35 research outputs found

    Preoperative staging of colorectal cancer using virtual colonoscopy: correlation with surgical results

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    The aim of this study was to evaluate the clinical usefulness of computed tomography colonography (CTC) in the preoperative staging in patients with abdominal pain for occlusive colorectal cancer (CRC) and to compare the results of CTC with the surgical ones

    Zeolitized tuffs in pedotechnique for quarry restoration: evaluation of phytonutritional efficiency in ^AUP model horizons

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    A study was started aiming at assessing the suitability of zeolitized tuff as optimal mineral Human Transported Materials (HTMs) in pedotechnologies for quarry restoration

    Metabolic stress-induced microRNA and mRNA expression profiles of human fibroblasts

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    Metabolic and oxidative stresses induce physiological adaptation processes, disrupting a finely tuned, coordinated network of gene expression. To better understand the interplay between the mRNA and miRNA transcriptomes, we examined how two distinct metabolic stressors alter the expression profile of human dermal fibroblasts.Primary fibroblast cultures were obtained from skin biopsies of 17 healthy subjects. Metabolic stress was evoked by growing subcultured cells in glucose deprived, galactose enriched (GAL) or lipid reduced, cholesterol deficient (RL) media, and compared to parallel-cultured fibroblasts grown in standard (STD) medium. This was followed by mRNA expression profiling and assessment of >1000 miRNAs levels across all three conditions. The miRNA expression levels were subsequently correlated to the mRNA expression profile.Metabolic stress by RL and GAL both produced significant, strongly correlated mRNA/miRNA changes. At the single gene level four miRNAs (miR-129-3p, miR-146b-5p, miR-543 and miR-550a) showed significant and comparable expression changes in both experimental conditions. These miRNAs appeared to have a significant physiological effect on the transcriptome, as nearly 10% of the predicted targets reported changes at mRNA level. The two distinct metabolic stressors induced comparable changes in the miRNome profile, suggesting a common defensive response of the fibroblasts to altered homeostasis. The differentially expressed miR-129-3p, miR-146b-5p, miR-543 and miR-550a regulated multiple genes (e.g. NGEF, NOVA1, PDE5A) with region- and age-specific transcription in the human brain, suggesting that deregulation of these miRNAs might have significant consequences on CNS function. The overall findings suggest that analysis of stress-induced responses of peripheral fibroblasts, obtained from patients with psychiatric disorders is a promising avenue for future research endeavors. © 2013 Elsevier Inc

    Hundreds of variants clustered in genomic loci and biological pathways affect human height

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    Most common human traits and diseases have a polygenic pattern of inheritance: DNA sequence variants at many genetic loci influence the phenotype. Genome-wide association (GWA) studies have identified more than 600 variants associated with human traits, but these typically explain small fractions of phenotypic variation, raising questions about the use of further studies. Here, using 183,727 individuals, we show that hundreds of genetic variants, in at least 180 loci, influence adult height, a highly heritable and classic polygenic trait. The large number of loci reveals patterns with important implications for genetic studies of common human diseases and traits. First, the 180 loci are not random, but instead are enriched for genes that are connected in biological pathways (P = 0.016) and that underlie skeletal growth defects (P < 0.001). Second, the likely causal gene is often located near the most strongly associated variant: in 13 of 21 loci containing a known skeletal growth gene, that gene was closest to the associated variant. Third, at least 19 loci have multiple independently associated variants, suggesting that allelic heterogeneity is a frequent feature of polygenic traits, that comprehensive explorations of already-discovered loci should discover additional variants and that an appreciable fraction of associated loci may have been identified. Fourth, associated variants are enriched for likely functional effects on genes, being over-represented among variants that alter amino-acid structure of proteins and expression levels of nearby genes. Our data explain approximately 10% of the phenotypic variation in height, and we estimate that unidentified common variants of similar effect sizes would increase this figure to approximately 16% of phenotypic variation (approximately 20% of heritable variation). Although additional approaches are needed to dissect the genetic architecture of polygenic human traits fully, our findings indicate that GWA studies can identify large numbers of loci that implicate biologically relevant genes and pathways.

    Prevalencia de caries en primeros molares superiores permanentes utilizando el índice ICDAS

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    La caries dental es un proceso multifactorial, muy dinámico resultado de la desmineralización constante en la superficie dentaria que produce una pérdida de su contenido mineral dando como resultado, si el proceso no es revertido, en una lesión de caries. El primer molar permanente es una de las estructuras dentarias más importantes para el desarrollo de una oclusión fisiológica y una adecuada función masticatoria, por lo que estos dientes desempeñan un papel importante en el desarrollo y mantenimiento de una oclusión dentaria apropiada, es por eso que su preservación en boca es de primordial importancia. En el marco del diagnóstico precoz de la caries, se han desarrollado recientemente métodos de detección que incluyan las lesiones no cavitadas en esmalte. En ese sentido, el ICDAS es el resultado de la unificación de criterios predominantemente visual es que permiten la detección de la caries considerando las lesiones iniciales.Categoría: Trabajos de investigación.Facultad de Odontologí

    New genetic loci link adipose and insulin biology to body fat distribution.

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    Body fat distribution is a heritable trait and a well-established predictor of adverse metabolic outcomes, independent of overall adiposity. To increase our understanding of the genetic basis of body fat distribution and its molecular links to cardiometabolic traits, here we conduct genome-wide association meta-analyses of traits related to waist and hip circumferences in up to 224,459 individuals. We identify 49 loci (33 new) associated with waist-to-hip ratio adjusted for body mass index (BMI), and an additional 19 loci newly associated with related waist and hip circumference measures (P < 5 × 10(-8)). In total, 20 of the 49 waist-to-hip ratio adjusted for BMI loci show significant sexual dimorphism, 19 of which display a stronger effect in women. The identified loci were enriched for genes expressed in adipose tissue and for putative regulatory elements in adipocytes. Pathway analyses implicated adipogenesis, angiogenesis, transcriptional regulation and insulin resistance as processes affecting fat distribution, providing insight into potential pathophysiological mechanisms

    Oncoplastic Breast Consortium consensus conference on nipple-sparing mastectomy.

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    Purpose Indications for nipple-sparing mastectomy (NSM) have broadened to include the risk reducing setting and locally advanced tumors, which resulted in a dramatic increase in the use of NSM. The Oncoplastic Breast Consortium consensus conference on NSM and immediate reconstruction was held to address a variety of questions in clinical practice and research based on published evidence and expert panel opinion. Methods The panel consisted of 44 breast surgeons from 14 countries across four continents with a background in gynecology, general or reconstructive surgery and a practice dedicated to breast cancer, as well as a patient advocate. Panelists presented evidence summaries relating to each topic for debate during the in-person consensus conference. The iterative process in question development, voting, and wording of the recommendations followed the modified Delphi methodology. Results Consensus recommendations were reached in 35, majority recommendations in 24, and no recommendations in the remaining 12 questions. The panel acknowledged the need for standardization of various aspects of NSM and immediate reconstruction. It endorsed several oncological contraindications to the preservation of the skin and nipple. Furthermore, it recommended inclusion of patients in prospective registries and routine assessment of patient-reported outcomes. Considerable heterogeneity in breast reconstruction practice became obvious during the conference. Conclusions In case of conflicting or missing evidence to guide treatment, the consensus conference revealed substantial disagreement in expert panel opinion, which, among others, supports the need for a randomized trial to evaluate the safest and most efficacious reconstruction techniques

    “Alexa, please try to understand my accent”: reflections on the assumptions behind and expectations about Artificial Intelligence systems

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    We will be using Zoom for this webinar:&nbsp;https://cern.zoom.us/j/93534948408?pwd=cWZ1VDJuZjYrNS9BanRqY3JzMXZLUT09 Passcode: AI As a very early adopter of an Amazon Echo device, while living in the U.S., I discovered that even though I had been interacting with native English speakers for most of my adult life (including working as a diplomat in an English-speaking country) I was having serious difficulties making myself understood by Alexa – and, as I discovered soon afterwards, by Siri, Cortana and most other forms of AI-powered natural language processing systems. I soon realized that my not ridiculously thick, but still noticeable Italian accent was throwing these “intelligent”, English-speaking systems completely off the rails. I also learned that I was not alone in my pain: I met Irish, Australian, South African, Scottish people with the same communication problem. While this proved to be a great ice-breaker at cocktail parties, the experience led me to think more deeply about the assumptions that designers of Artificial Intelligence systems make, whether for speech recognition and natural language processing, or in other application domains. How was it possible that allegedly “intelligent” systems were not able to perform such a simple task? Or perhaps this task is actually not that simple, but given that most human beings are actually capable to “filter out” foreign accents of their interlocutors at a very early age, what does this tell us in terms of our expectations of what Artificial Intelligence systems can deliver? Furthermore, since language accent is often one key predictor of socio-economic background and status, what can this episode tell us about the way in which these AI systems are trained, and what are the assumptions that their designers are making about their users? Can this quite specific scenario teach us something more about the broader social, economic and political assumptions that AI system designers are (not) making, or should be making, and how? Please check this page for updates. During the seminar, in case of technical issues, we will&nbsp;post information here. Thank you! If you have any questions during the webinar please don't hesitate to type them in the Q and A box.&nbsp;They will be answered after the speaker has finished the talk. If you would like to ask a question orally or join in the discussion after the talk, please use the 'raise your hand' function and we will unmute your microphone. To be kept informed of KT Seminars please sign up at: http://cern.ch/go/F9cX Andrea Glorioso gave his personal views, which do not necessarily reflect the official positions of the European Commission.</p
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