35 research outputs found

    Children and Young People’s Participation in the Community in Ireland: Experiences and Issues

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    This paper presents the findings of research into children and young people’s experiences of participating in their communities in Ireland. Using a social and relational understanding of participation, the research found that children and young people are engaged in a wide range of activities in their communities. They are however often misunderstood in the community and have limited opportunities for participation in decisions affecting them. Despite these problems, they report positive experiences of participating in youth clubs and organisations, where their participation is supported by adults. The paper discusses the implications of these findings for research, public policy and community

    Log odds of carrying an Ancestral Mutation in BRCA1 or BRCA2 for a Defined personal and family history in an Ashkenazi Jewish woman (LAMBDA)

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    INTRODUCTION: Ancestral mutations in BRCA1 and BRCA2 are common in people of Ashkenazi Jewish descent and are associated with a substantially increased risk of breast and ovarian cancer. Women considering mutation testing usually have several personal and family cancer characteristics, so predicting mutation status from one factor alone could be misleading. The aim of this study was to develop a simple algorithm to estimate the probability that an Ashkenazi Jewish woman carries an ancestral mutation, based on multiple predictive factors. METHODS: We studied Ashkenazi Jewish women with a personal or family history of breast or ovarian cancer and living in Melbourne or Sydney, Australia, or with a previous diagnosis of breast or ovarian cancer and living in the UK. DNA samples were tested for the germline mutations 185delAG and 5382insC in BRCA1, and 6174delT in BRCA2. Logistic regression was used to identify, and to estimate the predictive strength of, major determinants. RESULTS: A mutation was detected in 64 of 424 women. An algorithm was developed by combining our findings with those from similar analyses of a large study of unaffected Jewish women in Washington. Starting with a baseline score, a multiple of 0.5 (based on the logistic regression estimates) is added for each predictive feature. The sum is the estimated log odds ratio that a woman is a carrier, and is converted to a probability by using a table. There was good internal consistency. CONCLUSIONS: This simple algorithm might be useful in the clinical and genetic counselling setting. Comparison and validation in other settings should be sought

    Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer.

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    To identify common alleles associated with different histotypes of epithelial ovarian cancer (EOC), we pooled data from multiple genome-wide genotyping projects totaling 25,509 EOC cases and 40,941 controls. We identified nine new susceptibility loci for different EOC histotypes: six for serous EOC histotypes (3q28, 4q32.3, 8q21.11, 10q24.33, 18q11.2 and 22q12.1), two for mucinous EOC (3q22.3 and 9q31.1) and one for endometrioid EOC (5q12.3). We then performed meta-analysis on the results for high-grade serous ovarian cancer with the results from analysis of 31,448 BRCA1 and BRCA2 mutation carriers, including 3,887 mutation carriers with EOC. This identified three additional susceptibility loci at 2q13, 8q24.1 and 12q24.31. Integrated analyses of genes and regulatory biofeatures at each locus predicted candidate susceptibility genes, including OBFC1, a new candidate susceptibility gene for low-grade and borderline serous EOC

    Genomic reconstruction of the SARS-CoV-2 epidemic in England.

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    The evolution of the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) virus leads to new variants that warrant timely epidemiological characterization. Here we use the dense genomic surveillance data generated by the COVID-19 Genomics UK Consortium to reconstruct the dynamics of 71 different lineages in each of 315 English local authorities between September 2020 and June 2021. This analysis reveals a series of subepidemics that peaked in early autumn 2020, followed by a jump in transmissibility of the B.1.1.7/Alpha lineage. The Alpha variant grew when other lineages declined during the second national lockdown and regionally tiered restrictions between November and December 2020. A third more stringent national lockdown suppressed the Alpha variant and eliminated nearly all other lineages in early 2021. Yet a series of variants (most of which contained the spike E484K mutation) defied these trends and persisted at moderately increasing proportions. However, by accounting for sustained introductions, we found that the transmissibility of these variants is unlikely to have exceeded the transmissibility of the Alpha variant. Finally, B.1.617.2/Delta was repeatedly introduced in England and grew rapidly in early summer 2021, constituting approximately 98% of sampled SARS-CoV-2 genomes on 26 June 2021

    Differences in discounting behavior and brain responses for food and money reward

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    Most neuroeconomic research seeks to understand how value influences decision-making. The influence of reward type is less well understood. We used functional magnetic resonance imaging (fMRI) to investigate delay discounting of primary (i.e., food) and secondary rewards (i.e., money) in 28 healthy, normal-weighted participants (mean age = 26.77; 18 females). To decipher differences in discounting behavior between reward types, we compared how well-different option-based statistical models (exponential, hyperbolic discounting) and attribute-wise heuristic choice models (intertemporal choice heuristic, dual reasoning and implicit framework theory, trade-off model) captured the reward-specific discounting behavior. Contrary to our hypothesis of different strategies for different rewards, we observed comparable discounting behavior for money and food (i.e., exponential discounting). Higher k\it k values for food discounting suggest that individuals decide more impulsive if confronted with food. The fMRI revealed that money discounting was associated with enhanced activity in the right dorsolateral prefrontal cortex, involved in executive control; the right dorsal striatum, associated with reward processing; and the left hippocampus, involved in memory encoding/retrieval. Food discounting, instead, was associated with higher activity in the left temporoparietal junction suggesting social reinforcement of food decisions. Although our findings do not confirm our hypothesis of different discounting strategies for different reward types, they are in line with the notion that reward types have a significant influence on impulsivity with primary rewards leading to more impulsive choices

    Efficiency of compaction and compositional convection during mafic crystal mush solidification: the Sept Iles layered intrusion, Canada

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    Adcumulate formation in mafic layered intrusions is attributed either to gravity-driven compaction, which expels the intercumulus melt out of the crystal matrix, or to compositional convection, which maintains the intercumulus liquid at a constant composition through liquid exchange with the main magma body. These processes are length-scale and time-scale dependent, and application of experimentally derived theoretical formulations to magma chambers is not straightforward. New data from the Sept Iles layered intrusion are presented and constrain the relative efficiency of these processes during solidification of the mafic crystal mush. Troctolites with meso- to ortho-cumulate texture are stratigraphically followed by Fe–Ti oxide-bearing gabbros with adcumulate texture. Calculations of intercumulus liquid fractions based on whole-rock P, Zr, V and Cr contents and detailed plagioclase compositional profiles show that both compaction and compositional convection operate, but their efficiency changes with liquid differentiation. Before saturation of Fe–Ti oxides in the intercumulus liquid, convection is not active due to the stable liquid density distribution within the crystal mush. At this stage, compaction and minor intercumulus liquid crystallization reduce the porosity to 30%. The velocity of liquid expulsion is then too slow compared with the rate of crystal accumulation. Compositional convection starts at Fe–Ti oxide-saturation in the pore melt due to its decreasing density. This process occurs together with crystallization of the intercumulus melt until the residual porosity is less than 10%. Compositional convection is evidenced by external plagioclase rims buffered at An 61 owing to continuous exchange between the intercumulus melt and the main liquid body. The change from a channel flow regime that dominates in troctolites to a porous flow regime in gabbros results from the increasing efficiency of compaction with differentiation due to higher density contrast between the cumulus crystal matrix and the equilibrium melts and to the bottom-up decreasing rate of crystal accumulation in the magma chamber

    A knowledgebase system to enhance scientific discovery: Telemakus

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    Background: With the rapid expansion of scientific research, the ability to effectively find or integrate new domain knowledge in the sciences is proving increasingly difficult. Efforts to improve and speed up scientific discovery are being explored on a number of fronts. However, much of this work is based on traditional search and retrieval approaches and the bibliographic citation presentation format remains unchanged. Methods: Case study. Results: The Telemakus KnowledgeBase System provides flexible new tools for creating knowledgebases to facilitate retrieval and review of scientific research reports. In formalizing the representation of the research methods and results of scientific reports, Telemakus offers a potential strategy to enhance the scientific discovery process. While other research has demonstrated that aggregating and analyzing research findings across domains augments knowledge discovery, the Telemakus system is unique in combining document surrogates with interactive concept maps of linked relationships across groups of research reports. Conclusion: Based on how scientists conduct research and read the literature, the Telemakus KnowledgeBase System brings together three innovations in analyzing, displaying and summarizing research reports across a domain: (1) research report schema, a document surrogate of extracted research methods and findings presented in a consistent and structured schema format which mimics the research process itself and provides a high-level surrogate to facilitate searching and rapid review of retrieved documents; (2) research findings, used to index the documents, allowing searchers to request, for example, research studies which have studied the relationship between neoplasms and vitamin E; and (3) visual exploration interface of linked relationships for interactive querying of research findings across the knowledgebase and graphical displays of what is known as well as, through gaps in the map, what is yet to be tested. The rationale and system architecture are described and plans for the future are discussed.We gratefully acknowledge funding provided by the Ellison Medical Foundation and the assistance provided by its Executive Director, Dr. Richard Sprott
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