Prenatal diagnosis of medium-chain acyl-coenzyme A dehydrogenase deficiency

A fatal case of medium-chain acyl-coenzyme A dehydrogenase deficiency is described in a patient who presented with hypoglycaemia and a gross non-ketotic dicarboxylic aciduria. Cultured skin fibroblasts released ¹⁴CO₂ from [1–¹⁴C] octanoic acid at half the normal rate. Prenatal diagnosis was undertaken in a subsequent pregnancy in which cultured amniotic fluid cells revealed a marked reduction in octanoate oxidation indicative of an affected fetus. The pregnancy was terminated and the diagnosis was confirmed by enzyme analysis of skin fibroblasts taken from the fetus. The high residual octanoate oxidation by affected fibroblasts together with the absence of any characteristic abnormality of amniotic fluid organic acids are a potential limitation to the reliability of this type of prenatal diagnosis.     

Environmental justice of nuclear waste policy in Taiwan: Taipower, government, and local community

This paper is an investigation into Taiwan’s policy on nuclear waste disposal, concentrating on the ways in which dumping sites have been chosen, and on the wider implications of those choices. The central aim was to examine whether this policy breached the distributive and procedural principles of environmental justice by discriminating against disadvantaged areas and minority ethnic groups. The paper first clarifies the meaning of environmental justice and then applies it to the case study of Taiwan’s decision announced in 2009 that Da-Ren (達仁鄉) in Taitung County (台東縣) and Wang-An (望安鄉) in Penghu County (澎湖縣) were its two favoured potential sites for the final disposal repository of radioactive waste. The findings of the research suggest that the Taiwan government and the nuclear power provider, Taipower, failed to fulfil the requirements of environmental justice in reaching this decision. The contribution of this case study to the literature on the environmental injustice of nuclear waste siting policies is fourfold. First, it adds to the growing number of studies that show how siting decisions systematically and deliberately disadvantage vulnerable communities. Second, it finds the basis of this discriminatory policy to lie in the wider pattern of inequality that exists in Taiwanese society—a pattern that is rooted in historical traditions of racial and tribal prejudice, reinforced by contemporary forms of corruption. Third, it suggests that a solution to the problem of environmental injustice in nuclear waste siting policy may have to wait until these broader practices of unequal treatment in Taiwan are addressed. Fourth, it speculates that the need for a solution to the nuclear waste problem may be a catalyst for dealing with these broader patterns of unequal treatment.     

Assessing the Potential Effects of Fungicides on Nontarget Gut Fungi (Trichomycetes) and Their Associated Larval Black Fly Hosts

Fungicides are moderately hydrophobic and have been detected in water and sediment, particularly in agricultural watersheds, but typically are not included in routine water quality monitoring efforts. This is despite their widespread use and frequent application to combat fungal pathogens. Although the efficacy of these compounds on fungal pathogens is well documented, little is known about their effects on nontarget fungi. This pilot study, a field survey in southwestern Idaho from April to December 2010 on four streams with varying pesticide inputs (two agricultural and two reference sites), was conducted to assess nontarget impact of fungicides on gut fungi, or trichomycetes. Tissues of larval black flies (Diptera: Simuliidae), hosts of gut fungi, were analyzed for pesticide accumulation. Fungicides were detected in hosts from streams within agricultural watersheds but were not detected in hosts from reference streams. Gut fungi from agricultural sites exhibited decreased percent infestation, density and sporulation within the gut, and black fly tissues had elevated pesticide concentrations. Differences observed between the sites demonstrate a potential effect on this symbiotic system. Future research is needed to parse out the details of the complex biotic and abiotic relationships; however, these preliminary results indicate that impacts to nontarget organisms could have far‐reaching consequences within aquatic ecosystems.     

Why geodiversity matters in valuing nature's stage

Geodiversity—the variability of Earth's surface materials, forms, and physical processes—is an integral part of nature and crucial for sustaining ecosystems and their services. It provides the substrates, landform mosaics, and dynamic physical processes for habitat development and maintenance. By determining the heterogeneity of the physical environment in conjunction with climate interactions, geodiversity has a crucial influence on biodiversity across a wide range of scales. From a literature review, we identified the diverse values of geodiversity; examined examples of the dependencies of biodiversity on geodiversity at a site‐specific scale (for geosites <1 km² in area); and evaluated various human‐induced threats to geosites and geodiversity. We found that geosites are important to biodiversity because they often support rare or unique biota adapted to distinctive environmental conditions or create a diversity of microenvironments that enhance species richness. Conservation of geodiversity in the face of a range of threats is critical both for effective management of nature's stage and for its own particular values. This requires approaches to nature conservation that integrate climate, biodiversity, and geodiversity at all spatial scales.     

Horizontal and vertical trends in the distributions of larval fishes in coastal waters off central New South Wales,Australia

Larval fishes were sampled across six transects perpendicular to a 50 km section of the coast off Sydney, Australia, in April/May and August/September 1990. Samples were collected at the surface and at depth (20 to 30 m) at three locations across each transect; over the 30, 70 and 100 m depth contours. There was a large level of heterogeneity in the horizontal and vertical distributions of most taxa examined, and no general pattern of distribution was evident for the whole assemblage. Classification analyses revealed that the major differences between assemblages were related to depth. Horizontal trends in the distributions of the abundant taxa were evident in the inshore-offshore direction, but not longshore. Seven taxa belonging to the families Gobiidae, Labridae, Sillaginidae, Sparidae, Ambassidae, Clupeidae and Clinidae/Tripterygiidae were most abundant inshore, whereas 4 taxa of the families Cepolidae, Percichthyidae, Cheilodactylidae and Gonorynchidae were generally more abundant offshore and 24 taxa showed no discrete horizontal trends across transects. More taxa and individuals were generally caught at depth than at the surface and this was evident across all transects. Twenty taxa were more numerous at depth, whereas 4 taxa, the Cheilodactylidae, Gonorynchidae, Mullidae and Scorpididae, were most abundant at the surface and 11 taxa showed no difference in densities between depths. Ontogenetic differences in the distributions of some larvae were evident. The mean size of larval Liza argentea (Mulgilidae) caught was greater offshore than inshore, and greater at the surface than at depth. In contrast, larger Pseudocaranx dentex (Carangidae) occurred in greater numbers at depth than at the surface. The data emphasise that the assemblages of larval fishes in coastal waters off central New South Wales cannot be modelled as a single unit, which concurs with the findings in other temperate and tropical vaters. Furthermore, the data denote the need to spatially stratify sampling in these waters in order to assess seasonal changes in these assemblages.     

Nitrogenous excretion by the sediment-living bivalve Nucula tenuis from the Oslofjord,Norway

The resting rate of ammonia excretion for the sediment living bivalve Nucula tenuis (Montagu) was found to be 38.8 gN mg^-1 dw h^-1×10^-4 in August and November 1985 in the Oslofjord. The excretion rate of experimental individuals was 37% higher when placed in artificial glass bead sediment. The regression between dry weight and excretion was logN excretion=1.338+1.192 log x, where excretion is gN individual^-1 h^-1×10^-4 and log x=mg dry weight.     

Fumarylacetoacetase activity in cultured and non-cultured chorionic villus cells,and assay in two high-risk pregnancies

We describe further development of the fumarylacetoacetase (FAA) assay for the prenatal diagnosis of tyrosinaemia type 1 using chorionic villus sampling (CVS). We have established a reference range for FAA activity in cultured villus cells and have confirmed previously reported data on the FAA activity in uncultured chorionic villus cells. This should allow confirmation of results using CVS, without the need for further invasive procedures. We report the FAA enzyme stability at −70°C, +4°C, and at room temperature, and we have shown no obvious difference in enzyme activity with gestational age. We have analysed cultured and non-cultured CVS activity of FAA in two pregnancies at risk of tyrosinaemia type 1. In both, the fetus was designated unaffected, and these results were confirmed postnatally.     

Prenatal exclusion of the hhh syndrome

Prenatal diagnosis of the hyperornithinaemia, hyperammonaemia, and homocitrullinuria syndrome is described by the analysis of ornithine incorporation in second-trimester cultured amniotic fluid cells. An unaffected fetus was predicted and confirmed in the newborn child. This is the third reported prenatal diagnosis for this disorder and the second predicting an unaffected fetus.