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低血磷性佝偻病20例患儿诊断与治疗分析 被引量:5
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作者 吴磊 郑必霞 +8 位作者 陈颖 沙玉根 陈秋霞 张爱华 丁桂霞 赵非 鲍华英 张维真 吴红梅 《中华实用儿科临床杂志》 CSCD 北大核心 2018年第20期1541-1544,共4页
目的分析20例低血磷性佝偻病(HR)患儿临床诊断及治疗资料,以提高临床对HR的诊断和治疗水平。方法回顾性分析2010年5月至2016年4月南京医科大学附属儿童医院收治的20例HR患儿的临床资料,总结其临床特点。20例HR患儿均行X染色体上与... 目的分析20例低血磷性佝偻病(HR)患儿临床诊断及治疗资料,以提高临床对HR的诊断和治疗水平。方法回顾性分析2010年5月至2016年4月南京医科大学附属儿童医院收治的20例HR患儿的临床资料,总结其临床特点。20例HR患儿均行X染色体上与内肽酶同源的磷调节基因(PHEX)直接测序,未发现PHEX基因突变的患儿进一步采用多重连接探针扩增技术进行基因分析。结果20例HR患儿均有不同程度的生长迟缓、双下肢弯曲及典型的X线佝偻病表现。经治疗后临床表现好转,身高标准差数值(HSDS)随治疗时间的延长而明显改善,差异有统计学意义(P=0.027)。患儿血磷波动与继发性甲状旁腺功能亢进之间呈正相关(P〈0.05)。19例患儿检测到PHEX基因突变,以截断型突变为主,其中4种PHEX基因突变为首次报道。结论临床表现、实验室及影像学检查是HR诊断的临床指标,PHEX基因检测可作为本病诊断的重要辅助标准,早期诊断、及时治疗可明显改善患儿临床表现。 展开更多
关键词 低血磷性佝偻病 诊断 治疗
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The reductive mechanism of nitrobenzene catalyzed by nine charcoals in sulfides solution
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作者 YU XiaoDong GONG WenWen +1 位作者 LIU XinHui bao huaying 《Science China Chemistry》 SCIE EI CAS 2012年第10期2217-2223,共7页
Due to the different sources of charcoals, there are significant differences in their properties. In order to study the catalytic effect of different charcoals to nitrobenzene (NB), we selected nine charcoal-sources t... Due to the different sources of charcoals, there are significant differences in their properties. In order to study the catalytic effect of different charcoals to nitrobenzene (NB), we selected nine charcoal-sources to prepare nine charcoals with different properties. The experiments showed that NB could be rapidly reduced by sulfides in the presence of all charcoals. The surface area normalized reduction rate constants of NB increased with H/C and (O+N)/C ratio of charcoals increasing. The difference of catalytic effect for nine charcoals was mainly due to their different species and content of surface functional groups and original organic matter. Based on the theoretical calculation and experimental results, the reaction mechanism of NB catalyzed by charcoal in sulfides solution was analyzed. Some active surface functional groups and original organic matter of charcoals were regarded as the active sites and played an important role in catalyzing the reduction of NB by accelerating the transfer of electrons from sulfides to NB. 展开更多
关键词 charcoal NITROBENZENE sulfides CATALYSIS reductive mechanism
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