Legitimacy has received comparatively less attention than societal resilience in the context of flooding, thus methods for assessing and monitoring the legitimacy of flood risk governance ...arrangements are noticeably lacking. This study attempts to address this gap by assessing the legitimacy of flood risk governance arrangements in six European countries through cross-disciplinary and comparative research methods. On the basis of this assessment, recommendations to enhance the legitimacy of flood risk governance in Europe are presented.
Intensifying global trade will result in increased numbers of plant pest and pathogen species inadvertently being transported along with cargo. This paper examines current mechanisms for prevention ...and management of potential introductions of forest insect pests and pathogens in the European Union (EU). Current European legislation has not been found sufficient in preventing invasion, establishment and spread of pest and pathogen species within the EU. Costs associated with future invasions are difficult to estimate but past invasions have led to negative economic impacts in the invaded country. The challenge is combining free trade and free movement of products (within the EU) with protection against invasive pests and pathogens. Public awareness may mobilise the public for prevention and detection of potential invasions and, simultaneously, increase support for eradication and control measures. We recommend focus on commodities in addition to pathways, an approach within the EU using a centralised response unit and, critically, to engage the general public in the battle against establishment and spread of these harmful pests and pathogens.
Participation in decision-making has successively developed into a guiding principle at both EU and national level. However, diverse perspectives exist on what the role of different interests in ...participative processes should be, and the legal rules regarding participation varies between different sectors; from clearly defined to virtually non-existent requirements. This may have adverse effects on the legitimacy of decisions and decision-making. This paper reviews the role of participation in the planning process in relation to natural resource development in Sweden, as guided by EU and international law. Based on the notion of effective participation, the study illustrates the potential clashes that may result from different conceptions of participation, for instance, at various levels of governance, as well as from disparate principles for implementation in different sectors.
Inverse internal conversion followed by recurrent fluorescence was observed as a fast decay (10 μs range) in the time profile of neutral yields from photo-excited C 4 − molecular ions. We also ...elucidated the contribution of such electronic radiative cooling to the C 4 − ions with internal energy far below the detachment threshold by an alternative novel approach, observing the laser wavelength and storage time dependence (ms range) of the total yield of the photo-induced neutrals.
Background Point mutations in PDE4D have been recently linked to acrodysostosis, an autosomal dominant disorder with skeletal dysplasia, severe brachydactyly, midfacial hypoplasia and intellectual ...disability. The purpose of the present study was to investigate clinical and cellular implications of different types of mutations in the PDE4D gene. Methods We studied five acrodysostosis patients and three patients with gene dose imbalances involving PDE4D clinically and by whole exome sequencing, Sanger sequencing and array comparative hybridisation. To evaluate the functional consequences of the PDE4D changes, we used overexpression of mutated human PDE4D message and morpholino-based suppression of pde4d in zebrafish. Results We identified three novel and two previously described PDE4D point mutations in the acrodysostosis patients and two deletions and one duplication involving PDE4D in three patients suffering from an intellectual disability syndrome with low body mass index, long fingers, toes and arms, prominent nose and small chin. When comparing symptoms in patients with missense mutations and gene dose imbalances involving PDE4D, a mirror phenotype was observed. By comparing overexpression of human mutated transcripts with pde4d knockdown in zebrafish embryos, we could successfully assay the pathogenicity of the mutations. Conclusions Our findings indicate that haploinsufficiency of PDE4D results in a novel intellectual disability syndrome, the 5q12.1-haploinsufficiency syndrome, with several opposing features compared with acrodysostosis that is caused by dominant negative mutations. In addition, our results expand the spectrum of PDE4D mutations underlying acrodysostosis and indicate that, in contrast to previous reports, patients with PDE4D mutations may have significant hormone resistance with consequent endocrine abnormalities.
Metal-on-polyethylene (MoP) articulations are one of the most reliable implanted hip prostheses. Unfortunately, long-term failure remains an obstacle to the service life. There is a lack of higher ...resolution research investigating the metallic surface component of MoP hip implants. This study investigates the surface and subsurface features of metallic cobalt chromium molybdenum alloy (CoCrMo) femoral head components from failed MoP retrievals. Unused prostheses were used for comparison to differentiate between wear-induced defects and imperfections incurred during implant manufacturing. The predominant scratch morphology observed on the non-implanted references was shallow and linear, whereas the scratches on the retrievals consisted of largely nonlinear, irregular scratches of varying depth (up to 150 nm in retrievals and up to 60 nm in reference samples). Characteristic hard phases were observed on the surface and subsurface material of the cast samples. Across all samples, a 100–400 nm thick nanocrystalline layer was visible in the immediate subsurface microstructure. Although observation of the nanocrystalline layer has been reported in metal-on-metal articulations, its presence in MoP retrievals and unimplanted prostheses has not been extensively examined. The results suggest that manufacturing-induced surface and subsurface microstructural features are present in MoP hip prostheses prior to implantation and naturally, these imperfections may influence the
in vivo
wear processes after implantation.
Total joint replacements currently have relatively high success rates at 10–15 years; however, increasing ageing and an active population places higher demands on the longevity of the implants. A ...wear resistant configuration with wear particles that resorb in vivo can potentially increase the lifetime of an implant. In this study, silicon nitride (SixNy) and silicon carbon nitride (SixCyNz) coatings were produced for this purpose using reactive high power impulse magnetron sputtering (HiPIMS). The coatings are intended for hard bearing surfaces on implants. Hardness and elastic modulus of the coatings were evaluated by nanoindentation, cohesive, and adhesive properties were assessed by micro-scratching and the tribological performance was investigated in a ball-on-disc setup run in a serum solution. The majority of the SixNy coatings showed a hardness close to that of sintered silicon nitride (∼18GPa), and an elastic modulus close to that of cobalt chromium (∼200GPa). Furthermore, all except one of the SixNy coatings offered a wear resistance similar to that of bulk silicon nitride and significantly higher than that of cobalt chromium. In contrast, the SixCyNz coatings did not show as high level of wear resistance.
Although chromosome 21 is the smallest human chromosome, it is highly relevant in the pathogenicity of both cancer and congenital diseases, including Alzheimer disease and trisomy 21 (Down syndrome). ...In addition, cases with rare structural variants (SVs) of chromosome 21 have been reported. These events vary in size and include large chromosomal events, such as ring chromosomes and small partial aneuploidies. The p-arm of the acrocentric chromosome 21 was devoid of reference genomic sequence in GRCh37 and GRCh38, which hampered our ability to solve genomic rearrangements and find the mechanism of formation of disease-causing SVs. We hypothesize that conserved satellite structures and segmental duplications located on the p-arm play an important role in the formation of complex SVs involving chromosome 21.
Three cases with complex chromosome 21 rearrangements were studied with a combination of short-read and long-read genome sequencing, as well as optical genome mapping. The data were aligned to the T2T-CHM13 assembly.
We were able to resolve all 3 complex chromosome 21 rearrangements in which 15, 8, and 26 breakpoints were identified, respectively. By comparing the identified SV breakpoints, we pinpointed a region between 21p13 and 21p12 that appears to be frequently involved in chromosome 21 rearrangements. Importantly, we observed acrocentric satellite DNA at several breakpoint junctions suggesting an important role for those elements in the formation of complex SVs.
Taken together, our results provide further insights into the architecture and underlying mechanisms of complex rearrangements on acrocentric chromosomes.
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