目的研究宁夏地区人群SLC22A12基因rs505802位点和SLC2A9基因rs6855911、rs737267、rs12498742、rs7442295、rs734553和rs16890979位点的基因多态性与低尿酸血症的相关性。方法用多阶段、分层、随机整群抽样的方法于2011年10月至11月在...目的研究宁夏地区人群SLC22A12基因rs505802位点和SLC2A9基因rs6855911、rs737267、rs12498742、rs7442295、rs734553和rs16890979位点的基因多态性与低尿酸血症的相关性。方法用多阶段、分层、随机整群抽样的方法于2011年10月至11月在宁夏回族自治区纳入受试者6 056例,确定98例为低尿酸血症受试者,用1∶1配对病例对照研究法,按照性别和年龄严格匹配84名尿酸正常受试者作为对照组,进行体格检查及实验室生化指标检测,用配对t检验比较一般体检资料及生化指标,用Sequenom Mass ARRAY i PLEX GOLD技术进行SNP位点检测,χ2检验比较各组间基因型频率及等位基因频率,通过Hardy-Weinberg检验确认标本的群体代表性。结果低尿酸组三酰甘油、低密度脂蛋白和肌酐均低于对照组(P<0.05)。SLC2A9基因rs7442295位点低尿酸组G的频率高于对照组(6.00%vs 1.00%,Pc<0.05),携带A/A基因型人群低尿酸血症的患病风险低于含有A/G基因型人群,提示A突变为G与低尿酸血症发生相关(Pc<0.05)。其余6个SNPs位点均未体现与低尿酸血症的相关性。结论 SLC2A9基因的rs7442295位点基因多态性与宁夏人群低尿酸血症相关。展开更多
多发性内分泌腺瘤病1型(multiple endocrine neoplasia type 1,MEN1)为一种常染色体显性遗传的内分泌肿瘤综合征。常见临床表现为甲状旁腺功能亢进、胃肠胰神经内分泌肿瘤及垂体前叶肿瘤,同时大部分患者存在MEN1基因突变。近年来随着基...多发性内分泌腺瘤病1型(multiple endocrine neoplasia type 1,MEN1)为一种常染色体显性遗传的内分泌肿瘤综合征。常见临床表现为甲状旁腺功能亢进、胃肠胰神经内分泌肿瘤及垂体前叶肿瘤,同时大部分患者存在MEN1基因突变。近年来随着基因检测的普及,MEN1基因检测在MEN1的诊断中起到重要作用。然而临床上逐渐发现临床症状典型、MEN1基因阴性的患者,这为该病的诊断带来了挑战。本文总结1例临床表现为甲状旁腺功能亢进、胰腺神经内分泌肿瘤、垂体无功能微腺瘤、未发现MEN1基因突变患者的临床资料、治疗及随访情况,综合分析临床资料和基因检测对MEN1诊断和早期治疗的重要意义。展开更多
OBJECTIVE Inhibition of phosphodiesterase 4(PDE4) improves the learning and memory abilities in Alzheimer disease animal models. The cognition-enhancing effects of PDE4 inhibition involve reduced inflammatory response...OBJECTIVE Inhibition of phosphodiesterase 4(PDE4) improves the learning and memory abilities in Alzheimer disease animal models. The cognition-enhancing effects of PDE4 inhibition involve reduced inflammatory responses in the brain. However,the underlying mechanisms are illunderstood. cA MP induces autophagy,and deficiency of autophagy leads to elevated inflammatory factors.In the present study,we aimed to investigate the contribution of autophagy to the anti-inflammatory effect of PDE4 inhibitor ROF. METHODS Acidic vesicles were traced by Lysotracker(LYT) red and acridine orange(AO) staining. Autophagosomes in BV-2 cells was observed by immunofluorescence staining of microtubule-associated protein 1 light chain 3(LC3). Aβ_(25-35) or lipopolysaccharide(LPS) with ATP were used to activate microglial cells and inflammasome. Cytokine levels were measured by ELISA method. The levels of pro-inflammatory factors and essential proteins involved in the formation of autophagosome were detected by Western blotting. RESULTS ROF increased the level of LC3-Ⅱ,while the level of p62 was decreased. Enhanced fluorescent signals were observed in BV-2 cells treated with ROF by AO and LYT red staining. In addition,immunofluorescence indicated a significant increase in punctate LC3. Both LPS plus ATP and Aβ_(25-35) enhanced the conversion of pro-caspase-1 to cleaved-caspase-1 and increased the production of mature IL-1β. Interestingly,these effects were blocked by the treatment of ROF. Moreover,ROF decreased the apoptosis of neuronal N2 a cells in conditioned media from BV-2 microglia. These effects were reversed by inhibition of microglial autophagy.Treatment with ROF also showedenhanced autophagy in mcie treated with LPS. CONCLUSION PDE4 inhibitor ROF inhibits inflammasome activities and reduces the release of IL-1β by inducing autophagy.展开更多
目的:通过Meta分析探讨白蛋白结合型紫杉醇在卵巢癌治疗中的有效性与安全性。方法:根据指定纳入及排除标准,检索PubMed、EMBASE、Medline、CochraneLibrary、CNKI、万方数据资源库、维普数据库中关于白蛋白结合型紫杉醇治疗卵巢癌的临...目的:通过Meta分析探讨白蛋白结合型紫杉醇在卵巢癌治疗中的有效性与安全性。方法:根据指定纳入及排除标准,检索PubMed、EMBASE、Medline、CochraneLibrary、CNKI、万方数据资源库、维普数据库中关于白蛋白结合型紫杉醇治疗卵巢癌的临床研究。筛选文献后提取相关数据,并应用Minors(methodological index for non-randomized studies)量表和改良Jadad量表分别对非随机试验和随机对照试验进行质量评价。结果:共纳入13篇临床研究(样本量488例)。汇总分析白蛋白结合型紫杉醇单药二线治疗卵巢癌的疾病缓解率(ORR)为47.3%(95%CI:25.5%,69.1%),疾病控制率(DCR)为75.9%(95%CI:57.7%,94.1%);联合铂类晚期一线或复发二线治疗ORR和DCR分别为48.7%(95%CI:26.5%,71.0%)与70.0%(95%CI:50.3%,89.7%);联合贝伐珠单抗二线治疗ORR和DCR分别为60.1%(95%CI:39.7%,80.5%)与86.1%(95%CI:80.4%,91.7%)。3~4级不良反应方面,单药白蛋白结合型紫杉醇白细胞减少发生率为8.4%(95%CI:-0.4%,17.3%),恶心呕吐等消化道反应发生率为3.4%(95%CI:0.2%,6.5%),周围神经病变发生率为2.7%(95%CI:-0.1%,5.5%);联合铂类时白细胞减少发生率为9.9%(95%CI:-2.2%,21.9%),恶心呕吐等消化道反应发生率为7.7%(95%CI:2.0%,13.3%),周围神经病变发生率为5.9%(95%CI:0.9%,10.9%)。结论:白蛋白结合型紫杉醇在卵巢癌二线或晚期一线的治疗中具有一定的有效性与安全性,仍需大型临床试验进一步验证。展开更多
文摘目的研究宁夏地区人群SLC22A12基因rs505802位点和SLC2A9基因rs6855911、rs737267、rs12498742、rs7442295、rs734553和rs16890979位点的基因多态性与低尿酸血症的相关性。方法用多阶段、分层、随机整群抽样的方法于2011年10月至11月在宁夏回族自治区纳入受试者6 056例,确定98例为低尿酸血症受试者,用1∶1配对病例对照研究法,按照性别和年龄严格匹配84名尿酸正常受试者作为对照组,进行体格检查及实验室生化指标检测,用配对t检验比较一般体检资料及生化指标,用Sequenom Mass ARRAY i PLEX GOLD技术进行SNP位点检测,χ2检验比较各组间基因型频率及等位基因频率,通过Hardy-Weinberg检验确认标本的群体代表性。结果低尿酸组三酰甘油、低密度脂蛋白和肌酐均低于对照组(P<0.05)。SLC2A9基因rs7442295位点低尿酸组G的频率高于对照组(6.00%vs 1.00%,Pc<0.05),携带A/A基因型人群低尿酸血症的患病风险低于含有A/G基因型人群,提示A突变为G与低尿酸血症发生相关(Pc<0.05)。其余6个SNPs位点均未体现与低尿酸血症的相关性。结论 SLC2A9基因的rs7442295位点基因多态性与宁夏人群低尿酸血症相关。
文摘多发性内分泌腺瘤病1型(multiple endocrine neoplasia type 1,MEN1)为一种常染色体显性遗传的内分泌肿瘤综合征。常见临床表现为甲状旁腺功能亢进、胃肠胰神经内分泌肿瘤及垂体前叶肿瘤,同时大部分患者存在MEN1基因突变。近年来随着基因检测的普及,MEN1基因检测在MEN1的诊断中起到重要作用。然而临床上逐渐发现临床症状典型、MEN1基因阴性的患者,这为该病的诊断带来了挑战。本文总结1例临床表现为甲状旁腺功能亢进、胰腺神经内分泌肿瘤、垂体无功能微腺瘤、未发现MEN1基因突变患者的临床资料、治疗及随访情况,综合分析临床资料和基因检测对MEN1诊断和早期治疗的重要意义。
基金The project supported by National Natural Science Foundation of China(81373384)
文摘OBJECTIVE Inhibition of phosphodiesterase 4(PDE4) improves the learning and memory abilities in Alzheimer disease animal models. The cognition-enhancing effects of PDE4 inhibition involve reduced inflammatory responses in the brain. However,the underlying mechanisms are illunderstood. cA MP induces autophagy,and deficiency of autophagy leads to elevated inflammatory factors.In the present study,we aimed to investigate the contribution of autophagy to the anti-inflammatory effect of PDE4 inhibitor ROF. METHODS Acidic vesicles were traced by Lysotracker(LYT) red and acridine orange(AO) staining. Autophagosomes in BV-2 cells was observed by immunofluorescence staining of microtubule-associated protein 1 light chain 3(LC3). Aβ_(25-35) or lipopolysaccharide(LPS) with ATP were used to activate microglial cells and inflammasome. Cytokine levels were measured by ELISA method. The levels of pro-inflammatory factors and essential proteins involved in the formation of autophagosome were detected by Western blotting. RESULTS ROF increased the level of LC3-Ⅱ,while the level of p62 was decreased. Enhanced fluorescent signals were observed in BV-2 cells treated with ROF by AO and LYT red staining. In addition,immunofluorescence indicated a significant increase in punctate LC3. Both LPS plus ATP and Aβ_(25-35) enhanced the conversion of pro-caspase-1 to cleaved-caspase-1 and increased the production of mature IL-1β. Interestingly,these effects were blocked by the treatment of ROF. Moreover,ROF decreased the apoptosis of neuronal N2 a cells in conditioned media from BV-2 microglia. These effects were reversed by inhibition of microglial autophagy.Treatment with ROF also showedenhanced autophagy in mcie treated with LPS. CONCLUSION PDE4 inhibitor ROF inhibits inflammasome activities and reduces the release of IL-1β by inducing autophagy.
文摘目的:通过Meta分析探讨白蛋白结合型紫杉醇在卵巢癌治疗中的有效性与安全性。方法:根据指定纳入及排除标准,检索PubMed、EMBASE、Medline、CochraneLibrary、CNKI、万方数据资源库、维普数据库中关于白蛋白结合型紫杉醇治疗卵巢癌的临床研究。筛选文献后提取相关数据,并应用Minors(methodological index for non-randomized studies)量表和改良Jadad量表分别对非随机试验和随机对照试验进行质量评价。结果:共纳入13篇临床研究(样本量488例)。汇总分析白蛋白结合型紫杉醇单药二线治疗卵巢癌的疾病缓解率(ORR)为47.3%(95%CI:25.5%,69.1%),疾病控制率(DCR)为75.9%(95%CI:57.7%,94.1%);联合铂类晚期一线或复发二线治疗ORR和DCR分别为48.7%(95%CI:26.5%,71.0%)与70.0%(95%CI:50.3%,89.7%);联合贝伐珠单抗二线治疗ORR和DCR分别为60.1%(95%CI:39.7%,80.5%)与86.1%(95%CI:80.4%,91.7%)。3~4级不良反应方面,单药白蛋白结合型紫杉醇白细胞减少发生率为8.4%(95%CI:-0.4%,17.3%),恶心呕吐等消化道反应发生率为3.4%(95%CI:0.2%,6.5%),周围神经病变发生率为2.7%(95%CI:-0.1%,5.5%);联合铂类时白细胞减少发生率为9.9%(95%CI:-2.2%,21.9%),恶心呕吐等消化道反应发生率为7.7%(95%CI:2.0%,13.3%),周围神经病变发生率为5.9%(95%CI:0.9%,10.9%)。结论:白蛋白结合型紫杉醇在卵巢癌二线或晚期一线的治疗中具有一定的有效性与安全性,仍需大型临床试验进一步验证。
