565 research outputs found

    NILC-Metrix : assessing the complexity of written and spoken language in Brazilian Portuguese

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    This paper presents and makes publicly available the NILC-Metrix, a computational system comprising 200 metrics proposed in studies on discourse, psycholinguistics, cognitive and computational linguistics, to assess textual complexity in Brazilian Portuguese (BP). These metrics are relevant for descriptive analysis and the creation of computational models and can be used to extract information from various linguistic levels of written and spoken language. The metrics in NILC-Metrix were developed during the last 13 years, starting in 2008 with Coh-Metrix-Port, a tool developed within the scope of the PorSimples project. Coh-Metrix-Port adapted some metrics to BP from the Coh-Metrix tool that computes metrics related to cohesion and coherence of texts in English. After the end of PorSimples in 2010, new metrics were added to the initial 48 metrics of Coh-Metrix-Port. Given the large number of metrics, we present them following an organisation similar to the metrics of Coh-Metrix v3.0 to facilitate comparisons made with metrics in Portuguese and English. In this paper, we illustrate the potential of NILC-Metrix by presenting three applications: (i) a descriptive analysis of the differences between children's film subtitles and texts written for Elementary School I and II (Final Years); (ii) a new predictor of textual complexity for the corpus of original and simplified texts of the PorSimples project; (iii) a complexity prediction model for school grades, using transcripts of children's story narratives told by teenagers. For each application, we evaluate which groups of metrics are more discriminative, showing their contribution for each task

    Chromothripsis in healthy individuals affects multiple protein-coding genes and can result in severe congenital abnormalities in offspring

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    Chromothripsis represents an extreme class of complex chromosome rearrangements (CCRs) with major effects on chromosomal architecture. Although recent studies have associated chromothripsis with congenital abnormalities, the incidence and pathogenic effects of this phenomenon require further investigation. Here, we analyzed the genomes of three families in which chromothripsis rearrangements were transmitted from a mother to her child. The chromothripsis in the mothers resulted in completely balanced rearrangements involving 8-23 breakpoint junctions across three to five chromosomes. Two mothers did not show any phenotypic abnormalities, although 3-13 protein-coding genes were affected by breakpoints. Unbalanced but stable transmission of a subset of the derivative chromosomes caused apparently de novo complex copy-number changes in two children. This resulted in gene-dosage changes, which are probably responsible for the severe congenital phenotypes of these two children. In contrast, the third child, who has a severe congenital disease, harbored all three chromothripsis chromosomes from his healthy mother, but one of the chromosomes acquired de novo rearrangements leading to copy-number changes. These results show that the human genome can tolerate extreme reshuffling of chromosomal architecture, including breakage of multiple protein-coding genes, without noticeable phenotypic effects. The presence of chromothripsis in healthy individuals affects reproduction and is expected to substantially increase the risk of miscarriages, abortions, and severe congenital disease. © 2015 The American Society of Human Genetics

    Longitudinal brain volumetric changes during one year in non-elderly healthy adults: a voxel-based morphometry study

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    Previous cross-sectional magnetic resonance imaging (MRI) studies of healthy aging in young adults have indicated the presence of significant inverse correlations between age and gray matter volumes, although not homogeneously across all brain regions. However, such cross-sectional studies have important limitations and there is a scarcity of detailed longitudinal MRI studies with repeated measures obtained in the same individuals in order to investigate regional gray matter changes during short periods of time in non-elderly healthy adults. In the present study, 52 healthy young adults aged 18 to 50 years (27 males and 25 females) were followed with repeated MRI acquisitions over approximately 15 months. Gray matter volumes were compared between the two times using voxel-based morphometry, with the prediction that volume changes would be detectable in the frontal lobe, temporal neocortex and hippocampus. Voxel-wise analyses showed significant (P < 0.05, family-wise error corrected) relative volume reductions of gray matter in two small foci located in the right orbitofrontal cortex and left hippocampus. Separate comparisons for males and females showed bilateral gray matter relative reductions in the orbitofrontal cortex over time only in males. We conclude that, in non-elderly healthy adults, subtle gray matter volume alterations are detectable after short periods of time. This underscores the dynamic nature of gray matter changes in the brain during adult life, with regional volume reductions being detectable in brain regions that are relevant to cognitive and emotional processes

    Validation of miR-1228-3p as Housekeeping for MicroRNA Analysis in Liquid Biopsies from Colorectal Cancer Patients

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    BACKGROUND: Circulating microRNA (miRNA) analysis is a growing research field. However, it usually requires an endogenous control or housekeeping (HK) in order to normalize expression of specific miRNAs throughout different samples. Unfortunately, no adequate HK for circulating miRNA analysis is still known in the colorectal cancer (CRC) context whereas several have been suggested. Hence, our aims were to validate the previously suggested miR-1228-3p as HK for CRC studies, to compare its suitability with the widely used miR-16-5p, and to evaluate the influence of hemolysis on both miRNAs. METHODS: We analyzed by quantitative reverse-transcription polymerase chain reaction (qRT-PCR) the expression of miR-1228-3p, miR-16-5p and the spike-in cel-miR-39 in a set of 297 plasmas (92 CRC, 101 advanced adenomas -AA-, and 100 controls) and 213 serum samples (59 CRC, 74 AA and 80 controls). We also analyzed both miRNAs depending on the hemolysis degree in 7 plasmas and 31 serums. RESULTS: Levels of miR-1228-3p and miR-16-5p did not show significant differences between groups although miR-16-5p exhibited more variability in plasma and serum samples. Importantly, the combination of cel-miR-39 and miR-1228-3p was the most stable one. Moreover, we observed that miR-16-5p was significantly influenced by hemolysis in contrast with miR-1228-3p that exhibited no correlation with this confounding factor in both biofluids. CONCLUSION: MiR-1228-3p has been validated as an adequate endogenous control for circulating miRNA analysis in CRC and AA liquid biopsies

    Plasma MicroRNA Signature Validation for Early Detection of Colorectal Cancer

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    OBJECTIVES: Specific microRNA (miRNA) signatures in biological fluids can facilitate earlier detection of the tumors being then minimally invasive diagnostic biomarkers. Circulating miRNAs have also emerged as promising diagnostic biomarkers for colorectal cancer (CRC) screening. In this study, we investigated the performance of a specific signature of miRNA in plasma samples to design a robust predictive model that can distinguish healthy individuals from those with CRC or advanced adenomas (AA) diseases. METHODS: Case control study of 297 patients from 8 Spanish centers including 100 healthy individuals, 101 diagnosed with AA, and 96 CRC cases. Quantitative real-time reverse transcription was used to quantify a signature of miRNA (miRNA19a, miRNA19b, miRNA15b, miRNA29a, miRNA335, and miRNA18a) in plasma samples. Binary classifiers (Support Vector Machine [SVM] linear, SVM radial, and SVM polynomial) were built for the best predictive model. RESULTS: Area under receiving operating characteristic curve of 0.92 (95% confidence interval 0.871-0.962) was obtained retrieving a model with a sensitivity of 0.85 and specificity of 0.90, positive predictive value of 0.94, and negative predictive value of 0.76 when advanced neoplasms (CRC and AA) were compared with healthy individuals. CONCLUSIONS: We identified and validated a signature of 6 miRNAs (miRNA19a, miRNA19b, miRNA15b, miRNA29a, miRNA335, and miRNA18a) as predictors that can differentiate significantly patients with CRC and AA from those who are healthy. However, large-scale validation studies in asymptomatic screening participants should be conducted

    Medical imaging: Foundations and scope

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    Indexación: Scopus; Radalyc.En la actualidad es innegable la utilidad de las diversas modalidades de imagenología médica como apoyo clínico tanto en la generación de diagnósticos de un buen número de enfermedades como en la planeación de tratamientos tendientes a proporcionar una alternativa de solución a las personas que, por una u otra razón, manifiestan algún desequilibrio en su salud. Entre las modalidades imagenológicas que, frecuentemente, se utilizan en el ámbito médico se pueden mencionar: Ultrasonido (US), Resonancia Magnética (MRI), Tomografía Computarizada sencilla (CT) y multicapa (MSCT), Tomografía Computarizada por Emisión de Positrones (PET) y Tomografía Computarizada por Emisión de Fotones simples (SPECT). En este sentido, este artículo tiene como finalidad presentar una descripción ordenada, coherente y sistemática de cada una de las mencionadas modalidades y establecer la vinculación de la MSCT con situaciones clínicas íntimamente relacionadas con la anatomía cardiaca y procesos de hipertensión. La razón por la cual se hace énfasis en la MSCT es debido a que, por una parte, se cuenta con un número importante de bases de datos tanto de sujetos fisiológicos como de sujetos patológicos y, por la otra, que se tiene previsto presentar un conjunto de técnicas computacionales que serán exploradas en el desarrollo de futuras investigaciones en el contexto de aspectos anatómico-cardiológicos que influyen directa o indirectamente en la aparición, desarrollo y prevalencia de procesos hipertensivos.Nowdays, several forms of medical imaging are usefulness in clinical support for both diagnostics diseases generation and treatment planning designed to provide an alternative solution to people who, for one or another reason, manifest an imbalance in your health. Among the imaging modalities that frequently are used in the medical field may include: Ultrasound (US), magnetic resonance imaging (MRI), simple computed tomography (CT) and multilayer computed tomography (MSCT), CT positron emission tomography (PET) Computed tomography and single photon emission (SPECT). In this sense, this article presents an orderly, coherent and systematic description of these modalities and it establishes relationship with the MSCT modality and clinical situations closely related to cardiac anatomy and hypertension processes. The reason emphasis on MSCT is done is because, on the one hand, we have a large number of databases both physiological subjects and pathological subjects and, on the other, we plan to present a set of computational techniques that will be explored in future research, in the context of cardiologic anatomical aspects, with directly or indirectly influence in the emergence, development and prevalence of hypertensive processes.http://www.redalyc.org/articulo.oa?id=5594990700

    238U(n, γ) reaction cross section measurement with C 6D6 detectors at the n-TOF CERN facility

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    This is an Open Access article distributed under the terms of the Creative Commons Attribution License 2.0, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly citedThe radiative capture cross section of 238U is very important for the developing of new reactor technologies and the safety of existing ones. Here the preliminary results of the 238U(n,γ) cross section measurement performed at n-TOF with C6D6 scintillation detectors are presented, paying particular attention to data reduction and background subtraction.Peer reviewe

    The nucleosynthesis of heavy elements in Stars : The key isotope 25Mg

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    This is an Open Access article distributed under the terms of the Creative Commons Attribution License 2.0, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly citedWe have measured the radiative neutron-capture cross section and the total neutron-induced cross section of one of the most important isotopes for the s process, the 25Mg. The measurements have been carried out at the neutron time-of-flight facilities n-TOF at CERN (Switzerland) and GELINA installed at the EC-JRC-IRMM (Belgium). The cross sections as a function of neutron energy have been measured up to approximately 300 keV, covering the energy region of interest to the s process. The data analysis is ongoing and preliminary results show the potential relevance for the s process.Peer reviewe
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