Omphalocele is known to be associated with genetic anomalies like trisomy 13, 18 and Beckwith–Wiedemann syndrome, but not with Turner syndrome (TS). Our aim was to assess the incidence of omphalocele in fetuses with TS, the phenotype of this association with other anomalies, their karyotype, and the fetal outcomes.
Method
Retrospective multicenter study of fetuses with confirmed diagnosis of TS. Data were extracted from a detailed questionnaire sent to specialists in prenatal ultrasound.
Results
680 fetuses with TS were included in this analysis. Incidence of small omphalocele in fetuses diagnosed ≥12 weeks was 3.1%. Including fetuses diagnosed before 12 weeks, it was 5.1%. 97.1% (34/35) of the affected fetuses had one or more associated anomalies including increased nuchal translucency (≥3 mm) and/or cystic hygroma (94.3%), hydrops/skin edema (71.1%), and cardiac anomalies (40%). The karyotype was 45,X in all fetuses. Fetal outcomes were poor with only 1 fetus born alive.
Conclusion
TS with 45,X karyotype but not with X chromosome variants is associated with small omphalocele. Most of these fetuses have associated anomalies and a poor prognosis. Our data suggest an association of TS with omphalocele, which is evident from the first trimester. 相似文献
Markgrafenheide-Hütelmoor covers a total area of 1000 ha (about 490 ha are coastal moor) and a coastline of about 6 km. This touristy area belongs to the city of Rostock in Germany. As response to sea level rise and heavy coastal erosion, the small seaside resort Markgrafenheide received a comprehensive storm surge protection until 2006. Subsequently, the adjacent Hütelmoor was flooded with the aim to restore it as a brackish coastal moor. Coastal protection measures at the Baltic Sea coastline were abandoned to enable natural dynamics, a coastal realignment and salt water intrusions. The entire process until full implementation took 14 years and was associated with very problematic public participation and a strong local polarization. Based on a literature and media review, two surveys, and expert interviews we retrospectively document and analyse the planning process with focus on public information, perception and participation. The local population and holidaymakers did not perceive coastal changes and if, did not associate them with climate change. Interviewees remembered single storm surges, but felt save from it and sea level rise was not perceived as a threat. 89% said that they feel insufficiently informed about the combined coastal protection wetland restoration measure, but did not use the offered information possibilities. 81% had their information from newspapers and freely distributed advertisers. It seems that insufficient information was the major reason for the problems with local acceptance and public participation. The media played a dominating role. The decline of traditional newspapers and the growths of free advertisers seemed to have a negative impact on quality of information and favoured a polarization. Additionally, we discuss local specifics like the cultural background (GDR history), traditions, frustration and the relatively old population and their role in public participation. We strongly promote a pro-active and long-term information and public relation strategy. 相似文献
Forest certification, particularly that of the Forest Stewardship Council (FSC), is frequently claimed to constitute an effective and democratic private governance arrangement for responsible forestry. It has, however, recently been questioned whether this view holds true for the northernmost countries, which have traditionally been presented as successful examples of forest certification. Yet there is little research on the perceived legitimacy of forest certification at the local level, which is where the standard implementation takes place. This paper examines how the perceived legitimacy of forest certification is created as well as challenged at the local level in Sweden, drawing on Steffek's [2009. Discursive legitimation in environmental governance. Forest Policy and Economics, 11, 313–318] conceptualisation of discursive legitimation and Bernstein's [2011. Legitimacy in intergovernmental and non-state global governance. Review of International Political Economy, 18 (1), 17–51] definition of legitimacy as well as semi-structured interviews with forest companies, reindeer husbandry (indigenous Sámi) and environmental non-governmental organisations (ENGOs). The results reveal that local ENGOs question the FSC's decision-making process and results, while both the ENGOs and reindeer husbandry see few opportunities to influence long-term forest management. These findings highlight the difficulties of managing power asymmetries in certification and the challenges involved when certification standards are translated from policy to practice. 相似文献
Soils emit a large variety of volatile organic compounds. In natural ecosystems, measurements of microbial volatile organic compound (MVOC) exchange rates between soil and atmosphere are difficult due to e.g. the spatial heterogeneity of the belowground organisms, and due to the many potential sources for the same compounds. We measured in laboratory conditions the MVOC emission rates and spectra of eight typical fungi occurring in boreal forest soils. The studied species are decomposers (Gymnopilus penetrans, Ophiostoma abietinum), ectomycorrhizal (Cenococcum geophilum, Piloderma olivaceum, Suillus variegatus, Tomentellopsis submollis) and endophytic fungi (Meliniomyces variabilis, Phialocephala fortinii). The MVOC emissions contained altogether 21 known and 6 unidentified compounds whose emission rates were >0.1 μg g(DW)?1 h?1. The most abundant compounds were the short-chain carbonyl compounds (acetone and acetaldehyde). The greatest carbonyl emissions were measured from P. olivaceum (1.9 mg acetone g(DW)?1 h?1) and P. fortinii (0.114 mg acetaldehyde g(DW)?1 h?1). Terpenoid emissions (isoprene, mono- and sesquiterpenes) were detected from some fungal cultures, but in relatively small amounts. We conclude that soil micro-organisms can potentially be responsible for significant emissions of volatiles, especially short-chain oxygenated compounds, to the below-canopy atmosphere. 相似文献
Explorations of future land use change are important to understand potential conflicts between competing land uses, trade-offs associated with particular land change trajectories, and the effectiveness of policies to steer land systems into desirable states. Most model-based explorations and scenario studies focused on conversions in broad land use classes, but disregarded changes in land management or focused on individual sectors only. Using the European Union (EU) as a case study, we developed an approach to identifying typical combinations of land cover and management changes by combining the results of multimodel simulations in the agriculture and forest sectors for four scenarios from 2000 to 2040. We visualized land change trajectories by mapping regional hotspots of change. Land change trajectories differed in extent and spatial pattern across the EU and among scenarios, indicating trajectory-specific option spaces for alternative land system outcomes. In spite of the large variation in the area of change, similar hotspots of land change were observed among the scenarios. All scenarios indicate a stronger polarization of land use in Europe, with a loss of multifunctional landscapes. We analyzed locations subject to change by comparing location characteristics associated with certain land change trajectories. Results indicate differences in the location conditions of different land change trajectories, with diverging impacts on ecosystem service provisioning. Policy and planning for future land use needs to account for the spatial variation of land change trajectories to achieve both overarching and location-specific targets.