目的探讨X连锁高IgM综合征(X-linkedhyper-immunoglobulin M syndromes,XHICM)的临床特征及基因型的特点。方法 2017年7月16日,山东省立医院儿科收治1例反复粒细胞减少的患儿,分析其临床特点、实验室检查和治疗经过。利用二代测序对患...目的探讨X连锁高IgM综合征(X-linkedhyper-immunoglobulin M syndromes,XHICM)的临床特征及基因型的特点。方法 2017年7月16日,山东省立医院儿科收治1例反复粒细胞减少的患儿,分析其临床特点、实验室检查和治疗经过。利用二代测序对患儿行基因检测,并用Sanger测序对患儿及父母的基因突变进行验证。结果患儿男,2岁8个月。曾于2岁2个月时因重症肺炎住院,出院后反复出现粒细胞减低,骨髓穿刺检查提示粒细胞缺乏症。本次入院检查结果显示,IgG、IgA和IgE明显降低,IgM处于正常高值。基因检测结果显示,患儿CD40LG基因第5外显子有1个半合子突变:c.76IC>G(编码区第761号核苷酸由胞嘧啶变异为鸟嘌呤),导致氨基酸改变p.T254R (第254号氨基酸由苏氨酸变异为精氨酸),为错义突变。该变异不属于多态性位点,在人群中发生频率极低,在HGMD专业版数据库中未见报道。进一步家系验证分析显示,患儿母亲该位点杂合变异,该位点为疑似致病性变异,为X连锁隐性遗传,变异来源于母亲。基因诊断明确后,每间隔1～2个月输注人免疫球蛋白,每次7.5 g。出院后随访8个月,共输注4次,期间偶有感冒,未再患肺炎。结论反复中性粒细胞减少的婴幼儿应早期行免疫功能筛查,加强对原发性免疫缺陷病的识别。基因检测是诊断XHIGM的金标准。展开更多
Surfactant-assisted Co film epitaxy growth on Cu(111)using Pb as a surfactant was studied by means of Auger electron spectra and synchrotron radiation photoemission spectra.The results reveal that with increasing the ...Surfactant-assisted Co film epitaxy growth on Cu(111)using Pb as a surfactant was studied by means of Auger electron spectra and synchrotron radiation photoemission spectra.The results reveal that with increasing the Co thickness most of the Pb atoms always float on the surface.Compared with 0.7ML(monolayer)Pb,the Co film with 1.5 ML Pb surfactant has more layer-by-layer growth on Cu(111).The predeposited Pb layer can suppress the intralayer diffusion on the Cu(111)surface and effectively increase the Co island density at the initial stage of Co growth.On the contrary,a Pb-Co surface alloy was found during the Co film growth;this may hinder the interlayer diffusion of the deposited Co atoms,which is unfavorable to the layer-by-layer growth.The Pb-Co is also considered to be the main reason why some Pb atoms have been buried in the Co films.展开更多
The reactions of superthin Pb Hlms on a Cu(111)surface with respect to the coverage of Pb and annealing have been studied by synchrotron radiation photoemission.The submonolayer Pb atoms deposited at room temperature ...The reactions of superthin Pb Hlms on a Cu(111)surface with respect to the coverage of Pb and annealing have been studied by synchrotron radiation photoemission.The submonolayer Pb atoms deposited at room temperature are distributed on the Cu(111)surface as two-dimensional(2D)islands.Annealing to 200℃ gives rise to Pb-Cu surface alloy formation.Analyses show that the surface alloy occurs only in the first layer of the Cu(111)surface.As a surfactant,Pb can promote 2D layer-by-layer growth of thin Hlms on Cu(111),but the Pb~Cu surface alloying may have an unfavorable effect on the activation process.展开更多
Amorphous CN:Ti films deposited by using the reactive magnetron sputtering method were annealed in vacuum under 200 to 600℃. Incorporation of Ti (less than 3at.%) has brought some new perspectives to the material. El...Amorphous CN:Ti films deposited by using the reactive magnetron sputtering method were annealed in vacuum under 200 to 600℃. Incorporation of Ti (less than 3at.%) has brought some new perspectives to the material. Electron-energy-loss spectrum indicates improved conductivity in CN:Ti films as in the insulating CN films. The high-resolution core-level x-ray photoelectron spectroscopy (XPS) studies show that most carbon atoms form homeopolar bonding in as-deposited CN:Ti film. While the N Is line always shrinks with increasing annealing temperature, the total full width at half maximum of C Is line decreases only at annealing temperature over 300℃ when the broadening due to heterobonding formation is outdone by the effect of increasing order. An enhanced π-band feature in the valence-XPS spectra at high annealing temperatures confirms the graphitization tendency of this material.展开更多
The electronic structure of fcc Fe/Cu{111}interface has been studied by angle-resolved photoemission with synchrotron radiation.The existence of the interface state and absence of intermixture between Fe and Cu atoms ...The electronic structure of fcc Fe/Cu{111}interface has been studied by angle-resolved photoemission with synchrotron radiation.The existence of the interface state and absence of intermixture between Fe and Cu atoms in the Fe/Cu{111}interface show that the Fe/Cu{111}system has an abrupt and ordered interface.展开更多
Electronic structure of Cu{111}surface dongΓ-K line of surface Brillouin zone(SBZ)was studied using synchrotron radiation angle-resolved photoemission.A surface state located at 3.0eV below Fermi level,near K point o...Electronic structure of Cu{111}surface dongΓ-K line of surface Brillouin zone(SBZ)was studied using synchrotron radiation angle-resolved photoemission.A surface state located at 3.0eV below Fermi level,near K point of SBZ was observed for the first time.It is described by localized d-electron Tamm surface state.展开更多
基金Supported by the National Natural Science Foundation of China under Grant Nos.19890310 and 19874003.
文摘Surfactant-assisted Co film epitaxy growth on Cu(111)using Pb as a surfactant was studied by means of Auger electron spectra and synchrotron radiation photoemission spectra.The results reveal that with increasing the Co thickness most of the Pb atoms always float on the surface.Compared with 0.7ML(monolayer)Pb,the Co film with 1.5 ML Pb surfactant has more layer-by-layer growth on Cu(111).The predeposited Pb layer can suppress the intralayer diffusion on the Cu(111)surface and effectively increase the Co island density at the initial stage of Co growth.On the contrary,a Pb-Co surface alloy was found during the Co film growth;this may hinder the interlayer diffusion of the deposited Co atoms,which is unfavorable to the layer-by-layer growth.The Pb-Co is also considered to be the main reason why some Pb atoms have been buried in the Co films.
基金Supported by the National Natural Sciences Foundation of China under Grant Nos.19890310 and 19874003.
文摘The reactions of superthin Pb Hlms on a Cu(111)surface with respect to the coverage of Pb and annealing have been studied by synchrotron radiation photoemission.The submonolayer Pb atoms deposited at room temperature are distributed on the Cu(111)surface as two-dimensional(2D)islands.Annealing to 200℃ gives rise to Pb-Cu surface alloy formation.Analyses show that the surface alloy occurs only in the first layer of the Cu(111)surface.As a surfactant,Pb can promote 2D layer-by-layer growth of thin Hlms on Cu(111),but the Pb~Cu surface alloying may have an unfavorable effect on the activation process.
基金the Volkswagen-Foundation,Germany,under the grant number 174701the K.C.Wong Education Foundation,Hong Kong.
文摘Amorphous CN:Ti films deposited by using the reactive magnetron sputtering method were annealed in vacuum under 200 to 600℃. Incorporation of Ti (less than 3at.%) has brought some new perspectives to the material. Electron-energy-loss spectrum indicates improved conductivity in CN:Ti films as in the insulating CN films. The high-resolution core-level x-ray photoelectron spectroscopy (XPS) studies show that most carbon atoms form homeopolar bonding in as-deposited CN:Ti film. While the N Is line always shrinks with increasing annealing temperature, the total full width at half maximum of C Is line decreases only at annealing temperature over 300℃ when the broadening due to heterobonding formation is outdone by the effect of increasing order. An enhanced π-band feature in the valence-XPS spectra at high annealing temperatures confirms the graphitization tendency of this material.
基金Supported by the Chinese Academy of Sciences under No.KJ951-A1-401Doctoral Program Foundation from the State Education Committee。
文摘The electronic structure of fcc Fe/Cu{111}interface has been studied by angle-resolved photoemission with synchrotron radiation.The existence of the interface state and absence of intermixture between Fe and Cu atoms in the Fe/Cu{111}interface show that the Fe/Cu{111}system has an abrupt and ordered interface.
基金Supported by the National Natural Science Foundation of China under grant No.19234010.
文摘Electronic structure of Cu{111}surface dongΓ-K line of surface Brillouin zone(SBZ)was studied using synchrotron radiation angle-resolved photoemission.A surface state located at 3.0eV below Fermi level,near K point of SBZ was observed for the first time.It is described by localized d-electron Tamm surface state.
