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- Glasbey, JC, et al.
(författare)
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- 2021
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swepub:Mat__t
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| 5. |
- Dork, T, et al.
(författare)
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Two truncating variants in FANCC and breast cancer risk
- 2019
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Ingår i: Scientific reports. - : Springer Science and Business Media LLC. - 2045-2322. ; 9:1, s. 12524-
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Tidskriftsartikel (refereegranskat)abstract
- Fanconi anemia (FA) is a genetically heterogeneous disorder with 22 disease-causing genes reported to date. In some FA genes, monoallelic mutations have been found to be associated with breast cancer risk, while the risk associations of others remain unknown. The gene for FA type C, FANCC, has been proposed as a breast cancer susceptibility gene based on epidemiological and sequencing studies. We used the Oncoarray project to genotype two truncating FANCC variants (p.R185X and p.R548X) in 64,760 breast cancer cases and 49,793 controls of European descent. FANCC mutations were observed in 25 cases (14 with p.R185X, 11 with p.R548X) and 26 controls (18 with p.R185X, 8 with p.R548X). There was no evidence of an association with the risk of breast cancer, neither overall (odds ratio 0.77, 95%CI 0.44–1.33, p = 0.4) nor by histology, hormone receptor status, age or family history. We conclude that the breast cancer risk association of these two FANCC variants, if any, is much smaller than for BRCA1, BRCA2 or PALB2 mutations. If this applies to all truncating variants in FANCC it would suggest there are differences between FA genes in their roles on breast cancer risk and demonstrates the merit of large consortia for clarifying risk associations of rare variants.
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| 8. |
- Edlmann, E, et al.
(författare)
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Dex-CSDH randomised, placebo-controlled trial of dexamethasone for chronic subdural haematoma: report of the internal pilot phase
- 2019
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Ingår i: Scientific reports. - : Springer Science and Business Media LLC. - 2045-2322. ; 9:1, s. 5885-
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Tidskriftsartikel (refereegranskat)abstract
- The Dex-CSDH trial is a randomised, double-blind, placebo-controlled trial of dexamethasone for patients with a symptomatic chronic subdural haematoma. The trial commenced with an internal pilot, whose primary objective was to assess the feasibility of multi-centre recruitment. Primary outcome data collection and safety were also assessed, whilst maintaining blinding. We aimed to recruit 100 patients from United Kingdom Neurosurgical Units within 12 months. Trial participants were randomised to a 2-week course of dexamethasone or placebo in addition to receiving standard care (which could include surgery). The primary outcome measure of the trial is the modified Rankin Scale at 6 months. This pilot recruited ahead of target; 100 patients were recruited within nine months of commencement. 47% of screened patients consented to recruitment. The primary outcome measure was collected in 98% of patients. No safety concerns were raised by the independent data monitoring and ethics committee and only five patients were withdrawn from drug treatment. Pilot trial data can inform on the design and resource provision for substantive trials. This internal pilot was successful in determining recruitment feasibility. Excellent follow-up rates were achieved and exploratory outcome measures were added to increase the scientific value of the trial.
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| 10. |
- Al-Tammemi, A. B., et al.
(författare)
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A qualitative exploration of university students' perspectives on distance education in Jordan: An application of Moore's theory of transactional distance
- 2022
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Ingår i: Frontiers in Education. - : Frontiers Media SA. - 2504-284X. ; 7
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Tidskriftsartikel (refereegranskat)abstract
- The current study aimed at exploring university students' perspectives on the emergency distance education strategy that was implemented during the COVID-19 crisis in Jordan, one of the countries in the Eastern Mediterranean Region. Utilizing a qualitative design supported by Moore's theory of transactional distance, a total of 17 semi-structured interviews were conducted with university students of various study levels and disciplines. Data were inductively analyzed using thematic analysis as suggested by Braun and Clarke. Seven themes have emerged, including, (i) students' psychological response to the sudden transition in educational process, (ii) students' digital preparedness, equality, and digital communication, (iii) students' and teachers' technical competencies and technostress, (iv) student-student and student-teacher interpersonal communication, (v) quality and quantity of learning materials, (vi) students' assignments, examinations, and non-reliable evaluation methods, and (vii) opportunities with positive impact of distance learning. The study findings provide evidence that the sudden transition from traditional on-campus to online distance education was significantly challenging in many aspects and was not a pleasant experience for many participants. Various factors under the jurisdiction of academic institutions and decision-makers are considered main contributing factors to the students' educational experiences amid the pandemic crisis. Therefore, better planning and more sustainable utilization of educational resources have paramount importance in providing a high-quality education. Additionally, more dedicated efforts in terms of equitable, reliable, and credible evaluation systems should be considered in Jordan's distance education strategy.
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