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- Hollestelle, Antoinette, et al.
(författare)
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No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer
- 2016
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Ingår i: Gynecologic Oncology. - : Elsevier BV. - 0090-8258 .- 1095-6859. ; 141:2, s. 386-401
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Tidskriftsartikel (refereegranskat)abstract
- Objective Clinical genetic testing is commercially available for rs61764370, an inherited variant residing in a KRAS 3′ UTR microRNA binding site, based on suggested associations with increased ovarian and breast cancer risk as well as with survival time. However, prior studies, emphasizing particular subgroups, were relatively small. Therefore, we comprehensively evaluated ovarian and breast cancer risks as well as clinical outcome associated with rs61764370. Methods Centralized genotyping and analysis were performed for 140,012 women enrolled in the Ovarian Cancer Association Consortium (15,357 ovarian cancer patients; 30,816 controls), the Breast Cancer Association Consortium (33,530 breast cancer patients; 37,640 controls), and the Consortium of Modifiers of BRCA1 and BRCA2 (14,765 BRCA1 and 7904 BRCA2 mutation carriers). Results We found no association with risk of ovarian cancer (OR = 0.99, 95% CI 0.94-1.04, p = 0.74) or breast cancer (OR = 0.98, 95% CI 0.94-1.01, p = 0.19) and results were consistent among mutation carriers (BRCA1, ovarian cancer HR = 1.09, 95% CI 0.97-1.23, p = 0.14, breast cancer HR = 1.04, 95% CI 0.97-1.12, p = 0.27; BRCA2, ovarian cancer HR = 0.89, 95% CI 0.71-1.13, p = 0.34, breast cancer HR = 1.06, 95% CI 0.94-1.19, p = 0.35). Null results were also obtained for associations with overall survival following ovarian cancer (HR = 0.94, 95% CI 0.83-1.07, p = 0.38), breast cancer (HR = 0.96, 95% CI 0.87-1.06, p = 0.38), and all other previously-reported associations. Conclusions rs61764370 is not associated with risk of ovarian or breast cancer nor with clinical outcome for patients with these cancers. Therefore, genotyping this variant has no clinical utility related to the prediction or management of these cancers.
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- Ademuyiwa, Adesoji O., et al.
(författare)
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Determinants of morbidity and mortality following emergency abdominal surgery in children in low-income and middle-income countries
- 2016
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Ingår i: BMJ Global Health. - : BMJ Publishing Group Ltd. - 2059-7908. ; 1:4
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Tidskriftsartikel (refereegranskat)abstract
- Background: Child health is a key priority on the global health agenda, yet the provision of essential and emergency surgery in children is patchy in resource-poor regions. This study was aimed to determine the mortality risk for emergency abdominal paediatric surgery in low-income countries globally.Methods: Multicentre, international, prospective, cohort study. Self-selected surgical units performing emergency abdominal surgery submitted prespecified data for consecutive children aged <16 years during a 2-week period between July and December 2014. The United Nation's Human Development Index (HDI) was used to stratify countries. The main outcome measure was 30-day postoperative mortality, analysed by multilevel logistic regression.Results: This study included 1409 patients from 253 centres in 43 countries; 282 children were under 2 years of age. Among them, 265 (18.8%) were from low-HDI, 450 (31.9%) from middle-HDI and 694 (49.3%) from high-HDI countries. The most common operations performed were appendectomy, small bowel resection, pyloromyotomy and correction of intussusception. After adjustment for patient and hospital risk factors, child mortality at 30 days was significantly higher in low-HDI (adjusted OR 7.14 (95% CI 2.52 to 20.23), p<0.001) and middle-HDI (4.42 (1.44 to 13.56), p=0.009) countries compared with high-HDI countries, translating to 40 excess deaths per 1000 procedures performed.Conclusions: Adjusted mortality in children following emergency abdominal surgery may be as high as 7 times greater in low-HDI and middle-HDI countries compared with high-HDI countries. Effective provision of emergency essential surgery should be a key priority for global child health agendas.
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| 4. |
- Vogelezang, Suzanne, et al.
(författare)
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Novel loci for childhood body mass index and shared heritability with adult cardiometabolic traits.
- 2020
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Ingår i: PLoS genetics. - : Public Library of Science (PLoS). - 1553-7404. ; 16:10
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Tidskriftsartikel (refereegranskat)abstract
- The genetic background of childhood body mass index (BMI), and the extent to which the well-known associations of childhood BMI with adult diseases are explained by shared genetic factors, are largely unknown. We performed a genome-wide association study meta-analysis of BMI in 61,111 children aged between 2 and 10 years. Twenty-five independent loci reached genome-wide significance in the combined discovery and replication analyses. Two of these, located near NEDD4L and SLC45A3, have not previously been reported in relation to either childhood or adult BMI. Positive genetic correlations of childhood BMI with birth weight and adult BMI, waist-to-hip ratio, diastolic blood pressure and type 2 diabetes were detected (Rg ranging from 0.11 to 0.76, P-values <0.002). A negative genetic correlation of childhood BMI with age at menarche was observed. Our results suggest that the biological processes underlying childhood BMI largely, but not completely, overlap with those underlying adult BMI. The well-known observational associations of BMI in childhood with cardio-metabolic diseases in adulthood may reflect partial genetic overlap, but in light of previous evidence, it is also likely that they are explained through phenotypic continuity of BMI from childhood into adulthood.
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- Haraldsen, Heidi M. M., et al.
(författare)
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An exploration of reciprocity among teacher and students in female pre-professional ballet education : a shared reality theory perspective
- 2023
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Ingår i: Frontiers in Education. - : Frontiers Media S.A.. - 2504-284X. ; 8
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Tidskriftsartikel (refereegranskat)abstract
- The purpose of the present study was to explore perceptions of shared reality in teacher-student partnerships in ballet, and how these perceptions were related to experiences of quality in the relationship and well-being. A longitudinal qualitative study design was adopted, with three female ballet students and their teacher participating in three semi-structured interviews each over an eight-month period. Data were analyzed using a combination of thematic and narrative analysis. Findings indicated that across the teacher-student relationships there were perceptions of a shared reality only on the professional and distanced level and not on a relational and personal level. This was achieved by a common experience of what matters in the world of ballet education as well as students finding their teacher as trustworthy. Furthermore, it appeared that the authoritarian apprenticeship culture in ballet, where the teachers give clear instructions and feedback, and where the student role is to listen and adapt to the teacher's instructions, was a barrier to fully achieving a shared reality on a personal and deeper level. In turn, this influenced the quality of the relationship and the wellbeing of both teacher and students. The present study offers critical reflections on the cultural backdrop of teaching and learning in ballet and highlights the importance of teachers to facilitate a supportive, unconditional, and trustworthy relationship so that they can work together in a more productive manner.
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- Mårs, Tove, et al.
(författare)
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Understanding parental secure base support across youth sport contexts in Sweden
- 2024
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Ingår i: Psychology of Sport And Exercise. - : Elsevier. - 1469-0292 .- 1878-5476. ; 73
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Tidskriftsartikel (refereegranskat)abstract
- The notion of secure base explains how a child can grow and become independent through access to a significant other (i.e., parent) who is available, encouraging, and noninterfering. The purpose of the current study was to develop an understanding of parental secure base support within the context of youth sport in Sweden, with a specific focus on: (a) what parental behaviors constitute a secure base, and (b) how these behaviors differ across contexts (at home before and after sport, at practice and during competitions). An interpretive descriptive methodology (Thorne, 2016) was used. Interviews were conducted with 13 family triads (children aged 12-15 years) and 1 dyad living in Sweden. Analysis was conducted to illuminate associations, patterns, and relationships within the sample. Analysis led to the development of nine categories of parental behaviors that were perceived to underpin a secure base. Availability was seen to comprise physical presence and support provision, being responsive, and developing positive mental representations. Encouragement encompassed demonstrating that sport participation is valued, motivating to explore sporting endeavors, and reinforcing and rewarding persistence in sports. Interference was described as unrequested interference, requested interference, and intentionally constrained involvement. Additionally, influencing factors such as communication, family structure and culture, were identified. The findings provide an empirical illustration for several behaviors that have been perceived as positive in previous literature, as well as highlighting numerous further complexities, particularly as it relates to interference.
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| 7. |
- Yu, He, et al.
(författare)
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Palaeogenomic analysis of black rat (Rattus rattus) reveals multiple European introductions associated with human economic history
- 2022
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Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 13:1
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Tidskriftsartikel (refereegranskat)abstract
- The distribution of the black rat (Rattus rattus) has been heavily influenced by its association with humans. The dispersal history of this non-native commensal rodent across Europe, however, remains poorly understood, and different introductions may have occurred during the Roman and medieval periods. Here, in order to reconstruct the population history of European black rats, we first generate a de novo genome assembly of the black rat. We then sequence 67 ancient and three modern black rat mitogenomes, and 36 ancient and three modern nuclear genomes from archaeological sites spanning the 1st-17th centuries CE in Europe and North Africa. Analyses of our newly reported sequences, together with published mitochondrial DNA sequences, confirm that black rats were introduced into the Mediterranean and Europe from Southwest Asia. Genomic analyses of the ancient rats reveal a population turnover in temperate Europe between the 6th and 10th centuries CE, coincident with an archaeologically attested decline in the black rat population. The near disappearance and re-emergence of black rats in Europe may have been the result of the breakdown of the Roman Empire, the First Plague Pandemic, and/or post-Roman climatic cooling. 'Archaeogenetic analysis of black rat remains reveals that this species was introduced into temperate Europe twice, in the Roman and medieval periods. This population turnover was likely associated with multiple historical and environmental factors.'
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