±5.61) μmol/L and SAO group (16.37±5.20)μmol/L were significantly higher than the control group (14.46±4.61)μmol/L (P<0.001); Among the patients of both subtypes the serum Hcy levels in those with CT genotypes and TT genotypes were significantly higher than those in patients of CC genotypes(P<0.001). Conclusions The gene polymorphism of MTHFR C677T has a significant effect on Hcy level in patients with LAA and SAO stroke.
    Analysis of pathogenic variants and prenatal genetic diagnosis in families with congenital insensitivity to pain with anhidrosis
    CHEN Xin, LI Shuang, JIANG Yulin, REN Xiuzhi, ZHAO Xiuli
    2025, 45(12):  1619-1625.  doi:10.16352/j.issn.1001-6325.2025.12.1619
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    Objective Genetic testing and prenatal diagnosis were conducted in 18 congenital insensitivity to pain with anhidrosis(CIPA)families, laying the foundation for reducing the incidence of CIPA. Methods Genetic testing was performed using whole-genome sequencing and/or PCR-Sanger sequencing to identify candidate patho-genic variants in the probands. For deep intronic variants, the pathogenicity was validated through minigene assays, RT-PCR, Sanger sequencing, and co-segregation analysis. DNA extracted from chorionic villus or amniotic fluid cells was analyzed by PCR and Sanger sequencing to determine the genotype of the fetuses. Maternal DNA contamination was excluded by microsatellite allele genotyping. Additionally, multiplex ligation-dependent probe amplification (MLPA) was employed to detect common chromosomal aneuploidies. Results A total of 21 NTRK1 variants were identified across 18 CIPA pedigrees, including 9 missense variants, 2 nonsense variants, 5 frameshift variants, and 5 deep intronic variants. Among them, 3 were novel pathogenic variants. Prenatal genetic diagnosis was performed in 20 high-risk fetuses, revealing 2 normal fetuses, 12 carriers, and 6 affected with CIPA. Microsatellite genotyping confirmed the absence of maternal DNA contamination in fetal samples. Moreover, MLPA analysis excluded common chromosomal aneuploidies associated with syndromic conditions in all tested fetuses. Conclusions This study achieved a 100% molecular diagnosis rate in CIPA families, identified three novel pathogenic variants, and enabled the simultaneous prevention of CIPA and common chromosomal syndromes through integrated prenatal genetic testing, thereby providing critical insights for genetic counseling.
    Association of unhealthy dietary habits with cardiovascular disease and mortality in Chinese residents
    LANG Xinyue, YANG Huihan, LAN Lei, HAN Guoliang, HU Bo, LIU Zhiguang, on behalf of PURE-China investigators
    2025, 45(12):  1626-1631.  doi:10.16352/j.issn.1001-6325.2025.12.1626
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    Objective To explore the potential impact of unhealthy diets on cardiovascular diseases and all-cause mortality. Methods This study included the individuals aged 35-70 years from 45 cities and 70 rural communities across 12 provinces in China, as part of the Prospective Urban Rural Epidemiology(PURE) study. Dietary habits were assessed using a food frequency questionnaire. The dietary health status was scored using the Alternative Healthy Eating Index(AHEI), with participants in the lowest tertile of AHEI being categorized into the unhealthy diet group, while others were classified as the healthy diet group. The primary endpoints included major cardiovascular diseases(myocardial infarction, stroke, or heart failure) and all-cause mortality. Cox proportional hazard models were used to estimate hazard ratios(HR) for each group. Results A total of 40 925 participants were included in the study, with a median follow-up time of 11.9 years(interquartile range 9.6-12.6 years). During this period, 2 066 deaths and 3 099 cases of major cardiovascular diseases were reported. The results showed that unhealthy diet increased the risk of major cardiovascular diseases by 10%(HR=1.10, 95% CI:1.02-1.20, P<0.05) and all-cause mortality by 7%(HR=1.07, 95% CI:1.00-1.18, P<0.05). Among male residents, unhealthy diet did not increase the risk of major cardiovascular diseases or all-cause mortality. However, among female residents, those with an unhealthy diet had a higher risk of major cardiovascular diseases(HR=1.12, 95% CI:1.00-1.25, P<0.05) and all-cause mortality(HR=1.26, 95% CI:1.08-1.46, P<0.05) compared to those with a healthy diet. Conclusions Unhealthy diet increases the risk of major cardiovascular diseases and all-cause mortality, particularly among women. There is a need to raise awareness about healthy dietary to prevent death and the occurrence of major cardiovascular diseases.
    Influence of neighborhood environment walkability on mortality of Chinese residents and its pathway
    CHEN Mengxin, LI Mengya, ZHANG Feiyun, MA Haibin, YOU Kai, HU Bo, LI Wei
    2025, 45(12):  1632-1638.  doi:10.16352/j.issn.1001-6325.2025.12.1632
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    Objective To evaluate the association between self-reported neighborhood walkability environments and mortality in China. Methods The Prospective Urban Rural Epidemiology study in China(PURE-China) recruited 47 931 participants aged 35-70 from 12 provinces in China between 2005 and 2009. Neighborhood environmental indicators were collected using the Neighborhood Environment Walkability Scale(NEWS) questionnaire,with higher scores indicating better walkable environments. The primary outcomes were all-cause mortality and cardiovascular mortality,using Cox fragile model to evaluate the association between community walkability and outcomes,as well as exploring mediating pathways. Results Of 35 490 participants included in this study,60% were female,with a mean(SD) age of 51.5(9.6) years. The median follow-up was 11.7 years. This study found an association between higher community walkability score and reduced risk of all-cause mortality,with the total score(HR=0.85; 95% CI,0.80-0.89),land-use mix(HR=0.84; 95% CI,0.79-0.88),and crime safety(HR=0.84; 95% CI,0.80-0.89) showing the most significant associations. NEWS can affect long-term adverse outcomes through lifestyle. Conclusions In the Chinese population,favorable community walkability is associated with lower all-cause mortality risk,which may support policymakers to take actions to mitigate the adverse effects of poor community environments on health.
    Clinical Sciences
    A case of autosomal dominant intellectual disability type 21 with CTCF mutations
    DING Juan, MA Mingsheng
    2025, 45(12):  1639-1642.  doi:10.16352/j.issn.1001-6325.2025.12.1639
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    Objective To explore the clinical characteristics of autosomal dominant intellectual disability type 21(MRD21)related with CCCTC-binding factor(CTCF) mutations. Methods The clinical data of an outpatient with CTCF mutations, laboratory and genetic test results was retrospectively collected, and relevant literatures were reviewed. Results A 6-year-old male patient had feeding difficulties during the neonatal period and has experienced constipation since infancy. He has exhibited global developmental delay since early childhood, characterized by intellectual and language deficits, as well as autism-like behaviors. There is no history of epileptic seizures. Brain magnetic resonance imaging and electroencephalography findings were normal. Physical examination revealed poor eye contact, microcephaly and no facial dysmorphism. Whole exome sequencing confirmed by Sanger sequencing detected a de novel heterozygous mutation in CTCF: c.1087-2A>G. His parents did not have this mutation. Conclusions The clinical manifestations of MRD21 lack specificity. Intellectual disability is the most frequent finding. Other presentations may also include microcephaly, digestive system symptoms like feeding difficulties and constipation, as well as behavioral abnormalities, which are also relatively common. Genetic testing aids in confirming the diagnosis.
    Efficacy comparison between endovenous laser ablation and high ligation with stripping in the treatment of great saphenous vein varicosities
    WU Xiaodong
    2025, 45(12):  1643-1647.  doi:10.16352/j.issn.1001-6325.2025.12.1643
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    Objective To compare the efficacy of endovenous laser therapy (EVLT) and high ligation and stripping (HLS) in the treatment of great saphenous varicose veins. Methods A retrospective case-control study was used to analyze the clinical data of 416 patients who received treatment for great saphenous varicose veins in Taizhou Second People's Hospital from January 2022 to December 2024. Patients were divided into two groups: 217 patients underwent EVLT (observation group) and 199 underwent HLS (control group). Baseline data (age, sex, BMI, affected side, CEAP classification), operative time, intraoperative blood loss, hospital stay, total treatment cost, postoperative complications, clinical efficacy, and 2-year recurrence rates were compared. Results There were no statistically significant differences in baseline data between the observation group and the control group.In the comparison of key perioperative treatment indicators, the operation duration,intra-operative blood loss, and postoperative hospital stay of the observation group were significantly less than those of the control group(P<0.05),while the total treatment cost of the observation group was significantly higher than that of the control group(P<0.05).In terms of postoperative complication incidence, the observation group had a significant lower rate (9.40%) as compared with the control group (20.20%)(P<0.05). Regarding the total effective rate of treatment, the observation group achieved 98.29%, while the control group reached 96.97%. There was no significant statistical difference in the total effective rate between the two groups. As for the postoperative recurrence rate, the observation group had a rate of 8.55% and the control group 8.08%, with no significant difference. Conclusions Both EVLA and HLAS exhibit remarkable therapeutic effects in treating GSVV, with minimal saphenous nerve injury and low 2-year postoperative recurrence rate. Nevertheless, EVLA has more advantages during and after surgery in terms of less time for surgical operation, less intraoperative bleeding, shorter length of hospital stay, less postoperative complications and faster recovery.
    Case Reports
    Advanced colon cancer with bladder metastasis complicated by disseminated intravascular coagulation: a case report
    LI Siyuan, DONG Jie
    2025, 45(12):  1648-1652.  doi:10.16352/j.issn.1001-6325.2025.12.1648
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    Objective To investigate the management strategies for disseminated intravascular coagulation (DIC) secondary to advanced malignancies. Methods Clinical data of an elderly male with advanced colon cancer, multiple bladder/pelvic wall metastases, and secondary DIC was collected and analysed. Diagnostic and therapeutic processes were systematically evaluated. Results The patient successfully underwent surgery to relieve urinary tract obstruction after transfusion support. Despite subsequent correction of coagulopathy with supportive care and anticoagulation, the prognosis remained poor due to tumor progression and DIC decompensation. Conclusions The management of malignancy-complicated DIC requires dynamic assessment of coagulation status. Temperate anticoagulation might aid in DIC control even in the presence of bleeding risk.
    Anesthesia management for the surgical resection of rectal cancer in a patient with facioscapulohumeral muscular dystrophy:a case report
    CHEN Wen, YU Xuerong, GAO Peng, SHEN Le
    2025, 45(12):  1653-1656.  doi:10.16352/j.issn.1001-6325.2025.12.1653
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    Objective To discuss the perioperative anesthesia management strategy for the surgical resection of rectal cancer in a patient with a rare neuromuscular disease-Facioscapulohumeral Muscular Dystrophy (FSHD) complicated by restrictive ventilatory dysfunction. Methods Clinical data of a patient with FSHD complicated by moderate-to-severe restrictive ventilatory dysfunction undergoing rectal cancer surgery were retrospectively collected; the clinical manifestations, complication, preoperative evaluation, intraoperative anesthesia management and postoperative pain treatment were analyzed and summarized. Results FSHD is a rare genetic disorder, and preopera-tive multidisciplinary evaluation is critical. In this case, total intravenous anesthesia was employed, with invasive arterial pressure monitoring, blood gas analysis, body temperature, sufficient analgesia, close respiratory monitoring and lung protective ventilation strategy after preoperative multidisciplinary evaluation. After thorough sputum suction, lung expansion, and complete recovery of muscle strength, the patient was successfully extubated; ensuring respiratory monitoring after surgery, sufficient analgesia was administered, and transferred to the ICU for monitoring, and ultimately discharged with satisfactory treatment results. Conclusions For patients with rare neuromuscular diseases such as FSHD, thorough preoperative evaluation and optimization are essential. Clinicians should be aware of related complications, such as restrictive ventilatory dysfunction, and develop individualized anesthesia plans. Intraoperative monitoring, particularly of the respiratory and hemodynamic systems, should aim to prevent hypoxia and carbon dioxide retention, thereby reducing the risk of complications.
    Mini Reviews
    Role of SP1 phosphorylation in development of tumor
    XIAO Chengpu, SUN Xutao, SONG Yunjia, XIE Ying, JIANG Deyou
    2025, 45(12):  1657-1661.  doi:10.16352/j.issn.1001-6325.2025.12.1657
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    Phosphorylation is a common post-translational modification of specific protein 1(SP1), which can affect its transcriptional activity and DNA-binding stability by altering the structure of SP1. Phosphorylation of SP1 can promote telomere maintenance, immune escape, and production of vascular endothelial growth factor in cancer cells, promote tumor invasion and metastasis, and increase drug resistance to chemotherapy.
    Advances in synergistic therapies targeting metabolic mechanisms and the immune microenvironment in breast cancer
    ZHANG Yanchi, SHI Junqi, ZHANG Yijun, DUAN Jiawen, LIU Jinyu, ZHANG Liyan, LIANG Wanping
    2025, 45(12):  1662-1667.  doi:10.16352/j.issn.1001-6325.2025.12.1662
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    This review systematically summarizes the unique metabolic mechanisms of breast cancer, their interactions with the tumor microenvironment (TME), and the latest advances in targeted therapies. The interplay between metabolic reprogramming and the TME underpins malignant progression and therapeutic resistance. Breast cancer cells reshape energy supply through the Warburg effect, aberrant fatty acid synthesis, and amino acid metabolism, while immune cells, fibroblasts, and the acidic milieu within the TME promote immune evasion and drug resistance via metabolic coupling. Although traditional strategies targeting key metabolic enzymes remain valuable, they are often insufficient to overcome metabolic adaptability. In recent years, combined metabolic and immunotherapeutic approaches have emerged as promising strategies: by reducing lactate accumulation, restoring T-cell function, and reprogramming tumor-associated macrophages and cancer-associated fibroblasts, these therapies can remodel the immunosuppressive microenvironment and enhance immunotherapy efficacy. The application of metabolomics and single-cell sequencing further elucidates breast cancer heterogeneity, providing a basis for individualized precision treatment. Future challenges include deciphering resistance mechanisms, developing highly selective metabolic inhibitors, and designing integrated multi-omics-based therapeutic regimens.
    Comparison of biological characteristics of natural killer cells from different sources
    WANG Junxia, XIE Zaidong, PAN Chunlei, WU Feng, LIU Dingsheng, ZHU Jianrong, ZHAO Chunhua
    2025, 45(12):  1668-1674.  doi:10.16352/j.issn.1001-6325.2025.12.1668
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    Natural killer cells (NK) are important innate immune cells that do not require prior antigen exposure and can directly recognize and attack virus-infected cells and tumor cells. The activation and effector functions of NK cells are regulated by a balance of signals delivered through their surface activating receptors and inhibitory receptors, which bind to ligands on target cells to achieve cytotoxicity via “induced self” and “missing self” recognition models. The killing mechanisms of NK cells primarily include release of cytotoxic granules such as perforin and granzymes to induce target cell lysis, death receptor-mediated apoptosis, secretion of various cytokines,chemokines and growth factors to coordinate with other immune cells in killing tumor cells, thereby generating secondary immune responses and antibody-dependent cellular cytotoxicity(ADCC).
    Medical Education
    Characteristics of intradepartmental consultation cases in the department of ultrasound medicine and its guiding significance for continuing education
    LIU Chang, JIANG Jie, ZHAO Bo, FU Ying, XUE Heng, JIANG Ling
    2025, 45(12):  1675-1679.  doi:10.16352/j.issn.1001-6325.2025.12.1675
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    Objective To analyze the characteristics of intradepartmental consultation cases in the Department of Ultrasound, identify the technical weaknesses underlying consultation needs, thereby exploring their guiding significance for optimizing the medical education system. Methods A retrospective analysis was conducted on 325 intradepartmental consultation cases from the Department of Ultrasound at Peking University Third Hospital between January 1, 2020, and December 31, 2024. Data on patient sources, time distribution, disease categories, applicant physicians′ seniority, and the positive rate of ultrasound reports were statistically analyzed. Results The majority of consultation cases involved outpatients (74.77%), with the highest proportion originating from General Surgery (98/325, 30.15%), Pediatrics (31/325, 9.54%), and Urology (21/325, 6.46%). Consultations predominantly occurred on weekdays between 10∶00 and 16∶00. Superficial organ diseases constituted the largest disease category (179/325, 55.08%), mainly involving subcutaneous soft tissue, breast, and thyroid subcategories, followed by musculoskeletal and neurological diseases (48/325, 14.77%) and vascular diseases (44/325, 13.54%). Case distribution varied by physician seniority: resident physicians in training primarily requested consultations for superficial organ, vascular, and abdominal cases; specialized training physicians showed an increased proportion of musculoskeletal and neurological cases; while attending physicians who completed specialized training and associate chief physicians demonstrated higher proportions of musculoskeletal and neurological, and pediatric cranial cases. The overall positive rate of ultrasound reports was 88.00%, with negative reports mostly prompting consultations due to discrepancies between subjective symptoms and imaging findings. Conclusions The characteristics of intradepartmental consultation cases reflect the technical weaknesses of ultrasound physicians at different seniority levels, providing helpful insights for refining postgraduate and continuing education systems to enhance the core competencies in ultrasound practice.
    Practice of humanities and professional ethics integrating into the construction of the course “Molecular Biology Experiments of the Gene”
    FU Jun, ZHANG Zhuqin, HAN Wei, ZHANG Ran, GU Jingli, XU Yuanyuan, PENG Xiaozhong
    2025, 45(12):  1680-1683.  doi:10.16352/j.issn.1001-6325.2025.12.1680
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    Objective Exploring the effectiveness of humanities and professional ethics with experimental technology teaching in the course of “Molecular Biology Experiments of the Gene”. Methods Totally 101 students attending the course in the academic year 2024-2025 from Peking Union Medical College were selected as the research subjects. Based on students′ test scores, classroom performance, quality of experimental reports, and feedback from surveys, the effectiveness of construction with humanities and professional ethics in the course were evaluated. Results The students′ test scores have improved, especially the proportion of outstanding students has increased. The accuracy rate of students answering the humanities and professional ethics test questions has reached 98.86%. The success rate of experiments and the quality of experimental reports have significantly improved compared to the previous students. Students′ evaluation of the course has significantly improved. Conclusions Integrating the humanities and professional ethics in the course construction has achieved significant results, including test score, classroom performance, and post class evaluation.
    The PUMC model practice of the professional technical talent knowledge updating project
    ZHAN Kaiwen, ZHANG Shuhua, DENG Mingjun, CAO Jingwen, ZHANG Hua
    2025, 45(12):  1684-1687.  doi:10.16352/j.issn.1001-6325.2025.12.1684
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    The study selected various advanced training programs under the professional technical talent knowledge updating project implemented by Peking Union Medical College from 2021 to 2025 as research subjects, analyzing the organizational structure, key practices, typical cases, and participant satisfaction evaluations of these programs. The results showed that the comprehensive evaluation rate of trainees regarding faculty quality, teaching effectiveness, and service management exceeded 99%, with an excellent satisfaction rating also surpassing 99%. The research indicates that the professional technical talent knowledge updating project serves as a crucial pathway for medical professionals to maintain competitiveness and achieve career development.
    Medical Philosophy
    A brief discussion on the evolution of medical models and the philosophical reflections
    CHEN Gang, DENG Yafang, YU Si, LIU Anlei, WU Haiting, SUN Yifei, WU Dong
    2025, 45(12):  1688-1691.  doi:10.16352/j.issn.1001-6325.2025.12.1688
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    From the natural-philosophical model of medicine in ancient Greece to the modern bio-psycho-social paradigm, the evolution of medical models has always been shaped by philosophy. In classical antiquity, medicine and philosophy were closely intertwined; the natural-philosophical model, exemplified by Hippocrates, emphasized the human body as an integrated whole. During the Renaissance, the rise of experimental science challenged traditional philosophical systems and pushed medicine toward empirical investigation. In the late twentieth century, the bio-psycho-social model emerged to address the limitations of the purely biomedical approach. In the twenty-first century, the advent of artificial intelligence is driving a new transformation in medicine and continually prompting reflection on the future direction of medical models and their underlying philosophical significance.
    Expert View
    A stem cell and integrative medicine system for chronic diseases: a conceptual framework
    ZHAO Chunhua, JI Yunfei, WANG Shihua, AN Xingyan
    2025, 45(12):  1692-1696.  doi:10.16352/j.issn.1001-6325.2025.12.1692
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    This article focuses on the clinical need for curative interventions in chronic diseases. It proposes an integrated medical framework that combines “quantum prediction, prevention and control through Traditional Chinese and Western Medicine, and stem cell repair” and details its path to clinical application. To address the complex, multi-target pathology of diseases like diabetes, this research integrates multiple disciplines: stem cell technology, the holistic philosophy of Traditional Chinese Medicine(TCM), the evidence-based rigor of Western Medicine, and the cutting-edge concepts of quantum biology. The goal is to create a new diagnostic and therapeutic model that synthesizes disease and syndrome classification while bridging macro and micro perspectives, ultimately driving breakthroughs in chronic disease management.Theoretically, the study proposes a strategy to rejuvenate cells and remodel the microenvironment using pluripotent stem cells combined with synergistic TCM-Western Medicine approaches. Practically, it establishes a seamless system—from molecular early-warning and dynamic prevention to tissue repair—supported by standardized protocols, preclinical validation, multi-center clinical trials, and an intelligent health management platform.