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301.
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. 相似文献
302.
Prenatal diagnosis on chorionic villous tissue was performed for a woman with the karyotype 46,XX,t(2;18)(q32;q12)—a subtle ‘difficult’ translocation. The case illustrates the necessity of good quality cytogenetics for accurate prenatal diagnosis. For chorionic villi this can be obtained only with long-term culture. 相似文献
303.
P. A. Hurley Mr R. H. T. Ward B. Teisner R. K. Iles M. Lucas J. G. Grudzinskas 《黑龙江环境通报》1993,13(10):903-908
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. 相似文献
304.
A laboratory scale study was conducted to assess the feasibility of the new coupling of rotating biological contactor (RBC) plus porous biomass support system (PBSS) using polyurethane foam as porous support media to biodegrade petroleum refinery wastewater. Polyurethane foam was attached on disks of two four-stage laboratory scale cascade connected RBC units.The two RBC units were operated simultaneously at different but constant, flowrates giving hydraulic loading rates of 0.01, 0.02, 0.03, 0.04 m3/m2/d in two runs keeping the same rotational speed 10 r/min throughout. Organic loading was a less controllable factor in this study.For all of the hydraulic loadings, it was found that the removal efficiency of total chemical oxygen demand (TCOD) and oil were above 80 percent. Ammonia nitrogen and phenol removal were above 90 and 80 percent respectively. The maximum biomass concentration within polyurethane foam was about 30 g/m2 in the first stage for 0.03 m3/m2/d hydraulic loading.The results show that t 相似文献
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307.
Prenatal diagnosis of Sandhoff disease (infantile onset) at 16 weeks gestation has been made by detection and analysis of N-acetylglucosaminyl-oligosaccharides in amniotic fluid using high performance liquid chromatography. The elution profile for the branched chain oli-gosaccharides was identical with that obtained with neonatal and infantile Sandhoff urine. The concentration of the oligosaccharides in the fluid was 1/100th that of urine but when calculated relative to creatinine the levels were similar. No oligosaccharides were detected in normal control amniotic fluids (10 patients) at a similar gestational age. Based on the levels of the amniotic fluid oligosaccharides and the sensitivity limits of the assay, prenatal diagnosis of patients with the juvenile onset form of the disease may also be possible with this technique. 相似文献
308.
309.
M. Schwartz M. Super J. Schmidtke C. Buys M. Farrall D. Halley M. Krawczak J. E. Poncin D. Loukopoulos M. Devoto 《黑龙江环境通报》1988,8(8):619-624
This paper presents data collected in Europe on 107 prenatal diagnoses of cystic fibrosis (CF) using linked DNA markers. To date, 38 children have been born without CF, as predicted, demonstrating the present rapid move from research to clinical genetic service. 相似文献
310.