Rapid molecular prenatal diagnosis of ataxia-telangiectasia by direct mutational analysis

Mutations of the ataxia-telangiectasia-mutated (ATM) gene are responsible for the autosomal recessive disorder ataxia-telangiectasia (A-T). This study reports the first A-T prenatal diagnosis performed in Spain by direct molecular analysis. The pregnant woman had a previous child suffering from A-T due to a deletion in the ATM gene. The ATM coding region was sequenced in the A-T patient and her parents. Then, a specific polymerase chain reaction (PCR) to detect the deletion was performed for prenatal diagnosis. Additionally, polymorphic HLA loci were examined in order to exclude the possible contamination by maternal DNA. In this family of Gypsy origin, we carried out a rapid molecular diagnosis of A-T. Then, a prenatal diagnosis was carried out, identifying the deletion in the fetal DNA. Additionally, we performed a population study in unrelated Spanish Gypsies and in unrelated controls, showing that the deletion described could be a hotspot in the Spanish Gypsy population. The size of the coding region and the genomic structure, together with the absence of hotspots, make the mutation screening of the ATM gene difficult. The ability to identify ATM mutations provides a tool that can be applied in confirmatory diagnosis, genetic counselling, carrier prediction and prenatal diagnosis. Copyright © 2007 John Wiley & Sons, Ltd.     

Mercury, methylmercury, and selenium in blood of bird species from Doñana National Park (Southwestern Spain) after a mining accident

Total mercury (Hg), monomethylmercury (MeHg), and selenium (Se) were determined in blood of 11 bird species living in Doñana National Park (DNP, Southwestern Spain) and the surrounding area in 1999 and 2000 after a mine spill accident. The total Hg contents found varied from 1.00 to 587 ng/mL, with an MeHg percentage higher than 80 %, except in mallard species. In all the cases, the concentrations found were below the threshold of high risk for the bird populations. The parameters which most affected the accumulation of Hg and MeHg in the birds studied were, first, species, or trophic position, and second sampling area. Age does not seem to have a great influence on the content of Hg in the blood of these birds. The levels of Se found ranged from 108 to 873 ng/mL, and they were not affected by species, trophic level, age, or sampling area. The blood Hg concentrations of birds living in the area directly affected by the toxic mud, outside the park, were higher than those found in the other birds, and this could be explained by the mine spill accident happened in 1998.     

Fungal biodegradation of naphthalene: microcosms studies

The present work is aimed to ascertain naphthalene biodegradation capability of P. chrysosporium and T. harzianum in soil microcosms. Considering the high naphthalene volatility, a suitable soil microcosm was set-up and used. Several degradation tests were conducted with different C/N ratio media for the two fungi in order to enquire the best range of working conditions. The kinetic studies were conducted at a maximal naphthalene concentration of 600 mg kg(-1). During experimental time course naphthalene concentration, CO2 evolution as well as phytotoxicity tests were performed as monitoring parameters. The results shown in the current paper, put in evidence that T. harzianum, differently than in liquid culture, is not able to biodegrade naphthalene directly in soil microcosm, while P. chrysosporium in the same conditions biodegrades the PAH till about 600 mg kg(-1). As concern the founded kinetics for P. chrysosporium, a saturation shape in presence of N-limited medium (high C/N ratio) was evaluated while a growing form more than linear in no-N limited medium (normal C/N ratio) was determined.     

PETROLEUM EXPLORATION IN DEVELOPING COUNTRIES AND CONSIDERATIONS ABOUT ITS FINANCING

Although the rate of petroleum produced per foot drilled is much greater in the developing regions of the world, levels of petroleum exploration activities in the these areas are much lower than in the United States. Although exploration levels in the developing countries might have been expected to rise after the 1973/74 price increase, they actually tended to decrease. Classification of the developing countries in terms of the levels of exploration and development they have attained reveals that the greater part of the area with good petroleum potential (57 per cent of non-OPEC countries) is comprised of countries where significant exploration has already taken place. There is a need for international assistance to increase exploration levels in the developing countries. A schedule of priorities for various forms of international assistance is suggested.     

Supported porphyrins for the photocatalytic degradation of organic contaminants in water: a review

Environmental Chemistry Letters - Porphyrins are differentiated π-conjugated compounds with unique photochemical and redox properties. The tetrapyrrole macrocycle core of porphyrins is...     

Assessing spatial variability of ambient nitrogen dioxide in Montréal, Canada, with a land-use regression model

The purpose of this study was to derive a land-use regression model to estimate on a geographical basis ambient concentrations of nitrogen dioxide (NO2) in Montreal, Quebec, Canada. These estimates of concentrations of NO2 will be subsequently used to assess exposure in epidemiologic studies on the health effects of traffic-related air pollution. In May 2003, NO2 was measured for 14 consecutive days at 67 sites across the city using Ogawa passive diffusion samplers. Concentrations ranged from 4.9 to 21.2 ppb (median 11.8 ppb). Linear regression analysis was used to assess the association between logarithmic concentrations of NO2 and land-use variables derived using the ESRI Arc 8 geographic information system. In univariate analyses, NO2 was negatively associated with the area of open space and positively associated with traffic count on nearest highway, the length of highways within any radius from 100 to 750 m, the length of major roads within 750 m, and population density within 2000 m. Industrial land-use and the length of minor roads showed-no association with NO2. In multiple regression analyses, distance from the nearest highway, traffic count on the nearest highway, length of highways and major roads within 100 m, and population density showed significant associations with NO2; the best-fitting regression model had a R2 of 0.54. These analyses confirm the value of land-use regression modeling to assign exposures in large-scale epidemiologic studies.     

How integrated are environmental,quality and other standardized management systems? An empirical study

The aim of this article is to analyze the extent to which environmental management systems are really integrated with the quality and other standardized management systems implemented in organizations. To this end, an empirical study was carried out on 435 companies that were registered to multiple management system standards, including ISO 14001: 2004 and ISO 9001: 2000 at the minimum. Overall, 362 of those organizations indicated that they had integrated all or at least some of their standardized management systems. Results from the cluster analysis show three types of organizations in function of their level of integration of management system goals, documentation and human resources, as well as procedures. The results also illustrate which particular management system components are integrated and to what degree.     

Evaluation of the effectiveness of red mud-supported catalysts in combination with ozone and TiO<Subscript>2</Subscript> in the treatment of solution containing benzene,toluene, and xylene

Ozone and a Fe²⁺/TiO₂-based catalyst were examined in the degradation of a synthetic solution of benzene toluene and xylene (BTX) in an advanced oxidation process (AOP). The catalyst beads were made from the slurry waste of aluminum production process, by inserting the TiO₂ content and subsequent calcination. The reduction of the BTX concentration load was monitored by the reduction of chemical oxygen demand (COD) and BTX concentration. Different levels were used on factors: pH, time of treatment, initial concentration of BTX, and percentage of TiO₂. The process was conducted in a bubble column reactor with the insertion of catalyst beads. A response surface methodology technique (CCD) was used to build a model based on COD reduction results. The model was optimized using the normal-boundary intersection (NBI) algorithm to maximize COD reduction and minimize the variance attributed to the process. Optimization led to COD reductions of 80% in 2 h of experiment. Correlation analysis of coefficient models from experimental data R²_adj was 0.9966, showing a good fit of model data. In the optimized conditions, the possible increase of the biodegradability ratio of the BTX solution, through the biochemical oxygen demand (BOD) and COD, was also analyzed. Under pre-treatment conditions, the BOD/COD ratio was 0.13. After the treatment, it increased to 0.56.

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Primary colonization and breakdown of igneous rocks by endemic, succulent elephant trees (Pachycormus discolor) of the deserts in Baja California, Mexico

Trees growing in rocks without soil are uncommon. In two arid regions in Baja California, Mexico, field surveys found large numbers of rock-colonizing elephant trees (Pachycormus discolor (Benth.) Coville ex Standl. (Mexican name: copalquin) growing in igneous rocks (granite and basalt) as primary colonizers without the benefit of soil or with a very small amount of soil generated by their own growth. Many adult trees broke large granite boulders and were capable of wedging, growing in, and colonizing rocks and cliffs made of ancient lava flows. This is the first record of a tree species, apart from the previously recorded cacti, capable of primary colonization of rocks and rock rubble in hot deserts.     

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.