56 research outputs found

    Triplet-based similarity score for fully multilabeled trees with poly-occurring labels

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    Motivation: The latest advances in cancer sequencing, and the availability of a wide range of methods to infer the evolutionary history of tumors, have made it important to evaluate, reconcile and cluster different tumor phylogenies. Recently, several notions of distance or similarities have been proposed in the literature, but none of them has emerged as the golden standard. Moreover, none of the known similarity measures is able to manage mutations occurring multiple times in the tree, a circumstance often occurring in real cases. Results: To overcome these limitations, in this article, we propose MP3, the first similarity measure for tumor phylogenies able to effectively manage cases where multiple mutations can occur at the same time and mutations can occur multiple times. Moreover, a comparison of MP3 with other measures shows that it is able to classify correctly similar and dissimilar trees, both on simulated and on real data

    Common Genetic Polymorphisms Influence Blood Biomarker Measurements in COPD

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    Implementing precision medicine for complex diseases such as chronic obstructive lung disease (COPD) will require extensive use of biomarkers and an in-depth understanding of how genetic, epigenetic, and environmental variations contribute to phenotypic diversity and disease progression. A meta-analysis from two large cohorts of current and former smokers with and without COPD [SPIROMICS (N = 750); COPDGene (N = 590)] was used to identify single nucleotide polymorphisms (SNPs) associated with measurement of 88 blood proteins (protein quantitative trait loci; pQTLs). PQTLs consistently replicated between the two cohorts. Features of pQTLs were compared to previously reported expression QTLs (eQTLs). Inference of causal relations of pQTL genotypes, biomarker measurements, and four clinical COPD phenotypes (airflow obstruction, emphysema, exacerbation history, and chronic bronchitis) were explored using conditional independence tests. We identified 527 highly significant (p 10% of measured variation in 13 protein biomarkers, with a single SNP (rs7041; p = 10−392) explaining 71%-75% of the measured variation in vitamin D binding protein (gene = GC). Some of these pQTLs [e.g., pQTLs for VDBP, sRAGE (gene = AGER), surfactant protein D (gene = SFTPD), and TNFRSF10C] have been previously associated with COPD phenotypes. Most pQTLs were local (cis), but distant (trans) pQTL SNPs in the ABO blood group locus were the top pQTL SNPs for five proteins. The inclusion of pQTL SNPs improved the clinical predictive value for the established association of sRAGE and emphysema, and the explanation of variance (R2) for emphysema improved from 0.3 to 0.4 when the pQTL SNP was included in the model along with clinical covariates. Causal modeling provided insight into specific pQTL-disease relationships for airflow obstruction and emphysema. In conclusion, given the frequency of highly significant local pQTLs, the large amount of variance potentially explained by pQTL, and the differences observed between pQTLs and eQTLs SNPs, we recommend that protein biomarker-disease association studies take into account the potential effect of common local SNPs and that pQTLs be integrated along with eQTLs to uncover disease mechanisms. Large-scale blood biomarker studies would also benefit from close attention to the ABO blood group

    The relationship between customers and community pharmacies during the covid-19 (Sars-cov-2) pandemic: A survey from italy

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    Community pharmacies are among the most easily accessible health services. Considering the major impact of COVID-19 in social terms, the purpose was to analyse the evolution of the relationship between community pharmacies and customers during the pandemic in 2020 and to understand which strategies should be implemented in the future. The data have been collected from May to December 2020. Pharmacists administered a questionnaire, also available online, to all customers that agreed to participate. The total number of respondents was 502. The results obtained confirm a generally high level of satisfaction with pharmacies among customers and appreciation for the role of community pharmacies. For the future, the priority is to monitor the situation to break down social inequalities. A task that can be entrusted to the branch of the healthcare service ideally suited to this end: local medicine, of which the community pharmacy is an essential element. The post-pandemic pharmacy will need to have the skills to provide accurate and reliable information on issues, including broad topics such as prevention and lifestyle to fight “syndemic” (two or more factors that work together to make a disease worse) and “infodemic” (too much information including false or misleading information during a disease outbreak)

    Clinical and molecular heterogeneity in carbonic anhydrase II deficiency and prenatal diagnosis in italian family

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    Conférence d'Iwona Kurz "Propaganda pictures and Afterimages", 26/01

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    Ce jeudi, 26 janvier, de 16h Ă  18h, une confĂ©rence spĂ©ciale a lieu Ă  l'IHTP (59 rue Pouchet, 75017). La chercheuse polonaise, Iwona Kurz, fera une intervention sur le thĂšme suivant : "Propaganda Pictures and Afterimages. Visual Memory of Auschwitz in Poland" Year 1989 makes a borderline for many changes and phenomena of Polish culture. It marks also shift in common memory resulting both from new perspectives in politics of the state and from universal factors, most of all – time. Memory ..
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