ROBINSON KOJI TSUJI
Projetos de Pesquisa
Unidades Organizacionais
Instituto Central, Hospital das Clínicas, Faculdade de Medicina
LIM/32 - Laboratório de Otorrinolaringologia, Hospital das Clínicas, Faculdade de Medicina
LIM/32 - Laboratório de Otorrinolaringologia, Hospital das Clínicas, Faculdade de Medicina
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- Molecular and genetic characterization of a large Brazilian cohort presenting hearing loss(2022) BATISSOCO, Ana Carla; PEDROSO-CAMPOS, Vinicius; PARDONO, Eliete; SAMPAIO-SILVA, Juliana; SONODA, Cindy Yukimi; VIEIRA-SILVA, Gleiciele Alice; LONGATI, Estefany Uchoa da Silva de Oliveira; MARIANO, Diego; HOSHINO, Ana Cristina Hiromi; TSUJI, Robinson Koji; JESUS-SANTOS, Rafaela; ABATH-NETO, Osorio; BENTO, Ricardo Ferreira; OITICICA, Jeanne; LEZIROVITZ, KarinaHearing loss is one of the most common sensory defects, affecting 5.5% of the worldwide population and significantly impacting health and social life. It is mainly attributed to genetic causes, but their relative contribution reflects the geographical region's socio-economic development. Extreme genetic heterogeneity with hundreds of deafness genes involved poses challenges for molecular diagnosis. Here we report the investigation of 542 hearing-impaired subjects from all Brazilian regions to search for genetic causes. Biallelic GJB2/GJB6 causative variants were identified in 12.9% (the lowest frequency was found in the Northern region, 7.7%), 0.4% carried GJB2 dominant variants, and 0.6% had the m.1555A > G variant (one aminoglycoside-related). In addition, other genetic screenings, employed in selected probands according to clinical presentation and presumptive inheritance patterns, identified causative variants in 2.4%. Ear malformations and auditory neuropathy were diagnosed in 10.8% and 3.5% of probands, respectively. In 3.8% of prelingual/perilingual cases, Waardenburg syndrome was clinically diagnosed, and in 71.4%, these diagnoses were confirmed with pathogenic variants revealed; seven out of them were novel, including one CNV. All these genetic screening strategies revealed causative variants in 16.2% of the cases. Based on causative variants in the molecular diagnosis and genealogy analyses, a probable genetic etiology was found in similar to 50% of the cases. The present study highlights the relevance of GJB2/GJB6 as a cause of hearing loss in all Brazilian regions and the importance of screening unselected samples for estimating frequencies. Moreover, when a comprehensive screening is not available, molecular diagnosis can be enhanced by selecting probands for specific screenings.
- Can the use of the CROS system provide head shadow effect contribution to unilateral Cochlear Implant Users?(2022) HOSHINO, Ana Cristina Hiromi; GOFFI-GOMEZ, Maria Valeria Schmidt; SIERRA, Paola Angelica Samuel; AGRAWAL, Smita; RODRIGUEZ, Carina; CARVALHO, Ana Claudia Martinho de; TSUJI, Robinson KojiPurpose: The aim of this study was to evaluate the contribution of the CROS system on the head shadow effect in unilateral implant users. Methods: Prospective cross-sectional study, approved by the ethics committee under protocol 2.128.869. Eleven adults with post-lingual deafness users of unilateral Advanced Bionics CI were selected. Speech recognition was evaluated with recorded words presented at 65dBA at 0o azimuth and at 90o on the side contralateral to the CI, with noise at 55dBA, using CI alone and CI + CROS system. The results were analyzed using paired t-test with a 0.05 alpha. Results: The mean speech recognition scores were significantly better with CI + CROS in relation to the condition of CI alone (p <0.05, p <0.005 and p <0.005 respectively). In the presentation at 0o azimuth, no significant differences were found. Conclusion: Users of unilateral CI without useful residual hearing for the use of hearing aids or unable to undergo bilateral surgery can benefit from the CROS device for speech recognition, especially when the speech is presented on the side contralateral to the CI.
- Desenvolvimento de habilidades auditivas de crianças no primeiro ano após o implante coclear unilateral e bilateral(2022) UEDA, Cynthia Harumi Yokoyama; MAGALHÃES, Ana Tereza de Matos; SADOWSKI, Tatiana; TSUJI, Robinson Koji; GOFFI-GOMEZ, Maria Valéria SchmidtABSTRACT Purpose To identify the development of initial auditory skills in children with unilateral and bilateral cochlear implant during the first year of use. Methods Retrospective longitudinal study of medical records of children who received cochlear implant under the age of four, separated into two groups. The first, composed of children implanted unilaterally and the second, by children implanted and simultaneously. Data on the IT-MAIS scale (Infant-Toddler Meaningful Auditory Integration Scale) were collected before surgery and three months, six months and one year after surgery. These results were compared with the existing Clinical Markers. In addition, the family’s classification was noted, according to the Family Involvement Assessment Scale. Results The data of 29 children with bilateral cochlear implant and 30 children with unilateral cochlear implant were evaluated. The IT-MAIS score of the two groups was similar to the Clinical Markers. Regarding the Family Involvement Assessment Scale, there was a difference, showing that families in the bilateral group were more involved. Conclusion In the first year of use of the cochlear implant, the development of children implanted bilaterally did not differ from the development of children implanted unilaterally, suggesting that initial auditory skills are likely to develop with unilateral auditory input.