期刊文献+
共找到3篇文章
< 1 >
每页显示 20 50 100
Screening for tetrahydrobiopterin deficiency among hyperphenylalaninemia patients in Southern China 被引量:4
1
作者 叶军 +4 位作者 马燮琴 张雅芬 陈瑞冠 顾学范 《Chinese Medical Journal》 SCIE CAS CSCD 2002年第2期57-61,151-152,共7页
Abstract Objectives To assess the incidence of tetrahydrobiopterin (BH4)deficiency among patients with hyperphenylalaninemia (HPA) in southern Chinese and evaluate clinical outcome and gene mutations in tetrahydrobi... Abstract Objectives To assess the incidence of tetrahydrobiopterin (BH4)deficiency among patients with hyperphenylalaninemia (HPA) in southern Chinese and evaluate clinical outcome and gene mutations in tetrahydrobiopterin deficient patients.Methods Urinary neopterin (N) and biopterin (B) was analyzed in 87 patients with hyperphenylalaninemia by high-performance liquid chromatography. Further combined loading tests with phenylalanine(Phe) (100*!mg/kg) and tetrahydrobiopterin (BH4) (7.5*!mg/kg) were performed in suspected patients with abnormal urinary pterin profiles. Gene mutation analysis was performed for patients with BH4 deficiency and their parents. BH4 deficient patients were treated with BH4 and neurotransmitter precursors after diagnosis. Blood phenylalanine levels, clinical symptoms and mental development were followed up.Results Eleven patients were diagnosed as having BH4 deficiency caused by 6-pyruvoyl tetrahydropterin synthase (PTPS) deficiency. The incidence of tetrahydrobiopterin (BH4) deficiency among patients with hyperphenylalaninemia (HPA) in southern Chinese was 10%. Combined loading tests with phenylalanine and oral BH4 were done in 4 of 11 patients and their phenylalanine levels were decreased to normal 4-6h after BH4 administration. Four different mutations (P87S, N52S, D96N and G144R) in the PTPS gene were detected in 5 families. Five PTPS-deficient patients were treated with synthetic BH4, neurotransmitter precursors (L-dopa plus carbidopa, and 5-hydroxytryptophan). They had satisfactory physical and mental development after treatment. One patient with partial PTPS deficiency had normal growth and mental development without treatment. Conclusions Our results emphasize that screening for BH4 deficiency should be carried out in all patients with hyperphenylalaninemia in order to minimize the misdiagnosis. Patients with BH4 deficiency should be treated early with BH4 and a combination of neurotransmitter precursors. 展开更多
关键词 phenylketonuria · gene mutation · neonatal screening · tetrahydrobiopterin deficiency
全文增补中
萘酰氨基修饰β-环糊精对几种荧光染料的分子识别 被引量:3
2
作者 赵焱 +2 位作者 赵勇 李琮 《分析化学》 SCIE EI CAS CSCD 北大核心 2006年第7期959-962,共4页
用光谱滴定技术分别测定了β-环糊精(1)、单-[6-(1-萘酰氨基)-乙基氨基-6-脱氧]-β-环糊精(2)、单-[6-(1-萘酰氨基)-二乙基二氨基-6-脱氧]-β-环糊精(3)在25℃时,pH为7.2、2.0和10.1的缓冲溶液中与几种染料分子形成超分子配合物的稳定常... 用光谱滴定技术分别测定了β-环糊精(1)、单-[6-(1-萘酰氨基)-乙基氨基-6-脱氧]-β-环糊精(2)、单-[6-(1-萘酰氨基)-二乙基二氨基-6-脱氧]-β-环糊精(3)在25℃时,pH为7.2、2.0和10.1的缓冲溶液中与几种染料分子形成超分子配合物的稳定常数Ks,并考察了pH=7.2时识别过程的热力学参数ΔH0和TΔS0。结果表明,pH为2.0和10.1时,静电、疏水和氢键作用协同贡献于超分子配合物的形成,如主体2与AR在pH=10.1时形成的Ks=7085;而pH=2.0时的Ks=1034。当pH=7.2时主-客体的尺寸/形状匹配、疏水作用和范德华力决定配合物的稳定性。主体2、3对AR、TNS和ANS的包结配位是放热过程,并给出较大的焓变(-ΔH0),对RhB主要表现为熵驱动过程。 展开更多
关键词 修饰环糊精 染料分子 分子识别 超分子配合物 热力学
下载PDF
外周血单个核细胞的GM-CSF与白介素-10mRNA表达量比值的变化与哮喘气道炎症
3
作者 任筱兰 徐军 +3 位作者 文思成 张宏 钟南山 《广东医学》 CAS CSCD 2001年第2期104-106,共3页
目的 探讨炎症因子粒细胞 -巨噬细胞集落刺激因子 (GM -CSF)与抑炎因子IL -10基因表达的动态变化与治疗前后症状改善的关系 ,寻找简便易行能较好反映气道炎症客观指标。方法 对 42例症状期支气管哮喘 (简称哮喘 )患者 ,采用RT -PCR方... 目的 探讨炎症因子粒细胞 -巨噬细胞集落刺激因子 (GM -CSF)与抑炎因子IL -10基因表达的动态变化与治疗前后症状改善的关系 ,寻找简便易行能较好反映气道炎症客观指标。方法 对 42例症状期支气管哮喘 (简称哮喘 )患者 ,采用RT -PCR方法 ,进行吸入糖皮质激素治疗前后 (普米克TM气雾剂 2 0 0~ 10 0 0 μg/d)外周血单个核细胞GM -CSF/ βactinmRNA ,IL -10 / β -actinmRNA表达动态监测 ,并与健康人对比。 结果 GM -CSF / β -actin与IL -10 / β-actin相对比值在症状期哮喘组显著高于正常对照组 ;分别为 2 75 17± 0 695和 5 0 972± 0 85 3 (P =0 0 3 8)。抗炎治疗后随症状缓解 ,PBMCsGM -CSF / β -actin与IL -10 / β -actin相对比值下降至 2 42 6± 0 75 5 (P =0 0 0 0 )。 结论 动态观察炎症因子 /抑炎因子的相对值 -GM -CSF/IL -10在外周血单个核细胞的表达变化 。 展开更多
关键词 粒细胞-巨噬细胞集落刺激因子 白细胞介素-10 外周血单个核细胞 支气管哮喘 mRNA
下载PDF
上一页 1 下一页 到第
使用帮助 返回顶部