Navegando por Palavras-chave "Genotype"
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- ItemSomente MetadadadosACE I/D genotype-related increase in ACE plasma activity is a better predictor for schizophrenia diagnosis than the genotype alone(Elsevier B.V., 2015-05-01) Gadelha, Ary [UNIFESP]; Yonamine, Camila M. [UNIFESP]; Ota, Vanessa K. [UNIFESP]; Oliveira, Vitor [UNIFESP]; Sato, Joao Ricardo; Belangero, Sintia I. [UNIFESP]; Bressan, Rodrigo A. [UNIFESP]; Hayashi, Mirian A. F. [UNIFESP]; Universidade Federal de São Paulo (UNIFESP); Universidade Federal do ABC (UFABC)Background: Angiotensin-I converting enzyme (ACE) is a key component of the renin-angiotensin system(RAS). Although the several contradictory data, ACE has been associated with schizophrenia (SCZ) pathophysiology. Here the ACE activity of SCZ patients and healthy controls (HCs), and its possible correlations with the ACE polymorphism genotype and symptomatic dimensions, was investigated.Methodology: ACE activity of 86 SCZ patients and 100 HCs paired by age, gender and educational level was measured, using the FRET peptide substrate and the specific inhibitor lisinopril. the ACE insertion/deletion (I/D) genotypes were assessed by the restriction fragment length polymorphism (RFLP) technique.Results: Significantly higher ACE activity was observed in SCZ patients compared to HCs (t=-5.09; p < 0.001). the area under the receiver operating characteristic (ROC) curve was 0.701. Mean ACE activity levels were higher for the D-allele carriers (F = 5.570; p = 0.005), but no significant difference was found among SCZ patients and HCs for genotypes frequencies (Chi-squared = 2.08; df = 2; p = 0.35). Interestingly, we found that the difference between the measured ACE activity for each SCZ patient and the expected average mean value for each respective genotype group (for control subjects) was a better predictor of SCZ than the ACE dichotomized values (high/low) or ACE I/D.Conclusion: Our results suggest that higher levels of ACE activity are associated with SCZ with stronger impact when the genetic background of each individual is considered. This may explain the heterogeneity of the results on ACE previously reported. (C) 2015 Elsevier B.V. All rights reserved.
- ItemAcesso aberto (Open Access)Association between insulin resistance and sustained virologic response in hepatitis C treatment, genotypes 1 versus 2 and 3: systematic literature review and meta-analysis(Brazilian Society of Infectious Diseases, 2013-10-01) Laurito, Marcela Pezzoto [UNIFESP]; Parise, Edison Roberto [UNIFESP]; Universidade Federal de São Paulo (UNIFESP); Bristol-Myers Squibb S.ABACKGROUND/AIMS: Controversial results have been found in literature for the association between insulin resistance and sustained virologic response to standard chronic hepatitis C treatment. This study aims to provide a systematic literature review with meta-analysis, in order to evaluate if insulin resistance interferes with sustained virologic response in patients infected by the HCV genotype 1 versus HCV genotypes 2 and 3, undergoing treatment with interferon and ribavirin or pegylated interferon and ribavarin. METHODS: Systematic search was performed on main electronic databases until May 2012. Primary outcome was sustained virologic response, defined as undetectable levels of HCVRNA six months after the end of treatment. Meta-analytic measure was estimated using Dersimonian and Laird's method, using Stata software. RESULTS: Thirteen studies involving 2238 infected patients were included. There was a statistically significant association between insulin resistance and lower sustained virologic response rate, and this difference occurred in HCV genotype G1 (OR: 2.23; 95% 1.59-3.13) and G2/G3 (OR: 4.45; 95% CI: 1.59-12.49). In addition, a difference was seen in the cut-offs used for defining insulin resistance by Homeostasis Model Assessment of Insulin Resistance. To minimize this limitation, sub-analysis that excluded the studies that did not use 2 as a cut-off value was performed and the results still demonstrated association between insulin resistance and sustained virologic response, for both genotypic groups. CONCLUSION: This meta-analysis provides evidence that elevated Homeostasis Model Assessment of Insulin Resistance is associated with a lower sustained virologic response rate in patients with hepatitis C treated with interferon and ribavirin or pegylated interferon and ribavarin, regardless of their genotype.
- ItemAcesso aberto (Open Access)Caracterização genética de rinovírus humano em amostras de populações distintas do Estado de São Paulo(Universidade Federal de São Paulo (UNIFESP), 2012-03-30) Watanabe, Aripuanã Sakurada Aranha [UNIFESP]; Bellei, Nancy Cristina Junqueira [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)Infections caused by Human Rhinoviruses (HRVs) account for 25%-50% of respiratory illnesses among individuals presenting influenza-like illness (ILI). HRVs could be classified in at least three species: HRV-A, HRV-B, and HRV-C. The HRV-C species has frequently been described among children and apparently has led to severe illness resulting in hospitalization; however, the occurrence among adults is unknown. The aim of this study was to assess the clinical presentation and species distribution of HRV infections in different populations during 2001-2005. A total of 682 samples were collected. Subjects consisted of 132 adults from the general community and 198 health-care workers (2001-2003), 242 renaltransplanted outpatients (2002-2004), 61 children with congenital heart disease (2005) and 49 elderly persons from Botucatu city, Sao Paulo, Brazil (2003-2004). Amplification of HRV genes was performed by Reverse Transcriptase – Polymerase Chain Reaction (RT-PCR) and followed by sequencing and phylogenetic analysis. HRV was detected in 24.05% of samples (164/682), 15.2% (20/132) among adults from general community, 29.8% (59/198) among health-care workers, 23.6% (57/242) among renal-transplanted outpatients, 22.9% (14/61) among children with congenital heart disease and 28.6% (14/49) among elderlies. A total of 85.5% (137/164) previously positive HRV samples were sequenced and 79.9% (131/164) were analyzed. We identified 80 isolates (61.0%) of the HRV A species, 22 (16.8%) of the HRV B species and 29 isolates (22.2%) of the HRV C species. High ILI rate (38.9%) was found among HRV infected patients. Logistic regression showed a three-fold increase in prevalence of ILI in individuals with HRV A infection compared with HRV C infected patients. HRV infections caused ILI among non-hospitalized patients. HRV specie A was associated with a disease more intense than a common cold. The dynamics of infection among different species deserve further analysis.
- ItemAcesso aberto (Open Access)Comparação genotípica e fenotípica de diferentes isolados clínicos de colonização e candidemia por Candida rugosa(Universidade Federal de São Paulo (UNIFESP), 2009-07-29) Terçarioli, Gisela Ramos [UNIFESP]; Colombo, Arnaldo Lopes [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)Introduction: Candida rugosa is an emergent pathogen recognized by its higher occurrence in Latin American countries. This yeast has the ability to colonize and cause human bloodstream infections as well as to show resistance to several antifungal drugs, specifically to azoles. Objectives: To compare phenotypic properties such as virulence attributes and antifungal susceptibility, as well as to perform molecular identification and typing of C. rugosa clinical isolates obtained from patients who were either colonized or developed candidemia due to this species during the hospitalization period. We were also interested in evaluating such differences among strains isolated across two different periods: 1995/96 and 2001/02. Material and Methods: The strains were phenotypically characterized according to virulence factors, including the production of extra cellular enzymes (protease, phospholipase and lipase) and biofilm formation. We performed susceptibility testing to 5 antifungal drugs by using broth microdilution: amphotericin B, fluconazole, voriconazole, caspofungin and anidulafungin. To confirm identification to the species level and evaluate genetic variability, we have employed RAPD, microsatelite and rDNA ITS region sequencing. Results: Phenotypic properties varied considerably among the isolates, specifically regarding to hydrolytic enzymes production. Most of the isolates were low proteinase producers. The strains were phospholipase negative and showed a not very expressive biofilm formation in general. Nevertheless, lipase production was the only virulence factor considerably expressed by the clinical isolates, specifically by blood strains, suggesting the importance of this attribute in C. rugosa infection. The strains were sensitive to all the antifungal drugs tested, except fluconazole. The clinical isolates were highly related as determined by 3 different methods. However the control strain ATCC10571 was considered genotipically very different Our isolates were 90.5% similar among them and 87% similar to C. rugosa control strain as determined by RAPD, and 92% similar among them and 86,5% similar to ATCC10571, as determined by microsatelite. All the isolates were identified as C. rugosa by ITS region sequencing. The percentage of similarity ranged from 89% to 93% for the clinical isolates, and 99% to C. rugosa ATCC10571. Conclusions: It was not possible to establish a direct relationship between the expression of all virulence properties and patients clinical outcomes. However there is mounting evidence that lipase activity influences candidemia due to C. rugosa. It is possible that clonal dissemination in the hospital environment have occurred throughout several years. In addition, the genetic differences found between our isolates C. rugosa control strain ATCC10571, together with the phenotypic differences observed, such as higher biofilm formation and rough colony morphology, as well as low lipase activity for this control strain, suggest the genetic heterogeneity among the taxon C. rugosa.
- ItemAcesso aberto (Open Access)Exoma na prática clínica: expansão fenotípica, dismorfologia reversa e descoberta de novos genes(Universidade Federal de São Paulo (UNIFESP), 2016-12-21) Migliavacca, Michele Patricia [UNIFESP]; Perez, Ana Beatriz Alvarez [UNIFESP]; http://lattes.cnpq.br/4784102068388854; http://lattes.cnpq.br/8551223548156991; Universidade Federal de São Paulo (UNIFESP)Purpose: To analyze candidate variants for previous selected patients with Mendelian Diseases using Whole Exome Sequencing (WES). Methods: Patients were obtained from PhenoDB platform and reviewed by a Committee. Those who filled in the selection criteria had the exome sequencing performed by the Illumina HiSeq2000 (Illumina, Inc. San Diego, CA) platform. The data analysis workflow was design to evaluate possible candidate variants using specific computational filters. The ANNOVAR file of each patient was uploaded at the PhenoDb platform being available to the Analysis Committee. Results: Twelve patients that better represented one of the following categories was selected: new gene discovery, phenotypic expansion and reverse dysmorphology. A cohort of six patients were selected to represent the category of new gene discovery, all of them shared the same clinical diagnosis of Gomez-Lopez-Hernandez Syndrome (OMIM 601853, a mendelian disease without a known molecular basis, unfurtunally no candidate variants were found to the moment; a patient with Van den Ende Gupta Syndrome and a SCARF2 homozygous 17bp deletion and a new finding, bilateral sclerocornea, thus extending the phenotype; one patient with severe neonatal ichthyosis and limb malformation, unusual findings in assotiation, with a new mutation at the MBTPS2 responsible for the BRESHECK Syndrome; one patient with a previous clinical diagnosis of Ramos-Arroyo Syndrome and a pathogenic variant at the BCOR gene related to Syndromic Microophtalmya type 2; one brother and one sister with compound heterozygous mutation at the ERCC3 gene, with an overlapping phenotype of Tricothiodystrophy and Xeroderma Pigmentosum, and a patient with a pathogenic variant at HDAC8 gene responsible for Cornelia de Lange type 5 Syndrome. Conclusion: WES is a valid approach to investigated mendelian diseases when a molecular basis is not known, genetic heterogeneity plays a important role or if there is a suggestive mendelian inheritance without a clear diagnosis.
- ItemSomente MetadadadosGuidelines for the management and treatment of periodic fever syndromes familial mediterranean fever(Elsevier science inc, 2016) Terreri, Maria Teresa R. A. [UNIFESP]; Bernardo, Wanderley Marques; Len, Claudio Arnaldo [UNIFESP]; Almeida da Silva, Clovis Artur; Ribeiro de Magalhaes, Cristina Medeiros; Sacchetti, Silvana B.; Leme Ferriani, Virginia Paes; Petry Piotto, Daniela Gerent [UNIFESP]; Cavalcanti, Andre de Souza; de Moraes, Ana Julia Pantoja; Sztajnbok, Flavio Roberto; Feitosa de Oliveira, Sheila Knupp; Arruda Campos, Lucia Maria; Bandeira, Marcia; Sena Teixeira Santos, Flavia Patricia; Magalhaes, Claudia SaadObjective: To establish guidelines based on scientific evidence for the management of familial Mediterranean fever. Description of the evidence collection method: The Guideline was prepared from 5 clinical questions that were structured through PICO (Patient, Intervention or indicator, Comparison and Outcome), to search in key primary scientific information databases. After defining the potential studies to support the recommendations, these were graduated considering their strength of evidence and grade of recommendation. Results: 10,341 articles were retrieved and evaluated by title and abstract
- ItemSomente MetadadadosInvestigation of pseudogenes RHD Psi and RHD -CE-D hybrid gene in D-negative blood donors by the real time PCR method(Elsevier B.V., 2012-12-01) Szulman, Alexandre [UNIFESP]; Machado Nardozza, Luciano Marcondes [UNIFESP]; Barreto, Jose Augusto [UNIFESP]; Araujo, Edward [UNIFESP]; Moron, Antonio Fernandes [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)Introduction: the Rh system is the most polymorphic and immunogenic of all systems of blood groups. Currently more than 49 antigens were identified with five major antigens D, C, c, E. e. Knowledge of the molecular basis of the Rh system permitted the understanding of both the mechanism of Rh phenotype on the antigen variants of RHD and RHCE in Caucasians the primary mechanism of D-negative phenotype is the complete deletion of RHD gene, while the black Africans is the presence of pseudogene and gene hybrid RHD-CE (3-7)-D.Objective: To determine the prevalence gene pseudogene and hybrid gene and standardization of molecular techniques in method of Taqman on real-time PCR for RHD genotyping. Patients and methods: 203 samples of D-negative donor were used to establish and validate the effectiveness of RHD genotyping in real-time PCR using Taqman technology. the extraction was performed using a commercial kit QIAmp DNA mini kit. Samples exon 10 and 7 positive were submitted to amplification of exon 5, confirming the pseudogene RHD Psi, whereas exon 10 + exon 7 - for the hybrid gene (C) cdes and mutation C733G (Leu245Val) of the RHCE gene.Results: Twenty-five (12.3%) samples were positive, 14 amplified for both exons 10 and 7 while in 11 only for the exon 10. When extended the screening using exon 10, 7 and 5, only 06 amplified. the pseudogene was present in 07 samples (3.5%) and the hybrid RHD-CE (3-7) in 04 (1.97%), while in 177 (87.2%) of Rh negative donors were RHD gene deletion. in 07 samples not amplified for exon 3 had mutated and the mutation C733G antigen.Conclusion: the prevalence of pseudogene was 3.5% and the gene hybrid RHD-CE of 1.9%. This approach for real-time PCR as a complementary tool is technically feasible and the results of this study helped develop a new strategy for RHD genotyping. Crown Copyright (C) 2012 Published by Elsevier B.V. All rights reserved.
- ItemAcesso aberto (Open Access)Phenotypic spectrum of FARS2-deficiency(Elsevier Science Bv, 2018) Finsterer, Josef; Scorza, Carla Alessandra [UNIFESP]; Scorza, Fulvio Alexandre [UNIFESP]
- ItemAcesso aberto (Open Access)Rotavirus genotypes as etiological agents of diarrhoea in general populations of two geographic regions of Brazil(Inst Medicina Tropical Sao Paulo, 2017) Leite, Marcel [UNIFESP]; Carmona, Rita Cássia Compagnoli; Carraro, Emerson; Watanabe, Aripuanã Sakurada Aranha [UNIFESP]; Granato, Celso Francisco Hernandes [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)Rotavirus is the main global cause of severe childhood diarrhoea among children. In 2006, Rotarix r (G1P[8]) was introduced into Brazil's National Immunization Program. The vaccine coverage rate was 84.4% in 2009. Evidences of increasing G2P[4] after 2006 opened up the discussion about the vaccine effectiveness to non-G1 strains. The aim of this study was to identify the circulating rotavirus genotypes in two Brazilian regions during 2009. A total of 223 positive samples by immunochromatography and latex agglutination assay from the Northeast (Bahia/Pernambuco States) and Southeast (Sao Paulo/Rio de Janeiro States) regions were included in the study. The samples were submitted to genotyping by nested-PCR according to VP7(G) and VP4(P) and 175 samples (78.5%) were able to be characterized. Considering the characterization of VP7, the G-types detected were G1, G2, and G4 in the Northeast, and G2, G3, G5, and G9 in the Southeast. Considering the characterization of VP4, the P-types detected were P[4], P[8], and P[6]/P[9] in the Northeast and the Southeast. The most frequent mixed types found were G2P[4]/G2P[NT](81.4%), G2P[6](5.2%), G1P[6](5.2%) in the Northeast, and G2P[4]/G2P[NT](78.8%), G2P[6](8.2%), G9P[8](4.7%) in the Southeast. Among immunized individuals whose age ranged from 0- 4 years, the G2P[4]/G2P[NT] genotype was identified in 91,0% of cases, and among non-immunized individuals of the same age, the G2P[4]/G2P[NT] genotype was identified in 85.7% of the cases. In accordance with the high level of vaccine coverage, the data suggest that the circulation of G2P[4] in these regions had a considerable increase after the introduction of Rotarix (R).