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Two major high-penetrance breast cancer genes, BRCA1 and BRCA2, are responsible for approximately 20% of hereditary breast cancer (HBC) cases in Finland. Additionally, rare mutations in several other genes that interact with BRCA1 and BRCA2 increase the risk of HBC. Still, a majority of HBC cases remain unexplained which is challenging for genetic counseling. We aimed to analyze additional mutatio
The prediction of transcription factor binding sites in genomic sequences is in principle very useful to identify upstream regulatory factors. However, when applying this concept to genomes of multicellular organisms such as mammals, one has to deal with a large number of false positive predictions since many transcription factor genes are only expressed in specific tissues or cell types. We devel
Integrated cross-sectoral impact assessments facilitate a comprehensive understanding of interdependencies and potential synergies, conflicts, and trade-offs between sectors under changing conditions. This paper presents a sensitivity analysis of a European integrated assessment model, the CLIMSAVE integrated assessment platform (IAP). The IAP incorporates important cross-sectoral linkages between
For decades, managers have analysed, planned and implemented long-term brand strategies based on customer mindset metrics (MSMs). Typically, such MSMs are customer satisfaction, liking, brand preference and Net Promoter Score (NPS). One of the core pillars, in brand management literature, is the assumed link between certain customer-based brand assets, often operationalized as MSMs, and future lon
To analyze visual outcomes after cataract surgery in patients with previous corneal refractive surgery.
Delayed gadolinium-enhanced MRI of cartilage is a technique for studying the development of osteoarthritis using quantitative T(1) measurements. Three-dimensional variable flip angle is a promising method for performing such measurements rapidly, by using two successive spoiled gradient echo sequences with different excitation pulse flip angles. However, the three-dimensional variable flip angle m
Whether risk factors for epithelial ovarian cancer (EOC) differ by subtype (i.e., dualistic pathway of carcinogenesis, histologic subtype) is not well understood; however, data to date suggest risk factor differences. We examined associations between reproductive and hormone-related risk factors for EOC by subtype in the European Prospective Investigation into Cancer and Nutrition (EPIC) cohort. A
INTRODUCTION: Snakebite accidents are an important health problem in rural areas of tropical countries worldwide, including Costa Rica, where most bites are caused by the pit-viper Bothrops asper. The treatment of these potentially fatal accidents is based on the timely administration of specific antivenom. In many regions of the world, insufficient health care systems and lack of antivenom in rem
The predominantly populated conformation of carbohydrates in solution does not necessarily represent the biologically active species; rather, any conformer accessible without too large an energy penalty may be present in a biological pathway. Thus, the conformational preferences of a naphthyl xyloside, which initiates in vivo synthesis of antiproliferative glycosaminoglycans, have been studied by
Rare-variant association studies in common, complex diseases are customarily conducted under an additive risk model in both single-variant and burden testing. Here, we describe a method to improve detection of rare recessive variants in complex diseases termed RAFT (recessive-allele-frequency-based test). We found that RAFT outperforms existing approaches when the variant influences disease risk i
A search has been performed for photons originating in the decay of a neutral long-lived particle, exploiting the capabilities of the ATLAS electromagnetic calorimeter to make precise measurements of the flight direction of photons, as well as the calorimeter's excellent time resolution. The search has been made in the diphoton plus missing transverse energy final state, using the full data sample
Background: Reference values for working capacity, blood pressure, heart rate, perceived exertion, etc. during bicycle exercise tests have been sought after for many years. This is because earlier commonly used reference values for physical work capacity have been either too low or too high when compared to the clinical experience of several Swedish departments of clinical physiology. The aim of t
This study analyzes (a) the relation between injury severities, the age of the bicyclist and the speed environment at accident locations (mean travel speed of the traffic flow involved in the accident) where a bicyclist was struck by a motorized vehicle and (b) how these relations differ from those for struck pedestrians. Accident data from Sweden for the years 2004-2008 was used to identify accid
A novel molecularly imprinted polymer (MIP) powder designed for the selective removal of interfering chlorophyll pigment from heavily pigmented green plant extracts during pesticide residue analysis or analysis for bioactives in natural product research is reported. The polymer powder imprinted with chlorophyll.. was synthesized by copolymerizing the functional and cross-linking monomers, methacry
In this study, characterization of the binding kinetics and optimization of a magnetic permeability based point-of-care (POC) immunoassay system for quantification of canine C-reactive protein (cCRP) is described. The reagent is based on a two-site heterogeneous immunoassay system utilizing conjugated superparamagnetic nanoparticles (SPION) and silica particles, both particles carrying covalently
Allogeneic haematopoietic stem-cell transplantation (HSCT) is frequently applied as part of the treatment in patients with acute myeloid leukaemia (AML) in their first or subsequent remission. Allogeneic HSCT reduces relapse, but nonrelapse mortality and morbidity might counterbalance this beneficial effect. Here, we review recent studies reporting new disease-specific prognostic markers, in addit
A typical feature of the boreal forest landscape is a gradient from dry to wet sites, with associated increases in the depth of the soil organic layers. In this study, the coupled ecosystem-soil biogeochemistry model GUESS-ROMUL is used to explore how the specific features of soil organic matter decomposition and vegetation dynamics account for an observed difference between the soils formed under
An important question in human genetics is the extent to which genes causing monogenic forms of disease harbor common variants that may contribute to the more typical form of that disease. We aimed to comprehensively evaluate the extent to which common variation irk the six known maturity-onset diabetes of the young (MODY) genes, which cause a monogenic form of type 2 diabetes, is associated with
Human factors certification criteria are being developed for large civil aircraft with the objective of reducing the incidence of design-induced error on the flight deck. Many formal error identification techniques currently exist which have been developed in nonaviation contexts but none have been validated for use to this end. This paper describes a new human error identification technique (HET
Catalytically active wire meshes were used to combust different pollutants present in flue gases from bio-fuel combustion, e.g. CO, propylene, terpenes and tar. Alumina was spray-deposited onto wire meshes of Kanthal AF (8-20 Tayler mesh) with a plasma spray equipment. The specific surface area of the ceramic layer was increased through wash coating, in-situ precipitation or sol-treatment. The cat
