目的 既往在中国人群中发现的1,3-D-半乳糖基转移酶p.Arg187Cys突变个体表型为正常B型,本文探究该突变导致AB亚型的可能分子机制.方法 利用免疫血清学方法鉴定一名中国籍个体的血型血清型,PCR方法扩增ABO基因增强子、启动子和所有7个外显子及其侧翼序列,并对扩增产物进行测序分析;采用Chimira软件构建3D分子模型,就突变对1,3-D-半乳糖基转移酶结构的影响进行预测.结果 经血清学方法鉴定为ABx亚型.对ABO基因测序显示,该健康个体为A1.02/B.03基因型;仅在B等位基因第7外显子检出c.559C>T(p.Arg187Cys)突变,ABO基因其余位点未见突变.3D分子模型分析提示p.Arg187Cys突变改变了1,3-D-半乳糖基转移酶局部的氢键网络,可能因此导致酶活性下降;在与A基因共表达时,在1,3-N-乙酰氨基半乳糖转移酶的竞争作用下表现出弱B表型.结论 ABO*B基因c.559C>T突变通过减弱1,3-D-半乳糖基转移酶的活性以及ABO*A基因产物的竞争作用而导致形成ABx亚型.

目的 评价分侧肾小球滤过率(GFR)评估动脉粥样硬化性单侧肾动脉狭窄经皮肾动脉支架植入术(PTRAS)效果的作用.方法 选择2014年7月至2019年7月在上海瑞金医院接受PTRAS治疗的64例动脉粥样硬化所致肾动脉狭窄患者.术前、术后12个月检测患者肾功能,血压水平,99mTc-乙二胺四乙酸(EDTA)检测分侧GFR,比较术前、术后患者血压水平、服用降压药种类、肾小球滤过率估计值(eGFR)及分侧GFR等变化.结果 PTRAS术前患者患侧GFR显著低于健侧(P=0.002),术后12个月患侧GFR与健侧差异无统计学意义(P>0.05).术后12个月,患者收缩压、舒张压与术前相比均显著下降(P<0.001,P=0.003),但降压药种类、eGFR较术前差异均无统计学意义(P>0.05),患侧GFR较术前显著改善(P=0.001).结论 PTRAS可提高动脉粥样硬化性肾动脉狭窄患者患侧GFR,分侧GFR下降可作为行PTRAS术指征之一.

Objective To investigate the relationship between the erythrocyte immunity,cellular immunity indexes and the severity of heart failure.Methods Seventy four patients with heart failure in our hospital from November 2011to November 2013were selected as observation group,Seventy four persons with same age in health examination were selected as control group.The erythrocyte immunity and cellular immunity parameters of two groups were analyzed and compared,and the erythrocyte immunity and cellular immunity indexes of patients with different stages of cardiac function were also compared.The relationship between these parameters and the disease severity was analyzed by Logistic analysis.Results The erythrocyte immunity and cellular immunity detection levels of observation group were all obviously worse than those of control group,and the detection levels of patients with different stages of cardiac function had obvious differences,and the detected indexes had close relationship with the disease severity by the Logistic analysis(P0.05).Conclusion The erythrocyte immunity and cellular immunity indexes of patients with heart failure are in poor state,and these indexes of patients are associated with the severity of heart failure.

Objective To explore the relationship between blood lipids and the severity of coronary artery disease. Methods A total of 4 751patients with chest pain were divided into two groups according to the results of coronary angiography:coronary artery disease group(n=3 402stenosis in one main branch stenosis≥50%)and control group(stenosis50%,n=1 349).According to the number of coronary artery stenosis,the coronary artery disease group was divided into three subgroups(group 1:1branch stenosis;group 2:2branch stenosis;and group 3:3or more than 3branch stenosis).The serum total cholesterol(TC),triglycefides(TG),high density lipoprotein cholesterol(HDL-C),and low-density lipoprotein cholesterol(LDL-C)were determined and LDL-C/HDL-C was calculated.The relationship between lipids and the severity of coronary artery stenosis was analyzed by Spearman correlation analysis,and the risk factors of coronary artery disease were analyzed by multiple-stepwise logistic regression analysis.Results The levels of TG,TC,LDL-C and the ratio of LDL-C/HDL-C in the coronary artery disease group were significantly lower than those in the control group(P0.01).LDLC/HDL-C ratio increased with the increase of diseased branches in the disease group(P0.001),and the number of diseased branches was positively correlated with the ratio of LDL-C/HDL-C(R=0.25,P0.01).Logistic multiple regression analysis showed that high LDL-C/HDL-C level was an independent risk factor for coronary heart disease.Conclusion LDL-C/HDL-C ratio is an independent risk factor for coronary heart disease and it is positively correlated with the severity of coronary artery lesions.