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
Raman spectrum is a powerful analytical tool for determining the chemical information of compounds. In this study, we obtained analytical results of chlorophenols（CPs） molecules including 4-chlorophenol（4-CP）, 2,6...Raman spectrum is a powerful analytical tool for determining the chemical information of compounds. In this study, we obtained analytical results of chlorophenols（CPs） molecules including 4-chlorophenol（4-CP）, 2,6-dich- lorophenol（2,6-DCP） and 2,4,6-trichlorophenol（2,4,6-TCP） on the surface of Ag dendrites by surface-enhanced Raman scattering（SERS） spectra. SEM images indicate that the SERS substrate of Ag dendrites is composed of a large number of polygonal nanocrystallites, which self-assembled into a 3D hierarchical structure. It was found that there were distinct differences for those three molecules from Raman and SERS spectra. This indicates that SERS could be a new tool of detection technique regarding trace amounts of CPs.展开更多
Background Decayed teeth are harmful to children＇s growth and development and can severely jeopardize their health. This study was set out to investigate and analyze the prevalence of dental caries in preschool child...Background Decayed teeth are harmful to children＇s growth and development and can severely jeopardize their health. This study was set out to investigate and analyze the prevalence of dental caries in preschool children in Shanghe County in Shandong Province, China, and provide new insights into potential prevention and treatment strategies. Methods Based on the random sampling method, we performed dental examinations of children aged 2 to 6 years in kindergartens of Shanghe County. The prevalence of caries, the average number of decayed teeth per capita as well as the constituent rates of decayed, missing and filled teeth were determined retrospectively. SPSS software was used for data analysis. Results Dental caries were found in 1088 out of 2052 children from 56 kindergartens. The total number of decayed teeth was 4487 with a prevalence of 53.02%. The average number of decayed teeth per capita was 2.187, and the filling rate was 0.29%. There was no statistical difference in the prevalence of caries between boys and girls though there were significant differences between different age groups. The prevalence of decayed teeth as well as the mean number of decayed teeth infected per capita increased with age. In addition, urban children had a higher prevalence than those from rural areas （P 〈0.01）. Conclusions The prevalence of decayed caries among kindergarten children in Shanghe County was high, suggesting that more emphasis should be put on improving oral health education with priority given to prevention. Further efforts should be made to increase the decayed caries filling rate.展开更多
基金Supported by the National Natural Science Foundation of China(Nos.21073072, 20903044)the Scientific and Technological Development Plan Project of Jilin Province, China(No.20090546)+1 种基金the Open Project of State Key Laboratory of Superhard Materials, Chinathe Basic Research Fund of Jilin University, China
文摘Raman spectrum is a powerful analytical tool for determining the chemical information of compounds. In this study, we obtained analytical results of chlorophenols（CPs） molecules including 4-chlorophenol（4-CP）, 2,6-dich- lorophenol（2,6-DCP） and 2,4,6-trichlorophenol（2,4,6-TCP） on the surface of Ag dendrites by surface-enhanced Raman scattering（SERS） spectra. SEM images indicate that the SERS substrate of Ag dendrites is composed of a large number of polygonal nanocrystallites, which self-assembled into a 3D hierarchical structure. It was found that there were distinct differences for those three molecules from Raman and SERS spectra. This indicates that SERS could be a new tool of detection technique regarding trace amounts of CPs.
文摘Background Decayed teeth are harmful to children＇s growth and development and can severely jeopardize their health. This study was set out to investigate and analyze the prevalence of dental caries in preschool children in Shanghe County in Shandong Province, China, and provide new insights into potential prevention and treatment strategies. Methods Based on the random sampling method, we performed dental examinations of children aged 2 to 6 years in kindergartens of Shanghe County. The prevalence of caries, the average number of decayed teeth per capita as well as the constituent rates of decayed, missing and filled teeth were determined retrospectively. SPSS software was used for data analysis. Results Dental caries were found in 1088 out of 2052 children from 56 kindergartens. The total number of decayed teeth was 4487 with a prevalence of 53.02%. The average number of decayed teeth per capita was 2.187, and the filling rate was 0.29%. There was no statistical difference in the prevalence of caries between boys and girls though there were significant differences between different age groups. The prevalence of decayed teeth as well as the mean number of decayed teeth infected per capita increased with age. In addition, urban children had a higher prevalence than those from rural areas （P 〈0.01）. Conclusions The prevalence of decayed caries among kindergarten children in Shanghe County was high, suggesting that more emphasis should be put on improving oral health education with priority given to prevention. Further efforts should be made to increase the decayed caries filling rate.
