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- Arking, D. E., et al.
(författare)
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Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization
- 2014
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Ingår i: Nature Genetics. - : Nature Publishing Group. - 1061-4036 .- 1546-1718. ; 46:8, s. 826-836
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Tidskriftsartikel (refereegranskat)abstract
- The QT interval, an electrocardiographic measure reflecting myocardial repolarization, is a heritable trait. QT prolongation is a risk factor for ventricular arrhythmias and sudden cardiac death (SCD) and could indicate the presence of the potentially lethal mendelian long-QT syndrome (LQTS). Using a genome-wide association and replication study in up to 100,000 individuals, we identified 35 common variant loci associated with QT interval that collectively explain ∼ 8-10% of QT-interval variation and highlight the importance of calcium regulation in myocardial repolarization. Rare variant analysis of 6 new QT interval-associated loci in 298 unrelated probands with LQTS identified coding variants not found in controls but of uncertain causality and therefore requiring validation. Several newly identified loci encode proteins that physically interact with other recognized repolarization proteins. Our integration of common variant association, expression and orthogonal protein-protein interaction screens provides new insights into cardiac electrophysiology and identifies new candidate genes for ventricular arrhythmias, LQTS and SCD. © 2014 Nature America, Inc.
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| 4. |
- Mariscal-Arcas, M., et al.
(författare)
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Nutritional analysis of diet at base camp of a seven thousand-metre mountain in the Himalayas
- 2010
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Ingår i: Revista Andaluza de Medicina del Deporte. - : Elsevier. - 1888-7546. ; 3:4, s. 127-132
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Tidskriftsartikel (refereegranskat)abstract
- Objective: To evaluate the diet of a group of high-mountain climbers at 4,500 metres.Methods: A descriptive cross-sectional study was performed on the diet of a group of high-mountain climbers at their base camp (4,500 m).Results: The mean intake was 11.85 MJ/day (2,833 kcal/day), which provided an inadequate supply of energy and micronutrients to replenish deposits. Their mean carbohydrate intake (39.5%) was excessively low, since carbohydrate-rich diet favours acclimatization and the capacity for recovery. Their daily intake of 1.5-2.5 g/protein/kg of bodyweight was very similar to recommendations (1.5-2.0 g/kg/day).Conclusions: The climbers underwent a drastic change from their habitual Mediterranean diet, rich in monounsaturated fats (largely olive oil), to a diet rich in polyunsaturated fats (largely soy oil). The Sherpa-prepared diet on this expedition was not balanced. It was rich in saturated polyunsaturated fats and relatively poor in proteins and especially carbohydrates, similar to the traditional diet of climbers. Dietary strategies need to be developed to increase the intake of nutrients that favours the physical recovery of climbers and their altitude-acclimatization and to avoid micronutrient deficiencies.
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| 5. |
- Pachos, Jiannis K., et al.
(författare)
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Seeing Majorana fermions in time-of-flight images of staggered spinless fermions coupled by s-wave pairing
- 2013
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Ingår i: Physical Review A. Atomic, Molecular, and Optical Physics. - 1050-2947 .- 1094-1622. ; 88:1, s. 013622-
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Tidskriftsartikel (refereegranskat)abstract
- The Chern number., as a topological invariant that identifies the winding of the ground state in the particle-hole space, is a definitive theoretical signature that determines whether a given superconducting system can support Majorana zero modes. Here we show that such a winding can be faithfully identified for any superconducting system (p wave or s wave with spin-orbit coupling) through a set of time-of-flight measurements, making it a diagnostic tool also in actual cold-atom experiments. As an application, we customize the measurement scheme for a chiral topological model of spinless fermions. The proposed model only requires the experimentally accessible s-wave pairing and staggered tunneling that mimics spin-orbit coupling. By adiabatically connecting this model to Kitaev's honeycomb lattice model, we show that it gives rise to nu = +/- 1 phases, where vortices bind Majorana fermions, and nu = +/- 2 phases that emerge as the unique collective state of such vortices. Hence, the preparation of these phases and the detection of their Chern numbers provide an unambiguous signature for the presence of Majorana modes. Finally, we demonstrate that our detection procedure is resilient against most inaccuracies in experimental control parameters as well as finite temperature.
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