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。
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.
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.
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.
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 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 observe the effects of hydrogen peroxide on the expression of transforming growth factorβ1(TGF-β1) and Smad3 protein in A549 cells. Methods A549 cells were cultured with different concentrations of hydrogen peroxide. MTT assay was used to determine the cell growth and survival rates. The level of TGF-β1 and p-Smad3 protein were detected by western blotting. Results It was observed that hydrogen peroxide significantly inhibit proliferation of A549 cells. When the concentration of hydrogen peroxide was 1.0 mmol/L, the inhibition ratio reaches 46.34%, and the level of TGF-β1 and p-Smad3 protein were increased in a time-dependence manner and reached a peak after 24 h, then decreased a little but also remained at high level. Conclusions In the early oxidative damage, A549 cells express high level of TGF-β1 and p-Smad3 protein. It may be relevant to tissue repair and remodeling after lung injury.
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.
ObjectiveTo analyze the clinical characteristics of patients with tuberculous pleural effusion and malignant pleural effusion and explore the value of laboratory indexes of pleural effusion in the differential diagnosis of tuberculous pleural effusion and malignant pleural effusion.MethodsThe clinical data and laboratory indexes of pleural effusion of patients with tuberculous pleural effusion and patients with malignant pleural effusion hospitalized in West China Hospital of Sichuan University between January and December 2017 were analyzed retrospectively. Those examinations with statistical significance were selected to establish a binary logistic regression model for diagnosing malignant pleural effusion from tuberculous pleural effusion. Hosmer-Lemeshow test was used to assess the goodness of fit of the logistic model, and a receiver operating characteristic (ROC) curve was plotted to assess the diagnostic value of the model.ResultsThe average age of the 128 patients with tuberculous pleural effusion was (51.60±21.02) years, and the average age of the 164 malignant pleural effusion was (63.52±11.87) years. Patients with tuberculous pleural effusion were prone to getting symptoms of cough, expectoration, fever, chest pain and tightness in breathing, with statistical significance (P<0.05). The level of adenosine deaminase in patients with tuberculous pleural effusion was (23.06±21.29) U/L, higher than that in malignant pleural effusion; the difference was statistically significant (P<0.05). The levels of albumin, glucose, carbohydrate antigen (CA) 125, CA19-9, carcinoembryonic antigen (CEA) and cyto-keratin 19 fragment antigen 21-1 in patients with malignant pleural effusion were higher than those in patients with tuberculous pleural effusion (P<0.05). Logistic regression analysis showed that CA125, CEA and glucose were introduced to model as the main effect. The area under the ROC curve was 0.914 [95% confidence interval (0.864, 0.964)], with an improved diagnostic efficiency.ConclusionsThe clinical manifestations of tuberculous pleural effusion and malignant pleural effusion are multifarious with low specificity. A joint detection of CA125, CEA and glucose in pleural effusion and the joint diagnostic model can identify tuberculous pleural effusion and malignant pleural effusion better.