Dystrophin protein and rflp analyis for fetal diagnosis and carrier confirmation of duchenne muscular dystrophy

A pregnant woman with indeterminate Duchenne muscular dystrophy (DMD) carrier status, but with DMD diagnosed in her deceased brother (unavailable for study), presented for prenatal diagnosis, intending to continue the pregnancy only if proven unaffected with DMD with near absolute certainty. Creatine kinase (CK) assays to clarify carrier status were inconclusive. Male sex in the fetus was identified, but DNA restriction fragment length polymorphism (RFLP) analysis was not yet available to this centre to investigate the possible transmission of the DMD gene, and the pregnancy was terminated. Tissue histology and dystrophin protein analysis demonstrated the absence of DMD. In a situation with proven maternal carrier status, future fetal inheritance of the opposite maternal X chromosome would indicate the presence of DMD. However, maternal carrier status remained in doubt through a second pregnancy, even with RFLP studies, and was finally established when dystrophin analysis confirmed the presence of DMD in the second fetus. Histologic findings are presented, contrasting features in the two fetuses. The value of dystrophin analysis for establishing the diagnosis of fetal DMD, in this case proving maternal carrier status in a difficult situation, and for demonstrating DMD gene:RFLP haplotype relationships is illustrated.     

Optimisation of MSW collection routes for minimum fuel consumption using 3D GIS modelling

Collection of municipal solid waste (MSW) may account for more than 70% of the total waste management budget, most of which is for fuel costs. It is therefore crucial to optimise the routing network used for waste collection and transportation. This paper proposes the use of geographical information systems (GIS) 3D route modelling software for waste collection and transportation, which adds one more degree of freedom to the system and allows driving routes to be optimised for minimum fuel consumption. The model takes into account the effects of road inclination and vehicle weight. It is applied to two different cases: routing waste collection vehicles in the city of Praia, the capital of Cape Verde, and routing the transport of waste from different municipalities of Santiago Island to an incineration plant. For the Praia city region, the 3D model that minimised fuel consumption yielded cost savings of 8% as compared with an approach that simply calculated the shortest 3D route. Remarkably, this was true despite the fact that the GIS-recommended fuel reduction route was actually 1.8% longer than the shortest possible travel distance. For the Santiago Island case, the difference was even more significant: a 12% fuel reduction for a similar total travel distance. These figures indicate the importance of considering both the relief of the terrain and fuel consumption in selecting a suitable cost function to optimise vehicle routing.     

Microbial transformation of synthetic estrogen 17α-ethinylestradiol

Natural estrogens such as estrone, 17β-estradiol, estriol, and the particularly recalcitrant synthetic estrogen 17α-ethinylestradiol used as oral contraceptive, accumulate in the environment and may give rise to health problems. The processes participating in their removal from soil, wastewater, water-sediments, groundwater-aquifer material, and wastewater or sewage treatment plant effluents may involve the action of bacterial and microbial consortia, and in some cases fungi and algae. This review discusses the different efficiencies of bacterial degradation of 17α-ethinylestradiol under aerobic and anaerobic conditions, the role of sulfate-, nitrate-, and iron-reducing conditions in anaerobic degradation, and the role of sorption. The participation of autotrophic ammonia oxidizing bacteria and heterotrophic bacteria in cometabolic degradation of estrogens, the estrogen-degrading action of ligninolytic fungi and their extracellular enzymes (lignin peroxidase, manganese-dependent peroxidase, versatile peroxidase, laccase), and of algae are discussed in detail.     

Operation costs and pollutant emissions reduction by definition of new collection scheduling and optimization of MSW collection routes using GIS. The case study of Barreiro,Portugal

This work proposes an innovative methodology for the reduction of the operation costs and pollutant emissions involved in the waste collection and transportation. Its innovative feature lies in combining vehicle route optimization with that of waste collection scheduling. The latter uses historical data of the filling rate of each container individually to establish the daily circuits of collection points to be visited, which is more realistic than the usual assumption of a single average fill-up rate common to all the system containers. Moreover, this allows for the ahead planning of the collection scheduling, which permits a better system management. The optimization process of the routes to be travelled makes recourse to Geographical Information Systems (GISs) and uses interchangeably two optimization criteria: total spent time and travelled distance. Furthermore, rather than using average values, the relevant parameters influencing fuel consumption and pollutant emissions, such as vehicle speed in different roads and loading weight, are taken into consideration. The established methodology is applied to the glass-waste collection and transportation system of Amarsul S.A., in Barreiro. Moreover, to isolate the influence of the dynamic load on fuel consumption and pollutant emissions a sensitivity analysis of the vehicle loading process is performed. For that, two hypothetical scenarios are tested: one with the collected volume increasing exponentially along the collection path; the other assuming that the collected volume decreases exponentially along the same path. The results evidence unquestionable beneficial impacts of the optimization on both the operation costs (labor and vehicles maintenance and fuel consumption) and pollutant emissions, regardless the optimization criterion used. Nonetheless, such impact is particularly relevant when optimizing for time yielding substantial improvements to the existing system: potential reductions of 62% for the total spent time, 43% for the fuel consumption and 40% for the emitted pollutants. This results in total cost savings of 57%, labor being the greatest contributor, representing over €11,000 per year for the two vehicles collecting glass-waste. Moreover, it is shown herein that the dynamic loading process of the collection vehicle impacts on both the fuel consumption and on pollutant emissions.     

Monitoring, fault detection and operation prediction of MSW incinerators using multivariate statistical methods

This work proposes the application of two multivariate statistical methods, principal component analysis (PCA) and partial least square (PLS), to a continuous process of a municipal solid waste (MSW) moving grate-type incinerator for process control - monitoring, fault detection and diagnosis - through the extraction of information from historical data. PCA model is built for process monitoring capable of detecting abnormal situations and the original 16-variable process dimension is reduced to eight, the first 4 being able to capture together 86% of the total process variation. PLS model is constructed to predict the generated superheated steam flow rate allowing for control of its set points. The model retained six of the original 13 variables, explaining together 90% of the input variation and almost 98% of the output variation. The proposed methodology is demonstrated by applying those multivariate statistical methods to process data continuously measured in an actual incinerator. Both models exhibited very good performance in fault detection and isolation. In predicting the generated superheated steam flow rate for its set point control the PLS model performed very well with low prediction errors (RMSE of 3.1 and 4.1).     

Biodegradation of PCBs by ligninolytic fungi and characterization of the degradation products

The aim of the present study was to compare the degrading capabilities of eight ligninolytic fungal representatives towards a technical mixture of polychlorinated biphenyls (Delor 103). Axenic cultures of the fungi, either in complex or N-limited liquid media, were spiked with the technical mixture of Delor 103. All of the fungal strains were able to degrade the pollutant significantly after 6weeks of incubation in both media. Outstanding results were achieved by the treatment with Pleurotus ostreatus, which removed 98.4% and 99.6% of the PCB mixture in complex and mineral media, respectively. This fungus was the only one capable of breaking down penta- and hexachlorinated biphenyls in the complex medium. Ecotoxicological assays performed with the luminescent bacterium Vibrio fischeri demonstrated that all of the fungal strains employed in this study were able to remove the toxicity only temporarily (e.g., after 28d of incubation), while P. ostreatus was capable of suppressing the toxicity associated to PCBs along the whole incubation period in both media. We also performed an extensive set of qualitative GC/MS analyses and chlorinated derivatives of hydroxy- and methoxy-biphenyls were detected along with monoaromatic structures, i.e. chlorobenzoic acids, chlorobenzaldehydes and chlorobenzyl alcohols. This results indicate that both intracellular (cytochrome P-450 monooxigenase, aryl-alcohol dehydrogenase and aryl-aldehyde dehydrogenase) and extracellular (ligninolytic enzymes) enzymatic systems could be involved in the biotransformation of PCB by ligninolytic fungi. The data from this work also document that the fungi are able to degrade further the main metabolites on the PCB pathway (i.e. chlorobenzoic acids) simultaneously with PCBs.     

Multi-criteria GIS-based siting of an incineration plant for municipal solid waste

Siting a municipal solid waste (MSW) incineration plant requires a comprehensive evaluation to identify the best available location(s) that can simultaneously meet the requirements of regulations and minimise economic, environmental, health, and social costs. A spatial multi-criteria evaluation methodology is presented to assess land suitability for a plant siting and applied to Santiago Island of Cape Verde. It combines the analytical hierarchy process (AHP) to estimate the selected evaluation criteria weights with Geographic Information Systems (GIS) for spatial data analysis that avoids the subjectivity of the judgements of decision makers in establishing the influences between some criteria or clusters of criteria. An innovative feature of the method lies in incorporating the environmental impact assessment of the plant operation as a criterion in the decision-making process itself rather than as an a posteriori assessment. Moreover, a two-scale approach is considered. At a global scale an initial screening identifies inter-municipal zones satisfying the decisive requirements (socio-economic, technical and environmental issues, with weights respectively, of 48%, 41% and 11%). A detailed suitability ranking inside the previously identified zones is then performed at a local scale in two phases and includes environmental assessment of the plant operation. Those zones are ranked by combining the non-environmental feasibility of Phase 1 (with a weight of 75%) with the environmental assessment of the plant operation impact of Phase 2 (with a weight of 25%). The reliability and robustness of the presented methodology as a decision supporting tool is assessed through a sensitivity analysis. The results proved the system effectiveness in the ranking process.     

Prenatal diagnosis of tuberous sclerosis: The use of fetal echocardiography

Fetal echocardiography was used to identify a cardiac rhabdomyoma in the second trimester. The combination of this finding with a maternal history of Tuberous Sclerosis allowed the patient and her family to make a more educated decision regarding termination of the pregnancy. Post mortem examination of the fetus confirmed the prenatal findings. This case report demonstrates the importance of ultrasound evaluation of the fetus at risk of recurrence of a genetic syndrome in which one or more anatomical defects might be seen.