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Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study.

BRCA1 and BRCA2 screening in women at high-risk of breast cancer results in the identification of both unambiguously defined deleterious mutations and sequence variants of unknown clinical significance (VUS). We examined a population-based sample of young women with contralateral breast cancer (CBC, n=705) or unilateral breast cancer (UBC, n=1398). We identified 470 unique sequence variants, of wh

Lower educational level is a predictor of incident type 2 diabetes in European countries: The EPIC-InterAct study.

BACKGROUND: Type 2 diabetes mellitus (T2DM) is one of the most common chronic diseases worldwide. In high-income countries, low socioeconomic status seems to be related to a high incidence of T2DM, but very little is known about the intermediate factors of this relationship. METHOD: We performed a case-cohort study in eight Western European countries nested in the EPIC study (n = 340 234, 3.99

Two genetic pathways, t(1;10) and amplification of 3p11-12, in myxoinflammatory fibroblastic sarcoma, haemosiderotic fibrolipomatous tumour, and morphologically similar lesions.

Myxoinflammatory fibroblastic sarcoma (MIFS) is a low-grade malignant neoplasm for which limited genetic information, including a t(1;10)(p22;q24) and amplification of chromosome 3 material, is available. To further characterize these aberrations, we have investigated eight soft tissue sarcomas diagnosed as MIFS, haemosiderotic fibrolipomatous tumour (HFT), myxoid spindle cell/pleomorphic sarcoma

Glomerular filtration rate in patients with atrial fibrillation on warfarin treatment: A subgroup analysis from the AURICULA registry in Sweden.

INTRODUCTION: Numerous associations between chronic kidney disease (CKD) and atrial fibrillation (AF) have been reported and patients with CKD on anticoagulation therapy have an increased risk of bleeding. Currently, new anticoagulant agents are emerging in clinical practice, some of which are excreted by the kidneys. The proportion of AF patients on anticoagulant treatment with reduced renal func

Pathogenic or not? And if so, then how? Studying the effects of missense mutations using bioinformatics methods.

Many gene defects are relatively easy to identify experimentally, but obtaining information about the effects of sequence variations and elucidation of the detailed molecular mechanisms of genetic diseases will be among the next major efforts in mutation research. Amino acid substitutions may have diverse effects on protein structure and function; thus, a detailed analysis of the mutations is esse

Shopping as leisure: An exploration of manifoldness and dynamics in consumers shopping experiences

In retailing literature, shopping as a leisure-time enjoyment has typically been examined by the use of economic or psychological approaches. Consumers engaged in this activity have commonly been portrayed as one homogenous segment. Drawing upon a sociocultural approach, this study seeks to improve our understanding of leisure shopping as subjectively experienced. The article illustrates that leis

Effects of an active accelerator pedal on driver behaviour and traffic safety after long-term use in urban areas

The long-term effects of the active accelerator pedal were evaluated in the city of Lund in 2000 and 2001. The system, installed in 284 vehicles, produced a counterforce in the accelerator pedal at the speed limit. It could, however be overridden by pressing the accelerator pedal harder. The results showed that test drivers’ compliance with the speed limits improved considerably. Reduction in aver

On the dependence of the laser-induced incandescence (LII) signal on soot volume fraction for variations in particle size

“The laser-induced incandescence (LII) signal is proportional to soot volume fraction” is an often used statement in scientific papers, and it has – within experimental uncertainties – been validated in comparisons with other diagnostic techniques in several investigations. In 1984 it was shown theoretically in a paper by Melton that there is a deviation from this statement in that the presence of

Neurophysiology of a left-edge boundary tone using natural and edited F0

The ERP effects of left-edge, sentence-medial boundary tones in East Swedish were examined using synthesized and non-synthesized F0. The perception of the boundary tone gave rise to an N100 effect, reflecting automated processing of the acoustic features of the stimuli, a broadly distributed P200 effect, similar to what has earlier been seen for sentence-initial pitch accents, and an expectancy ne

TRPA1

The transient receptor potential ankyrin subtype 1 protein (TRPA1) is a nonselective cation channel permeable to Ca(2+), Na(+), and K(+). TRPA1 is a promiscuous chemical nocisensor that is also involved in noxious cold and mechanical sensation. It is present in a subpopulation of Aδ- and C-fiber nociceptive sensory neurons as well as in other sensory cells including epithelial cells. In primary se

Whole blood plasmapheresis using acoustic separation chips

An acoustic separation system for producing pure blood plasma is presented. The separated plasma contains less than 1 % red blood cells from the original hematocrit of 40 %. A sequential separation system consisting of four separators is demonstrated.

Exercise for breast cancer survivors: bridging the gap between evidence and practice

Evidence supporting the benefits of exercise following the diagnosis of breast cancer is overwhelming and compelling. Exercise reduces the severity and number of treatment-related side effects, optimizes quality of life during and following treatment, and may optimize survival. Yet, exercise does not uniformly form part of the standards of care provided to women following a breast cancer diagnosis

Magnetic losses in composite materials

We discuss some of the problems involved in homogenization of a composite material built from ferromagnetic inclusions in a nonmagnetic background material. The small signal permeability for a ferromagnetic spherical particle is combined with a homogenization formula to give an effective permeability for the composite material. The composite material inherits the gyrotropic structure and resonant

Identification of clinical phenotypes in knee osteoarthritis : a systematic review of the literature

Background: Knee Osteoarthritis (KOA) is a heterogeneous pathology characterized by a complex and multifactorial nature. It has been hypothesised that these differences are due to the existence of underlying phenotypes representing different mechanisms of the disease. Methods: The aim of this study is to identify the current evidence for the existence of groups of variables which point towards the