目的探讨一例源于亲代臂间倒位的7号染色体重组胎儿超声及分子遗传特征。方法对超声提示颈项透明层增厚、颅脑发育异常的胎儿行染色体G显带分析及染色体微阵列分析,并对胎儿父母双方行染色体G显带分析以明确来源。以“7号染色体臂间倒...目的探讨一例源于亲代臂间倒位的7号染色体重组胎儿超声及分子遗传特征。方法对超声提示颈项透明层增厚、颅脑发育异常的胎儿行染色体G显带分析及染色体微阵列分析,并对胎儿父母双方行染色体G显带分析以明确来源。以“7号染色体臂间倒位”或“pericentric inversion of chromosome7”为检索词在PubMed、中文期刊全文数据库(CNKI)、万方数据知识服务平台及维普中文科技期刊数据库检索,收集并分析检索到的源于亲代臂间倒位7号染色体重组患者临床资料。结果该例超声提示胎儿多发异常,表现为全前脑、唇腭裂、淋巴管水囊瘤、全身皮肤水肿及脐膨出声像;胎儿染色体核型为46,XN,rec(7)dup(7p)inv(7)(p21q35),胎儿父亲染色体核型为46,XY,inv(7)(p21q35),胎儿母亲染色体核型正常。染色体微阵列分析提示胎儿7号染色体7p21.3-pter位置发生重复、7q35-qter位置发生缺失,这些区域涉及FAM20C和SHH、EN2等具有临床意义的候选基因。检索文献后共收集4例源于亲代臂间倒位的7号染色体重组患者临床资料,但均为出生后病例并伴不同程度肢体异常,其中一例与该例有相近重复及缺失的染色体区域,主要表现为严重智力障碍、头小畸形、矮小及形态异常。结论臂间倒位可引起子代染色体重组从而导致胎儿发育异常,7号染色体重组涉及的FAM20C和SHH基因与唇腭裂和全前脑等表型相关,通过染色体核型分析及染色体微阵列分析可明确遗传病因,指导遗传咨询。展开更多
The Cr doped into TiO2(110) surface has been studied systematically by using periodic DFT/B3LYP method with slab model. It is found that doping Cr into perfect TiO2 (110) surface can reduce the value of band-gap from ...The Cr doped into TiO2(110) surface has been studied systematically by using periodic DFT/B3LYP method with slab model. It is found that doping Cr into perfect TiO2 (110) surface can reduce the value of band-gap from 3.13 to 1.16 eV, and then photocatalysis reaction may be achieved in visual light area. The results are in good agreement with the experiments.展开更多
The interaction of cyanide (CN) with different sites on Ni(111) surface is studied by using density functional theory (DFT). Ni19 cluster is used to simulate the surface. The present calculations show that the end-o...The interaction of cyanide (CN) with different sites on Ni(111) surface is studied by using density functional theory (DFT). Ni19 cluster is used to simulate the surface. The present calculations show that the end-on bonded (through C atom) configuration is much more preferable than the side-on bonded CN or other configurations on the same adsorption site. For all adsorption modes, adsorption energies at the top, bridge, and three-fold sites on Ni(111) are comparable, with the bridge site of the end-on bonded CN (through C atom) more favorable than other adsorption sites. CN vibrational frequencies are red-shifted at all cases, except that the end-on CN bonded (through C atom) on the top site is blue-shifted. The bonding of CN on the Ni(111) surface is large- ly ionic.展开更多
目的探讨重症超声可视化病理生理导向的休克患者液体管理与预后的关系。方法对一项重症超声导向的ICU患者休克治疗的前瞻随机对照研究的数据进行分析。试验组(77例)患者采用重症超声导向休克治疗(critical care ultrasound oriented sho...目的探讨重症超声可视化病理生理导向的休克患者液体管理与预后的关系。方法对一项重症超声导向的ICU患者休克治疗的前瞻随机对照研究的数据进行分析。试验组(77例)患者采用重症超声导向休克治疗(critical care ultrasound oriented shock treatment,CCUSOST)方案对休克患者不同时期的液体入量进行管理,并与传统的标准临床液体管理诊疗方法(对照组70例)进行比较,评估液体管理与预后的关系,以单因素和多因素logistic回归分析影响ICU病死的危险因素。结果试验组患者和对照组患者基线指标一致(P>0.05),分组治疗后试验组患者ICU病死率较对照组低,差异有统计学意义(P<0.05);试验组在休克稳定期和降阶梯入量和ICU病死率较对照组更少,且差异有统计学意义(P<0.05);将纳入研究的ICU休克患者按是否死亡分为生存组(92例)和死亡组(55例),进行ICU病死的单因素分析,结果显示,急性生理和慢性健康(APACHEⅡ)评分、血乳酸(Lac)水平、每小时尿量、液体总入量、抢救期和优化期液体入量、降阶梯期和稳定期的液体入量两组差异有统计学意义(P<0.05)。多因素分析显示,抢救期和优化期液体入量、稳定期和降阶梯期液体入量与乳酸、APACHEⅡ评分均是ICU病死结局的独立危险因素。结论重症超声指导休克的液体管理,可以减少稳定期和降阶梯期的液体入量,并改善不良结局;无论是休克抢救期和优化期的液体入量,还是稳定期和降阶梯期的液体入量均与患者预后相关。展开更多
文摘目的探讨一例源于亲代臂间倒位的7号染色体重组胎儿超声及分子遗传特征。方法对超声提示颈项透明层增厚、颅脑发育异常的胎儿行染色体G显带分析及染色体微阵列分析,并对胎儿父母双方行染色体G显带分析以明确来源。以“7号染色体臂间倒位”或“pericentric inversion of chromosome7”为检索词在PubMed、中文期刊全文数据库(CNKI)、万方数据知识服务平台及维普中文科技期刊数据库检索,收集并分析检索到的源于亲代臂间倒位7号染色体重组患者临床资料。结果该例超声提示胎儿多发异常,表现为全前脑、唇腭裂、淋巴管水囊瘤、全身皮肤水肿及脐膨出声像;胎儿染色体核型为46,XN,rec(7)dup(7p)inv(7)(p21q35),胎儿父亲染色体核型为46,XY,inv(7)(p21q35),胎儿母亲染色体核型正常。染色体微阵列分析提示胎儿7号染色体7p21.3-pter位置发生重复、7q35-qter位置发生缺失,这些区域涉及FAM20C和SHH、EN2等具有临床意义的候选基因。检索文献后共收集4例源于亲代臂间倒位的7号染色体重组患者临床资料,但均为出生后病例并伴不同程度肢体异常,其中一例与该例有相近重复及缺失的染色体区域,主要表现为严重智力障碍、头小畸形、矮小及形态异常。结论臂间倒位可引起子代染色体重组从而导致胎儿发育异常,7号染色体重组涉及的FAM20C和SHH基因与唇腭裂和全前脑等表型相关,通过染色体核型分析及染色体微阵列分析可明确遗传病因,指导遗传咨询。
基金This work was supported by the State Key Laboratory of Structural Chemistry, the National Natural Science Foundation of China (20273013), and the Education Foundation of Fujian Province (JA03007)
文摘The Cr doped into TiO2(110) surface has been studied systematically by using periodic DFT/B3LYP method with slab model. It is found that doping Cr into perfect TiO2 (110) surface can reduce the value of band-gap from 3.13 to 1.16 eV, and then photocatalysis reaction may be achieved in visual light area. The results are in good agreement with the experiments.
基金This work was supported by the National Natural Science Foundation of China (20273013 20303002)+1 种基金 the Fujian Province Key Foundation (K02012) the State Key Laboratory of Structural Chemistry (020051) and Fuzhou University (2004XY04)
文摘The interaction of cyanide (CN) with different sites on Ni(111) surface is studied by using density functional theory (DFT). Ni19 cluster is used to simulate the surface. The present calculations show that the end-on bonded (through C atom) configuration is much more preferable than the side-on bonded CN or other configurations on the same adsorption site. For all adsorption modes, adsorption energies at the top, bridge, and three-fold sites on Ni(111) are comparable, with the bridge site of the end-on bonded CN (through C atom) more favorable than other adsorption sites. CN vibrational frequencies are red-shifted at all cases, except that the end-on CN bonded (through C atom) on the top site is blue-shifted. The bonding of CN on the Ni(111) surface is large- ly ionic.
