Search results for "locu"
showing 10 items of 751 documents
International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways
2015
Primary biliary cirrhosis (PBC) is a classical autoimmune liver disease for which effective immunomodulatory therapy is lacking. Here we perform meta-analyses of discovery data sets from genome-wide association studies of European subjects (n=2,764 cases and 10,475 controls) followed by validation genotyping in an independent cohort (n=3,716 cases and 4,261 controls). We discover and validate six previously unknown risk loci for PBC (Pcombined<5 × 10−8) and used pathway analysis to identify JAK-STAT/IL12/IL27 signalling and cytokine–cytokine pathways, for which relevant therapies exist.
Genome-wide meta-analyses identify three loci associated with primary biliary cirrhosis.
2010
A genome-wide association screen for primary biliary cirrhosis risk alleles was performed in an Italian cohort. The results from the Italian cohort replicated IL12A and IL12RB associations, and a combined meta-analysis using a Canadian dataset identified newly associated loci at SPIB (P = 7.9 × 10−11, odds ratio (OR) = 1.46), IRF5-TNPO3 (P = 2.8 × 10−10, OR = 1.63) and 17q12-21 (P = 1.7 × 10−10, OR = 1.38).
Divenire minoranza, il trattamento della follia in età borbonica. L’Ospizio di Santa Teresa di Palermo (XIX secolo)
2022
Interessanti spunti riguardanti il trattamento della follia si ricavano dal contesto siciliano all’inizio del XIX secolo, periodo in cui si perfeziona il controllo sociale da parte delle istituzioni. Nello specifico, si vuole qui proporre il caso dell’Ospizio di Santa Teresa di Palermo, l’ex noviziato dei Teresiani Scalzi poco fuori le mura della città di Palermo, istituto adibito nel 1802, durante il soggiorno forzato della corte borbonica in Sicilia e il protettorato inglese, al contenimento dei cosiddetti «incurabili», cioè di qualsiasi minaccia che potesse interferire o interagire con la società sana del tempo. Interesting insights into the treatment of madness are to be gained from the…
Incomplete sequence homogenization in 45S rDNA multigene families: intermixed IGS heterogeneity within the single NOR locus of the polyploid species …
2014
† Background and Aims Ribosomal sequences have become the classical example of the genomic homogenization of nuclear multigene families. Despite theoretical advantages and modelling predictions that support concerted evolution of the 45S rDNA, several reports have found intragenomic polymorphisms. However, the origins and causes of these rDNA polymorphisms are difficult to assess because seed plants show a wide range of 45S rDNA loci number variation, especially in polyploids. Medicago arborea is a tetraploid species that has a single 45S rDNA locus. This feature makes this species a suitable case study to assess the fate of ribosomal IGS homogenization in polyploid species showing nucleolu…
Deus ex machina: una frana
2020
Sull'uso odierno della locuzione "deus ex machina": estensioni semantiche
Reliability and Intersession Agreement of Microperimetric and Fixation Measurements Obtained with a New Microperimeter in Normal Eyes.
2015
Purpose: To evaluate the reliability and intersession agreement of measurements of retinal sensitivity as well as of the fixation pattern obtained in healthy eyes with a microperimeter integrating the mechanism of the scanning laser ophthalmoscope (SLO) with the static perimetry. Methods: This study included a sample of 44 healthy eyes of 44 subjects of a mean age of 27.0 ± 8.5 years. In all cases, microperimetric exams with the MAIA system (Centervue, Padova, Italy) were performed in three different sessions to evaluate the intersession repeatability. The consistency of measurements was analyzed by using the Friedman test and by analyzing the correlation between consecutive measurements. A…
Identification of Cpgp40/15 Type Ib as the Predominant Allele in Isolates of Cryptosporidium spp. from a Waterborne Outbreak of Gastroenteritis in So…
2006
ABSTRACT Cryptosporidium sp. isolates from a waterborne outbreak of diarrhea in France were analyzed by PCR-restriction fragment length polymorphism analysis and sequencing of the Cpgp40/15 locus. Ninety-one percent of the isolates were Cryptosporidium hominis type Ib. The results of this study and those of studies of other outbreaks suggest that the type Ib allele is the predominant allele associated with waterborne cryptosporidiosis.
A follow-up study of a genome-wide association scan identifies a susceptibility locus for venous thrombosis on chromosome 6p24.1.
2010
International audience; To identify genetic susceptibility factors conferring increased risk of venous thrombosis (VT), we conducted a multistage study, following results of a previously published GWAS that failed to detect loci for developing VT. Using a collection of 5862 cases with VT and 7112 healthy controls, we identified the HIVEP1 locus on chromosome 6p24.1 as a susceptibility locus for VT. Indeed, the HIVEP1 rs169713C allele was associated with an increased risk for VT, with an odds ratio of 1.20 (95% confidence interval 1.13-1.27, p = 2.86 x 10(-9)). HIVEP1 codes for a protein that participates in the transcriptional regulation of inflammatory target genes by binding specific DNA …
Using a Multi-Locus Microsatellite Typing method improved phylogenetic distribution of Candida albicans isolates but failed to demonstrate associatio…
2012
EA MERS CT3 Enjeu 3; International audience; The dimorphic yeast Candida albicans is a component of the normal microflora at the mucosal surfaces of healthy individuals. It possesses an array of phenotypic properties considered as virulence traits that contribute to pathogenicity of the yeast in immuno-compromised patients. We addressed the question of the pathogenicity of lineages of C. albicans with regard to their genotype in three series of C. albicans isolates (a series of commensal isolates collected in healthy individuals, a group of bloodstream isolates and a group of non-bloodstream clinical isolates) using a Multi-Locus Microsatellite Typing (MLMT) approach based on the analysis o…