41 research outputs found

    Genome-wide association study of hepatitis C virus- and cryoglobulin-related vasculitis

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    The host genetic basis of mixed cryoglobulin vasculitis is not well understood and has not been studied in large cohorts. A genome-wide association study was conducted among 356 hepatitis C virus (HCV) RNA-positive individuals with cryoglobulin-related vasculitis and 447 ethnically matched, HCV RNA-positive controls. All cases had both serum cryoglobulins and a vasculitis syndrome. A total of 899 641 markers from the Illumina HumanOmni1-Quad chip were analyzed using logistic regression adjusted for sex, as well as genetically determined ancestry. Replication of select single-nucleotide polymorphisms (SNPs) was conducted using 91 cases and 180 controls, adjusting for sex and country of origin. The most significant associations were identified on chromosome 6 near the NOTCH4 and MHC class II genes. A genome-wide significant association was detected on chromosome 6 at SNP rs9461776 (odds ratio=2.16, P=1.16E-07) between HLA-DRB1 and DQA1: this association was further replicated in additional independent samples (meta-analysis P=7.1 × 10(-9)). A genome-wide significant association with cryoglobulin-related vasculitis was identified with SNPs near NOTCH4 and MHC Class II genes. The two regions are correlated and it is difficult to disentangle which gene is responsible for the association with mixed cryoglobulinemia vasculitis in this extended major histocompatibility complex region

    Multi-ancestry fine mapping of interferon lambda and the outcome of acute hepatitis C virus infection

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    Clearance of acute infection with hepatitis C virus (HCV) is associated with the chr19q13.13 region containing the rs368234815 (TT/ΔG) polymorphism. We fine-mapped this region to detect possible causal variants that may contribute to HCV clearance. First, we performed sequencing of IFNL1-IFNL4 region in 64 individuals sampled according to rs368234815 genotype: TT/clearance (N = 16) and ΔG/persistent (N = 15) (genotype-outcome concordant) or TT/persistent (N = 19) and ΔG/clearance (N = 14) (discordant). 25 SNPs had a difference in counts of alternative allele >5 between clearance and persistence individuals. Then, we evaluated those markers in an association analysis of HCV clearance conditioning on rs368234815 in two groups of European (692 clearance/1 025 persistence) and African ancestry (320 clearance/1 515 persistence) individuals. 10/25 variants were associated (P < 0.05) in the conditioned analysis leaded by rs4803221 (P value = 4.9 × 10−04) and rs8099917 (P value = 5.5 × 10−04). In the European ancestry group, individuals with the haplotype rs368234815ΔG/rs4803221C were 1.7× more likely to clear than those with the rs368234815ΔG/rs4803221G haplotype (P value = 3.6 × 10−05). For another nearby SNP, the haplotype of rs368234815ΔG/rs8099917T was associated with HCV clearance compared to rs368234815ΔG/rs8099917G (OR: 1.6, P value = 1.8 × 10−04). We identified four possible causal variants: rs368234815, rs12982533, rs10612351 and rs4803221. Our results suggest a main signal of association represented by rs368234815, with contributions from rs4803221, and/or nearby SNPs including rs8099917

    A sea spray generation function for fetch-limited conditions

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    This paper presents a sea spray generation function for aerosols produced by bubbles bursting that accounts for the effects of fetch. This is achieved by introducing a fetch-dependent model for the whitecap fraction, which is valid for fetch-limited conditions, i.e. steady-state conditions of the wave field in the whitecap droplet flux derived by Monahan et al. (1986). The aerosol generation fluxes calculated by this method show an enhancement of the aerosol production with increasing fetch. However, the predicted generation fluxes are lower than those calculated by using the classical model for the whitecap fraction proposed by Monahan and O’Muircheartaigh (1980). The results are then compared to aerosol size distributions measured in a Mediterranean coastal site at various fetch lengths. The data confirm the role of fetch, through its influence on marine aerosol generation and subsequent particle dispersion. The aerosol size distributions are divided into &quot;fine&quot; and &quot;coarse&quot; fractions. Submicrometer particles decrease in concentration at larger fetch, while the concentrations of super micron aerosols increase with increasing fetch.Key words. Atmospheric composition and structure (aerosols and particles) Meteorology and atmospheric dynamics (waves and ties) Oceanography: physical (air-sea interactions

    Spectroscopic studies on cucumber mosaic virus and its isolated components

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    Spectroscopic studies on cucumber mosaic virus and its isolated component

    Studi strutturali su virus vegetali

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    Studi strutturali su virus vegetal

    Sea spray aerosol and wave energy dissipation in the surf zone

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    Results from a quantitative model for the prediction of the sea-salt mass flux produced in the surf zone are presented in this paper. The model relates the surf zone sea salt mass flux to the amount of wave energy dissipated in the surf zone. In order to apply this aerosol emission model, a wave numerical model is required to obtain estimates for the total wave energy dissipated in the surf zone, as well as for the width of the surf zone. In the present work, we show using different wave models that the aerosol emission model is not sensitive to the details of the formulation of the wave model, provided a clear definition for the width of surf zone is adopted and the calibration of the numerical models is properly done

    Endometrial cancer in elderly patients: histological features.

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    Objective: To evaluate the pathologic features of endometrial cancer in elderly patients and to compare the results with those of a cohort of younger patients.Methods: Pathologic findings of patients with endometrial cancer,surgically managed, were reviewed. The study population wasdivided in two groups according to patients age: Group 175years (n\ubc54) and Group 270 years (n\ubc108). All patients underwent radical abdominal hysterectomy-Piver I, bilateral adnexectomy systematic lymphadenectomy and peritoneal washing. The Mann-Whitney U test, the Fisher exact test and the Wilcoxon generalized test were utilized.Results: The median age was 77.5 years (75\u201489) and 52.5 years(39\u201470) in Group 1 and Group 2, respectively. Median follow-upwas 49 months (7\u2014161). The proportion of cases with histologicalStage I tumors was similar in the two groups (63% vs. 63.9%). The incidence of Stage IC (50% vs 10.2%, P<0.0001) and the absence of hyperplasia in the adjacent endometrium (77.8% vs 36.1%, P<0.0001) were significantly higher in group 1. The proportion of non-endometrioid tumors was 27.8% and 12% in Group 1 and Group 2 (P\ubc0.01), respectively. Grade 2 or 3 tumors were detected in 75.9% in group 1 compared with 42.6% in group 2 (P<0.0001). In older women with Stage I tumor overall survival was significantly lower in non-endometrioid compared to endometrioid hystotype (P\ubc0.0009). The survival rate was lower in Group 1 compared to Group 2 (P<0.0001).Conclusion: In elderly women, endometrial cancer is more frequently a non-endometrioid histotype, hystologically poorly differentiated and with a deeper myometrial invasion

    Characterization of aerosols above the Northern Adriatic Sea: Case studies of offshore and onshore wind conditions

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    Aerosol particles in coastal areas result from a complex mixing between sea spray aerosols locally generated at the sea surface by the wind-waves interaction processes and a continental component resulting from natural and/or anthropogenic sources. This paper presents a physical and chemical analysis of the aerosol data acquired from May to September 2014 in the Adriatic Sea. Aerosol distributions were measured on the Acqua Alta platform located 15 km off the coast of Venice using two Particle Measuring System probes and a chemical characterization was made using an Ion Chromatography analysis (IC). Our aim is to study both the sea-spray contribution and the anthropogenic influence in the coastal aerosol of this Mediterranean region. To this end, we focus on a comparison between the present data and the aerosol size distributions measured south of the French Mediterranean coast. For air masses of marine origin transported by southern winds on the French coast and by the Sirocco in the Adriatic, we note a good agreement between the concentrations of super-micrometer aerosols measured in the two locations. This indicates a similar sea surface production of sea-spray aerosols formed by bubble bursting processes in the two locations. In contrast, the results show larger concentrations of submicron particles in the North-Western Mediterranean compared to the Adriatic, which result probably from a larger anthropogenic background for marine conditions. In contrast, for a coastal influence, the chemical analysis presented in the present paper seems to indicate a larger importance of the anthropogenic impact in the Northern Adriatic compared to the North-Western Mediterranean
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