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.     

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.     

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.     

Evaluating spectroscopic and chromatographic techniques to resolve dissolved organic matter via end member mixing analysis

Real-time or near real-time in-situ monitoring of dissolved organic matter (DOM) composition in natural waters and engineered treatment systems provides critical information to water quality scientists and engineers, particularly when the monitoring techniques can provide some information about the chemical nature of DOM. The efficacy of various indices derived from rapid, low-cost spectroscopic and chromatographic techniques to discriminate DOM composition was tested for samples prepared from well-defined mixtures of purified Aldrich humic acid (PAHA) and Suwannee River fulvic acid (SRFA). Sensitivities of the discrimination indices were examined by comparing (1) the differences between measured values and those predicted based from mass balance and the end member characteristics, and (2) the linear correlations between index values and mass ratios of the DOM mixtures. Size exclusion chromatography (SEC) results revealed that the weight-average molecular weight (MW(w)) may be a useful approach for tracking DOM mixing processes, although the number-average molecular weight (MW(n)) may be better for distinguishing different DOM compositions. Specific ultraviolet absorbance measured at 254 nm (SUVA(254)) performed better as a discrimination index than did two previously recommended absorbance ratios, both in terms of making better predictions of intermediate compositions and in exhibiting a more linear correlation with PAHA mass ratio. Several well-defined peaks in the derivative absorption spectra (301 and 314 nm for the first derivative, 217 nm for the third derivative, and 211 and 224 nm for the fourth derivative) also were found to be promising potential DOM discrimination indices. Finally, a fluorescence ratio based on humic- versus fulvic-like fluorescence proved to be a superior DOM discrimination index for the two DOM end members studied here. In general, this study illustrates the evaluation process that should be followed to develop rapid, low-cost discrimination indices to monitor DOM compositions based on end member mixing analyses.     

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.     

Fume emissions during gas metal arc welding

The control of exposure to welding fumes is of increasing importance in promoting a healthy, safe and productive work environment. This article describes the effects of shielding gas composition on the amount and composition of welding fumes produced during gas metal arc welding (GMAW). The amount of fumes generated during welding was measured for steady current over a range of wire-feed speeds and arc voltages using the standard procedures contained in ANSI/AWS F1.2 [American Welding Society. ANSI/AWS F1.2. Laboratory method for measuring fume generation rates and total fume emission of welding and allied processes. Miami, Florida; 1992]. Results of these measurements show that the fume formation rates (FFRs) increase with CO₂ and O₂ in the shielding gas mixture. The lowest FFRs were obtained with the mixtures of Ar?+?2%CO₂ and Ar?+?3%CO₂?+?1%O₂. The highest FFRs were obtained with the mixtures of Ar?+?18%CO₂ and Ar?+?5%CO₂?+?4%O₂. The welding fumes contains mainly iron, manganese, silicon, titanium and sodium under oxide forms. The fume cluster particles have dimensions between 0.5 and 2?µm. The FFR was found to be governed by the transfer modes of molten metal, i.e. the current intensity and arc voltage, as well as by the shielding gas mixtures composition. Thus these parameters have to be taken into consideration before designing a welding process. Whenever possible, users of GMAW should use the lowest current intensity. However, when this is not possible, due to the constraints of process productivity, welders should use higher currents, but with Ar?+?2%CO₂ and Ar?+?3%CO₂?+?1%O₂ shielding mixtures, which will lead to smaller fume emissions.     

Circuit-theory applications to connectivity science and conservation

Conservation practitioners have long recognized ecological connectivity as a global priority for preserving biodiversity and ecosystem function. In the early years of conservation science, ecologists extended principles of island biogeography to assess connectivity based on source patch proximity and other metrics derived from binary maps of habitat. From 2006 to 2008, the late Brad McRae introduced circuit theory as an alternative approach to model gene flow and the dispersal or movement routes of organisms. He posited concepts and metrics from electrical circuit theory as a robust way to quantify movement across multiple possible paths in a landscape, not just a single least-cost path or corridor. Circuit theory offers many theoretical, conceptual, and practical linkages to conservation science. We reviewed 459 recent studies citing circuit theory or the open-source software Circuitscape. We focused on applications of circuit theory to the science and practice of connectivity conservation, including topics in landscape and population genetics, movement and dispersal paths of organisms, anthropogenic barriers to connectivity, fire behavior, water flow, and ecosystem services. Circuit theory is likely to have an effect on conservation science and practitioners through improved insights into landscape dynamics, animal movement, and habitat-use studies and through the development of new software tools for data analysis and visualization. The influence of circuit theory on conservation comes from the theoretical basis and elegance of the approach and the powerful collaborations and active user community that have emerged. Circuit theory provides a springboard for ecological understanding and will remain an important conservation tool for researchers and practitioners around the globe.