目的:对1例产前B超提示骨骼系统发育异常,疑似宫内生长受限的胎儿进行基因检测及生物信息学分析以明确其致病原因。方法:采集胎儿羊水及父母外周血,提取基因组DNA,利用高通量测序平台进行家系全外显子组测序(whole exome sequencing,WES...目的:对1例产前B超提示骨骼系统发育异常,疑似宫内生长受限的胎儿进行基因检测及生物信息学分析以明确其致病原因。方法:采集胎儿羊水及父母外周血,提取基因组DNA,利用高通量测序平台进行家系全外显子组测序(whole exome sequencing,WES)及拷贝数变异测序(copy number variation sequencing,CNV-seq)技术检测,可疑结果经Sanger测序进行验证。结果:胎儿高迁移率族蛋白A2(high mobility group protein AT-Hook-2,HMGA2)基因存在c.223C>T(p.R75W)新发变异,导致氨基酸改变为p.R75W(p.Arg75Trp),为错义突变。根据美国医学遗传学与基因组学学会(American College of Medical Genetics and Genomics,ACMG)指南评级,该变异判定为可能致病性(likely pathogenic):PS2+PM2_Supporting+PP3+PS4_Supporting。根据其临床表型,该胎儿被确诊为常染色体显性遗传的Silver-Russell综合征5型(Silver-Russell syndrome 5,SRS5)。Sanger测序确证了其变异的真实性。结论:HMGA2基因的c.223C>T(p.R75W)杂合致病性变异可能是SRS5的遗传学致病原因,扩充了该基因的变异谱,同时为该胎儿的产前遗传咨询和后续的干预措施提供了理论依据。展开更多
Silver coatings on the exterior surface of monolithic activated carbon（MAC） with different morphology were prepared by directly immersing MAC into [Ag（NH3）2]NO3 solution. Acid and base treatments were employed to ...Silver coatings on the exterior surface of monolithic activated carbon（MAC） with different morphology were prepared by directly immersing MAC into [Ag（NH3）2]NO3 solution. Acid and base treatments were employed to modify the surface oxygenic groups of MAC, respectively. The MACs＇ Brunauer-EmmettTeller（BET） surface area, surface groups, and silver coating morphology were characterized by N2 adsorption, elemental analysis（EA）, X-ray photoelectron spectroscopy（XPS）, and scanning electron microscopy（SEM）, respectively. The coating morphology was found to be closely related to the surface area and surface functional groups of MAC. For a raw MAC which contained a variety of oxygenic groups, HNO3 treatment enhanced the relative amount of highly oxidized groups such as carboxyl and carbonates, which disfavored the deposition of silver particles. By contrast, Na OH treatment significantly improved the amount of carbonyl groups, which in turn improved the deposition amount of silver. Importantly, lamella silver was produced on raw MAC while Na OH treatment resulted in granular particles because of the capping effect of carbonyl groups. At appropriate [Ag（NH3）2]NO3 concentrations, silver nanoparticles smaller than 100 nm were homogeneously dispersed on Na OH-treated MAC. The successful tuning of the size and morphology of silver coatings on MAC is promising for novel applications in air purification and for antibacterial or aesthetic purposes.展开更多
The low temperature thermodynamics of the stable phase of silver was assessed by the polynomial model and Debye model from the experimental data available in the literature. By means of the constrained non-linear leas...The low temperature thermodynamics of the stable phase of silver was assessed by the polynomial model and Debye model from the experimental data available in the literature. By means of the constrained non-linear least squares curve fitting arithmetic, two sets of parameter values were determined. The expression of the thermodynamic functions cp（T） and G（T）-H （298.15K） at 0-298.15K were presented. Only the low temperature thermodynamics of the metastable phase of silver can be extrapolated by the Debye model The expression of the thermodynamic functions cp（T） at 0- 298.15K was presented.展开更多
文摘目的:对1例产前B超提示骨骼系统发育异常,疑似宫内生长受限的胎儿进行基因检测及生物信息学分析以明确其致病原因。方法:采集胎儿羊水及父母外周血,提取基因组DNA,利用高通量测序平台进行家系全外显子组测序(whole exome sequencing,WES)及拷贝数变异测序(copy number variation sequencing,CNV-seq)技术检测,可疑结果经Sanger测序进行验证。结果:胎儿高迁移率族蛋白A2(high mobility group protein AT-Hook-2,HMGA2)基因存在c.223C>T(p.R75W)新发变异,导致氨基酸改变为p.R75W(p.Arg75Trp),为错义突变。根据美国医学遗传学与基因组学学会(American College of Medical Genetics and Genomics,ACMG)指南评级,该变异判定为可能致病性(likely pathogenic):PS2+PM2_Supporting+PP3+PS4_Supporting。根据其临床表型,该胎儿被确诊为常染色体显性遗传的Silver-Russell综合征5型(Silver-Russell syndrome 5,SRS5)。Sanger测序确证了其变异的真实性。结论:HMGA2基因的c.223C>T(p.R75W)杂合致病性变异可能是SRS5的遗传学致病原因,扩充了该基因的变异谱,同时为该胎儿的产前遗传咨询和后续的干预措施提供了理论依据。
基金Funded by the Interdisciplinary Program of Shanghai Jiao Tong University(YG2016MS24)
文摘Silver coatings on the exterior surface of monolithic activated carbon（MAC） with different morphology were prepared by directly immersing MAC into [Ag（NH3）2]NO3 solution. Acid and base treatments were employed to modify the surface oxygenic groups of MAC, respectively. The MACs＇ Brunauer-EmmettTeller（BET） surface area, surface groups, and silver coating morphology were characterized by N2 adsorption, elemental analysis（EA）, X-ray photoelectron spectroscopy（XPS）, and scanning electron microscopy（SEM）, respectively. The coating morphology was found to be closely related to the surface area and surface functional groups of MAC. For a raw MAC which contained a variety of oxygenic groups, HNO3 treatment enhanced the relative amount of highly oxidized groups such as carboxyl and carbonates, which disfavored the deposition of silver particles. By contrast, Na OH treatment significantly improved the amount of carbonyl groups, which in turn improved the deposition amount of silver. Importantly, lamella silver was produced on raw MAC while Na OH treatment resulted in granular particles because of the capping effect of carbonyl groups. At appropriate [Ag（NH3）2]NO3 concentrations, silver nanoparticles smaller than 100 nm were homogeneously dispersed on Na OH-treated MAC. The successful tuning of the size and morphology of silver coatings on MAC is promising for novel applications in air purification and for antibacterial or aesthetic purposes.
基金supported by the National Natural Science Foundation of China(No.50271085)Hunan Provincial Natural Science Foundation of China(No.06FJ3015)Hunan Provincial Research Foundation of Education Bureau of China(No.75KZ).
文摘The low temperature thermodynamics of the stable phase of silver was assessed by the polynomial model and Debye model from the experimental data available in the literature. By means of the constrained non-linear least squares curve fitting arithmetic, two sets of parameter values were determined. The expression of the thermodynamic functions cp（T） and G（T）-H （298.15K） at 0-298.15K were presented. Only the low temperature thermodynamics of the metastable phase of silver can be extrapolated by the Debye model The expression of the thermodynamic functions cp（T） at 0- 298.15K was presented.
