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Träfflista för sökning "WFRF:(Heikinheimo M.) "

Search: WFRF:(Heikinheimo M.)

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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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  • Munk, P., et al. (author)
  • Genomic analysis of sewage from 101 countries reveals global landscape of antimicrobial resistance
  • 2022
  • In: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 13:1
  • Journal article (peer-reviewed)abstract
    • Antimicrobial resistance (AMR) is a major threat to global health. Understanding the emergence, evolution, and transmission of individual antibiotic resistance genes (ARGs) is essential to develop sustainable strategies combatting this threat. Here, we use metagenomic sequencing to analyse ARGs in 757 sewage samples from 243 cities in 101 countries, collected from 2016 to 2019. We find regional patterns in resistomes, and these differ between subsets corresponding to drug classes and are partly driven by taxonomic variation. The genetic environments of 49 common ARGs are highly diverse, with most common ARGs carried by multiple distinct genomic contexts globally and sometimes on plasmids. Analysis of flanking sequence revealed ARG-specific patterns of dispersal limitation and global transmission. Our data furthermore suggest certain geographies are more prone to transmission events and should receive additional attention.
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  • Heikinheimo, K, et al. (author)
  • The Mutational Profile of Unicystic Ameloblastoma.
  • 2018
  • In: Journal of Dental Research. - : Sage Publications. - 0022-0345 .- 1544-0591. ; 98:1, s. 54-60
  • Journal article (peer-reviewed)abstract
    • BRAF V600E is the most common mutation in conventional ameloblastoma (AM) of the mandible. In contrast, maxillary AMs appear to harbor more frequently RAS, FGFR2, or SMO mutations. Unicystic ameloblastoma (UAM) is considered a less aggressive variant of ameloblastoma, amenable to more conservative treatment, and classified as a distinct entity. The aim of this study was to characterize the mutation profile of UAM ( n = 39) and to compare it to conventional AM ( n = 39). The associations between mutation status and recurrence probability were also analyzed. In the mandible, 94% of UAMs (29/31, including 8/8 luminal, 6/8 intraluminal, and 15/15 mural subtypes) and 74% of AMs (28/38) revealed BRAF V600E mutations. Among the BRAF wild-type cases, 1 UAM showed a missense SMO mutation (p.L412F), whereas 2 NRAS (p.Q61R), 2 HRAS (p.Q61R), and 2 FGFR2 (p.C383R) activating mutations were identified in AM. Of the 3 maxillary UAMs, only 1 revealed a BRAF V600E mutation. Taken together, our findings demonstrate high frequency of activating BRAF V600E mutations in both UAM and AM of the mandible. In maxillary UAMs, the BRAF V600E mutation prevalence appears to be lower as was shown for AM previously. It could therefore be argued that UAM and AM are part of the spectrum of the same disease. AMs without BRAF V600E mutations were associated with an increased rate of local recurrence ( P = 0.0003), which might indicate that routine mutation testing also has an impact on prognosis.
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  • Langstrom, S, et al. (author)
  • Haematopoietic Stem Cell Transplantation in Children Shifts the Coagulation System towards a Pro-Coagulant State
  • 2018
  • In: Thrombosis and haemostasis. - : Georg Thieme Verlag KG. - 2567-689X .- 0340-6245. ; 118:8, s. 1390-1396
  • Journal article (peer-reviewed)abstract
    • Coagulation system is disturbed by several mechanisms after allogeneic haematopoietic stem cell transplantation (HSCT). We evaluated the effect of HSCT on coagulation system by various conventional and investigational methods in 30 children and adolescents who received HSCT due to haematological malignancies. Pro-thrombin fragment 1 + 2, a specific measure of thrombin generation, and von Willebrand factor, a measure of endothelial activation, increased after conditioning treatment, and remained elevated until 3 months after HSCT (p < 0.05 for all comparisons to pre-conditioning treatment). D-dimer, a measure of fibrin turnover, was elevated from the second week onwards until 4 weeks after HSCT (p < 0.05). Endogenous thrombin potential was increased after conditioning, and at 2 weeks after HSCT (p < 0.05). Furthermore, the activities of acute phase reactants fibrinogen and coagulation factor VIII were increased (p < 0.05 for all comparisons to pre-conditioning treatment) from the first week onwards up to 3 weeks and 3 months after HSCT, respectively. Taken together, paediatric patients receiving HSCT demonstrate distinct and prolonged variations in the coagulation system towards a pro-coagulant state. This shift is of importance when estimating the risk of haemostatic and thrombotic complications in these children.
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  • Mannisto, J, et al. (author)
  • In Reply
  • 2017
  • In: Obstetrics and gynecology. - 1873-233X. ; 129:5, s. 944-945
  • Journal article (peer-reviewed)
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  • Gottschalk, L, et al. (author)
  • Scale aggregation - comparison of flux estimates from NOPEX
  • 1999
  • In: AGRICULTURAL AND FOREST METEOROLOGY. - : ELSEVIER SCIENCE BV. - 0168-1923. ; 98-9, s. 103-119
  • Journal article (peer-reviewed)abstract
    • The NOPEX two concentrated field efforts (CFEs) (June 1994 and April-July 1995) provide high quality data sets for the Boreal environment. The analysis of these data with traditional meteorological and hydrological approaches allow estimations of fluxes o
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  • Halonen, P, et al. (author)
  • Lichen sclerosus and risk of cancer
  • 2017
  • In: International journal of cancer. - : Wiley. - 1097-0215 .- 0020-7136. ; 140:9, s. 1998-2002
  • Journal article (peer-reviewed)
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  • Starflinger, J., et al. (author)
  • Results of the mid-term assessment of the "high performance light water reactor phase 2" project
  • 2009
  • In: International Congress on Advances in Nuclear Power Plants 2009, ICAPP 2009. - : Atomic Energy Society of Japan. - 9781617386084 ; , s. 501-511
  • Conference paper (peer-reviewed)abstract
    • The High Performance Light Water Reactor (HPLWR) is a Light Water Reactor (LWR) operating at supercritical pressure (p>22.1 MPa). In Europe, investigations on the HPLWR have been integrated into a joint research project, called High Performance Light Water Reactor Phase 2 (HPLWR Phase 2), which is co-funded by the European Commission. Within the second year of the project, the design of the reactor core, the pressure vessel and its internals have been analysed in detail by means of advanced codes and methods. The mechanical design has been assessed and shows that stresses inside components and possible deformations keep within acceptable limits. The neutronics and the flow inside the core have been investigated. The addition of a water layer in the reflector helps to flatten the radial power profile. The moderator flow path must be changed because of possible reverse flow in the gaps between the assemblies (downward flow). First calculations of transients showed an acceptable behaviour of the cladding temperatures. Material oxidation experiments were successfully performed. The auxiliary loop of the Supercritical Water Loop has been constructed. Heat transfer has been investigated numerically analysing heat transfer deterioration (HTD) and flow around fuel pins with wire wrap spacers.
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  • Bengtsson-Palme, Johan, 1985, et al. (author)
  • Towards monitoring of antimicrobial resistance in the environment: For what reasons, how to implement it, and what are the data needs?
  • 2023
  • In: Environment International. - 0160-4120 .- 1873-6750. ; 178
  • Journal article (peer-reviewed)abstract
    • Antimicrobial resistance (AMR) is a global threat to human and animal health and well-being. To understand AMR dynamics, it is important to monitor resistant bacteria and resistance genes in all relevant settings. How-ever, while monitoring of AMR has been implemented in clinical and veterinary settings, comprehensive monitoring of AMR in the environment is almost completely lacking. Yet, the environmental dimension of AMR is critical for understanding the dissemination routes and selection of resistant microorganisms, as well as the human health risks related to environmental AMR. Here, we outline important knowledge gaps that impede implementation of environmental AMR monitoring. These include lack of knowledge of the 'normal' background levels of environmental AMR, definition of high-risk environments for transmission, and a poor understanding of the concentrations of antibiotics and other chemical agents that promote resistance selection. Furthermore, there is a lack of methods to detect resistance genes that are not already circulating among pathogens. We conclude that these knowledge gaps need to be addressed before routine monitoring for AMR in the environment can be implemented on a large scale. Yet, AMR monitoring data bridging different sectors is needed in order to fill these knowledge gaps, which means that some level of national, regional and global AMR surveillance in the envi-ronment must happen even without all scientific questions answered. With the possibilities opened up by rapidly advancing technologies, it is time to fill these knowledge gaps. Doing so will allow for specific actions against environmental AMR development and spread to pathogens and thereby safeguard the health and wellbeing of humans and animals.
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  • Result 1-50 of 80

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