ROBERTO MARQUES RIBEIRO
Projetos de Pesquisa
Unidades Organizacionais
LIM/46 - Laboratório de Parasitologia Médica, Hospital das Clínicas, Faculdade de Medicina
9 resultados
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conferenceObject A NEW INSIGHT ON CFTR ALLELE FREQUENCY IN BRAZIL THROUGH NEXT GENERATION SEQUENCING(2016) NUNES, Luisa Mesquita; RIBEIRO, Roberto; SABINO, Ester; NIEWIANDONSKI, Vivian D. T.; YAMAMOTO, Guilherme Lopes; SILVA FILHO, Luiz Vicente Ribeiro F. da- HCV inter-subtype 1a/1b recombinant detected by complete-genome next-generation sequencing(2016) GASPARETO, Karine Vieira; RIBEIRO, Roberto Marques; MALTA, Fernanda de Mello; GOMES-GOUVEA, Michele Soares; MUTO, Nair Hideko; MENDES-CORREA, Maria Cassia; ROZANSKI, Andrei; CARRILHO, Flair Jose; SABINO, Ester Cerdeira; PINHO, Joao Renato RebelloNext-generation sequencing (NGS) provides a practical approach to HCV complete-genome sequencing, detecting low-frequency variants and allowing analysis of viral genetic diversity (quasispecies) in the sample, and so far, it is very useful for identifying preexisting drug-resistant mutants and emerging escape mutations, as well as detecting viral recombinants containing genomic regions from different genotypes and subtypes. The aim of this study was to analyze the complete coding region of hepatitis C virus (HCV) genotype 1 (subtypes 1a and 1b) from patients with chronic infection who were direct-acting antiviral (DAA) na < ve. Next-generation sequencing (Ion Torrent (TM) PGM) was used to determine the sequence of the complete coding region of 100 HCV-monoinfected DAA-na < ve patients (51 and 49 subtypes 1a and 1b, respectively). We report the first description of nearly complete HCV genome sequences of subtype 1a and 1b isolates from a large population of Brazilian patients with chronic hepatitis C, and HCV-1a grouped in two different clades. Using this methodology, an inter-subtype 1a/1b recombinant was identified in this study.
conferenceObject NEXT GENERATION SEQUENCING OF CFTR IN BRAZILIAN CF CHILDREN(2015) NUNES, L. M.; RIBEIRO, R.; NIEWIADONSKI, V. D.; NISHIMURA, P. Y.; SABINO, E.; SILVA FILHO, L. R. daconferenceObject Molecular Characterization of the Fecal Microbiome in Brazilian Obese NASH patients compared to lean healthy controls.(2015) OLIVEIRA, Claudia P.; STEFANO, Jose Tadeu; RIBEIRO, Roberto M.; DUARTE, Sebastiao M.; RODRIGUES, Livia; CAMPOS, Priscila B.; COSTA, Fernando G.; MAZO, Daniel F.; CARRILHO, Flair J.; SABINO, Ester C.- A new insight into CFTR allele frequency in Brazil through next generation sequencing(2017) NUNES, Luisa M.; RIBEIRO, Roberto; NIEWIADONSKI, Vivian D. T.; SABINO, Ester; YAMAMOTO, Guilherme L.; BERTOLA, Debora R.; GABURO, Nelson; SILVA FILHO, Luiz Vicente R. F. daBackgroundAs of 2013, fewer than 20% of patients in the Brazilian CF Registry had two CFTR mutations identified. The aim of this study was to sequence the coding region of the CFTR in Brazilian CF patients and determine the frequency of mutations in this cohort. MethodsPatients with CF and those with suspected atypical CF or CFTR-related disorders were invited to enroll. Total DNA was extracted from blood samples, quantified, and purified. Library preparation was performed using Ion Xpress Plus gDNA and Amplicon Library preparation kits (Life Technologies), as well as sequencing using the Ion Torrent platform (Life Technologies). ResultsA total of 141 patients were enrolled, and 45 mutations were identified. Among 126 CF patients, we identified mutations in 97.2% of alleles. The three most common mutations were F508del, G542X, and 3120+1G->A. Five novel pathogenic mutations were also identified. ConclusionsNext generation sequencing (NGS) allowed the identification of mutations in most CF alleles and confirmed allelic heterogeneity in our population.
- RHD and RHCE genotyping by next-generation sequencing is an effective strategy to identify molecular variants within sickle cell disease patients(2017) DEZAN, Marcia R.; RIBEIRO, Ingrid Helena; OLIVEIRA, Valeria B.; VIEIRA, Juliana B.; GOMES, Francisco C.; FRANCO, Lucas A. M.; VARUZZA, Leonardo; RIBEIRO, Roberto; CHINOCA, Karen Ziza; LEVI, Jose Eduardo; KRIEGER, Jose Eduardo; PEREIRA, Alexandre Costa; GUALANDRO, Sandra F. M.; ROCHA, Vanderson G.; MENDRONE-JUNIOR, Alfredo; SABINO, Ester Cerdeira; DINARDO, Carla LuanaBackground: The complexity of Rh genetic variation among sickle cell disease (SCD) patients is high. Conventional molecular assays cannot identify all genetic variants already described for the RH locus as well as foresee novel alleles. Sequencing RHD and RHCE is indicated to broaden the search for Rh genetic variants. Aims: To standardize the Next Generation Sequencing (NGS) strategy to assertively identify Rh genetic variants among SCD patients with serologic suspicion of Rh variants and evaluate if it can improve the transfusion support. Methods: Thirty-five SCD patients with unexplained Rh antibodies were enrolled. A NGS-based strategy was developed to genotype RHD and RHCE using gene-specific primers. Genotype and serological data were compared. Results: Data obtained from the NGS-based assay were gene-specific. Ten and 25 variant RHD and RHCE alleles were identified, respectively. Among all cases of unexplained Rh antibodies, 62% had been inaccurately classified by serological analysis and, of these, 73.1% were considered as relevant, as were associated with increased risk of hemolytic reactions and shortage of units suitable for transfusion. Conclusion: The NGS assay designed to genotype RH coding regions was effective and accurate in identifying variants. The proposed strategy clarified the Rh phenotype of most patients, improving transfusion support.
- Resistance-associated variants in HCV subtypes 1a and 1b detected by Ion Torrent sequencing platform(2016) GASPARETO, Karine V.; RIBEIRO, Roberto M.; MALTA, Fernanda de Mello; GOMES-GOUVEA, Michele S.; MUTO, Nair H.; ROMANO, Camila M.; MENDES-CORREA, Maria C.; CARRILHO, Flair J.; SABINO, Ester C.; PINHO, Joao R. RebelloBackground: As a result of increased understanding of the HCV life cycle, a new generation of drugs known as direct-acting antivirals (DAAs) was developed and is constantly being improved. At baseline, HCV variants resistant to DAA therapy may pre-exist, increasing the likelihood of treatment failure. The aim of this study was to investigate the presence of resistance-associated variants (RAVs) in treatment-naive patients infected with HCV subtypes 1a and 1b. Methods: Next-generation sequencing was used to assess the frequencies of NS3-4A, NS5A and NS5B RAVs in 100 HCV monoinfected DAA-naive patients (HCV-1a: n= 51; HCV-1b: n= 49). Results: Complete HCV sequence information was obtained for most samples. RAVs were detected in the NS3-4A (T54S, V55A, Q80K and R155K), NS5A (Q30H/R, H58P and Y93C/H/N) and NS5B (A421V) regions in 10%, 22% and 8%, respectively, of patients infected with HCV subtype-1a. Among the patients infected with HCV subtype-1b, mutations in the NS3-4A (F43I, T54S, Q80H, D168E and M175L), NS5A (L28M, R30Q, L31M, Q54H, A92T and Y93H) and NS5B (L159F, C316N, A421V and S556G) regions were observed in 12%, 53% and 31% of patients, respectively. Conclusions: High-throughput DNA sequencing allows an easier and more complete analysis of DAA RAVs, including mutations that represent only a minor variant of the whole viral population. RAVs to the three different classes of DAAs were found in our population. The characterization of their profile in the circulating virus is relevant to determine the better treatment option for infected individuals or to guide the implementation of treatment policies.
conferenceObject MCM4 DEFICIENCY: A RARE VARIANT OF IMMUNODEFICIENCY OF NK CELLS ASSOCIATED TO PROPORTIONATE NANISM AND ADRENAL INSUFFICIENCY. DESCRIPTION OF THE FIRST CASE IN BRAZIL(2016) MORAES-VASCONCELOS, Dewton; RIBEIRO, Roberto; RIGATO, Paula Ordonhez; PINICHI, Paula; AOKI, Valeria; TAKAOKA, Roberto; DUARTE, Alberto Jose da Silva; SABINO, Ester CerdeiraconferenceObject SIX NOVEL CFTR MUTATIONS IDENTIFIED IN BRAZILIAN CF CHILDREN(2016) NUNES, Luisa Mesquita; RIBEIRO, Roberto; GABURO, Nelson; YAMAMOTO, Guilherme Lopes; BERTOLA, Debora Romeu; SILVA FILHO, Luiz Vicente Ribeiro F. da