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649 results on '"Scariot, Rafaela"'

3. BMP2 rs1005464 is associated with mandibular condyle size variation

Author

Marañón-Vásquez, Guido Artemio, de Souza Araújo, Mônica Tirre, de Oliveira Ruellas, Antônio Carlos, Matsumoto, Mírian Aiko Nakane, Figueiredo, Marcio, Meyfarth, Sandra Regina Santos, Antunes, Lívia Azeredo Alves, Baratto-Filho, Flares, Scariot, Rafaela, Flores-Mir, Carlos, Kirschneck, Christian, Santos Antunes, Leonardo, and Küchler, Erika Calvano

Published
2024
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6. Analysis of genetic polymorphism and expression of SOX2 in oral leukoplakia: a case-control study

Author

Scheifer, Suelen Teixeira, Michels, Arieli Carini, Modolo, Filipe, Carla dos Santos, Emanuela, Scariot, Rafaela, Aguiar, Maria Cassia Ferreira, Ignácio, Sergio Aparecido, de Noronha, Lucia, Martins, Laysa Toschi, Frigeri, Henrique Ravanhol, de Souza, Cleber Machado, Jham, Bruno Correia, Marins, Mariana Hornung, and Johann, Aline Cristina Batista Rodrigues

Published
2025
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17. Polymorphisms and dental age in non-syndromic cleft lip and palate: a cross-sectional study.

Author

Fonseca-Souza, Gabriela, Alves-Souza, Lhorrany, de Menezes-Oliveira, Maria Angélica Hueb, Daratsianos, Nikolaos, Beisel-Memmert, Svenja, Kirschneck, Christian, Scariot, Rafaela, Feltrin-Souza, Juliana, and Küchler, Erika Calvano

Subjects
TRANSFORMING growth factors-beta, EPIDERMAL growth factor, SINGLE nucleotide polymorphisms, EPIDERMAL growth factor receptors, CLEFT lip
Abstract

Background: Children with non-syndromic cleft lip with or without palate (CL ± P) may present alterations in dental development. The purpose of this cross-sectional study was to compare the dental age (DA) between children with and without CL ± P, and whether single nucleotide polymorphisms (SNPs) in genes encoding growth factors are associated with DA variations. Methods: Children aged between 5 and 14 years with and without CL ± P were recruited to participate in this study. DA was evaluated by calibrated examiners (kappa > 0.80) using the method proposed by Demirjian et al. (1973). Genomic DNA was extracted from buccal cells, and SNPs in Epidermal Growth Factor (EGF) – rs4444903 and rs2237051, Epidermal Growth Factor Receptor (EGFR) – rs2227983 –, Transforming Growth Factor Beta 1 (TGFB1) – rs1800470 and rs4803455 –, and Transforming Growth Factor Beta Receptor 2 (TGFBR2) – rs3087465 – were genotyped by real-time polymerase chain reactions using the TaqMan assay. The Student T-test was used to compare the variations in DA between the phenotypes "with CL ± P" and "without CL ± P", and the ANOVA two-way test was performed to compare the variations in DA among the genotypes (α = 0.05). A post-hoc analysis was performed using Bonferroni correction. Results: Two hundred and nine (n = 209) children (100 with CL ± P and 109 without CL ± P) with a mean chronological age of 8.66 years – standard deviation (SD) = 1.92 – were included. The group with CL ± P demonstrated a significantly delayed DA (mean=-0.23; SD = 0.71) compared to the group without CL ± P (mean=-0.01; SD = 0.88) (p = 0.049). Genotype distributions were in Hardy-Weinberg equilibrium. The SNP rs4803455 in TGFB1 was significantly associated with DA variations in children without CL ± P (p < 0.01). In the group with CL ± P, no significant differences in DA were observed among the genotypes. Conclusion: Children with CL ± P presented delayed DA compared with children without CL ± P. The SNP rs4803455 in TGFB1 is associated with variations in DA in children without CL ± P. [ABSTRACT FROM AUTHOR]

Published
2025
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24. Ethnic Differences in the Brazilian Population Influence the Impact of BMP4 Genetic Variants on Susceptibility of Nonsyndromic Orofacial Clefts.

Author

Rocha de Oliveira, Lilianny Querino, de Souza Nicolau, Hellen Carolliny, Barbosa Martelli, Daniella Reis, Martelli-Júnior, Hercílio, Scariot, Rafaela, Ayroza Rangel, Ana Lúcia Carrinho, de Almeida Reis, Silvia Regina, Coletta, Ricardo D., and Machado, Renato Assis

Subjects
ETHNIC groups, RISK assessment, RESEARCH funding, GENOMICS, MULTIPLE regression analysis, CELLULAR signal transduction, DNA, DESCRIPTIVE statistics, BONE morphogenetic proteins, GENETIC polymorphisms, BLACK people, ODDS ratio, CASE-control method, FIBROBLAST growth factors, GROWTH factors, CLEFT lip, DISEASE susceptibility, CRANIOFACIAL abnormalities, CONFIDENCE intervals, DATA analysis software, CLEFT palate, PSYCHOSOCIAL factors, GENOTYPES, ALLELES, SEQUENCE analysis, DISEASE risk factors
Abstract

Objective: The study evaluated the association of BMP4 tag-SNPs and SNP-SNP interactions involving genes active by BMP4 pathway during craniofacial development in the susceptibility of nonsyndromic orofacial clefts (NSOC) in the Brazilian population. Design: Case-control study. Setting: Brazilian Oral Cleft Group. Participants: The study included 881 healthy controls and 800 patients with different types of NSOC: 232 with cleft lip only (NSCLO), 568 with cleft lip and palate (NSCLP), and 274 with cleft palate only (NSCPO). Interventions: The genomic DNA was genotyped with allelic discrimination assays for five BMP4 tag-SNPs (rs11623717, rs17563, rs2071047, rs2761887 and rs4898820), and analyzed their allelic and genotypic associations using multiple logistic regression. The interactions of these variants with genes involved in the BMP4 signaling pathway, including FGFR1, GREM1, NOG, VAX1 and the 4p16.2 locus, were explored. Main outcome measures: BMP4 variants in the NSOC risk. Results: Although only nominal p values were identified when the whole sample was considered, subgroup analysis including the patients with high African genomic ancestry showed significant associations of rs2761887 with risk for nonsyndromic cleft lip with or without cleft palate (NSCL ± P)[(ORhom: 2.16; 95% CI: 1.21–3.85; p = 0.01) and (ORrec: 2.05; 95% CI: 1.21–3.47; p = 0.006)]. Thirteen significant SNP-SNP interactions involving BMP4 and the SNPs at FGFR1, GREM1, NOG and VAX1 and at locus 4p16.2 for increased risk of NSCL ± P were identified. Conclusions: Our results demonstrate an increased risk of NSCL ± P in Brazilian individuals with enrichment of African ancestry in the presence of the BMP4 rs2762887 polymorphism, and reveal relevant genetic contribution of SNP-SNP epistatic interactions involving BMP4 variants to NSCL ± P risk. [ABSTRACT FROM AUTHOR]

Published
2024
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25. GHR and IGF2R genes may contribute to normal variations in craniofacial dimensions: Insights from an admixed population

Author

Marañón-Vásquez, Guido Artemio, Vieira, Alexandre R., de Carvalho Ramos, Alice Gomes, Dantas, Beatriz, Romano, Fábio Lourenço, Palma-Dibb, Regina Guenka, Arid, Juliana, Carpio, Karla, Nelson-Filho, Paulo, de Rossi, Andiara, Scariot, Rafaela, Levy, Simone Carvalho, Antunes, Lívia Azeredo A., Antunes, Leonardo Santos, and Küchler, Erika C.

Published
2020
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30. Single Nucleotide Polymorphisms in RUNX2 and BMP2 contributes to different vertical facial profile

Author

Reis, Caio Luiz Bitencourt, primary, Matsumoto, Mirian Aiko Nakane, additional, Stuani, Maria Bernadete Sasso, additional, Romano, Fábio Lourenço, additional, Scariot, Rafaela, additional, Schroder, Angela Graciela Deliga, additional, Nelson-Filho, Paulo, additional, Kirschneck, Christian, additional, Beisel-Memmert, Svenja, additional, and Küchler, Erika Calvano, additional

Published
2024
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40. Ethnic Differences in the Brazilian Population Influence the Impact of BMP4Genetic Variants on Susceptibility of Nonsyndromic Orofacial Clefts

Author

Rocha de Oliveira, Lilianny Querino, de Souza Nicolau, Hellen Carolliny, Barbosa Martelli, Daniella Reis, Martelli-Júnior, Hercílio, Scariot, Rafaela, Ayroza Rangel, Ana Lúcia Carrinho, de Almeida Reis, Silvia Regina, Coletta, Ricardo D., and Machado, Renato Assis

Abstract

Objective The study evaluated the association of BMP4tag-SNPs and SNP-SNP interactions involving genes active by BMP4 pathway during craniofacial development in the susceptibility of nonsyndromic orofacial clefts (NSOC) in the Brazilian population.Design Case-control study.Setting Brazilian Oral Cleft Group.Participants The study included 881 healthy controls and 800 patients with different types of NSOC: 232 with cleft lip only (NSCLO), 568 with cleft lip and palate (NSCLP), and 274 with cleft palate only (NSCPO).Interventions The genomic DNA was genotyped with allelic discrimination assays for five BMP4tag-SNPs (rs11623717, rs17563, rs2071047, rs2761887 and rs4898820), and analyzed their allelic and genotypic associations using multiple logistic regression. The interactions of these variants with genes involved in the BMP4signaling pathway, including FGFR1, GREM1, NOG, VAX1and the 4p16.2 locus, were explored.Main outcome measures BMP4variants in the NSOC risk.Results Although only nominal pvalues were identified when the whole sample was considered, subgroup analysis including the patients with high African genomic ancestry showed significant associations of rs2761887 with risk for nonsyndromic cleft lip with or without cleft palate (NSCL  ±  P)[(ORhom: 2.16; 95% CI: 1.21–3.85; p=  0.01) and (ORrec: 2.05; 95% CI: 1.21–3.47; p=  0.006)]. Thirteen significant SNP-SNP interactions involving BMP4and the SNPs at FGFR1, GREM1, NOGand VAX1and at locus 4p16.2 for increased risk of NSCL  ±  P were identified.Conclusions Our results demonstrate an increased risk of NSCL  ±  P in Brazilian individuals with enrichment of African ancestry in the presence of the BMP4rs2762887 polymorphism, and reveal relevant genetic contribution of SNP-SNP epistatic interactions involving BMP4variants to NSCL  ±  P risk.

Published
2024
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44. Breastfeeding and Cleft Lip and Palate: A Systematic Review and Meta-Analysis.

Author

Becker de Oliveira, Luiza, Fonseca-Souza, Gabriela, Rolim, Tatiane Zahn Cardoso, Scariot, Rafaela, and Feltrin-Souza, Juliana

Subjects
BREASTFEEDING, MEDICAL information storage & retrieval systems, GREY literature, META-analysis, DESCRIPTIVE statistics, SYSTEMATIC reviews, MEDLINE, ODDS ratio, MEDICAL databases, CLEFT lip, ONLINE information services, CONFIDENCE intervals, CLEFT palate
Abstract

Objective: To evaluate the association between cleft lip and/or cleft palate (CL/P) and breastfeeding (BF). Design: A systematic review and meta-analysis were performed based on studies published in PubMed, Scopus, Web of Science, Cochrane Library, LILACS, BBO, and Embase databases, and in the gray literature. The search occurred in September 2021 and was updated in March 2022. Observational studies evaluating the association between BF and CL/P were included. Risk of bias was analyzed using the Newcastle-Ottawa Scale. A random-effects meta-analysis was conducted. Certainty of evidence was evaluated using the GRADE approach. Main Outcome Measure(s): Frequency of BF in relation to the presence or absence of CL/P, as well as to the type of CL/P. The association between cleft type and BF challenges was also evaluated. Results: From a total of 6863 studies identified, 29 were included in the qualitative review. Risk of bias was moderate and high in most studies (n = 26). There was a significant association between the presence of CL/P and absence of BF (OR = 18.08; 95% CI 7.09–46.09). Individuals with cleft palate with or without cleft lip (CP ± L) had a significantly lower frequency of BF (OR = 5.93; 95% CI 4.30–8.16) and a significantly higher frequency of BF challenges (OR = 13.55; 95% CI 4.91–37.43) compared to individuals with CL. Certainty of the evidence was low or very low in all analyses. Conclusion: The presence of clefts, especially those with palate involvement, is associated with higher chances of absence of BF. [ABSTRACT FROM AUTHOR]

Published
2024
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45. Genetic variants in ACTN3 and MYO1H are associated with sagittal and vertical craniofacial skeletal patterns

Author

Cunha, Arthur, Nelson-Filho, Paulo, Marañón-Vásquez, Guido Artemio, Ramos, Alice Gomes de Carvalho, Dantas, Beatriz, Sebastiani, Aline Monise, Silvério, Felipe, Omori, Marjorie Ayumi, Rodrigues, Amanda Silva, Teixeira, Ellen Cardoso, Levy, Simone Carvalho, Araújo, Marcelo Calvo de, Matsumoto, Mírian Aiko Nakane, Romano, Fábio Lourenço, Antunes, Lívia Azeredo A., Costa, Delson João da, Scariot, Rafaela, Antunes, Leonardo Santos, Vieira, Alexandre R., and Küchler, Erika C.

Published
2019
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46. Manual de cuidados e atendimentos odontológicos a pessoas com necessidades especiais

Author

Pupo, Yasmine Mendes, primary, Sarot, João Rodrigo, additional, Lopes, Jaqueline do Carmo Machado, additional, Sydney, Priscila Brenner Hilgenberg, additional, SCARIOT, RAFAELA, additional, Farias, Aline de Oliveira, additional, Biernaski, Beatriz Mazur, additional, Macedo, Carolina Duarte de, additional, Lemes, Caroline Rodrigues Coelho, additional, Nunes, Gabrielle Zirondi, additional, Reis, Giselle Emilãine, additional, Queiroz, Isabela Salgado De, additional, Kozowski, Izabellen Taynara Artigas, additional, Mendes, Larissa de Fátima, additional, Barbosa, Maria Fernanda Gbur, additional, and Ferronato, Marina Elisa da Costa, additional

Published
2020
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