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- Thompson, B.A., et al.
(författare)
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Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database
- 2014
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 46:2, s. 107-115
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Tidskriftsartikel (refereegranskat)abstract
- The clinical classification of hereditary sequence variants identified in disease-related genes directly affects clinical management of patients and their relatives. The International Society for Gastrointestinal Hereditary Tumours (InSiGHT) undertook a collaborative effort to develop, test and apply a standardized classification scheme to constitutional variants in the Lynch syndrome-associated genes MLH1, MSH2, MSH6 and PMS2. Unpublished data submission was encouraged to assist in variant classification and was recognized through microattribution. The scheme was refined by multidisciplinary expert committee review of the clinical and functional data available for variants, applied to 2,360 sequence alterations, and disseminated online. Assessment using validated criteria altered classifications for 66% of 12,006 database entries. Clinical recommendations based on transparent evaluation are now possible for 1,370 variants that were not obviously protein truncating from nomenclature. This large-scale endeavor will facilitate the consistent management of families suspected to have Lynch syndrome and demonstrates the value of multidisciplinary collaboration in the curation and classification of variants in public locus-specific databases. © 2014 Nature America, Inc.
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- Bartels-Rausch, T., et al.
(författare)
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A review of air-ice chemical and physical interactions (AICI): Liquids, quasi-liquids, and solids in snow
- 2014
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Ingår i: Atmospheric Chemistry And Physics. - : Copernicus GmbH. - 1680-7316 .- 1680-7324. ; 14:3, s. 1587-1633
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Tidskriftsartikel (refereegranskat)abstract
- Snow in the environment acts as a host to rich chemistry and provides a matrix for physical exchange of contaminants within the ecosystem. The goal of this review is to summarise the current state of knowledge of physical processes and chemical reactivity in surface snow with relevance to polar regions. It focuses on a description of impurities in distinct compartments present in surface snow, such as snow crystals, grain boundaries, crystal surfaces, and liquid parts. It emphasises the microscopic description of the ice surface and its link with the environment. Distinct differences between the disordered air-ice interface, often termed quasi-liquid layer, and a liquid phase are highlighted. The reactivity in these different compartments of surface snow is discussed using many experimental studies, simulations, and selected snow models from the molecular to the macro-scale. Although new experimental techniques have extended our knowledge of the surface properties of ice and their impact on some single reactions and processes, others occurring on, at or within snow grains remain unquantified. The presence of liquid or liquid-like compartments either due to the formation of brine or disorder at surfaces of snow crystals below the freezing point may strongly modify reaction rates. Therefore, future experiments should include a detailed characterisation of the surface properties of the ice matrices. A further point that remains largely unresolved is the distribution of impurities between the different domains of the condensed phase inside the snowpack, i.e. in the bulk solid, in liquid at the surface or trapped in confined pockets within or between grains, or at the surface. While surface-sensitive laboratory techniques may in the future help to resolve this point for equilibrium conditions, additional uncertainty for the environmental snowpack may be caused by the highly dynamic nature of the snowpack due to the fast metamorphism occurring under certain environmental conditions. Due to these gaps in knowledge the first snow chemistry models have attempted to reproduce certain processes like the long-term incorporation of volatile compounds in snow and firn or the release of reactive species from the snowpack. Although so far none of the models offers a coupled approach of physical and chemical processes or a detailed representation of the different compartments, they have successfully been used to reproduce some field experiments. A fully coupled snow chemistry and physics model remains to be developed. © Author(s) 2014.
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- Berg, J, et al.
(författare)
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Health-related quality of life and long-term morbidity and mortality in patients hospitalised with systolic heart failure
- 2014
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Ingår i: JRSM cardiovascular disease. - : SAGE Publications. - 2048-0040. ; 3, s. 2048004014548735-
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Tidskriftsartikel (refereegranskat)abstract
- Health-related quality of life has been shown to impact prognosis in chronic heart failure, however with limited long-term follow-up. We analysed data spanning 8–12 years to assess the impact of health-related quality of life using the Nottingham Health Profile on first hospitalisation and mortality, for cardiovascular and all causes. Methods We included 208 patients aged ≥60 years with New York Heart Association class II–IV and left ventricular systolic dysfunction hospitalised in Stockholm during 1996–99. Data on hospital admissions, discharge diagnoses and date and cause of death were collected from administrative databases and medical records until 2007. Cox proportional hazard models were employed to analyse the time to event for mortality and hospitalisations. Results Mean age was 76 years, 58% were male and mean ejection fraction was 34%. Median survival was 4.6 years (range 6 days–11.9 years); 148 patients died. All-cause and cardiovascular mortality were determined by physical mobility (by Nottingham Health Profile), age, gender, diuretic dose and haemoglobin level. Glomerular filtration rate was significant for all-cause mortality, while atrioventricular plane displacement was predictive of cardiovascular mortality. Median time to first all-cause and cardiovascular hospitalisation was 5.7 and 11.2 months, respectively. Time to first all-cause hospitalisation was determined by physical mobility, emotional reactions, age, gender and haemoglobin level, while only physical mobility and diuretic dose predicted time to first cardiovascular hospitalisation. Conclusions In conclusion, in patients with systolic chronic heart failure, physical mobility as part of health-related quality of life is an independent prognostic marker for cardiovascular and all-cause readmissions and mortality over 12 years.
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