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1.
  • Sliz, E., et al. (author)
  • Evidence of a causal effect of genetic tendency to gain muscle mass on uterine leiomyomata
  • 2023
  • In: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 14:1
  • Journal article (peer-reviewed)abstract
    • Uterine leiomyomata (UL) are the most common tumours of the female genital tract and the primary cause of surgical removal of the uterus. Genetic factors contribute to UL susceptibility. To add understanding to the heritable genetic risk factors, we conduct a genome-wide association study (GWAS) of UL in up to 426,558 European women from FinnGen and a previous UL meta-GWAS. In addition to the 50 known UL loci, we identify 22 loci that have not been associated with UL in prior studies. UL-associated loci harbour genes enriched for development, growth, and cellular senescence. Of particular interest are the smooth muscle cell differentiation and proliferation-regulating genes functioning on the myocardin-cyclin dependent kinase inhibitor 1A pathway. Our results further suggest that genetic predisposition to increased fat-free mass may be causally related to higher UL risk, underscoring the involvement of altered muscle tissue biology in UL pathophysiology. Overall, our findings add to the understanding of the genetic pathways underlying UL, which may aid in developing novel therapeutics.
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  • Tabassum, R, et al. (author)
  • Genetic architecture of human plasma lipidome and its link to cardiovascular disease
  • 2019
  • In: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 10:1, s. 4329-
  • Journal article (peer-reviewed)abstract
    • Understanding genetic architecture of plasma lipidome could provide better insights into lipid metabolism and its link to cardiovascular diseases (CVDs). Here, we perform genome-wide association analyses of 141 lipid species (n = 2,181 individuals), followed by phenome-wide scans with 25 CVD related phenotypes (n = 511,700 individuals). We identify 35 lipid-species-associated loci (P <5 ×10−8), 10 of which associate with CVD risk including five new loci-COL5A1, GLTPD2, SPTLC3, MBOAT7 and GALNT16 (false discovery rate<0.05). We identify loci for lipid species that are shown to predict CVD e.g., SPTLC3 for CER(d18:1/24:1). We show that lipoprotein lipase (LPL) may more efficiently hydrolyze medium length triacylglycerides (TAGs) than others. Polyunsaturated lipids have highest heritability and genetic correlations, suggesting considerable genetic regulation at fatty acids levels. We find low genetic correlations between traditional lipids and lipid species. Our results show that lipidomic profiles capture information beyond traditional lipids and identify genetic variants modifying lipid levels and risk of CVD.
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  • Gron, K. L., et al. (author)
  • The association of fatigue, comorbidity burden, disease activity, disability and gross domestic product in patients with rheumatoid arthritis. : Results from 34 countries participating in the Quest-RA programme
  • 2014
  • In: Clinical and Experimental Rheumatology. - 0392-856X .- 1593-098X. ; 32:6, s. 869-877
  • Journal article (peer-reviewed)abstract
    • Objective The aim is to assess the prevalence of comorbidities and to further analyse to which degree fatigue can be explained by comorbidity burden, disease activity, disability and gross domestic product (GDP) in patients with rheumatoid arthritis (RA). Methods Nine thousands eight hundred seventy-four patients from 34 countries, 16 with high GDP (>24.000 US dollars [USD] per capita) and 18 low-GDP countries (<24.000 USD) participated in the Quantitative Standard monitoring of Patients with RA (QUEST-RA) study. The prevalence of 31 comorbid conditions, fatigue (0-10 cm visual analogue scale [VAS] [10 worst]), disease activity in 28 joints (DAS28), and physical disability (Health Assessment Questionnaire score MAW) were assessed. Univariate and multivariate linear regression analyses were performed to assess the association between fatigue and comorbidities, disease activity, disability and GDP. Results Overall, patients reported a median of 2 comorbid conditions of which hypertension (31.5%), osteoporosis (17.6%), osteoarthritis (15.5%) and hyperlipidaemia (14.2%) were the most prevalent. The majority of comorbidities were more common in high-GDP countries. The median fatigue score was 4.4 (4.8 in low-GDP countries and 3.8 in high-GDP countries, p<0.001). In low-GDP countries 25.4% of the patients had a high level of fatigue (>6.6) compared with 23.0% in high-GDP countries (p<0.001). In univariate analysis, fatigue increased with increasing number of comorbidities, disease activity and disability in both high- and low-GDP countries. In multivariate analysis of all countries, these 3 variables explained 29.4% of the variability, whereas GDP was not significant. Conclusion Fatigue is a widespread problem associated with high comorbidity burden, disease activity and disability regardless of GDP.
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  • Kuisma, H, et al. (author)
  • Parity associates with chromosomal damage in uterine leiomyomas
  • 2021
  • In: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 12:1, s. 5448-
  • Journal article (peer-reviewed)abstract
    • Mechanical forces in a constrained cellular environment were recently established as a facilitator of chromosomal damage. Whether this could contribute to tumorigenesis is not known. Uterine leiomyomas are common neoplasms that display relatively few chromosomal aberrations. We hypothesized that if mechanical forces contribute to chromosomal damage, signs of this could be seen in uterine leiomyomas from parous women. We examined the karyotypes of 1946 tumors, and found a striking overrepresentation of chromosomal damage associated with parity. We then subjected myometrial cells to physiological forces similar to those encountered during pregnancy, and found this to cause DNA breaks and a DNA repair response. While mechanical forces acting in constrained cellular environments may thus contribute to neoplastic degeneration, and genesis of uterine leiomyoma, further studies are needed to prove possible causality of the observed association. No evidence for progression to malignancy was found.
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  • Obersteiner, M., et al. (author)
  • Managing Climate Risks
  • 2001
  • In: Science. ; 294:5543, s. 786-787
  • Journal article (peer-reviewed)
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  • Di Giuseppe, D., et al. (author)
  • The occurrence of multiple treatment switches in axial spondyloarthritis. Results from five Nordic rheumatology registries
  • 2022
  • In: Rheumatology. - : Oxford University Press (OUP). - 1462-0324 .- 1462-0332. ; 61:9, s. 3647-3656
  • Journal article (peer-reviewed)abstract
    • Objectives In axial spondyloarthritis (axSpA), switching between multiple biologic or targeted synthetic (b/ts-) DMARDs might indicate difficult-to-treat disease. We aimed to explore the occurrence of multiple switching in routine care axSpA patients using various definitions, and to identify associated clinical characteristics upon start of first b/tsDMARD (baseline). Methods Observational cohort study including patients with axSpA starting a first-ever b/tsDMARD 2009-2018 based on data from five biologic registries (Denmark/Sweden/Finland/Norway/Iceland). Comorbidities and extra-articular manifestations were identified through linkage to national registries. Multi-switching was defined in overlapping categories according to b/tsDMARD treatment history: treatment with >= 3, >= 4 or >= 5 b/tsDMARDs during follow-up. We explored the cumulative incidence of patients becoming multi-switchers with >= 3 b/tsDMARDs stratified by calendar-period (2009-2011, 2012-2013, 2014-2015, 2016-2018). In the subgroup of patients starting a first b/tsDMARD 2009-2015, baseline characteristics associated with multi-switching (within 3 years' follow-up) were explored using multiple logistic regression analyses. Results Among 8398 patients included, 6056 patients (63% male, median age 42 years) started a first b/tsDMARD in 2009-2015, whereof proportions treated with >= 3, >= 4 or >= 5 b/tsDMARDs within 3 years' follow-up were 8%, 3% and 1%, respectively. Calendar-period did not affect the cumulative incidence of multi-switching. Baseline characteristics associated with multi-switching (>= 3 b/tsDMARDs) were female gender, shorter disease duration, higher patient global score, comorbidities and having psoriasis but not uveitis. Conclusion In this large Nordic observational cohort of axSpA patients, multiple switching was frequent with no apparent time-trend. Clinical associated factors included gender, but also previous comorbidities and extra-articular manifestations illustrating the ongoing challenge of treating this patient group.
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  • Kauppi, L., et al. (author)
  • Seasonal variability in ecosystem functions : quantifying the contribution of invasive species to nutrient cycling in coastal ecosystems
  • 2017
  • In: Marine Ecology Progress Series. - : Inter-Research Science Center. - 0171-8630 .- 1616-1599. ; 572, s. 193-207
  • Journal article (peer-reviewed)abstract
    • Benthic ecosystems at temperate and high latitudes experience marked seasonal variation in the environmental factors affecting nutrient remineralization processes both directly and indirectly through their effects on the benthic communities. The invasive polychaete genus Marenzelleria represents new functionality in Baltic Sea sediments through its deep burrowing and extensive gallery formation, thus possibly greatly affecting benthic oxygen and nutrient fluxes. We assessed the seasonal contribution of Marenzelleria spp. to fluxes of solutes in monthly field measurements at 2 sites, 10 and 33 m deep, in the northern Baltic Proper over 1 yr. In general, the fluxes of inorganic nutrients and oxygen were higher during summer than during winter, and the seasonal variation was more pronounced at the deeper, more biologically active site. By using variation partitioning, we were able to demonstrate that Marenzelleria and other macrofauna could account for up to 92% of the variation in the fluxes depending on the site and season. Fauna was the most important in predicting the fluxes in spring when the sediment organic content and the abundance of juvenile Marenzelleria spp. were highest, while during e.g. winter, the influence of Marenzelleria spp., even though abundant, on solute fluxes was negligible. The results from this study have implications for management, and, importantly, for the modelling of nutrient budgets often based on values from studies conducted during the summer period only, thus possibly greatly miscalculating the annual nutrient fluxes.
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  • Obersteiner, M., et al. (author)
  • Managing climate risk
  • 2001
  • In: Science magazine. - Washington DC : American Association for the Advancement of Science (AAAS). - 0036-8075 .- 1095-9203. ; 294:5543, s. 786-787
  • Journal article (peer-reviewed)abstract
    • Stabilization of atmospheric greenhouse gas (GHG) concentrations at a safe level is a paradigm that the scientific andpolicy communities have widely adopted for addressing the problem of climate change. However, aiming to stabilize concentrations at a single target level might not be a robust strategy, given that the environment is extremely uncertain. The availability of technological options for adaptation, preventive mitigation, and backstop risk measures will be critical for limiting the risks associated with climate change. Technologies that can rapidly remove GHGs from the atmosphere will play an important role. Terrestrial sinks are limited by land requirements and saturation, and concerns about permanence limit their attractiveness. Biomass energy can be used both to produce carbon neutral energy carriers, e.g., electricity and hydrogen, and at the same time offer a permanent CO2 sink by capturing carbon from the biomass at the conversion facility and permanently storing it in geological formations. It is concluded that a system of climate risk management is practicable and necessary. Increasing deployment of sustainable bioenergy with carbon removal and sequestration, together with structural shift toward low carbon-intensive fuels, will turn out to be instrumental for such a risk-limiting regime.
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  • Athanasiu, L., et al. (author)
  • A genetic association study of CSMD1 and CSMD2 with cognitive function
  • 2017
  • In: Brain Behavior and Immunity. - : Elsevier BV. - 0889-1591 .- 1090-2139. ; 61, s. 209-216
  • Journal article (peer-reviewed)abstract
    • The complement cascade plays a role in synaptic pruning and synaptic plasticity, which seem to be involved in cognitive functions and psychiatric disorders. Genetic variants in the closely related CSMD1 and CSMD2 genes, which are implicated in complement regulation, are associated with schizophrenia. Since patients with schizophrenia often show cognitive impairments, we tested whether variants in CSMD1 and CSMD2 are also associated with cognitive functions per se. We took a discovery-replication approach, using well-characterized Scandinavian cohorts. A total of 1637 SNPs in CSMD1 and 206 SNPs in CSMD2 were tested for association with cognitive functions in the NCNG sample (Norwegian Cognitive NeuroGenetics; n = 670). Replication testing of SNPs with p-value < 0.001 (7 in CSMD1 and 3 in CSMD2) was carried out in the TOP sample (Thematically Organized Psychosis; n =1025) and the BETULA sample (Betula Longitudinal Study on aging, memory and dementia; n = 1742). Finally, we conducted a meta-analysis of these SNPs using all three samples. The previously identified schizophrenia marker in CSMD1 (SNP rs10503253) was also included. The strongest association was observed between the CSMDI SNP rs2740931 and performance in immediate episodic memory (p-value = 5 Chi 10(-6), minor allele A, MAF 0.48-0.49, negative direction of effect). This association reached the study-wide significance level (p <= 1.2 Chi 10(-5)). SNP rs10503253 was not significantly associated with cognitive functions in our samples. In conclusion, we studied n = 3437 individuals and found evidence that a variant in CSMD1 is associated with cognitive function. Additional studies of larger samples with cognitive phenotypes will be needed to further clarify the role of CSMD1 in cognitive phenotypes in health and disease. (C) 2016 The Authors. Published by Elsevier Inc.
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  • Hansen, S., et al. (author)
  • Prevalence and management of severe asthma in the Nordic countries: findings from the NORDSTAR cohort
  • 2023
  • In: ERJ Open Research. - : European Respiratory Society (ERS). - 2312-0541. ; 9:2
  • Journal article (peer-reviewed)abstract
    • Background Real-life evidence on prevalence and management of severe asthma is limited. Nationwide population registries across the Nordic countries provide unique opportunities to describe prevalence and management patterns of severe asthma at population level. In nationwide register data from Sweden, Norway and Finland, we examined the prevalence of severe asthma and the proportion of severe asthma patients being managed in specialist care. Methods This is a cross-sectional study based on the Nordic Dataset for Asthma Research (NORDSTAR) research collaboration platform. We identified patients with severe asthma in adults (aged >= 18 years) and in children (aged 6-17 years) in 2018 according to the European Respiratory Society/American Thoracic Society definition. Patients managed in specialist care were those with an asthma-related specialist outpatient contact (only available in Sweden and Finland). Results Overall, we identified 598 242 patients with current asthma in Sweden, Norway and Finland in 2018. Among those, the prevalence of severe asthma was 3.5%, 5.4% and 5.2% in adults and 0.4%, 1.0%, and 0.3% in children in Sweden, Norway and Finland, respectively. In Sweden and Finland, 37% and 40% of adult patients with severe asthma and two or more exacerbations, respectively, were managed in specialist care; in children the numbers were 56% and 41%, respectively. Conclusion In three Nordic countries, population-based nationwide data demonstrated similar prevalence of severe asthma. In children, severe asthma was a rare condition. Notably, a large proportion of patients with severe asthma were not managed by a respiratory specialist, suggesting the need for increased recognition of severe asthma in primary care.
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  • Jalasto, J., et al. (author)
  • Mortality Associated With Occupational Exposure in Helsinki, Finland-A 24-Year Follow-up
  • 2023
  • In: Journal of Occupational and Environmental Medicine. - : Ovid Technologies (Wolters Kluwer Health). - 1076-2752 .- 1536-5948. ; 65:1, s. 22-28
  • Journal article (peer-reviewed)abstract
    • ObjectivesOur objective was to study mortality related to different obstructive lung diseases, occupational exposure, and their potential joint effect in a large, randomized population-based cohort.MethodsWe divided the participants based on the answers to asthma and chronic obstructive pulmonary disease (COPD) diagnoses and occupational exposure and used a combined effects model and compared the results to no asthma or COPD with no occupational exposure.ResultsHigh exposure had a hazards ratio (HR) of 1.34 (1.11-1.62) and asthma and COPD coexistence of 1.58 (1.10-2.27). The combined effects of intermediate exposure and coexistence had an HR of 2.20 (1.18-4.09), high exposure with coexistence of 1.94 (1.10-3.42) for overall mortality, and sub-HR for respiratory-related mortality of 3.21 (1.87-5.50).ConclusionsHigh occupational exposure increased overall but not respiratory-related mortality hazards, while coexisting asthma and COPD overall and respiratory-related hazards of mortality.
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  • Jalasto, J., et al. (author)
  • Self-Reported Physician Diagnosed Asthma with COPD is Associated with Higher Mortality than Self-Reported Asthma or COPD Alone - A Prospective 24-Year Study in the Population of Helsinki, Finland
  • 2022
  • In: Copd-Journal of Chronic Obstructive Pulmonary Disease. - : Informa UK Limited. - 1541-2555 .- 1541-2563. ; 19:1, s. 226-235
  • Journal article (peer-reviewed)abstract
    • Asthma and COPD are common chronic obstructive respiratory diseases. COPD is associated with increased mortality, but for asthma the results are varying. Their combination has been less investigated, and the results are contradictory. The aim of this prospective study was to observe the overall mortality in obstructive pulmonary diseases and how mortality was related to specific causes using postal questionnaire data. This study included data from 6,062 participants in the FinEsS Helsinki Study (1996) linked to mortality data during a 24-year follow-up. According to self-reported physician diagnosed asthma, COPD, or smoking status, the population was divided into five categories: combined asthma and COPD, COPD alone and asthma alone, ever-smokers without asthma or COPD and never-smokers without asthma or COPD (reference group). For the specific causes of death both the underlying and contributing causes of death were used. Participants with asthma and COPD had the highest hazard of mortality 2.4 (95% CI 1.7-3.5). Ever-smokers without asthma or COPD had a 9.5 (3.7-24.2) subhazard ratio (sHR) related to lower respiratory tract disease specific causes. For asthma, COPD and combined, the corresponding figures were 10.8 (3.4-34.1), 25.0 (8.1-77.4), and 56.1 (19.6-160), respectively. Ever-smokers without asthma or COPD sHR 1.7 (95% CI 1.3-2.5), and participants with combined asthma and COPD 3.5 (1.9-6.3) also featured mortality in association with coronary artery disease. Subjects with combined diseases had the highest hazard of overall mortality and combined diseases also showed the highest hazard of mortality associated with lower respiratory tract causes or coronary artery causes.
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  • Kauppi, L., et al. (author)
  • Increasing densities of an invasive polychaete enhance bioturbation with variable effects on solute fluxes
  • 2018
  • In: Scientific Reports. - : Springer Science and Business Media LLC. - 2045-2322. ; 8
  • Journal article (peer-reviewed)abstract
    • Bioturbation is a key process affecting nutrient cycling in soft sediments. The invasive polychaete genus Marenzelleria spp. has established successfully throughout the Baltic Sea increasing species and functional diversity with possible density-dependent effects on bioturbation and associated solute fluxes. We tested the effects of increasing density of M. arctia, M. viridis and M. neglecta on bioturbation and solute fluxes in a laboratory experiment. Benthic communities in intact sediment cores were manipulated by adding increasing numbers of Marenzelleria spp. The results showed that Marenzelleria spp. in general enhanced all bioturbation metrics, but the effects on solute fluxes varied depending on the solute, on the density and species identity of Marenzelleria, and on the species and functional composition of the surrounding community. M. viridis and M. neglecta were more important in predicting variation in phosphate and silicate fluxes, whereas M. arctia had a larger effect on nitrogen cycling. The complex direct and indirect pathways indicate the importance of considering the whole community and not just species in isolation in the experimental studies. Including these interactions provides a way forward regarding our understanding of the complex ecosystem effects of invasive species.
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  • Kauppi, L., et al. (author)
  • Seasonal population dynamics of the invasive polychaete genus Marenzelleria spp. in contrasting soft-sediment habitats
  • 2018
  • In: Journal of Sea Research. - : Elsevier BV. - 1385-1101 .- 1873-1414. ; 131, s. 46-60
  • Journal article (peer-reviewed)abstract
    • Three species of the invasive polychaete genus Marenzelleria are among the dominant benthic taxa in many, especially deeper, areas in the Baltic Sea. The population dynamics of the polychaetes in the Baltic are, however, still largely unknown. We conducted monthly samplings of the benthic communities and environmental parameters at five sites with differing depths and sediment characteristics in the northern Baltic Sea (59 degrees 50.896', 23 degrees 15.092') to study the population dynamics, productivity and growth of Marenzelleria spp. from April 2013 to June 2014. The species of Marenzelleria occurring at the study sites were identified by genetic analyses. At the deepest site (33 m) only M. arctia was present, while all three species were found at the shallower, muddy sites (up to 20 m depth). At the shallow (6 m) sandy site only M. viridis and M. neglecta occurred. The sites differed in the seasonal dynamics of the Marenzelleria spp. population, reflecting the different species identities. The muddy sites up to 20 m depth showed clear seasonal dynamics, with the population practically disappearing by winter, whereas more stable populations occurred at the deepest site and at the sandy site. The highest density, biomass and production were observed at the 20 m deep, organic-rich muddy site where all three species recruited. The seasonally very high densities are likely to have important consequences for organic matter processing, and species interactions at these sites. The observed high productivity of the populations has possibly facilitated their establishment, and considerably increased secondary production in especially the deeper areas.
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  • Lo, Min-Tzu, et al. (author)
  • Genome-wide analyses for personality traits identify six genomic loci and show correlations with psychiatric disorders
  • 2017
  • In: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 49:1, s. 152-156
  • Journal article (peer-reviewed)abstract
    • Personality is influenced by genetic and environmental factors(1) and associated with mental health. However, the underlying genetic determinants are largely unknown. We identified six genetic loci, including five novel loci(2,3), significantly associated with personality traits in a meta-analysis of genome-wide association studies (N = 123,132-260,861). Of these genome-wide significant loci, extraversion was associated with variants in WSCD2 and near PCDH15, and neuroticism with variants on chromosome 8p23.1 and in L3MBTL2. We performed a principal component analysis to extract major dimensions underlying genetic variations among five personality traits and six psychiatric disorders (N = 5,422-18,759). The first genetic dimension separated personality traits and psychiatric disorders, except that neuroticism and openness to experience were clustered with the disorders. High genetic correlations were found between extraversion and attention-deficit- hyperactivity disorder (ADHD) and between openness and schizophrenia and bipolar disorder. The second genetic dimension was closely aligned with extraversion-introversion and grouped neuroticism with internalizing psychopathology (e.g., depression or anxiety).
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  • Muuri, E., et al. (author)
  • Behavior of Cs in Grimsel granodiorite: sorption on main minerals and crushed rock
  • 2016
  • In: Radiochimica Acta. - : Walter de Gruyter GmbH. - 0033-8230 .- 2193-3405. ; 104:8, s. 575-582
  • Journal article (peer-reviewed)abstract
    • In this study the sorption of cesium was investigated on four different minerals; quartz, plagioclase, potassium feldspar and biotite as well as granodiorite obtained from the Grimsel test site in Switzerland. The experiments were conducted in the presence of the weakly saline Grimsel groundwater simulant by determining the distribution coefficients using batch sorption experiments and PHREEQC-modelling across a large concentration range. In addition, the purity of the minerals was measured by XRD and the specific surface areas by BET method using krypton. The distribution coefficients of cesium were largest on biotite (0.304 +/- 0.005 m(3)/kg in 10(-8) M). Furthermore, the sorption of cesium on quartz was found to be negligibly small in all investigated concentrations and the sorption of cesium on potassium feldspar and plagioclase showed similar behavior against a concentration isotherm with distribution coefficients of 0.0368 +/- 0.0004 m(3)/kg and 0.18 +/- 0.04 m(3)/kg in 10(-8) M. Finally, cesium sorption behavior on crushed granodiorite followed the trend of one of its most abundant mineral, plagioclase with distribution coefficient values of 0.107 +/- 0.003m(3)/kg in 10-8 M. At low concentrations (< 1.0 . 10(-6) M) cesium was sorbed on the frayed edge sites of biotite and once these sites are fully occupied cesium sorbs additionally to the Type II and Planar sites. As a consequence, the sorption of cesium on biotite is decreased at concentrations > 1.0 . 10(-6) M. Secondly cesium sorption on potassium feldspar and plagioclase showed similar non-linear behavior with varying concentration. The results were used to assist the interpretation of cesium diffusion process in the 2.5 year in-situ experiment carried out in the underground laboratory at Grimsel test site in Switzerland (2007-2009).
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  • Porsbjerg, C., et al. (author)
  • Nordic consensus statement on the systematic assessment and management of possible severe asthma in adults
  • 2018
  • In: European Clinical Respiratory Journal. - : Informa UK Limited. - 2001-8525. ; 5:1
  • Journal article (peer-reviewed)abstract
    • Although a minority of asthma patients suffer from severe asthma, they represent a major clinical challenge in terms of poor symptom control despite high-dose treatment, risk of exacerbations, and side effects. Novel biological treatments may benefit patients with severe asthma, but are expensive, and are only effective in appropriately targeted patients. In some patients, symptoms are driven by other factors than asthma, and all patients with suspected severe asthma ('difficult asthma') should undergo systematic assessment, in order to differentiate between true severe asthma, and 'difficult-to-treat' patients, in whom poor control is related to factors such as poor adherence or co-morbidities. The Nordic Consensus Statement on severe asthma was developed by the Nordic Severe Asthma Network, consisting of members from Norway, Sweden, Finland, Denmark, Iceland and Estonia, including representatives from the respective national respiratory scientific societies with the aim to provide an overview and recommendations regarding the diagnosis, systematic assessment and management of severe asthma. Furthermore, the Consensus Statement proposes recommendations for the organization of severe asthma management in primary, secondary, and tertiary care.
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  • Smeland, Olav B., et al. (author)
  • Shared genetic variants between schizophrenia and general cognitive function indicate common molecular genetic mechanisms
  • 2017
  • In: European Neuropsychopharmacology. - : ELSEVIER SCIENCE BV. - 0924-977X .- 1873-7862. ; 27, s. S410-S410
  • Journal article (other academic/artistic)abstract
    • Background: Schizophrenia (SCZ) is a severe mental disorder characterized by widespread cognitive impairments including deficits in learning, memory, processing speed, attention and executive functioning. Although cognitive deficits are a strong predictor of functional outcome in SCZ, current treatment strategies largely fail to ameliorate these impairments. Thus, in order to develop more efficient treatment strategies in SCZ, a better understanding of the pathogenesis of these cognitive deficits is needed. Given that both SCZ and cognitive ability are substantially heritable, we here aimed to determine whether SCZ share genetic influences with general cognitive function (COG), a phenotype that captures the shared variation in performance across several cognitive domains. Methods: We analyzed GWAS results in the form of summary statistics (p-values and z-scores) from SCZ (the Psychiatric Genomics Consortium; n=82 315) and COG (CHARGE Consortium; n=53 949). We applied a conditional false discovery rate (FDR) framework. By leveraging SNP-associations in a secondary trait (SCZ or COG), the conditional FDR approach increases power to detect loci in the primary trait (COG or SCZ), regardless of the directions of allelic effects of the risk loci. We then applied the conjunction FDR to identify shared loci between the phenotypes. The conjunction FDR is defined as the maximum of the conditional FDRs for both directions, and we used an overall FDR threshold of 0.05. Results: To visualize pleiotropic enrichment, we constructed conditional Q-Q plots which indicate substantial polygenetic overlap between SCZ and COG. For progressively stringent p-value thresholds for SCZ SNPs, we found approximately 150-fold enrichment for COG. For progressively stringent p-value thresholds for COG SNPs, we found approximately 100-fold enrichment for SCZ. We then used the conjunction FDR and identified fourteen independent loci shared between SCZ and COG. The majority of the shared loci show inverse associations in SCZ and COG, in line with the observed cognitive dysfunction in SCZ. Discussion: Our preliminary findings indicate shared molecular genetic mechanisms between SCZ and COG, which may provide important new insights into the pathogenesis of cognitive dysfunction in SCZ.
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  • Suojalehto, H, et al. (author)
  • Transcriptomic Profiling of Adult-Onset Asthma Related to Damp and Moldy Buildings and Idiopathic Environmental Intolerance
  • 2021
  • In: International journal of molecular sciences. - : MDPI AG. - 1422-0067. ; 22:19
  • Journal article (peer-reviewed)abstract
    • A subset of adult-onset asthma patients attribute their symptoms to damp and moldy buildings. Symptoms of idiopathic environmental intolerance (IEI) may resemble asthma and these two entities overlap. We aimed to evaluate if a distinct clinical subtype of asthma related to damp and moldy buildings can be identified, to unravel its corresponding pathomechanistic gene signatures, and to investigate potential molecular similarities with IEI. Fifty female adult-onset asthma patients were categorized based on exposure to building dampness and molds during disease initiation. IEI patients (n = 17) and healthy subjects (n = 21) were also included yielding 88 study subjects. IEI was scored with the Quick Environmental Exposure and Sensitivity Inventory (QEESI) questionnaire. Inflammation was evaluated by blood cell type profiling and cytokine measurements. Disease mechanisms were investigated via gene set variation analysis of RNA from nasal biopsies and peripheral blood mononuclear cells. Nasal biopsy gene expression and plasma cytokine profiles suggested airway and systemic inflammation in asthma without exposure to dampness (AND). Similar evidence of inflammation was absent in patients with dampness-and-mold-related asthma (AAD). Gene expression signatures revealed a greater degree of similarity between IEI and dampness-related asthma than between IEI patients and asthma not associated to dampness and mold. Blood cell transcriptome of IEI subjects showed strong suppression of immune cell activation, migration, and movement. QEESI scores correlated to blood cell gene expression of all study subjects. Transcriptomic analysis revealed clear pathomechanisms for AND but not AAD patients. Furthermore, we found a distinct molecular pathological profile in nasal and blood immune cells of IEI subjects, including several differentially expressed genes that were also identified in AAD samples, suggesting IEI-type mechanisms.
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  • Widestrand, H., et al. (author)
  • Sorbing tracer experiments in a crystalline rock fracture at Aspo (Sweden) : 1. Experimental setup and microscale characterization of retention properties
  • 2007
  • In: Water resources research. - : American Geophysical Union (AGU). - 0043-1397 .- 1944-7973. ; 43:10
  • Journal article (peer-reviewed)abstract
    • [ 1] Mineralogical and retardation properties of rock materials responsible for water-rock interaction in in situ migration experiments with sorbing radioactive tracers were studied in laboratory experiments. The porosity was studied by water saturation measurements and the PMMA method was used for detailed porosity characterization of heterogeneity distributions and porosity profiles toward the fracture surface. Mylonite and altered diorite sampled in the rim zone of the fracture and representative bulk rock types were investigated by batch sorption measurements with crushed materials and through-diffusion and in-diffusion experiments in intact rock pieces. Autoradiography was used for visualization of in-diffusion profiles of sorbing tracers. The use of detailed porosity information and quantitative data on heterogeneity in porosity is shown to significantly improve the interpretation and evaluation of laboratory-scale diffusion experiments. We show through the combined approach of detailed porosity characterization and laboratory sorption and diffusion investigations that we can distinguish retention properties of bulk rock and altered rock and provide qualitative and quantitative data of heterogeneous rock properties that expand the possibility for including relevant processes in the interpretation of the results of in situ tracer tests.
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