91 research outputs found

    Decisiones en el Gobierno de la Universidad Pública Argentina. El Consejo Superior de la Universidad Nacional de San Luis

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    Los órganos de gobierno de las universidades argentinas están constituidos por cuerpos colegiados, cuyas decisiones tienen que ver con la vida académica de los universitarios. En este trabajo se analiza la dinámica en el tratamiento de los temas, tiempos, la conflictividad que generan y, particularmente, los tipos y modos de alianzas que se realizan entre quienes toman decisiones. Se propone un índice de coincidencias (ICG) que posibilita cuantificar los tipos de alianzas que se producen

    Molecular properties of human Guanylate Cyclase-Activating Protein 3 (GCAP3) and its possible association with Retinitis Pigmentosa

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    The cone-specific guanylate cyclase-activating protein 3 (GCAP3), encoded by the GUCA1C gene, has been shown to regulate the enzymatic activity of membrane-bound guanylate cyclases (GCs) in bovine and teleost fish photoreceptors, to an extent comparable to that of the paralog protein GCAP1. To date, the molecular mechanisms underlying GCAP3 function remain largely unexplored. In this work, we report a thorough characterization of the biochemical and biophysical properties of human GCAP3, moreover, we identified an isolated case of retinitis pigmentosa, in which a patient carried the c.301G>C mutation in GUCA1C, resulting in the substitution of a highly conserved aspartate residue by a histidine (p.(D101H)). We found that myristoylated GCAP3 can activate GC1 with a similar Ca2+-dependent profile, but significantly less efficiently than GCAP1. The non-myristoylated form did not induce appreciable regulation of GC1, nor did the p.D101H variant. GCAP3 forms dimers under physiological conditions, but at odds with its paralogs, it tends to form temperature-dependent aggregates driven by hydrophobic interactions. The peculiar properties of GCAP3 were confirmed by 2 ms molecular dynamics simulations, which for the p.D101H variant highlighted a very high structural flexibility and a clear tendency to lose the binding of a Ca2+ ion to EF3. Overall, our data show that GCAP3 has unusual biochemical properties, which make the protein significantly different from GCAP1 and GCAP2. Moreover, the newly identified point mutation resulting in a substantially unfunctional protein could trigger retinitis pigmentosa through a currently unknown mechanism

    Applicazione di un veloce metodo di estrazione del DNA per l’identificazione di prodotti ittici marini.

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    L'identificazione dei prodotti ittici è uno dei temi chiave in materia di sicurezza alimentare. L’errata etichettatura dei prodotti alimentari e la sostituzione di alcuni ingredienti rappresentano questioni emergenti in termini di qualità e sicurezza alimentare e nutrizionale. L'autenticazione e la tracciabilità dei prodotti alimentari, gli studi di tassonomia e di genetica di popolazione, così come l'analisi delle abitudini alimentari degli animali e la selezione delle prede, si basano su analisi genetiche tra cui la metodica molecolare del DNA barcoding, che consiste nell’amplificazione e nel sequenziamento di una specifica regione del gene mitocondriale chiamata COI. Questa tecnica biomolecolare è utilizzata per fronteggiare la richiesta di determinazione specifica e/o la reale provenienza dei prodotti commercializzati, nonché per smascherare errori di etichettatura e sostituzioni fraudolente, difficile da rilevare soprattutto nei prodotti ittici trasformati. Sul mercato sono disponibili differenti kit per l'estrazione del DNA da campioni freschi e conservati; l’impiego dei kit, aumenta drasticamente il costo dei progetti di caratterizzazione e di genotipizzazione dei campioni da analizzare. In questo scenario è stato messo a punto un metodo veloce di estrazione del DNA. Esso non prevede nessuna fase di purificazione per i prodotti ittici freschi e trasformati e si presta a qualsiasi analisi che preveda l’utilizzo della tecnica PCR. Il protocollo consente l'amplificazione efficiente del DNA da qualsiasi scarto industriale proveniente dalla lavorazione del pesce, indipendentemente dal metodo di conservazione del campione. L’applicazione di questo metodo di estrazione del DNA, combinato al successo e alla robustezza della amplificazione PCR (secondo protocollo barcode) ha permesso di ottenere, in tempi brevissimi e con costi minimi, il sequenziamento del DNA

    Autosomal dominant gyrate atrophy-like choroidal dystrophy revisited: 45 years follow-up and association with a novel C1QTNF5 missense variant

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    We present a long-term follow-up in autosomal dominant gyrate atrophy-like choroidal dystrophy (adGALCD) and propose a possible genotype/phenotype correlation. Ophthalmic examination of six patients from two families revealed confluent areas of choroidal atrophy resembling gyrate atrophy, starting in the second decade of life. Progression continued centrally, reaching the fovea at about 60 years of age. Subretinal deposits, retinal pigmentation or choroidal neovascularization as seen in late-onset retinal degeneration (LORD) were not observed. Whole genome sequencing revealed a novel missense variant in the C1QTNF5 gene (p.(Q180E)) which was found in heterozygous state in all affected subjects. Haplotype analysis showed that this variant found in both families is identical by descent. Three-dimensional modeling of the possible supramolecular assemblies of C1QTNF5 revealed that the p.(Q180E) variant led to the destabilization of protein tertiary and quaternary structures, affecting both the stability of the single protomer and the entire globular head, thus exerting detrimental effects on the formation of C1QTNF5 trimeric globular domains and their interaction. In conclusion, we propose that the p.(Q180E) variant causes a specific phenotype, adGALCD, that differs in multiple clinical aspects from LORD. Disruption of optimal cell-adhesion mechanisms is expected when analyzing the effects of the point mutation at the protein level

    Implant replacement and anaplastic large cell lymphoma associated with breast implants: a quantitative analysis

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    Breast implant-associated anaplastic large-cell lymphoma (BIAALCL) is a rare form of non-Hodgkin T-cell lymphoma associated with breast reconstruction post-mastectomy or cosmetic-additive mammoplasty. The increasing use of implants for cosmetic purposes is expected to lead to an increase in BIA-ALCL cases. This study investigated the main characteristics of the disease and the factors predicting BIA-ALCL onset in patients with and without an implant replacement

    DNA Barcoding as a tool for Zoological Taxonomy: Identification of bony fish in the Mediterranean Sea

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    The description of all the species present in nature is a vast task to be fulfilled by using the classical approach of morphological description of the organisms. In recent years, the traditional taxonomy, based primarily on identification keys of species, has shown a number of limitations in the use of the distinctive features in many animal taxa and inconsistencies with the genetic data. Furthermore, the increasing need to get a true estimate of biodiversity has led Zoological Taxonomy to seek new approaches and methodologies to support the traditional methods. The classification procedure has added modern criteriasuch as the evolutionary relationships and the genetic, biochemical and morphological characteristics of the organisms.Until now the Linnean binomial was the only abbreviated code associated with the description of the morphology of a species. The new technologies aim to achieve a short nucleotide sequence of the DNA to be used as an unique and solely label for a particular species, a specific genetic barcode. For both morphological and genetic approaches, skills and experience are required. Taxonomy is one of zoological disciplines that has been benefited from the achievements reached by modern molecular biotechnology. Using a molecular approach it is possible to identify cryptic species, to establish a family relationship between species and their membership of taxonomic categories or to reconstruct the evolutionary history of a taxon

    High 15-f-2t-isoprostane levels in patients with a previous history of nonmelanoma skin cancer: the effects of supplementary antioxidant therapy

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    Phase I of this study was aimed at comparing the profiles of oxidative stress biomarkers in patients with history of nonmelanoma skin cancer (NMSC), previously treated with surgery, to the healthy subjects. Phase II aimed to evaluate the effects of supplementary antioxidant therapy on the levels of biomarkers in the case group. In Phase I, oxidative stress biomarkers were measured in blood samples obtained from 24 healthy subjects and 60 patients with history of NMSC previously treated with surgery. In Phase II, the 60 patients with history of NMSC were randomized into two subgroups, one receiving placebo (n = 34) and the other (n = 26) receiving vitamin C, vitamin E, and zinc supplementation for 8 weeks, followed by reevaluation of biomarkers. Results. In Phase I, patients with history of NMSC showed increased plasma concentrations of all biomarkers, but only 15-F-2t-isoprostane was significantly higher than in the healthy subjects. Risk of NMSC increased by 4% for each additional 1 pg/mL increase in 15-F-2t-isoprostane. In Phase II, supplementation did not significantly reduce levels of oxidative stress biomarkers. Patients with history of NMSC had significantly high 15-F-2t-isoprostane plasma levels; supplementation did not result in significant reduction of oxidative stress biomarkers. This trial was registered with ClinicalTrials.gov (ID NCT02248584)2015CONSELHO NACIONAL DE DESENVOLVIMENTO CIENTÍFICO E TECNOLÓGICO - CNPQFUNDAÇÃO DE AMPARO À PESQUISA DO ESTADO DE SÃO PAULO - FAPESP482958/2011-1sem informaçã

    High 15-f2t-isoprostane Levels In Patients With A Previous History Of Nonmelanoma Skin Cancer: The Effects Of Supplementary Antioxidant Therapy.

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    Phase I of this study was aimed at comparing the profiles of oxidative stress biomarkers in patients with history of nonmelanoma skin cancer (NMSC), previously treated with surgery, to the healthy subjects. Phase II aimed to evaluate the effects of supplementary antioxidant therapy on the levels of biomarkers in the case group. In Phase I, oxidative stress biomarkers were measured in blood samples obtained from 24 healthy subjects and 60 patients with history of NMSC previously treated with surgery. In Phase II, the 60 patients with history of NMSC were randomized into two subgroups, one receiving placebo (n = 34) and the other (n = 26) receiving vitamin C, vitamin E, and zinc supplementation for 8 weeks, followed by reevaluation of biomarkers. In Phase I, patients with history of NMSC showed increased plasma concentrations of all biomarkers, but only 15-F2t-isoprostane was significantly higher than in the healthy subjects. Risk of NMSC increased by 4% for each additional 1 pg/mL increase in 15-F2t-isoprostane. In Phase II, supplementation did not significantly reduce levels of oxidative stress biomarkers. Patients with history of NMSC had significantly high 15-F2t-isoprostane plasma levels; supplementation did not result in significant reduction of oxidative stress biomarkers. This trial was registered with ClinicalTrials.gov (ID NCT02248584).201596356
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