目的 对钱塘江南岸地区BRCA1/BRCA2基因突变的乳腺癌患者特征进行分析,为国家及各地公共卫生主管部门制定乳腺癌防治方案奠定基础.方法 选取2016年来萧山医院就诊18周岁以上女性由乳腺钼靶摄影或乳腺彩超及由病理学诊断为乳腺癌的98例患者,通过PCR和测序分析对BRCA1/BRCA2基因突变进行分析,对乳腺癌患者进行相关肿瘤标志物的检测,采用问卷调查的方式对乳腺癌患者进行流行病学调查.结果 通过对98例乳腺癌患者BRCA1/2基因全外显子以及外显子内含子拼接区序列测序,共发现23例BRCA2基因缺失突变,所有突变位点均为首次发现.BRCA1/2基因突变乳腺癌患者相关肿瘤标志物具有一定差异.BRCA1/2基因突变的乳腺癌患者主要以中年妇女为主,此外与乳腺癌相关的疾病史对于BRCA1/2基因的突变也具有一定意义.结论 钱塘江南岸地区的女性乳腺癌患者中BRCA1/ BRCA2基因突变频率较高,且以中年妇女为主,应定期进行随访监测.

目的:分析血浆D-二聚体变化在新生儿窒息、黄疸患者评估中的价值.方法:收集2015-2017年12月之间浙江萧山医院新生儿病房130例新生儿常见疾病早期患者及健康对照组60例,分别测定全血血气和血浆D-二聚体含量,依据全血血气结果PaO2水平分为PaO2>60mmHg轻度窒息组和PaO2<60mmHg重度窒息组及健康对照组,比较重度窒息组、轻度窒息组D-二聚体的水与健康对照组差异.结果:重度窒息组、轻度窒息组D-二聚体的水平分别为1.03±0.1mg/L、0.75±0.09mg/L,明显高于健康对照组0.23±0.07mg/L,差异有统计学意义(p<0.05).新生儿呼吸窘迫综合征NRDS组、病理性黄疸组D-二聚体的血浆水平分别为0.94±0.08mg/L、0.52±0.05mg/L,两者与健康对照组D-二聚体血浆相比,明显升高差异具有统计学意义(p<0.05),早产儿及抽搐待诊组D-二聚体的血浆水平与对照组D-二聚体相比,差异无统计学意义.结论:血浆D-二聚体联合血气分析对新生儿常见疾病的早期诊断及治疗效果评估有一定临床价值.

Objective To assess the value of neutrophils nCD64 index for diagnosis of community-acquired pneumonia in infants and young children.Methods Infants and young children with community-acquired pneumonia were enrolled in the study,including 60 cases of bacterial infections,60 cases of mycoplasma infection;and 60 healthy young children and infants served as control group.The nCD64 index was measured by flow cytometry,the CRP and PCT were determined.There indexes were determined in bacterial infection group at 3 days after treatment.Results There were significant differences in CD64 index,CRP and PCT levels between bacterial pneumonia group and healthy controls,between bacterial pneumonia group and mycoplasma pneumonia group (P＜0.05).For bacterial pneumonia group,there were significant differences in CD64 index,CRP and PCT levels (P＜0.05) before and after treatment,nCD64 index was positively correlated with CRP.The sensitivities and specificities of nCD64 for diagnosis of bacterial pneumonia were 81.6％,respectively.Conclusion Determination of nCD64 index is of value in diagnosis of bacterial lung infection and evaluation of therapeutic effectiveness in infants and young children.

目的:探讨血浆B-型尿钠肽(B-type natriuretic peptide,BNP)联合D-二聚体联合检测在慢性心力衰竭早期诊断中的临床应用价值.方法:依据美国组约心脏病协会(New York Heart Association,NYHA)方案对CHF患者进行临床诊断及心功能分级.分别采用化学发光微粒子酶免疫分析法以及免疫比浊法测定120例CHF患者及120名同年龄段健康对照组血浆BNP及D-二聚体水平.结果:CHF患者组的血浆BNP及D-二聚体含量均明显高于健康对照组(P＜0.05);在实验室常用的参考值时BNP、D-二聚体阳性率分别为85.7,％、10.3％,明显高于健康对照组(P＜0.05);CHF患者NYHA心功能Ⅰ级到Ⅳ级血浆BNP及D-二聚体含量逐渐升高,不同分级组之间BNP、D-二聚体含量比较,差异均有统计学意义(P＜0.05);结论:BNP与D-二聚体联合检测不仅可以提高CHF诊断准确性,而且还可作为临床诊断及疗效观察CHF的客观指标.

The solute carrier family 25 (aspartate/glutamate carrier), member 12 gene (SLC25A12) has been strongly posed as a candidate gene for autism spectrum disorder (ASD) given its important role in mitochondrial function and adenosine triphosphate (ATP) synthesis. Evidence is mounting for the association between SLC25A12 variants (rs2056202 and rs2292813) and ASD risk, but the results are inconsistent. To clarify the effect of these two variants on ASD, a meta‐analysis integrating case‐control and transmission disequilibrium test (TDT) studies was performed. The PubMed, Embase, Cochrane Library, Web of Science, Chinese BioMedical Literature (CBM), Wanfang, and Chinese National Knowledge Infrastructure (CNKI) databases were systematically searched to identify relevant studies published up to May 2014. Odds ratios (ORs) and 95% confidence intervals (95%CIs) were calculated to assess the strength of association. A total of 775 cases, 922 controls, and 1289 families available from 8 studies concerning rs2056202, and 465 cases, 450 controls, and 1516 families available from 7 studies concerning rs2292813 were finally included. In the overall meta‐analysis, the rs2056202 T allele and rs2292813 T allele were both significantly associated with a decreased risk of ASD (rs2056202: OR = 0.809, P = 0.001, 95%CI: 0.713–0.917, I2 = 0.0%, and Pheterogeneity = 0.526; rs2292813: OR = 0.752, P < 0.001, 95%CI: 0.649–0.871, I2 = 0.0%, Pheterogeneity = 0.486). Besides, subjects with T‐T haplotype of rs2056202–rs2292813 had a significantly reduced risk of ASD (OR = 0.672, P < 0.001, 95%CI: 0.564–0.801, I2 = 0.0%, Pheterogeneity = 0.631). Sensitivity analysis, cumulative meta‐analysis, and publication bias diagnostics confirmed the reliability and stability of our results. Our meta‐analysis suggests that rs2056202 and rs2292813 in SLC25A12 may contribute significantly to ASD risk. © 2015 Wiley Periodicals, Inc.

Background/aims: To determine whether the combination of tumor markers (CA72-4, CA125, CA19-9 and CEA) could increase the sensitivity and accuracy for in the diagnosis of gastric cancer (GC).Methods: This study is a retrospective analysis. A total of 426 patients, including 106 patients with GC, 149 patients with benign gastric diseases and 171 healthy people, who visited Zhejiang Xiaoshan Hospital from January 2011 to December 2013, were measured by serum markers, including CA72-4, CA125, CA19-9 and CEA. Statistical analyses including area under curve (AUC) of receiver operating characteristic (ROC) curve, and logistic regression analysis, were performed to evaluate the diagnostic value of these markers on GC.Results: Serum levels of CA72-4, CEA, CA125 and CA19-9 were higher in the GC group than those in the benign gastric disease group and the healthy control group (P < 0.005). The sensitivities of CA72-4, CEA, CA125 and CA19-9 at the recommended cut-off level for all patients were 33.0%, 25.5%, 31.1% and 38.7%, respectively. However, when all four markers were used in combination the sensitivity increased to 66.0%. But by using an optimal cut-off value, the sensitivities of all four markers for the diagnosis of GC were improved. Especially the sensitivity of CEA increased to 73.6% and the sensitivity of the combination of the tumor markers increased to 75.5%. The age and gender had no effects on the diagnostic value of these markers.Conclusions: With the help of optimal cut-off values based on ROC curve and logistic regression analysis, the combination of these markers could improve the sensitivity for the diagnosis of GC based on common serum tumor markers. (C) 2014 Elsevier B.V. All rights reserved.