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Departamento de Hematologia
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Centro de Investigação de Patobiologia Molecular
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  • Pediatric Neurology 10/2013; DOI:10.1016/j.pediatrneurol.2013.10.010
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    ABSTRACT: Cardiac mucosa (CM) of the adult, regardless its location, shares phenotypic characteristics with Barrett's epithelium, namely villin expression and a Barrett's pattern of cytokeratins 7 and 20 expression. As far as we know, the phenotypic profile of CM in children has not been studied. The objective was to evaluate the phenotypic profile of cardiac mucosa from the esophagogastric junction of children with reflux symptoms. Biopsies routinely performed at the esophagogastric junction of children submitted to upper-gastrointestinal endoscopy for complaints suggestive of reflux were retrieved from the archive and used for the purposes of this study. Biopsies were assessed for the presence of squamous epithelium, cardiac and oxyntic mucosa and intestinal metaplasia. Samples displaying both squamous and columnar epithelia were immunohistochemically evaluated for the presence of villin and sucrase-isomaltae and for the expression of cytokeratins 7 and 20. From the 42 biopsies samples retrieved, 30 had simultaneously squamous and columnar epithelia. Cardiac mucosa was present in 86.7% of the cases, and intestinal metaplasia was observed only in one (3.3%). Villin expression in cardiac mucosa was observed in 96% of the cases and a cytokeratins 7 and 20 Barrett's pattern in 73%. Sucrase-isomaltase and MUC2 were only expressed in the case with intestinal metaplasia. Cardiac mucosa was high prevalent in biopsies from the esophagogastric junction of children with reflux. As in adults, cardiac mucosa in children has an immunoprofile similar to Barrett's esophagus. For the first time, it was shown that pediatric cardiac mucosa frequently expresses villin.
    Diseases of the Esophagus 09/2013; 27(8). DOI:10.1111/dote.12142
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    ABSTRACT: Polymorphic variants in the 5p15, 6p12, 6p21, and 15q25 loci were demonstrated to potentially contribute to lung cancer carcinogenesis. Therefore, this study was performed to assess the role of those variants in non-small cell lung cancer (NSCLC) risk and prognosis in a Portuguese population. Blood from patients with NSCLC was prospectively collected. To perform an association study, DNA from these patients and healthy controls were genotyped for a panel of 19 SNPs using a Sequenom® MassARRAY platform. Kaplan-Meier curves were used to assess the overall survival (OS) and progression-free survival (PFS). One hundred and forty-four patients with NSCLC were successfully consecutively genotyped for the 19 SNPs. One SNP was associated with NSCLC risk: rs9295740 G/A. Two SNPs were associated with non-squamous histology: rs3024994 (VEGF intron 2) T/C and rs401681 C/T. Three SNPs were associated with response rate: rs3025035 (VEGF intron 7) C/T, rs833061 (VEGF -460) C/T and rs9295740 G/A. One SNP demonstrated an influence on PFS: rs401681 C/T at 5p15, p = 0.021. Four SNPs demonstrated an influence on OS: rs2010963 (VEGF +405 G/C), p = 0.042; rs3025010 (VEGF intron 5 C/T), p = 0.047; rs401681 C/T at 5p15, p = 0.046; and rs31489 C/A at 5p15, p = 0.029. Our study suggests that SNPs in the 6p12, 6p21, and 5p15 loci may serve as risk, predictive and prognostic NSCLC biomarkers. In the future, SNPs identified in the genomes of patients may improve NSCLC screening strategies and therapeutic management as well.
    PLoS ONE 09/2013; 8(9):e72373. DOI:10.1371/journal.pone.0072373


  • Address
    R. Prof. Lima Basto, 1099-023, Lisbon, Portugal
  • Head of Institution
    Francisco Ventura Ramos
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  • Phone
    +351 217229800
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Acta medica portuguesa 05/2012; 25(3):174-8.

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