Immune imbalance plays a key role in the pathogenesis of ulcerative colitis (UC). The changes in CD4+ T cells and Treg cells in colonic T cells have an important relationship with UC. It is of great significance to elucidate the functional characteristics of CD4 cells and regulatory T (Treg) cells in UC patients. This study aimed to inquire into changes in functional markers of CD4 T cells and Tregs, including Helios, Bcl6, CTLA-4, CD226, TIGIT, PD-1 and ICOS. DSS-induced colitis was established in Balb/c mice and lymphocytes from spleen, mesenteric lymph nodes (MLNs), peripheral blood, and colon tissue were obtained. CD4+ T cells and Tregs were analyzed by flow cytometry. We found that Helios+ and Bcl-6+ proportions were increased in colonic CD4+ cells of DSS-induced colitis mice. CD4+FoxP3+CXCR5- Tregs were significantly elevated in the colon of colitis mice, with CTLA-4+ percentages increased. Naïve subsets in colonic CD4 and Tregs were significantly reduced, while effector T-cell subsets were increased in colitis mice. TIGIT+ and CD226+ percentages were significantly increased in both colonic CD4+ cells and Tregs of colitis mice. Both PD-1+ and ICOS+ percentages in colonic CD4 cells and the ICOS+ percentage in colonic Tregs were significantly increased in colitis mice. In conclusion, functional molecules related to CD4+ T cells and Tregs in colonic T cells are altered in UC, often adopting an activated phenotype. These changes may be associated with the pathogenesis of UC and could potentially serve as clinical therapeutic targets.

The SLC26A4 gene is the second most common cause of hereditary hearing loss in human. The aim of this study was to utilize the minigene assay in order to identify pathogenic variants of SLC26A4 associated with enlarged vestibular aqueduct (EVA) and hearing loss (HL) in two patients. The patients were subjected to multiplex PCR amplification and next-generation sequencing of common deafness genes (including GJB2, SLC26A4, and MT-RNR1), then bioinformatics analysis was performed on the sequencing data to identify candidate pathogenic variants. Minigene experiments were conducted to determine the potential impact of the variants on splicing. Genetic testing revealed that the first patient carried compound heterozygous variants c.[1149 + 1G > A]; [919–2 A > G] in the SLC26A4 gene, while the second patient carried compound heterozygous variants c.[2089 + 3 A > T]; [919–2 A > G] in the same gene. Minigene experiments demonstrated that both c.1149 + 1G > A and c.2089 + 3 A > T affected mRNA splicing. According to the ACMG guidelines and the recommendations of the ClinGen Hearing Loss Expert Panel for ACMG variant interpretation, these variants were classified as “likely pathogenic”. This study identified the molecular etiology of hearing loss in two patients with EVA and elucidated the impact of rare variants on splicing, thus contributing to the mutational spectrum of pathogenic variants in the SLC26A4 gene.

BACKGROUND Long noncoding RNA (lncRNA) ZNFX1-AS1 (ZFAS1) is a newly discovered lncRNA, but its diagnostic value in gastric cancer is unclear. AIM To investigate the potential role of ZFAS1 in gastric cancer and to evaluate the clinical significance of ZFAS1 as a biomarker for gastric cancer screening. METHODS Quantitative real-time polymerase chain reaction (qRT-PCR) was used to screen for gastric cancer-associated lncRNAs in gastric cancer patients, gastric stromal tumor patients, gastritis or gastric ulcer patients, and healthy controls. Correlations between ZFAS1 expression and clinicopathological features were analyzed. The biological effects of ZFAS1 on the proliferation, migration, and invasion of gastric cancer cells were studied by MTT, colony formation, and transwell mi-gration assays. The potential mechanism of ZFAS1 was demonstrated using enzyme-linked immunosorbent assay and qRT-PCR. The relationship between ZFAS1 and tumorigenesis was demonstrated using in vivo tumor formation assays. RESULTS The plasma level of lncRNA ZFAS1 was significantly higher in preoperative patients with gastric cancer than in individuals in the other 4 groups. Increased expression of ZFAS1 was significantly associated with lymph node metastasis, advanced TNM stage, and poor prognosis. ZFAS1 regulated the proliferation, migration, and invasion of gastric cancer cells and regulated the growth of gastric cancer cells in vivo. LIN28 and CAPRIN1 were identified as key downstream mediators of ZFAS1 in gastric cancer cells. CONCLUSION LncRNA ZFAS1 promoted the invasion and proliferation of gastric cancer cells by modulating LIN28 and CAPRIN1 expression, suggesting that ZFAS1 can be used as a potential diagnostic and prognostic biomarker in gastric cancer.

Objective:To analyze CYP2C9 and VKORC1 gene polymorphisms in Chinese Han population and their correlation with the maintenance dosage of warfarin.Methods:From October 2017 to April 2018, 458 Chinese Han patients (213 males and 245 females, aged from 26 to 94 years old) who underwent coagulation analysis in Peking University People′s Hospital were included in this retrospective study. PCR-Fluorescent probe method was applied to detect CYP2C9*3 and VKORC1-1639A>G gene polymorphisms in 458 patients, and among them, 130 patients who took warfarin for anticoagulant therapy and reached the international standard ratio of prothrombin time (INR) within the range of 2.0-3.0 were recorded. The basic information, dosage of warfarin and INR were also recorded. The statistical analysis data were compared with the reference table of recommended dosage of warfarin for different genotypes of patients recommended by FDA and the formula of predicted dosage of warfarin was simply verified by SPSS.Results:Among the 458 patients who took anticoagulant therapy, the genotype frequencies of CYP2C9*1/*1(AA), CYP2C9*1/*3(AC) and CYP2C9*3/*3(CC) were 90.8%, 8.5%, and 0.7%; the genotype frequencies of VKORC1-1639GG and VKORC1-1639AG were 0.9% and 14.2%; the genotype frequencies of VKORC1-1639AA was 84.9%. After INR was reached, the results showed that the variant CYP2C9*1/*3 and CYP2C9*3/*3 required lower daily maintain dosage [(2.92±1.29) mg] than wild-type CYP2C9*1/*1 patients did [(3.91±1.63) mg], with statistically significant difference ( P=0.018). And variant VKORC1-AA required lower daily maintain dosage [(3.68±1.64) mg] than variant VKORC1-AG patients did [(4.54±1.29) mg], with statistically significant difference ( P=0.001). The application dosage of warfarin in patients with different VKORC1+CYP2C9 genotypes was consistent with the recommended dosage of the FDA reference table. The prediction accuracy of miao 2007 formula was lower than that of IWPC formula, and 94.1% of patients′ dosages of warfarin were underestimated. Conclusion:Patients with CYP2C9*3 or VKORC1-AA genotype required lower warfarin dosage. The CYP2C9 and VKORC1 gene polymorphisms had a certain correlation with maintenance dosage of warfarin.

Objectives: To explore the association between single-nucleotide polymorphisms (SNPs) in MTHFR and APOE and the risk of CAD and, more importantly, the severity of CAD and the profile of serum lipids, we performed a case-control study in a Chinese Han population. Methods: A total of 1,207 cases of consecutive CAD-suspected inpatients were recruited, and 406 CAD cases and 231 non-CAD controls were enrolled for the final analysis after screening for exclusion criteria. All subjects had undergone coronary angiography, and the severity of CAD was evaluated by 2 cardiologists according to the Gensini scores. The genotypes of MTHFR and APOEwere detected using real-time PCR, and then verified by Sanger sequencing. Environmental risk factors, such as age, sex, smoking, alcohol consumption, hypertension, diabetes, dyslipidemia, and BMI were collected. Statistical analyses (the χ2 test, binary logistic regression analysis, and ordinal polytomous logistic regression analysis) were performed with SPSS v16.0. Results: The genotypes ofall the subjects included in the CAD and non-CAD groups in this study were successfully detected, with an agreement of 100% with Sanger sequencing. The distributions of genotypes CT and TT at MTHFR C667T were higher in CAD cases than in non-CAD controls (OR 1.99, 95% CI 1.34–2.95; OR 1.77, 95% CI 1.18–2.67; p < 0.05), whereas genotype AC at MTHFR A1298Cwas lower in CAD cases (OR 0.71, 95% CI 0.50–1.02; p < 0.05). A significant association was observed in genotypes CT and TT at MTHFR C667T and the risk of CAD (OR 1.44, 95% CI 1.27–3.67; OR 1.56, 95% CI 0.88–2.78; p < 0.05). Both genotypes and alleles of APOE were comparable in the CAD cases and non-CAD controls (p > 0.05). The genotype TT at MTHFR C667T and ε4+ at APOE were more likely to be found in the CAD subgroup with a Gensini score ≥72 (p = 0.040 and p = 0.028, respectively). Meanwhile, in the patients with genotype TT,a higher level of serum Hcy was detected, while genotype ε4+ patients possessed higher levels of serum apolipoprotein E (ApoE) and low-density lipoprotein cholesterol (LDL-C) than other genotypes. Conclusion: This study revealed that the SNP site of MTHFR C667Tis associatedwith the risk of CAD in this Chinese Han population. In addition, the genotypes of TT in MTHFR C667T and ε4+in APOE may increase the severity of CAD, and higher Hcy, LDL-C, and ApoE levels may be involved in this pathogenic process.

Objective To determine the distribution of common deafness gene mutations by microarray-PCR in pregnant women of Beijing, then explore their prevalence and clinical significance. Methods Totally 1709 pregnant women were prospectively enrolled from the outpatients of Obstetrical Clinical from Peking University Peoples' Hospital in this study from June 2016 to April 2018. Peripheral blood samples were obtained and DNA templates were extracted from all subjects. The coding region of the GJB2 gene(35del G, 235delC, 176-191del16, 299-300delAT), SLC26A4 gene(IVS7-2 A>G, 2168A>G), 12sRNA gene(1494C>T,1555A>G) and GJB3 gene(538 C>T)were detected by microarray-PCR. Meanwhile,256 cases firstly recruited in this study were confirmed by Sanger sequencing. The analysis was performed to explore the distribution of deafness gene mutations and the subjects detected to be positive were further followed up until they had given birth to their babies.Results Among 1709 pregnant women, 89 cases were found to be carrying at least one mutation sites(5.21％).Among them,83 cases were heterozygous mutation(35 cases of GJB2235delC, 12 cases of GJB2299-300delAT mutation, one case of GJB2176-191del 16, 30 cases of SLC26A4 IVS 7-2 A>G, 3 cases of SLC26A42168 A>G and two cases of GJB3538 C>T). There were one case of 235delC homozygous mutation and 2 cases of double mutations(IVS7-2 A>G /GJB2299-300delAT, IVS7-2 A>G/GJB2235delC). The positive rate of 235delC, 299-300delAT and 176-191del16 was 2.17％, 0.76％and 0.06％, respectively. As to SLC26A4, 1.87％of the pregnant women were carrying IVS 7-2 A>G and 0.18％for 2168 A>G. Two cases were detected carrying GJB3 C>T mutation and three for 12s RNA1555 A>G mutation, respectively. The results of microarray-PCR were identical to those of Sanger sequencing, with the coincidence of 100％.26 spouses of the 56 cases were followed up. Two proved to be carrier of the same gene mutation. One of their babies was born with normal hearing until the end of this research, while another baby was born deafness and implant cochlear when three month old. Conclusions GJB2235delC and SLC26A4 IVS 7-2 A>G were the most prevalent mutations in pregnant women of Beijing, and it may provide guidance to eugenics and early clinical intervention.

Objective The single nucleotide polymorphisms (SNPs) of APOE and SLCO1B1 were examined to explore their association with the risk and severity of coronary heart disease(CAD). Methods A total of 1267 cases of consecutive coronary heart disease (CAD)-suspected inpatients visiting department of Cardiology in Peking University Peoples' Hospital from March 2017 to november were recruited into this case-control study, and then 391 CAD cases and 223 non-CAD controls were enrolled for final analysis after screening by coronary angiography and exclusion criteria. The severity of the CAD cases were evaluated according to Gensini scores. The SNPs of APOE(388T>C, 526C>T) and SLCO1B1(388A>G, 521T>C) were detected using Real-time PCR and further verified using Sanger sequencing. Environmental risk factors were collected, and the correlations between SNPs of APOE and SLCO1B1 and the risk and severity of CAD were performed by SPSS version 16.0. Results The SNPs of all the subjects included in CAD group and non-CAD group were successfully detected, with an accordance of 100％ to Sanger sequencing. The distribution of APOE and SLCO1B1 gene were subjected to Hardy-Weinberg. The distributions of APOE gene ε3/ε3 genotypes and ε3 allele were most commonly found in both CAD group and non-CAD group (ε3/ε3: 70.8％,73.1％;ε3: 83.5％,85.2％;respectively). APOE genotypes and alleles were comparable between the CAD cases and non-CAD controls (P>0.05). The frequencies of APOE gene ε4+genotype were more likely to be found in the subgroup of CAD with Gensini score≥72 (P<0.05). The distributions of SLCO1B1 gene *1b/*1b genotypes and *1b allele were most commonly found in both CAD group and non-CAD group (*1b/*1b: 37.3％, 36.8％; *1b: 60.1％, 61.7％; respectively). There was no significant difference in genotype and allele frequencies of SLCO1B1 between the two groups and among subgroups with different severity of CAD (P>0.05). Conclusion This study observed no association between SNPs of APOE, SLCO1B1 and the risk of CAD in this population. However, APOE gene ε4 +genotype may increase the severity of CAD.

Objective To investigate germline mutation of breast cancer susceptibility genes BRCA1/2,TP53 and PTEN in Chinese breast cancer patients. Methods All of128 female breast cancer patients in Peking University People′s Hospital from January 2016 to August 2018 were selected as objects. Among them,44 cases were sporadic breast cancer and 84 werebreast cancer patients with genetic high risks. Germline mutations of BRCA1,BRCA2,TP53 and PTENwere detected by NGS.χ2 test was used to analyze the difference of pathogenic mutation rates between sporadic breast cancer group and breast cancer with high genetic risks.Groups were divided according to the clinical features of the patients(family history, triple-negative breast cancer,age and bilateral breast cancer).Among them,there were 42 cases with family history of breast cancer,34 cases of triple-negative breast cancer,33 cases of early-onset breast cancer and 7 cases of bilateral breast cancer. Fisher′s exact probability test compared the relationship between pathogenic mutations of BRCA1/2 gene and clinical characteristics of breast cancer patients with hereditary risk factors. Results In 128 cases of breast cancer,30 germline mutations of BRCA1/2 were detected, including 13 pathogenic mutations and 3 newly discovered mutations(BRCA1:c. 4760C>G,BRCA2:c. 44134414del and BRCA2:c. 64826485del). The new mutations may be unique mutations of Chinese population. There were 3 cases of TP53 mutations,including 1 pathogenic mutation. All of the 3 mutations were found in early-onset breast cancer. Germline mutation of T53 has important detection significance for early-onset hereditary breast cancer. There were 5 cases of PTEN mutations,including 3 pathogenic mutations. Among 84 breast cancer patients with genetic high risks,the carry mutation rate was 40.5％(34/84)and the pathogenic mutation rate was 15.4(13/84). Among 44 sporadic cases,the carry mutation rate was 9％(4/44). The pathogenic mutation rate was 6.8％(3/44). Breast cancer susceptibility genes were carried at a higher rate in breast cancer patients with genetic high risks(P<0.001). BRCA1/2 mutations did not show statistical differences among groups of breast cancer patients with hereditary high risk factors . Conclusion Germline mutation detection of breast cancer susceptibility genes by next-generation sequencing is of great significance in breast cancer risk prediction and prognosis evaluation.

Abstract Warfarin is the most common oral anticoagulant. Because of a narrow therapeutic range, interindividual differences in drug responses, and the risk of bleeding, there are many challenges in using warfarin. We need to predict the warfarin maintenance dose. However, ethnic-specific algorithms may be required, and some Chinese algorithms do not perform adequately. Therefore, we aimed to establish a Han Chinese appropriate algorithm. We recruited a study group consisting of 361 Han Chinese patients receiving warfarin treatment who had heart valve replacements. Genotyping of 38 single nucleotide polymorphisms (SNPs) in 13 candidate genes was carried out using the MassARRAY. In the derivation cohort, a multiple linear regression model was constructed to predict the warfarin dosage. We evaluated the accuracy of our algorithm in the validation cohort and compared it with the other 5 algorithms based on Han Chinese and other races. We established a Han Chinese-specific pharmacogenetic-guided warfarin dosing algorithm. Warfarin maintenance dosage (mg/day) = 1.787 − 0.023 × (Age) + 1.151 × (BSA [m2]) + 0.917 × (VKORC1 AG) + 4.619 × (VKORC1 GG) + 0.595 × (CYP4F2 TT) + 0.707 × (CYP2C19 CC). It explained 58.3% of the variance in warfarin doses in Han Chinese patients and was superior to the other 5 algorithms. The ability of the 6 algorithms which estimate the required dose correctly was tested. Our model had a mean absolute error of 0.74 mg/day, the other 5 models have mean absolute error of 0.81 mg/day,1.05 mg/day, 1.24 mg/day, 1.18 mg/day, and 0.85 mg/day, respectively. Our model had a mean percentage error of 26.9%, the other 5 models have the mean percentage error of 27.7%, 27.2%, 52.3%, 45.7%, and 29.3%, respectively. Physicians can not adopt algorithm from other race directly to predict warfarin dose in patients with heart valve replacements, they should establish a new algorithm or adjust another algorithm to fit their patients. The algorithm established in this study has the potential to assist physicians in determining warfarin doses that are close to the appropriate doses.

Objective To investigate the clinical characteristics of the human Adenovirus (HAdv) infections in allogeneic hematopoietic stem cell transplantation ( allo-HSCT) patients and explore the clinical significance of HAdv monitoring .Methods A total of 845 cases underwent allo-HSCT were included retrospectively in Perking University People′s Hospital from October 2012 to August 2014.Peripheral blood HAdv load were monitored twice weekly within 100 days after allo-HSCT, or whenever necessary quantitatively by real-time PCR. Meanwhile, other clinical samples such as stool , urine, and bronchoalveolar lavage fluid ( BLAF ) were also detected qualitatively whenever necessary .The follow-up period was at least six months after allo-HSCT.All clinical data were collected and analyzed .Results The total positive rate of HAdv was 3.4% ( 29/845 ) .The incidence of HAdv infection was higher in children [3.8%(6/155), <18y] than that of adults [3.3%(23/690),≥18y].HAdv infection diagnosed within 100 days after allo-HSCT accounted for 72.4%(21/29) of the total number of positive cases .There were 19 cases detected positive in peripheral blood , 16 cases in stool , 9 cases in urine , and 1 cases in BLAF , respectively.One patient was positive in peripheral blood , stool and urine.The overall median time of HAdv was 69 (13-189) d.The median time was 56 (53 -144) d in stool ,which was earlier than that of in peripheral blood , urine and stool.Among 29 cases of HAdv positive patients , 17 patients were coinfected with Cytomegalovirus(CMV) and 11 casess with Epstein-Barr virus(EBV).Twenty-five cases of HAdv were diagnosed with acute graft-versus-host disease(aGVHD) before HAdv infection, and 4 cases were diagnosed with chronic graft-versus-host disease ( cGVHD ) . The most common clinical manifestation was HAdv enteritis (14 cases), followed by hemorrhagic cystitis (7 cases).Two cases complicated with multiple organ injury ( >2 ) clinically, 1 cases with pneumonia.There were 8 cases of death at the end of follow-up.Conclusions HAdv is an important pathogen causing infection in patients after allo-HSCT. The infenction is characterized with multiple organ involvement .CMV and EBV coinfection is common .HAdv monitoring was of great significance in allo-HSCT patients.

Background Colonoscopy can assess disease activity and severity of ulcerative colitis (UC) accurately, but it is invasive and costly. Role of noninvasive biomarkers of intestinal inflammation in evaluation of patients with UC is not well understood. In this study, we assessed fecal eosinophil cationic protein (FECP), fecal myeloperoxidase (FMPO), and fecal calprotectin (FC) as surrogate markers of disease activity and severity in patients with UC, and then evaluated effect of the combination of these markers. Methods Sixty‐three UC patients and 59 cases of age‐matched controls were investigated. All patients underwent clinical, endoscopic, and histological assessment for disease activity and severity. Fecal samples were analyzed for FECP, FC, and FMPO. Results All three fecal biomarkers were elevated in patients compared with controls ( P = 0.000). Significant differences were found between inactive UC and controls ( P = 0.000). Cases with severe UC had significantly higher FECP levels than those with mild UC ( p < 0.05), but there were no significant differences in FC and FMPO levels among disease severity groups. All three biomarkers showed positive correlation with Ulcerative Colitis Activity Index (UCAI). The areas under the ROC curve of FECP, FC, and FMPO were 0.939, 0.783, and 0.785, respectively. Sensitivity and specificity of fecal biomarkers in assessing disease activity were FECP—88.46%, 89.47%; FC—80.77%, 68.42%; and FMPO—84.62%, 63.16%. Conclusions All three fecal biomarkers could be used as surrogate markers for assessing disease activity of UC, and FECP provided superior discrimination than FMPO and FC. Moreover, FECP could distinguish between mild disease and severe disease group.

目的 用TaqMan-MGB荧光探针法检测北京地区幽门螺杆菌克拉霉素耐药位点A2142G、A2143G突变情况.方法 收集北京大学人民医院消化科门诊尿素酶试验及病理活检均阳性的患者233例,所有患者均应用MGB荧光探针法和一代测序法对耐药位点A2142G/A2143G进行检测,其中79例患者同时进行传统培养联合药敏法检测.分析耐药位点突变发生率与患者年龄、性别和消化性溃疡的关系.结果 79例传统培养联合药敏法检测的标本中成功培养出42例,占53％(42/79),其中耐药型菌株22例,敏感型菌株20例,而MGB荧光探针法成功检出77例,占97％(77/79),其中野生型28例,突变型49例.在传统培养+药敏法培养出的42例阳性标本中,两种方法检出的符合率为86％(36/42).233例标本中,一代测序法成功检测出214例,占92％(214/233),其中野生型138例,突变型76例.在76例突变型标本中,含A2142G突变(包括A2142G和A2142G+野生)的标本占5％(4/76),含A2143G突变(包括A2143G和A2143G+野生)的标本占95％(72/76).MGB荧光探针法成功检测出231例,占99％(231/233),其中野生型141例,突变型90例.在90例突变型标本中,含A2142G突变的标本占14％ (13/90),含A2143G突变的标本占86％(77/90).一代测序法和MGB荧光探针法在区分是否含有突变上的符合率为95％ (203/214).根据MGB荧光探针法检测结果将患者分为突变组与野生组,2组在年龄和性别上差异无统计学意义(t年龄=-0.685,P=0.4 93;x2性别=0.065,P=0.890),而在消化性溃疡发生率上差异存在统计学意义(x2=6.653,P=0.044).结论 TaqMan MGB荧光探针法可应用于临床快速、敏感地检测患者胃黏膜标本中幽门螺杆菌克拉霉素A2142G、A2143G耐药位点突变情况.

目的 对化学发光免疫分析法(CLIA)测定EB病毒衣壳抗原IgM(EBV-VCA IgM)的结果进行方法学评价,并与酶联荧光分析法(ELFA)、酶联免疫吸附试验法(ELISA)诊断EB病毒(EBV)急性感染的效能进行比较.方法 选取2011年5月-2012年10月北京大学人民医院不明原因发热患者142例,对受试者使用分离胶真空采血管抽取静脉血3ml,分离血清,采用CLIA、ELFA和ELISA检测EBV-VCA IgM,比较3种方法诊断EBV急性感染的价值;并对CLIA进行方法学评价.结果 CLIA低、中和高值(分别为25.8、81.8、184.4 U/ml)血清标本批内变异系数(CV)分别为5.7％、3.9％和2.6％,批间CV分别为11.4％、5.4％和4.2％.理论值与实测值间的回归方程为Y =0.090 4 +1.005 2X,相关系数r=0.998 (P ＜0.001),回收率为95.3％～104.8％;当标本中血红蛋白水平达8 g/L,三酰甘油达30 000 mg/L时,均不干扰CLIA.CLIA诊断EBV急性感染的灵敏度为94.2％,特异度为91.1％,Youden's指数为0.853;ELFA诊断EBV急性感染的灵敏度为82.7％,特异度为88.9％,Youden's指数为0.716,;ELISA诊断EBV急性感染的灵敏度为80.8％,特异度为91.1％,Youden's指数为0.719.CLIA诊断EBV急性感染ROC曲线下面积(AUC)为0.962 [SE=0.021,95％ CI (0.920,1.004)];ELFA诊断EBV急性感染的AUC为0.960[SE =0.015,95％CI (0.911,0.990)];ELISA诊断EBV急性感染的AUC为0.882[SE=0.031,95％ CI (0.823,0.942)].ROC曲线显示,CLIA诊断EBV急性感染的最佳诊断界值为41 U/ml,灵敏度为96.2％,特异度为99.7％,Youden's指数为0.959.结论 CLIA是目前测定EBV-VCAIgM较灵敏的定量检测方法,优于ELFA和ELISA,适用于临床EBV感染的早期诊断.

Objective To explore the predictive value of serum CEA and cytokeratin-19 fragments (CYFRA21-1)prior treatment for the epidermal growth factor receptor (EGFR) mutation and efficacy of tyrosine kinase inhibitors ( TKI ) in patients with non-small cell lung cancer.Methods The study was a clinical research.Totally 101 matched tissue and plasma samples were collected from Peking University People′s Hospital from 2012 to 2013.All clinical specimens were analyzed for EGFR mutations in exons of 18, 19, 20 and 21 by ADx-ARMS and direct sequencing, and the serum levels of CEA and CYFRA21-1 were analyzed by ECLI.The correlation between EGFR mutant status and efficacy of EGFR-TKI and clinicopathological parameters were analyzed by χ2 test, Log-rank text and Cox proportional hazards regression model.Results The mutation rate was 60.4%(61/101) by ADx-ARMS and 33.7%(34/101) by direct sequencing.Mutations were more frequently observed in the higher serum CEA level patients(≥5μg/L,78.8%).However, the rates of EGFR mutations of different CEA levels were similar.Among the patients receiving TKI therapy, the efficacy of EGFR-TKI was closely related to serum CYFRA21-1 level prior treatment and EGFR mutation (χ2 =8.903, P =0.003; χ2 =28.590, P <0.001 ).And serum CYFRA21-1 level prior treatment and EGFR mutation were independent factors for EGFR-TKI treatment affecting PFS (RR=0.298, P<0.001;RR=0.086, P<0.001).Conclusion The mutation rate of EGFR was significantly related with the expression level of CEA prior treatment, and serum CEA and CYFRA21-1 levels prior treatment could be potential predictors of EGFR-TKI efficacy.

Objective To analyze anti-TORCH antibodies among women at childbearing age in Beijing in order to provide reference for the healthcare of women at childbearing age. Methods 6 978 women received preconception screening and pregnancy screening in Peking University Peopleˊs Hospital from November 2012 to November 2013 were given anti-TORCH test with CLIA. Results The highest seropositive rate was anti-HSVⅠ/ⅡIgM〔11. 19%(779/6 962)〕,which was significantly higher than the other three pathogens,and the difference was statistically significant(P all<0. 007). It was followed by anti-RV IgM and anti-CMV IgM,whose seropositive rate was 2. 63%(176/6 691)and 2. 54%(167/6 564)respectively,showing no statistically significant difference(P=0. 755). Anti-TOX IgM had the lowest seropositive rate〔0. 62%(41/6 601)〕, showing statistically significant difference( P <0. 007 ) . The results showed a higher prevalence of anti -HSVⅠ/Ⅱ IgM in spring and autumn〔12. 48%(280/2 244)and 12. 41%(195/1 571),respectively〕,while the seropositive rate of anti-CMV IgM was significantly higher in autumn〔3. 66%(541/1 475)〕than other seasons(P<0. 007). The seropositive rate of anti-TOX IgM and anti-RV IgM in different seasons showed no statistically significant difference( P . 0. 05 ) . All the cases were divided into young group( <35 years)and old group(≥35 years). The seropositive rate of anti-HSVⅠ/ⅡIgM in the young group was higher than in the old group(χ2 =31. 934,P=0. 000),while the seropositive rate of anti-CMV IgM in the old group was higher than in the young group(χ2 =7. 888,P=0. 005),and the seropositive rate of anti-TOX IgM in the old group was higher than in the young group(χ2 =8. 929,P=0. 003). The seropositive rate of anti-RV IgM showed no statistically sig-nificant difference between the two groups(χ2 =3. 012,P=0. 083). Among the women surveyed,the anti-CMV IgG had the&nbsp;highest seropositive rate at 84. 36%(2 455/2 910)(P<0. 05),and the anti-TOX IgG had lowest seropositive rate at 1. 22%(27/2 216)(P<0. 05). Conclusion The seropositive rate of TORCH is fairly high among women at childbearing age in Bei-jing. It is necessary to adopt new approaches conduct preconception and pregnancy test to prevent congenital TORCH infection.

目的 了解泌尿生殖道感染患者淋病奈瑟菌(NG)、沙眼衣原体(CT)和解脲脲原体(UU)的感染现状及其特点.方法 应用实时荧光聚合酶链反应(PCR)检测630例(男性274例,女性356例)泌尿生殖道感染患者泌尿生殖道分泌物的NG、CT和UU核酸,并对其中108例患者行单纯疱疹病毒(HSV)检测,82例行人乳头瘤病毒(HPV6/11/16/18)检测.结果 在630例患者中,NG、CT和UU的阳性检出率分别为3.2％ (20/630)、9.8％ (62/630)和47.1％ (297/630),HSV的阳性检出率为2.8％ (3/108),HPV6/11/16/18的阳性检出率为8.7％ (8/92),其中男性NG、CT和UU的阳性检出率分别为5.1％ (14/274)、10.9％ (30/274)和21.5％ (59/274),女性分别为1.7％ (6/356)、9.0％ (32/356)和66.9％ (238/356),女性UU阳性检出率明显高于男性(P＜0.01),男性NG阳性检出率明显高于女性(P＜0.05);男性和女性患者中,NG阳性检出率均以＜30岁组(7.4％,7/94; 3.5％,4/115)较高,男性CT阳性检出率以＞40岁组(17.5％,7/40)最高,女性以＜30岁组(17.3％,18/104)最高,UU在不同性别各年龄组比较,差异均无统计学意义(P＞0.05);CT+UU双重感染的阳性检出率最高,为8.2％ (31/379),NG+UU+CT双重感染检出率为1.6％(6/379),HPV 6/11+NG、HPV 6/11+CT混合感染各1例,HSV-Ⅰ/Ⅱ伴UU感染2例.结论 泌尿生殖道感染患者NG、CT和UU阳性检出率不尽相同,其中以UU最高,且女性阳性检出率高于男性,两种及以上病原体昆合感染较为常见,临床应注意进行多种病原体的检测.

Objective To investigate the value of fecal eosinophil cationic protein(ECP)in the evaluation of the activity of ulcerative colitis(UC).Methods 45 UC patients confirmed in the Department of Digestive System of the First Hospital of Peking University from January 2010 to April 2012 were selected as case group.The patients were divided into remission group(19 cases)and active group(26 cases)according to Mayo disease activity index(UCAI),diarrhea times,hemafecia,mucous membrane condition and the doctor′s assessment.Patients in active group were also divided into slightly active group(5 cases),moderately active group(9 cases)and severely active group(12 cases).30 healthy people who underwent physical examination in the same period were selected as control group.Fluorescence enzyme-immunoassay method was used to quantitatively detect the levels of ECP as well as C-reactive protein(CRP)and erythrocyte sedimentation rate(ESR)in each group.SPSS 13.0 was used to make statistical analysis.Receiver Operating Characteristic(ROC)curve was drawn and the area of AUC and Youden′s index were calculated.The diagnostic efficiency of each index for the evaluation of the UC activity was assessed.Results The levels of fecal ECP between each group showed statistically significant differences(P=0.000).The level of fecal ECP in the active group was significantly higher than that of the remission group(P<0.05),and the level of the remission group was significantly higher than that of the control group(P<0.05).The levels of serum CRP between each group also showed statistically significant differences(P=0.002).The level of serum CRP in the active group was higher than that of the remission group without statistically significant difference(P>0.05),and the level of the remission group was significantly higher than that of the control group(P<0.05).The levels of serum ESR between each group showed statistically significant differences as well(P=0.012).The level of serum ESR in the active group was significantly higher than that of the remission group(P<0.05),and the level of the remission group was higher than that of the control group without statistically significant difference(P>0.05).The ECP levels of the UC patients with different activity levels showed statistically significant differences(P=0.012),among which the slightly active group showed statistically significant difference compared with severely active group(P=0.002),and the slightly active group showed no statistically significant differences compared with the moderately active group and the moderately active group also showed no statistically significant difference compared with the severely active group(P=0.019 and 0.095).The serum CRP and ESR levels between the UC patients with different activity levels both showed no statistically significant differences(P>0.017).Spearman correlation analysis showed that fecal ECP was positively correlated with UCAI(r=0.809,P=0.000).The AUC of fecal ECP for judging the disease activity of UC was 0.939,while the AUC of the serum CRP and serum ESR was 0.578 and 0.721 respectively.When fecal ECP was 52.41 μg/g,the Youden′s index was the highest 1.779,namely the best diagnostic performance in judging UC activity.Conclusion Fecal ECP and UCAI are well connected and fecal ECP has better diagnostic efficacy than serum CRP and ESR.It is conducive to the judgment of UC activity in clinic,but has limited diagnostic value in judging the activity level of patients in active stage.Therefore,ECP can be regarded as a simple,economical,accurate,sensitive and noninvasive biomarker for the monitoring of UC patients′activities.