A pharmacogenetic-driven approach for controlled ovarian hyperstimulation by FSH treatment.

AIM: The aim of this study was to develop a pharmacogenetic- (PGx) driven approach for a controlled ovarian hyperstimulation (COH) treatment protocol used for in vitro fertilization procedures. The enrolled patients were genotyped for a single nucleotide polymorphism (SNP) N680S, within the FSHR. METHODS: Seventy-eight women, who had previously received at least two COH cycles without positive fertilization with FSH and AMH values <10 mUI/mL and >0.3 ng/mL respectively were enrolled. They were genotyped for N680S and then categorized in high (HR), intermediate (IR), and poor responders (PR). Each subgroup received a tailored FSH treatment of 100, 225, and 400 UI/mL, respectively. The response was evaluated considering differences with previous COH cycle in terms of number of follicles (FR), oocytes (OR), and embryos produced (EMB). RESULTS: With regards to the endpoint considered comparing the non-PGx with the PGx approach, for what regards the FR a statistically significant increase of their numbers was observed with the PGx-tailored approach (HR P<0.0001; IR P=0.00892; PR P=0.0032). Similar statistical significant results were also achieved for OR but only for HR (P<0.0001) and IR (P=0.00169). Last but not least for the EMB (HR P<0.001; IR P=0.00670 and PR P<0.0001) all the different genotype considered achieved a statistical significance. CONCLUSION: This study, although with a limited number of enrolled patients, showed that a FSH treatment with a PGx-driven approach might have the potential to improve COH clinical outcome.

Prenatal BACs-on-Beads™ : a new technology for rapid detection of aneuploidies and microdeletions in prenatal diagnosis.

OBJECTIVE: Molecular cytogenetic techniques on uncultured prenatal samples are the sole tests applied in some countries in cases with advanced maternal age (AMA) or increased risk after prenatal screening. Moreover, there is a trend to perform invasive prenatal diagnosis (PD) during the first trimester before ultrasound manifestations, so new rapid and reliable assays are necessary to investigate microdeletions not detectable with the conventional karyotype. We report the validation study of the prenatal bacterial artificial chromosomes-on-Beads™ (BoBs™ ; CE-IVD), a bead-based multiplex assay detecting chromosomes 13, 18, 21, X/Y aneuploidies and nine microdeletion regions having an overall detection rate of 1/1700. METHOD: We retrospectively studied 408 selected samples and prospectively tested 212 consecutive samples ascertained for conventional karyotyping. RESULTS: We did not find false-positive results. Triploidies were not detected. Maternal cell contamination of male samples up to 90% was unmasked inspecting gonosome profiles. Mosaic conditions at 20 to 30% were revealed. Failures were due to low amount of DNA. CONCLUSION: Prenatal BoBs™ is a robust technology for the investigation of fetuses with normal karyotype with or without sonographic abnormalities. Running in parallel with the karyotype analysis, it can be proposed instead of rapid FISH or QF-PCR providing rapid results on common aneuploidies and additional information regarding the microdeletion syndromes.

Are extreme rainfall intensities more frequent? Analysis of trends in rainfall patterns relevant to urban drainage systems.

The fact that climate change is affecting the intensity and frequency of rainfall is well accepted in the scientific community. This is backed by a multitude of reports on the basis of daily rainfall series analysis; however, little research is available for short duration intensities. Due to its significant influence on the behaviour of urban drainage, it is critical to investigate the changes in short duration rainfall intensities. In this study different intensities relevant for the urban drainage and the total rainfall per rain event are analysed. The trend is investigated using the Mann-Kendall test. The rainfall series analysed are from the alpine region Tyrol. The results present differences depending on the duration of the intensity and the series considered, however an increase in the number of extreme events is detectable for short durations for the most series.

Influence of climate change on the water resources in an alpine region.

It is widely accepted that the global warming will impact on water resources. This study investigates the possible influence of climate change on the water resources in an alpine region. A description of the actual situation with emphasis on the water resources from the one side and on the water consuming factors, here called stressors, is given. The probable effects of climate change in the region and their influence on its water resources are then described. The main outcome is that in the analysed region the climate change will rather have positive influence on the water balance by inducing higher precipitations during the rivers' natural low flow period (winter). This outcome contradicts many common predictions, however, this due to the specifics induced by the alpine nature of the catchment.

Environmental impacts of urban snow management--the alpine case study of Innsbruck.

In regions with colder climate, snow at roads can accumulate significant amounts of pollutant chemicals. In northern countries various efforts have been made to face this problem, but for the alpine region little is known about the pollution of urban snow. The present case study was carried out in the city of Innsbruck (Austria). It aimed at measuring pollution of roadside snow and estimating the impact of snow management practises on environmental quality. Concentrations of copper, zinc, lead, cadmium, suspended solids and chloride were determined during a series of sampling events. Various locations with low and high traffic densities and in different distances from a highway have been investigated. The concentrations of copper were generally higher at sites with high traffic density compared to locations with low traffic impact. In contrast to this, the concentrations of zinc and lead remained almost unvaried irrespective of traffic density at the different sampling sites. For cadmium, the picture was more diverse, showing moderately elevated concentrations of this metal also at the urban reference site not polluted by traffic. This indicates that there may be also other important sources for cadmium besides traffic. Suspended solids accumulated in the roadside snow, the highest concentrations were found at the sites with high traffic density. The chloride concentrations were considerable in the snow, especially at the highway. Based on the results of the present measurement campaign, the environmental impact of snow disposal in rivers was also estimated. A negative impact on rivers from snow disposal seems likely to occur, although the discharged loads could only be calculated with substantial uncertainty, considering the high variability of the measured pollutant concentrations. For a more accurate evaluation of this management practise on rivers, further investigations would be necessary.

Combined sewer system versus separate system--a comparison of ecological and economical performance indicators.

This paper aims at comparing the cost-effectiveness of the two main types of urban drainage systems, that is, the combined sewer system and the separate sewer system, based on the analysis of simulations. The problem of which of the two systems is better was heavily discussed over the years and the answer given to the question was usually: 'it depends'. In this work, specific impacts are investigated in terms of a cause-effect analysis. The results are subsequently summarized and can help in the choice of the system to be implemented. Despite earlier reasoning, studies on river water quality strongly indicate that the separate system is not always the preferable solution because the polluted runoff from the street, containing e.g. different heavy metals, is discharged directly into the river. This analysis aims to compare the two different sewer systems on the basis of literature data and simulation of specific cases. The results are evaluated, as suggested in the EU-Water Framework Directive, on the basis of different assessment criteria: river water quality and morphology impacts, emissions and costs.

On the issue of trend and noise in the estimation of extreme rainfall properties.

Up until today extreme rainfall properties are frequently applied in sewer design guidelines. Uncertainty in the estimation of such properties will hence directly influence the dimensions of sewers, structures and pumps. In this paper the issue of potential trend and noise in the estimation is investigated for 6 rain series ranging from 19 to 55 years in duration. Different to recent research that predicts a climate induced-increase in heavy precipitation no clear indication for such trend was found in the investigated historical rain series. Another important aspect is the length of the rain series that is required for the estimation of extreme rainfall properties and the associated uncertainty. The analysis indicates that at least a period of 10 years should be used for the estimation. But even so the possible deviation expressed in terms of the 90 percentile is in the order of 5 to 10% of the 'true value', defined as the value derived when the whole given series is used for the estimation.

On the effect of spatial variances in historical rainfall time series to CSO performance evaluation.

Historical, high-resolution rain series are the backbone of modern combined sewer overflow (CSO) structure design. These rain series are the input to the computational estimation of the performance of the measures with respect to CSO pollution abatement. However, those historical precipitation measurements are available at only a few locations. Frequently rain series have to be used from gauging stations at a significant distance. In order to judge and to compensate for this influence an estimate between rain characteristics and combined sewer outflow (CSO) performance indicators would be useful. In this paper such correlations have been sought for a collection of 37 rain series covering large areas of Europe. It was found that the mean annual rain volume can explain most of the variances for the performance indicators Number of overflows and CSO volume. For explaining the spatial differences in the efficiency of the CSO structure another rain characteristic, i.e. the maximum event with a return period of one year, is to be used.

Model based hydropower gate operation for mitigation of CSO impacts by means of river base flow increase.

In river stretches being subjected to flow regulation, usually for the purpose of energy production (e.g. Hydropower) or flood protection (river barrage), a special measure can be taken against the effect of combined sewer overflows (CSOs). The basic idea is the temporal increase of the river base flow (during storm weather) as an in-stream measure for mitigation of CSO spilling. The focus is the mitigation of the negative effect of acute pollution of substances. The measure developed can be seen as an application of the classic real time control (RTC) concept onto the river system. Upstream gate operation is to be based on real time monitoring and forecasting of precipitation. The main objective is the development of a model based predictive control system for the gate operation, by modelling of the overall wastewater system (incl. the receiving water). The main emphasis is put on the operational strategy and the appropriate short-term forecast of spilling events. The potential of the measure is tested for the application of the operational strategy and its ecological and economic feasibility. The implementation of such an in-stream measure into the hydropower's operational scheme is unique. Advantages are (a) the additional in-stream dilution of acute pollutants entering the receiving water and (b) the resulting minimization of the required CSO storage volume.

Challenges in the implementation of the Water Framework Directive: case study of the alpine river Drau, Austria.

The paper explores a methodology for the definition of ecological water quality indicators on the basis of a case study on an alpine river in Austria. Further, it discusses a particular interpretation of the combined approach introduced in the European Union Water Framework Directive that allows violating emission regulations if cost-effective.