Chemical analysis of succinylacetone and 4-hydroxyphenyllactate in amniotic fluid using selective ion monitoring

A method for the measurement of the concentration of succinylacetone and 4-hydroxyphenyllactic acid in amniotic fluid was developed for the prenatal diagnosis of hereditary tyrosinemia. Succinylacetone was converted to 5-methyl-3-isoxazolepropionic acid and isolated with 4-hydroxyphenyllactic acid by liquid partition chromatography and the trimethylsilyl derivatives quantified by ammonia chemical ionization selected ion monitoring gas chromatography-mass spectrometry with 2-hydroxy-n-caproic acid as the internal standard. The concentration of 4-hydroxyphenyllactic acid in normal amniotic fluid was 1.97±0.75 (S.D.) μmol/l while succinylacetone was undetectable. A pregnancy at risk for tyrosinemia type II was monitored. The concentration of 4- hydroxyphenyllactic acid was within the normal range and a healthy child was born.     

隐爆角砾岩筒型矿床成矿流体演化趋势曲线特征

阐述了隐爆角砾岩筒型矿床及其成矿过程中的隐爆流体演化趋势曲线的一般特征,在此基础上,讨论了凹山铁矿床、祁雨沟金矿床、七宝山铜金矿床等典型矿床的矿体产出特征与隐爆流体演化趋势曲线之间存在的耦合关系,结合隐爆角砾岩筒型矿床成矿流体演化的一般特征和特殊情况,对轻微剥蚀岩筒、中等剥蚀岩筒和深度剥蚀岩筒的成矿性进行了分析。     

油藏流体状态方程研究与应用

油藏流体状态方程研究具有重要的理论和现实意义 ,它将成为流体热力学研究的一个新的生长点。论文从流体状态方程的推导方法、影响因素、主要类型等方面较系统地论述了油藏流体状态方程的研究思路和发展方向。并且从含油气系统中烃类相态的判断、油气藏类型的识别以及确定储层质量评价的物理化学模型等方面总结了其研究成果的应用进展。它将为油气藏成藏机理物理化学模型的建立和合理开发方案的制定提供新的工具     

The association of congenital skin disorders with acetylcholinesterase in amniotic fluid

We describe a fetus with epidermolysis bullosa dystrophica and a fetus with aplasia cutis congenita who were normal by careful ultrasound examination but whose midtrimester amniotic fluids exhibited elevated concentrations of alpha-fetoprotein and presence of acetyl-cholinesterase. These cases show that serious fetal skin pathology can be a source of amniotic fluid acetylcholinesterase and elevated alpha-fetoprotein concentration and should be considered as part of the differential diagnosis of these amniotic fluid findings.     

Discordance between prenatal cytogenetic diagnosis and outcome of pregnancy

From 1.3.73 to 30.9.80 5580 women had an amniocentesis performed here or elsewhere; fetal chromosome analyses were carried out in this laboratory. We found 112 abnormal karyotypes (2 per cent) out of 5591 chromosome analyses. In 40 women (0.7 per cent) no cytogenetic diagnosis was obtained. Follow-up was successful in 99.5 per cent. Nine cases are reported in detail: Three cases had discrepancy between the karyotype in amniotic fluid and peripheral blood after delivery, two of these cases turned out to be 46,XX (male) while the third was prenatally determined as trisomy 21, but had a 46,XX karyotype at birth. Six cases had discrepancy between the karyotype in amniotic fluid and the phenotypic outcome at birth/abortion. One case was a prenatally undetected 45,X/46,XY mosaicism; one case was an unexplained 45,X male fetus; two cases were prenatally determined as trisomy 21, but at abortion a normal karyotype was determined and in two cases maternal cells were probably examined. The incidence of cytogeneric errors in this study was very low.     

超临界流体萃取及其在环境分析中的应用

简要介绍了超临界流体萃取法的原理．仪器组成、操作条件的选择、样品预处理方法及其在土壤、水和空气等环境介质中有机污染物分析的应用。     

韧性剪切作用与深源流体演化和金矿化的耦合关系

流体形成演化是当前地球科学的前沿领域，但构造-流体-成矿作用的研究仍很薄弱。文章通过对流体性质的分析，探讨了地质作用过程中流体演化、韧性剪切带中流体演化与矿化的关系。提出当韧性剪切转为脆性剪切时产生的扩容，导致深源流体发生骤然减压冷却，并与地壳浅部流体混合，发生与围岩的交代反应而形成热液蚀变。成矿作用发生于深源流体与上地壳流体的“混合”阶段及流体与围岩交代反应阶段。     

Amniotic fluid disaccharidases in the prenatal detection of cystic fibrosis

Intestinal disaccharidases in amniotic fluid were studied in 41 pregnancies with a recurrence risk for cystic fibrosis (CF). In 11 out of 13 pregnancies with CF fetuses the maltase and sucrase activities were either below the control range (8 cases) or below the 10th percentile of control values (3 cases). Trehalase and lactase were slightly less informative indicators of CF. Of the other 28 pregnancies 3 had low amniotic fluid activities of several intestinal enzymes and were terminated, 12 resulted in the birth of a healthy child and 13 are continuing. The findings in fetal CF suggest an impairment of the defaecation of intestinal contents into the amniotic fluid. Reduced or low amniotic fluid disaccharidase activities were also found in other fetal disorders with demonstrated or presumed intestinal anomalies: e.g. anal atresia (2 cases), anencephaly (3 our of the 7 cases), trisomy 13 (5 cases), trisomy 18 (3 of the 5 cases) and trisomy 21 (19 of the 22 cases). Reduced amniotic fluid disaccharidase activities, although not specific for CF, are highly informative in pregnancies at high risk for CF. Using the 10th percentile of the normal range for amniotic fluid disaccharidase activities as an action line, the sensitivity of CF detection is estimated at 80 to 90 per cent, which could in high risk pregnancies reduce the risk of having another affected child from 1 in 4 to 1 in 20.     

Amniotic fluid acetylcholinesterase measurement in the prenatal diagnosis of open neural tube defects. Second report of the collaborative acetylcholinesterase study

Seventeen centres from Australia, Britain, France, and the United States collaborated in a study to compare amniotic fluid acetylcholinesterase (AChE) determination by gel electrophoresis and amniotic fluid alpha-fetoprotein (AFP) measurement as diagnostic tests for open neural tube defects. The study was based on 32 642 women with singleton pregnancies (including 428 with open spina bifida and 238 with anencephaly) who had an amniocentesis at 13–24 weeks' gestation. The AChE test yielded a detection rate for open spina bifida of 99 per cent (95 per cent confidence interval 98–100 per cent), 98 per cent for anencephaly (95 per cent confidence interval 96–100 per cent), and a false-positive rate of 0.34 per cent (95 per cent confidence interval 0.28–0.40 per cent) excluding miscarriages, intrauterine death, and serious fetal abnormalities. The false-positive rate was 0.30 per cent among the 13 centres that used a specific AChE inhibitor in the test. Comparable rates for the AFP test were less favourable. (For example, the open spina bifida detection rate was 90 per cent and the false-positive rate was 0.46 per cent using the cut-off levels specified in the U.K. Collaborative AFP Study.) The AChE false-positive rate was lower in samples that were not bloodstained (0.16 per cent) than in those that were (2.4 per cent). It was higher in women who had an amniocentesis on account of a raised maternal serum AFP level (0.56 per cent) than in those who had one for other reasons (0.29 per cent). The best results were obtained by a combination of the two tests, an effective and economical policy being to perform the AFP measurement on all amniotic fluid samples and an AChE test on samples with AFP levels greater than or equal to 2.0 multiples of the normal median (about 5 per cent of all samples). Using this policy, the open spina bifida detection rate was 96 per cent and the false-positive rate was 0.14 per cent (0.06 per cent for samples that were not bloodstained and 1.2 per cent for those that were; 0.40 per cent for women with raised serum AFP levels and 0.09 per cent for other women). This policy offers a useful improvement to the prenatal diagnosis of open spina bifida.     

β-glucuronidase deficiency: Identification of an affected fetus with simultaneous sampling of chorionic villus and amniotic fluid

Four pregnancies at risk for mucopolysaccharidosis VII were monitored by chorionic villus sampling obtained in the first or second trimester of gestation. One fetus showed reduced β-glucuronidase activity following simultaneous sampling of chorionic villus and amniotic fluid at 17 weeks of gestation. The pregnancy was terminated. Subsequent assay of β-glucuronidase activity in the fetal tissues was consistent with a diagnosis of mucopolysaccharidosis VII, thus confirming that chorionic villus samples provide useful information for diagnosis of this condition.