Prenatal diagnosis of galactosialidosis

The second prenatal diagnosis of galactosialidosis is reported. Neuraminidase and β-galactosidase activities in cultured amniotic cells were deficient, this being confirmed by skin fibroblast enzyme assay on the affected fetus after interruption of the pregnancy. Cultured placental cells demonstrated the same enzyme deficiencies. Analysis of deproteinized amniotic fluid showed the presence of abnormal oligosaccharides specific for a-neuraminidase deficiency.     

Amniotic fluid-AFP in Down syndrome and other chromosome abnormalities

80·2 Per cent of 111 Down syndrome pregnancies had amniotic fluid (AF) alpha fetoprotein (AFP) levels on or below the median and 10·8 per cent at or below 0·5 MoM compared with 41·9 and 1·4 per cent of controls. These differences were even more striking when the gestational age was < 18 weeks compared with ⩾ 18 weeks. No such association was seen for other chromosome abnormalities including trisomy 18,45,X and mosaics, 47,XXY, 47,XXX, and other structural abnormalities and triploidy, even when high levels due to defects such as omphalocele and cystic hygroma were excluded. All cases of trisomy 13 and 80 per cent with 47,XYY had AF-AFP levels above the median. Selection of cases for karyotyping by a low level of AF-AFP would clearly fail to detect aneuploidies other than Down syndrome and is not recommended. A possible weak association between low maternal serum (MS) and AF-AFPs in Down syndrome was most evident at < 18 weeks, suggesting that MS screening between 16 and 18 weeks may be the most informative time.     

水质自动监测中的质量保证与质量控制

质量保证与质量控制是水质自动监测中十分重要的技术工作和管理工作,包括人员素质、运行与管理机制、试剂与标准溶液的配制及文件记录等.在实际工作中,监测人员可根据仪器的运行状况,定期时仪器进行校准、标准溶液的核查、比对实验验证及试剂有效性检查,用以检查仪器的基线飘移情况.如果分析中出现一个异常值,它的前后均为正常值,这种数值大多是由仪器的进样、仪器内部试剂传输等原因所致,如果发生原因不明的数据异常,就要及时检查系统的各个环节并采集实际水样进行人工分析,直至查清原因,剔除异常值,并在周报中加以说明,以确保上报数据的准确性、精密性和可比性.     

False elevation of amniotic fluid enzymes of relevance for prenatal diagnosis: Creatine kinase measurement in relation to duchenne muscular dystrophy

The creatine kinase activity of amniotic fluid was measured in samples collected at fetoscopy. In our first study, the control sample range was 0-25 IU/1, although four samples had activities of 35–85 IU/1. Elevated values did not correlate with the activities in the fetal or maternal circulations. Electrophoresis revealed the presence of the BB isozyme of creatine kinase rather than just the MM form as expected. This suggested that the source of the elevated enzyme activity was from the myometrium, damaged by insertion of the trocar and cannula. In a further series the first 2 ml of amniotic fluid withdrawn yielded a much higher creatine kinase activity than a second aliquot. A control series of such second samples (first 2 ml discarded) gave an activity range of 0–7 IU/1 with no spuriously high values. This compares favourably with a series from single samplings taken by amniocentesis. Normal creatine kinase activities were found in the amniotic fluids from 20 pregnancies at risk for Duchenne muscular dystrophy. We conclude that for accurate measurement of amniotic fluid enzyme activity the first portion withdrawn should be discarded. Amniotic fluid creatine kinase activity is of no value for the prenatal diagnosis of Duchenne muscular dystrophy.     

Oligohydramnios with amnio-chorionic separation at 15–16 weeks' gestation

Nine patients with oligohydramnios and amnio-chorionic separation were identified out of 7000 women who underwent a vaginal ultrasound examination at 15–16 weeks' gestation. Oligohydramnios was defined as a reduced amount of amniotic fluid, a distance of more than 1 cm between the chorion and amnion, and a good turgor of the amnion without floating membranes or intrauterine sheets. Fetal malformations were observed in all nine cases. In four of six fetuses where chromosomal analysis was available, an abnormal karyotype was found. It is concluded that oligohydramnios in the early second trimester is associated with fetal abnormality.     

Prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency by amniotic fluid steroid analysis

The concentration of 17OH-progesterone was measured in second trimester amniotic fluid samples from 12 mothers who previously had had an infant with congenital adrenal hyper-plasia due to 21-hydroxylase deficiency. In 4 affected pregnancies, the concentrations were more than 2 S.D. higher than those determined in 44 samples from normal pregnancies (mean ± S.D., 8·1 ± 2·4 nmol/1). The remaining 8 pregnancies were predicted to be unaffected based on the results of amniotic fluid concentrations within the normal range. In each instance, the infant was normal. The results indicate that measurement of amniotic fluid 17OH-progester-one concentrations during the second trimester is an accurate prenatal test for 21-hydroxylase deficiency. The results should be supplemented with determination of fetal sex by karyotype analysis on the amniotic fluid cells.     

黑褐新糠虾的急性毒性测试方法及在钻井液毒性评价中的作用

于1992年开始在青岛胶州湾西海岸采集黑褐新糠虾（Neomysis awatschensis）并进行实验室的长期驯化培养，在实验室内以4－6d的蚴虾为实验材料，研究了黑褐新糠虾的急性毒性测试方法。比较了黑褐新糠虾和美国一种标准毒性测试实验生物巴西拟糠虾的分类学地位、地理分布和形态，以及标准毒物的敏感性。根据研究结果,建议将黑褐新糠虾作为我国的一种标准毒性测试的实验生物，并将该该方法应用于钻井液及其添加剂的毒性评价，本文将报道以上研究结果及该方法在几种钻井液及添加剂中的毒性评价结果。     

Cultivated cells from mid-trimester amniotic fluids. IV. Cell type identification via one and two-dimensional electrophoresis of clonal whole cell homogenates

Clones of cultivated amniotic fluid cells that have distinct morphologic and growth characteristics (F, AF and E-type) were examined by one-dimensional SDS polyacrylamide gel electrophoresis (SDS-PAGE) and by two-dimensional electrophoresis employing isoelectric focusing and SDS-PAGE (IEF-PAGE). No qualitative differences in band pattern were observed in SDS-PAGE between the various amniotic fluid cell types, but consistent quantitative differences in the ratios of four bands of presumed filamentous proteins provided good distinction between amniotic fluid cells and postnatal skin fibroblast-like cells. By adding separation on the basis of electrical charge to that of molecular size (IEF-PAGE), we observed reproducible qualitative differences in the protein spot patterns between F and both AF and E-type amniotic fluid cells. At least eight discrete proteins appear not to be synthesized by prenatal F-type cells in comparison with their isogenic AF and E counterparts under identical culture conditions. The two-dimensional electrophoretic patterns thus confirm that F and AF amniotic cells, in spite of their morphologic and growth kinetic similarities, are developmentally distinct cell types that retain their differentiated states in culture.     

盐城凹陷凝析油地球化学特征

运用碳同位素、气相色谱、色谱 质谱、流体包裹体技术 ,研究了盐城凹陷凝析油地球化学特征 ,并与永安凹陷永 7井凝析油、下扬子海相原油进行了对比。该凝析油碳同位素为 -2 8 8‰～ 3 0 5‰ ,全油色谱中含有一定的长链正构烷烃 ,Pr/Ph为 1 5 6,三环萜烷含量高 ,伽玛蜡烷含量低 ,重排甾烷含量高 ,C2 9甾烷 >>C2 7甾烷 >C2 8甾烷。石蜡指数、庚烷值表明原油为高成熟凝析油 ,甲基菲指数MPI表明原油为未熟—低熟原油 ,C2 9甾烷 2 0S/ (2 0S+2 0R)值表明原油为成熟原油。这种成熟度的差异可能与不同成熟度原油的混合作用有关。油气主要充注时间为 6～ 1 5Ma。凝析油的主体可能源于泰州组烃源岩 ,凝析油的形成与蒸发分馏作用密不可分     

Preparation of high resolution chromosomes from amniotic fluid cells

A relatively simple method of obtaining high resolution chromosomes from amniotic fluid cells is described. The elongated chromosomes are achieved by adding ethidium bromide (5μg/ml) to the culture 4 1/2 hours before harvesting and the high resolution banding can be produced by usual banding procedures.