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- Antoniou, A. C., et al.
(författare)
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Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers : Implications for risk prediction
- 2010
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Ingår i: Cancer Research. - : American Association for Cancer Research. - 0008-5472 .- 1538-7445. ; 70:23, s. 9742-9754
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Tidskriftsartikel (refereegranskat)abstract
- The known breast cancer susceptibility polymorphisms in FGFR2, TNRC9/TOX3, MAP3K1, LSP1, and 2q35 confer increased risks of breast cancer for BRCA1 or BRCA2 mutation carriers. We evaluated the associations of 3 additional single nucleotide polymorphisms (SNPs), rs4973768 in SLC4A7/NEK10, rs6504950 in STXBP4/COX11, and rs10941679 at 5p12, and reanalyzed the previous associations using additional carriers in a sample of 12,525 BRCA1 and 7,409 BRCA2 carriers. Additionally, we investigated potential interactions between SNPs and assessed the implications for risk prediction. The minor alleles of rs4973768 and rs10941679 were associated with increased breast cancer risk for BRCA2 carriers (per-allele HR = 1.10, 95% CI: 1.03-1.18, P = 0.006 and HR = 1.09, 95% CI: 1.01-1.19, P = 0.03, respectively). Neither SNP was associated with breast cancer risk for BRCA1 carriers, and rs6504950 was not associated with breast cancer for either BRCA1 or BRCA2 carriers. Of the 9 polymorphisms investigated, 7 were associated with breast cancer for BRCA2 carriers (FGFR2, TOX3, MAP3K1, LSP1, 2q35, SLC4A7, 5p12, P = 7 × 10-11 - 0.03), but only TOX3 and 2q35 were associated with the risk for BRCA1 carriers (P = 0.0049, 0.03, respectively). All risk-associated polymorphisms appear to interact multiplicatively on breast cancer risk for mutation carriers. Based on the joint genotype distribution of the 7 risk-associated SNPs in BRCA2 mutation carriers, the 5% of BRCA2 carriers at highest risk (i.e., between 95th and 100th percentiles) were predicted to have a probability between 80% and 96% of developing breast cancer by age 80, compared with 42% to 50% for the 5% of carriers at lowest risk. Our findings indicated that these risk differences might be sufficient to influence the clinical management of mutation carriers.
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| 3. |
- Kaipainen, Aku L, et al.
(författare)
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Cerebrospinal fluid dynamics in idiopathic intracranial hypertension : a literature review and validation of contemporary findings
- 2021
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Ingår i: Acta Neurochirurgica. - : Springer. - 0001-6268 .- 0942-0940. ; 163:12, s. 3353-3368
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Tidskriftsartikel (refereegranskat)abstract
- Background: Idiopathic intracranial hypertension (IIH) is a rare disease of unknown aetiology related possibly to disturbed cerebrospinal fluid (CSF) dynamics and characterised by elevated intracranial pressure (ICP) causing optic nerve atrophy if not timely treated. We studied CSF dynamics of the IIH patients based on the available literature and our well-defined cohort.Method: A literature review was performed from PubMed between 1980 and 2020 in compliance with the PRISMA guideline. Our study includes 59 patients with clinical, demographical, neuro-ophthalmological, radiological, outcome data, and lumbar CSF pressure measurements for suspicion of IIH; 39 patients had verified IIH while 20 patients did not according to Friedman’s criteria, hence referred to as symptomatic controls.Results: The literature review yielded 19 suitable studies; 452 IIH patients and 264 controls had undergone intraventricular or lumbar CSF pressure measurements. In our study, the mean CSF pressure, pulse amplitudes, power of respiratory waves (RESP), and the pressure constant (P0) were higher in IIH than symptomatic controls (p < 0.01). The mean CSF pressure was higher in IIH patients with psychiatric comorbidity than without (p < 0.05). In IIH patients without acetazolamide treatment, the RAP index and power of slow waves were also higher (p < 0.05). IIH patients with excess CSF around the optic nerves had lower relative pulse pressure coefficient (RPPC) and RESP than those without (p < 0.05).Conclusions: Our literature review revealed increased CSF pressure, resistance to CSF outflow and sagittal sinus pressure (SSP) as key findings in IIH. Our study confirmed significantly higher lumbar CSF pressure and increased CSF pressure waves and RAP index in IIH when excluding patients with acetazolamide treatment. In overall, the findings reflect decreased craniospinal compliance and potentially depleted cerebral autoregulation resulting from the increased CSF pressure in IIH. The increased slow waves in patients without acetazolamide may indicate issues in autoregulation, while increased P0 could reflect the increased SSP.
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| 5. |
- Rantala, Eeva, et al.
(författare)
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Acceptability of workplace choice architecture modification for healthy behaviours
- 2023
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Ingår i: BMC Public Health. - : BioMed Central (BMC). - 1471-2458. ; 23:1
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Tidskriftsartikel (refereegranskat)abstract
- Background: Altering the choice architecture of decision contexts can assist behaviour change, but the acceptability of this approach has sparked debate. Considering hypothetical interventions, people generally welcome the approach for promoting health, but little evidence exists on acceptance in the real world. Furthermore, research has yet to explore the implementers’ perspective, acknowledging the multidimensionality of the acceptability construct. Addressing these knowledge gaps, this study evaluated the acceptability of a quasi-experimental implementation-effectiveness trial that modified the worksite choice architecture for healthy eating and daily physical activity.Methods: Fifty-three worksites participated in the 12-month intervention and implemented altogether 23 choice architecture strategies (Mdn 3/site), including point-of-choice prompts and changes to choice availability or accessibility. Retrospective acceptability evaluation built on deductive qualitative content analysis of implementer interviews (n = 65) and quantitative analysis of an employee questionnaire (n = 1124). Qualitative analysis examined implementers’ thoughts and observations of the intervention and its implementation, considering six domains of the Theoretical Framework of Acceptability: ethicality, affective attitude, burden, intervention coherence, opportunity costs, and perceived effectiveness. Quantitative analysis examined employees’ acceptance (7-point Likert scale) of eight specific intervention strategies using Friedman test and mixed-effects logistic regression.Results: Implementers considered the choice architecture approach ethical for workplace health promotion, reported mostly positive affective attitudes to and little burden because of the intervention. Intervention coherence supported acceptance through increased interest in implementation, whereas low perceived utility and high intensity of implementation reduced cost acceptance. Perceived effectiveness was mixed and varied along factors related to the implementer, social/physical work environment, employer, and employee. Employees showed overall high acceptance of evaluated strategies (Mdn 7, IQR 6.4–7), though strategies replacing unhealthy foods with healthier alternatives appeared less supported than providing information or enhancing healthy option availability or accessibility (p-values < 0.02). Greater proportion of male employees per site predicted lower overall acceptance (OR 4.4, 95% CI 1.2–16.5).Conclusions: Work communities appear to approve workplace choice architecture interventions for healthy eating and physical activity, but numerous factors influence acceptance and warrant consideration in future interventions. The study contributes with a theory-based, multidimensional evaluation that considered the perspectives of implementers and influenced individuals across heterogeneous real-world settings.
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