Prenatal diagnosis of Opitz (BBB) syndrome in the second trimester by ultrasound detection of hypospadias and hypertelorism

Prenatal diagnosis in a kindred with the Opitz (BBB) syndrome is presented. The inheritance is consistent with either autosomal dominant inheritance with sex limited expression or X-linked inheritance. The abnormalities in the kindred consist of hypertelorism, hypospadias, ambiguous genitalia, urocolic fistula, imperforate anus, mental retardation, diaphragmatic hernia, and malrotation with volvulus. A male fetus at 19 weeks was found by ultrasound to have hypertelorism and hypospadias with a small phallus consistent with the syndrome. The diagnosis was confirmed by pathologic examination after pregnancy termination. This is the first report of prenatal diagnosis of Opitz syndrome by ultrasonographic demonstration of hypertelorism and hypospadias in the second trimester.     

Fetal urinary insulin-like growth factor I and binding protein 3 in bilateral obstructive uropathies

Fetal urinary concentrations of insulin-like growth factor I (UIGF-I) and binding protein 3 (UIGFBP-3) were determined in patients with prenatal diagnosis of bilateral obstructive uropathy. Patients were retrospectively assigned to three groups, on the basis of outcome: group 1, termination of pregnancies (n = 11) with sonographic evidence of severe oligohydramnios or renal dysplasia, confirmed at histological examination; group 2, patients (n = 10) with postnatal plasma creatinine > 50 μmol/1 at the age of 1 year (1 yr-pCreat); and group 3, patients (n = 16) with 1 yr-pCreat ≤ μmol/1. The results show a significant increase in UIGF-I and UIGFBP-3 in groups 1 (18 159 ± 9083 pg/ml; 2657 ± 669 ng/ml) and 2 (1574 ± 847 pg/ml; 176 ± 50 ng/ml) in comparison with group 3 (35 ± 6 pg/ml; 21 ± 2 ng/ml). UIGF-I and UIGFBP-3 were significantly correlated with postnatal plasma creatinine, and were both sensitive (90 per cent; 80 per cent) and specific (88 per cent; 88 per cent) for prediction of elevated 1 yr-pCreat (>50 μmol/1). Fetal urinary IGF-I and IGFBP-3 are increased in severe fetal bilateral obstructive uropathy, possibly reflecting tubular dysfunction or/and increased synthesis consequent upon fetal kidney injury. Their predictive value for postnatal renal function needs further assessment.     

Prenatal diagnosis and post-mortem study of a fetus with mosaic trisomy 14 due to a dic(14)(p11)

Amniocentesis at 17 weeks' gestation revealed a mosaic karyotype—46,XX/46,XX, — 14,+dic(14)(p11). No abnormalities were detected on ultrasound. Growth and placentation were normal. The fetus was examined after termination of pregnancy and micrognathia and pulmonary hyperlobation were the only abnormalities detected. Several tissues were set up for cytogenetics, including fetal skin, kidney, ovary, and placenta. The diagnosis was confirmed by these studies. The level of mosaicism varied between tissues, with the trisomy 14 cell line highest in amniotic fluid.     

土壤中嗪草酮迁移和降解的研究

 通过两季马铃薯大田试验，研究了嗪草酮在灌溉沙壤土中的消失和移动情况。结果表明，表层土壤中，嗪草酮施用后最初7～15天内其含量急剧降低，此后随时间推移降低幅度平缓，1993年和1994年试验结束时的残留量分别为5.9μg/kg和2.3μg/kg。两年共采集的379个土样（分布在15～75cm各土层）中只有5个检测到有嗪草酮。1994年大田135cm土层处的水样中，嗪草酮的检测率高达66％，检测浓度范围为0.06～15.85μg/kg，平均浓度为1.94μg/kg。相比较，嗪草酮在大田试验中的消失速率远大于实验室控制条件下的降解速率。     

Prenatal diagnosis of GM2-gangliosidosis B1 variant

Prenatal diagnosis in a pregnancy at risk for a juvenile B1 variant of GM₂-gangliosidosis was carried out. The biochemical study of the cultured amniocytes and the affected fetal brain is reported. The results obtained show that the sulphated artificial substrate can be used in the diagnosis of B1 variant, but not the neutral one. The accumulation of GM₂-ganglioside in the fetal brain of the B1 juvenile form and an infantile form of GM₂-gangliosidosis (0 variant) was compared.     

Hepatic calcifications in a fetus with trisomy 9 that underwent cordocentesis

Foci of calcification were observed at autopsy in the liver of a fetus with complete trisomy 9 on which two cordocenteses had been performed. It is suggested that liver calcifications are a possible complication of the procedure. As several other cases of calcifications in the liver and other organs of fetuses with autosomal trisomies have been described without a history of cordocentesis, further studies should be carried out to determine whether fetuses with chromosomal anomalies are more prone to thrombus formation and embolization.     

Gas chromatographic separation and determination of chloroanthracene isomers on fly ash

An efficient, reproducible and rapid fused silica capillary column gas chromatographic method, in splitless mode, for analysing of the three chloroanthracene isomers is described. The method affords efficient separation and good linearity for each isomer in the range of 0.2 -200 μg/ml. The method can also be used in separation and determination of another thirty three aromatic and their halosubstituted compounds. This paper also presents the applications of the method in analysing of complex products mixture from reaction of the selected aromatic compounds with hydrogen chloride on fly ash surface from municipal incinerator.     

Status of air pollution in Beijing

A study has been made on elements organic constituents, TSP, SO2,NO2 of atmospheric pollutants in Beijing. 17 elements, and some PAHs, e. g. B(a)P, B(b, j, k)P, and B(g, h, i)P, in airborne particles by X-ray fluorescence spectroscopy and HPLC, GC/MS, have been determined respectively. It has been shown that the elements Pb, Zn, S and Cu were more enriched in fine particles and different valence states of sulfur at various sites. It was found that the concentrations of S6+ and S2-were more than 85% and less than 15% of the total sulfur respectively. Concentrations of major PAHs and sulfur-containing compounds increased in winter and in urban area. High values for Pb and Zn in city, Fe and Mn at industrial area and Cu, Al rural sites were obtained respectively. This implies the functions of different elemental sources of various sites. Thus, elements can be from distingushed anthropogenic and natural sources.The main contribution of SO2 was found of to have same seasonal variation as the anthropogenic el