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4羟基丁酸尿症9例诊断及长期随访 被引量:1
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作者 范文轩 舒剑波 +1 位作者 王洪 张玉琴 《中华实用儿科临床杂志》 CSCD 北大核心 2019年第20期1560-1564,共5页
目的探讨4羟基丁酸尿症患儿的临床及实验室诊断及随访。方法收集2012年6月至2017年7月天津市儿童医院就诊的9例4羟基丁酸尿症患儿资料,根据其临床特征,应用头颅磁共振成像(MRI)、尿气相色谱-质谱法(GC/MS)半定量检测及ALDH5A1基因突变... 目的探讨4羟基丁酸尿症患儿的临床及实验室诊断及随访。方法收集2012年6月至2017年7月天津市儿童医院就诊的9例4羟基丁酸尿症患儿资料,根据其临床特征,应用头颅磁共振成像(MRI)、尿气相色谱-质谱法(GC/MS)半定量检测及ALDH5A1基因突变检测多层面分析。结果9例起病年龄均<1岁,均存在精神运动发育落后,4例癫痫发作,1例意识障碍,1例不自主运动。9例均行头颅MRI检查,4例头颅MRI示双侧对称性苍白球病变,其中1例伴中脑大脑脚对称性异常信号,1例头颅MRI示左颞叶皮质区软化灶,4例头颅MRI示脑室、脑外间隙增宽。9例尿GC/MS半定量检测示尿4羟基丁酸增高。9例行基因检测均为ALDH5A1基因突变,突变位点3例为c.1568C>T纯合突变,1例为c.839T>G纯合突变,余5例分别为c.691G>A,c.1568C>T;c.1383_2delA,c.1568C>T;c.527G>A,c.691G>A;c.904G>A,c.1022C>A;c.398_399delA、c.638G>T复合杂合突变。9例予对症治疗,其中4例伴癫痫患儿予抗癫痫药物治疗。9例随访,1例因癫痫持续状态死亡,1例癫痫已控制5年,2例抗癫痫治疗有效。8例精神运动发育落后有不同程度好转,1例不自主运动消失,2例复查尿GC/MS半定量检测仍示尿4羟基丁酸增高。结论4羟基丁酸尿症多在1岁内起病,以精神运动发育落后为首发表现,可有癫痫。头颅MRI以对称性苍白球异常信号为主要特征。尿GC/MS示4羟基丁酸增高,为本病生化诊断依据,其在体内蓄积主要损害中枢神经系统。ALDH5A1为致病基因,其中c.1568C>T位点发生突变频率高,推测此位点可能为中国患儿的热点突变。有癫痫者可能死于癫痫持续状态,可作为评判疾病严重度的一个临床指标。无特效治疗,有癫痫者予抗癫痫药物治疗,丙戊酸可加重病情,应避免使用。 展开更多
关键词 4羟基丁酸尿 临床特征 头颅磁共振成像 尿气相色谱-质谱法 ALDH5A1基因突变 随访
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Urine metabonomic study for blood-replenishing mechanism of Angelica sinensis in a blood-deficient mouse model 被引量:11
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作者 WANG Tao SUN Hong-Guo +2 位作者 HUA Yong-Li LI Peng-Ling WEI Yan-Ming 《Chinese Journal of Natural Medicines》 SCIE CAS CSCD 2016年第3期210-219,共10页
This study aimed at determining the effects of Angelica sinensis(AS) on urinary metabolites in blood deficiency mice and exploring its replenishing blood mechanism. Gas chromatography–mass spectrometry(GC-MS) was app... This study aimed at determining the effects of Angelica sinensis(AS) on urinary metabolites in blood deficiency mice and exploring its replenishing blood mechanism. Gas chromatography–mass spectrometry(GC-MS) was applied to detect metabolites in the urine samples in different collection periods. Principal component analysis(PCA) and orthogonal partial least squares discriminant analysis(OPLS-DA) were used to investigate the differences in metabolic profiles among control group(CG), blood deficiency model group(MG), AS groups, and Colla Corii Asini group(CCAG). The potential biomarkers were identified based on the variable importance in the projection(VIP), T-test, and National Institute of Standards and Technology(NIST) and mass spectra library. The metabolites were analyzed using metabolomics pathway analysis(Met PA) to build the metabolic pathways. Our results indicated that, on the seventh day, the levels of glucose, lactic acid, pyruvic acid, alanine, acetoacetic acid, and citric acid changed significantly in blood deficiency mice. However, these metabolic deviations came to closer to normal levels after AS intervention. The reversing blood-deficiency mechanism of AS might involve regulating synthesis and degradation of ketone bodies, Pyruvate metabolism, TCA cycle, and Glycolysis / Gluconeogenesis. In conclusion, metabonomics is a robust and promising means for the identification of biomarkers and elucidation of the mechanisms of a disease, thereby highlighting its importance in drug discovery. 展开更多
关键词 Angelica sinensis METABONOMICS GC-MS Blood deficiency resistant
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Quantification of selected monohydroxy metabolites of polycyclic aromatic hydrocarbons in human urine
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作者 Libin Liu Yueping Luo +2 位作者 Junping Bi Haifang Li Jin-Ming Lin 《Science China Chemistry》 SCIE EI CAS CSCD 2015年第10期1579-1584,共6页
An analytical method was developed to quantitatively determine selected monohydroxy metabolites of polycyclic aromatic hydrocarbons(PAHs) in human urine. The procedure included enzymatic hydrolysis to cleave the conju... An analytical method was developed to quantitatively determine selected monohydroxy metabolites of polycyclic aromatic hydrocarbons(PAHs) in human urine. The procedure included enzymatic hydrolysis to cleave the conjugated metabolites, solid-phase microextraction enrichment, and gas chromatography-mass spectrometry analysis. The method proved to be sensitive enough to detect the selected PAH metabolites in human urine. 展开更多
关键词 polycyclic aromatic hydrocarbons METABOLITES human urine solid-phase microextraction GC/MS
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