Objective:To summarize the application value of copy number variant sequencing(CNV-seq)in the detection of fetal chromosome and cytomegalovirus load.Methods:The study analyzed the clinical basic data,relevant laborato...Objective:To summarize the application value of copy number variant sequencing(CNV-seq)in the detection of fetal chromosome and cytomegalovirus load.Methods:The study analyzed the clinical basic data,relevant laboratory tests,treatment process,and outcomes of three patients with positive cytomegalovirus load detected by CNV-seq for fetal chromosomes and cytomegalovirus load,and literature review was done simutaneoubly.Results:In all three cases,the amniotic fluid cytomegalovirus load was less than 105 Copies/ml,and there were no significant neurological abnormalities observed during pregnancy or postpartum follow-up.There is no literature review on the application of CNV-seq technology in the detection of cytomegalovirus infection,only literature reports on genome analysis of CMV-DNA in confirmed patients were available.Conclusion:CNV-seq can be used to detect cytomegalovirus load,which may have a certain degree of predictive value for fetal outcome.CNV-seq can simultaneously detect fetal chromosomes and pathogenic microorganisms,which is of great significance for the prevention and control of birth defects.展开更多
目的:探讨EMSY基因表达水平和多态性与早期卵巢上皮癌患者预后的关系。方法:选取118例早期卵巢上皮癌患者(研究组)及63例良性妇科肿瘤患者(对照组),采用逆转录-聚合酶链反应(RT-PCR)分析EMSY m RNA,PCR-限制性片段长度多态性(RFLP)检测4...目的:探讨EMSY基因表达水平和多态性与早期卵巢上皮癌患者预后的关系。方法:选取118例早期卵巢上皮癌患者(研究组)及63例良性妇科肿瘤患者(对照组),采用逆转录-聚合酶链反应(RT-PCR)分析EMSY m RNA,PCR-限制性片段长度多态性(RFLP)检测421+242A>G位点多态性,并进一步分析EMSY基因表达水平及多态性与预后的关系。结果:RT-PCR检测显示,研究组EMSY m RNA和乳腺癌易感基因2(BRCA2)m RNA相对表达量高于对照组,差异有统计学意义(t=33.592,P=0.000;t=25.046,P=0.000)。年龄、绝经情况、国际妇产科联盟(FIGO)分期、分化程度、病理类型、术后化疗及术后复发与EMSY mRNA表达水平相关(均P<0.05)。研究组EMSY基因421+242A>G位点3种基因型和2种等位基因分布频率与对照组比较差异有统计学意义(均P<0.05)。EMSY基因421+242A>G位点GG基因型总生存期、疾病无进展生存期与AA基因型比较差异有统计学意义(Log-rank χ~2=7.482,P=0.006;Log-rank χ~2=8.406,P=0.004)。EMSY mRNA高表达是影响患者总生存期的危险因素(OR=2.322,95%CI:1.277～5.031,P=0.027),AA基因型是影响患者疾病无进展生存期的危险因素(OR=1.882,95%CI:1.192～4.323,P=0.039)。结论:初步研究证实EMSY基因表达水平及421+242A>G位点多态性与早期卵巢上皮癌预后有关。展开更多
目的探讨哌拉西林/他唑巴坦对脓毒症患者血清高迁移率族蛋白B1(High mobility group protein B1,HMGB1)、生长抑制特异性基因6(growth arrest-specific gene,Gas6)、可溶性髓系细胞触发受体-1(soluble Triggering Receptor Expressed on...目的探讨哌拉西林/他唑巴坦对脓毒症患者血清高迁移率族蛋白B1(High mobility group protein B1,HMGB1)、生长抑制特异性基因6(growth arrest-specific gene,Gas6)、可溶性髓系细胞触发受体-1(soluble Triggering Receptor Expressed on Myeloid Cells-1,sTREM-1)表达及预后的影响。方法选择承德市中心医院于2016年6月-2018年6月收治的脓毒症患者82例,按照随机数字表法分为对照组41例与试验组41例。对照组行液体复苏、抗感染、血管活性药物、糖皮质激素、抗凝治疗、肾脏替代治疗及机械通气等常规治疗;试验组在对照组基础上经验性应用哌拉西林/他唑巴坦。比较两组患者疗效,治疗前后肺损伤评分(Murray评分)、急性生理与慢性状况评分系统(Acute physiology and chronic health evaluation scoring system II,APACHE II)评分、序贯器官功能障碍评分(Sequential organ dysfunction score,SOFA)、HMGB1、Gas6、sTREM-1、C反应蛋白(C-reactive protein,CRP)和降钙素原(Procalcitonin,PCT)水平变化,及预后情况。结果治疗后,试验组患者总有效率为97.56%,高于对照组的80.49%(P<0.05);试验组患者Murray评分(1.49±0.27)分、APACHE II评分(8.39±1.08)分和SOFA评分(4.09±0.76)分,均低于对照组的(2.08±0.38)分、(12.64±2.16)分和(5.89±1.09)分(P<0.05);试验组患者血清HMGB1(54.32±7.82)μg/L和Gas6(20.38±2.46)ng/ml,均低于对照组(78.18±10.29)μg/L和(26.57±4.10)ng/ml(P<0.05);试验组患者血清sTREM-1(24.35±8.79)pg/ml、CRP(6.71±1.87)mg/L和PCT(2.63±0.46)mg/L,均低于对照组(37.81±5.42)pg/mL、(19.98±2.06)mg/L和(3.87±0.71)mg/L。结论哌拉西林/他唑巴坦对脓毒症患者疗效良好,可降低血清HMGB1、Gas6、sTREM-1、CRP和PCT水平,且预后良好,值得借鉴。展开更多
基金Hainan Natural Science Foundation(821RC699)Hainan Natural Science Foundation(822RC825)+1 种基金Hainan Provincial Health Industry Research Project(22A200242)Key R&D Plan of Hainan Province(ZDYF2020225)。
文摘Objective:To summarize the application value of copy number variant sequencing(CNV-seq)in the detection of fetal chromosome and cytomegalovirus load.Methods:The study analyzed the clinical basic data,relevant laboratory tests,treatment process,and outcomes of three patients with positive cytomegalovirus load detected by CNV-seq for fetal chromosomes and cytomegalovirus load,and literature review was done simutaneoubly.Results:In all three cases,the amniotic fluid cytomegalovirus load was less than 105 Copies/ml,and there were no significant neurological abnormalities observed during pregnancy or postpartum follow-up.There is no literature review on the application of CNV-seq technology in the detection of cytomegalovirus infection,only literature reports on genome analysis of CMV-DNA in confirmed patients were available.Conclusion:CNV-seq can be used to detect cytomegalovirus load,which may have a certain degree of predictive value for fetal outcome.CNV-seq can simultaneously detect fetal chromosomes and pathogenic microorganisms,which is of great significance for the prevention and control of birth defects.
文摘目的:探讨EMSY基因表达水平和多态性与早期卵巢上皮癌患者预后的关系。方法:选取118例早期卵巢上皮癌患者(研究组)及63例良性妇科肿瘤患者(对照组),采用逆转录-聚合酶链反应(RT-PCR)分析EMSY m RNA,PCR-限制性片段长度多态性(RFLP)检测421+242A>G位点多态性,并进一步分析EMSY基因表达水平及多态性与预后的关系。结果:RT-PCR检测显示,研究组EMSY m RNA和乳腺癌易感基因2(BRCA2)m RNA相对表达量高于对照组,差异有统计学意义(t=33.592,P=0.000;t=25.046,P=0.000)。年龄、绝经情况、国际妇产科联盟(FIGO)分期、分化程度、病理类型、术后化疗及术后复发与EMSY mRNA表达水平相关(均P<0.05)。研究组EMSY基因421+242A>G位点3种基因型和2种等位基因分布频率与对照组比较差异有统计学意义(均P<0.05)。EMSY基因421+242A>G位点GG基因型总生存期、疾病无进展生存期与AA基因型比较差异有统计学意义(Log-rank χ~2=7.482,P=0.006;Log-rank χ~2=8.406,P=0.004)。EMSY mRNA高表达是影响患者总生存期的危险因素(OR=2.322,95%CI:1.277～5.031,P=0.027),AA基因型是影响患者疾病无进展生存期的危险因素(OR=1.882,95%CI:1.192～4.323,P=0.039)。结论:初步研究证实EMSY基因表达水平及421+242A>G位点多态性与早期卵巢上皮癌预后有关。
文摘目的探讨哌拉西林/他唑巴坦对脓毒症患者血清高迁移率族蛋白B1(High mobility group protein B1,HMGB1)、生长抑制特异性基因6(growth arrest-specific gene,Gas6)、可溶性髓系细胞触发受体-1(soluble Triggering Receptor Expressed on Myeloid Cells-1,sTREM-1)表达及预后的影响。方法选择承德市中心医院于2016年6月-2018年6月收治的脓毒症患者82例,按照随机数字表法分为对照组41例与试验组41例。对照组行液体复苏、抗感染、血管活性药物、糖皮质激素、抗凝治疗、肾脏替代治疗及机械通气等常规治疗;试验组在对照组基础上经验性应用哌拉西林/他唑巴坦。比较两组患者疗效,治疗前后肺损伤评分(Murray评分)、急性生理与慢性状况评分系统(Acute physiology and chronic health evaluation scoring system II,APACHE II)评分、序贯器官功能障碍评分(Sequential organ dysfunction score,SOFA)、HMGB1、Gas6、sTREM-1、C反应蛋白(C-reactive protein,CRP)和降钙素原(Procalcitonin,PCT)水平变化,及预后情况。结果治疗后,试验组患者总有效率为97.56%,高于对照组的80.49%(P<0.05);试验组患者Murray评分(1.49±0.27)分、APACHE II评分(8.39±1.08)分和SOFA评分(4.09±0.76)分,均低于对照组的(2.08±0.38)分、(12.64±2.16)分和(5.89±1.09)分(P<0.05);试验组患者血清HMGB1(54.32±7.82)μg/L和Gas6(20.38±2.46)ng/ml,均低于对照组(78.18±10.29)μg/L和(26.57±4.10)ng/ml(P<0.05);试验组患者血清sTREM-1(24.35±8.79)pg/ml、CRP(6.71±1.87)mg/L和PCT(2.63±0.46)mg/L,均低于对照组(37.81±5.42)pg/mL、(19.98±2.06)mg/L和(3.87±0.71)mg/L。结论哌拉西林/他唑巴坦对脓毒症患者疗效良好,可降低血清HMGB1、Gas6、sTREM-1、CRP和PCT水平,且预后良好,值得借鉴。
