Genomics Quality Assessment has provided external quality assessments (EQAs) for preimplantation genetic testing (PGT) for 12 years for eight monogenic diseases to identify sub-optimal PGT strategies, testing and reporting of results, which can be shared with the genomics community to aid optimised standards of PGT services for couples.
Method
The EQAs were provided in two stages to mimic end-to-end protocols. Stage 1 involved DNA feasibility testing of a couple undergoing PGT and affected proband. Participants were required to report genotyping results and outline their embryo testing strategy. Lymphoblasts were distributed for mock embryo testing for stage 2. Submitted clinical reports and haplotyping results were assessed against peer-ratified criteria. Performance was monitored to identify poor performance.
Results
The most common testing methodology was short tandem repeat linkage analysis (59%); however, the adoption of single nucleotide polymorphism-based platforms was observed and a move from blastomere to trophectoderm testing. There was a variation in testing strategies, assigning marker informativity and understanding test limitations, some clinically unsafe. Critical errors were reported for genotyping and interpretation.
Conclusion
EQA provides an overview of the standard of preimplantation genetic testing-M clinical testing and identifies areas of improvement for accurate detection of high-risk embryos. 相似文献
Climate change is a global phenomenon that affects biophysical systems and human well-being. The Paris Agreement of the United Nations Framework Convention on Climate Change entered into force in 2016 with the objective of strengthening the global response to climate change by keeping global temperature rise this century well below 2 °C above pre-industrial levels and to pursue efforts to limit the temperature increase even further to 1.5 °C. The agreement requires all Parties to submit their “nationally determined contributions” (NDCs) and to strengthen these efforts in the years ahead. Reducing carbon emissions from deforestation and forest degradation is an important strategy for mitigating climate change, particularly in developing countries with large forests. Extensive tropical forest loss and degradation have increased awareness at the international level of the need to undertake large-scale ecological restoration, highlighting the need to identify cases in which restoration strategies can contribute to mitigation and adaptation. Here we consider Brazil as a case study to evaluate the benefits and challenges of implementing large-scale restoration programs in developing countries. The Brazilian NDC included the target of restoring and reforesting 12 million hectares of forests for multiple uses by 2030. Restoration of native vegetation is one of the foundations of sustainable rural development in Brazil and should consider multiple purposes, from biodiversity and ecosystem services conservation to social and economic development. However, ecological restoration still presents substantial challenges for tropical and mega-diverse countries, including the need to develop plans that are technically and financially feasible, as well as public policies and monitoring instruments that can assess effectiveness. The planning, execution, and monitoring of restoration efforts strongly depend on the context and the diagnosis of the area with respect to reference ecosystems (e.g., forests, savannas, grasslands, wetlands). In addition, poor integration of climate change policies at the national and subnational levels and with other sectorial policies constrains the large-scale implementation of restoration programs. The case of Brazil shows that slowing deforestation is possible; however, this analysis highlights the need for increased national commitment and international support for actions that require large-scale transformations of the forest sector regarding ecosystem restoration efforts. Scaling up the ambitions and actions of the Paris Agreement implies the need for a global framework that recognizes landscape restoration as a cost-effective nature-based solution and that supports countries in addressing their remaining needs, challenges, and barriers.
Mitigation and Adaptation Strategies for Global Change - Bioenergy with carbon dioxide (CO2) capture and storage (BECCS) technologies represent an interesting option to reach negative carbon... 相似文献
We thank B. Zentgraf for his basic and constructive ideas and his field support, R. Andi Abdoerrachman for logistic and technical support and E. Shimokawa, Kagoshima University, for providing a charcoal sample from Kutai National Park. We thank P. Becker-Heidmann, Isotope Dating Laboratory, University of Hamburg, for his immediate 14C-dating by Liquid Scintillation Counting, and Chr. Goedicke, Rathgen Research Laboratory, Staatliche Museen Preussischer Kulturbesitz Berlin, for immediate TL dating. M. A. Gill, C.S.I.R.O. Canberra, has critically reviewed this paper. This research was sponsored by the Volkswagen Foundation. 相似文献
The relationship between land-use induced changes in production ecology and avifauna diversity was analysed using a GIS land cover dataset on a 0.25 km × 0.25 km grid covering Austria's national territory. Considering only aboveground processes, the “human appropriation of net primary production” (HANPP = potential NPP − NPPt), actual NPP (NPPact), harvest (NPPh) and NPPt (= NPPact − harvest) were recalculated based on existing datasets. Elevation as well as indicators of land cover heterogeneity and landscape heterogeneity were also considered. Correlation analyses were performed between these potential determinants of avifauna diversity and breeding bird species richness data as well as the percentage of endangered breeding birds included in the Austrian red list. Four spatial scales—0.25 km × 0.25 km, 1 km × 1 km, 4 km × 4 km and 16 × 16 km, were analysed. It was shown that breeding bird species richness was more strongly correlated with production ecological indicators and elevation than with heterogeneity indicators. A residual analysis in which the effect of elevation (a proxy for climate) on species richness and its potential determinants was removed confirmed the importance of the availability of trophic energy (NPP) for bird diversity patterns. The results support the species-energy hypothesis, thus confirming the notion that HANPP could be a useful pressure indicator for biodiversity loss. 相似文献
Polyunsaturated fatty acids (PUFAs) exert several important functions across organ systems. During winter, hibernators divert PUFAs from oxidation, retaining them in their tissues and membranes, to ensure proper body functions at low body temperature. PUFAs are also precursors of eicosanoids with pro- and anti-inflammatory properties. This study investigated seasonal changes in eicosanoid metabolism of free-ranging brown bears (Ursus arctos). By using a lipidomic approach, we assessed (1) levels of specific omega-3 and omega-6 fatty acids involved in the eicosanoid cascade and (2) concentrations of eicosanoids in skeletal muscle and blood plasma of winter hibernating and summer active bears. We observed significant seasonal changes in the specific omega-3 and omega-6 precursors. We also found significant seasonal alterations of eicosanoid levels in both tissues. Concentrations of pro-inflammatory eicosanoids, such as thromboxane B2, 5-hydroxyeicosatetraenoic acid (HETE), and 15-HETE and 18-HETE, were significantly lower in muscle and/or plasma of hibernating bears compared to summer-active animals. Further, plasma and muscle levels of 5,6-epoxyeicosatrienoic acid (EET), as well as muscle concentration of 8,9-EET, tended to be lower in bears during winter hibernation vs. summer. We also found lower plasma levels of anti-inflammatory eicosanoids, such as 15dPGJ2 and PGE3, in bears during winter hibernation. Despite of the limited changes in omega-3 and omega-6 precursors, plasma and muscle concentrations of the products of all pathways decreased significantly, or remained unchanged, independent of their pro- or anti-inflammatory properties. These findings suggest that hibernation in bears is associated with a depressed state of the eicosanoid cascade. 相似文献