亚甲基四氢叶酸还原酶基因多态性与冠心病关系的研究

目的探讨Ｎ５－亚甲基四氢叶酸还原酶（ＭＴＨＦＲ）基因多态性与冠状动脉粥样硬化性心脏病的关系。方法利用聚合酶链反应和限制性片段长度多态性（ＰＣＲ－ＲＦＬＰ）方法，检测了７９名健康人和６９名冠心病患者ＭＴＨＦＲ基因的６７７碱基多态性突变Ｃ→Ｔ情况，并加以对照分析。结果冠心病患者ＭＴＨＦＲ基因突变型Ｖ６７７基因的频率，明显高于健康人，差异极显著（Ｐ＜０．０１）。结论提示ＭＴＨＦＲ基因突变型Ｖ６７７基因可能是冠心病的又一个遗传风险因子，为探讨冠心病发病机理提供了新的依据     

Monoclonal ribosomal P autoantibody inhibits the expression and release of IL-12, TNF-alpha and iNOS in activated RAW macrophage cell line

Monoclonal ribosomal P protein antibody (anti-P mAb) may bind to the cell surface, penetrate into cells, and induce apoptosis of Jurkat T cells. Recently, modulation of cytokines has been considered to be important in the pathogenesis of systemic lupus erythematous (SLE). In this study, effects of anti-P mAbs (9B6) on gene expression of cytokines, apoptosis, and reactive oxygen species in murine macrophage RAW 264.7 were analyzed by RT-PCR and ELISA and those on IL-12 promoter activity was determined in an IL-12p40 promoter-reporter gene transfected cell line RAW (IL-12p40-SEAP). After treating LPS-activated RAW 264.7 with 9B6 for 6 or 24 h, the levels of mRNA and protein expression of IL-12, TNF-alpha, and iNOS were significantly inhibited by 25%, 16%, and 13%, respectively. The IL-12 promoter activity of RAW (IL-12p40-SEAP) was also inhibited by 13-22%. However, inhibitory effects were not observed in cells pre-treated with IgG1 for 1 h. The productions of IL-10 in LPS-activated RAW 264.7 and human macrophages were potentiated by 9B6 up to 65% and 51%, respectively. Since anti-P Abs inhibit productions of IL-12 and TNF-alpha and enhance IL-10 production in macrophages, these autoantibodies may augment Th2 responses and amplify lupus manifestations by causing immunological polarity and lymphocyte dysfunction.     

兔肺灌洗型呼吸窘迫综合症模型和猪肺表面活性物质的治疗作用

用整肺灌洗法复制兔ＲＤＳ模型，系统观察了灌洗液磷脂和蛋白质含量、血气、潮气量、肺顺应性、生命体征、Ｘ线胸片和病理形态学指标。结果显示：整肺灌洗法可迅速导致严重呼吸窘迫，其病理特征主要是ＰＳ系统功能急剧缺乏和肺损伤，用猪肺表面活性物质治疗后可获得明显改善。表明该模型病理性质介于ＡＲＤＳ和ＮＲＤＳ之间，用我们研制的猪肺表面活性物质替代治疗有较满意的疗效。     

“镜面人”保留左结肠动脉腹腔镜低位直肠癌根治术1例

<正>“镜面人”是指胸、腹腔内所有内脏器官的完全性反位,其解剖位置与正常人完全相反,像镜子中的影像一样。这是一种极为罕见的先天性疾病。国外文献报道,“镜面人”发病率为1/(4 000～8 000)^[1]。有肠癌和内脏转位的患者更是罕见,反位结直肠癌(situs inversus colorectal cancer,SCRC)中最常见的突变基因为APC、TP53、CHEK2、MDC1、GNAQ、KRAS和SMAD4,并且DNA损伤修复基因突变的发生率很高^[2]。2017年韩国Hong SK等^[3]报道了1例镜面人行腹腔镜右半肝切除术,但国内相关报道极少。     

穿心莲内酯对TBHP诱导的椎间盘髓核细胞凋亡的作用及机制研究

目的：探讨穿心莲内酯（andrographolide,ANDRO）对叔丁基过氧化氢（tert-butyl hydroperoxide,TBHP）诱导的椎间盘髓核细胞（nucleus pulposus cells,NPC）凋亡的作用及其机制。方法：用TBHP诱导NPC建立细胞模型。将NPC分为5组：对照组、模型组（100μmol/L TBHP）、ANDRO低剂量组（100μmol/L TBHP+9μmol/L ANDRO）、ANDRO中剂量组（100μmol/L TBHP+18μmol/L ANDRO）和ANDRO高剂量组（100μmol/L TBHP+36μmol/L ANDRO）。流式细胞术检测细胞凋亡和活性氧（reactive oxygen species,ROS）水平,ELISA试剂盒检测氧化应激相关指标超氧化物歧化酶（superoxide dismutase,SOD）、谷胱甘肽过氧化物酶（glutathione peroxidase,GSH-PX）和过氧化氢酶（catalase,CAT）水平,JC-1探针法检测线粒体膜电位,Western blot检测动力相关蛋白1(dynam...     

正常人和脑梗死患者颈动脉血流超声多普勒时频分析

目的：分别对正常人和脑梗死患颈动脉血流超声多普勒时频分析,为临床应用提供参考资料。方法：检测正常人和脑梗患（大多有颈动脉粥样硬化斑块）的颈动脉多普勒血流时频谱,以其峰值频率（fmax),模式频率（fmode),平均频率（fmean),低值频率（fmin),重脉波频率（fp)和频弥散宽度（fw)为定量指标。结果：正常人颈动脉血流信号时频谱的fmax,fmean和fmode曲线在一个心动周期中具有总体相似的形状,相互嵌套,其中收缩期的fmax最高,均大于3kHz,fmin最低不低于1kHz,脑梗死患颈动脉时频谱的fmax与fmean和fmode两曲线分开,fmax减低（＜3kHz),fp消失,舒张末期fmin减低显（均低于0．5kHz),结论：颈动脉多普勒血流时频分析及所遴选的定量指标对颈动脉粥样硬化斑块十分敏感,可供诊断试验,且可集成在便携式计算机里,适用于社区人群中筛选易中风病变个体。     

Association of angiotensin Ⅱ type 1 receptor gene polymorphism with essential hypertension

Objective To determine whether the polymorphism A1166C in the angiotensin Ⅱ type 1 receptor (AT1R) gene is associated with essential hypertension.Methods A case-control study was carried out using 125 hypertensive and 103 normotensive subjects. The A→C variant at position 1166 (A1166C) of t he AT1R gene was identified by polymerase chain reaction (PCR) and PCR/ restriction fragment length polymorphism (PCR/RFLP) analysis. The digestion products were separated on 2% agarose gels and visualized with ethid ium bromide under ultraviolet ray.Results The differences in C1166 allele frequency and in the AC genotype dist ribution of the AT1R gene between the hypertensive and normotensive groups were statistically significant (C allele: 0.092 vs 0.034, χ(2) =6.1 86, P&lt;0.05; AC genotype: 0.184 vs 0.068, χ(2) =6.654, P&lt;0.05).Conclusion The AC genotype is associated with essential hypertension, and the C a llele may be a marker for predisposition to hypertension in Chinese H an population.     

The role of sexual related Y gene detection in the diagnosis of patients with gonadal dysgenesis

Objective To clarify the role of sexual related Y (SRY) gene detection in the diagnosis of gonadal dysgenesis.Methods Sixteen cases of gonadal dysgenesis were included in this study: 5 with androgen insensitivity syndrome, 1 with 17-α-hydroxylase deficiency, 4 with true herm aphrodite, 2 with 45,X/46,XY gonadal dysgenesis, 1 with 45,X gonadal dysgenesis, 1 with XY pure gonadal dysgenesis, 1 with testicular regression, and 1 XY fema le who gave birth to a normal baby. SRY gene was detected by using polymerase c hain reaction (PCR) in blood and gonad samples and by direct sequencing of the S RY motif. Results Among the 16 cases, 15 were blood SRY positive, among which 13 (86.7%) showed t he presence of testicular tissue, and 2 showed ovaries without testicular tissue . One SRY negative case showed the presence of testicular tissue. In 3 cases, SRY detection in gonadal tissue correlated with pathological findings but not wi th blood karyotype. The correlation between peripheral blood SRY and the pathol ogy of the gonads was 81.25% and the correlation between the presence of periph eral blood Y chromosome and pathology of the gonads was 68.75%. Sequencing of the SRY motif in an XY female who gave birth to a normal baby showed no mutatio n.Conclusions SRY detection is more sensitive and specific than blood karyotype in the predic tion of the presence of testicular tissue. Peripheral blood karyotype does not necessarily reflect gonadal type. There may be testicular related factors other than the SRY gene.     

组织多普勒成像和血流多普勒频谱研究冠心病患者左室舒张功能

目的：将组织多普勒成像（TDI）和彩色多普勒超声技术结合研究冠心病虱的左室舒张功能（LVDF）。方法：在心尖四腔心切面上用彩色多普勒超声检测80例心病患和79例相同年龄组正常人舒张早、晚期二尖瓣口血流频谱的最大速度（Vmax)时间速度积分（TVI）,同时用TDI技术检测左室外侧壁心肌收缩、舒张期运动频谱的Vmax和TVI,所有数据进行统计学分析。结果：两种技术所检测的正常人舒张早期峰的Vmax和TVI随着年龄的增长而降低,而舒张晚期峰的Vmax和TVI逐渐增高,冠心病患的数据变化与年龄关系不明显,主要与其心肌的病理变化程度有关,当二尖瓣口血流频谱出现“假性正常”、无法准确判断LVDF时,TDI技术的敏感性较高,它还可按检查的设计任意测量某一部位的心肌运动。结论：用血流多普勒频谱判断LVDF在一般情况下简单、方便。TDI技术可同时对左室收缩、舒张功能进行全面判断。