30 research outputs found

    Encapsulated high temperature PCM as active filler material in a thermocline-based thermal storage system

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    A great concern in Concentrated Solar Power (CSP) is to boost energy harvesting systems, by finding materials with enhanced thermal performance. Phase Change Materials (PCM) have emerged as a promising option, due to their high thermal storage density compared to sensible storage materials currently used in CSP. A thermal storage system for solar power plants is proposed, a thermocline tank with PCM capsules together with filler materials, based on multi-layered solid-PCM (MLSPCM) thermocline-like storage tank concept [1,2]. A detailed selection of the most suitable high temperature PCM, their containment materials and encapsulation methods are shown

    Evidence of association of the NLRP1 gene with giant cell arteritis

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    Recent studies have focused attention on the involvement of NLRP1 to confer susceptibility for extended autoimmune/inflammatory disorders, being considered a common risk factor in autoimmunity. NLRP1 provides a scaffold for the assembly of the inflammasome that activates caspases 1 and 5, required for processing and activation of the proinflammatory cytokines interleukin 1β (IL-1β), IL-18 and IL-33 and promoting inflammation

    Identification of the PTPN22 functional variant R620W as susceptibility genetic factor for giant cell arteritis

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    Objective: To analyse the role of the PTPN22 and CSK genes, previously associated with autoimmunity, in the predisposition and clinical phenotypes of giant cell arteritis (GCA). Methods: Our study population was composed of 911 patients diagnosed with biopsy-proven GCA and 8136 unaffected controls from a Spanish discovery cohort and three additional independent replication cohorts from Germany, Norway and the UK. Two functional PTPN22 polymorphisms (rs2476601/R620W and rs33996649/R263Q) and two variants of the CSK gene (rs1378942 and rs34933034) were genotyped using predesigned TaqMan assays. Results: The analysis of the discovery cohort provided evidence of association of PTPN22 rs2476601/R620W with GCA (PFDR=1.06E-04, OR=1.62, CI 95% 1.29 to 2.04). The association did not appear to follow a specific GCA subphenotype. No statistically significant differences between allele frequencies for the other PTPN22 and CSK genetic variants were evident either in the case/control or in stratified case analysis. To confirm the detected PTPN22 association, three replication cohorts were genotyped, and a consistent association between the PTPN22 rs2476601/R620W variant and GCA was evident in the overall meta-analysis (PMH=2.00E-06, OR=1.51, CI 95% 1.28 to 1.79). Conclusions: Our results suggest that the PTPN22 polymorphism rs2476601/R620W plays an important role in the genetic risk to GCA

    Analysis of the common genetic component of large-vessel vasculitides through a meta- Immunochip strategy

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    Giant cell arteritis (GCA) and Takayasu's arteritis (TAK) are major forms of large-vessel vasculitis (LVV) that share clinical features. To evaluate their genetic similarities, we analysed Immunochip genotyping data from 1,434 LVV patients and 3,814 unaffected controls. Genetic pleiotropy was also estimated. The HLA region harboured the main disease-specific associations. GCA was mostly associated with class II genes (HLA-DRB1/HLA-DQA1) whereas TAK was mostly associated with class I genes (HLA-B/MICA). Both the statistical significance and effect size of the HLA signals were considerably reduced in the cross-disease meta-analysis in comparison with the analysis of GCA and TAK separately. Consequently, no significant genetic correlation between these two diseases was observed when HLA variants were tested. Outside the HLA region, only one polymorphism located nearby the IL12B gene surpassed the study-wide significance threshold in the meta-analysis of the discovery datasets (rs755374, P?=?7.54E-07; ORGCA?=?1.19, ORTAK?=?1.50). This marker was confirmed as novel GCA risk factor using four additional cohorts (PGCA?=?5.52E-04, ORGCA?=?1.16). Taken together, our results provide evidence of strong genetic differences between GCA and TAK in the HLA. Outside this region, common susceptibility factors were suggested, especially within the IL12B locus

    A genome-wide association study identifies risk alleles in plasminogen and P4HA2 associated with giant cell arteritis

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    Giant cell arteritis (GCA) is the most common form of vasculitis in individuals older than 50 years in Western countries. To shed light onto the genetic background influencing susceptibility for GCA, we performed a genome-wide association screening in a well-powered study cohort. After imputation, 1,844,133 genetic variants were analysed in 2,134 cases and 9,125 unaffected controls from ten independent populations of European ancestry. Our data confirmed HLA class II as the strongest associated region (independent signals: rs9268905, P = 1.94E-54, per-allele OR = 1.79; and rs9275592, P = 1.14E-40, OR = 2.08). Additionally, PLG and P4HA2 were identified as GCA risk genes at the genome-wide level of significance (rs4252134, P = 1.23E-10, OR = 1.28; and rs128738, P = 4.60E-09, OR = 1.32, respectively). Interestingly, we observed that the association peaks overlapped with different regulatory elements related to cell types and tissues involved in the pathophysiology of GCA. PLG and P4HA2 are involved in vascular remodelling and angiogenesis, suggesting a high relevance of these processes for the pathogenic mechanisms underlying this type of vasculitis

    A Large-Scale Genetic Analysis Reveals a Strong Contribution of the HLA Class II Region to Giant Cell Arteritis Susceptibility

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    We conducted a large-scale genetic analysis on giant cell arteritis (GCA), a polygenic immune-mediated vasculitis. A case-control cohort, comprising 1,651 case subjects with GCA and 15,306 unrelated control subjects from six different countries of European ancestry, was genotyped by the Immunochip array. We also imputed HLA data with a previously validated imputation method to perform a more comprehensive analysis of this genomic region. The strongest association signals were observed in the HLA region, with rs477515 representing the highest peak (p = 4.05 × 10−40, OR = 1.73). A multivariate model including class II amino acids of HLA-DRβ1 and HLA-DQα1 and one class I amino acid of HLA-B explained most of the HLA association with GCA, consistent with previously reported associations of classical HLA alleles like HLA-DRB1∗04. An omnibus test on polymorphic amino acid positions highlighted DRβ1 13 (p = 4.08 × 10−43) and HLA-DQα1 47 (p = 4.02 × 10−46), 56, and 76 (both p = 1.84 × 10−45) as relevant positions for disease susceptibility. Outside the HLA region, the most significant loci included PTPN22 (rs2476601, p = 1.73 × 10−6, OR = 1.38), LRRC32 (rs10160518, p = 4.39 × 10−6, OR = 1.20), and REL (rs115674477, p = 1.10 × 10−5, OR = 1.63). Our study provides evidence of a strong contribution of HLA class I and II molecules to susceptibility to GCA. In the non-HLA region, we confirmed a key role for the functional PTPN22 rs2476601 variant and proposed other putative risk loci for GCA involved in Th1, Th17, and Treg cell function

    Concepto, forma y longitud de los términos preferentes del tesauro: una propuesta de indicadores de calidad [Concept, form and length of the thesaurus preferred terms: a proposal for quality indicators]

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    In order to evaluate concept, form and length of thesaurus preferred terms, four indicators are proposed: 1) percentage of preferred terms designating more than one concept, 2) mean of words per preferred term, 3) percentage of preferred terms with non standard grammatical forms, and 4) percentage of preferred terms with non standard singular and plural forms. A test was carried out on three thesauri, showing nonconformities regarding the four indicators. We conclude that the proposed indicators can be useful for quality evaluation of thesaurus design and development

    Concepto, forma y longitud de los términos preferentes del tesauro: una propuesta de indicadores de calidad

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    In order to evaluate concept, form and length of thesaurus preferred terms, four indicators are proposed: 1) percentage of preferred terms designating more than one concept, 2) mean of words per preferred term, 3) percentage of preferred terms with non standard grammatical forms, and 4) percentage of preferred terms with non standard singular and plural forms. A test was carried out on three thesauri, showing nonconformities regarding the four indicators. We conclude that the proposed indicators can be useful for quality evaluation of thesaurus design and development.Para evaluar la calidad de conceptos, forma y longitud de los términos preferentes de un tesauro se proponen cuatro indicadores: 1) porcentaje de términos preferentes que designan más de un concepto, 2) media de palabras por término preferente, 3) porcentaje de términos preferentes con formas gramaticales no especificadas, 4) porcentaje de términos preferentes con formas de singular y plural no especificadas. Se realizó una prueba de aplicación sobre tres tesauros, que mostró no conformidades respecto a los cuatro indicadores. Se concluye que los indicadores propuestos pueden ser útiles para la evaluación de la calidad del diseño y desarrollo de tesauros

    Concept, form and length of the thesaurus preferred terms: a proposal for quality indicators.

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    Para evaluar la calidad de conceptos, forma y longitud de los términos preferentes de un tesauro se proponen cuatro indicadores: 1) porcentaje de términos preferentes que designan más de un concepto, 2) media de palabras por término preferente, 3) porcentaje de términos preferentes con formas gramaticales no especificadas, 4) porcentaje de términos preferentes con formas de singular y plural no especificadas. Se realizó una prueba de aplicación sobre tres tesauros, que mostró no conformidades respecto a los cuatro indicadores. Se concluye que los indicadores propuestos pueden ser útiles para la evaluación de la calidad del diseño y desarrollo de tesauros.ABSTRACT: In order to evaluate concept, form and length of thesaurus preferred terms, four indicators are proposed: 1) percentage of preferred terms designating more than one concept, 2) mean of words per preferred term, 3) percentage of preferred terms with non standard grammatical forms, and 4) percentage of preferred terms with non standard singular and plural forms. A test was carried out on three thesauri, showing nonconformities regarding the four indicators. We conclude that the proposed indicators can be useful for quality evaluation of thesaurus design and developmen

    Concepto, forma y longitud de los términos preferentes del tesauro: una propuesta de indicadores de calidad

    No full text
    Para evaluar la calidad de conceptos, forma y longitud de los términos preferentes de un tesauro se proponen cuatro indicadores: 1) porcentaje de términos preferentes que designan más de un concepto, 2) media de palabras por término preferente, 3) porcentaje de términos preferentes con formas gramaticales no especificadas, 4) porcentaje de términos preferentes con formas de singular y plural no especificadas. Se realizó una prueba de aplicación sobre tres tesauros, que mostró no conformidades respecto a los cuatro indicadores. Se concluye que los indicadores propuestos pueden ser útiles para la evaluación de la calidad del diseño y desarrollo de tesauros
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