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.     

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.     

A participatory approach to the establishment of a baseline scenario for a reforestation Clean Development Mechanism project

This paper is part of a two-year study to investigate the feasibility of initiating a Clean Development Mechanism (CDM) project in an indigenous community of Eastern Panamá, Ipetí-Emberá. We use participatory mapping and matrices as well as household surveys to develop a land-use/land-cover baseline scenario and examine the role of local participation in assessing land-use change. In Ipetí, land-use change has not occurred in a linear way over the last decades, and our data unveils socio-economic factors as potential key drivers of change. The concordance that we observed between geographic information and individual and collective perceptions of land-use change substantiates the possibility of using local knowledge in the establishment of baseline data for CDM projects. Our calculations suggest that the total carbon (C) stocks in the Tierra Colectiva (TC) of Ipetí-Emberá in 2004 represents a 47% reduction from the estimated C stock at the onset of settlement in the early 1970’s. Results from the participatory assessments predict that, in 2024 and in absence of a CDM project, the C stocks will decline from 301,859 t C in 2004 to 155,730 t C, which constitutes a reduction of 52%. The scenario with CDM estimates C stocks of 305,853 t C for 2024, a value slightly superior to the 2004 value. In the TC there is ground to believe that cattle ranching is likely to become an ever more important activity as the population is young and growing and cannot easily move elsewhere. Forests tend to be cleared for cultivation while pastures are established on short fallows. Our baseline scenario underlines the potential for a CDM project to make a significant difference in the future C stocks of this landscape.     

Prenatal diagnosis of infantile GM 2 gangliosidosis type II (sandhoff disease) by detection of N-acetylglucosaminyl-oligosaccharides in amniotic fluid with high-performance liquid chromatography

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.     

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.