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Prenatal diagnosis of chondroectodermal dysplasia with fetoscopy

Chondroectodermal dysplasia (Ellis-van Creveld syndrome) has previously been diagnosed prenatally only once, using fetoscopy. We report on two consecutive pregnancies in a woman at risk of having a child with the syndrome during which fetoscopic visualization was performed. Ellis-van Creveld syndrome was diagnosed prenatally in one instance, while it could be excluded in the other one. Non-invasive prenatal diagnosis of the syndrome is discussed.     

The effect of oxygen tension on colony formation and cell proliferation of amniotic fluid cellsin vitro

The effects of reduced oxygen concentrations in the gas phase over the culture medium on colony formation and cell proliferation were investigated in high and low cell density primary and secondary cultures of amniotic fluid cells. Using two standard culture methods (25 cm² plastic flasks and Leighton type tubes) a significantly reduced culture time was observed at high cell density for mass cultures by incubation within a low oxygen tension gas phase (2.5 per cent to 7.5 per cent O₂) instead of conventional air (18 per cent O₂). At low cell density colony formation was significantly enhanced in cultures grown at reduced oxygen tension. Using gas permeable membranes as support, lowering the oxygen tension from 7.5 per cent to 2.5 per cent yielded an increase in plating efficiency of cells from approximately 5 per cent to 25 per cent, whereas plating efficiency was less than 2 per cent for cells grown at ambient 18 per cent O₂. It is suggested that low oxygen tension in the gas phase is an effective means of enhancing clonal growth in amniotic fluid cell cultures, thereby reducing both culture time and risk of culture failure.     

Toxic masking and synergistic modulation of the estrogenic activity of chemical mixtures in a yeast estrogen screen (YES)

Background, aim and scope

Estrogenic and non-estrogenic chemicals typically co-occur in the environment. Interference by non-estrogenic chemicals may confound the assessment of the actual estrogenic activity of complex environmental samples. The aim of the present study was to investigate whether, in which way and how seriously the estrogenic activity of single estrogens and the observed and predicted joint action of estrogenic mixtures is influenced by toxic masking and synergistic modulation caused by non-estrogenic chemical confounders.

Materials and methods

The yeast estrogen screen (YES) was adapted so that toxicity and estrogenicity could be quantified simultaneously in one experimental run. Mercury, two organic solvents (dimethyl sulfoxide (DMSO) and 2,4-dinitroaniline), a surfactant (LAS-12) and the antibiotic cycloheximide were selected as toxic but non-estrogenic test chemicals. The confounding impact of selected concentrations of these toxicants on the estrogenic activity of the hormone 17ß-estradiol was determined by co-incubation experiments. In a second step, the impact of toxic masking and synergistic modulation on the predictability of the joint action of 17ß-estradiol, estrone and estriol mixtures by concentration addition was analysed.

Results

Each of the non-estrogenic chemicals reduced the apparent estrogenicity of both single estrogens and their mixtures if applied at high, toxic concentrations. Besides this common pattern, a highly substance- and concentration-dependent impact of the non-estrogenic toxicants was observable. The activity of 17ß-estradiol was still reduced in the presence of only low or non-toxic concentrations of 2,4-dinitroaniline and cycloheximide, which was not the case for mercury and DMSO. A clear synergistic modulation, i.e. an enhanced estrogenic activity, was induced by the presence of slightly toxic concentrations of LAS-12. The joint estrogenic activity of the mixture of estrogens was affected by toxic masking and synergistic modulation in direct proportion to the single estrogens, which allowed for an adequate adaptation of concentration addition and thus unaffected predictability of the joint estrogenicity in the presence of non-estrogenic confounders.

Discussion

The modified YES proved to be a reliable system for the simultaneous quantification of yeast toxicity and estrogen receptor activation. Experimental results substantiate the available evidence for toxic masking as a relevant phenomenon in estrogenicity assessment of complex environmental samples. Synergistic modulation of estrogenic activity by non-estrogenic confounders might be of lower importance. The concept of concentration addition is discussed as a valuable tool for estrogenicity assessment of complex mixtures, with deviations of the measured joint estrogenicity from predictions indicating the need for refined analyses.

Conclusions

Two major challenges are to be considered simultaneously for a reliable analysis of the estrogenic activity of complex mixtures: the identification of known and suspected estrogenic compounds in the sample as well as the substance- and effect-level-dependent confounding impact of non-estrogenic toxicants.

Recommendations and perspectives

The application of screening assays such as the YES to complex mixtures should be accompanied by measures that safeguard against false negative results which may be caused by non-estrogenic but toxic confounders. Simultaneous assessments of estrogenicity and toxicity are generally advisable.     

Biodegradation potential of MTBE in a fractured chalk aquifer under aerobic conditions in long-term uncontaminated and contaminated aquifer microcosms

The potential for aerobic biodegradation of MTBE in a fractured chalk aquifer is assessed in microcosm experiments over 450 days, under in situ conditions for a groundwater temperature of 10 °C, MTBE concentration between 0.1 and 1.0 mg/L and dissolved O₂ concentration between 2 and 10 mg/L. Following a lag period of up to 120 days, MTBE was biodegraded in uncontaminated aquifer microcosms at concentrations up to 1.2 mg/L, demonstrating that the aquifer has an intrinsic potential to biodegrade MTBE aerobically. The MTBE biodegradation rate increased three-fold from a mean of 6.6 ± 1.6 μg/L/day in uncontaminated aquifer microcosms for subsequent additions of MTBE, suggesting an increasing biodegradation capability, due to microbial cell growth and increased biomass after repeated exposure to MTBE. In contaminated aquifer microcosms which also contained TAME, MTBE biodegradation occurred after a shorter lag of 15 or 33 days and MTBE biodegradation rates were higher (max. 27.5 μg/L/day), probably resulting from an acclimated microbial population due to previous exposure to MTBE in situ. The initial MTBE concentration did not affect the lag period but the biodegradation rate increased with the initial MTBE concentration, indicating that there was no inhibition of MTBE biodegradation related to MTBE concentration up to 1.2 mg/L. No minimum substrate concentration for MTBE biodegradation was observed, indicating that in the presence of dissolved O₂ (and absence of inhibitory factors) MTBE biodegradation would occur in the aquifer at MTBE concentrations (ca. 0.1 mg/L) found at the front of the ether oxygenate plume. MTBE biodegradation occurred with concomitant O₂ consumption but no other electron acceptor utilisation, indicating biodegradation by aerobic processes only. However, O₂ consumption was less than the stoichiometric requirement for complete MTBE mineralization, suggesting that only partial biodegradation of MTBE to intermediate organic metabolites occurred. The availability of dissolved O₂ did not affect MTBE biodegradation significantly, with similar MTBE biodegradation behaviour and rates down to ca. 0.7 mg/L dissolved O₂ concentration. The results indicate that aerobic MTBE biodegradation could be significant in the plume fringe, during mixing of the contaminant plume and uncontaminated groundwater and that, relative to the plume migration, aerobic biodegradation is important for MTBE attenuation. Moreover, should the groundwater dissolved O₂ concentration fall to zero such that MTBE biodegradation was inhibited, an engineered approach to enhance in situ bioremediation could supply O₂ at relatively low levels (e.g. 2–3 mg/L) to effectively stimulate MTBE biodegradation, which has significant practical advantages. The study shows that aerobic MTBE biodegradation can occur at environmentally significant rates in this aquifer, and that long-term microcosm experiments (100s days) may be necessary to correctly interpret contaminant biodegradation potential in aquifers to support site management decisions.     

Substance-related environmental monitoring

Background  Due to the requirements of the EU Water Framework Directive and other legal regulations (e.g., national laws like the German Federal Soil Protection Act), but also due to the implementation of the new EU chemicals management system REACH, environmental monitoring will gain increasing importance for the surveillance of environmental quality as well as for the assessment of chemicals. Against this background, the Work Group on ‘Environmental Monitoring’ of the Division of ‘Environmental Chemistry and Ecotoxicology’ within the German Chemical Society has compiled a position paper on substance-related environmental monitoring. Scope  Core elements of this position paper are the definitions of important terms like monitoring, exposure monitoring, effect monitoring, and integrated monitoring. Moreover, temporal and spatial aspects (monitoring of spatial distributions, trend monitoring, and retrospective monitoring) and their applications are discussed. The main focus of this position paper is the coverage of aspects which have to be observed for the preparation and implementation of a monitoring program. Essential is the clear specification of the targets of the monitoring which determine the development of the monitoring concept and its realization, e.g., if environmental media (compartments) or organisms are most appropriate as samples for the aim of the study. Of course, also the properties of the target substances are important (e.g., lipophilicity/bioaccumulation as pre-requisite for an exposure monitoring with organisms). Finally, the monitoring phases of sample planning, sampling, storage and transport of samples, selection of analytical methods, quality assurance measures as well as reporting are discussed. Perspectives  An important issue for the future is to link the quantification of chemicals in environmental compartments (exposure and pollution monitoring) more closely to the study of biological effects (effect monitoring) than has been the case up to now. Furthermore, by inclusion of a spatial differentiation, a comprehensive evaluation of the state of an ecosystem can be obtained and the relevance of the results improved. Practical examples of monitoring studies which illustrate various aspects covered in this position paper will be presented in a series of publications by members of the Work Group in the following issues of this journal.

Impact of water saturation level on arsenic and metal mobility in the Fe-amended soil

The impact of water saturation level (oxidizing-reducing environment) on As and metal solubility in chromium, copper, arsenic (CCA)-contaminated soil amended with Fe-containing materials was studied. The soil was mixed with 0.1 and 1 wt% of iron grit (Fe(0)) and 1, 7 and 15 wt% of oxygen scarfing granulate (OSG, a by-product of steel processing). Solubility of As and metals was evaluated by a batch leaching test and analysis of soil pore water. Soil saturation with water greatly increased As solubility in the untreated as well as in the Fe-amended soil. This was related to the reductive dissolution of Fe oxides and increased concentration of As(III) species. Fe amendments showed As reducing capacity under both oxic and anoxic conditions. The cytotoxicity of the soil pore water correlated with the concentration of As(III). The Fe-treatments as well as water saturation of soil were less significant for the solubility of Cu, Cr and Zn than for As. The batch leaching test used for waste characterization substantially underestimated As solubility that could occur under water-saturated (anaerobic) conditions. In the case of soil landfilling, other techniques than Fe-stabilization of As containing soil should be considered.     

Occurrence and congener specific profiles of polybrominated diphenyl ethers and their hydroxylated and methoxylated derivatives in breast milk from Catalonia

The presence of polybrominated diphenyl ethers (PBDEs) from mono to hepta brominated and 11 hydroxylated (OH-) and methoxylated (MeO-) PBDEs was examined in 37 breast milk samples collected from 11 mothers living in Barcelona. An extraction method based on accelerated solvent extraction followed by gas chromatography coupled to high resolution mass spectrometry was used to inequivocally identify all target compounds at the low pg g(-1) lw level. Data obtained were examined for absolute and relative concentrations and specific PBDE, OH- and MeO-PBDE congener patterns. Sigma PBDE concentration ranged between 1,161 and 1,372,797 pg g(-1) lw and BDEs 47, 99, 100, 153 and 183 accounted for more than 80% of the total PBDEs. All tri and tetra OH- and MeO-PBDEs compounds were detected at levels between 6 and 14,984 pg g(-1)lw. The median ratio OH/PBDE and MeO-PBDEs/PBDEs was from 2.9% to 1.6%, respectively, suggesting either that PBDE metabolism to OH- and MeO- derivatives is not an important degradation route in humans or either OH- and MeO-PBDEs are rapidly excreted. No significant correlation was observed between PBDEs and OH- and MeO-PBDE, although OH- and OMe-PBDEs co-occurred in mothers' milk (R(2)=0.5349). According to the daily intake of PBDEs and OH- and MeO-PBDEs, which was between 0.47 and 363 ng d(-1) (excluding a smoking donor), potential health risks associated with these compounds are assessed.     

Establishment of a constructed wetland in extreme dryland

Background, aim, and scope

The project was set to construct an extensive wetland in the southernmost region of Israel at Kibbutz Neot Smadar (30°02′45″ N and 35°01′19″ E). The results of the first period of monitoring, summary, and perspectives are presented. The constructed wetland (CW) was built and the subsequent monitoring performed in the framework of the Southern Arava Sustainable Waste Management Plan, funded by the EU LIFE Fund. The specific aims were: (1) To end current sewage disposal and pollution of the ground, the aquifer, and the dry river bed (wadi) paths by biologically treating the sewage as part of the creation of a sustainable wetland ecosystem. (2) Serve as an example of CW in the Negev highlands and the Arava Valley climates for neighboring communities and as a test ground for plants and building methods appropriate to hyper arid climate. (3) Serve as an educational resource and tourist attraction for groups to learn about water reuse, recycling, local wildlife and migrating birds, including serving the heart of a planned Ecological–Educational Bird Park. This report is intended to allow others who are planning similar systems in hyper arid climates to learn from our experience.

Materials and methods

The project is located in an extreme arid desert with less than 40 mm of rain annually and temperature ranges of ?5°C to +42°C. The site receives 165–185 m³ of municipal and agricultural wastes daily, including cowshed and goat wastes and winery outflow.

Results

The CW establishment at Neot Smadar was completed in October 2006. For 8 months, clean water flowed through the system while the plants were taking root. In June 2007, the wetland was connected to the oxidation pond and full operation began. Because of seepage and evaporation, during the first several months, the water level was not high enough to allow free flow from one bed to the next. To bed A, the water was pumped periodically from the oxidation pond (Fig. 1) and from there flowed by gravitation through the rest of the system. The initial results of the monitoring are promising. In nearly all measurements, the system succeeded as expected to reduce levels of contaminants at least to the level acceptable for irrigating fruit trees and often to the level of unlimited irrigation. The introduction of the plants in the system and their physiological performance were evaluated and were found to correlate well to the quality of water in the various beds.

Discussion

It should be said at the outset that evaluation of the performance of a CW system is a long-term process. Thus, the main aim of this report is to present the problems, difficulties, preliminary results, and concepts concerned with the first stage of establishment of CW in an extremely dry region.

Conclusions

The CW system was designed to dispose of municipal and agricultural wastes in a way that not merely reduces pollution, but adds to environmental quality by creating accessible parkland for local residents and tourists. Several factors affected the performance of the system at the initial stages of operation: ecological balance between microbes and plants, big seasonal variations, seepage and evaporation reduced the flow in the initial operation of the system. Despite the initial difficulties, the quality of water coming out the system is acceptable for irrigation.

Recommendations and perspectives

The CW can function well under extreme dryland conditions. The oxidation pond was the major source of evaporation and bad odors. Therefore, alternatives to the oxidation pond are needed. Cost effectiveness of the system still has to be evaluated systematically.     

Adapting a geographical information system-based water resource management to the needs of the Romanian water authorities

Background, aim, and scope

The need for global and integrated approaches to water resources management, both from the quantitative and the qualitative point of view, has long been recognized. Water quality management is a major issue for sustainable development and a mandatory task with respect to the implementation of the European Water Framework Directive as well as the Swiss legislation. However, data modelling to develop relational databases and subsequent geographic information system (GIS)-based water management instruments are a rather recent and not that widespread trend. The publication of overall guidelines for data modelling along with the EU Water Framework Directive is an important milestone in this area. Improving overall water quality requires better and more easily accessible data, but also the possibility to link data to simulation models. Models are to be used to derive indicators that will in turn support decision-making processes. For this whole chain to become effective at a river basin scale, all its components have to become part of the current daily practice of the local water administration. Any system, tool, or instrument that is not designed to meet, first of all, the fundamental needs of its primary end-users has almost no chance to be successful in the longer term.

Materials and methods

Although based on a pre-existing water resources management system developed in Switzerland, the methodological approach applied to develop a GIS-based water quality management system adapted to the Romanian context followed a set of well-defined steps: the first and very important step is the assessment of needs (on the basis of a careful analysis of the various activities and missions of the water administration and other relevant stakeholders in water management related issues). On that basis, a conceptual data model (CDM) can be developed, to be later on turned into a physical database. Finally, the specifically requested additional functionalities (i.e. functionalities not provided by classical commercial GIS software), also identified during the assessment of needs, are developed. This methodology was applied, on an experimental basin, in the Ialomita River basin.

Results

The results obtained from this action-research project consist of a set of tangible elements, among which (1) a conceptual data model adapted to the Romanian specificities regarding water resources management (needs, data availability, etc.), (2) a related spatial relational database (objects and attributes in tables, links, etc.), that can be used to store the data collected, among others, by the water administration, and later on exploited with geographical information systems, (3) a toolbar (in the ESRI environment) offering the requested data processing and visualizing functionalities. Lessons learned from this whole process can be considered as additional, although less tangible, results.

Discussion

The applied methodology is fairly classical and did not come up with revolutionary results. Actually, the interesting aspects of this work are, on the one hand, and obviously, the fact that it produced tools matching the needs of the local (if not national) water administration (i.e. with a good chance of being effectively used in the day-to-day practice), and, on the other hand, the adaptations and adjustments that were needed both at the staff level and in technical terms.

Conclusions

This research showed that a GIS-based water management system needs to be backed by some basic data management tools that form the necessary support upon which a GIS can be deployed. The main lesson gained is that technology transfer has to pay much attention to the differences in existing situations and backgrounds in general, and therefore must be able to show much flexibility. The fact that the original objectives could be adapted to meet the real needs of the local end-users is considered as a major aspect in achieving a successful adaptation and development of water resources management tools. Time needed to setup things in real life was probably the most underestimated aspect in this technology transfer process.

Recommendations and perspectives

The whole material produced (conceptual data model, database and GIS tools) was disseminated among all river basin authorities in Romania on the behalf of the national water administration (ANAR). The fact that further developments, for example, to address water quantity issues more precisely, as envisaged by ANAR, can be seen as an indication that this project succeeded in providing an appropriate input to improve water quality in Romania on the long term.