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The risk for psychiatric disorders in offspring from thrombosis-prone pedigrees in Sweden : a nationwide family study

Background: Psychiatric disorders have been associated with venous thromboembolism (VTE). However, to our knowledge, no nationwide study has examined the familial association between VTE and psychiatric disorders. Objectives: We took a pedigree-based approach and examined the risk of psychiatric disorders in offspring from extended pedigrees according to the densities of VTE in pedigrees. Methods:

Disruption of the TP53 locus in osteosarcoma leads to TP53 promoter gene fusions and restoration of parts of the TP53 signalling pathway

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

A prospective prostate cancer screening programme for men with pathogenic variants in mismatch repair genes (IMPACT): : initial results from an international prospective study

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

Dislocation of hemiarthroplasty after hip fracture is common and the risk is increased with posterior approach : result from a national cohort of 25,678 individuals in the Swedish Hip Arthroplasty Register

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

MOCCA-SURVEY database I. Accreting white dwarf binary systems in globular clusters - IV. Cataclysmic variables - properties of bright and faint populations

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 unresolved phylogenomic tree of butterflies and moths (Lepidoptera) : Assessing the potential causes and consequences

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 for nonlinear solid mechanics using reduced order models with Gaussian process regression

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

Fatal nonocclusive mesenteric ischaemia: population-based incidence and risk factors.

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

Availability of laparoscopic surgery in Mexico's public health system : a nationwide retrospective analysis

BACKGROUND: Laparoscopic surgery remains limited in low-resource settings. We aimed to examine its use in Mexico and determine associated factors.METHODS: By querying open-source databases, we conducted a nationwide retrospective analysis of three common surgical procedures (i.e., cholecystectomies, appendectomies, and inguinal hernia repairs) performed in Mexican public hospitals in 2021. Procedu

Exonic DNA sequencing of ERBB4 in bipolar disorder

The Neuregulin-ErbB4 pathway plays a crucial role in brain development and constitutes one of the most biologically plausible signaling pathways implicated in schizophrenia and, to a lesser extent, in bipolar disorder (BP). However, recent genome-wide association analyses have not provided evidence for common variation in NRG1 or ERBB4 influencing schizophrenia or bipolar disorder susceptibility.

On safety ontology : A cross-section analysis of incident investigations in a public healthcare system

Background:Due to new legislation in 2011 and 2013, the Swedish public healthcare system has undergone change as regards incident reporting and supervision. Focus has turned to learning from adverse events and sharing this learning with actors within the system. The aim of this study was to explore with what underlying safety ontology adverse events in the incident reporting system are investigate

Method for probabilistic energy calculations : variable parameters

Building regulations in Sweden require that an energy calculation is done for every building to show that the building design meets the maximum specific energy use as outlined in the Swedish Building Code. The result of this energy calculation is always one number, for example a building might use 89 kWh/m2 year when the building regulation requires 90 kWh/m2 year. This level of reporting can lead

Thoracic endovascular aortic repair with stent grafts alone or with a composite device design in patients with acute type B aortic dissection in the setting of malperfusion

Objective: The objective of this study was to compare short-term outcomes in patients who underwent thoracic endovascular aortic repair (TEVAR) with stent grafts alone or with a composite device design (stent graft plus bare-metal aortic stent) for acute type B aortic dissection in the setting of malperfusion. Methods: This retrospective analysis included patients with acute (≤14 days of symptom o

Genomic signatures of experimental adaptive radiation in Drosophila

Abstract Abiotic environmental factors play a fundamental role in determining the distribution, abundance, and adaptive diversification of species. Empowered by new technologies enabling rapid and increasingly accurate examination of genomic variation in populations, researchers may gain new insights into the genomic background of adaptive radiation and stress resistance. We investigated genomic v

Suicide mortality after discharge from inpatient care for bipolar disorder : A 14-year Swedish national registry study

Bipolar disorder has long been associated with increased risks for suicidality; though factors associated with dying by suicide remain obscure. Here, we retrospectively examine the associations between the different phases of bipolar illness and other common comorbidities with death by suicide in the 120 days following each discharge for Swedes first admitted as inpatients for bipolar disorder dur

Elastic nanobeam modelled using peridynamics - length scale effects

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

Variable Familial Exudative Vitreoretinopathy in a family harbouring variants in both FZD4 and TSPAN12

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.

Probing Atomic Scale Structure and Catalytic Properties of Cobalt Oxide Model Catalysts

Catalysts are used to produce a large fraction of the materials we use in our modern society. Avery famous example is the highly efficient catalysts that are used to fix nitrogen from the air intoartificial fertilizer salts. Without this catalytic process, it is difficult to imagine that we could feedthe current population of earth. Artificial fertilizers are, however, not the only product that usCobalt oxides are known to be active catalysts for a number of chemical reactions, but very little is known about the atomic scale processesresponsible for the activity. The research presented in this thesis is focused on obtaining an atomic scale understanding of the chemistry of wellcharacterizedcobalt oxide model catalyst surfaces consisting of pristine and defective CoO and Co3O4 thin films wi