Multicenter clinical experience with non-invasive cell-free DNA screening for monosomy X and related X-chromosome variants

Objective

We aimed to investigate how the presence of fetal anomalies and different X chromosome variants influences Cell-free DNA (cfDNA) screening results for monosomy X.

Methods

From a multicenter retrospective survey on 673 pregnancies with prenatally suspected or confirmed Turner syndrome, we analyzed the subgroup for which prenatal cfDNA screening and karyotype results were available. A cfDNA screening result was defined as true positive (TP) when confirmatory testing showed 45,X or an X-chromosome variant.

Results

We had cfDNA results, karyotype, and phenotype data for 55 pregnancies. cfDNA results were high risk for monosomy X in 48/55, of which 23 were TP and 25 were false positive (FP). 32/48 high-risk cfDNA cases did not show fetal anomalies. Of these, 7 were TP. All were X-chromosome variants. All 16 fetuses with high-risk cfDNA result and ultrasound anomalies were TP. Of fetuses with abnormalities, those with 45,X more often had fetal hydrops/cystic hygroma, whereas those with “variant” karyotypes had different anomalies.

Conclusion

Both, 45,X or X-chromosome variants can be detected after a high-risk cfDNA result for monosomy X. When there are fetal anomalies, the result is more likely a TP. In the absence of fetal anomalies, it is most often an FP or X-chromosome variant.     

Comparison of Extraction Methods for the Detection of Tick-Borne Encephalitis Virus RNA in Goat Raw Milk and Cream Cheese

Food and Environmental Virology - Infection with the tick-borne encephalitis virus (TBEV) can cause meningitis, meningoencephalitis and myelitis in humans. TBEV is an enveloped RNA virus of the...     

Tales of science and defiance: the case for co-learning and collaboration in bridging the science/emotion divide in water recycling debates

Although science is generally assumed to be well integrated into rational decision-making models, it can be used to destabilise consultative processes, particularly when emotions are involved. Water policies are often seen as debates over technical and engineering issues, but can be highly controversial. Recycled water proposals, in particular, can create highly emotive conflicts. Through a case study regarding the rejection of recycled water proposals in the south-east Queensland, Australia, we explore the influence of science and emotions in contemporary water planning. We highlight the dangers inherent in promoting technical water planning issues at the expense of appropriate consideration of citizen concerns. Combining the science–policy interface and stakeholder engagement literatures, we advocate for collaborative decision-making processes that accommodate emotions and value judgements. A more collaborative stakeholder engagement model, founded on the principles of co-learning, has the potential to broaden the decision-making base and to promote better and more inclusive decision-making.     

Decision support tools for collaborative marine spatial planning: identifying potential sites for tidal energy devices around the Mull of Kintyre,Scotland

The expansion of offshore renewable energy production, such as wind, wave and tidal energy, is likely to lead to conflict between different users of the sea. Two types of spatial decision support tools were developed to support stakeholder workshops. A value mapping tool combines regional attributes with local knowledge. A negotiation support tool uses these value maps to support stakeholders in finding acceptable locations for tidal energy devices. Interactive value mapping proved useful to address deficiencies in data and to create credibility for these maps. The negotiation tool helped stakeholders in balancing objectives of the various stakeholders.     

Connecting international priorities with human wellbeing in low-income regions: lessons from hawksbill turtle conservation in El Salvador

Hawksbill turtles (Eretmochelys imbricata) are highly endangered in the eastern Pacific Ocean, yet their eggs continue to be an important subsistence resource for impoverished coastal residents in El Salvador. In this study, we use naturalistic inquiry to explain the realities experienced by coastal residents who share habitat with hawksbills in El Salvador, and then suggest implications of the disparities between these realities and international priorities for hawksbill conservation and community development in El Salvador and other low-income regions. To provide a context for understanding hawksbill conservation and its implications for similar challenges related to conservation and wellbeing, we first summarise the conservation context, including the emergence of sea turtle conservation in El Salvador. We then describe our naturalistic approach, including the ethnographic methodology for this study. Finally, we detail the analysis of interviews conducted with tortugueros (i.e. local sea turtle egg collectors), to help explain how hawksbills fit into local realities. Our results demonstrate that, from the perspective of tortugueros, (1) the primary importance of hawksbills is the economic value attached to egg sales, but there exists a deeper connection to local culture; (2) egg purchase by hatcheries is a socially just conservation strategy that benefits both hawksbill and human wellbeing; and (3) opportunities for local residents to participate in decision-making regarding sea turtle conservation are limited, and should be increased. We argue that harmonising international conservation priorities with local community development realities is one path towards simultaneously contributing to long-term sea turtle recovery and human wellbeing in low-income regions.     

A green garden on red clay: creating a new urban common as a form of political gardening in Cologne,Germany

In March 2012, a brownfield site in Cologne was transformed into “a green garden on red clay”, when a community garden called NeuLand (new land) was created. This paper investigates in how far NeuLand is typical for a new form of political engagement 2.0, focused on local problems at people's doorstep rather than global critiques of political systems, which finds its expression in direct actions typical for the networked society, e.g. “green flash mobs.” Its potential to provide a blueprint for imagining and enacting alternative futures and new ways for citizens to claim their “right to the city” is being assessed. NeuLand provides an experiment with new forms of (urban) commons and possibly a (re)turn to the “liveable city” to replace the current neoliberal ideal of the “entrepreneurial city” [Harvey, D., 1989. From manageralism to entrepreneuralism: the transformation of urban governance in late capitalism. Geografiska Annaler, Series B, Human Geography, 71 (1), 3–17], developing new solutions to problems of urban management and city development that extend beyond the voluntary engagement of citizens within the logic of the neoliberal “big society.” Extending the scope beyond the analysis of urban gardening projects as examples of sustainable food production, or as vehicles for fostering community cohesion, integration or social capital, the NeuLand experiment is linked to wider debates of alternative and more sustainable socio-ecological futures than those currently practised in the newly “neoliberalizing cities” of Germany.     

Contribution of women’s fisheries substantial,but overlooked,in Timor-Leste

A greater understanding of gendered roles in fisheries is necessary to value the often-hidden roles that women play in fisheries and households. We examine women’s contributions to household food and income using focus group discussions, market surveys, and landings data in six communities in Timor-Leste. Women were actively fishing more days per month than men. Gleaning was the most frequent activity and 100% of trips returned with catch for food and/or income. Mollusc and crab catches were common and exploitation appeared targeted on a dynamic reappraisal of changing food values and changing estimates of group needs. With as many as 80% of households in coastal areas involved in fishing, and at least 50% of women fishing, this highlights the current lack of women’s engagement as a critical gap in fisheries management approaches. The current androcentric dialogue limits social-ecological understanding of these systems and the potential for their effective stewardship.Electronic supplementary materialThe online version of this article (10.1007/s13280-020-01335-7) contains supplementary material, which is available to authorized users.     

Assessment of physicochemical parameters and metal distribution in bog peat of the western segment of the North European part of Russia (Arkhangelsk region)

This article is devoted to the study of physicochemical parameters and the assessment of the accumulation and distribution of metals in peat deposits from the North European part of Russia (Arkhangelsk region). Peat profiles were selected both in the area with a high anthropogenic load and in a bog remote from industrial pollution. The determination of metals was carried out by using the methods X-ray fluorescence analysis and atomic absorption spectroscopy. It was determined that the studied bogs can be attributed to the low ash type, and the recorded pH and mineralisation values make it possible to attribute these deposits to the acid-oxidising facies of oligotrophic peatlands, characteristic of taiga landscapes. Assessment of metal accumulation showed a high content of titanium, chromium, lead, nickel, vanadium, cobalt, aluminium, silicon, and copper in peat, mainly caused by the burning of fossil fuels and industrial production, as well as the burning of urban and industrial waste. The peat profiles are characterised by significant fluctuations in the content of elements in different horizons. Studies have shown the need to monitor the content of metals in peatlands from the Arkhangelsk region to assess atmospheric pollution from industrial emissions, both at the moment and in the past.

     

The role of leaf litter as a protective barrier for copper-containing pesticides in orchard soils

Environmental Science and Pollution Research - This study assessed the capacity of leaf litters to adsorb copper ions applied as a copper-based pesticide. Leaf litters of two fruit tree species...     

Nitrogen management in bioreactor landfills

One scenario for long-term nitrogen management in landfills is ex situ nitrification followed by denitrification in the landfill. The objective of this research was to measure the denitrification potential of actively decomposing and well decomposed refuse. A series of 10-l reactors that were actively producing methane were fed 400 mg NO3-N /l every 48 h for periods of 19-59 days. Up to 29 nitrate additions were either completely or largely depleted within 48 h of addition and the denitrification reactions did not adversely affect the leachate pH. Nitrate did inhibit methane production, but the reactors recovered their methane-producing activity with the termination of nitrate addition. In well decomposed refuse, the nitrate consumption rate was reduced but was easily stimulated by the addition of either acetate or an overlayer of fresh refuse. Addition of acetate at five times the amount required to reduce nitrate did not lead to the production of NH4+ by dissimilatory nitrate reduction. The most probable number of denitrifying bacteria decreased by about five orders of magnitude during refuse decomposition in a reactor that did not receive nitrate. However, rapid denitrification commenced immediately with nitrate addition. This study shows that the use of a landfill as a bioreactor for the conversion of nitrate to a harmless byproduct, nitrogen gas, is technically viable.