目的：調查6個短串聯重復（short tandem repeat，STR）基因座在中國四川成都漢族人群中的基因頻率分布。方法：應用四色熒光標記引物復合擴增技術對260名成都漢族無關個體的血樣6個STR基因座進行多態性研究。結果：在四川成都漢族人群中6個STR基因座個體識別機率PD為0.796～0.913，雜合度HO為0.627～0.796，多態信息含量PIC為0.57～0.75。6個STR基因座PD總值為0.999 995 97。所有基因座經卡方檢驗符合Hard-Weinberg平衡。結論：上述6個STR基因座在成都漢族人群中等位基因分布較好，個體識別率高，適合法醫個體識別和親子鑒定。
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.
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.
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.
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 HCV genotypes in HCV patients in West China Hospital of Sichuan University, and to analyze the major genotypes and clinical characteristics. Methods From March 2011 to September 2016, 4 520 HCV patients who were successfully genotyped HCV genotypes were enrolled in West China Hospital of Sichuan University. The genotypes distributions and the characteristics of laboratory characteristics of liver function, the viral loading were all analyzed. In addition, the genotypes in HCC patients, liver cirrhosis, HBC/HCV co-infection were also analyzed. Results HCV genotypes of HCV patients were divided into five genotypes of 1, 2, 3, 4, 6 and 23 subtypes, including predominant genotypes/subtypes 1b, 1*, 3b, 2a, 3a and 6a, accounting for 66.42%, 8.01%, 6.57%, 4.54%, 4.29%, and 3.41%, respectively. Subtype 1b was the predominant subtype for both sex. In male patients, the levels of ALT were highest in 6a subtype, while in female, the levels of ALT were highest in 3a subtype. For the 94 liver cirrhosis patients, 42 patients were 1b subtypes; as for the 6 HCC patients, 1b and 3b subtypes were the only detected. Conclusion HCV genotypes/subtypes of HCV patients in West China Hospital of Sichuan University have unique characteristics of distribution, while the predominant genotype/subtypes are 1b,1*, 3b, 2a, 3a, 6a.
ObjectiveTo analyze the clinical characteristics and measures of diagnosis and treatment of renal transplant recipients complicated with Pneumocystis carinii pneumonia (PCP), in order to provide basis for prevention and treatment.MethodsThe clinical data of 82 renal transplant recipients complicated with PCP admitted to the West China Hospital of Sichuan University from January 2016 to December 2019 were retrospectively analyzed.ResultsThe median time from transplantation to diagnosis of PCP was 3.50 (2.78, 8.27) months, and 57 cases (69.51%) were occurred within 6 months. The main clinical manifestations were fever, cough and shortness of breath, and chest CT scan mainly showed ground-glass opacity and patchy shadows. The laboratory examination showed a decrease of lymphocyte, increased high-sensitivity C-reactive protein and (1-3)-beta-D glucan. All 82 patients (100%) were complicated with bacterial, virus infections or other fungal infections. The median time of diagnosis, treatment and hospital stay was 6.00 (3.00, 8.25) d, 20.00 (12.75, 32.25) d, 26.50 (20.75, 39.00) d, respectively. Sixty-six cases (80.49%) were discharged with effective treatment, yet 14 cases (17.07%) suffered a failed treatment and 2 cases (2.44%) died.ConclusionsThe incidence of PCP infection was highest within the first 6 months after renal transplantation, and multiple infections tend to easily occured. Early diagnosis should be made in combined with clinical manifestations, laboratory and imaging examinations, and individualized treatment should be taken early.
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.