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Sökning: WFRF:(Gustavsson Sofia) > (2015-2019)

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  • Boud, David, et al. (författare)
  • Observing interprofessional simulation
  • 2019
  • Ingår i: Interprofessional Simulation in Health Care. - Cham : Springer. - 9783030195410 - 9783030195427 ; , s. 115-137
  • Bokkapitel (refereegranskat)abstract
    • This chapter has a particular focus on the observers’ role in simulation-based learning activities. Simulation-based learning is often organised so that participants rotates between active participation in the scenario and participation as observers. The research examples provided show that the conditions for learning are related to the locations where and the ways the observers are situated, and to how the instructions to the observers are formulated. Arguments are put forward that the observers’ role in simulation has unexploited potential for developing skills of noticing.
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  • Gustafsson, Sofia, et al. (författare)
  • Blood-Brain Barrier Integrity in a Mouse Model of Alzheimer’s Disease With or Without Acute 3D6 Immunotherapy
  • 2018
  • Ingår i: Neuropharmacology. - : Elsevier BV. - 0028-3908 .- 1873-7064. ; 143, s. 1-9
  • Tidskriftsartikel (refereegranskat)abstract
    • The blood-brain barrier (BBB) is suggested to be compromised in Alzheimer's disease (AD). The concomitant presence of vascular amyloid beta (AD) pathology, so called cerebral amyloid angiopathy (CAA), also predisposes impairment of vessel integrity. Additionally, immunotherapy against A beta may lead to further damage of the BBB. To what extent this affects the BBB passage of molecules is debated. The current study aimed to investigate BBB integrity to large molecules in transgenic mice displaying abundant A beta pathology and age matched wild type animals, with or without acute anti-A beta antibody treatment. Animals were administered a single i.v. injection of PBS or 3D6 (10 mg/kg), i.e. the murine version of the clinically investigated A beta antibody bapineuzumab, supplemented with [(125)]3D6. Three days post injections, a 4 kDa FITC and a 150 kDa Antonia Red dextran were administered i.v. to all animals. After termination, fluorescent detection in brain and serum was used for the calculation of dextran brain-to-blood concentration ratios. Further characterization of antibody fate and the presence of CAA were investigated using radioactivity measurements and Congo red staining. BBB passage of large molecules was equally low in wild type and transgenic mice, suggesting an intact BBB despite A beta pathology. Neither was the BBB integrity affected by acute 3D6 treatment. However, CAA was confirmed in the transgenes and local antibody accumulations were observed in the brain, indicating CAA-antibody interactions. The current study shows that independently of A beta pathology or acute 3D6 treatment, the BBB is intact, without extensive permeability to large molecules, including the 3D6 antibody.
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4.
  • Karrbom Gustavsson, Tina, 1973-, et al. (författare)
  • Procurement Research: Current State and Future Challenges in the Nordic Countries
  • 2019
  • Ingår i: 10th Nordic Conference on Construction Economics and Organization (Emerald Reach Proceedings Series, Volume 2). - : Emerald Group Publishing Limited. ; 2, s. 195-204
  • Konferensbidrag (refereegranskat)abstract
    • PurposeThe purpose of the study is to map previous and current construction procurement research to further develop the research in the Nordic counties.Design/Methodology/ApproachMapping of previous and current research based on search in national database. The analysis is based on research perspectives, empirical contexts and research methods.FindingsThat the blind spots are partly overlapping, but that there is potential for knowledge transfer in some areas. There is also the potential for a Nordic research program on one or several of the blind spots.Research Limitations/ImplicationsThe study is limited to PhD and licentiate-thesis reports in Norway and Sweden. Further research should include the other Nordic countries and a more extensive literature review including journal articles to broaden the scope. Findings have implications on collaborative Nordic research initiatives, knowledge transfer and in a longer perspective on the level of procurement knowledge in industry and society.Practical ImplicationsFindings provide a base for future research collaborations, initiatives and applications.Originality/ValueFindings provide a comprehensive understanding of construction procurement research in the Nordic countries, starting with Norway and Sweden. This understanding is needed for developing research collaborations and applications.
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5.
  • Lindstrand, Anna, et al. (författare)
  • From cytogenetics to cytogenomics : whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability
  • 2019
  • Ingår i: Genome Medicine. - : BMC. - 1756-994X. ; 11:1
  • Tidskriftsartikel (refereegranskat)abstract
    • BackgroundSince different types of genetic variants, from single nucleotide variants (SNVs) to large chromosomal rearrangements, underlie intellectual disability, we evaluated the use of whole-genome sequencing (WGS) rather than chromosomal microarray analysis (CMA) as a first-line genetic diagnostic test.MethodsWe analyzed three cohorts with short-read WGS: (i) a retrospective cohort with validated copy number variants (CNVs) (cohort 1, n=68), (ii) individuals referred for monogenic multi-gene panels (cohort 2, n=156), and (iii) 100 prospective, consecutive cases referred to our center for CMA (cohort 3). Bioinformatic tools developed include FindSV, SVDB, Rhocall, Rhoviz, and vcf2cytosure.ResultsFirst, we validated our structural variant (SV)-calling pipeline on cohort 1, consisting of three trisomies and 79 deletions and duplications with a median size of 850kb (min 500bp, max 155Mb). All variants were detected. Second, we utilized the same pipeline in cohort 2 and analyzed with monogenic WGS panels, increasing the diagnostic yield to 8%. Next, cohort 3 was analyzed by both CMA and WGS. The WGS data was processed for large (>10kb) SVs genome-wide and for exonic SVs and SNVs in a panel of 887 genes linked to intellectual disability as well as genes matched to patient-specific Human Phenotype Ontology (HPO) phenotypes. This yielded a total of 25 pathogenic variants (SNVs or SVs), of which 12 were detected by CMA as well. We also applied short tandem repeat (STR) expansion detection and discovered one pathologic expansion in ATXN7. Finally, a case of Prader-Willi syndrome with uniparental disomy (UPD) was validated in the WGS data.Important positional information was obtained in all cohorts. Remarkably, 7% of the analyzed cases harbored complex structural variants, as exemplified by a ring chromosome and two duplications found to be an insertional translocation and part of a cryptic unbalanced translocation, respectively.ConclusionThe overall diagnostic rate of 27% was more than doubled compared to clinical microarray (12%). Using WGS, we detected a wide range of SVs with high accuracy. Since the WGS data also allowed for analysis of SNVs, UPD, and STRs, it represents a powerful comprehensive genetic test in a clinical diagnostic laboratory setting.
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