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BACKGROUND: Lynch syndrome is a rare familial cancer syndrome caused by pathogenic variants in the mismatch repair genes MLH1, MSH2, MSH6, or PMS2, that cause predisposition to various cancers, predominantly colorectal and endometrial cancer. Data are emerging that pathogenic variants in mismatch repair genes increase the risk of early-onset aggressive prostate cancer. The IMPACT study is prospect

Background and purpose — Reported revision rates due to dislocation after hemiarthroplasty span a wide range. Dislocations treated with closed reduction are rarely reported despite the fact that they can be expected to constitute most of the dislocations that occur. We aimed to describe the total dislocation rate on the national level, and to identify risk factors for dislocation. Patients and met

To preserve biodiversity and ecosystem services, company engagement is crucial. However, available data on manager views and perceptions regarding nature conservation in particular is rare. The presented survey data gives insights into current levels and forms of business commitments for nature conservation. The data contributes to understanding business attitudes towards voluntary conservation ac

We investigate here populations of cataclysmic variables (CVs) in a set of 288 globular cluster (GC) models evolved with the MOCCA code. This is by far the largest sample of GC models ever analysed with respect to CVs. Contrary to what has been argued for a long time, we found that dynamical destruction of primordial CV progenitors is much stronger in GCs than dynamical formation of CVs, and that

The field of molecular phylogenetics is being revolutionized with next-generation sequencing technologies making it possible to sequence large numbers of genomes for non-model organisms ushering us into the era of phylogenomics. The current challenge is no longer how to get enough data, but rather how to analyse the data and how to assess the support for the inferred phylogeny. Here, we focus on o

Uncertainty quantification (UQ) tasks, such as sensitivity analysis and parameter estimation, entail a huge computational complexity when dealing with input-output maps involving the solution of nonlinear differential problems, because of the need to query expensive numerical solvers repeatedly. Projection-based reduced order models (ROMs), such as the Galerkin-reduced basis (RB) method, have been

In what ways can various perspectives, aims, circumstances, and directives influence music students and music teachers in different educational contexts such as primary school, Schools of music and performing arts (SMPA), folk high school, and upper secondary school, viewed from a Nordic perspective?A common characteristic for all these types of schools is that they can be part of an educational a

Introduction Individual cognitive behavioural therapy (CBT) with exposure and response prevention is an effective treatment for obsessive-compulsive disorder (OCD). However, individual CBT is costly and time-consuming, requiring weekly therapy sessions for 3-4 months. A 4-day intensive version of CBT for OCD delivered in group format has been recently developed in Norway (Bergen 4-day treatment, B

TP53 is the most frequently mutated gene in human cancer. This gene shows not only loss-of-function mutations but also recurrent missense mutations with gain-of-function activity. We have studied the primary bone malignancy osteosarcoma, which harbours one of the most rearranged genomes of all cancers. This is odd since it primarily affects children and adolescents who have not lived the long life

The traditional multiscale approach couples two models operating at different scales. An alternative modelling strategy, called peridynamics originally developed by [1], is to continualize the molecular dynamic models, thus replacing inhomogeneities present on smaller length scales by an enhanced continuum description on larger length scales resulting in a nonlocal reformulation of continuum mecha

Purpose: To report a family affected by familial exudative vitreoretinopathy (FEVR) in which more severe disease phenotypes segregated with digenic rather than monogenic variants in FEVR-related genes. Methods: Phenotype was documented with high-resolution imaging of retinal structure and wide-field fundus photography. Next-generation sequencing (NGS) of known genes involved in FEVR was performed.

Reducing the prevalence of mastitis caused by Staphylococcus aureus (S. aureus) is essential to improve animal health and reduce economic losses for farmers. The clinical outcome of acute mastitis and risk of progression to persistent mastitis can, at least to some extent, be related to genetic variants of the strain causing the infection. In the present study we have used microarrays to investiga

To estimate the incidence and extension of visceral organ infarction, and to evaluate potential causes, in patients with autopsy-verified nonocclusive mesenteric ischaemia (NOMI) and transmural intestinal infarction. In Malmo, Sweden, the autopsy rate between 1970 and 1982 was 87%, creating possibilities for a population-based study. Amongst 23 446 clinical autopsies, 997 cases were coded for inte

Objectives. To study electrocardiogram (ECG) in relation to forensic diagnosis in young persons who suffered a sudden cardiac death (SCD) in Sweden during 1992-99. Design. A register study of a national database of forensic medicine in Sweden, selecting all cases of SCD 15-35 years of age. In this group, 12-lead ECGs and clinical data were searched for in military conscription and medical records.

It is currently unclear how often genes that are mutated to cause rare, early-onset monogenic forms of disease also harbor common variants that contribute to the more typical polygenic form of each disease. The gene for MODY3 diabetes, HNF1 alpha, lies in a region that has shown linkage to late-onset type 2 diabetes (12q24, NIDDM2), and previous association studies have suggested a weak trend towa

Written submissions or comments as a response on an EIS (Environmental Impact Statement) rank as one of the most common forms of public participation. Within public participation research there appears to be an international dearth of knowledge concerning such written submissions. The possible impact of such responses on an EIS is - with few exceptions - seldom put in focus. The aim in the present

About 10% of the patients with neurofibromatosis type 1 (NF1) develop malignant peripheral nerve sheath tumors (MPNSTs), accounting for half of all MPNST cases. Several nonrandom chromosomal aberrations have been found, but the target genes remain mostly unrecognized. Mutations in the NF1 and TP53 genes have been found in some MPNSTs, and recent data from mouse models support a synergistic effect

Popular Abstract in English Bolivia is the seventh richest country regarding biodiversity in the world. Also, in its territory more than 36 indigenous nations co-exist. Each of these has traditional medicines that are passed on from generation to generation orally. It has been estimated that the Bolivian flora has more than 20,000 plant species. Some of these are being explored for their pharmaceuColon cancer is common in both developed and developing countries, and is responsible for at least 600,000 deaths globally every year. It is therefore the second most common cause of cancer-related mortality. Extensive studies are being conducted worldwide to find more effective drugs that can be used in cancer treatment. In these studies, phytochemicals have proven to be good sources for drug dis

In this paper we study an optimization problem relevant for wireless networks. In such networks links are subject to capacity disruptions caused by changing weather/channel condition that force to adapt the modulation and coding schemes to the observed condition. To cope with this issue in network optimization, we need to consider a so called link availability set A and a routing strategy that can

Popular Abstract in Swedish Brist på fria radikaler kan ge artrit Fagocytiska celler i vårt immunförsvar producerar fria syre-radikaler för att eliminera fagocyterade (uppätna) mikroorganismer. Produktionen av dessa syre-radikaler sker med hjälp av ett enzymkomplex (NADPH oxidas) i cellmembranet samt i membranet på de fagosomer, innehållande mikroorganismer, som bildas i och med fagocytos. MännisThe aim of this thesis is to defend a novel mechanism that triggers arthritis susceptibility in both rats and mice through reduced production of reactive oxygen species (ROS), but also to introduce a novel model for chronic relapsing arthritis. Five papers are included, all of which employ animal models for rheumatoid arthritis and one that also uses animal models for multiple sclerosis. Paper I a