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PURPOSE: To analyze the effect of germline mutations in BRCA1 and BRCA2 on mortality in patients with ovarian cancer up to 10 years after diagnosis.EXPERIMENTAL DESIGN: We used unpublished survival time data for 2,242 patients from two case-control studies and extended survival time data for 4,314 patients from previously reported studies. All participants had been screened for deleterious germlin

Objective-To study how Niemann-Pick disease type C1 (NPC1) influences hepatic triacylglycerol (TG) metabolism and to determine whether this is reflected in circulating lipid levels. Methods and Results-In Npc1(-/-) mice, the hepatic cholesterol content is increased but the TG content is decreased. We investigated lipid metabolism in Npc1(-/-) mouse hepatocytes and the association of NPC1 single-nu

Arterial stiffness has been hypothesized to contribute to cognitive decline. However, previous studies have reported inconsistent results. The aim of this cross-sectional study was to investigate the association between carotid-femoral pulse wave velocity (cfPWV), a marker of arterial stiffness, and cognitive function.

In order to investigate molecular events involved in the regulation of lymphoid lineage commitment, we crossed lambda5 reporter transgenic mice to Rag1-GFP knock in mice. This allowed us to sub-fractionate common lymphoid progenitors (CLPs) and pre-pro-B (Fraction A) cells into lambda5(-)Rag1(low), lambda5(-)Rag1(high) and lambda5(+)Rag1(high) cells. Clonal in vitro differentiation analysis demons

Objectives: To investigate whether KALRN gene variation is associated with ischemic stroke (IS). Design and methods: Associations to overall IS and IS subtypes were investigated in SAHLSIS, which comprises 844 patients with IS and 668 controls. Results: Associations between KALRN SNPs and overall IS and cardioembolic stroke were detected. Associations for overall IS were investigated in two additi

The flexibility demands in manufacturing are severe, e.g., for rapid-change-over to new product variants, while robots are flexible machines that potentially can be adapted to a large variety of production tasks. Task definitions such as explicit robot programs are hardly reusable from an application point-of-view. To improve the situation, a knowledge-based approach exploiting distributed declara

Blood pressure is a heritable trait(1) influenced by several biological pathways and responsive to environmental stimuli. Over one billion people worldwide have hypertension (>= 140 mm Hg systolic blood pressure or >= 90 mm Hg diastolic blood pressure)(2). Even small increments in blood pressure are associated with an increased risk of cardiovascular events(3). This genome-wide association study o

Critical infrastructures provide essential services which enable our society to function. Disruptions in infrastructures can have widespread effects, not only for the originating infrastructure but also, through mutual dependencies, for other infrastructures. Identifying vulnerabilities inherent in these system-of-systems is thus highly critical for the proactive management and avoidance of future

Do women who have diabetes before menopause have their menopause at an earlier age compared with women without diabetes?

The performance of teams, with different levels of domain and crisis management experience, managing unexpected and escalating situations was observed using a mid-fidelity ship-bridge simulation and analysed by applying the central concepts of joint activity coordination as well as Woods’s theory building on data overload. The coordination strategies used by the teams were evaluated by applying coo

An increasing amount of evidence suggests that in several amyloid diseases, the fibril formation in vivo and the mechanism of toxicity both involve membrane interactions. We have studied Alzheimer's disease related amyloid beta peptide (Abeta). Recombinant Abeta(M1-40) and Abeta(M1-42) produced in Escherichia coli, allows us to carry out large scale kinetics assays with good statistics. The amyloi

We used the paradigmatic GATA-PU.1 axis to explore, at the systems level, dynamic relationships between transcription factor (TF) binding and global gene expression programs as multipotent cells differentiate. We combined global ChIP-seq of GATA1, GATA2, and PU.1 with expression profiling during differentiation to erythroid and neutrophil lineages. Our analysis reveals (1) differential complexity

The aim of this work was to develop a model suited for detailed studies of aerosol dynamics, gas and particle phase chemistry within urban plumes, from local scale (1x1 km(2)) to regional scale. This article describes and evaluates the trajectory model for Aerosol Dynamics, gas and particle phase CHEMistry and radiative transfer (AD-CHEM). The model treats both vertical and horizontal dispersion p

Observational studies have reported different effects of adiposity on cardiovascular risk factors across age and sex. Since cardiovascular risk factors are enriched in obese individuals, it has not been easy to dissect the effects of adiposity from those of other risk factors. We used a Mendelian randomization approach, applying a set of 32 genetic markers to estimate the causal effect of adiposit

Heredity is a major cause of colorectal cancer, but although several rare high-risk syndromes have been linked to disease-predisposing mutations, the genetic mechanisms are undetermined in the majority of families suspected of hereditary cancer. We review the clinical presentation, histopathologic features, and the genetic and epigenetic profiles of the familial colorectal cancer type X (FCCTX) sy

Numerous obesity loci have been identified using genome-wide association studies. A UK study indicated that physical activity may attenuate the cumulative effect of 12 of these loci, but replication studies are lacking. Therefore, we tested whether the aggregate effect of these loci is diminished in adults of European ancestry reporting high levels of physical activity. Twelve obesity-susceptibili

Patients with acute dyspnea are a large heterogeneous patient group where initial management is important for outcome.

Computed tomography (CT) of the brain is used extensively in the urgent work-up of patients with a suspicion of intracranial pathology, but is often normal. Previously proposed selection criteria aim at limiting the ordering of urgent cranial CT in the non-trauma population, while maintaining high sensitivity for diagnoses demanding immediate attention.