目的:在中国人非综合征型唇裂伴或不伴腭裂(non-syndromic cleft lip with or without palate,NSCL/P)核心家系中,利用全外显子组测序探索与NSCL/P发病相关的新生突变位点。方法:对22个中国NSCL/P核心家系进行全外显子组测序,采用基因...目的:在中国人非综合征型唇裂伴或不伴腭裂(non-syndromic cleft lip with or without palate,NSCL/P)核心家系中,利用全外显子组测序探索与NSCL/P发病相关的新生突变位点。方法:对22个中国NSCL/P核心家系进行全外显子组测序,采用基因组分析工具包(Genome Analysis ToolKit,GATK)通过对比亲代与子代同一位点的等位基因识别新生突变位点,采用SnpEff软件对位点进行功能注释。对新生突变位点进行富集分析,检验全外显子区域内存在的新生突变数量是否高于预期值,以及是否存在包含新生突变数量显著高于预期值的基因。通过查阅文献总结既往研究提示与NSCL/P发病存在较强证据支持的基因,根据注释信息筛选能够引起蛋白质改变的新生突变位点,对该类位点所在基因编码的蛋白质与NSCL/P相关基因编码的蛋白质进行交互作用分析。利用R软件的denovolyzeR包进行富集分析(Bonferroni多重检验校正:P=0.05/n,n为基因个数)。利用STRING数据库预测新生突变所在基因与已知NSCL/P致病基因编码的蛋白质间的交互作用。结果:全外显子组测序得到的位点中共有339908个位点通过质量控制,经GATK软件比对共筛选出345个高置信度新生突变,其中错义突变44个,无义突变1个,经典剪接位点2个,同义突变20个,内含子区或基因间区位点278个。富集分析显示,全外显子组中引起蛋白质改变的新生突变数量显著高于预期值(P<0.05),KRTCAP2、HMCN2、ANKRD36C、ADGRL2和DIPK2A 5个基因所含的新生突变位点高于预期(P<0.05/(2×19618))。蛋白质交互作用分析纳入46个包含能够引起蛋白质序列改变的新生突变所在的基因及13个既往研究提示与NSCL/P存在关联的基因,两类基因编码的蛋白质之间存在6组交互作用,其中RGPD4与SUMO1编码的蛋白质的交互作用证据可信度最高,STRING数据库交互作用评分为0.868。结论:研究为NSCL/P的发病提供了新的证据,对携带新生突变的基因进行功能分析有助于揭示复杂疾病的遗传结构。展开更多
目的:描述并比较使用及未使用院前急救医疗服务(emergency medical services,EMS)的急性缺血性脑卒中(acute ischemic stroke,AIS)患者的诊疗方式及诊疗过程。方法:回顾性分析广州市番禺区中心医院自2019年10月至2020年11月救治的1041例...目的:描述并比较使用及未使用院前急救医疗服务(emergency medical services,EMS)的急性缺血性脑卒中(acute ischemic stroke,AIS)患者的诊疗方式及诊疗过程。方法:回顾性分析广州市番禺区中心医院自2019年10月至2020年11月救治的1041例AIS患者。结果:与自行入院者相比,救护车运送入院者年龄较更高,患者出现言语不清的症状更多,入院NIHSS得分更高,从发病到入院时间(time from onset to hospital admission,OTD)时间更短,接受静脉溶栓、血管内介入治疗的比例更高,从入门到开始CT时间(door to CT scan,DTC)时间更短,均具有统计学意义。结论:接受EMS的AIS患者更有利于救治工作的开展。展开更多
We employ an aluminum (Al) film as a thermal conduction layer under the laser thermal lithography AgInSbTe phase-change film to improve the patterning resolution in laser thermal lithography.The patterns were fabricat...We employ an aluminum (Al) film as a thermal conduction layer under the laser thermal lithography AgInSbTe phase-change film to improve the patterning resolution in laser thermal lithography.The patterns were fabricated by laser writing and wet-etching.The laser writing was conducted by a setup where the laser wavelength and the numerical aperture of the converging lens were 405nm and 0.90,respectively.The wet-etching was carried out in a 17wt% ammonium sulfide solution.Experimental results indicate that the patterning resolution enhancement induced by an Al thermal conduction layer is more than 20% compared with that of the samples without an Al thermal conduction layer.The analysis reveals that the resolution-enhancing effect may be due to the changes of heat diffusion directions induced by the Al thermal conduction layer.展开更多
[ Objective] To represent characteristics of roosting-sites of blue-eared pheasant （ Crossoptilon auritum） in breeding season and the fac- tors affecting selection of roosting-sites. [ Method] A total of 32 night ro...[ Objective] To represent characteristics of roosting-sites of blue-eared pheasant （ Crossoptilon auritum） in breeding season and the fac- tors affecting selection of roosting-sites. [ Method] A total of 32 night roosting-sites of blue-eared pheasants and 45 control sites were selected from the Gahai-Zecha Nature Reserve in Gansu Province in breeding season. Fifteen habitat factors including landform, vegetation and distance were surveyed. Chi-square test and test of significance were conducted. And major environmental factors affecting selection of roosting-sites were deter- mined by principal component analysis. [ Result] As shown by the chi-square analysis, roosting-sites were characterized by sunny slope; steeper slope; higher arbor coverage, arbor height and trunk diameter; and lower shrub coverage, shrub height, grass coverage and grass height. The principal component analysis showed that shrub coverage, shrub height, distance to road, moss coverage and grass height were the key factors for the blue-eared pheasants to choose roosting-sites. [ Conclusion] Blue-eared pheasants usually select coniferous forest on sunny and steeper slope which has many high shrubs as their night roosting-sites.展开更多
文摘目的:在中国人非综合征型唇裂伴或不伴腭裂(non-syndromic cleft lip with or without palate,NSCL/P)核心家系中,利用全外显子组测序探索与NSCL/P发病相关的新生突变位点。方法:对22个中国NSCL/P核心家系进行全外显子组测序,采用基因组分析工具包(Genome Analysis ToolKit,GATK)通过对比亲代与子代同一位点的等位基因识别新生突变位点,采用SnpEff软件对位点进行功能注释。对新生突变位点进行富集分析,检验全外显子区域内存在的新生突变数量是否高于预期值,以及是否存在包含新生突变数量显著高于预期值的基因。通过查阅文献总结既往研究提示与NSCL/P发病存在较强证据支持的基因,根据注释信息筛选能够引起蛋白质改变的新生突变位点,对该类位点所在基因编码的蛋白质与NSCL/P相关基因编码的蛋白质进行交互作用分析。利用R软件的denovolyzeR包进行富集分析(Bonferroni多重检验校正:P=0.05/n,n为基因个数)。利用STRING数据库预测新生突变所在基因与已知NSCL/P致病基因编码的蛋白质间的交互作用。结果:全外显子组测序得到的位点中共有339908个位点通过质量控制,经GATK软件比对共筛选出345个高置信度新生突变,其中错义突变44个,无义突变1个,经典剪接位点2个,同义突变20个,内含子区或基因间区位点278个。富集分析显示,全外显子组中引起蛋白质改变的新生突变数量显著高于预期值(P<0.05),KRTCAP2、HMCN2、ANKRD36C、ADGRL2和DIPK2A 5个基因所含的新生突变位点高于预期(P<0.05/(2×19618))。蛋白质交互作用分析纳入46个包含能够引起蛋白质序列改变的新生突变所在的基因及13个既往研究提示与NSCL/P存在关联的基因,两类基因编码的蛋白质之间存在6组交互作用,其中RGPD4与SUMO1编码的蛋白质的交互作用证据可信度最高,STRING数据库交互作用评分为0.868。结论:研究为NSCL/P的发病提供了新的证据,对携带新生突变的基因进行功能分析有助于揭示复杂疾病的遗传结构。
文摘目的:描述并比较使用及未使用院前急救医疗服务(emergency medical services,EMS)的急性缺血性脑卒中(acute ischemic stroke,AIS)患者的诊疗方式及诊疗过程。方法:回顾性分析广州市番禺区中心医院自2019年10月至2020年11月救治的1041例AIS患者。结果:与自行入院者相比,救护车运送入院者年龄较更高,患者出现言语不清的症状更多,入院NIHSS得分更高,从发病到入院时间(time from onset to hospital admission,OTD)时间更短,接受静脉溶栓、血管内介入治疗的比例更高,从入门到开始CT时间(door to CT scan,DTC)时间更短,均具有统计学意义。结论:接受EMS的AIS患者更有利于救治工作的开展。
基金Supported by the National Natural Science Foundation of China under Grant Nos 61137002 and 61178059.
文摘We employ an aluminum (Al) film as a thermal conduction layer under the laser thermal lithography AgInSbTe phase-change film to improve the patterning resolution in laser thermal lithography.The patterns were fabricated by laser writing and wet-etching.The laser writing was conducted by a setup where the laser wavelength and the numerical aperture of the converging lens were 405nm and 0.90,respectively.The wet-etching was carried out in a 17wt% ammonium sulfide solution.Experimental results indicate that the patterning resolution enhancement induced by an Al thermal conduction layer is more than 20% compared with that of the samples without an Al thermal conduction layer.The analysis reveals that the resolution-enhancing effect may be due to the changes of heat diffusion directions induced by the Al thermal conduction layer.
基金funded by the China Natural Science Foundation ( 30530130)Natural Science Basic Research Plan in Shaanxi Province of China ( 2010JQ3001)+1 种基金Scientific Research Program Funded by Shaanxi Provincial Education Department ( 2010JK543)Graduate Program of Weinan Teachers University ( 10YKZ055)
文摘[ Objective] To represent characteristics of roosting-sites of blue-eared pheasant （ Crossoptilon auritum） in breeding season and the fac- tors affecting selection of roosting-sites. [ Method] A total of 32 night roosting-sites of blue-eared pheasants and 45 control sites were selected from the Gahai-Zecha Nature Reserve in Gansu Province in breeding season. Fifteen habitat factors including landform, vegetation and distance were surveyed. Chi-square test and test of significance were conducted. And major environmental factors affecting selection of roosting-sites were deter- mined by principal component analysis. [ Result] As shown by the chi-square analysis, roosting-sites were characterized by sunny slope; steeper slope; higher arbor coverage, arbor height and trunk diameter; and lower shrub coverage, shrub height, grass coverage and grass height. The principal component analysis showed that shrub coverage, shrub height, distance to road, moss coverage and grass height were the key factors for the blue-eared pheasants to choose roosting-sites. [ Conclusion] Blue-eared pheasants usually select coniferous forest on sunny and steeper slope which has many high shrubs as their night roosting-sites.
