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Sökning: WFRF:(Smith Raffaella)

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1.
  • 2019
  • Tidskriftsartikel (refereegranskat)
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2.
  • Agnello, Danielle Marie, et al. (författare)
  • Establishing a Health CASCADE-Curated Open-Access Database to Consolidate Knowledge About Co-Creation : Novel Artificial Intelligence-Assisted Methodology Based on Systematic Reviews
  • 2023
  • Ingår i: Journal of Medical Internet Research. - : JMIR Publications Inc.. - 1438-8871. ; 25
  • Forskningsöversikt (refereegranskat)abstract
    • BACKGROUND: Co-creation is an approach that aims to democratize research and bridge the gap between research and practice, but the potential fragmentation of knowledge about co-creation has hindered progress. A comprehensive database of published literature from multidisciplinary sources can address this fragmentation through the integration of diverse perspectives, identification and dissemination of best practices, and increase clarity about co-creation. However, two considerable challenges exist. First, there is uncertainty about co-creation terminology, making it difficult to identify relevant literature. Second, the exponential growth of scientific publications has led to an overwhelming amount of literature that surpasses the human capacity for a comprehensive review. These challenges hinder progress in co-creation research and underscore the need for a novel methodology to consolidate and investigate the literature.OBJECTIVE: This study aimed to synthesize knowledge about co-creation across various fields through the development and application of an artificial intelligence (AI)-assisted selection process. The ultimate goal of this database was to provide stakeholders interested in co-creation with relevant literature.METHODS: We created a novel methodology for establishing a curated database. To accommodate the variation in terminology, we used a broad definition of co-creation that encompassed the essence of existing definitions. To filter out irrelevant information, an AI-assisted selection process was used. In addition, we conducted bibliometric analyses and quality control procedures to assess content and accuracy. Overall, this approach allowed us to develop a robust and reliable database that serves as a valuable resource for stakeholders interested in co-creation.RESULTS: The final version of the database included 13,501 papers, which are indexed in Zenodo and accessible in an open-access downloadable format. The quality assessment revealed that 20.3% (140/688) of the database likely contained irrelevant material, whereas the methodology captured 91% (58/64) of the relevant literature. Participatory and variations of the term co-creation were the most frequent terms in the title and abstracts of included literature. The predominant source journals included health sciences, sustainability, environmental sciences, medical research, and health services research.CONCLUSIONS: This study produced a high-quality, open-access database about co-creation. The study demonstrates that it is possible to perform a systematic review selection process on a fragmented concept using human-AI collaboration. Our unified concept of co-creation includes the co-approaches (co-creation, co-design, and co-production), forms of participatory research, and user involvement. Our analysis of authorship, citations, and source landscape highlights the potential lack of collaboration among co-creation researchers and underscores the need for future investigation into the different research methodologies. The database provides a resource for relevant literature and can support rapid literature reviews about co-creation. It also offers clarity about the current co-creation landscape and helps to address barriers that researchers may face when seeking evidence about co-creation.
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3.
  • Andreoni, Igor, et al. (författare)
  • Target-of-opportunity Observations of Gravitational-wave Events with Vera C. Rubin Observatory
  • 2022
  • Ingår i: Astrophysical Journal Supplement Series. - : American Astronomical Society. - 0067-0049 .- 1538-4365. ; 260:1
  • Tidskriftsartikel (refereegranskat)abstract
    • The discovery of the electromagnetic counterpart to the binary neutron star (NS) merger GW170817 has opened the era of gravitational-wave multimessenger astronomy. Rapid identification of the optical/infrared kilonova enabled a precise localization of the source, which paved the way to deep multiwavelength follow-up and its myriad of related science results. Fully exploiting this new territory of exploration requires the acquisition of electromagnetic data from samples of NS mergers and other gravitational-wave sources. After GW170817, the frontier is now to map the diversity of kilonova properties and provide more stringent constraints on the Hubble constant, and enable new tests of fundamental physics. The Vera C. Rubin Observatory's Legacy Survey of Space and Time can play a key role in this field in the 2020s, when an improved network of gravitational-wave detectors is expected to reach a sensitivity that will enable the discovery of a high rate of merger events involving NSs (∼tens per year) out to distances of several hundred megaparsecs. We design comprehensive target-of-opportunity observing strategies for follow-up of gravitational-wave triggers that will make the Rubin Observatory the premier instrument for discovery and early characterization of NS and other compact-object mergers, and yet unknown classes of gravitational-wave events.
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4.
  • Anney, Richard, et al. (författare)
  • Individual common variants exert weak effects on the risk for autism spectrum disorders.
  • 2012
  • Ingår i: Human Molecular Genetics. - : Oxford University Press (OUP). - 0964-6906 .- 1460-2083. ; 21:21, s. 4781-92
  • Tidskriftsartikel (refereegranskat)abstract
    • While it is apparent that rare variation can play an important role in the genetic architecture of autism spectrum disorders (ASD), the contribution of common variation to ASD risk is less clear. To produce a more comprehensive picture, we report Stage 2 of the Autism Genome Project genome-wide association study, adding 1301 ASD families and bringing the total to 2705 families analysed (Stages 1 and 2). In addition to evaluating association of individual SNPs, we also sought evidence that common variants, en masse, might affect risk. Despite genotyping over a million SNPs covering the genome, no single SNP shows significant association with ASD or selected phenotypes at a genome-wide level. The SNP that achieves the smallest p-value from secondary analyses is rs1718101. It falls in CNTNAP2, a gene previously implicated in susceptibility for ASD. This SNP also shows modest association with age of word/phrase acquisition in ASD subjects, of interest because features of language development are also associated with other variation in CNTNAP2. By contrast, allele-scores derived from the transmission of common alleles to Stage 1 cases significantly predict case-status in the independent Stage 2 sample. Despite being significant, the variance explained by these allele scores was small (Vm< 1%). Based on results from individual SNPs and their en masse effect on risk, as inferred from the allele-score results, it is reasonable to conclude that common variants affect ASD risk but their individual effects are modest.
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5.
  • Bossini-Castillo, Lara, et al. (författare)
  • A replication study confirms the association of TNFSF4 (OX40L) polymorphisms with systemic sclerosis in a large European cohort
  • 2011
  • Ingår i: Annals of the Rheumatic Diseases. - : BMJ. - 1468-2060 .- 0003-4967. ; 70:4, s. 638-641
  • Tidskriftsartikel (refereegranskat)abstract
    • Objectives The aim of this study was to confirm the influence of TNFSF4 polymorphisms on systemic sclerosis (SSc) susceptibility and phenotypic features. Methods A total of 8 European populations of Caucasian ancestry were included, comprising 3014 patients with SSc and 3125 healthy controls. Four genetic variants of TNFSF4 gene promoter (rs1234314, rs844644, rs844648 and rs12039904) were selected as genetic markers. Results A pooled analysis revealed the association of rs1234314 and rs12039904 polymorphisms with SSc (OR 1.15, 95% CI 1.02 to 1.31; OR 1.18, 95% CI 1.08 to 1.29, respectively). Significant association of the four tested variants with patients with limited cutaneous SSc (lcSSc) was revealed (rs1234314 OR 1.22, 95% CI 1.07 to 1.38; rs844644 OR 0.91, 95% CI 0.83 to 0.99; rs844648 OR 1.10, 95% CI 1.01 to 1.20 and rs12039904 OR 1.20, 95% CI 1.09 to 1.33). Association of rs1234314, rs844648 and rs12039904 minor alleles with patients positive for anti-centromere antibodies (ACA) remained significant (OR 1.23, 95% CI 1.10 to 1.37; OR 1.12, 95% CI 1.01 to 1.25; OR 1.22, 95% CI 1.07 to 1.38, respectively). Haplotype analysis confirmed a protective haplotype associated with SSc, lcSSc and ACA positive subgroups (OR 0.88, 95% CI 0.82 to 0.96; OR 0.88, 95% CI 0.80 to 0.96; OR 0.86, 95% CI 0.77 to 0.97, respectively) and revealed a new risk haplotype associated with the same groups of patients (OR 1.14, 95% CI 1.03 to 1.26; OR 1.20, 95% CI 1.08 to 1.35; OR 1.23, 95% CI 1.07 to 1.42, respectively). Conclusions The data confirm the influence of TNFSF4 polymorphisms in SSc genetic susceptibility, especially in subsets of patients positive for lcSSc and ACA.
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6.
  • Bossini-Castillo, Lara, et al. (författare)
  • Confirmation of association of the macrophage migration inhibitory factor gene with systemic sclerosis in a large European population.
  • 2011
  • Ingår i: Rheumatology (Oxford, England). - : Oxford University Press (OUP). - 1462-0332 .- 1462-0324. ; 50, s. 1976-1981
  • Tidskriftsartikel (refereegranskat)abstract
    • Objectives. The aim of this study was to confirm the implication of macrophage migration inhibitory factor (MIF) gene in SSc susceptibility or clinical phenotypes in a large European population.Methods. A total of 3800 SSc patients and 4282 healthy controls of white Caucasian ancestry from eight different European countries were included in the study. The MIF -173 single nucleotide polymorphism (SNP) was selected as genetic marker and genotyped using Taqman 5' allelic discrimination assay.Results. The MIF -173 SNP showed association with SSc [P = 0.04, odds ratio (OR) = 1.10, 95% CI 1.00, 1.19]. Analysis of the MIF -173 polymorphism according to SSc clinical phenotype revealed that the frequency of the -173*C allele was significantly higher in the dcSSc group compared with controls (P = 5.30E-03, OR = 1.21, 95% CI 1.07, 1.38). Conversely, the frequency of the MIF -173*C allele was significantly underrepresented in the lcSSc group compared with dcSSc patients, supporting previous findings [(P = 0.04, OR = 0.86, 95% CI 0.75, 0.99); meta-analysis including previous results (P = 0.005, OR = 0.83, 95% CI 0.73, 0.94)].Conclusion. Our results confirm the role of MIF -173 promoter polymorphism in SSc, and provide evidence of a strong association with the dcSSc subgroup of patients. Hence, the MIF -173 variant is confirmed as a promising clinical phenotype genetic marker.
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7.
  • Fong, Wen-fai, et al. (författare)
  • Short GRB Host Galaxies. I. Photometric and Spectroscopic Catalogs, Host Associations, and Galactocentric Offsets
  • 2022
  • Ingår i: Astrophysical Journal. - : American Astronomical Society. - 0004-637X .- 1538-4357. ; 940:1
  • Tidskriftsartikel (refereegranskat)abstract
    • We present a comprehensive optical and near-infrared census of the fields of 90 short gamma-ray bursts (GRBs) discovered in 2005–2021, constituting all short GRBs for which host galaxy associations are feasible (≈60% of the total Swift short GRB population). We contribute 274 new multi-band imaging observations across 58 distinct GRBs and 26 spectra of their host galaxies. Supplemented by literature and archival survey data, the catalog contains 542 photometric and 42 spectroscopic data sets. The photometric catalog reaches 3σ depths of ≳24–27 mag and ≳23–26 mag for the optical and near-infrared bands, respectively. We identify host galaxies for 84 bursts, in which the most robust associations make up 56% (50/90) of events, while only a small fraction, 6.7%, have inconclusive host associations. Based on new spectroscopy, we determine 18 host spectroscopic redshifts with a range of z ≈ 0.15–1.5 and find that ≈23%–41% of Swift short GRBs originate from z > 1. We also present the galactocentric offset catalog for 84 short GRBs. Taking into account the large range of individual measurement uncertainties, we find a median of projected offset of ≈7.7 kpc, for which the bursts with the most robust associations have a smaller median of ≈4.8 kpc. Our catalog captures more high-redshift and low-luminosity hosts, and more highly offset bursts than previously found, thereby diversifying the population of known short GRB hosts and properties. In terms of locations and host luminosities, the populations of short GRBs with and without detectable extended emission are statistically indistinguishable. This suggests that they arise from the same progenitors, or from multiple progenitors, which form and evolve in similar environments. All of the data products are available on the Broadband Repository for Investigating Gamma-Ray Burst Host Traits website.
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8.
  • Fornaro, Michele, et al. (författare)
  • Homelessness and health-related outcomes : an umbrella review of observational studies and randomized controlled trials
  • 2022
  • Ingår i: BMC Medicine. - : BMC. - 1741-7015. ; 20:1
  • Forskningsöversikt (refereegranskat)abstract
    • Background Homelessness has been associated with multiple detrimental health outcomes across observational studies. However, relatively few randomized controlled trials (RCTs) have been conducted on people who experience homelessness (PEH). Thus, this umbrella review ranked the credibility of evidence derived from systematic reviews (SRs) and meta-analyses (MAs) of observational studies investigating the associations between homelessness and any health outcome as well as RCTs targeting health needs in this population. Methods Several databases were systematically searched from inception through April 28, 2021. Any SR and/or MA reporting quantitative data and providing a control group were eligible for inclusion. The credibility of the evidence derived from observational studies was appraised by considering the significance level of the association and the largest study, the degree of heterogeneity, the presence of small-study effects as well as excess significance bias. The credibility of evidence was then ranked in five classes. For SRs and/or MAs of RCTs, we considered the level of significance and whether the prediction interval crossed the null. The AMSTAR-2 and AMSTAR-plus instruments were adopted to further assess the methodological quality of SRs and/or MAs. The Newcastle-Ottawa Scale (NOS) was employed to further appraise the methodological quality of prospective cohort studies only; a sensitivity analysis limited to higher quality studies was conducted. Results Out of 1549 references, 8 MAs and 2 SRs were included. Among those considering observational studies, 23 unique associations were appraised. Twelve of them were statistically significant at the p <= 0.005 level. Included cases had worst health-related outcomes than controls, but only two associations reached a priori-defined criteria for convincing (class I) evidence namely hospitalization due to any cause among PEH diagnosed with HIV infection, and the occurrence of falls within the past year among PEH. According to the AMSTAR-2 instrument, the methodological quality of all included SRs and/or MAs was "critically low." Interventional studies were scant. Conclusion While homelessness has been repeatedly associated with detrimental health outcomes, only two associations met the criteria for convincing evidence. Furthermore, few RCTs were appraised by SRs and/or MAs. Our umbrella review also highlights the need to standardize definitions of homelessness to be incorporated by forthcoming studies to improve the external validity of the findings in this vulnerable population.
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9.
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10.
  • Gorlova, Olga, et al. (författare)
  • Identification of Novel Genetic Markers Associated with Clinical Phenotypes of Systemic Sclerosis through a Genome-Wide Association Strategy
  • 2011
  • Ingår i: PLoS Genetics. - : Public Library of Science (PLoS). - 1553-7404. ; 7:7
  • Tidskriftsartikel (refereegranskat)abstract
    • The aim of this study was to determine, through a genome-wide association study (GWAS), the genetic components contributing to different clinical sub-phenotypes of systemic sclerosis (SSc). We considered limited (IcSSc) and diffuse (dcSSc) cutaneous involvement, and the relationships with presence of the SSc-specific auto-antibodies, anti-centromere (ACA), and anti-topoisomerase I (ATA). Four GWAS cohorts, comprising 2,296 SSc patients and 5,171 healthy controls, were meta-analyzed looking for associations in the selected subgroups. Eighteen polymorphisms were further tested in nine independent cohorts comprising an additional 3,175 SSc patients and 4,971 controls. Conditional analysis for associated SNPs in the HLA region was performed to explore their independent association in antibody subgroups. Overall analysis showed that non-HLA polymorphism rs11642873 in IRF8 gene to be associated at GWAS level with lcSSc (P = 2.32x10(-12), OR = 0.75). Also, rs12540874 in GRB10 gene (P = 1.27 x 10(-6), OR = 1.15) and rs11047102 in SOX5 gene (P = 1.39x10(-7), OR = 1.36) showed a suggestive association with lcSSc and ACA subgroups respectively. In the HLA region, we observed highly associated allelic combinations in the HLA-DQB1 locus with ACA (P = 1.79x10(-61), OR = 2.48), in the HLA-DPA1/B1 loci with ATA (P = 4.57x10(-76), OR = 8.84), and in NOTCH4 with ACA P = 8.84x10(-21), OR = 0.55) and ATA (P = 1.14x10(-8), OR = 0.54). We have identified three new non-HLA genes (IRF8, GRB10, and SOX5) associated with SSc clinical and autoantibody subgroups. Within the HLA region, HLA-DQB1, HLA-DPA1/B1, and NOTCH4 associations with SSc are likely confined to specific auto-antibodies. These data emphasize the differential genetic components of subphenotypes of SSc.
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