Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imaging

Objective

The purpose of this study was to explore the diagnostic yield and clinical utility of trio-based rapid whole exome sequencing (rWES) in pregnancies of fetuses with a wide range of congenital anomalies detected by ultrasound imaging.

Methods

In this observational study, we analyzed the first 54 cases referred to our laboratory for prenatal rWES to support clinical decision making, after the sonographic detection of fetal congenital anomalies. The most common identified congenital anomalies were skeletal dysplasia (n = 20), multiple major fetal congenital anomalies (n = 17) and intracerebral structural anomalies (n = 7).

Results

A conclusive diagnosis was identified in 18 of the 54 cases (33%). Pathogenic variants were detected most often in fetuses with skeletal dysplasia (n = 11) followed by fetuses with multiple major fetal congenital anomalies (n = 4) and intracerebral structural anomalies (n = 3). A survey, completed by the physicians for 37 of 54 cases, indicated that the rWES results impacted clinical decision making in 68% of cases.

Conclusions

These results suggest that rWES improves prenatal diagnosis of fetuses with congenital anomalies, and has an important impact on prenatal and peripartum parental and clinical decision making.     

Fine-scale distribution of juvenile Atlantic and Mediterranean loggerhead turtles (Caretta caretta) in the Mediterranean Sea

Loggerhead turtles nesting in the Mediterranean Sea exhibit remarkable genetic structuring. This paper tests the hypothesis that young loggerhead turtles from different rookeries do not distribute homogeneously among the major Mediterranean foraging grounds, due to a complex pattern of surface currents. We extracted long fragments of mitochondrial DNA from 275 stranded or bycaught juvenile turtles from six foraging grounds (Catalano-Balearic Sea, Algerian basin, Tyrrhenian Sea, Adriatic Sea, northern Ionian Sea and southern Levantine Sea). We used a Bayesian mixed-stock analysis to estimate the contributions from rookeries in the Mediterranean, the North-west Atlantic and Cape Verde to the studied foraging grounds. Differences were found in the relative contribution of juvenile turtles of Atlantic and Mediterranean origin to each foraging ground. A decreasing proportion of Atlantic juveniles was detected along the main surface current entering the Mediterranean, with a high prevalence of turtles from eastern Florida in the Algerian basin and lower numbers elsewhere. In regard to the turtles of Mediterranean origin, juveniles from Libya prevailed in central and western Mediterranean foraging grounds other than the Algerian basin. Conversely, the Adriatic Sea was characterised by a large presence of individuals from western Greece, while the southern Levantine Sea was inhabited by a heterogeneous mix of turtles from the eastern Mediterranean rookeries (Turkey, Lebanon and Israel). Overall, the distribution of juveniles may be related to surface circulation patterns in the Mediterranean and suggests that fisheries might have differential effects on each population depending on the overlap degree between foraging and fishing grounds.     

Review and assessment of models for predicting the migration of radionuclides from catchments

The present paper summarises the results of the review and assessment of models developed for predicting the migration of radionuclides from catchments to water bodies. The models were classified and evaluated according to their main methodological approaches. A retrospective analysis of the principles underpinning the model development in relation to experimental finding and results was carried out. It was demonstrated that most of the various conceptual approaches of different modellers can be integrated in a general, harmonised perspective supported by a variety of experimental evidences. Shortcomings and advantages of the models were discussed.     

Simulation der aeroben und anaeroben Abwasserreinigung mit einfachen Mitteln

Before waste-water-relevant organic materials are to be found in large quantities, their specific behavior in sewage treatment plants must be known. With the aid of the OECD simulation test #303 A, an estimation of their elimination in biological clarification stages can be made. In this work, an economical and continuous testing system is presented, which consists of a polyester flies bound to an activated biosludge with a high inoculum density, allowing one to measure no only the elimination of individual substances, but also the specific degree of mineralization. The toxicity of the activated biosludge and the nitrifying substances can also be examined. With the described testing procedure, it is possible to determine the rate of degradation within only a few hours. Finally, it can also be seen that it is possible to reliably and continuously determine the rate of anaerobic, biological degradability through the use of such a modified testing procedure.     

Melanin- and carotenoid-dependent signals of great tits (<Emphasis Type="Italic">Parus major</Emphasis>) relate differently to metal pollution

Due to their high phenotypic plasticity, the expression of secondary sexual characteristics is particularly sensitive to stress. Here, we investigated the expression of two conspicuous visual signals in great tits (Parus major) in a metal pollution gradient. In three study sites with marked differences in metal contamination (mainly lead, cadmium, copper and zinc), we compared melanin and carotenoid colouration of great tits. While carotenoid colouration (yellow breast) was negatively related to metal pollution, the size of a melanin trait (breast stripe) was larger in the most polluted sites. Environmental pollutants not only affect the expression of conspicuous signals but may even enhance, directly or indirectly, a signal of male quality such as breast stripe. Our results also support the multiple messages hypothesis predicting that different signals highlight different aspects of geno- and phenotypic condition of the bearer.     

Understanding the Ecology of Blue Elderberry to Inform Landscape Restoration in Semiarid River Corridors

Societal constraints often limit full process restoration in large river systems, making local rehabilitation activities valuable for regeneration of riparian vegetation. A target of much mitigation and restoration is the federally threatened Valley elderberry longhorn beetle and its sole host plant, blue elderberry, in upper riparian floodplain environments. However, blue elderberry ecology is not well understood and restoration attempts typically have low success rates. We determined broad-scale habitat characteristics of elderberry in altered systems and examined associated plant species composition in remnant habitat. We quantified vegetation community composition in 139 remnant riparian forest patches along the Sacramento River and elderberry stem diameters along this and four adjacent rivers. The greatest proportion of plots containing elderberry was located on higher and older floodplain surfaces and in riparian woodlands dominated by black walnut. Blue elderberry saplings and shrubs with stems <5.0 cm in diameter were rare, suggesting a lack of recruitment. A complex suite of vegetation was associated with blue elderberry, including several invasive species which are potentially outcompeting seedlings for light, water, or other resources. Such lack of recruitment places increased importance on horticultural restoration for the survival of an imperiled species. These findings further indicate a need to ascertain whether intervention is necessary to maintain functional and diverse riparian woodlands, and a need to monitor vegetative species composition over time, especially in relation to flow regulation.     

Tobacco Plants Detect a Decrease of Environmental Genotoxicity in Toulouse (France)

Tobacco plants, heterozygous for two independent loci involved in the chlorophyll parenchyma differentiation, allow the genotoxic effects of the atmosphere of the industrial estate South of Toulouse to be estimated. Somatic spots of green cellular colonies on yellow-green background, were counted to calculate the cellular rates of reversion. Two experiments were carried out in 1981, and in 1997. A general decrease of genotoxic effects was observed. These observations were interpreted as being due to a general decrease of the air pollution evaluated by the development of the concentrations of three toxic gases before and after the implementation of cleanup devices. The results obtained demonstrate the efficiency of this bio-indicator, which is easy to use and capable of integrating, in situ, genotoxic variations throughout the duration of plants' growth.     

Trends of PCDD/F and PCB concentrations and depositions in ambient air in Northwestern Germany

Time series of polychlorinated dioxins and furans (PCDD/F) and polychlorinated biphenyls (PCB) in ambient air of a large conurbation in North-Western Germany are presented and analyzed. The trend of PCDD/F concentrations, starting from as early as 1988, shows a pronounced decrease by at least one order of magnitude, demonstrating that the emission reductions were effective. The PCDD/F depositions also have decreased by a factor of 5 since 1992. However, both trends have leveled out since 2005. Time series of PCB concentrations and depositions starting in 1994 show only slight decreases for the concentrations and almost no decrease for the depositions. From the decay rates following first order kinetics, half-lives in the order of 5-15 years for the PCDD/F and 15-31 years for the sum of the six indicator PCB could be calculated, which are much longer than the half-lives estimated from their reactivity towards the OH radical. Apparently, small fresh emissions (PCDD/F), considerable secondary emissions and evaporation from contaminated soils slow down their decay in the atmosphere of big conurbations. Analyzing the decay rates of individual PCB congeners shows that the lower chlorinated and more volatile ones are removed faster than the higher chlorinated congeners, probably via gas phase reactions with the OH radical. It can be concluded from the present study that the input of PCDD/F and PCB into the food chain via the air path will continue for another one or two decades in big conurbations.     

Persistence of culturable Escherichia coli fecal contaminants in dairy alpine grassland soils

Our knowledge of Escherichia coli (E. coli) ecology in the field is very limited in the case of dairy alpine grassland soils. Here, our objective was to monitor field survival of E. coli in cow pats and underlying soils in four different alpine pasture units, and to determine whether the soil could constitute an environmental reservoir. E. coli was enumerated by MPN using a selective medium. E. coli survived well in cow pats (10(7) to 10(8) cells g(-1) dry pat), but cow pats disappeared within about 2 mo. In each pasture unit, constant levels of E. coli (10(3) to 10(4) cells g(-1) dry soil) were recovered from all topsoil (0-5 cm) samples regardless of the sampling date, that is, under the snow cover, immediately after snow melting, or during the pasture season (during and after the decomposition of pats). In deeper soil layers below the root zone (5-25 cm), E. coli persistence varied according to soil type, with higher numbers recovered in poorly-drained soils (10(3) to 10(4) cells g(-1) dry soil) than in well-drained soils (< 10(2) cells g(-1) dry soil). A preliminary analysis of 38 partial uidA sequences of E. coli from pat and soils highlighted a cluster containing sequences only found in this work. Overall, this study raises the possibility that fecal E. coli could have formed a naturalized (sub)population, which is now part of the indigenous soil community of alpine pasture grasslands, the soil thus representing an environmental reservoir of E. coli.