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.     

Comparison of environmental flow assessment methods with a case study on a runoff river–type hydropower plant using hydrological methods

This paper focuses on the environmental flow assessment (EFA) methods that maintain the river ecosystem and its integrity for hydropower plants (HPP) with their implementations on a run-off river type HPP. EFA is a crucial phenomenon in terms of electricity production and sustaining river integrity simultaneously. The novelty of this study is that it consists both a comparison of widely used preferred EFA methods and a detailed investigation of the river with pre and post-dam flow regimes. The research shows that by expanding the content and scope of the methods, their relative reliabilities increase. However, this situation requires much more expert, money, and time. Apart from most of the relevant literature, pre and post-dam situations are investigated with a flow duration curve (FDC). It is concluded that the dramatic difference between the flow characteristics of pre and post-dam situations affects long-term aquatic life. Furthermore, a case study is conducted using the selected hydrological flow assessment methods, Tennant and Tessman methods, and comparisons are made. The calculated flows are compared with monthly average flow values before dam construction, projected environmental flow data, and the current situation. Accordingly, Tennant’s “good classification” is proposed to determine the environmental flow (EF) for the considered case study.     

Mining and corruption

This study examines the links between mineral dependency and corruption. Specifically, it develops a cross-section econometric model that estimates the effects of per capita income, fuel exports, non-fuel exports, and average per unit value of mineral exports on corruption.     

Study of high-frequency electromagnetic field effect on some somatic and neuro-behavioral characteristics in healthy and neurodefective mice

The effect of long-term exposure to high frequency electromagnetic field (HF EMF) on some somatic and neural characteristics was studied in neurodefective Lurcher mutant (+/Lc) and normal wild type mice (+/+). Both newborn and young adult (3 months) animals derived from two strains (C3H, B6CBA) were exposed to HF EMF (870 MHz) from 1st to 21st day or from 91st to 120th day respectively. In animals of both groups and controls we observed the development of body weight. Moreover, in the HF EMF exposed adult B6CBA animals we studied spatial learning ability, motor functions and the CNS excitability. To investigate specific energy absorption rate (SAR) in experimental animals we have done the basic 3D calculations of the electromagnetic energy distribution in the simplified model of the mouse. The HF EMF exposed animals exhibited mild differences of body weight between them and unexposed controls. The long-term exposure to HF EMF did not significantly influence the ability to learn in the Morris water maze. However, significant lower swimming speed was found in the irradiated +/Lc as well as lower motor activity of +/+ in the open field when compared to controls. No significant differences were found between HF EMF irradiated animals and controls in examination of the CNS excitability and motor functions.     

The response of Atlantic cod, <Emphasis Type="Italic">Gadus morhua</Emphasis>, to progressive hypoxia: fish swimming speed and physiological stress

Atlantic cod, Gadus morhua, were exposed to a progressive stepwise decline in water oxygen pressure Fish swimming speed and indicators of primary and secondary stress (e.g. blood cortisol and lactate) were measured to assess whether a severe shift in physiological homeostasis (i.e. stress) preceded any change in behaviour or vice versa. Swimming speed increased by 18% when was reduced rapidly from 19.9 kPa to 13.2 kPa and was interpreted as an initial avoidance response. However, swimming speed was reduced by 21% at a moderate level of steady (8.4 kPa) and continued to drop by 41% under progressively deep hypoxia (4.3 kPa). Elevations in plasma cortisol and blood lactate indicated major physiological stress but only at 4.3 kPa, which corresponds to the critical oxygen tension of this species. We propose that the drop in speed during hypoxia aids to offset major stress and is adaptive for the survival of cod in extensive areas of low oxygen.     

A cost-effective screening method for pesticide residue analysis in fruits, vegetables, and cereal grains

This paper reports the results of studies performed to investigate the potential of applying thin layer chromatography (TLC) detection in combination with selected extraction and cleanup methods, for providing an alternative cost-effective analytical procedure for screening and confirmation of pesticide residues in plant commodities. The extraction was carried out with ethyl acetate and an on-line extraction method applying an acetone-dichloromethane mixture. The extracts were cleaned up with SX-3 gel, an adsorbent mixture of active carbon, magnesia, and diatomaceous earth, and on silica micro cartridges. The Rf values of 118 pesticides were tested in eleven elution systems with UV, and eight biotest methods and chemical detection reagents. Cabbage, green peas, orange, and tomatoes were selected as representative sample matrices for fruits and vegetables, while maize, rice, and wheat represented cereal grains. As an internal quality control measure, marker compounds were applied on each plate to verify the proper elution and detection conditions. The Rf values varied in the different elution systems. The best separation (widest Rf range) was achieved with silica gel (SG)--ethyl acetate (0.05-0.7), SG--benzene, (0.02-0.7) and reverse phase RP-18 F-254S layer with acetone: methanol: water/30:30:30 (v/v) (0.1-0.8). The relative standard deviation of Rf values (CV(Rf)) within laboratory reproducibility was generally less than 20%, except below 0.2 Rf, where the CVRf rapidly increased with decreasing Rf values. The fungi spore inhibition, chloroplast inhibition, and enzyme inhibition were found most suitable for detection of pesticides primarily for confirming their identity or screening for known substances. Their use for determination of pesticide residues in samples of unknown origin is not recommended.     

Interactive effect of Brevibacillus brevis and Glomus mosseae, both isolated from Cd contaminated soil, on plant growth, physiological mycorrhizal fungal characteristics and soil enzymatic activities in Cd polluted soil

The interaction between two autochthonous microorganisms (Brevibacillus brevis and Glomus mosseae) isolated from Cd amended soil increased plant growth, arbuscular mycorrhizal (AM) colonization and physiological characteristics of the AM infection (measured as SDH or ALP activities). The enhanced plant Cd tolerance after coinoculation with native microorganisms seemed to be a consequence of increased P and K acquisition and, simultaneously, of decreased concentration of Cd, Cr, Mn, Cu, Mo, Fe and Ni in plant tissue. Autochthonous microbial strains were more efficient for nutrient uptake, to immobilize metals and decrease their translocation to the shoot than reference G. mosseae (with or without bacteria). Indole acetic acid produced by B. brevis may be related to its ability for improving root growth, nodule production and AM fungal intra and extraradical development. Dehydrogenase, phosphatase and beta-glucosidase activities, indicative of microbial metabolism and soil fertility, were maximized by the coinoculation of autochthonous microorganisms in cadmium polluted conditions. As a consequence, the use of native microorganisms may result very efficient in bioremediation.     

Determinants of consumer behavior related to organic foods

There have been many studies of what influences consumers in their decisions to purchase or consume organic foods, mainly concerned with fresh organic foods. These show a discrepancy between attitudes and behavior with people being positive about organic foods but often not purchasing them. This discrepancy seems to be explained by the fact that consumers do not consider "organically produced" to be an important purchase criterion, that organic foods are not perceived to surpass conventional foods regarding taste and shelf life (two qualities rated to be of great importance), and because of the perceived premium prices of organic foods. In two Swedish studies, health benefits were demonstrated to be more strongly related to attitudes and behavior toward organic foods than were perceived environmental benefits. A new European Union (EU) project will investigate the influences on both fresh and processed organic foods and investigate the role of moral, ethical, and affective influences on choice across eight EU countries.     

Ecotoxicological assessment for receiving waters with the premetamorphic tadpoles acute assay

The toxicity of receiving waters was evaluated by means of the young tadpoles assays. The sentinel organism was Bufo arenarum, an indigenous anuran species. The assayed water samples were taken from a highly polluted urban watercourse (Reconquista River, Buenos Aires, Argentina), characterized by high concentration of nitrites, phosphates and heavy metals. The toxicity of water samples was assessed performing the pass-fail test and by means of the NOEC and LC(50); TUs (toxic units) were also calculated. The effect of the addition of a positive control (Cd) on the toxicity of the river water samples was also examined. Water samples of three sites, characterised by their different degree of pollution, were assayed. The lethal response had a clear cut correspondence with the water quality of the sample evaluated by means of physicochemical parameters. In most cases, the dilution of the samples resulted in a significant reduction of their toxicity to TU values compatible to those stated by the USEPA for industrial effluents. It was concluded that (a) the used Bufo arenarum bioassay was an adequate method for assessing the toxicity of natural polluted water samples and (b) the three considered endpoints showed no important differences after 48 or 96 h of exposure, therefore we concluded that it may not be necessary to extend the assay for a longer period than 48 h.     

Chemical characterization of extractable water soluble matter associated with PM10 from Mexico City during 2000

We report the chemical composition of PM10-associated water-soluble species in Mexico City during the second semester of 2000. PM10 samples were collected at four ambient air quality monitoring sites in Mexico City. We determined soluble ions (chloride, nitrate, sulfate, ammonium, sodium, potassium), ionizable transition metals (Zn, Fe, Ti, Pb, Mn, V, Ni, Cr, Cu) and soluble protein. The higher PM(10) levels were observed in Xalostoc (45-174 microg m(-3)) and the lowest in Pedregal (19-54 microg m(-3)). The highest SO2 average concentrations were observed in Tlalnepantla, NO2 in Merced and O3 and NO(x) in Pedregal. The concentration range of soluble sulfate was 6.7-7.9 and 19-25.5 microg m(-3) for ammonium, and 14.8-29.19 for soluble V and 3.2-7.7 ng m(-3) for Ni, suggesting a higher contribution of combustion sources. PM-associated soluble protein levels varied between 0.038 and 0.169 mg m(-3), representing a readily inhalable constituent that could contribute to adverse outcomes. The higher levels for most parameters studied were observed during the cold dry season, particularly in December. A richer content of soluble metals was observed when they were expressed by mass/mass units rather than by air volume units. Significant correlations between Ni-V, Ni-SO4(-2), V-SO4(-2), V-SO2, Ni-SO2 suggest the same type of emission source. The variable soluble metal and ion concentrations were strongly influenced by the seasonal meteoclimatic conditions and the differential contribution of emission sources. Our data support the idea that PM10 mass concentration by itself does not provide a clear understanding of a local PM air pollution problem.