Prenatal DNA diagnosis of Noonan syndrome in a fetus with massive hygroma colli,pleural effusion and ascites

Prenatal molecular genetic diagnosis for Noonan syndrome I is reported. Noonan syndrome was suspected because of large cystic hygroma colli, massive pleural effusion and ascites at 23 weeks of gestation and normal karyotype (46,XX). DNA was prepared from amnion cells and screened for mutations in the PTPN11 gene. In exon 8, a missense mutation (S285F) was found. Delivery was induced at 33 weeks of gestation because of silent cardiotocography (CTG). Despite immediate drainage of the hydrothorax, mechanical ventilation was insufficient and the child died 9 h after birth due to severe pulmonary hypoplasia. Pleural punctate was enriched for small lymphocytes and thus was characterized as chylus. Prenatal ultrasound findings in Noonan syndrome usually are unspecific and rarely lead to a diagnosis. However, with the combination of cystic hygroma, pleural effusion, ascites and normal karyotype Noonan syndrome should be considered and DNA testing for PTPN11 mutations may be appropriate. Malformations of lymphatic vessels and/or chylothorax in Noonan syndrome seem to be more frequent than usually anticipated. Copyright © 2005 John Wiley & Sons, Ltd.     

Governance models for nature-based solutions: Seventeen cases from Germany

Nature-based solutions (NBS) for mitigating climate change are gaining popularity. The number of NBS is increasing, but research gaps still exist at the governance level. The objectives of this paper are (i) to give an overview of the implemented NBS for flood risk management and mitigation in Germany, (ii) to identify governance models that are applied, and (iii) to explore the differences between these models. The results of a hierarchical clustering procedure and a qualitative analysis show that while no one-size-fits-all governance model exists, polycentricism is an important commonality between the projects. The study concludes by highlighting the need for further research on traditional governance model reconversion and paradigm changes. We expect the findings to identify what has worked in the past, as well as what is important for the implementation of NBS for flood risk management in future projects.Electronic supplementary materialThe online version of this article (10.1007/s13280-020-01412-x) contains supplementary material, which is available to authorized users.     

Training future experts in “biodiversity and ecosystem services”: a progress report

Biodiversity is essential for multiple aspects of human life and well-being, but many current assessments of the functioning of biodiversity and ecosystems, understanding of risks posed by environmental change and the best practice of their management of ecosystems are lacking a unified scientific and conceptual basis. Methods such as scenario analysis, and terms such as ecosystem services, are widely used, but their meaning is understood in many different ways depending on context, user needs and experience of researchers. In order to advance the conceptual basis for ecosystem analysis and management in a rapidly changing world, as well as the ability of young scientists to reflect upon these concepts, we have organised five 2-week-long summer schools in Peyresq, a remote village in the Southern French Alps. In total 173 participants have worked intensively with 69 experienced researchers and a team of conveners and tutors in order to discuss a broad range of views on topics on ecosystem analysis and functioning. Topics ranged from conditions of and threats to various ecosystems due to environmental change, models and scenarios for assessment, stakeholder perceptions and needs for information, to the social and economic contexts for biodiversity. We report our experience from these schools, present the training concept which has emerged from them and suggest lines of further development.

Release from bats: genetic distance and sensoribehavioural regression in the Pacific field cricket, Teleogryllus oceanicus

The auditory thresholds of the AN2 interneuron and the behavioural thresholds of the anti-bat flight-steering responses that this cell evokes are less sensitive in female Pacific field crickets that live where bats have never existed (Moorea) compared with individuals subjected to intense levels of bat predation (Australia). In contrast, the sensitivity of the auditory interneuron, ON1 which participates in the processing of both social signals and bat calls, and the thresholds for flight orientation to a model of the calling song of male crickets show few differences between the two populations. Genetic analyses confirm that the two populations are significantly distinct, and we conclude that the absence of bats has caused partial regression in the nervous control of a defensive behaviour in this insect. This study represents the first examination of natural evolutionary regression in the neural basis of a behaviour along a selection gradient within a single species.     

Set-aside management: How do succession, sowing patterns and landscape context affect biodiversity?

European Union (EU) member states set aside between 5 and 15% of arable land during the last two decades, but abolition of the set-aside scheme in 2008 caused a sudden loss in habitat availability and biodiversity in agricultural landscapes. Management of set-aside has many facets and in this perspective paper we focus on the biodiversity effects of successional age, sowing strategies and landscape context. Young, 1-2-year-old set-asides have been initially considered to be too ephemeral to have any conservation value. However, when a rich seed and bud bank is available, a species-rich natural (secondary) succession can be observed. Arable (annual) weed communities in the first two years of succession can even include endangered plant species with associated rare insect consumers. Furthermore, many bird species benefit from early-successional habitats, whereas small mammal communities are richer in older habitats. If the local plant species pool is poor, sowings of diverse mixtures from regional seed collections can be recommended. Set-aside managers using species-rich sowings often experience that dominant weeds suppress the less competitive annual species. This trend to species-poor communities can be avoided by intraspecific aggregation of competitively weak species. Broadening the spatial scale from the plot to the landscape, efficiency of set-aside is highest in simple landscapes, where set-aside exhibits greatest effect in enhancement of biodiversity and associated services such as pollination and biological control. In complex landscapes, however, additional set-aside does not add much to the high level of biodiversity and ecological processes already present. Twenty percent of semi-natural, non-crop habitat appears to be a rough threshold for enhancing biodiversity and sustaining services such as pollination and biological control, but improved set-aside management should have the potential to reduce the percentage of semi-natural non-crop habitat needed. EU policy should tailor set-aside schemes for the maintenance of biodiversity and also consider that management efficiency is higher in simple than complex landscapes.     

Combined integral and particle model for describing the dispersion,dilution, terminal layer formation and influence area from a point source discharge into a water body

Contamination of coastal water is a persistent threat to ecosystems around the world. In this study, a novel model for describing the dispersion, dilution, terminal layer formation and influence area from a point source discharge into a water body is presented and compared with field measured data. The model is a Combined Integral and Particle model (CIPMO). In the initial stage, the motion, dispersion and dilution of a buoyant jet are calculated. The output from the buoyant jet model is then coupled with a Lagrangian Advection and Diffusion model describing the far-field. CIPMO ensures that both the near- and far-field processes are adequately resolved. The model either uses empirical data or collects environmental forcing data from open source hydrodynamic models with high spatial and temporal resolution. The method for coupling the near-field buoyant jet and the particle tracking model is described and the output is discussed. The model shows good results when compared with measurements from a field study.