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.     

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Human appropriation of net primary production as determinant of avifauna diversity in Austria

The relationship between land-use induced changes in production ecology and avifauna diversity was analysed using a GIS land cover dataset on a 0.25 km × 0.25 km grid covering Austria's national territory. Considering only aboveground processes, the “human appropriation of net primary production” (HANPP = potential NPP − NPP_t), actual NPP (NPP_act), harvest (NPP_h) and NPP_t (= NPP_act − harvest) were recalculated based on existing datasets. Elevation as well as indicators of land cover heterogeneity and landscape heterogeneity were also considered. Correlation analyses were performed between these potential determinants of avifauna diversity and breeding bird species richness data as well as the percentage of endangered breeding birds included in the Austrian red list. Four spatial scales—0.25 km × 0.25 km, 1 km × 1 km, 4 km × 4 km and 16 × 16 km, were analysed. It was shown that breeding bird species richness was more strongly correlated with production ecological indicators and elevation than with heterogeneity indicators. A residual analysis in which the effect of elevation (a proxy for climate) on species richness and its potential determinants was removed confirmed the importance of the availability of trophic energy (NPP) for bird diversity patterns. The results support the species-energy hypothesis, thus confirming the notion that HANPP could be a useful pressure indicator for biodiversity loss.