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- Antoniou, Antonis C., et al.
(författare)
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Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers
- 2011
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Ingår i: Human Molecular Genetics. - : Oxford University Press (OUP). - 0964-6906 .- 1460-2083. ; 20:16, s. 3304-3321
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Tidskriftsartikel (refereegranskat)abstract
- Two single nucleotide polymorphisms (SNPs) at 6q25.1, near the ESR1 gene, have been implicated in the susceptibility to breast cancer for Asian (rs2046210) and European women (rs9397435). A genome-wide association study in Europeans identified two further breast cancer susceptibility variants: rs11249433 at 1p11.2 and rs999737 in RAD51L1 at 14q24.1. Although previously identified breast cancer susceptibility variants have been shown to be associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers, the involvement of these SNPs to breast cancer susceptibility in mutation carriers is currently unknown. To address this, we genotyped these SNPs in BRCA1 and BRCA2 mutation carriers from 42 studies from the Consortium of Investigators of Modifiers of BRCA1/2. In the analysis of 14 123 BRCA1 and 8053 BRCA2 mutation carriers of European ancestry, the 6q25.1 SNPs (r(2) = 0.14) were independently associated with the risk of breast cancer for BRCA1 mutation carriers [ hazard ratio (HR) = 1.17, 95% confidence interval (CI): 1.11-1.23, P-trend = 4.5 x 10(-9) for rs2046210; HR = 1.28, 95% CI: 1.18-1.40, P-trend = 1.3 x 10(-8) for rs9397435], but only rs9397435 was associated with the risk for BRCA2 carriers (HR = 1.14, 95% CI: 1.01-1.28, P-trend = 0.031). SNP rs11249433 (1p11.2) was associated with the risk of breast cancer for BRCA2 mutation carriers (HR = 1.09, 95% CI: 1.02-1.17, P-trend = 0.015), but was not associated with breast cancer risk for BRCA1 mutation carriers (HR = 0.97, 95% CI: 0.92-1.02, P-trend = 0.20). SNP rs999737 (RAD51L1) was not associated with breast cancer risk for either BRCA1 or BRCA2 mutation carriers (P-trend = 0.27 and 0.30, respectively). The identification of SNPs at 6q25.1 associated with breast cancer risk for BRCA1 mutation carriers will lead to a better understanding of the biology of tumour development in these women.
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- Richard, JC, et al.
(författare)
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Respective effects of end-expiratory and end-inspiratory pressures on alveolar recruitment in acute lung injury
- 2003
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Ingår i: Critical Care Medicine. - 1530-0293. ; 31:1, s. 89-92
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Tidskriftsartikel (refereegranskat)abstract
- Objective. A low tidal volume can induce alveolar derecruitment in patients with acute lung injury. This study was undertaken to evaluate whether this resulted mainly from the decrease in tidal volume per se or from the reduction in end-inspiratory plateau pressure and whether there is any benefit in raising the level of positive end-expiratory pressure (PEEP) while plateau pressure is kept constant. Design: Prospective crossover study. Setting: Medical intensive care unit of a university teaching hospital. Patients: Fifteen adult patients ventilated for acute lung injury (PaO2/FIO2, 158 +/- 34 mm Hg; lung injury score, 2.7 +/- 0.6). Interventions: Three combinations were tested: PEEP at the lower inflection point with 6 mL/kg tidal volume, PEEP at the lower inflection point with 10 mL/kg tidal volume, and high PEEP with tidal volume at 6 mL/kg, keeping the plateau pressure similar to the preceding condition. Measurements and Main Results: Pressure-volume curves at zero PEEP and at set PEEP were recorded, and recruitment was calculated as the volume difference between both curves for pressures ranging from 15 to 30 cm H2O. Arterial blood gases were measured for all patients. For a similar PEEP at the lower inflection point (10 +/- 3 cm H2O), tidal volume reduction (10 to 6 mL/kg) led to a significant derecruitment. A low tidal volume (6 mL/kg) with high PEEP (14 +/- 3 cm H2O), however, induced a significantly greater recruitment and a higher PaO2 than the two other strategies. Conclusion. At a given plateau pressure (i.e., similar end-inspiratory distension), lowering tidal volume and increasing PEEP increase recruitment and PaO2.
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- Wollmer, Per, et al.
(författare)
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Relation between lung function, exercise capacity, and exposure to asbestos cement
- 1987
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Ingår i: British Journal of Industrial Medicine. - 0007-1072. ; 44:8, s. 542-549
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Tidskriftsartikel (refereegranskat)abstract
- A group of 137 male workers with known exposure (mean 20 fibre years per millilitre) to asbestos cement who had symptoms or signs of pulmonary disease was studied together with a reference group of 49 healthy industrial workers with no exposure to asbestos. Lung function measurements were made at rest and during exercise. Evidence of lung fibrosis was found as well as of obstructive airways disease in the exposed group compared with the reference group. Asbestos cement exposure was related to variables reflecting lung fibrosis but not to variables reflecting airflow obstruction. Smoking was related to variables reflecting obstructive lung disease. Exercise capacity was reduced in the exposed workers and was related to smoking and to lung function variables, reflecting obstructive airways disease. There was no significant correlation between exercise capacity and exposure to asbestos cement.
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- Axelsson, L., et al.
(författare)
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Study of the unbound nucleus 11N by elastic resonance scattering
- 1996
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Ingår i: Physical Review C (Nuclear Physics). - 0556-2813 .- 2469-9985 .- 2469-9993. ; 54:4, s. 1511-1514
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Tidskriftsartikel (refereegranskat)abstract
- Resonances in the unbound nucleus 11N have been studied, using the resonance scattering reaction 10C+p. The data give evidence for three states above the 10C+p threshold with energies 1.30, 2.04, and 3.72 MeV. These states can be interpreted, in a potential-model analysis, as the ground state and the first two excited states with spin-parity 1 / 2+, 1 / 2-, and 5 / 2+ arising from the shell-model orbitals 1s1 / 2, 0p1 / 2, and 0d5 / 2. A narrow state superposed on a broad structure found at higher energy could be interpreted as the mirror state of the 3 / 2- in 11Be shifted down in energy. This shift would suggest a large radius of the potential.
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- Bergmann, U.C., et al.
(författare)
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On the b-decay of 9C
- 2001
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Ingår i: Nuclear Physics A. ; 692:3-4, s. 427-450
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Tidskriftsartikel (refereegranskat)abstract
- In β-decay experiments on 9C at CERN/ISOLDE the β-strength was determined to the ground state, the 12.2 MeV excited state and the Isobaric Analog State (IAS) at 14.655 MeV in 9B. A large β-strength asymmetry is deduced for the mirror transitions of 9C and 9Li to states around 12 MeV excitation energy. A satisfactory description of the three-body decay from a narrow energy region around the 12.2 MeV resonance is obtained within a sequential model involving the ground and first-excited states of 5Li and 8Be. From the study of angular correlations the spin of the 12.2 MeV state is determined as 5/2−. For the first time the population of the IAS is observed in β-decay and new information on the decay of this state is obtained. The advantages of a closely packed, highly segmented detector setup are demonstrated.
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