University of Palermo

About: University of Palermo is a education organization based out in Palermo, Italy. It is known for research contribution in the topics: Population & Medicine. The organization has 15621 authors who have published 40250 publications receiving 964384 citations. The organization is also known as: Università degli Studi di Palermo & Universita degli Studi di Palermo.

CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia

Abstract: Achromatopsia is a congenital, autosomal recessively inherited disorder characterized by a lack of color discrimination, low visual acuity (<0.2), photophobia, and nystagmus. Mutations in the genes for CNGA3, CNGB3, and GNAT2 have been associated with this disorder. Here, we analyzed the spectrum and prevalence of CNGB3 gene mutations in a cohort of 341 independent patients with achromatopsia. In 163 patients, CNGB3 mutations could be identified. A total of 105 achromats carried apparent homozygous mutations, 44 were compound (double) heterozygotes, and 14 patients had only a single mutant allele. The derived CNGB3 mutation spectrum comprises 28 different mutations including 12 nonsense mutations, eight insertions and/or deletions, five putative splice site mutations, and three missense mutations. Thus, the majority of mutations in the CNGB3 gene result in significantly altered and/or truncated polypeptides. Several mutations were found recurrently, in particular a 1 bp deletion, c.1148delC, which accounts for over 70% of all CNGB3 mutant alleles. In conclusion, mutations in the CNGB3 gene are responsible for approximately 50% of all patients with achromatopsia. This indicates that the CNGB3/ACHM3 locus on chromosome 8q21 is the major locus for achromatopsia in patients of European origin or descent.

Market Impact and Trading Profile of Hidden Orders in Stock Markets

Abstract: We empirically study the market impact of trading orders. We are specifically interested in large trading orders that are executed incrementally, which we call hidden orders. These are statistically reconstructed based on information about market member codes using data from the Spanish Stock Market and the London Stock Exchange. We find that market impact is strongly concave, approximately increasing as the square root of order size. Furthermore, as a given order is executed, the impact grows in time according to a power law; after the order is finished, it reverts to a level of about 0.5–0.7 of its value at its peak. We observe that hidden orders are executed at a rate that more or less matches trading in the overall market, except for small deviations at the beginning and end of the order.

A new eco-friendly chemical treatment of natural fibres: Effect of sodium bicarbonate on properties of sisal fibre and its epoxy composites

Abstract: Several researchers have shown how sisal fibres possess remarkable tensile properties that yield them good candidates as reinforcement in biocomposite materials. This work aims to evaluate the effect of an eco-friendly and cost effective surface treatment method based on the use of commercial sodium bicarbonate (i.e. baking soda) on properties of sisal fibre and its epoxy composites. In particular, raw sisal fibres were treated with a 10%w/w of sodium bicarbonate solution for different periods (24, 120 and 240 h), at room temperature. Changes occurring in sisal fibres were characterized through scanning electron microscope, Fourier transform infrared spectroscopy, thermogravimetric analysis and helium pycnometer analysis. The mechanical characterization of sisal fibre was carried out through single fibre tensile tests and a reliability analysis of the experimental data was performed. A mathematical model was also applied to investigate the relation between the transverse dimension of the fibres and their tensile properties. Interfacial adhesion of sisal fibre with an epoxy matrix was investigated using single fibre pull out technique. Moreover, to deeper investigate the effect of the proposed treatment, epoxy based composites reinforced with short randomly oriented sisal fibres were manufactured and characterized by means of quasi-static flexural tests. The experimental results showed that 120 h is the optimum time for treating sisal fibre to achieve highest interfacial adhesion and mechanical properties with epoxy matrix.

Overexpression of interleukin-23, but not interleukin-17, as an immunologic signature of subclinical intestinal inflammation in ankylosing spondylitis

Abstract: Objective Subclinical gut inflammation is common in spondylarthritis, but the immunologic abnormalities underlying this process are undefined. Perturbation of the interleukin-23 (IL-23)/Th17 axis has emerged as a fundamental trigger of chronic inflammation. This study was undertaken to investigate the expression and tissue distribution of IL-23/Th17–related molecules in Crohn's disease (CD) and in subclinical gut inflammation in ankylosing spondylitis (AS). Methods Quantitative gene expression analysis of Th1/Th2 and IL-23/Th17 responses was performed in intestinal biopsy samples obtained from 12 patients with CD, 15 patients with AS, and 13 controls. IL-23 tissue distribution and identification of IL-23–producing cells were evaluated by immunohistochemistry. Results We demonstrated a strong and significant up-regulation of IL-23p19 transcripts in the terminal ileum in patients with AS and patients with CD. IL-23 was abundantly produced by infiltrating monocyte-like cells in inflamed mucosa from AS and CD patients. Notably, we also identified Paneth cells as a major source of IL-23 in patients with AS, patients with CD, and normal controls. Unlike CD, in AS patients, IL-23 was not associated with up-regulation of IL-17 and the IL-17–inducing cytokines IL-6 and IL-1β. Finally, while the Th1-related cytokines interferon-γ, IL-12p35, and IL-27p28 were overexpressed only in CD patients, IL-4, IL-5, and STAT-6 were also significantly increased in AS patients. Conclusion Our findings indicate that overexpression of IL-23, but not IL-17, is a pivotal feature of subclinical gut inflammation in AS. Identification of resident Paneth cells as a pivotal source of IL-23 in physiologic and pathologic conditions strongly suggests that IL-23 is a master regulator of gut mucosal immunity, providing a pathophysiologic significance to the reported association between IL-23 receptor polymorphisms and intestinal inflammation.