Carrier detection of duchenne muscular dystrophy through analysis of dna from deciduous teeth of a dead affected child

The sister of a child affected by Duchenne muscular dystrophy (DMD) was referred for genetic counselling to assess the risk of her being a carrier. Her brother had died 15 years previously at the age of 8. There were no other affected males in the family. There were no methods for DNA investigation at the time of the child's death and the family had never been studied for linkage with polymorphic probes on the chromosomal region Xp21. The only tissue from which an assessment of the risk could be made by DNA linkage analysis was two of the child's deciduous teeth that the parents had kept. DNA was extracted using a protocol described for the recovery of ancient DNA from museum specimens and archaeological finds. Multiplex amplification did not reveal deletions in 19 exons spanning the hot-spot regions for deletions within the dystrophin gene in Xp21. Linkage analysis using three highly polymorphic microsatellites demonstrated that the sister had not received the X chromosome borne by her brother. These results show that DNA extracted from teeth is a reliable source for molecular diagnosis.     

Distribution and origin of polycyclic aromatic hydrocarbons in surface sediments from an urban river basin at the Metropolitan Region of Curitiba, Brazil

The concentrations of 16 polycyclic aromatic hydrocarbons (PAHs) were determined in surface sediment samples from nine sites located at the Iguac?u River Basin in the Metropolitan Region of Curitiba, Brazil to evaluate their distribution and sources. The total concentration of the PAHs was greater for sediments from highly urbanized areas, while the sediments from the Ira′? Environmental Protection Area (Ira′? EPA) showed significantly low concentrations. The sediments from the Iguac?u and Barigui rivers were classified as highly contaminated, while those from the Cercado and Curralinho rivers were classified as moderately contaminated. The predominance of PAHs containing two to four aromatic rings in most of the samples suggested the direct input of raw sewage into the water resources evaluated. Benzo[g,h,i]perylene, dibenzo[a,h]anthracene and indeno[1,2,3-cd]pyrene were predominant in sediments from the areas under the greatest urban and industrial development. The correlation between thermodynamic stability and the kinetics of evolution presented by the isomeric pairs indicated that combustion is the predominant source of PAHs in the sediments because the combustion of fossil fuels affected most of the points evaluated, followed by combustion of biomass and eventually combustion of oil product inputs. In general, the results showed that areas under strong urban influence, as well as the Ira′? EPA, receive contributions of PAHs from similar sources.     

Heavy metal bioavailability and chelate mobilization efficiency in an assisted phytoextraction process

The heavy metal bioavailable fraction of a soil is a core parameter to verify the potential risks of contaminant exposure to organisms or plants. The purpose of the present work is to identify the bioavailable metal fraction in soils treated with chelates. This fraction was evaluated directly by analyzing metal concentrations in soil solution and indirectly using sequential extraction procedures. The metal bioavailable fraction was compared with metal accumulated in plant leaves, grown in both untreated and chelate-treated reactors. In order to verify the effect of the readily and slowly biodegradable chelates [S,S]-ethylenediaminedisuccinic acid (EDDS), methylglycine diacetic acid (MGDA), and ethylenediaminetetraacetic acid (EDTA) on metal speciation in soils, a simulation of chelate treatment was made and metal concentrations in different soil compartments before and after the simulation were compared. Lead concentration in the soil solution was positively correlated with metal concentration in the test plants. The soluble fraction showed the best correlation with metal concentration in soil solution. The simulation of the chelate treatment demonstrated that EDTA and EDDS were able to extract part of the organic- and sulfide-bound fraction, which are less available to plants.     

A homogeneous and low-cost biosorbent for Cd,Pb and Cu removal from aqueous effluents

Heavy metal pollution of aqueous effluents is a matter of widespread concern. The use of low-cost materials for the adsorption of heavy metals seems to be a suitable choice for waste water treatment. Polyporus tenuiculus, easily cultivated on lignocellulosic waste, was assayed for Cu, Pb and Cd removal from aqueous solutions. Pb was removed more efficiently. Kinetics studies suggested a pseudo-second-order reaction and equilibrium was reached in ～ 30 min in all cases. The metal-sorption data were analysed according to several two-parameter isotherms. Data better fitted the Langmuir model for the three metals. A great dependence of metal adsorption with pH was observed. Characterisation of both the biomass and the complex metal-biomass was performed by FT-IR and SEM-EDX. Results suggest an ion exchange mechanism.     

Evaluation of the impact on entomocoenosis of active agents allowed in organic olive farming against Bactrocera oleae (Gmelin, 1790)

Several attempts for evaluating environmental impact of active agents allowed in organic olive farming against Bactrocera oleae have been made, but very few studies were performed contemporaneously on more than one of them. Insects were chosen as indicators because they are known to react very quickly to environmental perturbations, mainly at the community level. In fact, the coenosis is the functional unit interacting with biotic and abiotic environmental parameters. Seven taxa, known for their sensitivity to habitat alterations, were sampled and grouped in functional groups: predators and parasitoids, phytophagouses and pollinators. The coenotic balance between these two functional groups was analyzed. The study was carried out in an organic olive orchard in the municipality of Terranova da Sibari, Cosenza, Southern Italy. The tested active agents (Azadirachtin, Rotenone, Copper Oxychloride) were sprayed twice (end of September and middle October). During the treatments the population dynamics of all the taxa were knocked-down. No one tested compound seems to be harmless to the entomocoenosis, particularly on phytophagouses and pollinators. In truly organic farming it is necessary to provide natural refuge areas to beneficial insects (i.e. pest antagonists) in which no active agents are sprayed and alternative preys could be found.     

Veterinary drugs in groundwater in a dairy region of central Argentina and risk assessment for human health

Veterinary drugs used in dairy production are potential contaminants of surface or groundwater sources, being able to affect human and environmental health. It is known that chronic exposure to antibiotics in low concentrations present in water can generate microbial resistance. This study aimed to evaluate the presence of veterinary drugs in 53 groundwater samples used for animal and human consumption, collected in dairy milking parlors, in an important milk-producing area of central Argentina, and to assess the risk to human health when they are used as drinking water. In 75% of the total samples analyzed, at least one veterinary drug was detected. The most frequently found drugs in water samples were the antibiotics tetracycline in 58.5% and oxytetracycline in 56.6%, and an anti-inflammatory, flunixin in 39.6%. In the water samples, the tetracycline and oxytetracycline concentrations were between 0.1 and 5.3 μg/L and flunixin concentrations were between 0.01 and 2.1 μg/L. The frequency of appearance and the concentration levels of the substances found in the water samples were evaluated according to the productivity, size, and production system (confined or pasture) of the dairy farms. Higher concentrations and proportions of water samples containing antibiotics were observed when the number of animals per dairy farm was >182 and when the productivity was high (>25 liters per animal per day). In the case of flunixin, the percentage of detection was similar in all evaluated categories. The risk assessment for children and adults, considering the intake of drinking water containing residues of these drugs, did not indicate a significant health risk. It would be advisable to evaluate other sources of drinking water, both surface and underground, in other regions of the country, to provide data to assess the impact of these substances and the other contaminants on environmental and human health.     

Strontium migration in a crystalline medium: effects of the presence of bentonite colloids

The effects of bentonite colloids on strontium migration in fractured crystalline medium were investigated. We analyzed first the transport behaviour of bentonite colloids alone at different flow rates; then we compared the transport behaviour of strontium as solute and of strontium previously adsorbed onto stable bentonite colloids at a water velocity of approximately 7.1·10(-6)m/s-224m/yr. Experiments with bentonite colloids alone showed that - at the lowest water flow rate used in our experiments (7.1·10(-6)m/s) - approximately 70% of the initially injected colloids were retained in the fracture. Nevertheless, the mobile colloidal fraction, moved through the fracture without retardation, at any flow rate. Bentonite colloids deposited over the fracture surface were identified during post-mortem analyses. The breakthrough curve of strontium as a solute, presented a retardation factor, R(f)~6, in agreement with its sorption onto the granite fracture surface. The breakthrough curve of strontium in the presence of bentonite colloids was much more complex, suggesting additional contributions of colloids to strontium transport. A very small fraction of strontium adsorbed on mobile colloids moved un-retarded (R(f)=1) and this fraction was much lower than the expected, considering the quantity of strontium initially adsorbed onto colloids (90%). This behaviour suggests the hypothesis of strontium sorption reversibility from colloids. On the other hand, bentonite colloids retained within the granite fracture played a major role, contributing to a slower strontium transport in comparison with strontium as a solute. This was shown by a clear peak in the breakthrough curve corresponding to a retardation factor of approximately 20.     

Widespread microbiological groundwater contamination in the South-eastern Salento (Puglia-Italy)

In the Salento peninsula (Puglia Region, South-East Italy), underground waters are a fundamental resource for the population because they constitute the principal reservoir for drinking water and irrigation. They are, however, affected by overexploitation. The risk factors in the Salento arise mainly from anthropic activities, especially tourism and agriculture (leaking wells, sewage and inadequate waste disposal procedures). The Southern Salento is recognized to be at high risk of pathologies characterised by oral-faecal transmission. From 2001 to 2009 the incidence of typhoid fever in the Salento was 12.11/100,000 inhabitants as against 2.91 in Italy. Enteritis caused by rotaviruses is an important cause of hospitalization of paediatric-aged children in the Salento, with high social costs. An effective monitoring system for the conservation and management of water bodies and the protection of public health is therefore fundamental. The present study sought to determine the microbiological and chemical-physical quality of groundwater in the Salento and to analyse the factors associated with contamination. The results indicated widespread pollution from salt and microbial contamination. Contamination from faecal microorganisms posed a significant risk of human infection in 100% of samples. Furthermore, the water was unsuitable even for irrigation in a high percentage of cases (31.8%), which is of considerable significance given that agriculture is one of the most important economic activities in the area under study. The high salt concentration was probably due to excessive extraction of water for intensive irrigation, especially in summer. Under these circumstances, some of mitigation activity is necessary. Furthermore, it would be advisable to decrease the pollution load from anthropic activities in the territory and to reduce water consumption in order to conserve groundwater resources especially.     

An integrated approach towards transforming an industrial park into an eco-industrial park: the case of Salaise-Sablons

This paper describes an integrated approach to transform an industrial park into an eco-industrial park by combining three interconnected goals, namely, the consolidation of industrial symbiosis, the promotion of sustainable accessibility and the development of multi-functionalities. The result is an interdependent approach where industrial and territorial ecosystems are jointly planned, seeking a more sustainable level of development that considers industrial activity, the transportation of people and goods and the spatial articulation with the neighbouring environment and urban areas. The critical points and challenges for improving the territorial integration of the French industrial park of Salaise-Sablons are discussed, providing lessons for the future. Regardless of the specificities of the case study, this approach has the potential to be adopted in similar industrial parks.