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- Brage, Christina, et al.
(författare)
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The transition of academic information literacy into workplace information literacy : A challenge ahead
- 2012
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Ingår i: ICERI2012 Proceedings, 5th International Conference of Education, Research and Innovation, Madrid, Spain. 19-21 November, 2012. - Madrid : IATED. - 9788461607631 ; , s. 5642-5648
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Konferensbidrag (refereegranskat)abstract
- University students nowadays have become accustomed to digital resources provided by the academic library. But this normally ends after graduation when they enter the workforce and when they no longer have access to full text journals, research databases and other reference tools. Former students wish to rely upon the same resources they were using during their student days, resources that now are out of reach due to restricted access. To add to this problematic situation there is recognition in the literature that businesses must employ workers who know how to deal with information and use it for both personal and work success. But working life have different information practices for locating information that require a different set of standards for evaluating and effective use of information.
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| 2. |
- Eriksson, Mats Anders, et al.
(författare)
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Rare copy number variants are common in young children with autism spectrum disorder
- 2015
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Ingår i: Acta Paediatrica. - : Wiley. - 0803-5253 .- 1651-2227. ; 104:6, s. 610-618
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Tidskriftsartikel (refereegranskat)abstract
- AimSeveral studies have suggested that rare copy number variants (CNVs) are an important genetic contributor to autism spectrum disorders. The aims of the study were to use chromosomal microarray to investigate the presence of rare copy number variants in a population-based cohort of well-characterised young children with autism spectrum disorders and to relate the genetic results to neurodevelopmental profiles and medical conditions. MethodsWe performed chromosomal microarray on samples from 162 children who had been referred to the Stockholm Autism Centre for Young Children in Sweden after being diagnosed with autism spectrum disorder between 20 and 54months of age. ResultsPathogenic aberrations were detected in 8.6% of the children and variants of uncertain significance were present in another 8.6%. CNVs were more frequent in children with congenital malformations or dysmorphic features as well as in the subgroup with intellectual disability. ConclusionOur results support the use of chromosomal microarray methods for the first tier genetic analysis of autism spectrum disorder. However, it is likely in the near future that chromosomal microarray methods will probably be replaced by whole-exome and whole-genome sequencing technologies in clinical genetic testing.
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| 3. |
- Ran, Caroline, et al.
(författare)
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Glucocerebrosidase variant T369M is not a risk factor for Parkinson's disease in Sweden.
- 2022
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Ingår i: Neuroscience Letters. - : Elsevier. - 0304-3940 .- 1872-7972. ; 784
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Tidskriftsartikel (refereegranskat)abstract
- INTRODUCTION: Genetic variants in the Beta-glucocerebrosidase gene (GBA1) is a known risk factor for Parkinson's disease. The GBA1 mutations L444P, N370S and many other have been shown to associate with the disease in populations with diverse background. Some GBA1 polymorphisms have a less pronounced effect, and their pathogenicity has been debated. We have previously found associations with L444P, N370S and E326K and Parkinson's disease in Sweden.METHOD: In this study we used pyrosequencing to genotype the T369M variant in a large Swedish cohort consisting of 1,131 patients with idiopathic Parkinson's disease, and 1,594 control subjects to evaluate the possibility of this variant conferring an increased risk for Parkinson's disease.RESULTS: The minor allele frequency was 2.15% in patients and 1.76% in controls. Statistical analysis showed that there was no significant difference in allele frequency between patients and control subjects, p-value 0.37, Odds Ratio 1.23 with a 95% confidence interval of 0.82-1.83.CONCLUSION: Our results suggest that T369M is not a risk factor for Parkinson's disease in the Swedish population.
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