Up to half of the heritability of age-related macular degeneration (AMD) is explained by common variants(1-5). Here, we report the identification of a rare, highly penetrant missense mutation in CFI encoding a p.Gly119Arg substitution that confers high risk of AMD (P = 3.79 x 10(-6); odds ratio (OR) = 22.20, 95% confidence interval (CI) = 2.98-164.49). Plasma and sera from cases carrying the p.Gly

Popular Abstract in Swedish Bröstcancer är den vanligaste cancerformen hos kvinnor i Sverige. Årligen drabbas 7000 kvinnor i Sverige och cirka 1500 kvinnor dör av sin sjukdom. Bröstcancer uppkommer genom ett samspel mellan livsstil, miljö och gener. En kvinna som har en förstagradssläkting (t.ex. syster, mor) med bröstcancer har ungefär dubbelt så stor risk att drabbas av bröstcancer jämfört med eApproximately 7000 women are diagnosed and 1500 women die from breast cancer in Sweden every year. The aim of this thesis was to study the interplay of polymorphisms, hormone levels, lifestyle, and the use of concomitant medication in relation to risk and prognosis in two cohorts: one composed of young healthy women from high-risk breast cancer families and the other of breast cancer patients fro

Context. The fraction of binary stars is an important ingredient to interpret globular cluster dynamical evolution and their stellar population. Aims. We investigate the properties of main-sequence binaries measured in a uniform photometric sample of 59 Galactic globular clusters that were observed by HST WFC/ACS as a part of the Globular Cluster Treasury project. Methods. We measured the fraction

The high-pressure homogenizer emulsification modelling framework by Håkansson et al. (2009a,Chemical Engineering Science 64, 2915–2925; 2009b. Food Hydrocolloids 23, 1177–1183), is further developed in this study. The model, including the simultaneous fragmentation of drops, coalescence of drops and kinetic adsorption of macromolecular emulsifiers, is improved with regard to two points.First, the

Inclusive production of D* mesons in deep-inelastic ep scattering at HERA is studied in the range 5 < Q(2) < 100 GeV2 of the photon virtuality and 0.02 < y < 0.7 of the inelasticity of the scattering process. The observed phase space for the D* meson is (pT) (D*) > 1.25 GeV and |eta( D*)| < 1.8. The data sample corresponds to an integrated luminosity of 348 pb(-1) collected with the H1 detector. S

Introduction Ihe association of physical inactivity with mortality, cardiovascular disease and cancer is extensively studied in adults. Clustering of cardiovascular risk factors and objectively measured physical activity in children and youth has not been convincingly established. The sustainability of objectively measured physical activity into adulihood is not satisfactorily studied. Acceleromet

This article presents an experimental investigation of thermally induced residual stresses in fabricated 3CR12 (DIN 1.4003) T-sections. 3CR12 is a weldable utility stainless steel developed to provide a superior alternative to coated carbon steels and other alloys which have a poor corrosion/abrasion resistance. Because of the difficulty and costs involved in hot-rolling stainless steel structural

BACKGROUND: Disturbances of the circadian rhythm of cortisol secretion are associated with depression, coronary calcification, and higher all-cause and cardiovascular mortality.The primary aim of this study was to test the associations between midnight salivary cortisol (MSC), depression and HbA1c, and control for behavioural, environmental and intra individual factors with possible impact on cort

Background: There is an association between a greater adherence to a Mediterranean diet and a reduced risk of developing chronic diseases. However, it is not clear whether this dietary pattern may be protective also against the development of obesity. Objective: We assessed the association between the adherence to the Mediterranean dietary pattern (MDP), prospective weight change, and the incidenc

In this paper, we present, for the first time, the absorption and reduced scattering spectra of commercially available milk and yoghurt products, obtained using photon-time-of-flight spectroscopy. The ability of this technique to separate the contributions from absorption and scattering in the sample provides important information on the chemical composition and micro-structural properties, which

Background and purpose - Outcome measurement has been shown to improve performance in several fields of healthcare. This understanding has driven a growing interest in value-based healthcare, where value is defined as outcomes achieved per money spent. While low back pain (LBP) constitutes an enormous burden of disease, no universal set of metrics has yet been accepted to measure and compare outco

The M protein of Streptococcus pyogenes, a major bacterial virulence factor, has an amino-terminal hypervariable region (HVR) that is a target for type-specific protective antibodies. Intriguingly, the HVR elicits a weak antibody response, indicating that it escapes host immunity by two mechanisms, sequence variability and weak immunogenicity. However, the properties influencing the immunogenicity

A simple and accurate method of differentiating ischemic stroke and intracerebral hemorrhage (ICH) is potentially useful to facilitate acute therapeutic management. Blood measurements of biomarkers of brain damage and activation of the coagulation system may potentially serve as novel diagnostic tools for stroke subtypes. Ninety-seven stroke patients were prospectively investigated in a multicente

Background. The ability to predict clinical function of a specific islet batch released for clinical transplantation using standardized variables remains an elusive goal. Methods. Analysis of 10 donor, 7 islet isolation, 3 quality control, and 6 recipient variables was undertaken in 110 islet-after-kidney transplants and correlated to the pre- to 28-day posttransplant change in C-peptide to glucos