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Navegando por Autor "Vermeulen-Serpa, Karina Marques"

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    Artigo
    Bioelectrical impedance vector analysis and phase angle on different oral zinc supplementation in eutrophic children: randomized triple-blind study
    (Nutrients, 2019) Lais, Lucia Leite; Vermeulen-Serpa, Karina Marques; Lopes, Márcia Marilia Gomes Dantas; Alves, Camila Xavier; Brito, Nara; Brandão Neto, José; Vale, Sancha Helena de Lima; Almeida, Maria das Graças; https://orcid.org/0000-0002-8061-7048
    The parameters derived from bioelectrical impedance, phase angle (PA) and bioelectrical impedance vector analysis (BIVA) have been associated with cell membrane integrity and body cell mass. Zinc is a micronutrient that exerts important structural functions and acts in maintaining cellular functionality. To evaluate cell integrity and body cell mass, PA and BIVA were evaluated in children orally supplemented with zinc at different concentrations. Anthropometric, bioelectrical (resistance and reactance) and serum zinc variables were collected from two randomized, triple-blind, controlled clinical trials. Sampling was composed of 71 children consisting of three groups: a control group who received a placebo and two experimental groups who received oral supplementation of 5 or 10 mg-Zn/day for three months. The three groups presented increases (p < 0.001) in the linear height and weight. In the group supplemented with 10 mg-Zn/day, there was an increase in reactance values (p = 0.036) and PA (p = 0.002), in addition to vector displacement (p < 0.001) in relation to the confidence ellipses. An increase in serum zinc concentration was found (p < 0.001) in all three groups. Whit this, the supplementation with 10 mg-Zn/day promotes changes in the integrity of the cell membrane associated with the increase in the cellular mass of healthy children.
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    Artigo
    Citocinas inflamatórias na distrofia muscular de Duchenne: uma revisão narrativa
    (Revista Eletrônica Acervo Saúde, 2021-12) Vale, Sancha Helena de Lima; Marinho, Kívia Maria Batista; Cunha, Thais Alves; Grilo, Evellyn Câmara; Miranda, Carolinne Thaisa de Oliveira Fernandes; Brandão-Neto, José; Vermeulen-Serpa, Karina Marques; https://orcid.org/0000-0002-0972-1678; https://orcid.org/0000-0002-9932-2338; https://orcid.org/0000-0001-7647-6572; https://orcid.org/0000-0003-0021-5741
    Objetivo: Descrever achados na literatura sobre os marcadores inflamatórios na Distrofia Muscular de Duchenne (DMD) e entender qual é a sua associação com a progressão da doença. Revisão bibliográfica: A DMD é uma miopatia genética grave, caracterizada por um comprometimento ortopédico, cardíaco e respiratório e que conduz a uma morte precoce do indivíduo. A inflamação possui atribuição fundamental na fisiopatologia da DMD. Elevados níveis de citocinas e marcadores inflamatórios, como o IL-1β, TNF-α,IL-6 e IL-17, ativadores e recrutadores de células inflamatórias, parecem ter relação com a progressão da doença. Considerações finais: Os níveis plasmáticos, teciduais e musculares de marcadores inflamatórios são descritos como elevados em relação a indivíduos saudáveis. A associação entre os marcadores inflamatórios e a progressão da DMD parece ser uma particularidade da doença. Entender esta relação é importante para o estabelecimento de novas abordagens terapêuticas voltadas à DMD. No entanto, ainda há escassez sobre o assunto na literatura. Reforçando a necessidade de mais estudos abordando a temática
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    Artigo
    Identification of NID1 as a novel candidate susceptibility gene for familial non-medullary thyroid carcinoma using whole-exome sequencing
    (Endocrine Connections, 2022-01-31) Vale, Sancha Helena de Lima; Mello, Luis Eduardo Barbalho de; Carneiro, Thaise Nayane Ribeiro; Araújo, Aline Neves; Alves, Camila Xavier; Galante, Pedro Alexandre Favoretto; Buzatto, Vanessa Candiotti; Almeida, Maria das Graças de; Vermeulen-Serpa, Karina Marques; Paiva, Fernando José de Pinto; Brandão-Netom, José; Cerutti, Janete Maria; https://orcid.org/0000-0002-0972-1678; https://orcid.org/0000-0002-4820-4155; https://orcid.org/0000-0003-0156-8274
    The genetics underlying non-syndromic familial non-medullary thyroid carcinoma (FNMTC) is still poorly understood. To identify susceptibility genes for FNMTC, we performed whole- exome sequencing (WES) in a Brazilian family affected by papillary thyroid carcinoma (PTC) in three consecutive generations. WES was performed in four affected and two unaffected family members. Manual inspection in over 100 previously reported susceptibility genes for FNMTC showed that no variants in known genes co-segregated with disease phenotype in this family. Novel candidate genes were investigated using PhenoDB and filtered using Genome Aggregation (gnomAD) and Online Archive of Brazilian Mutations (ABraOM) population databases. The missense variant p.Ile657Met in the NID1 gene was the only variant that co-segregated with the disease, while absent in unaffected family members and controls. The allele frequency for this variant was <0.0001 in the gnomAD and ABbraOM databases. In silico analysis predicted the variant to be deleterious or likely damaging to the protein function. Somatic mutations in NID1 gene were found in nearly 500 cases of different cancer subtypes in the intOGen platform. Immunohistochemistry analysis showed NID1 expression in PTC cells, while it was absent in normal thyroid tissue. Our findings were corroborated using data from the TCGA cohort. Moreover, higher expression of NID1 was associated with higher likelihood of relapse after treatment and N1b disease in PTCs from the TCGA cohort. Although replication studies are needed to better understand the role of this variant in the FNMTC susceptibility, the NID1 variant (c.1971T>G) identified in this study fulfills several criteria that suggest it as a new FNMTC predisposing gene
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