OBJECTIVE:A significant residual risk of myocardial infarction (MI) persists in hypertensive patients treated with angiotensin receptor blockers (ARBs). Conventional risk models often fail to capture the complex, nonlinear interactions among clinical phenotypes, comorbidities, and pharmacogenetic factors. METHODS:This retrospective cohort study included 1229 hospitalized hypertensive patients treated with ARBs. We analyzed 26 clinical variables and two key genetic polymorphisms: AGTR1 rs5186 and CYP2C9 rs1057910. A hybrid downsampling technique was employed to address severe class imbalance. Ten machine learning models were developed, with a focus on the interpretable deep learning model, TabNet. RESULTS:The TabNet model demonstrated superior predictive performance, achieving an area under the receiver operating characteristic curve (AUC) of 0.887 and a recall of 0.795 in the validation cohort. Model interpretation using Shapley Additive Explanations (SHAP) identified pre-existing coronary heart disease, hypertension stage, chronic heart failure, sex, hyperlipidemia, and the AGTR1 rs5186 polymorphism as the most significant predictors of MI. The CYP2C9 rs1057910 variant showed a risk-modifying interaction effect in patients with pre-existing coronary heart disease. CONCLUSION:An interpretable deep learning model integrating clinical and pharmacogenetic data effectively predicts MI risk in ARB-treated hypertensive patients. The AGTR1 rs5186 polymorphism is an independent predictor of MI, highlighting its potential as a prognostic biomarker. This clinico-pharmacogenetic approach offers a powerful tool for personalized risk stratification and may guide more targeted preventive interventions.

Thalassemia is among the most common inherited diseases worldwide. We aimed to analyze the genotype and frequency distribution of thalassemia in a general hospital in Beijing and provide a reference for genetic counseling and prenatal diagnosis. A total of 3196 cases of thalassemia screened at Peking Union Medical College Hospital (PUMCH) between January 2018 and January 2022 were collected. Thalassemia genotypes were tested using gap polymerase chain reaction (gap-PCR), PCR, reverse dot blot (RDB), and Sanger sequencing analyses. The pathogenicity of the rare variants was analyzed using bioinformatics approaches. Total of 1936 positive routine α/β-thalassemia were detected from 3196 blood samples, including 733 α-thalassemia variants, 1170 β-thalassemia variants, and 33 cases with concurrent α- and β-thalassemia variants. Two novel variants, HBA2:c.300+82G>C and HBB:codon85(-T), were identified in HBA2 and HBB genes, respectively, and were not detected in the ExAC, gnomAD, HbVar, and HGMD databases. The genotype distribution of thalassemia in a general hospital in Beijing is complex and heterogeneous. The novel variants in HBA2 and HBB are likely to underlie α/β-thalassemia in these patients.

Background:BK polyomavirus (BKV), a latent pathogen in immunocompromised individuals, poses significant risks in renal-associated diseases (RD). Methods:This study recruited 88 healthy control (HC) individuals and 271 patients with RD, including 96 connective tissue diseases with renal involvement (CTD-RI), 90 chronic kidney disease (CKD), 66 urological tumors (UT), 19 kidney transplantation (KT), at Peking Union Medical College Hospital from January 2020 to September 2021. The BKV-DNA qPCR detection kit was evaluated in terms of lowest detection limit, linear range, accuracy, precision, analytical specificity. Urine, serum, and plasma specimens from 17 UT patients were detected simultaneously to evaluate the detection sensitivity of various sample types. The positive rates and loads of BKV-DNA were compared among the various groups. The difference in immunosuppressants use between BKV-DNA positive and negative groups was compared in patients with CTD-RI. Furthermore, the correlations between BKV-DNA loads and the counts of lymphocyte subsets were explored in the CTD-RI group. Results:The BKV-DNA qPCR detection kit has satisfactory sensitivity, linear range, reproducibility, accuracy, and specificity to detect the presence and loads of BKV-DNA. Urine specimens are more sensitive for BKV-DNA detection than serum and plasma. The CTD-RI and UT groups had higher BKV-DNA positive rates (49.0% and 31.8%, respectively) and loads (median: 5.69 log10 copies/mL and 6.03 log10 copies/mL, respectively) compared to the HC group (positive rate 12.5%, load median 3.96 log10 copies/mL). Multivariate logistic regression analysis indicated that the use of mycophenolate mofetil (MMF) was associated with a reduced risk of BKV (odds ratio and 95% confidence interval: 0.27 (0.09-0.78), P=0.015). The trends toward negative correlations between the BKV-DNA loads and the counts of CD19+ B cells, CD4+CD28+ T cells, CD45RA+CD4+ T cells, and naive CD4+ T cells were observed. Conclusion:These findings support monitoring BKV-DNA in high-risk RD patients to guide immunosuppressant use and mitigate renal injury. Future long-term follow-up and multicenter large-scale cohort studies are necessary to further clarify the role of BKV in RD.

Background: Identification of gene polymorphisms and SNP analysis of individual patients have become crucial to select the best drug response and ensure optimal care, especially for genes directly related to asthma, such as CYSLTR1 and GSDML gene polymorphisms, an efficient and accurate detection method is helpful for the development of precision therapy. The novel detection kit we used has a reading accuracy of 99.999% for each base and the cost of detection is only 80 minutes. Objectives: In this study, a novel kit produced by Wuhan healthcare Biotechnology Co., LTD was used to detect CYSLTR1 and GSDML gene polymorphisms in asthma patients and the reliability of the novel kit was verified. Methods: The efficiency of the new kit was validated compared to gold standard, gene sequencing methods, and the close association of CYSLTR1 and GSDML SNPs with allergic asthma was also tested. As a result, the most effective drugs were obtained for patients with different gene locus expressions. Results: Identifying 367 publication participants for analysis by two different methods, we validated the reliability of the reagents with “gold standard” assays in full agreement with the DNA direct sequencing method. Our study focused on CYSLTR1 and GSDML gene polymorphisms to select the most effective drugs for asthma treatment, with leukotriene modulators being more effective in patients with the AA genotype of CYSLTR1 rs320995 and β2 agonists being more effective in patients with the TC genotype of CYSLTR1 rs320995.

Objective: To evaluate the diagnostic performance of aldo-keto reductase family 1 member B10 (AKR1B10) in a Beijing cohort with Methods: This study included 521 subjects who visited Peking Union Medical College Hospital from June 2017 to May 2023, including 109 cases of HCC, 165 cases of healthy controls, 106 cases of benign liver diseases, and 141 cases of other cancers. Serum AKR1B10 levels were measured and compared across various groups. Diagnostic performances of serum AKR1B10 and other tumor markers were assessed using receiver operator characteristic (ROC) curves. In addition, a subset of HCC patients who underwent surgical resection were recruited for clinical follow-up study. Results: We found that serum AKR1B10 expression was higher in patients with HCC relative to other control groups. The association between serum AKR1B10 and clinical features of HCC was not observed. Serum AKR1B10 showed a high diagnostic performance for HCC, and when combined with AFP, the diagnostic effectiveness was significantly improved. Specifically, serum AKR1B10 showed superior diagnostic effectiveness for AFP-negative HCC. The clinical follow-up study indicated a gradual decrease in serum AKR1B10 after surgery. Conclusion: Our study demonstrated that serum AKR1B10 is a promising biomarker for HCC, and when used in combination with AFP can significantly improve the detection rate of HCC.

Thalassemia is a hemoglobin disease characterized by reduced or complete absence of the production of the α/β globin gene. Currently, the detection of β-thalassemia carriers is based on differences in blood cell parameters. However, β-thalassemia carriers cannot be distinguished from α- and β-thalassemia co-inherited carriers based solely on hematological findings, and the differential diagnosis must rely on molecular diagnosis. We report a 32-year-old male from Yunnan Province, who had abnormal hemoglobin E without obvious anemia. A rare αCS (CD142, TAA→CAA) combined with a βE (CD26, GAG→AAG) double heterozygous mutation was identified in the proband by PCR-reverse dot blot (PCR-RDB) and DNA sequencing. Additionally, a family lineage analysis was performed. This study complements the spectrum of rare thalassemia gene variants and is critical for clinical genetic counseling.

BACKGROUND:Ureaplasma species are common pathogens of the urogenital tract and can cause a range of diseases. Unfortunately, there is still a scarcity of large-scale and cross-sectional studies on the prevalence of Ureaplasma species in China to clarify their epidemic patterns.METHODS:This study retrospectively analyzed the data of 18667 patients who visited Peking Union Medical College Hospital for showing various symptoms of (suspected) Ureaplasma species infection during the period 2013-2022. The overall prevalence of Ureaplasma species was calculated, and subgroup analyses were conducted in view of gender, age, specimen types, and diagnosis in every year within the period studied. Furthermore, previous literature that reported on the prevalence of Ureaplasma species in various regions of China was searched and summarized.RESULTS:The overall positive rate of Ureaplasma species in this study reached 42.1% (7861/18667). Specifically, the prevalence of Ureaplasma species was significantly higher in female patients, while the highest detection rate was found in the 21-50 age group. From 2013 to 2022, there were no significant differences in positive rates of Ureaplasma species among years. However, the detection rate of Ureaplasma species was decreased in COVID-19 period (2020-2022) compared to pre-COVID-19 period (2017-2019). In view of the distribution of patients, outpatients predominated, but the detection rate was lower than inpatients. Urine was the most common specimen type, while cervical swabs had the highest detection rate of Ureaplasma species. When grouped by diagnosis, the highest positive rate of Ureaplasma species was seen in patients with adverse pregnancy outcomes and the lowest rate in patients with prostate disease. The previous literature, although heterogeneous, collectively suggested a high prevalence of Ureaplasma species in China.CONCLUSIONS:Our study has shown that Ureaplasma species have reached a significant prevalence in China and demands adequate attention.

Abstract Objective The current study evaluated the diagnostic performance of serum (1,3)-beta-D Glucan (BDG) in differentiating PJP from P. jirovecii-colonization in HIV-uninfected patients with P. jirovecii PCR-positive results. Methods This was a single-center retrospective study between 2019 and 2021. The diagnosis of PJP was based on the following criteria: detection of P. jirovecii in sputum or BAL specimen by qPCR or microscopy; Meet at least two of the three criteria: (1) have respiratory symptoms of cough and/or dyspnea, hypoxia; (2) typical radiological picture findings; (3) receiving a complete PJP treatment. After exclusion, the participants were divided into derivation and validation cohorts. The derivation cohort defined the cut-off value of serum BDG. Then, it was verified using the validation cohort. Results Two hundred and thirteen HIV-uninfected patients were enrolled, with 159 PJP and 54 P. jirovecii-colonized patients. BDG had outstanding specificity, LR, and PPV for PJP in both the derivation (90.00%, 8.900, and 96.43%) and the validation (91.67%, 9.176, and 96.30%) cohorts at ≥ 117.7 pg/mL. However, it had lower sensitivity and NPV in the derivation cohort (89.01% and 72.97%), which was even lower in the validation cohort (76.47% and 57.89%). Of note, BDG ≥ 117.7 pg/mL has insufficient diagnostic efficacy for PJP in patients with lung cancer, interstitial lung disease (ILD) and nephrotic syndrome. And although lymphocytes, B cells, and CD4+ T cells in PJP patients were significantly lower than those in P. jirovecii-colonized patients, the number and proportion of peripheral blood lymphocytes did not affect the diagnostic efficacy of serum BDG. Conclusions Serum BDG ≥ 117.7 pg/mL could effectively distinguish P. jirovecii-colonization from infection in qPCR-positive HIV-uninfected patients with infectious diseases, solid tumors (excluding lung cancer), autoimmune or inflammatory disorders, and hematological malignancies. Of note, for patients with lung cancer, ILD, and nephrotic diseases, PJP should be cautiously excluded at BDG < 117.7 pg/mL.

Background: T-cell immunity is important for the control of cytomegalovirus (CMV) infection. The frequency of IFN-γ secreting T cells after stimulation with CMV-specific protein-1 (IE-1) and phosphoprotein 65 (pp65) antigen can help predict the risk of active CMV infection. Patients with autoimmune diseases have a high incidence of active CMV infection, but the CMV antigen-specific T cell immune response of this population is still blank in the world. This study aimed to use T-SPOT.CMV to investigate CMV antigen-specific T cell immune response in patients with autoimmune diseases under different CMV infection conditions. Methods: Patients with autoimmune diseases in the Peking Union Medical College Hospital from March, 2017 to October, 2020 were continuously selected. According to the definition, the subjects were divided into latent CMV infection group and active CMV infection group. T-SPOT.CMV was used to evaluate CMV antigen-specific T cell immune response under different CMV infection status, and the possible influential factors of CMV antigen-specific T cell immune response were further analyzed. Results: Fifty patients with latent CMV infection and fifty patients with active CMV infection were enrolled. After stimulated by immediate early IE-1 and pp65 antigen, the median frequency of IFN-γ secreting T cells in active CMV infection group were all significantly lower than that in latent CMV infection group (p<0.001), and in CMV disease group was significantly lower than that in latent CMV infection group (p<0.001). After stimulated by pp65, the median frequency of IFN-γ secreting T cells with CD4+ T cell counts < 200/ul was significantly lower than that of CD4+ T cell counts ≥ 200/ul (p=0.043), and those with CD8+ T cell counts < 250/ul was significantly lower than that of CD8+ T cell counts ≥ 250/ul (p=0.03). The frequency of IFN-γ secreting T cells stimulated by pp65 was significantly higher than IE-1. Conclusions: In patients with autoimmune diseases, the CMV antigen-specific T-cell immune response in patients with active CMV infection was significantly lower than that with latent CMV infection. IE-1 was considered as a more stable antigen with better effect than pp65. Lymphocyte, CD4+T cell and CD8+T cell count might affect CMV antigen-specific T cell immune response.

Objective:To determine the plasminogen activator inhibitor-1 (PAI-1) 4G/5G (rs1799889) genotype of the subjects in a robust detection method and to explore the association of the PAI-1 4G/5G polymorphism with susceptibility to diabetes mellitus (DM) and hypertension (HTN) as well as clinical characteristics.Methods:This study recruited 208 patients (68 patients were diagnosed with DM, 70 patients with HTN and 70 patients with DM combined with HTN) and 132 healthy controls (HC). A subset of the population was selected to evaluate the accuracy of the Real-time PCR (RT-PCR) method for detecting PAI-1 4G/5G polymorphism by using the sequencing method as the gold standard. Furthermore, the association of the PAI-1 4G/5G polymorphism with genetic susceptibility to DM and HTN was explored. Moreover, variations in clinical characteristics among individuals with various PAI-1 genotypes were also analyzed in the DM group, the HTN group and the DM+HTN group.Results:There was a high concordance between the RT-PCR method and the sequencing method in determining the PAI-1 4G/5G polymorphism. No association was observed between the PAI-1 4G/5G polymorphism and susceptibility to DM, HTN and DM+HTN, respectively. There were no statistical differences in all study indicators among individuals that carrying various genotypes in the HC group. There were several variations in clinical characteristics among individuals harboring different PAI-1 4G/5G genotypes in the DM group, the HTN group and the DM+HTN group.Conclusion:The RT-PCR method can accurately identify the PAI-1 4G/5G genotype in different individuals. The PAI-1 4G/5G polymorphism may not be associated with genetic susceptibility to DM, HTN and DM+HTN, but differences in clinical characteristics among individuals with various genotypes may provide a reference for disease assessment and personalized treatment of patients.

Background: TNF-α has been reported to be closely associated with autoimmune inflammatory diseases. This study aims to investigate the role of TNF-α -308(rs1800629) G/A gene polymorphisms as well as neutrophil-to-lymphocyte ratio (NLR) and platelet-to-lymphocyte ratio (PLR) in predicting the efficacy and safety of TNF inhibitors (TNFi) in patients with ankylosing spondylitis (AS), rheumatoid arthritis (RA), and psoriasis arthritis (PsA).Methods: A total of 515 subjects (181 AS, 144 RA, 48 PsA, 10 hyperbilirubinemia, 10 hyperlipidemia and 122 healthy control) were recruited in this study. The accuracy of RT-PCR methods for identifying individual TNF-α -308 genotypes was assessed using sequencing as the gold standard. Baseline NLR and PLR of patients with AS, RA and PsA and healthy controls (HC) were calculated and compared. Meanwhile, differences between responders and non-responders to TNFi treatment as well as between individuals with and without adverse effects (AE) among responders were compared.Results: The RT-PCR method is stable and reliable for TNF-α -308G/A gene polymorphism analysis, independent of sample status. The GG genotype was overwhelmingly represented, with relatively few GA genotype, whilst the AA genotype was not detected in this study. There was no observed association between TNF-α-308G/A polymorphism and susceptibility in AS, RA or PsA patients. Patients with AS, RA, and PsA had a higher NLR, compared to the HC group. Apart from PsA patients, AS and RA patients had a higher PLR, compared to the HC group. NLR was positively correlated with PLR. Furthermore, a lack of response was more frequently observed in AS and RA patients that carrying the GA genotype than the GG genotype. AS and RA patients with AE had higher NLR and PLR, compared with the non-AE group.Conclusion: Our study preliminarily shown that combining TNF-α -308G/A polymorphisms with NLR and PLR can predict the responsiveness and safety of anti-TNF therapy in patients with AS or RA.

Objective To evaluate a Zika virus(ZIKV) test based on real-time reverse-transcriptase-polymerase chain reaction (rRT-PCR) that can be performed without RNA isolation. Methods The detection method is based on rRT-PCR technology, and a virus-enrichment method is used for sample processing. The sample processing procedure is: Add 112-224 μL sample treatment solution Ⅰ and 5-10 μL sample treatment solutionⅡ to 100-200 μL clinical samples, vortex and then centrifuge at a speed of 12 000 r/min and a centrifugation radius of 8.6 cm for 5 minutes. After centrifugation, discard the supernatant, add 20 μL of solution to resuspend the precipitate, and then add 10 μL of the resuspended precipitate into the PCR reaction solution(50 μL) for detection. The performance of the assay was evaluated from the aspects of the lower limit of detection, cross reactions, interfering substances and precision. Clinical samples (serum, urine and saliva samples) were collected from the Clinical Laboratory of Peking Union Medical College Hospital, and 1/5 of these samples were randomly selected to simulate clinical samples of ZIKV infection to further evaluate the performance of the method. Results The lower limit of detection(LOD) of the ZIKV assay for MR766 and ZKC2/2016 strains was 101 50% tissue culture infective dose(TCID50)/mL. A panel of 17 potential cross substances was tested and no cross-reactivity was detected. Potential interfering substances including bilirubin (15 mg/L), hemoglobin (100 mg/L), triglycerides (2000 mg/L), IgG (37.5 g/L) and EDTA-Na2(2.5 g/L) were evaluated and no obvious interference was observed. The intra-lots and inter-lots variations that were measured by coefficient of variation (CV), were lower than 10%. A total of 344 clinical samples from the Clinical Laboratory of Peking Union Medical College Hospital were collected; 73 simulated clinical samples of ZIKV infection were constructed. The detection results of 344 samples by this method were consistent with the expected results without false positives and false negatives. Conclusions The detection method for ZIKV has good specificity and repeatability. The detection results are not affected by interfering substances. The LOD meets clinical requirements, and the operation is simple. It can be used as a backup diagnostic tool for ZIKV and it needs to be further verified in real clinical samples.

Background and Objective:Asthma and allergic rhinitis have been reported to be strongly associated with genetic factors. The aim of this study was to evaluate the accuracy of the TaqMan-MGB (minor groove binder) qPCR method for detecting CYSLTR1 rs320995 (T927C) and GSDMB rs7216389 (G1199A) gene polymorphisms as well as to explore the association of CYSLTR1 rs320995 and GSDMB rs7216389 polymorphisms with genetic susceptibility of Chinese patients with asthma and allergic rhinitis.Methods:In this study, 310 asthmatic patients and 60 healthy individuals were recruited in Peking Union Medical College Hospital. The CYSLTR1 rs320995 (T927C) and GSDMB rs7216389 (G1199A) gene polymorphisms in each group were analyzed by TaqMan-MGB qPCR and DNA sequencing which was regarded as the gold standard. After the validation of this method, additional 71 patients with allergic rhinitis and 72 patients with asthma combined with allergic rhinitis were selected and tested by using TaqMan-MGB qPCR.Results:The TaqMan-MGB qPCR results were fully consistent with DNA sequencing results (Kappa = 1, P<0.001). In addition, the results of the TaqMan-MGB qPCR assay were not affected by bilirubin and lipids. We found differential distribution of CYSLTR1 rs320995 genotypes in female patients with asthma combined with allergic rhinitis (χ 2=6.172, P=0.046, statistical power = 0.591). Specifically, the TT genotype is more frequent in women suffering from asthma with allergic rhinitis, whereas the TC genotype is more prevalent in healthy women. However, no such associations were observed in the GSDMB rs7216389 polymorphism.Conclusion:We have established a reliable TaqMan-MGB qPCR method for the detection of CYSLTR1 rs320995 and GSDMB rs7216389 polymorphisms. Moreover, the CYSLTR1 rs320995 polymorphism may be associated with genetic susceptibility of Chinese female patients with asthma and allergic rhinitis. Multicenter studies with larger sample sizes are required in the future.

Background: Venous thromboembolism (VTE) is a life-threatening cardiovascular syndrome that characterized by the imbalance of hemostasis and thrombosis and the formation of thrombi in the blood vessels. The aim of this study was to elucidate the clinical impact of the PAI-1 4G/5G polymorphism in Chinese patients with VTE. Methods: A total of 169 subjects (89 VTE, 10 hyperbilirubinemia, 10 hyperlipidemia and 60 healthy controls) were recruited at Peking Union Medical College Hospital. The accuracy of the TaqMan-MGB RT-PCR method for detecting F5 G1691A (FVL) and PAI-1 4G/5G polymorphisms was evaluated by using sequencing method as the gold standard. Besides, the association of the PAI-1 4G/5G polymorphism with susceptibility, treatment efficacy and recurrence status of VTE in Chinese population were explored. Eventually, the plasma PAI-1 antigen levels and PAI-1 4G/5G polymorphisms were determined on additional 64 subjects (32 VTE and 32 healthy controls) simultaneously. Results: The TaqMan-MGB RT-PCR method was proven to be highly accurate in determining the FVL and PAI-1 4G/5G polymorphisms without interference from bilirubin and lipids in the samples. No obvious correlation of the PAI-1 4G/5G polymorphism with VTE was observed in our study by using five genetic models (allele, genotype, dominant, recessive and additive). Additionally, we also observed that individuals with the 4G/5G genotype had lower neutrophil counts and neutrophil-to-lymphocyte ratio (NLR) than the 5G/5G genotype. Furthermore, we found that the patients with the 5G/5G genotype were more likely to achieve complete recanalization compared to the 4G/4G genotype. In addition, individuals carrying the 5G/5G genotype were more likely to develop a recurrence-free status as compared to individuals with the 4G/4G or 4G/5G genotypes. PAI-1 antigen levels in the VTE group were significantly higher than those in the HC group. However, there was no significant difference in the antigen levels of PAI-1 among subjects carrying various genotypes in the VTE group or HC group. Conclusion: The PAI-1 4G/5G polymorphism has potential value in assessing the prognosis of Chinese patients with VTE. Our study has laid the foundation for the application of PAI-1 4G/5G polymorphism in the personalized management and monitoring of patients with VTE.

BACKGROUND Spinal muscular atrophy (SMA) is a neuromuscular disease mainly caused by the absence of both copies of the survival motor neuron 1 (SMN1) gene. Multiple regions recommended population-wide SMA screening to quantify the copy number of SMN1. SMN1 diagnostic assays for the simplified procedure, high sensitivity, and throughput continue to be needed. METHODS Real-time PCR with high-resolution melting for the quantifying of the SMN1 gene exon 7 copies and exon 8 copies were established and confirmed by multiplex ligation-dependent probe amplification (MLPA). The diagnosis of 2563 individuals, including SMA patients, suspected cases, and the general population, was tested by real-time PCR. The results were compared with the gold standard test MLPA. RESULTS In this study, the homozygous and heterozygous deletions were detected by real-time PCR with a high-resolution melting method with an incidence of 10.18% and 2.26%, respectively. In addition, the R-value distribution (P > 0.05) among 8 replicates and the coefficient of variation (CV < 0.003) suggested that the real-time PCR screening test had high reproducibility. High concordance was obtained between real-time PCR with high-resolution melting and MLPA. CONCLUSIONS The real-time PCR based on high-resolution melting provides a sensitive and high-throughput approach to large-scale SMA carrier screening with low cost and labor.

目的 探究北京协和医院诊治的疑似性传播疾病(sexually transmitted diseases,STD)患者沙眼衣原体(Chlamydia trachomatis,CT)、解脲支原体(Ureaplasma urealyticum,UU)、生殖支原体(Mycoplasma genitalun,MG)及淋病奈瑟球菌(Neisseria gonorrhoeae,NG)感染情况,旨在为临床诊治提供依据.方法 回顾性收集2013年1月—2018年12月北京协和医院疑似STD患者的送检标本(包括尿液标本及生殖道拭子标本).采用实时荧光核酸恒温扩增检测技术检测样本中CT、UU、MG、NG,并计算其阳性率.结果 2013—2018年,共接收CT、UU、MG、NG检测标本12804份.4种病原体阳性率由高至低依次为UU(42.88％,4833/11271)、CT(8.43％,905/10739)、MG(5.44％,231/4246)、NG(3.78％,338/8932);合并感染以UU+CT(4.13％,402/9725)、UU+MG(1.98％,74/3745)较常见.女性患者UU阳性率均高于同年龄段男性患者,CT、NG、MG阳性率低于同年龄段男性患者.除女性患者NG、UU单一感染外,4种病原体单一感染率及合并感染率(UU+CT、UU+MG)均以≤20岁患者最高.NG、MG阳性率整体呈下降趋势,CT、UU阳性率呈小范围波动.男性患者中,尿道拭子标本NG阳性率明显高于尿液标本(12.37％ 比5.27％,P<0.001);女性患者中,宫颈拭子标本UU阳性率明显高于尿液标本(61.78％ 比54.74％,P<0.001),CT阳性率低于尿液标本(6.16％ 比7.73％,P=0.022).结论 2013—2018年北京协和医院诊治疑似STD患者中,4种常见病原体阳性率由高至低依次为UU、CT、MG、NG;UU+CT、UU+MG是常见的合并感染类型;≤20岁患者病原体阳性率较高;不同类型标本中病原体检出率存在差异.

珠蛋白生成障碍性贫血是由于珠蛋白基因缺失 或突变导致珠蛋白肽链合成障碍的一种溶血性贫血,其属于单基因遗传病,具有严重的危害性,可分为α-珠蛋白生成障碍性贫血和β-珠蛋白生成障碍性贫血[1].该病广泛分布于世界各地,全球约有 5.00％的人口是α-珠蛋白生成障碍性贫血的携带者,其中东南亚为高发区之一,在我国多见于南方地区,北方少见[2-4].血红蛋白 H 病(HbH)属于α-珠蛋白生成障碍性贫血的中间型,分为缺失型 HbH 病和非缺失型HbH 病.非缺失型 HbH 病是 2 个α基因缺失和1 个α基因突变,结果只能合成少量正常α珠蛋白肽链,与多余的β链聚合形成异常的 HbH 四聚体(β4),研究显示非缺失型 HbH 病比缺失型 HbH 病的临床症状表现更为严重[5-6].本研究对本院 1 例非缺失型HbH 病复合β-珠蛋白生成障碍性贫血孕妇的血液学特征和基因型进行分析,补充了复杂少见珠蛋白生成障碍性贫血基因类型的数据.此外,为临床咨询和产前干预提供依据,对降低珠蛋白生成障碍性贫血的发病率、促进优生优育具有重要意义[7].

OBJECTIVE:Human papillomavirus (HPV) infection, especially with high-risk HPV (HR-HPV) genotypes, is closely associated with cervical cancer. This study aimed to observe the epidemiological characteristics of HPV infection among healthy women in Beijing, China. MATERIALS AND METHODS:Cervical specimens were collected from 29,436 healthy women, who underwent health check-ups in Peking Union Medical College Hospital between 2016 and 2019. A commercial kit was used for the detection of 15 HR-HPV and two low-risk HPV (LR-HPV) genotypes. RESULTS:A total of 3586 (12.18%) participants tested positive for HPV, 3467 of which were infected with HR-HPVs. The most prevalent genotypes were HPV52, 58, 16, 51, and 56. Moreover, while infection with a single genotype (9.84%) was more prevalent, HPV16+52 was the most common combination in those infected with multiple HPVs. Furthermore, the highest infection rate among age groups was in women aged <25 years (20.92%). No significant difference in the prevalence was observed from 2016 to 2019. However, HPV incidence in Beijing was significantly different than that in all other areas in China, except for Zhengzhou (p < 0.05). CONCLUSION:Our findings could serve as potential reference for better understanding of the epidemiological characteristics of HPV infection in Beijing.

Reflex tests are ordered when a particular test result indicates that additional testing should be performed according to the guidelines or the feedback process formulated by clinical consultation. The application scope of the reflex tests involves various subspecialties of laboratory medicine. The clinical application needs the support of qualified laboratory doctors, comprehensive information and financial system, clinical guidelines, and so on. Active application of reflex tests can promote the standardization of evidence-based medicine in clinical practice, save medical resources, and shorten the diagnosis and treatment time of patients.

The dual-target stool DNA test, iColocomf, has potential utility for colorectal cancer (CRC) detection, but its clinical accuracy has not been validated on larger groups. We therefore evaluated the performance of iColocomf in a multicenter clinical trial. In this double-blinded case-control study, 1164 participants from three independent hospitals, including 320 CRC patients, 148 adenomas, 396 interfering diseases, and 300 healthy controls were enrolled. The primary indicators of sensitivity, specificity, and accuracy were estimated. Stool samples of participants were collected and tested by the assay. The test results were then verified by Sanger sequencing and retesting of resected participants. The sensitivity and specificity for CRC detection were 95.31% and 96.67%, respectively, with an accuracy of 90.29%. When combining the interfering diseases, the specificity was 88.39%. No statistically significant variations of positive detection rates were observed for the test in different patients' clinical features. For advanced adenomas (n = 38) and nonadvanced adenomas (n = 110), the sensitivities were 63.16% and 33.64%, respectively. The average accuracy was 99.62% for the methylation status of 375 samples verified by Sanger sequencing, and 94.12% for 34 participants who received the test after surgical resection. The iColocomf test showed robust performance for the early detection of colorectal cancer and potential monitoring ability in clinical practice.