The cerebro-hepato-renal (Zellweger) syndrome: Prenatal detection based on impaired biosynthesis of plasmalogens

Prenatal diagnosis of the cerebro-hepato-renal (Zellweger) syndrome has been performed in 10 pregnancies at risk by measuring both the activity of acyl CoA: dihydroxyacetonephosphate acyltransferase (DHAP-AT) and the de novo plasmalogen biosynthesis, either in cultured amniotic fluid cells or in fibroblasts cultured from a chorionic villus biopsy. In 7 of the pregnancies both tests indicated no abnormality. All 7 continued to term and normal infants were delivered. However, in amniotic fluid cells from 2 fetuses affected by Zellweger syndrome unequivocal differences from control values were found. The activity of DHAP-AT was clearly deficient and the de novo plasmalogen biosynthesis was impaired. In one pregnancy at risk prenatal diagnosis was performed during the first trimester by measuring both the DHAP-AT activity and the de novo plasmalogen biosynthesis in fibroblasts cultured from a chorionic villi biopsy. From the deficient DHAP-AT activity and the impaired de novo plasmalogen biosynthesis it was concluded that the fetus was affected. This was confirmed biochemically after induced abortion. It can be concluded that measurement of the DHAP-AT activity and the de novo plasmalogen biosynthesis provides convenient methods for the early prenatal detection of Zellweger syndrome.     

SBR法运行控制工艺研究进展

SBR法是一种具有独特的优点的废水生物处理工艺，但至今还没有一套公认的运行控制工艺，本文从SBR法的启动，充水时间及反应时间的确定，模糊控制，目标控制操作等几方面对SBR工艺的运行控制做了评述，并对其今后的研究方向做了展望。     

积极推行ISO14000，促进中国商品的出口

介绍了国际贸易中的环境壁垒问题，提出了解决环境壁垒，促进中国商品出口的具体办法。     

广东沿岸海域生物可利用性重金属的地理分布

利用牡蛎做监测生物，研究了广东沿岸海域生物可利用性重金属Ｃｄ，Ｃｕ和Ｚｎ的地理分布。牡蛎体的Ｃｄ，Ｃｕ和Ｚｎ含量存在着显著的地域差异，反映了广东沿岸海域生物可利用性的Ｃｄ，Ｃｕ和Ｚｎ在地域上存在很大的梯度。由牡蛎显示出的广东沿岸海域生物可利用性重金属的地理分布与广东沿岸海域受人为来源的重金属输入状况相一致，如实地反映了广东沿岸海域重金属污染的基本特征。     

水深变化对波高与周期联合概率密度分布影响的分析

本文研究了水深的变化以波高与周期联合概率密度分布造成影响。本文将２３６组实测数据按水深因子Ｈ的大小进行了分组，分别对其进行了谱分析和统计分析，得到了各组数据的联合分布图。利用数值模拟的方法扩大水深因子的变化幅度，得到了模拟联合分布图。研究发现，水深因子的改变不会对联合分布构成大的影响，因此得现一般水的波高与周期联合概率密度分布模式适用于浅海的结论。     

Solid phase extraction of methomyl and thiodicarb from environmental water with an activated carbon cartridge and their determination by HPLC

ＩｎｔｒｏｄｕｃｔｉｏｎＢｏｔｈｍｅｔｈｏｍｙｌａｎｄｔｈｉｏｄｉｃａｒｂａｒｅＮｍｅｔｈｙｌｃａｒｂｍａｔｅｐｅｓｔｉｃｉｄｅｓ.Ｍｅｔｈｏｍｙｌｉｓｅｆｆｅｃｔｉｖｅｏｎａｗｉｄｅｒａｎｇｅｏｆｉｎｓｅｃｔｓａｓａｎｏｖｉｃｉｄｅ,ｌａｒｖｉｃｉｄ...     

Conceptual understandings of the ecological engineering issues: in China and abroad

ＩｎｔｒｏｄｕｃｔｉｏｎＡｓａｎｅｗｂｒａｎｃｈｏｆｅｃｏｌｏｇｙａｎｄａｎｉｎｔｅｒｄｉｓｃｉｐｌｉｎａｒｙｆｉｅｌｄ,ｔｈｅｅｃｏｌｏｇｉｃａｌｅｎｇｉｎｅｅｒｉｎｇｗａｓｉｎｉｔｉａｌｌｙｆｏｒｍｕｌａｔｅｄｉｎｔｈｅｅａｒｌｙ1960ｓ.Ｄｕｒｉｎ...     

Maternal serum inhibin levels in second-trimester down's syndrome pregnancies

Maternal serum inhibin levels were measured in 19 second-trimester pregnancies affected by fetal Down's syndrome and 95 unaffected control pregnancies matched for gestational age. A statistically significant elevation was found in the affected pregnancies compared with the controls (Wilcoxon rank sum test: one-tail P=0·02). The median level in the cases was 1·3 times that in the controls, with 95 per cent confidence limits of 0·9–1·9. Although the inhibin levels were unrelated to those of alpha-fetoprotein and unconjugated oestriol in the same samples, there was a statistically significant correlation with human chorionic gonadotropin. This together with the relatively small elevation in cases suggests that inhibin would be of limited value in maternal serum screening for Down's syndrome.     

Early amniocentesis at 11–14 weeks' gestation for the diagnosis of fetal chromosomal abnormality—a clinical evaluation

Early arnniocentesis between 11 and 14 weeks' gestation was offered to 110 women at risk of a chromosomally abnormal fetus due to maternal age. Four were found to be unsuitable for the procedure, and 106 early amniocenteses were performed. In 102 cases, clear amniotic fluid was obtained with a single tap. There were two dry taps and two bloodstained tapis; sampling was repeated in three of these cases before 15 weeks. In the fourth case, placental biopsy was performed at 16 weeks. Thus, we were able to obtain a satisfactory sample in all but three cases(2.8 percent). Karyotyping of cells harvested from the early amniotic fluid samples was successful in all the 105 cases. Cell culture from the initial samples revealed a normal karyotype in 99 cases, two balanced translocations, two tetraploid karyotypes, and two cases of pseudomosaicism. Of the 105 pregnancies successfully sampled, there have been two losses to date (1–8 per cent). Two further patients presented with premature rupture of membranes, both pregnancies having successful outcomes. Sixty-two babies have delivered to date, with four congenital anomalies. There were no respiratory problems. Twenty-nine pregnancies are continuing without known complications, and details are not yet available on the remaining 12. The results indicate that early arnniocentesis may replace the traditional test at 15–17 weeks.     

Prenatal diagnosis of a mosaic 46,XY/47,X,i (Xq)Y

A case of mosaic 46,XY/47,X,i(Xq)Y is diagnosed at 18 gestational weeks in amniotic fluid cells and confirmed at birth in the lymphocytes of the child. The literature on Klinefelter's syndromes with structural chromosome X rearrangements is reviewed. This is the first case reported of a mosaic isochromosome Xq in a boy.