RICARDO FERREIRA BENTO

(Fonte: Lattes)
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Lattes
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Departamento de Otorrinolaringologia e Oftalmologia, Faculdade de Medicina - Docente
Instituto Central, Hospital das Clínicas, Faculdade de Medicina
LIM/32 - Laboratório de Otorrinolaringologia, Hospital das Clínicas, Faculdade de Medicina - Líder

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  • article 22 Citação(ões) na Scopus
    Validation of a Portuguese version of the health-related quality of life measure for active chronic otitis media (COMQ-12)
    (2018) FONSECA, Anna Carolina Oliveira; RAMOS, Pedro; BALSALOBRE, Fernando A.; FREITAS, Edson L.; PHILLIPS, John S.; YUNG, Matthew W.; BENTO, Ricardo F.
    Introduction: Measuring the impact on quality of life, especially after the beginning of the treatment, is becoming increasingly important in healthcare. Objective: The aim of this study was to translate the Chronic Otitis Media Questionnaire-12 (COMQ-12) into Portuguese language and validate this version in a group of patients with chronic otitis media. Methods: The Portuguese version of COMQ-12 was obtained by translation and back translation. Portuguese speaking patients with a history of active chronic otitis media were asked to complete the COMQ-12 Portuguese version. Cronbach's alpha coefficient was calculated for an estimation of the internal consistency of the questionnaire. Results: A total of 100 patients were included in the study; 49 women and 51 men, with a mean age of 39 years (range 12-77 years, median 40 years). The average COMQ-12 score was 29, out of a maximum score of 60. Cronbach's alpha result for the Portuguese version of the COMQ-12 was 0.85, indicating a high internal consistency. The participants presented with different forms of chronic otitis media, and almost all domains of the COMQ-12 questionnaire were able to differentiate between patients with healed chronic otitis media and patients with cholesteatoma or wet tympanic membrane perforation. Showing that patients with healed chronic otitis media have a better quality of life, measured by the COMQ-12, is a first step to guarantee the questionnaire's validity. The next step will consist on routinely using the questionnaire in patients undergoing surgery for chronic otitis media in order to evaluate their quality of life after treatment. Conclusion: The COMQ-12 Portuguese version showed high reliability, and may be used as an assessment of quality of life in patients with chronic otitis media. (C) 2017 Associacao Brasileira de Otorrinolaringologia e Cirurgia Cervico-Facial.
  • article 10 Citação(ões) na Scopus
    A rare genomic duplication in 2p14 underlies autosomal dominant hearing loss DFNA58
    (2020) LEZIROVITZ, Karina; VIEIRA-SILVA, Gleiciele A.; BATISSOCO, Ana C.; LEVY, Debora; KITAJIMA, Joao P.; TROUILLET, Alix; OUYANG, Ellen; ZEBARJADI, Navid; SAMPAIO-SILVA, Juliana; PEDROSO-CAMPOS, Vinicius; NASCIMENTO, Larissa R.; SONODA, Cindy Y.; BORGES, Vinicius M.; VASCONCELOS, Laura G.; BECK, Roberto M. O.; GRASEL, Signe S.; JAGGER, Daniel J.; GRILLET, Nicolas; BENTO, Ricardo F.; MINGRONI-NETTO, Regina C.; OITICICA, Jeanne
    Here we define a similar to 200 Kb genomic duplication in 2p14 as the genetic signature that segregates with postlingual progressive sensorineural autosomal dominant hearing loss (HL) in 20 affected individuals from the DFNA58 family, first reported in 2009. The duplication includes two entire genes, PLEK and CNRIP1, and the first exon of PPP3R1 (protein coding), in addition to four uncharacterized long non-coding (lnc) RNA genes and part of a novel protein-coding gene. Quantitative analysis of mRNA expression in blood samples revealed selective overexpression of CNRIP1 and of two lncRNA genes (LOC107985892 and LOC102724389) in all affected members tested, but not in unaffected ones. Qualitative analysis of mRNA expression identified also fusion transcripts involving parts of PPP3R1, CNRIP1 and an intergenic region between PLEK and CNRIP1, in the blood of all carriers of the duplication, but were heterogeneous in nature. By in situ hybridization and immunofluorescence, we showed that Cnrip1, Plek and Ppp3r1 genes are all expressed in the adult mouse cochlea including the spiral ganglion neurons, suggesting changes in expression levels of these genes in the hearing organ could underlie the DFNA58 form of deafness. Our study highlights the value of studying rare genomic events leading to HL, such as copy number variations. Further studies will be required to determine which of these genes, either coding proteins or non-coding RNAs, is or are responsible for DFNA58 HL.