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    30 April 2025, Volume 40 Issue 4
    Clinical value and application prospect of circulating biomarkers in hepatocellular carcinoma patients
    MA Xiaolu, GUO Lin, LU Renquan
    2025, 40(4):  309-316.  DOI: 10.3969/j.issn.1673-8640.2025.04.001
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    Primary liver cancer is a malignant tumor with the intense incidence rate and mortality in China,and hepatocellular carcinoma(HCC) is the most important pathological type. The determination based on peripheral blood biomarkers is crucial for the diagnosis,monitoring and prognosis evaluation of HCC. The most commonly used peripheral blood biomarker in clinical practice is alpha-fetoprotein (AFP),but only about 50%-60% of HCC patients are AFP positive,greatly limiting its clinical application. In the recent years,with the development of various determination technologies,more and more new peripheral blood biomarkers for HCC have been identified,which included proteins,circulating tumor DNA(ctDNA),circulating free RNA,extracellular vesicles(EV),circulating tumor cells(CTC) and so on,providing a reference for accurate diagnosis of liver cancer,prognosis and efficacy evaluation. However,the clinical significance of the newest biomarkers lacks systematic review,which has not yet been used in clinical practice. The review focuses on the clinical value of peripheral blood determination indicators for HCC and comments on their application prospects.

    Research progress of exosomal miRNA as biomarkers of hepatocellular carcinoma
    TIAN Ze, LIU Hongrui, SI Wenzhe
    2025, 40(4):  317-323.  DOI: 10.3969/j.issn.1673-8640.2025.04.002
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    Hepatocellular carcinoma(HCC) is a common primary malignant tumor of the digestive system with a high mortality. Due to its insidious onset,early diagnosis is very challenging,and most of the patients are diagnosed at an advanced stage,resulting in a poor prognosis. Traditional serum biomarkers have limitations in sensitivity and specificity for HCC diagnosis. Exosomes,as important communication mediators within the tumor microenvironment,have gradually been utilized for the auxiliary diagnosis of HCC. MicroRNA(miRNA) within exosomes is related to the occurrence and progression of HCC. This review focuses on the application value of exosomal miRNA in the development and progression of HCC,including diagnostic efficacy,therapeutic evaluation and the role in differentiating HCC from liver cirrhosis(LC). It also discusses the value of combined determination of different miRNA in exosomes for disease stratification and prognosis assessment in HCC. Additionally,the methods for exosome extraction and miRNA determination are described to highlight the advantages and potential of miRNA as biomarkers for HCC,and future research directions are outlined.

    Clinical role of STIP1 and AFP-L3 combined determination in diagnosing HCC
    SUN Haiqing, LIU Ning, LOU Jinli, YU Yanhua
    2025, 40(4):  324-330.  DOI: 10.3969/j.issn.1673-8640.2025.04.003
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    Objective To investigate the clinical roles of stress-induced phosphoprotein 1(STIP1) and alpha-fetoprotein-heterogeneity(AFP-L3) in the diagnosis of hepatocellular carcinoma(HCC).Methods From Beijing Youan Hospital of Capital Medical University,between August 2023 and June 2024,88 HCC patients(HCC group),34 hepatitis B patients(hepatitis B group),33 liver cirrhosis patients(liver cirrhosis group) and 26 healthy subjects(healthy control group) were enrolled. An additional validation cohort was established in October 2024,consisting of 17 HCC patients and 33 non-HCC patients(including 15 hepatitis B cases,11 liver cirrhosis cases and 7 healthy subjects). Serum levels of STIP1,alpha-fetoprotein(AFP),AFP-L3 percentage,alanine aminotransferase(ALT),aspartate aminotransferase(AST),total bilirubin(TB),direct bilirubin(DBil),total protein(TP),albumin(Alb),gamma-glutamyltransferase(GGT) and hepatitis B surface antigen(HBsAg) were determined. Spearman correlation analysis was used to evaluate the relationship between STIP1 and AFP-L3 percentage,receiver operating characteristic(ROC) curve was used to assess the diagnostic performance of single and combined determinations for HCC,and Logistic regression analysis was used to identify independent risk factors for HCC.Results The HCC group demonstrated elevated levels of ALT,AST,GGT,STIP1,AFP and AFP-L3 percentage compared to hepatitis B,liver cirrhosis and healthy control groups(P<0.001). Age,STIP1 and AFP-L3 percentage were independent risk factors for HCC [odds ratios(OR) were 1.111,1.015 and 1.036,95% confidence intervals(CI) were 1.052-1.173,1.008-1.021 and 1.000-1.073,respectively,P<0.05]. A positive correlation was observed between STIP1 and AFP-L3 percentage(r=0.493,P<0.001). The areas under curves(AUC) of STIP1,AFP-L3 percentage single and combined determinations in HCC diagnosis were 0.870,0.760 and 0.897,respectively. In the validation cohort,the combined determination model demonstrated superior diagnostic performance with the accuracy of 94.00%,the sensitivity of 88.23% and the specificity of 96.97%.Conclusions STIP1 and AFP-L3 percentage show associations with HCC. The combined determination enhances the diagnostic performance for HCC,suggesting their potential as valuable biomarkers in HCC diagnosis.

    Expressions of CCNB1,PTTG1 and CBX3 in hepatocellular carcinoma and their roles in prognostic assessment
    ZHU Jing, ZHANG Rulin, WU Jun
    2025, 40(4):  331-337.  DOI: 10.3969/j.issn.1673-8640.2025.04.004
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    Objective To investigate the expressions of cell cycle protein B1(CCNB1),pituitary tumor transforming gene 1(PTTG1) and chromobox homolog 3(CBX3) in hepatocellular carcinoma and to further study their roles in prognostic assessment.Methods A total of 94 patients with HCC from January 2007 to December 2008 were enrolled from Shanghai General Hospital of Shanghai Jiaotong University School of Medicine. DNA damage response related differentially expressed genes(DRDEG) were obtained from the Cancer Genome Atlas(TCGA) database,the top 50 pathways associated with DRDEG were screened by gene set variation analysis(GSVA),and potential regulatory networks were constructed by co-expression analysis. The expressions of CCNB1,PTTG1 and CBX3 proteins in different HCC cell lines(Li-7,Huh7,HepG2,PLCPRF5,Hep3B),normal human hepatocyte cell line THLE-2 and cancer and adjacent tissues(2-3 cm from tumor margin) of HCC patients were determined by immunoblotting. Kaplan-Meier survival curves were used to assess the survival of HCC patients. Cox regression analysis was used to assess the risk factors for shorter overall survival in HCC patients.Results In constructing the regulatory network model,CCNB1,PTTG1 and CBX3 were located at the core of the network. The relative expression of CCNB1 protein in each HCC cell was higher than that in THLE-2 cell(P<0.05). The relative expressions of CBX3 protein in Li-7 cells,Huh7 cells,HepG2 cells and Hep3B cells were higher than those in THLE-2(P<0.001). The relative expressions of PTTG1 protein in Li-7 cells,Huh7 cells,HepG2 cells and PLCPRF5 cells were higher than those in THLE-2 cells(P<0.001). The relative expressions of CCNB1,PTTG1 and CBX3 proteins in cancer tissues were higher than those in adjacent tissues(P<0.001). HCC patients with high expressions of CCNB1,PTTG1 and CBX3 proteins(H-score≥150) had a shorter overall survival than those of low expression HCC patients(H-score<150)(P<0.001),and PTTG1,CBX3 and CCNB1 were all risk factors for shorter overall survival in HCC patients(P<0.05).Conclusions CCNB1,PTTG1 and CBX3 may be potential therapeutic targets and prognostic assessment markers for HCC.

    Correlation between ZBED3,CYFRA21-1,VEGF and short-term mortality risk in patients with advanced liver cancer
    CHEN Weilong, WANG Yongbing, CHEN Zegang
    2025, 40(4):  338-343.  DOI: 10.3969/j.issn.1673-8640.2025.04.005
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    Objective To study the roles of zinc finger BED domain-containing protein 3(ZBED3),cytokeratin 19 fragment antigen 21-1(CYFRA21-1),vascular endothelial growth factor(VEGF) in risk assessment of advanced liver cancer patients.Methods A retrospective analysis was conducted on 99 patients with advanced liver cancer treated in Liangping District People's Hospital from January 2020 to December 2022. The clinical data were collected,and ZBED3,CYFRA21-1,VEGF,alpha-fetoprotein(AFP),protein induced by vitamin K absence or antagonist-Ⅱ(PIVKAⅡ) and white blood cell(WBC) count were determined. Neutrophil/lymphocyte ratio(NLR) was calculated. All the patients were followed up for 180 d and classified into death group(35 cases) and survival group(64 cases). Spearman correlation analysis was used to evaluate the correlation among the indicators. Receiver operating characteristic(ROC) curve was used to evaluate the efficacy of each indicator in determining short-term mortality in patients with advanced liver cancer. Kaplan-Meier survival curve was used to analyze the survival of patients with advanced liver cancer. Cox regression analysis was used to evaluate the influencing factors of mortality in patients with advanced liver cancer.Results CYFRA21-1,VEGF,ZBED3,AFP,PIVKAⅡ,WBC count,NLR and Child-Pugh score in death group were higher than those in survival group(P<0.001),and there was no statistical significance in the other indicators between the 2 groups(P>0.05). There were positive correlations between CYFRA21-1,VEGF,ZBED3,Child-Pugh score,AFP,PIVKAⅡ,WBC count and NLR(r values were 0.609,0.364,0.760,0.759,0.651,0.639,0.527 and 0.728,respectively,P<0.05). The areas under curves(AUC) of CYFRA21-1,ZBED3,Child-Pugh score,VEGF,AFP,PIVKAⅡ,WBC count and NLR were 0.868,0.720,0.959,0.955,0.893,0.886,0.818 and 0.939,respectively. The survival rate of high-level CYFRA21-1,VEGF and ZBED3 groups(26.5%,15.0% and 3.3%) were lower than those of low-level groups(84.5%,77.2% and 91.3%)(Log-rank χ2=37.424,32.449 and 99.247,P<0.001). AFP,WBC count,ZBED3 and Child-Pugh score were all risk factors for short-term mortality in advanced liver cancer patients [hazard ratios(HR) were 1.008,1.946,1.013 and 1.237,95% confidence intervals(CI)were 1.002-1.014,1.418-2.672,1.028-1.042 and 1.049-1.460,P<0.05].Conclusions ZBED3,CYFRA21-1 and VEGF are associated with mortality risk in patients with advanced liver cancer,and the combined determination of ZBED3,AFP,WBC count and Child-Pugh score has a high predictive value for the short-term mortality risk in patients with advanced liver cancer.

    Role of preoperative mean corpuscular hemoglobin concentration for predicting postoperative recurrence in intrahepatic cholangiocarcinoma patients
    DAI Jingwen, YANG Shuo, WANG Chong, SUN Lin, GU Meixiu, XIAN Jingrong, PAN Baishen, WANG Beili, ZHANG Chunyan, GUO Wei
    2025, 40(4):  344-349.  DOI: 10.3969/j.issn.1673-8640.2025.04.006
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    Objective To evaluate the predictive role of preoperative mean corpuscular hemoglobin concentration(MCHC) in peripheral blood for postoperative recurrence in patients with intrahepatic cholangiocarcinoma(ICC).Methods A retrospective study was conducted on 114 ICC patients who underwent their first hepatectomy at Zhongshan Hospital of Fudan University from April 2018 to November 2022. Comprehensive clinical data and laboratory test results were collected. The patients were followed up. Receiver operating characteristic(ROC) curve analysis was performed to evaluate the predictive performance of MCHC for postoperative recurrence in ICC patients,and its optimal cut-off value was obtained. Kaplan-Meier survival curve was constructed to analyze postoperative recurrence in ICC patients. Cox regression analysis was used to evaluate the independent risk factors for postoperative recurrence in ICC patients.Results During the follow-up period,59 cases experienced postoperative recurrence. The optimal cut-off value of MCHC for postoperative recurrence in ICC patients was 341 g·L-1. There was statistical significance in tumor numbers and American Joint Committee on Cancer(AJCC)staging between MCHC<341 g·L-1 group and MCHC≥341 g·L-1 group(P<0.05),while other clinicopathologic characteristics showed no statistical significance(P>0.05). The recurrence-free survival rate was higher in MCHC≥341 g·L-1 group compared to MCHC<341 g·L-1 group(Log-rank χ2=4.304,P=0.038). Child Grade B,lymphatic metastasis,and MCHC<341 g·L-1 were identified as independent risk factors for postoperative recurrence in ICC patients [hazard ratios(HR) were 0.049,2.106 and 0.521,95% confidence intervals(CI) were 0.006-0.426,1.238-3.577 and 0.290-0.937,respectively,P<0.05].Conclusions Preoperative MCHC is associated with the prognosis of ICC patients. Lower MCHC in ICC patients is associated with increased postoperative recurrence risk and poorer prognosis.

    Correlation between oxidized high-density lipoprotein and comorbidity of T2DM and PTB
    GUI Jing, WANG Feng, CAI Yumao, HONG Chuangyue, YANG Hui
    2025, 40(4):  350-357.  DOI: 10.3969/j.issn.1673-8640.2025.04.007
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    Objective To investigate the correlation between oxidized high-density lipoprotein(ox-HDL) and the comorbidity of type 2 diabetes mellitus(T2DM) and pulmonary tuberculosis(PTB).Methods From June 2022 to June 2023,60 patients with simple hyperlipidemia,100 patients with T2DM,100 patients with PTB and 100 patients with T2DM+PTB were enrolled from the outpatient department of Shenzhen Center for Chronic Disease Control. Among them,T2DM group,PTB group and T2DM+PTB group were sub-classified into normal blood lipid subgroups and hyperlipidemia subgroups. In addition,60 apparently healthy subjects at Shenzhen Center for Chronic Disease Control were enrolled as control group. Glycated hemoglobin A1c(HbA1c),fasting insulin(INS),fasting serum glucose(FSG),total cholesterol(TC),triglyceride(TG),high-density lipoprotein cholesterol(HDL-C),low-density lipoprotein cholesterol(LDL-C),apolipoprotein A1(apo A1),apolipoprotein B(apo B) and ox-HDL were determined. Multiple Logistic regression analysis was used to evaluate the correlation between ox-HDL level and PTB,T2DM+PTB.Results The ox-HDL levels in T2DM hyperlipidemia subgroup,T2DM+PTB hyperlipidemia subgroup,simple hyperlipidemia and PTB hyperlipidemia subgroup were higher than that in control group(P<0.05). The ox-HDL level of T2DM hyperlipidemia subgroup was higher than that of simple hyperlipidemia group and PTB hyperlipidemia subgroup(P<0.05). The ox-HDL/HDL-C and ox-HDL/LDL-C in PTB,T2DM and T2DM+PTB hyperlipidemia subgroups were higher than those in control group(P<0.05). TG levels in PTB,T2DM and T2DM+PTB hyperlipidemia subgroups were positively correlated with ox-HDL(r=0.295,0.340 and 0.736,P<0.05). Multiple Logistic regression analysis showed that 26 μg·L-1≤ox-HDL<52 μg·L-1 was a risk factor for PTB(P<0.05).Conclusions Increased ox-HDL level(26 μg·L-1≤ox-HDL<52 μg·L-1) is a risk factor for T2DM and PTB comorbidity,and it should be further evaluated as a clinically significant pathological level.

    Molecular characteristics and virulence analysis of hypermucoviscous carbapenem-resistant Klebsiella pneumonia
    LI Hu, ZHU Weinan, CHEN Feng, WANG Jiawei, LIU Ying, SHEN Lisong, ZHENG Yingxia
    2025, 40(4):  358-364.  DOI: 10.3969/j.issn.1673-8640.2025.04.008
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    Objective To study the molecular characteristics and virulence of hypermucoviscous carbapenem-resistant Klebsiella pneumoniae(HM-CRKP),and to provide a reference for clinical research and infection control.Methods The 1 825 isolates of carbapenem-resistant Klebsiella pneumoniae(CRKP) were isolated from inpatients of Xinhua Hospital,Shanghai Jiao Tong University School of Medicine from January 2009 to December 2020,and the string test was used to screen for HM-CRKP. The serotypes of HM-CRKP isolates were identified by capsular wzi genotyping. The 6 major carbapenemase genes(blaKPCblaNDMblaIMPblaVIMblaGES and blaOXA-48) and 4 virulence genes(rmpA2,iucArmpA and iroN) were identified by polymerase chain reaction(PCR). The virulence of isolates were determined by Galleria mellonella larvae infection model.Results Totally,96 isolates of HM-CRKP were screened from 1 825 isolates of CRKP. The determination rate of HM-CRKP had been increasing since the first determination in 2015,reached 12.2% in 2020. The total determination rate of HM-CRKP was 5.3%. Carbapenemase genes were determined in 95 isolates of HM-CRKP,including blaKPC-2blaKPC-3blaNDM-1 and blaIMP-4,and blaKPC-2 was found to be the most predominant(89.6%,86/96). The blaKPC-2 and blaIMP-4 were found in 1 isolate,and 9 different capsular wzi serotypes were found in HM-CRKP,of which wzi64 was the dominant serotype(82.3%,79/96). The 69.8% of HM-CRKP carried rmpA2 and iucA,59.4% of HM-CRKP carried rmpA and iroN. According to the distribution of virulence genes(rmpA2,iucArmpA and iroN),HM-CRKP could be classified into 3 modes. The 59.4% of the isolates were belonged to mode Ⅰ(rmpA2,iucArmpA and iroN were determined simultaneously);the 10.4% of the isolates were belonged to mode Ⅱ(rmpA2 and iucA were determined simultaneously);the 30.2% of the isolates were belonged to mode Ⅲ(rmpA2,iucArmpA and iroN were not determined). The virulence of HM-CRKP isolates was different from each other in Galleria mellonella larvae model,but there was no statistical significance in virulence among HM-CRKP isolates with different virulence gene modes(P>0.05).Conclusions The blaKPC-2 carried wzi64 is the main HM-CRKP collected from Xinhua Hospital,Shanghai Jiao Tong University School of Medicine,and the determination rate of HM-CRKP is increasing year by year. The virulence of HM-CRKP is different from each other,while there is no significant virulence difference of HM-CRKP with different virulence gene modes.

    Establishment of machine learning discriminatory formulas for thalassemia and iron deficiency anemia based on red blood cell morphology and parameters
    LING Xiaoting, PAN Liqiu, HUANG Yunhua, WEI Yuanyuan, DENG Xiaohui, YE Lihua, LIN Faquan, HUANG Yifang
    2025, 40(4):  365-371.  DOI: 10.3969/j.issn.1673-8640.2025.04.009
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    Objective To investigate the application role of machine learning-based red blood cell(RBC) morphological analysis combined with RBC parameters in the differential diagnosis of thalassemia(TT) and iron deficiency anemia(IDA).Methods Totally,162 patients with TT and 75 patients with IDA diagnosed at the First Affiliated Hospital of Guangxi Medical University from January 2021 to April 2023 were enrolled. The Trainable Weka Segmentation(TWS) algorithm was employed for automatic counting and the classification of RBC. Differences in hematological indicators and the percentages of abnormal RBC between groups were compared. Discriminatory formulas were established using stepwise discriminant analysis(SDA),and the diagnostic performance of the formula was evaluated by receiver operating characteristic(ROC) curve.Results Compared with IDA group,the RBC count,hemoglobin(Hb),mean corpuscular hemoglobin(MCH) and mean corpuscular hemoglobin concentration(MCHC) in TT group were higher,and The percentages of spherocytes,stomatocytes,target erythrocytes,teardrop erythrocytes,acanthocytes,serrated erythrocytes and schistacytes in TT group were higher than those in IDA group(P<0.001). The identification formulas for TT and IDA were established based on TWS algorithm and SDA. The area under curve(AUC),sensitivity,specificity and accuracy were 0.93,88.75%,84.02% and 86.91%,respectively. The sensitivity,specificity accuracy of the formula for α-TT and β-TT were 70.3% and 72.8%,respectively.Conclusions The discriminatory formulas established by the use of abnormal RBC morphology and parameters combined with machine learning can be used as an effective tool for the differential diagnosis of TT and IDA,as well as for assisting in the differentiation of α-TT and β-TT.

    Application of gamma-interferon inducible protein-10 mRNA determination technology in diagnosis of extrapulmonary tuberculosis
    ZHANG Guoying, LU Zhongkui, WANG Yuling, XIA Xia, MENG Ke, HE Fang, HUANG Zihui, YANG Zengmin, LIU Xin
    2025, 40(4):  372-376.  DOI: 10.3969/j.issn.1673-8640.2025.04.010
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    Objective To investigate the application value of gamma-interferon inducible protein-10(IP-10)mRNA based polymerase chain reation(PCR) fluorescent probe determination technology(IP-10.TB) in the diagnosis of extrapulmonary tuberculosis.Methods Totally,96 patients with extrapulmonary tuberculosis and 51 patients with nontuberculous lesions(non-tuberculous group) from March to October in 2023 at Nanjing Integrated Traditional Chinese and Western Medicine Hospital of Nanjing University of Traditional Chinese Medicine were enrolled for IP-10.TB determination and interferon gamma release assay(IGRA),and the performance was evaluated,as well as the consistency with Xpert MTB/RIF. Furthermore,the positive determination rates of IP-10.TB and IGRA in different types of extrapulmonary tuberculosis were evaluated.Results Compared with non-tuberculous group(0.0%),the positive determination rate of IP-10.TB in patients with extrapulmonary tuberculosis was higher(85.4%)(χ2=98.518,P<0.001). Compared with IGRA,there was no statistical significance in the sensitivity and specificity of IP-10.TB(χ2=3.200 and 0.033,P>0.05). The positive coincidence rate with Xpert MTB/RIF was 96.3%,the negative coincidence rate was 50.0%,and the total coincidence rate was 89.1%. There was no statistical significance in the positive determination rate of IP-10.TB in 2 different types of extrapulmonary tuberculosis,namely,lymphoid tuberculosis and bone and joint tuberculosis(χ2=0.156,P=0.693).Conclusions IP-10.TB is a method with high sensitivity and high specificity in the diagnosis of extrapulmonary tuberculosis,which can be used for rapid diagnosis of different types of extrapulmonary tuberculosis.

    Clinical roles of serum GDF15 and YKL-40 in elderly patients with gallbladder cancer
    ZHENG Yong, LÜ Lei, HE Kai
    2025, 40(4):  377-382.  DOI: 10.3969/j.issn.1673-8640.2025.04.011
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    Objective To investigate the changes and clinical significance of growth differentiation factor 15(GDF15) and chitinase protein-40(YKL-40) in serum of elderly patients with gallbladder cancer.Methods From October 2021 to February 2023,89 elderly patients with gallbladder cancer(gallbladder cancer group) and 74 elderly patients with gallbladder adenoma-like polyps(benign control group) were enrolled from Dujiangyan Traditional Chinese Medicine Hospital. The clinical data were collected from all the patients,and serum levels of GDF15,YKL-40 and carbohydrate antigen 19-9(CA19-9) were determined. Logistic regression analysis was used to evaluate the influencing factors of gallbladder cancer occurrence. The diagnostic efficacy of various indicators for gallbladder cancer was assessed using receiver operating characteristic(ROC) curves.Results The serum levels of GDF15,YKL-40 and CA19-9 in patients with gallbladder cancer were higher than those in benign control group(P<0.05). Statistically significant differences were observed in serum GDF15,YKL-40 and CA19-9 levels among gallbladder cancer patients with different levels of differentiation,TNM staging and lymphatic metastasis(P<0.05). There was no statistical significance in serum GDF15,YKL-40 and CA19-9 levels among gallbladder cancer patients with different pathological types and tumor diameters(P>0.05). Smoking history,gallbladder adenoma,gallstones,GDF15,YKL-40 and CA19-9 were risk factors for gallbladder cancer(P<0.05). The areas under curves(AUC) for single and combined determinations of serum GDF15,YKL-40 and CA19-9 for the diagnosis of gallbladder cancer were 0.781,0.814,0.827 and 0.930,respectively. The AUC for the diagnosis of early(stage Ⅰ-Ⅱ) gallbladder cancer were 0.754,0.745,0.793 and 0.886,respectively.Conclusions The serum levels of GDF15 and YKL-40 in patients with gallbladder cancer are elevated. The combined determinations of GDF15 and YKL-40 with CA19-9 has high diagnostic value for gallbladder cancer.

    Analysis of genetic causes and related factors of spontaneous abortion in the first trimester of pregnancy
    GUO Tingting, LOU Huan, HU Hangzhan, YANG Xiaofeng
    2025, 40(4):  383-387.  DOI: 10.3969/j.issn.1673-8640.2025.04.012
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    Objective To investigate the genetic causes and related factors of spontaneous abortion in the first trimester of pregnancy.Methods The 765 cases of spontaneous abortion in the first trimester of pregnancy were enrolled from January 2020 to May 2024 in Zhengzhou Central Hospital of Zhengzhou University. The occurrence of chromosomal abnormalities and copy number variation(CNV) was analyzed by microsatellite short tandem repeat(STR) and copy number variation sequencing(CNV-seq),and the factors that may affect early spontaneous abortion were analyzed,including the age of pregnant women and the number of spontaneous abortion.Results Among the 765 cases of spontaneous abortion in the first trimester of pregnancy,there were 320 cases of aneuploidy(41.83%),60 cases of pathogenic/possibly pathogenic CNV(7.84%),42 cases of uncertain significance CNV(5.49%),28 cases of triploidy(3.66%) and 9 cases of homologous uniparental diploidy(1.18%). Two recurrent CNV of uncertain significance(≥2 cases) were identified,including 4q32.3(164718249-164867678)×3 with a frequency of 1.18%(9/765) and 16q22.1(70045096-70166731)×3 with a frequency of 1.70%(13/765). The determination rate of chromosomal numerical abnormalities and pathogenic/possibly pathogenic CNV was higher in the advanced maternal age group(≥35 years old) compared to the younger group(<35 years old)(P<0.001). There was no statistical significance in the determination rates of chromosomal numerical abnormalities,pathogenic/possibly pathogenic CNV and CNV of uncertain significance among women with different numbers of spontaneous abortion(P>0.05).Conclusions The 60% of the cases of spontaneous abortion in the first trimester of pregnancy are due to chromosomal abnormalities. The age of pregnant women is related to chromosomal abnormalities in spontaneous abortion in the first trimester of pregnancy.

    Levels of IFN-γ,IL-4 and Hcy in peripheral blood of patients with psoriasis vulgaris and their relationship with carotid atherosclerosis
    DU Xiaoqing, SHI Liping, ZHOU Meng, YAO Limin
    2025, 40(4):  388-392.  DOI: 10.3969/j.issn.1673-8640.2025.04.013
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    Objective To investigate the levels of interferon-gamma(IFN-γ),interleukin-4(IL-4)and homocysteine(Hcy)in peripheral blood of patients with psoriasis vulgaris (PV) and their relationship with carotid atherosclerosis(CAS).Methods A total of 128 patients with PV were enrolled as PV group,and 66 healthy subjects in the same period were enrolled as control group. The expression levels of IFN-γ,IL-4 and Hcy in peripheral blood and carotid intima-media thickness(CIMT)were compared between the 2 groups. PV patients were classified into CAS group(53 cases)and non-CAS group(75 cases). The correlations between IFN-γ,IL-4 and Hcy levels in peripheral blood of PV patients and CIMT were analyzed by Pearson correlation method. The risk factors affecting the occurrence of CAS in PV patients were analyzed by Logistic regression. Receiver operating characteristic(ROC)curve was used to analyze the predictive value of IFN-γ,IL-4 and Hcy levels in peripheral blood for the occurrence of CAS in PV patients.Results Compared with control group,IFN-γ,Hcy and CIMT levels in peripheral blood of PV group were increased(P<0.001),while IL-4 levels were decreased(P<0.001). IFN-γ and Hcy levels in peripheral blood of PV patients were positively correlated with CIMT(r=0.273 and 0.184,P<0.05),while IL-4 levels in peripheral blood were negatively correlated with CIMT(r=-0.307,P<0.05). Compared with non-CAS group,the levels of LDL-C,IFN-γ,Hcy and CIMT in CAS group were increased(P<0.001),while the levels of IL-4 were decreased(P<0.001). There was no statistical significance for the other indicators between the 2 groups(P>0.05).Increased low-density lipoprotein cholesterol(LDL-C),IFN-γ and Hcy and decreased IL-4 were risk factors for CAS in PV patients(P<0.05). The areas under curves(AUC)of peripheral blood LDL-C,IFN-γ,IL-4 and Hcy levels in predicting CAS occurrence in PV patients were 0.723,0.707,0.855 and 0.732,respectively,which were all lower than the combined determination of 0.916.Conclusions Peripheral blood IFN-γ,IL-4 and Hcy are related to CAS occurrence,which may be the auxiliary diagnosis indicators for CAS.