Prenatal diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in a family with a previous fatal case of sudden unexpected death in childhood

Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is a potentially fatal inherited disease with a carrier frequency of approximately 1:100 in most Caucasian populations. The disease is implicated in sudden unexpected death in childhood. A prevalent disease-causing point mutation (A985G) in the MCAD gene has been characterized, thus rendering diagnosis easy in the majority of cases. Since the clinical spectrum of MCAD deficiency ranges from death in the first days of life to an asymptomatic life, there are probably other genetic factors—in addition to MCAD mutations—involved in the expression of the disease. Thus, families who have experienced the death of a child from MCAD deficiency might have an increased risk of a seriously affected subsequent child. In such a family we have therefore performed a prenatal diagnosis on a chorionic villus sample by a highly specific and sensitive polymerase chain reaction (PCR) assay for the G985 mutation. The analysis was positive and resulted in abortion. We verified the diagnosis by direct analysis on blood spots and other tissue material from the aborted fetus and from family members.     

Muskox status,recent variation,and uncertain future

Ambio - Muskoxen (Ovibos moschatus) are an integral component of Arctic biodiversity. Given low genetic diversity, their ability to respond to future and rapid Arctic change is unknown, although...     

Interaction webs in arctic ecosystems: Determinants of arctic change?

How species interact modulate their dynamics, their response to environmental change, and ultimately the functioning and stability of entire communities. Work conducted at Zackenberg, Northeast Greenland, has changed our view on how networks of arctic biotic interactions are structured, how they vary in time, and how they are changing with current environmental change: firstly, the high arctic interaction webs are much more complex than previously envisaged, and with a structure mainly dictated by its arthropod component. Secondly, the dynamics of species within these webs reflect changes in environmental conditions. Thirdly, biotic interactions within a trophic level may affect other trophic levels, in some cases ultimately affecting land–atmosphere feedbacks. Finally, differential responses to environmental change may decouple interacting species. These insights form Zackenberg emphasize that the combination of long-term, ecosystem-based monitoring, and targeted research projects offers the most fruitful basis for understanding and predicting the future of arctic ecosystems.     

Multi-elemental EDXRF mapping of polluted soil from former horticultural land

The distribution of major and trace elements was systematically investigated by use of energy dispersive X-ray fluorescence spectrometry (EDXRF) on a former horticultural soil. The purpose of the study was to combine mapping of soil element concentration levels with multivariate statistics for characterisation of soil metal pollution in relation to previous and present land use. A 1-ha study site was chosen from a former horticulture where a previous preliminary survey indicated increased concentration levels of toxic elements. The soil was sampled from the top 20 cm of the soil surface in a 10 x 10-m grid-like pattern covering the 1-ha study area. In addition, three soil profiles were studied. The elemental composition of the soil samples was investigated by EDXRF while the composition of aqueous soil extracts was determined by total reflection X-ray fluorescence spectrometry (TXRF). Based on mapping and multivariate statistically analysis of the data obtained by EDXRF, most elements were found in almost constant concentration levels in the top soil throughout the investigated site. However, the contents of the toxic elements Zn, Cu, As, and Pb were found to vary significantly within the area. Hence, the samples with high accumulations of As also contained relatively high amounts of Zn, Cu, and Pb, which indicates that toxic-element-containing pesticides have been applied to the soil surface in the area of the former green houses at the study site. The Pb/As mass ratio in the soil indicates that PbHAsO3 was the preferential lead arsenate used for pest management at the investigated site, while Cu as Bordeaux liquid (CuSO4) and Zn were applied to minimize the leaf damaging effect from the former compounds. Calculations indicated that As annually was applied to the soil in the former greenhouses in doses up to 4 kg As/ha while Pb had been annually applied in doses up to 12 kg Pb/ha. The enrichment of Zn, Cu, As and Pb was greatest in the top 20 cm of the soil and no anthropogenic enrichment of these elements occurred below a depth of 50 cm, indicating that the toxic elements are rather immobile in this soil. The results of this investigation suggest that EDXRF used in combination with multivariate statistics is a strong tool for multi-element mapping of elemental contents, sources and mobility in the terrestrial environment.     

Circumpolar status of Arctic ptarmigan: Population dynamics and trends

Rock ptarmigan (Lagopus muta) and willow ptarmigan (L. lagopus) are Arctic birds with a circumpolar distribution but there is limited knowledge about their status and trends across their circumpolar distribution. Here, we compiled information from 90 ptarmigan study sites from 7 Arctic countries, where almost half of the sites are still monitored. Rock ptarmigan showed an overall negative trend on Iceland and Greenland, while Svalbard and Newfoundland had positive trends, and no significant trends in Alaska. For willow ptarmigan, there was a negative trend in mid-Sweden and eastern Russia, while northern Fennoscandia, North America and Newfoundland had no significant trends. Both species displayed some periods with population cycles (short 3–6 years and long 9–12 years), but cyclicity changed through time for both species. We propose that simple, cost-efficient systematic surveys that capture the main feature of ptarmigan population dynamics can form the basis for citizen science efforts in order to fill knowledge gaps for the many regions that lack systematic ptarmigan monitoring programs.

     

TEMPO-Mediated Oxidation of Norway Spruce and Eucalyptus Pulps: Preparation and Characterization of Nanofibers and Nanofiber Dispersions

This study deals with 2,2,6,6-tetramethylpiperidine-1-oxyl (TEMPO)-mediated oxidation of cellulose. Softwood and hardwood pulp fibers were suspended in water and oxidized to various extents at pH 10 and 22 °C using sodium hypochlorite in the presence of TEMPO radical and sodium bromide. This reaction system is known to be the most efficient one for the introduction of both surface carboxyl and aldehyde groups. Important relationships between formation of these functional groups and the fibrillation yield, light transmittance of the water dispersions and degree of polymerization of the oxidized softwood and hardwood pulps were established in the present study. A birefringence test confirmed the presence of nanofibers which according to atomic force microscopy analyses had diameters in the 1.6–3.8 nm range.     

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.     

Lack of sequestration of host plant glucosinolates in <Emphasis Type="Italic">Pieris rapae</Emphasis> and <Emphasis Type="Italic">P. grarricae</Emphasis>

Summary. Sequestration of plant toxins in herbivores is often correlated with aposematic coloration and gregarious behaviour. Larvae of Pieris brassicae show these conspicuous morphological and behavioural characteristics and were thus suggested to sequester glucosinolates that are characteristic secondary metabolites of their host plants. P. rapaeare camouflaged and solitary, and are thus not expected to sequester. To test this hypothesis and to check the repeatabi-lity of a study that did report the presence of the glucosinolate sinigrin in P. brassicae, larvae were reared on three species of Brassicaceae (Sinapis alba, Brassica nigra and Barbarea stricta), and different leaf and insect samples were taken for glucosinolate analysis. The major host plant glucosinolates could only be found in traces or not at all in larval haemolymph, bled or starved larvae, faeces or pupae of both species or P. brassicae regurgitant. Haemolymph of both Pieris spp. was not rejected by the ant Myrmica rubra in dual-choice assays; the regurgitant of P. brassicae was rejected. This suggests the presence of compounds other than glucosinolates that might be sequestered in or produced by P. brassicae only. In faeces of both Pieris spp. a compound which yielded 4-hydroxybenzylcyanide (HBC) upon incubation with sulfatase was detected in high concentrations when larvae had been reared on S. alba. This compound may be derived from hydrolysis of sinalbin, the main glucosinolate of that plant. The unidentified HBC progenitor was apparently not sequestered in the two Pieris spp., and was not detected in faeces of larvae reared on B. nigra or B. stricta. Received 18 July 2002; accepted 11 September 2002.