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.     

Serum PAPP-A measurements in first-trimester screening for Down syndrome

Serum PAPP-A measurements taken from 254 women in the first trimester are reported. Eleven chromosomal abnormalities were detected. The mean serum PAPP-A levels in cases of Down syndrome were 0.44 MOM at 9 weeks gestation, 0.15 MOM at 10 weeks, and 0.29 MOM at 11 weeks. The PAPP-A level at 10 weeks was below those of pregnancies which aborted spontaneously. At 11 weeks, the pregnancies with Down syndrome recorded the lowest PAPP-A levels at that gestation. On this small sample, offering chorionic villus sampling to women with singleton pregnancies and a PAPP-A level below 0.3 MOM (approximately 6.5 per cent of this at-risk group) would have detected all the Down syndrome fetuses at 10 weeks and 50 per cent at 11 weeks without selecting those cases destined to abort. This suggests that serum PAPP-A should continue to be investigated as a potential first-trimester screening test for Down syndrome.     

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     

Non-aqueous electrolyte solutions

Non-aqueous electrolyte solutions are nowadays intensively studied owing to their unique properties for their application in various electrochemical devices and procedures. Important advances have already been made in high-energy primary batteries, wet capacitors, electroplating, phase-transfer catalysis and electro-organic synthesis; advances are expected in further fields such as high-energy secondary batteries, non-emissive displays, solar cells, thin-film procedures and coating. A survey is given both for successful recent applications and expectations.     

First-trimester prenatal diagnosis of Sanfilippo C disease

At 10 weeks' gestation, chorionic villus biopsy was obtained from a woman at risk for Sanfilippo type C disease. Acetyl-CoA: α-glucosaminide N-acetyltransferase activity was markedly deficient. The pregnancy was terminated at 12 weeks' gestation and follow-up study on fetal fibroblasts confirmed the diagnosis.