1.Application of artificial intelligence-based medical decision-making systems in laboratory medicine
Minli YOU ; Chaoyu CAO ; Weiling FU ; Chunyan YAO
International Journal of Laboratory Medicine 2025;46(1):1-6
Artificial intelligence-based medical decision-making systems can significantly accelerate decision processes and enhance accuracy.However,challenges persist in achieving personalized care and in the compre-hensive collection of medical data.This paper explores potential solutions to these issues by examining AI ap-plications in diagnostic omics and multi-dimensional data acquisition,providing an overview of current pro-gress and limitations in developing intelligent medical decision systems through these approaches.Additional-ly,the paper also discusses the broad potential for artificial intelligence applications in medical education and their possible contributions to advancing overall decision-making standards in healthcare.
2.Role of N6-methyladenosine methylation related gene IGF2BP3 in renal clear cell carcinoma
Xianzhong WANG ; Zhong WANG ; Dapeng HE ; Yaming LAI ; Wenya AN ; Zugang SUN ; Xisong XIE ; Chunxiang WU
International Journal of Laboratory Medicine 2025;46(1):27-31
Objective To screen the key N6-methyladenosine(m6A)methylation related genes in renal clear cell carcinoma(ccRCC),and to study their expression and relationship with the prognosis,migration and invasion of renal clear cell carcinoma.Methods The RNA sequencing data and clinical data of ccRCC and ad-jacent tissues were downloaded from the Cancer Genome Atlas(TCGA)and GTEx(Genotype-Tissue Expres-sion).The expression profile and prognosis were analyzed with R 4.1.1,and the key genes were screened.Clinical specimens of 10 patients with ccRCC were collected.The mRNA and protein expressions were detec-ted by RT-qPCR and immunohistochemistry,respectively.In human ccRCC cell line RCC23,siRNA was used to knock down key genes,and CCK-8 was used to detect the survival rate of cells.Scratch test and Trans well test were used to detect the migration and invasion of cells,respectively.Results Among the 19 m6A methyl-ation related genes,only insulin-like growth factor 2 mRNA binding protein 3(IGF2BP3)was highly ex-pressed in cancer tissues,and the high expression was significantly positively correlated with poor prognosis.The high expression of IGF2BP3 was verified in clinical specimens by RT-qPCR and immunohistochemistry.After knockdown of IGF2BP3 by siRNA,the survival rate of RCC23 cells decreased significantly,and the mi-gration and invasion ability of cut cells decreased.Conclusion These results suggest that IGF2BP3 may be an effective biomarker and potential drug target for predicting the prognosis of patients with ccRCC.
3.Clinical application of the single-molecule real-time technology for identification of triplicated α-globin genes and compound variant alleles
Yu ZHANG ; Yanping FANG ; Biqing ZHU ; Liyi LIANG ; Wanjun ZHOU ; Lingxiao JIANG
International Journal of Laboratory Medicine 2025;46(1):32-37,43
Objective To assess the clinical utility of single-molecule real-time technology(SMRT)in identifying triplicated α-globin genes and compound variant alleles.Methods A total of 36 samples with tripli-cated α-globin genes were collected.Among them,28 samples were confirmed by PCR flow-through hybridiza-tion and 8 samples were confirmed by Next Generation Sequencing(NGS).These 36 samples included tripli-cated α-globin genes compound variants with cis or trans arrangements unknown,such as αααanti4 2 compoundαcsα(2 cases),αααanti4.2 compound-α3.7(10 cases),and HKαα/--SEA pending confirmation(2 cases),SMRT technology was employed to detect thalassemia gene variants.Additionally,a pedigree with the genotype ofαααanti4.2 compound-α3.7 variant was recruited,including the proband(Ⅱ-1),its father(Ⅰ-1),and mother(Ⅰ-2).PCR flow-through hybridization and SMRT were employed to detect thalassemia gene variants.Results SMRT detected 35 out of 36 samples with triplicated α-globin genes,and 1 sample with quadrupllcated α-globin genes(ααααanti4.2).Among the 2 αααanti4 2 compound αCSα variant samples,both αααanti42 and αCSα were arranged in trans,with a genotype of αααanti4.2/αCSα.Among the 10 αααanti4.2 compound-α3.7 variant samples,9 samples hadαααanti4.2 and-α3.7 in a cis arrangement,with a genotype of HKαα/αα,and 1 sample had αααannti4.2 and-α3.7 in a trans arrangement,with a genotype of αααanti4.2/-α3.7.Compared with PCR flow-through hybridization,SMRT detected one case of a large segment deletion in the β-globin gene and two unknown variants,which led to an increase in the positive detection rate of approximately 10.71%(3/28).The pedigree analysis showed that the proband(Ⅱ-1)inherited αααanti4.2 and-α3.7 variants from his mother(Ⅰ-2),with a genotype of HKαα/αα,con-sistent with the SMRT detection results.Conclusion SMRT can accurately detect triplicated or quadrupllcat-ed α-globin genes,and compound variant alleles.It offers high accuracy,enables one-step identification of cis or trans arrangements,and provides comprehensive coverage of thalassemia gene variations,demonstrating its significant clinical value.
4.Relationship between minimal residual disease on the 19th day and prognosis of children with acute B-lymphoblastic leukemia
Cong XIN ; Xin MI ; Yusu PAN ; Lei GUO ; Yongchao WANG ; Jizhao GAO
International Journal of Laboratory Medicine 2025;46(1):38-43
Objective To explore the relationship between minimal residual disease(MRD)on the 19th day(D19)and prognosis of children with acute B-lymphoblastic leukemia(B-ALL),as well as the correlation with related biological changes.Methods A total of 88 children with B-ALL newly diagnosed in this hospital from April 2016 to April 2020 who met the enrollment conditions were analyzed for induction therapy D19 MRD,overall survival(OS)rate,event-free survival(EFS)rate,chromosome karyotype,fusion gene and mu-tation gene.MRD≥ 0.01%was considered positive,and they were divided into MRD positive group and MRD negative group.The characteristics of OS rate,EFS rate,immunophenotype and molecular biology/cytogenet-ics were compared between the two groups over a period of 3 years.Results The 3-year OS rate and EFS rate of 88 pediatric patients were 92.0%and 86.4%,respectively.The rates of OS rate and EFS rate in MRD posi-tive group were lower than those in MRD negative group,with statistical significance(P<0.05).The detec-tion rate of CD10 in MRD positive group was lower than that in MRD negative group,and the difference was statistically significant(P<0.05).Thirty-two patients(36.4%)detected 8 types of 35 fusion genes.The de-tection rates of BCR-ABL1 and E2A-PBX1 in MRD positive group were higher than those in MRD negative group,and the differences were statistically significant(P<0.05).Among 48 cases(54.5%)of pediatric pa-tients,41 types of 91 mutated genes were detected,and the remaining mutated genes were less than 5 cases.Abnormal karyotype was detected in 18 cases(20.5%),and no mitotic phase was detected in 17 cases.There was no difference in MRD between normal and abnormal karyotype.Binary Logistic regression analysis showed that BCR-ABL1 and E2A-PBX1 were prognostic factors of children with B-ALL.Conclusion The positive D19 MRD is the influential factor of adverse OS and EFS in children with B-ALL.Both E2A-PBX1 and BCR-ABL1 have adverse effects on the prognosis of children with B-ALL.
5.Evaluation value of serum FSTL1 and GRP78 on disease severity and readmission in elderly COPD patients
Yanan LI ; Junyan XIA ; Xuemei LIAN ; Yonghong GAO
International Journal of Laboratory Medicine 2025;46(1):44-48
Objective To explore the evaluation value of serum follistatin like protein 1(FSTL1)and glu-cose regulatory protein 78(GRP78)on disease severity and readmission in elderly patients with chronic ob-structive pulmonary disease(COPD).Methods A total of 100 elderly COPD patients(COPD group)treated in this hospital from March 2020 to May 2023 were selected as COPD group,and were divided into grade Ⅰ(35 cases),grade Ⅱ(46 cases)and grade Ⅲ(19 cases)according to the severity of the disease.Another 100 elderly volunteers who underwent physical examination during the same period were selected as the control group.Serum FSTL1 and GRP78 levels were detected by enzyme-linked immunosorbent assay(ELISA).Spearman and Pearson correlation were used to analyze the correlation between serum FSTL1 and GRP78 lev-els and general data.The evaluation value of serum FSTL1 and GRP78 levels in COPD patients on disease se-verity and readmission was analyzed by receiver operating characteristics(ROC)curve.Results Compared with the control group,serum levels of FSTL1 and GRP78 in COPD group were significantly increased(P<0.05).Serum levels of FSTL1 and GRP78 in COPD patients increased with the severity of the disease(P<0.05).Compared with non-readmission group,the serum levels of FSTL1 and GRP78 in readmission group were significantly increased(P<0.05).Spearman correlation analysis showed that serum FSTL1 and GRP78 levels were positively correlated with smoking history,hypertension history and disease severity(P<0.05).Pearson correlation analysis showed that serum FSTL1 and GRP78 levels were negatively correlated with arte-rial oxygen pressure(PaO2),the ratio of forced expiratory volume in the first second to forced vital capacity(FEV1/FVC),and the percentage of forced expiratory volume in the first second to expected value(FEV1%pred),with significance(P<0.05),while it was positively correlated with the partial pressure of carbon diox-ide(PaCO2),with significance(P<0.05).ROC curve analysis showed that serum FSTL1,GRP78 and their combined assessment of disease severity and readmitted area under the curve(AUC)were higher in COPD pa-tients,and the combination was significantly better than the single assessment(P<0.05).Conclusion Serum levels of FSTL1 and GRP78 are significantly increased in COPD patients,which are correlated with the severi-ty of the disease and have a high value in evaluating the severity of the disease and readmission.
6.Serum MST4 and HSP70 levels in children with idiopathic immune thrombocytopenia and their clinical significance
Huishuang XU ; Mingli QU ; Fang YAN ; Rui YUE ; Jing GUO ; Yinsha MIAO
International Journal of Laboratory Medicine 2025;46(1):49-53
Objective To explore serum levels of serine/threonine protein kinase 4(MST4)and heat shock protein 70(HSP70)in children with idiopathic immune thrombocytopenia(ITP)and their clinical signifi-cance.Methods Totally 98 children with ITP admitted to Northwest Women and Children's Hospital from April 2019 to April 2023 were retrospectively selected as the ITP group,and 50 healthy children who under-went physical examination during the same period were selected as the control group.Enzyme linked immu-nosorbent assay was used to detect serum levels of MST4 and HSP70,and the serum MST4 and HSP70 levels in children with different ITP levels were compared.The correlation between the indicators were analyzed by Pearson correlation.Logistic regression model was used to screen the prognostic factors of ITP,and the as-sessment value of serum MST4 and HSP70 on ITP prognosis was analyzed by subject working characteristic curve.Results Serum MST4,HSP70,and CD8 in the ITP group were higher than those in the control group,while PLT,CD3+,CD4+,CD4+/CD8+were lower than those in the control group,with statistical significance(P<0.05).Serum MST4 and HSP70 levels in mild group,moderate group and severe group were increased successively,with statistical significance(P<0.05).Correlation analysis showed that serum MST4 and HSP70 were positively correlated with CD8+(P<0.05),and negatively correlated with PLT,CD3+,CD4+,CD4+/CD8+(P<0.05).The disease course,serum MST4 and HSP70 of ITP children in the poor prognosis group were higher than those in the good prognosis group,and the differences were statistically significant(P<0.05).Logistic regression analysis showed that the course of disease(OR=1.579,P<0.001),serum MST4(OR=1.451,P<0.001)and serum HSP70(OR=1.442,P<0.001)were independent risk factors af-fecting the prognosis of children with ITP.The area under the curve of serum MST4 and HSP70 combined in the assessment of poor prognosis of ITP children was larger than that of serum MST4 and HSP70,and the difference was statistically significant(Z=4.568,4.672,both P<0.001).Conclusion The elevated serum MST4 and HSP70 levels in children with ITP are related to the severity of the disease and cellular immune function.The combination of the two has a high evaluation value for the prognosis of children with ITP.
7.Construction and verification of neonatal ABO-blood group system hemolytic disease of the newborn risk prediction model
Wa LI ; Qilin TAN ; Xuliang WU ; Yimin WEN ; Xiujuan LIAO ; Zhuohong HUANG
International Journal of Laboratory Medicine 2025;46(1):54-59
Objective To construct a model that can predict the risk of diagnosing ABO-blood group sys-tem hemolytic disease of the newborn(ABO-HDN)and to verify its effectiveness.Methods A total of 446 children with neonatal hyperbilirubinemia who met the inclusion criteria and were first diagnosed in this hos-pital from January 2022 to March 2023 were selected as the modeling group,and were divided into the develo-ping group(200 cases)and the non-developing group(246 cases)according to whether ABO-HDN was diag-nosed.Totally 17 potential influencing factors were included for univariate analysis and multi-factor analysis,and independent risk factors were included in R software to establish a Nomogram model to predict the risk of ABO-HDN.Another 105 cases of neonatal hyperbilirubinemia in the hospital from April to September 2023 were selected as the verification group.Results In the modeling group,Logistic regression analysis showed that maternal pregnancy number,prenatal serum titer,hemoglobin level,white blood cell count,creatine ki-nase level and neonatal Apgar 1 min score were all independent risk factors for ABO-HDN(P<0.05).Multi-variate Logistic regression analysis showed that the area under receiver operating characteristic(ROC)curve of the modeling group was 0.819(95%CI:0.779-0.859),sensitivity was 0.655,specificity was 0.878.In the verification group,the area under ROC curve was 0.867(95%CI:0.800-0.933),the sensitivity was 0.803,and the specificity was 0.773.Conclusion The established predictive model scoring system can effec-tively predict the risk of ABO-HDN.
8.Predictive value of heel blood TSH and IGF-1 for congenital hypothyroidism
Yupei ZHANG ; Jie SONG ; Ailin GUO
International Journal of Laboratory Medicine 2025;46(1):60-64
Objective To explore the predictive value of heel blood thyrotropin stimulating hormone(TSH)and insulin-like growth factor-1(IGF-1)for congenital hypothyroidism(CH).Methods A total of 83 children with CH admitted to the Seventh Medical Center of the Chinese People's Liberation Army General Hospital from January 2021 to January 2024 were selected as the study group,and 53 healthy newborns born and examined in the center during the same period were selected as the control group.Heel blood TSH,IGF-1 and thyroid function were measured in both groups.Heel blood TSH,IGF-1 and thyroid function indexes were compared between the two groups,and the correlation between heel blood TSH,IGF-1 and thyroid function indexes was analyzed,the influencing factors of CH occurrence were analyzed,and the predictive value of heel blood TSH,IGF-1 and thyroid indexes for CH was analyzed.Results Pearson correlation analysis showed that heel blood TSH was negatively correlated with FT4,TT3,FT3 and TT4(r=-0.522,-0.468,-0.539,-0.667,all P<0.05).IGF-1 was positively correlated with FT4,TT3,FT3,TT4(r=0.394,0.427,0.511,0.562,all P<0.05).The results of receiver operating characteristic curve analysis showed that the area under the curve of TSH,IGF-1 and their combination were 0.800,0.794 and 0.822,respectively.Univariate and multiple Logistic regression analysis showed that birth weight,family history,TSH,IGF-1,FT4,FT3 were the influencing factors for the occurrence of CH(P<0.05).Conclusion The combined detection of TSH and IGF-1 levels in heel blood has a certain predictive value for the occurrence of CH,and can provide a basis for the disease assessment of children.
9.Expression and significance of serum miR-503 and miR-186 in patients with vascular dementia caused by ischemic stroke
International Journal of Laboratory Medicine 2025;46(1):65-69
Objective To explore the expression and clinical significance of serum microRNA(miR)-503 and miR-186 in patients with vascular dementia(VD)caused by ischemic stroke.Methods A total of 126 pa-tients with ischemic stroke admitted to this hospital from December 2020 to December 2022 were selected as the observation group,and were divided into VD group(35 cases)and non-VD group(91 cases)according to the results of follow-up visits 3 months after treatment.Another 61 healthy subjects who underwent physical examination in the same period were selected as the health group.The expression levels of serum miR-503 and miR-186 were detected by quantitative fluorescence PCR(qPCR),and the general data of VD group and non-VD group were compared.Logistic regression model was used to analyze the factors affecting the occurrence of VD in patients with ischemic stroke,and ROC curve was drawn to analyze the efficacy of serum miR-503 and miR-186 in predicting the occurrence of VD after ischemic stroke.Results Serum miR-503 and miR-186 ex-pression levels in non-VD group and VD group were higher than those in healthy group(P<0.05),and serum miR-503 and miR-186 expression levels in VD group were higher than those in non-VD group(P<0.05).Pearson analysis showed that there was a significant positive correlation between serum miR-503 and miR-186 expression level in patients with VD caused by ischemic stroke(r=0.462,P<0.001).There were statistical-ly significant differences in hypertension,NIHSS score,smoking proportion and mRS score between the two groups(P<0.05).Smoking,hypertension,NIHSS score,mRS score,serum miR-503 expression level and ser-um miR-186 expression level were risk factors for VD in patients with ischemic stroke(P<0.05).The area under the curve(AUC)of serum miR-503 and miR-186 combined to predict VD in ischemic stroke patients was 0.948,and the sensitivity and specificity were 85.70%and 92.30%,respectively.The prediction efficacy was better than that of serum miR-503 and miR-186 alone(Z=2.784,2.275,P=0.005,0.023).Conclusion Serum miR-503 and miR-186 are highly expressed in patients with VD caused by ischemic stroke,and which have predictive value for the occurrence of VD in patients with ischemic stroke.
10.Relationship between serum CHI3L1,SDC1 levels and bone metabolism in elderly patients with type 2 diabetes mellitus and their predictive efficacy on osteoporosis
Jiamin ZHOU ; Chao LUO ; Lijun AN ; Ning YANG ; Jing ZHANG ; Yuan ZHANG ; Jialin XUN ; Qian WANG
International Journal of Laboratory Medicine 2025;46(1):70-74
Objective To explore the relationship between serum chitosinase 3-like protein 1(CHI3L1)and Syndecan-1(SDC1)levels and bone metabolism in elderly patients with type 2 diabetes mellitus and their predictive efficacy on osteoporosis.Methods A total of 412 elderly patients with type 2 diabetes admitted to this hospital from May 2019 to May 2023 were included in this study,and were divided into normal bone mass group(n=151),reduced bone mass group(n=138)and osteoporosis group(n=123)according to the iffer-ences in bone mineral density.Serum CHI3L1 and SDC1 levels were detected by enzyme-linked immunosor-bent assay,and serum levels of type 1 collagen cross-linked carboxyl terminal peptide(CTX),25-hydroxyvita-min D[25-(OH)D],osteocalcin(OC),and type 1 procollagen N-terminal propeptide(P1NP)were deter-mined by automatic chemiluminescence immunoassay.Pearson correlation analysis was used to investigate the relationship between serum CHI3L1,SDC1 and bone metabolism in elderly patients with type 2 diabetes.Re-ceiver operating characteristic(ROC)curve was drawn to evaluate the predictive value of serum CHI3L1 and SDC1 on osteoporosis in elderly patients with type 2 diabetes.Multivariate Logistic regression analysis was used to investigate the influencing factors of osteoporosis in elderly patients with type 2 diabetes.Results There were significant differences in diabetes course,fasting blood glucose,HbA1c and HDL-C a-mong normal bone mass group,decreased bone mass group and osteoporosis group(P<0.05).The levels of serum CHI3L1,25-(OH)D,P1NP and osteocalcin in osteoporosis group were lower than those in osteopenia group,and those in osteopenia group were lower than those in normal bone mass group,the differences were statistically significant(P<0.05).Serum SDC1 and CTX levels in osteoporosis group were higher than those in osteopenia group,and those in osteopenia group were higher than those in normal bone mass group,the differences were statistically significant(P<0.05).Serum CHI3L1 was positively correlated with 25-(OH)D,P1NP and OC(P<0.05),and negatively correlated with CTX(P<0.05).Serum SDC1 was negatively correlated with 25-(OH)D,P1NP,OC(P<0.05),and positively correlated with CTX(P<0.05).The area under the curve(AUC)of serum CHI3L1,SDC1 and their combination predicted osteoporosis in elderly pa-tients with type 2 diabetes were 0.851,0.772 and 0.904,respectively.Multivariate Logistic regression analysis showed that long duration of diabetes,increased HbA1c,high expression of OC,CHI3L1>4.16 ng/mL,SDC1≥50.94 ng/mL were all influential factors for osteoporosis in elderly patients with type 2 diabetes(P<0.05).Conclusion Low expression of CHI3L1 and high expression of SDC1 in serum are associated with ab-normal bone metabolism in elderly patients with type 2 diabetes.These two indexes are expected to be used as biological markers to predict osteoporosis in elderly patients with type 2 diabetes.

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