Non-HFE Hepatic Iron Overload.

Numerous clinical entities have now been identified to cause pathologic iron accumulation in the liver. Some are well described and have a verified hereditary basis; in others the genetic basis is still speculative, while in several cases nongenetic iron-loading factors are apparent. The non-HFE hemochromatosis syndromes identifies a subgroup of hereditary iron loading disorders that share with classic HFE-hemochromatosis, the autosomal recessive trait, the pathogenic basis (i.e., lack of hepcidin synthesis or activity), and key clinical features. Yet, they are caused by pathogenic mutations in other genes, such as transferrin receptor 2 (TFR2), hepcidin (HAMP), hemojuvelin (HJV), and ferroportin (FPN), and, unlike HFE-hemochromatosis, are not restricted to Caucasians. Ferroportin disease, the most common non-HFE hereditary iron-loading disorder, is caused by a loss of iron export function of FPN resulting in early and preferential iron accumulation in Kupffer cells and macrophages with high ferritin levels and low-to-normal transferrin saturation. This autosomal dominant disorder has milder expressivity than hemochromatosis. Other much rarer genetic disorders are associated with hepatic iron load, but the clinical picture is usually dominated by symptoms and signs due to failure of other organs (e. g., anemia in atransferrinemia or neurologic defects in aceruloplasminemia). Finally, in the context of various necro-inflammatory or disease processes (i.e., chronic viral or metabolic liver diseases), regional or local iron accumulation may occur that aggravates the clinical course of the underlying disease or limits efficacy of therapy

A new well-balanced non-oscillatory central scheme for the shallow water equations on rectangular meshes

This paper is concerned with the development of high-order well-balanced central schemes to solve the shallow water equations in two spatial dimensions. A Runge Kutta scheme is applied for time discretization. A Gaussian quadrature rule is used to evaluate time integrals and a three-degree polynomial which calculates point-values or flux values. A new procedure has been defined to evaluate the flux integrals and to approach the 2D source term integrals in order to verify the exact C-property, using the water surface elevation instead of the water depth as a variable. Numerical experiments have confirmed the high-resolution properties of our numerical scheme in 2D test problems.This work was partially funded by the "Programa de Apoyo a la Investigacion y Desarrollo" (PAID-06-10) and (PAID-05-12) of the Universidad Politecnica de Valencia. Angel Balaguer-Beser thanks the support of the Spanish Ministry of Education and Science in the framework of the Projects CGL2009-14220-C02-01 and CGL2010-19591. The authors express their gratitude to the anonymous reviewers for their helpful comments.Capilla Romá, MT.; Balaguer Beser, ÁA. (2013). A new well-balanced non-oscillatory central scheme for the shallow water equations on rectangular meshes. Journal of Computational and Applied Mathematics. 252:62-74. https://doi.org/10.1016/j.cam.2013.01.014S627425

#Bieber + #Blast = #BieberBlast: Early Prediction of Popular Hashtag Compounds

Compounding of natural language units is a very common phenomena. In this paper, we show, for the first time, that Twitter hashtags which, could be considered as correlates of such linguistic units, undergo compounding. We identify reasons for this compounding and propose a prediction model that can identify with 77.07% accuracy if a pair of hashtags compounding in the near future (i.e., 2 months after compounding) shall become popular. At longer times T = 6, 10 months the accuracies are 77.52% and 79.13% respectively. This technique has strong implications to trending hashtag recommendation since newly formed hashtag compounds can be recommended early, even before the compounding has taken place. Further, humans can predict compounds with an overall accuracy of only 48.7% (treated as baseline). Notably, while humans can discriminate the relatively easier cases, the automatic framework is successful in classifying the relatively harder cases.Comment: 14 pages, 4 figures, 9 tables, published in CSCW (Computer-Supported Cooperative Work and Social Computing) 2016. in Proceedings of 19th ACM conference on Computer-Supported Cooperative Work and Social Computing (CSCW 2016

Ag/mgo nanoparticles via gas aggregation nanocluster source for perovskite solar cell engineering

Nanocluster aggregation sources based on magnetron-sputtering represent precise and versatile means to deposit a controlled quantity of metal nanoparticles at selected interfaces. In this work, we exploit this methodology to produce Ag/MgO nanoparticles (NPs) and deposit them on a glass/FTO/TiO2 substrate, which constitutes the mesoscopic front electrode of a monolithic perovskite-based solar cell (PSC). Herein, the Ag NP growth through magnetron sputtering and gas aggregation, subsequently covered with MgO ultrathin layers, is fully characterized in terms of structural and morphological properties while thermal stability and endurance against air-induced oxidation are demonstrated in accordance with PSC manufacturing processes. Finally, once the NP coverage is optimized, the Ag/MgO engineered PSCs demonstrate an overall increase of 5% in terms of device power conversion efficiencies (up to 17.8%)

Comparison of organochlorine chemical body burdens of female breast cancer cases with cancer free women in Rio Grande do Sul, Brazil--Pilot Study

This pilot study collected preliminary data to examine known and suspected breast cancer risk factors among women living in rural and urban areas in the state of Rio Grande do Sul, Brazil by questionnaire. In addition, the body burden levels of a panel of organochlorines was measured in a small clinic-based prospective sample

Recurrent NF1 gene variants and their genotype/phenotype correlations in patients with Neurofibromatosis type I

Neurofibromatosis type I, a genetic condition due to pathogenic variants in the NF1 gene, is burdened by a high rate of complications, including neoplasms, which increase morbidity and mortality for the disease. We retrospectively re-evaluated the NF1 gene variants found in the period 2000\u20132019 and we studied for genotype/phenotype correlations of disease complications and neoplasms 34 variants, which were shared by at least two unrelated families (range 2\u201311) for a total 141 of probands and 21 relatives affected by Neurofibromatosis type I. Recurrent variants could be ascribed to the most common mutational mechanisms (C to T transition, microsatellite slippage, non-homologous recombination). In genotype/phenotype correlations, the variants p.Arg440*, p.Tyr489Cys, and p.Arg1947*, together with the gross gene deletions, displayed the highest rates of complications. When considering neoplasms, carriers of variants falling in the extradomain region at the 5\u2032 end of NF1 had a lower age-related cancer frequency than the rest of the gene sequence, showing a borderline significance (p = 0.045), which was not conserved after correction with covariates. We conclude that (1) hotspots in NF1 occur via different mutational mechanisms, (2) several variants are associated with high rates of complications and cancers, and (3) there is an initial evidence toward a lower cancer risk for carriers of variants in the 5\u2032 end of the NF1 gene although not significant at the multivariate analysis

Antiretroviral therapy initiation alters the redox system of asymptomatic HIV-Infected individuals

Background. The combination antiretroviral therapy (cART) increases the oxidative stress in HIV-infected people, which in turn favors the onset and aggravation of non-AIDS comorbidities, a common situation affecting these individuals. We aimed to evaluate the influence of cART initiation on oxidative stress parameters. This is a longitudinal study including 30 asymptomatic patients divided according to their CD4+ T cell count (G1: 500 cell/mL) before (M0) and after (M1) cART initiation. We analyzed total antioxidant capacity (TAC), fat-soluble vitamins, malondialdehyde, 8-isoprostane, and DNA damage. Results. Results showed a decrease in TAC, retinol, \u3b1-tocopherol, and some carotenoids, in addition to a significant increase in DNA damage at M1. These changes were more evident in G2 subjects. Moreover, there was a significant 8-isoprostane increase at M1 in individuals belonging to G1. Conclusion. The results indicate that cART interfered in the redox system, mainly by reducing the antioxidant defenses. In addition, patients who had CD4+ T counts higher than 500 cells/mm3 showed more susceptibility to genotoxicity, while patients with less CD4+ T counts displayed more damage triggered by lipoperoxidation. Considering the early beginning of cART, its chronic use, and its capacity to alter the redox status, further long-term studies on larger cohorts are needed to define the best time to initiate therapy and to investigate new strategies to delay the development of non-AIDS diseases