Objective To investigate the clinical application value of GeneXpert Mycobacterium tuberculosis (MTB)/ rifampin (RIF) in urine samples for tuberculosis diagnosis. Methods The patients with clinically highly suspected tuberculosis admitted to West China Hospital of Sichuan University between January 1, 2018 and June 1, 2023 were selected retrospectively. The diagnostic efficacy of urine GeneXpert MTB/RIF detection, such as sensitivity, specificity, positive predictive value, and negative predictive value, were retrospectively analyzed to evaluate its clinical value in the diagnosis of tuberculosis. Correlation analysis was further conducted to explore the correlation between positive levels of GeneXpert MTB/RIF in urine samples and laboratory test indicators. Results A total of 400 patients were included. Among them, 163 cases were in the clinical tuberculosis group and 237 cases were in the clinical non tuberculosis group. In the clinical tuberculosis group, 112 cases were urogenital tuberculosis patients and 51 cases were non-urogenital tuberculosis patients. The sensitivity, specificity, positive predictive value, and negative predictive value of urine GeneXpert MTB/RIF in the diagnosis of tuberculosis were 55.2%, 97.5%, 93.8% and 76.0%, respectively. The sensitivity, specificity, positive predictive value, and negative predictive value of urine GeneXpert MTB/RIF in the diagnosis of urogenital tuberculosis were 65.2%, 92.0%, 76.0% and 87.2%, respectively, and the diagnostic sensitivity was further improved. Correlation analysis showed that the positive degree of urine GeneXpert MTB/RIF was correlated with the levels of hemoglobin, serum total protein, blood serum albumin, and other indicators. Conclusions Urine GeneXpert MTB/RIF detection offers high sensitivity and specificity in the diagnosis of tuberculosis, especially in urogenital tuberculosis, which is helpful for the early and rapid diagnosis of tuberculosis patients. The positive degree reported by the GeneXpert MTB/RIF in urine may indicate disease severity.
目的：调查6个短串联重复（short tandem repeat，STR）基因座在中国四川成都汉族人群中的基因频率分布。方法：应用四色荧光标记引物复合扩增技术对260名成都汉族无关个体的血样6个STR基因座进行多态性研究。结果：在四川成都汉族人群中6个STR基因座个体识别机率PD为0.796～0.913，杂合度HO为0.627～0.796，多态信息含量PIC为0.57～0.75。6个STR基因座PD总值为0.999 995 97。所有基因座经卡方检验符合Hard-Weinberg平衡。结论：上述6个STR基因座在成都汉族人群中等位基因分布较好，个体识别率高，适合法医个体识别和亲子鉴定。
Delay in diagnosis of tuberculosis and the presence of drug-resistant tuberculosis are huge threats to global tuberculosis disease control. Early detection of active tuberculosis, especially the detection of drug-resistant Mycobacterium tuberculosis strains, is necessary. This paper emphasizes on the application of the molecular diagnostic techniques in the field of rapid detection of Mycobacterium tuberculosis and drug-resistant Mycobacterium tuberculosis, and discusses the performance of current molecular diagnostic techniques in solving clinical detection difficulties. The paper aims to provide the theoretical thinking for the diagnosis of tuberculosis in the future.
Tuberculosis is one of the major infectious diseases that seriously endanger human health. Since 2014, it has surpassed human immunodeficiency virus/acquired immunodeficiency syndrome as the first infectious disease in patients with single pathogens. China is the third-largest country in the world in terms of high burden of tuberculosis. In 2016, there were about 900 000 new cases of tuberculosis in China. China is facing a severe tuberculosis epidemic, especially for the early diagnosis of tuberculosis and misdiagnosis of tuberculosis, which leads to delay in treatment and the spread of tuberculosis. With the application of artificial intelligence in the medical field, machine learning and deep learning methods have shown important value in the diagnosis of tuberculosis. This article will explain the application status and future development of machine learning and deep learning in the diagnosis of tuberculosis.
ObjectiveTo explore the pathogenesis of tuberculosis and provide new ideas for its early diagnosis and treatment.MethodsGSE54992 gene expression profile was obtained from the gene expression database. Differentially expressed genes (DEGs) were screened using National Center forBiotechnology Information platform, and GO enrichment analysis, pathway analysis, pathway network analysis, gene network analysis, and co-expression analysis were performed to analyze the DEGs.ResultsCompared with the control group, a total of 3 492 genes were differentially expressed in tuberculosis. Among them, 1 686 genes were up-regulated and 1 806 genes were down-regulated. DEGs mainly involved small molecule metabolic processes, signal transduction, immune response, inflammatory response, and innate immune response. Pathway analysis revealed chemokine signaling pathway, tuberculosis, NF-Kappa B signaling pathway, cytokine-cytokine receptor interaction, and so on; gene signal network analysis found that the core genes were AKT3, PLCB1, MAPK8, and NFKB1; co-expression network analysis speculated that the core genes were PYCARD, TNFSF13, PHPT1, COMT, and GSTK1.ConclusionsAKT3, PYCARD, IRG1, CD36 and other genes and their related biological processes may be important participants in the occurrence and development of tuberculosis. Bioinformatics can help us to comprehensively study the mechanism of disease occurrence, which can provide potential targets for the diagnosis and treatment of tuberculosis.
With the continuous development of modern laboratory medicine, the intersection of laboratory medicine and multi-disciplines such as chemistry, physics, and biology has become an inevitable trend, and received extremely extensive attention. As a new nanomaterial with great application prospect in the field of chemistry, quantum dots have brought a new idea for medical laboratory research. This paper summarizes the research status and progress of quantum dots in the diagnosis of infectious diseases, tumors and other diseases. The advantages and disadvantages of existing detection techniques based on quantum dots are discussed in order to provide theoretical thinking for the application of this nanomaterials in laboratory medicine in the future.
ObjectiveTo investigate the relationship between the gene polymorphism of autophagy-related gene 3 (ATG3) and the development and clinical symptoms of tuberculosis in tuberculosis patients in western China.MethodsAccording to the inclusion and exclusion criteria, 476 tuberculosis patients (tuberculosis group) who were admitted to West China Hospital of Sichuan University from December 2014 to November 2015 and 475 healthy controls (healthy control group) who underwent health examination during the same period were finally included. High-throughput genotyping technology was used to detect genotypes of three single nucleotide polymorphisms (SNPs) (rs2638029, rs2638037, rs3732817) of ATG3 gene, and relevant clinical data of subjects were collected. The relationship between gene polymorphism and susceptibility to tuberculosis and clinical symptoms was analyzed by statistical methods such as χ2 test and logistic regression model.ResultsExcept for GA genotype [odds ratio (OR) =1.375, 95% confidence interval (CI) (1.048, 1.805), P=0.022] and dominant genetic model GG+GA [OR=1.326, 95%CI (1.024, 1.717), P=0.032] in rs2638037, there was no statistically significant difference in the allele frequency, genotype and genetic patterns of rs2638029, rs3732817 and rs2638037 between the two groups (P>0.05), after the adjustment of the gender and age. But after correction by Bonferroni, GA genotype and dominant genetic patterns GG+GA showed no statistical significance between the two groups (P=0.132, 0.201). Haplotype CGA was associated with tuberculosis susceptibility [OR=1.262, 95%CI (1.001,1.593), P=0.048]. There was a statistically significant difference in weight loss symptoms among rs2638037 genotypes (χ2=8.131, P=0.017).ConclusionsThe haplotype CGA of three SNPs of ATG3 gene may be involved in the development of tuberculosis. The rs2638037 single nucleotide polymorphism may be related to weight loss, and more research is needed in the future.
Objective To investigate HPV infection, genotype distribution of HPV infection among 8 944 females of health examination in West China Hospital of Sichuan University. Methods We enrolled 8 944 females of health examination in West China Hospital of Sichuan University from January to September in 2016. HPV genotyping was performed by Luminex fluorescence technique. Excel 2007 and SPSS 17.0 softwares were used to analyze the infection and genotype distribution of HPV. Results The HPV infection rate of 8 944 health examination women was 14.4% (1 291/8 944). Among them, there were 1 025 cases of single infection, the infection rate was 11.5% (1 025/8 944); there were 266 cases of multiple infection, the infection rate was 3.0% (266/8 944). The infection rates of 20 to 25 years and ≥66 years groups in single and multiple infection were higher than other age groups. In the single and multiple infections, the most common genotypes were HPV52, 53, 16 and 58. Infection rate of HPV52 was the highest in single infection, which had two increased age groups including 31 to 35 years and 61 to 65 years old. Infection rate of HPV52 and HPV16 were increased in 20 to 25 years old group of multiple infections. Conclusion In view of the prevalence of HPV infection among health examination females and the genotype distribution, we recommend incorporating HPV52, 53 and 58 into future vaccine screening.
ObjectiveTo investigate the associations of signal transducers and activators of transcription 6 (STAT6) gene polymorphisms with susceptibility to tuberculosis in western Chinese Han population.MethodsA total of 900 tuberculosis patients and 1 534 healthy controls of West China Hospital of Sichuan University were enrolled from January 2014 to February 2016. Improved multiplex ligation detection reaction method was used to detect four polymorphisms (rs1059513, rs73118432, rs841718, and rs10783813) of STAT6 gene. The allelic frequencies, genetic types, and different genetic models were analyzed using the chi-square test and unconditional logistic regression models to evaluate the associations of STAT6 gene with tuberculosis risk.ResultsEventually, a total of 856 cases and 1 511 health controls were recruited in our study. No significant differences were observed in allele frequencies, genotype distributions, or genetic models (additive model, dominant model and recessive model) at rs1059513, rs73118432, rs841718, and rs10783813 in STAT6 gene (P>0.05). We found a strong linkage disequilibrium among rs73118432, rs841718, and rs10783813, but there was no statistical difference in haplotype frequencies between the two groups (P>0.05).ConclusionsSTAT6 gene rs73118432, rs841718, rs10783813, and rs1059513 polymorphisms might have no associations with tuberculosis susceptibility in western Chinese Han population. Further studies with larger sample sizes are needed to comfirm these results.
ObjectiveTo analyze the diagnostic efficacy of colloidal gold immunochromatography assay (GICA) in detection of SARS-CoV-2.MethodsUsing GICA detection kits from three different manufacturers, 33 serum samples were collected from 12 patients with SARS-CoV-2 infection at different time and 45 serum samples from 45 patients without SARS-CoV-2 infection were collected from West China Hospital of Sichuan University from January to February, 2020.ResultsThe sensitivity, specificity, positive predictive value and negative predictive value of the three GICA reagents were 66.7% - 90.9%, 73.3% - 100.0%, 71.4% - 100.0% and 80.4% - 91.7% respectively. The rates of missed diagnosis and misdiagnosis were 9.1% - 33.3% and 0 - 26.7%, respectively. The positive rate decreased with titer increasing. The interference factors mainly included human immunodeficiency virus infection, high rheumatoid factor blood samples, and hemolysis.ConclusionClinical laboratories should pay attention to the differences in the detection ability and potential cross-reaction of different reagents, or use a combination of multiple antibodies.