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Sanfilippo syndrome type C (mucopolysaccharidosis IIIC) is an early-onset neurodegenerative lysosomal storage disorder, which is currently untreatable. The vast majority of studies focusing on disease mechanisms of Sanfilippo syndrome were performed on non-neural cells or mouse models, which present obvious limitations. Induced pluripotent stem cells (iPSCs) are an efficient way to model human dis
Traumatic brain injury (TBI) and repeated sports-related concussions (rSRCs) are associated with an increased risk for neurodegeneration. Autopsy findings of selected cohorts of long-term TBI survivors and rSRC athletes reveal increased tau aggregation and a persistent neuroinflammation. To assess in vivo tau aggregation and neuroinflammation in young adult TBI and rSRC cohorts, we evaluated 9 hea
Streptococcus pneumoniae (pneumococcus) resides asymptomatically in the nasopharynx but can progress from benign colonizer to lethal pulmonary or systemic pathogen. Both viral infection and aging are risk factors for serious pneumococcal infections. Previous work established a murine model that featured the movement of pneumococcus from the nasopharynx to the lung upon nasopharyngeal inoculation w
A diabetic foot ulcer (DFU) is a common and serious complication of diabetes. It is today the leading cause of amputations and is associated with both increased morbidity and mortality. Individuals with DFU have 2.5 times higher mortality rates compared to patients with diabetes but without DFU, a risk that persists even after ulcer healing. Macrovascular complications, such as a higher burden of A diabetic foot ulcer (DFU) is a common and serious complication of diabetes. It is today the leading cause of amputations and is associated with both increased morbidity and mortality. Individuals with DFU have 2.5 times higher mortality rates compared to patients with diabetes but without DFU, a risk that persists even after ulcer healing. Macrovascular complications, such as a higher burden of
Biogeochemical models use meteorological forcing data derived with different approaches(e.g. based on interpolation or reanalysis of observation data or a hybrid hereof) to simulateecosystem processes such as gross primary productivity (GPP). This study assesses theimpact of different widely used climate datasets on simulated gross primary productivity andevaluates the suitability of them for repr
The breast cancer risk variants identified in genome-wide association studies explain only a small fraction of the familial relative risk, and the genes responsible for these associations remain largely unknown. To identify novel risk loci and likely causal genes, we performed a transcriptome-wide association study evaluating associations of genetically predicted gene expression with breast cancer
Partially premixed combustion aims to reduce NOx and particulate matter emission without fuel consumption penalty. Low temperature reactions are important for the partially premixed combustion. In the current study, a self-adaptive strategy is introduced to predict the motoring pressure by means of an equivalent isentropic index. The start of the low temperature reactions is detected when the pres
Energy intensive industries (EIIs), producing the basic materials and products needed in society, contribute significantly to global emissions of greenhouse gases (GHGs). Motivated by the fear of carbon leakage, climate policy has so far treated the EIIs leniently with e.g. low carbon prices and/or free allocation of emission allowances. This has not resulted in more than marginal emission abatemeEnergy intensive industries (EIIs), producing the basic materials and products needed in society, contributesignificantly to global emissions of greenhouse gases (GHGs). Motivated by the fear of carbon leakage, climatepolicy has so far treated the EIIs leniently with e.g. low carbon prices and/or free allocation of emissionallowances. This has not resulted in more than marginal emission abatement.
BACKGROUND: Chronic obstructive pulmonary disease (COPD) and asthma are common diseases with a heterogeneous distribution worldwide. Here, we present methods and disease and risk estimates for COPD and asthma from the Global Burden of Diseases, Injuries, and Risk Factors (GBD) 2015 study. The GBD study provides annual updates on estimates of deaths, prevalence, and disability-adjusted life years (
Genome-wide association studies (GWAS) identified the chromosome 15q25.1 locus as a leading susceptibility region for lung cancer. However, the pathogenic pathways, through which susceptibility SNPs within chromosome 15q25.1 affects lung cancer risk, have not been explored. We analyzed three cohorts with GWAS data consisting 42,901 individuals and lung expression quantitative trait loci (eQTL) dat
Women with a history of hypertensive disorders of pregnancy (HDP; preeclampsia and gestational hypertension) or delivering low birth weight offspring (LBW; < 2500 g) have twice the risk of cardiovascular disease (CVD). We aimed to study the extent to which history of these pregnancy complications improves CVD risk prediction above and beyond conventional predictors. Parous women attended standardi
Background: Treatment of patients with knee osteoarthritis is challenging. Unloader braces have been developed with various success. Unloader One® Knee Brace is light, easily-fitted and shown to be effective by the unloading of the affected compartment. The aim of the study was to assess the clinical outcome of the brace vs. a placebo on patients with knee osteoarthritis. Methods: Initially 150 pa
Although conventional computer technology made a huge leap forward in the past decade, a vast number of computational problems remain inaccessible due to their inherently complex nature. One solution to deal with this computational complexity is to highly parallelize computations and to explore new technologies beyond semiconductor computers. Here, we report on initial results leading to a device
STUDY QUESTION: Is there an association between the number of oocytes retrieved for IVF, and perinatal and obstetric outcomes? SUMMARY ANSWER: No significant association was found between the number of oocytes retrieved and perinatal outcomes, while an association was found for placenta praevia and male gender. WHAT IS KNOWN ALREADY: Previous studies have shown that between 6 and 15 oocytes retrie
National virtual multidisciplinary team meetings have been established in Swedish cancer care in response to centralized treatment of rare cancers. Though national meetings grant access to a large multidisciplinary network, we hypothesized that video-based meetings may challenge participants’ contributions to the case discussions. We investigated participants’ views and used observational tools to
Background: Careful assessment of the reasons for discontinuation of active surveillance (AS) is required for men with prostate cancer (PCa). Objective: Using Movember's Global Action Plan Prostate Cancer Active Surveillance initiative (GAP3) database, we report on reasons for AS discontinuation. Design, setting, and participants: We compared data from 10 296 men on AS from 21 centres across 12 co
The aim of this report is to establish recommendations for reviewing, reporting, and conducting research during the post-resuscitation period in hospital. It defines data that are needed for research and more specialised registries and therefore supplements the recently updated Utstein template for resuscitation registries. The updated Utstein template and the out-of-hospital "Chain of Survival" d
Methanol has unique properties as a fuel, and partially premixed combustion has promising results with high engine efficiency and low emissions. Low load studies with methanol partially premixed combustion are scarce, and the effect of intake temperature on low load methanol partially premixed combustion still remains an intriguing question. This study aims to investigate the effect of intake temp
Background and objectives: The aim of our study is to validate the registration of knee arthroplasty revisions in the Lithuanian Arthroplasty Register (LAR) and thus give an indication of the accuracy of the published revision rates. Materials and methods: A total of 4269 primary total knee arthroplasties (TKAs) registered in the LAR between 2013 and 2015 were included. Two years after surgery the
