| 1. |
- Lopez-Isac, E, et al.
(författare)
-
GWAS for systemic sclerosis identifies multiple risk loci and highlights fibrotic and vasculopathy pathways
- 2019
-
Ingår i: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 10:1, s. 4955-
-
Tidskriftsartikel (refereegranskat)abstract
- Systemic sclerosis (SSc) is an autoimmune disease that shows one of the highest mortality rates among rheumatic diseases. We perform a large genome-wide association study (GWAS), and meta-analysis with previous GWASs, in 26,679 individuals and identify 27 independent genome-wide associated signals, including 13 new risk loci. The novel associations nearly double the number of genome-wide hits reported for SSc thus far. We define 95% credible sets of less than 5 likely causal variants in 12 loci. Additionally, we identify specific SSc subtype-associated signals. Functional analysis of high-priority variants shows the potential function of SSc signals, with the identification of 43 robust target genes through HiChIP. Our results point towards molecular pathways potentially involved in vasculopathy and fibrosis, two main hallmarks in SSc, and highlight the spectrum of critical cell types for the disease. This work supports a better understanding of the genetic basis of SSc and provides directions for future functional experiments.
|
|
| 2. |
|
|
| 3. |
|
|
| 4. |
- Orwelius, Lotti, et al.
(författare)
-
Sepsis patients do not differ in health-related quality of life compared with other ICU patients
- 2013
-
Ingår i: Acta Anaesthesiologica Scandinavica. - : Wiley-Blackwell. - 0001-5172 .- 1399-6576. ; 57:9, s. 1201-1205
-
Tidskriftsartikel (refereegranskat)abstract
- Introduction less thanbrgreater than less thanbrgreater thanThe aim of the present multicentre study is to assess health-related quality of life in patients with community-acquired sepsis, severe sepsis, or septic shock (CAS) 6 months after discharge from the intensive care unit (ICU) and to compare the health-related quality of life of the ICU survivors with CAS with ICU survivors with other ICU diagnoses. less thanbrgreater than less thanbrgreater thanMethods less thanbrgreater than less thanbrgreater thanProspective, multicentre study in nine combined medical and surgical ICUs in Portugal. Health-related quality of life was assessed 6 months after ICU stay, using EuroQol-5D (EQ-5D) mailed to patients. ICU-related factors were obtained from the local ICU database and the local database for the SACiUCI follow-up study. less thanbrgreater than less thanbrgreater thanResults less thanbrgreater than less thanbrgreater thanA total of 313 (52%) surviving patients answered the questionnaire, and of these 91 (29%) were admitted for CAS. There were no significant differences in health-related quality of life between the two study groups. less thanbrgreater than less thanbrgreater thanConclusion less thanbrgreater than less thanbrgreater thanPatients admitted to ICU for CAS did not perceived different health-related quality of life compared with ICU patients admitted for other diagnoses.
|
|
| 5. |
- Ulyanov, A., et al.
(författare)
-
Performance of a monolithic LaBr3 : Ce crystal coupled to an array of silicon photomultipliers
- 2016
-
Ingår i: Nuclear Instruments and Methods in Physics Research Section A. - : Elsevier BV. - 0168-9002 .- 1872-9576. ; 810:810, s. 107-119
-
Tidskriftsartikel (refereegranskat)abstract
- A gamma-ray detector composed of a single 28×28×20 mm3 LaBr3:Ce crystal coupled to a custom built 4×4 array of silicon photomultipliers was tested over an energy range of 30 keV to 9.3 MeV. The silicon photomultipliers were initially calibrated using 20 ns light pulses generated by a light emitting diode. The photodetector responses measured as a function of the number of incident photons were found to be non-linear and consistent with model predictions. Using corrections for the non-linearity of the silicon photomultipliers, the detector showed a linear response to gamma-rays with energies from 100 keV to the maximum available energy of 9.3 MeV. The energy resolution was found to be 4% FWHM at 662 keV. Despite the large thickness of the scintillator (20 mm) and a 5 mm thick optical window, the detector was capable of measuring the positions of the gamma-ray interaction points. The position resolution was measured at 356 keV and was found to be 8 mm FWHM in the detector plane and 11 mm FWHM for the depth of interaction. The detector can be used as a building block of a larger calorimeter system that is capable of measuring gamma-ray energies up to tens of MeV.
|
|
| 6. |
|
|
| 7. |
- Faux, Pierre, et al.
(författare)
-
Neanderthal introgression in SCN9A impacts mechanical pain sensitivity
- 2023
-
Ingår i: Communications Biology. - 2399-3642. ; 6:1
-
Tidskriftsartikel (refereegranskat)abstract
- The Nav1.7 voltage-gated sodium channel plays a key role in nociception. Three functional variants in the SCN9A gene (encoding M932L, V991L, and D1908G in Nav1.7), have recently been identified as stemming from Neanderthal introgression and to associate with pain symptomatology in UK BioBank data. In 1000 genomes data, these variants are absent in Europeans but common in Latin Americans. Analysing high-density genotype data from 7594 Latin Americans, we characterized Neanderthal introgression in SCN9A. We find that tracts of introgression occur on a Native American genomic background, have an average length of similar to 123kb and overlap the M932L, V991L, and D1908G coding positions. Furthermore, we measured experimentally six pain thresholds in 1623 healthy Colombians. We found that Neanderthal ancestry in SCN9A is significantly associated with a lower mechanical pain threshold after sensitization with mustard oil and evidence of additivity of effects across Nav1.7 variants. Our findings support the reported association of Neanderthal Nav1.7 variants with clinical pain, define a specific sensory modality affected by archaic introgression in SCN9A and are consistent with independent effects of the Neanderthal variants on Nav1.7 function. Neanderthal-derived variants in the SCN9A gene (encoding the voltage gated sodium channel, Nav1.7) are associated with enhanced experimental mechanical pain sensitivity in modern humans.
|
|
| 8. |
- Granja, C. D. S., et al.
(författare)
-
A quartz crystal resonator for cellular phenotyping
- 2020
-
Ingår i: Biosensors and Bioelectronics: X. - : Elsevier Ltd. - 2590-1370. ; 6
-
Tidskriftsartikel (refereegranskat)abstract
- Cell therapy manufacturing is limited by lack of online tools capable of realtime in-process monitoring, particularly of simultaneous changes in multiple orthogonal (mutually independent) parameters. Here, we studied changes in CD36 expression, number density and size (area) of erythroblasts through different stages of erythropoiesis in vitro using a quartz crystal resonator (QCR), integrated with a microscope, and flow cytometry in parallel. An analytical model was developed extending the Kanazawa-Gordon theory. Based on this model, independent correlations were established between changes in each QCR parameter, dissipation (ΔΓ) and resonance frequency (−Δf0), and CD36 expression (from flow cytometry) and cell area (from microscope). The correlation functions were used to derive an acoustic signature (−ΔΓ/Δf0) of the differentiation process that uniquely mapped the relative changes in CD36 expression and late-stage enucleation-related deviations. A method to quantify relative changes in cell area purely from the acoustic parameters was also proposed. This work demonstrated for the first time the potential of an electromechanical tool for online monitoring of concurrently varying orthogonal phenotypic parameters in cell therapy manufacturing.
|
|
| 9. |
- Gulyurtlu, Ibrahim, et al.
(författare)
-
PRODUCTION OF FINES DURING CO-COMBUSTION OF COAL WITH BIOMASS FUELS BY FRAGMENTATION AND ATTRITION
- 2005
-
Ingår i: Proceedings of the 8th International Conference on Circulating Fluidized Beds Hangzhou, China, May 10-13, 2005. - 7506274426 ; , s. 565-573
-
Konferensbidrag (refereegranskat)abstract
- Results are reported from a project funded by the RFCS Programme of the European Union. The aim is to investigate, experimentally and by modeling, the production of fine char and ash particles during co-combustion of coal with wastes and biofuels in circulating fluidized bed. Work was undertaken at installations of different scales. Polish and Colombian coals were base fuels. The additional fuels were two sewage sludges. Bed temperature, feeding system, sand particle size, devolatilisation behaviour and char burn-out were studied to verify their influence on the fine particle production. Modeling was also carried out to understand the mechanisms of fragmentation and attrition. Samples from bed and cyclone were collected to determine particle size distributions.
|
|
| 10. |
- Kozyrev, A., et al.
(författare)
-
A comparative study of LaBr3(Ce3+) and CeBr3 based gamma-ray spectrometers for planetary remote sensing applications
- 2016
-
Ingår i: Review of Scientific Instruments. - : AIP Publishing. - 0034-6748 .- 1089-7623. ; 87:8
-
Tidskriftsartikel (refereegranskat)abstract
- The recent availability of large volume cerium bromide crystals raises the possibility of substantially improving gamma-ray spectrometer limiting flux sensitivities over current systems based on the lanthanum tri-halides, e.g., lanthanum bromide and lanthanum chloride, especially for remote sensing, low-level counting applications or any type of measurement characterized by poor signal to noise ratios. The Russian Space Research Institute has developed and manufactured a highly sensitive gamma-ray spectrometer for remote sensing observations of the planet Mercury from the Mercury Polar Orbiter (MPO), which forms part of ESA’s BepiColombo mission. The Flight Model (FM) gamma-ray spectrometer is based on a 3-in. single crystal of LaBr3(Ce3+) produced in a separate crystal development programme specifically for this mission. During the spectrometers development, manufacturing, and qualification phases, large crystals of CeBr3 became available in a subsequent phase of the same crystal development programme. Consequently, the Flight Spare Model (FSM) gamma-ray spectrometer was retrofitted with a 3-in. CeBr3 crystal and qualified for space. Except for the crystals, the two systems are essentially identical. In this paper, we report on a comparative assessment of the two systems, in terms of their respective spectral properties, as well as their suitability for use in planetary mission with respect to radiation tolerance and their propensity for activation. We also contrast their performance with a Ge detector representative of that flown on MESSENGER and show that: (a) both LaBr3(Ce3+) and CeBr3 provide superior detection systems over HPGe in the context of minimally resourced spacecraft and (b) CeBr3 is a more attractive system than LaBr3(Ce3+) in terms of sensitivities at lower gamma fluxes. Based on the tests, the FM has now been replaced by the FSM on the BepiColombo spacecraft. Thus, CeBr3 now forms the central gamma-ray detection element on the MPO spacecraft. Published by AIP Publishing.
|
|
