Carrier detection and microsatellite analysis of duchenne and becker muscular dystrophy in spanish families

Duchenne and Becker muscular dystrophy (D/BMD) are usually problematical when trying to determine the carrier status of at-risk women, which usually has to be based on haplotype or dosage analysis on Southern blots. Using multiplex polymerase chain reaction (PCR) analysis, we have detected deletions in 20 out of 44 D/BMD families with living affected members (45·5 per cent), more often in sporadic cases of DMD (14/22 with detectable deletion) than in familial ones (4/15), the majority (15/20) occurring in the distal region of the D/BMD gene. Four highly informative short tandem repeat polymorphisms (STRPs), which lie within the distal deletion hot spot of the D/BMD gene, can show loss of heterozygosity in carrier females, providing direct evidence of their carrier status. These STRPs greatly improve informativity, with a combined heterozygosity of 100 per cent and with the majority of families informative for three of the four STRPs. In 14/15 (93 per cent) of the families with distal deletions, the STRPs provided direct information on carrier status, and in some cases, they provide valuable information on recombination breakpoints and non-paternity.     

Euglena gracilis as a model for the study of Cu2+ and Zn2+ toxicity and accumulation in eukaryotic cells

We have observed the effect of copper and zinc on the biology of Euglena gracilis. The cells displayed different sensitivities to these metals, as the apparent LC50 for Cu2+ was 0.22 mM, and for Zn2+ it was 0.88 mM. While Zn2+ was able to increase cell proliferation even at 0.1 mM, the minimal CuCl2 concentration tested (0.02 mM) was sufficient to impair cell division. Higher concentrations of these metals not only inhibited cell division in a concentration-dependent manner, but also interfered with the metabolism of E. gracilis. A higher accumulation of proteins and lipids per cell was observed at the DI50 concentration for metal-treated cells. These results suggest that the test concentration of both metals leads to a failure in completing cell division. Ultrastructural analysis indicated a chloroplast disorganization in copper-treated cells, as well as the presence of electron dense granules with different shapes and sizes inside vacuoles. Microanalysis of these granules indicated an accumulation of copper, thus suggesting a detoxification role played by the vacuoles. These results indicate that E. gracilis is an efficient biological model for the study of metal poisoning in eukaryotic cells. They also indicate that copper and zinc (copper being more poisonous) had an overall toxic effect on E. gracilis and that part of the effect can be ascribed to defects in the structure of chloroplast membranes.     

Effects of moderate pollution on toxic and trace metal levels in calves from a polluted area of northern Spain

This study evaluated the contribution of anthropogenic pollution to toxic metal residues (Cd, Pb and As) in cattle in an industrialized area of Asturias (northern Spain), and investigated possible implications of toxic metal exposure for metabolism of essential metal elements (Cu, Zn, Fe, Mn). Samples of liver, kidney, muscle and blood from animals aged 9-12 months were obtained from an industrialized area (78 calves) and from a rural area (92 calves). Samples were acid-digested, and levels of metals determined by atomic absorption spectrophotometry. Cadmium and lead contents in the liver and kidney were moderately and significantly higher in calves from the industrialized area (Cd: liver 29.6, kidney 161; Pb: liver 38.1, kidney 38.3 microg/kg wet weight) than in calves from the rural area (Cd: liver 22.9, kidney 96.4; Pb: liver 20.7, kidney 15.9 microg/kg kg wet weight). Although these toxic metals were only moderately raised, our results suggest that they may nevertheless have interfered with trace element metabolism, as reported previously for severely polluted regions. Notably, copper levels in calves from the industrialized area were generally low, and nearly half of these animals showed tissue copper levels indicating risk of copper deficiency.     

Distribution and behaviour of radiocaesium in Scottish freshwater loch sediments

The distribution and behaviour of radiocaesium have been studied in the sediments of two contrasting freshwater lochs: Round Loch of Glenhead, an acidified loch in south-west Scotland, with organic-rich sediments (≈20%C) and Loch Lomond, 35 km north-west of Glasgow, where sediments are low in organic matter (1–6%C, southern basin), but with a relatively high clay content. In the sediments of Scottish freshwater lochs,¹³⁷Cs [half life (t_1/2) = 30.23 yr] originates from fallout from nuclear weapons’ testing (1950s and 1960s) and from the Chernobyl reactor accident in 1986, which is also the source of the shorter-lived¹³⁴Cs [half life (t_1/2) = 2.05 yr]. Use of the characteristic¹³⁴Cs/¹³⁷Cs activity ratio of radiocaesium emitted from Chernobyl enables resolution of sedimentary radiocaesium profiles into the two component sources. In the organic-rich sediment of Round Loch, downward diffusion of radiocaesium in porewaters obscures its pattern of input to the loch. In the more clay-rich sediments of Loch Lomond, separate radiocaesium concentration peaks, related to atmospheric deposition maxima, are clearly discernible, although an influence of partial mixing is apparent. While the derived Chernobyl fallout inventory of radiocaesium in Round Loch sediments is broadly comparable with that for Loch Lomond, the corresponding weapons testing inventory is an order of magnitude lower than in Loch Lomond. Although Round Loch is situated in an area of known elevated Chernobyl deposition, the inventory is much lower than literature values of atmospheric deposition, indicating significant loss of radiocaesium from this loch. The weapons testing inventory in Round Loch is also lower than reported estimates, whereas in Loch Lomond the established inventories from both sources are similar to, or greater than, fallout deposition. The differences between the distribution and inventories in the two lakes confirms that radiocaesium is much less efficiently bound and is correspondingly much more mobile in the organic sediments of Round Loch of Glenhead than in the more clay-rich sediments of Loch Lomond.     

The importance of scientific literacy in fostering education for sustainability: Theoretical considerations and preliminary findings from a Brazilian experience

Scientific literacy can be considered as a new demand of post-industrial society. It seems necessary in order to foster education for sustainability throughout students' academic careers. Universities striving to teach sustainability are being challenged to integrate a holistic perspective into a traditional undergraduate curriculum, which aims at specialization. This new integrative, inter- and transdisciplinary epistemological approach is necessary to cultivate autonomous citizenship, i.e., that each citizen be prepared to understand and participate in discussions about the complex contemporary issues posed by post-industrial society. This paper presents an epistemological framework to show the role of scientific literacy in fostering education for sustainability. We present a set of 26 collaborative concept maps (CCmaps) in order to illustrate an instance of theory becoming practice. During a required course for first-year undergraduate students (ACH 0011, Natural Sciences), climate change was presented and discussed in broad perspective by using CCmaps. We present students' CCmaps to show how they use concepts from quantitative and literacy disciplines to deal with the challenges posed by the need of achieving a sustainable development.     

The role of transboundary air pollution over Galicia and North Portugal area

In summer, high levels of ozone (O₃) are frequently measured at both Galicia and Northern Portugal air quality monitoring stations, even exceeding the limit values imposed by legislation. This work aims to investigate the origin of these high O₃ concentrations by the application of a chemical transport modelling system over the northwestern area of the Iberian Peninsula. The WRF–CHIMERE modelling system was applied with high resolution to simulate the selected air pollution episodes that occurred simultaneously in Galicia and North Portugal and in order to study both the contribution of local emission sources and the influence of transboundary pollution. Emission inputs have been prepared based on the development of the Portuguese and Galician emission inventories. The obtained results for O₃ have been evaluated and validated against observations. Modelling results show possible contribution of the transboundary transport over the border of two neighbour regions/countries, indicating that the O₃ episode starts over the urban and industrialised area of North coast of Portugal, reaching the maximum peaks over this region; at the same time, O₃ levels increased over Galicia region, where lower concentrations, but still high, were observed. These results pointed out that air quality management should not be driven by political boundaries and highlight the importance of joining efforts between neighbouring countries.