ANTONIO ABILIO MOTTA
Projetos de Pesquisa
Unidades Organizacionais
Instituto Central, Hospital das Clínicas, Faculdade de Medicina - Médico
LIM/60 - Laboratório de Imunologia Clínica e Alergia, Hospital das Clínicas, Faculdade de Medicina
LIM/60 - Laboratório de Imunologia Clínica e Alergia, Hospital das Clínicas, Faculdade de Medicina
7 resultados
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conferenceObject Evaluation of autologous serum skin test positivity and autoantibodies status in patients with chronic spontaneous urticaria (CSU)(2019) PEREIRA, G. D. F.; MAMEDE, L. D. Q.; GOMES, L. S.; MAIA, L. P.; KALIL, J.; MOTTA, A. A.; BARROS, M. T.; AGONDI, R. C.- Genotype-phenotype correlations in Brazilian patients with hereditary angioedema due to C1 inhibitor deficiency(2019) MAIA, Luana S. M.; MORENO, Adriana S.; FERRIANI, Mariana P. L.; NUNES, Fernanda Leonel; FERRARO, Maria Fernanda; DIAS, Marina M.; ROXO-JUNIOR, Persio; DIAS, Fabricio Cesar; VALLE, Solange O. R.; LEVY, Soloni; ALONSO, Maria Luiza Oliva; FRANCA, Alfeu T.; SERPA, Faradiba Sarquis; MOTTA, Antonio Abilio; MAIA, Felipe G. M.; ARAGON, Davi Casale; SARTI, Willy; SILVA, Wilson Araujo; CICHON, Sven; BORK, Konrad; ARRUDA, L. Karla
conferenceObject Questionnaire to evaluate the first-generation antihistamine side effects in patients with chronic spontaneous urticaria(2019) FONSECA, L. G.; ANTILA, H. G.; SOUZA, A. B.; KALIL, J.; MOTTA, A. A.; AGONDI, R. C.- Gene mapping strategy for Alu elements rearrangements: Detection of new large deletions in the SERPING1 gene causing hereditary angioedema in Brazilian families(2019) NICOLICHT, Priscila; FARIA, Douglas O. S.; MARTINS-SILVA, Leonardo; MAIA, Luana S. M.; MORENO, Adriana S.; ARRUDA, L. Karla; MOTTA, Antonio A.; GRUMACH, Anete S.; PESQUERO, Joao B.Background: Hereditary angioedema (HAE) is a rare genetic disorder mainly caused by mutations in the SERPING1 gene, determining a deficit of C1 inhibitor (C1-INH). In approximately 10% of the cases, HAE with C1-INH deficiency (C1-INH-HAE) is caused by large gene rearrangements, which are not detected by Sanger sequencing. Here we present the exon quantification technique (EQT), a molecular diagnostic test for the detection of large genetic rearrangements in SERPING1, mapping the exact size and location of the deletion caused by the recombination of AM elements. EQT analysis was performed on total DNA extracted from blood of patients belonging to two Brazilian families with a medical history of HAE, low plasma levels of C4 and C1-INH and no pathogenic alteration in SERPING1 analyzed by Sanger sequencing. Results: Two large deletions were found, one of 1356 pb and one of 1804 pb, which resulted from recombination of two Alu elements present in introns 3 and 4 of the gene. Conclusion: These results showed that the EQT could be used as a simple, rapid, and efficient diagnosis test for analysis of large deletions and insertions involving SERPINGI, otherwise not detected by Sanger sequencing, serving as a support technique for molecular diagnosis of HAE.
conferenceObject Evaluate the frequency of autologous serum skin test in patients with autoimmune diseases(2019) GOMES, L. S.; PEREIRA, G. D. F.; MAMEDE, L. D. Q.; MAIA, L. P.; KALIL, J.; MOTTA, A. A.; AGONDI, R. C.; BARROS, M. T.- C1-INH concentrate for prophylaxis during pregnancy in hereditary angioedema with normal C1-INH Reply(2019) GARCIA, Juliana F. B.; TAKEJIMA, Priscila; VERONEZ, Camila Lopes; AUN, Marcelo V.; MOTTA, Antonio A.; KALIL, Jorge; PESQUERO, Joao Bosco; GIAVINA-BIANCHI, Pedro
conferenceObject Frequency of helicobacter pylori and response to its treatment in the clinical evolution of patients with chronic urticaria(2019) MAMEDE, L. D. Q.; GOMES, L. S.; PEREIRA, G. D. F.; MAIA, L. P.; KALIL, J.; MOTTA, A. A.; AGONDI, R. C.