| 161. |
- Nilsson, Maria, et al.
(författare)
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Self-Disorders in Asperger Syndrome Compared to Schizotypal Disorder : A Clinical Study
- 2020
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Ingår i: Schizophrenia Bulletin. - : Oxford University Press (OUP). - 1745-1701 .- 0586-7614. ; 46:1, s. 121-129
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVE: There are historical and theoretical indications of a difference in subjective experience between autism spectrum disorder (ASD) and the schizophrenia spectrum. However, this difference has not been empirically explored. Therefore, to explore potential differences in subjective experience between the 2 spectra, we examined the presence/absence of self-disorders in Asperger syndrome/autism spectrum disorder (As/ASD) compared to schizotypal disorder (Sd). Self-disorders represent changes in basic self-awareness which have been found to accumulate within the schizophrenia spectrum. METHODS: All participants were recruited from clinical units and interviewed with a focus on the exploration of presence/absence of self-disorders, with the Examination of Anomalous Self-Experience (EASE) scale, and a general assessment of present psychopathology, with Schedules for Clinical Assessment in Neuropsychiatry (SCAN). RESULTS: A total of 51 participants (As/ASD, n = 22; Sd, n = 29) were included in the statistical analyses. When controlling for age, gender, years of education, mental problems before the age of 16, and special needs school attendance, there was a clear difference in presence/absence of self-disorders between the 2 groups, with significantly higher levels in the Sd group. Further, there was an overlap in SCAN-rated symptoms between the 2 groups. CONCLUSION: Our results indicate a significant difference between As/ASD and Sd at the level of the basic self, which, in turn, indicates that an exploration of anomalous self-experience is a valuable supplement in the clinical differentiation between As/ASD and Sd.
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| 162. |
- Nordal, E., et al.
(författare)
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Participation in school and physical education in juvenile idiopathic arthritis in a Nordic long-term cohort study
- 2019
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Ingår i: Pediatric Rheumatology. - : Springer Science and Business Media LLC. - 1546-0096. ; 17
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Tidskriftsartikel (refereegranskat)abstract
- BackgroundThe aim of the study was to describe school attendance and participation in physical education in school among children with juvenile idiopathic arthritis (JIA).MethodsConsecutive cases of JIA from defined geographical areas of Finland, Sweden and Norway with disease onset in 1997 to 2000 were followed for 8 years in a multi-center cohort study, aimed to be as close to population-based as possible. Clinical characteristics and information on school attendance and participation in physical education (PE) were registered.ResultsParticipation in school and in PE was lowest initially and increased during the disease course. Eight years after disease onset 228/274 (83.2%) of the children reported no school absence due to JIA, while 16.8% reported absence during the last 2 months due to JIA. Full participation in PE was reported by 194/242 (80.2%), partly by 16.9%, and none by 2.9%. Lowest participation in PE was found among children with ERA and the undifferentiated categories. Absence in school and PE was associated with higher disease activity measures at the 8-year visit. School absence >1day at baseline predicted use of disease-modifying anti-rheumatic drugs, including biologics (DMARDs) (OR 1.2 (1.1-1.5)), and non-remission off medication (OR 1.4 (1.1-1.7) 8 years after disease onset.ConclusionSchool absence at baseline predicted adverse long-term outcome. In children and adolescents with JIA participation in school activities is mostly high after 8years of disease. For the minority with low participation, special attention is warranted to promote their full potential of social interaction and improve long-term outcome.
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| 163. |
- Oddsson, Asmundur, et al.
(författare)
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Deficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethality
- 2023
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Ingår i: Nature Communications. - : Springer Nature. - 2041-1723. ; 14:1
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Tidskriftsartikel (refereegranskat)abstract
- Genotypes causing pregnancy loss and perinatal mortality are depleted among living individuals and are therefore difficult to find. To explore genetic causes of recessive lethality, we searched for sequence variants with deficit of homozygosity among 1.52 million individuals from six European populations. In this study, we identified 25 genes harboring protein-altering sequence variants with a strong deficit of homozygosity (10% or less of predicted homozygotes). Sequence variants in 12 of the genes cause Mendelian disease under a recessive mode of inheritance, two under a dominant mode, but variants in the remaining 11 have not been reported to cause disease. Sequence variants with a strong deficit of homozygosity are over-represented among genes essential for growth of human cell lines and genes orthologous to mouse genes known to affect viability. The function of these genes gives insight into the genetics of intrauterine lethality. We also identified 1077 genes with homozygous predicted loss-of-function genotypes not previously described, bringing the total set of genes completely knocked out in humans to 4785.
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| 164. |
- Ohlson, Sten, et al.
(författare)
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Toward high-throughput drug screening on a chip-based parallell affinity separation platform
- 2010
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Ingår i: Journal of Separation Science. - : Wiley. - 1615-9306 .- 1615-9314. ; 33:17-18, s. 2575-2581
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Tidskriftsartikel (refereegranskat)abstract
- High-throughput screening of compound libraries, including the study of fragments, has become one of the cornerstones in modern drug discovery research. During this process hits are defined that may be developed into valuable leads and eventually into possible drug candidates. In this paper, we have demonstrated that parallel zonal weak affinity chromatography in microcolumns on a chip offers a possible screening format for weakly binding ligands toward a protein target. We used albumin as a model system because this transport protein is well established as a binder (both weak and strong) for drug substances. Bovine serum albumin was immobilized on microparticulate diolsilica particles and then packed into a 24-channel cartridge, which served as the separation platform. Analysis of the obtained chromatograms yielded information about affinity even in the millimolar range. Employing this approach, thousands of substances can be screened in just a day. We feel confident that zonal affinity chromatography will provide a useful technology in the future for performing high-throughput screening.
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| 165. |
- Osorio, Ana, et al.
(författare)
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DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in BRCA1 and BRCA2 Mutation Carriers.
- 2014
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Ingår i: PLoS Genetics. - : Public Library of Science (PLoS). - 1553-7404. ; 10:4
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Tidskriftsartikel (refereegranskat)abstract
- Single Nucleotide Polymorphisms (SNPs) in genes involved in the DNA Base Excision Repair (BER) pathway could be associated with cancer risk in carriers of mutations in the high-penetrance susceptibility genes BRCA1 and BRCA2, given the relation of synthetic lethality that exists between one of the components of the BER pathway, PARP1 (poly ADP ribose polymerase), and both BRCA1 and BRCA2. In the present study, we have performed a comprehensive analysis of 18 genes involved in BER using a tagging SNP approach in a large series of BRCA1 and BRCA2 mutation carriers. 144 SNPs were analyzed in a two stage study involving 23,463 carriers from the CIMBA consortium (the Consortium of Investigators of Modifiers of BRCA1 and BRCA2). Eleven SNPs showed evidence of association with breast and/or ovarian cancer at p<0.05 in the combined analysis. Four of the five genes for which strongest evidence of association was observed were DNA glycosylases. The strongest evidence was for rs1466785 in the NEIL2 (endonuclease VIII-like 2) gene (HR: 1.09, 95% CI (1.03-1.16), p = 2.7×10-3) for association with breast cancer risk in BRCA2 mutation carriers, and rs2304277 in the OGG1 (8-guanine DNA glycosylase) gene, with ovarian cancer risk in BRCA1 mutation carriers (HR: 1.12 95%CI: 1.03-1.21, p = 4.8×10-3). DNA glycosylases involved in the first steps of the BER pathway may be associated with cancer risk in BRCA1/2 mutation carriers and should be more comprehensively studied.
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| 166. |
- Patel, Riyaz S., et al.
(författare)
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Subsequent Event Risk in Individuals With Established Coronary Heart Disease : Design and Rationale of the GENIUS-CHD Consortium
- 2019
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Ingår i: Circulation. - 2574-8300. ; 12:4
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: The Genetics of Subsequent Coronary Heart Disease (GENIUS-CHD) consortium was established to facilitate discovery and validation of genetic variants and biomarkers for risk of subsequent CHD events, in individuals with established CHD.METHODS: The consortium currently includes 57 studies from 18 countries, recruiting 185 614 participants with either acute coronary syndrome, stable CHD, or a mixture of both at baseline. All studies collected biological samples and followed-up study participants prospectively for subsequent events.RESULTS: Enrollment into the individual studies took place between 1985 to present day with a duration of follow-up ranging from 9 months to 15 years. Within each study, participants with CHD are predominantly of self-reported European descent (38%-100%), mostly male (44%-91%) with mean ages at recruitment ranging from 40 to 75 years. Initial feasibility analyses, using a federated analysis approach, yielded expected associations between age (hazard ratio, 1.15; 95% CI, 1.14-1.16) per 5-year increase, male sex (hazard ratio, 1.17; 95% CI, 1.13-1.21) and smoking (hazard ratio, 1.43; 95% CI, 1.35-1.51) with risk of subsequent CHD death or myocardial infarction and differing associations with other individual and composite cardiovascular endpoints.CONCLUSIONS: GENIUS-CHD is a global collaboration seeking to elucidate genetic and nongenetic determinants of subsequent event risk in individuals with established CHD, to improve residual risk prediction and identify novel drug targets for secondary prevention. Initial analyses demonstrate the feasibility and reliability of a federated analysis approach. The consortium now plans to initiate and test novel hypotheses as well as supporting replication and validation analyses for other investigators.
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| 167. |
- Pedersen, Anders F., et al.
(författare)
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Operando XAS Study of the Surface Oxidation State on a Monolayer IrOx, on RuOx and Ru Oxide Based Nanoparticles for Oxygen Evolution in Acidic Media
- 2018
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Ingår i: Journal of Physical Chemistry B. - : American Chemical Society (ACS). - 1520-6106 .- 1520-5207. ; 122:2, s. 878-887
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Tidskriftsartikel (refereegranskat)abstract
- Herein we present surface sensitive operando XAS L-edge measurements on IrOx/RuO2 thin films as well as mass-selected RuOx and Ru nanoparticles. We observed shifts of the white line XAS peak toward higher energies with applied electrochemical potential. Apart from the case of the metallic Ru nanoparticles, the observed potential dependencies were purely core-level shifts caused by a change in oxidation state, which indicates no structural changes. These findings can be explained by different binding energies of oxygenated species on the surface of IrOx and RuOx. Simulated XAS spectra show that the average Ir oxidation state change is strongly affected by the coverage of atomic O. The observed shifts in oxidation state suggest that the surface has a high coverage of O at potentials just below the potential where oxygen evolution is exergonic in free energy. This observation is consistent with the notion that the metal-oxygen bond is stronger than ideal.
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| 168. |
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| 169. |
- Pedersen, Birgitte Stougaard, et al.
(författare)
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Reading and the senses : cultural and technological perspectives
- 2022
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Ingår i: The Digital Reading Condition. - London : Routledge. - 9781032078120 - 9781032075761 - 9781003211662 ; , s. 59-67
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Bokkapitel (refereegranskat)abstract
- The concept of deep reading is defined as the application of higher-order thinking skills to the process of reading. It includes analogical skills, critical analysis, reflection, and insight. Deep reading is also often associated with particular media, primarily printed books, preferably certain kinds of literature. This chapter discusses some of the prevalent ideas surrounding notions of focused, critical and valued reading modes and how these are connected to media technologies, implicitly or explicitly. Some scholars, such as Nicholas Carr, have suggested that digital media in general and the kinds of distracted, quick, or hypertextual reading that the Internet provides in particular are detrimental to our ability to focus and engage deeply. Within media studies, however, research has pointed to other equally important aspects of engagement that must be redefined so as not to be inextricably linked to a particular medium or genre.
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| 170. |
- Pedersen, Christian, et al.
(författare)
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Nanoscale Size Control of Protein Aggregates
- 2013
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Ingår i: Small. - : John Wiley & Sons. - 1613-6810 .- 1613-6829. ; 9:19, s. 3320-3326
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Tidskriftsartikel (refereegranskat)abstract
- Herein, a novel method to synthesize soluble, sub-micrometer sized protein aggregates is demonstrated by mixing native and denatured proteins without using bacteria and contaminating proteins. Ovalbumin (OVA) is employed as a model protein. The average size of the formed aggregates can be controlled by adjusting the fraction of denatured protein in the sample and it is possible to make unimodal size distributions of protein aggregates. OVA aggregates with a size of ∼95 nm are found to be more immunogenic compared to native OVA in a murine splenocyte proliferation assay. These results suggest that the novel method of engineering size specific sub-micrometer sized aggregates may constitute a potential route to increasing the efficacy of protein vaccines. The protein aggregates may also be promising for use in other applications including the surface functionalization of biomaterials and as industrial catalysis materials.
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