JEANNE DA ROSA OITICICA RAMALHO
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
17 resultados
Resultados de Busca
Agora exibindo 1 - 10 de 17
- NCOA3 identified as a new candidate to explain autosomal dominant progressive hearing loss (vol 29, pg 3691, 2020)(2022) SALAZAR-SILVA, R.; DANTAS, Vitor Lima Goes; ALVES, Leandro Ucela; BATISSOCO, Ana Carla; OITICICA, Jeanne; LAWRENCE, Elizabeth A.; KAWAFI, Abdelwahab; YANG, Yushi; NICASTRO, Fernanda Stavale; NOVAES, Beatriz Caiuby; HAMMOND, Chrissy; KAGUE, Erika; MINGRONI-NETTO, R. C.
- Novel partial duplication of EYA1 causes branchiootic syndrome in a large Brazilian family(2015) DANTAS, Vitor G. L.; FREITAS, Erika L.; DELLA-ROSA, Valter A.; LEZIROVITZ, Karina; MORAES, Ana Maria S. M. de; RAMOS, Silvia B.; OITICICA, Jeanne; ALVES, Leandro U.; PEARSON, Peter L.; ROSENBERG, Carla; MINGRONI-NETTO, Regina C.Objective: To identify novel genetic causes of syndromic hearing loss in Brazil. Design: To map a candidate chromosomal region through linkage studies in an extensive Brazilian family and identify novel pathogenic variants using sequencing and array-CGH. Study sample: Brazilian pedigree with individuals affected by BO syndrome characterized by deafness and malformations of outer, middle and inner ear, auricular and cervical fistulae, but no renal abnormalities. Results: Whole genome microarray-SNP scanning on samples of 11 affected individuals detected a multipoint Lod score of 2.6 in the EYA1 gene region (chromosome 8). Sequencing of EYA1 in affected patients did not reveal pathogenic mutations. However, oligonucleotide-array-CGH detected a duplication of 71.8Kb involving exons 4 to 10 of EYA1 (heterozygous state). Real-time-PCR confirmed the duplication in fourteen of fifteen affected individuals and absence in 13 unaffected individuals. The exception involved a consanguineous parentage and was assumed to involve a different genetic mechanism. Conclusions: Our findings implicate this EYA1 partial duplication segregating with BO phenotype in a Brazilian pedigree and is the first description of a large duplication leading to the BOR/BO syndrome.
- 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.
bookPart Zumbido(2018) OITICICA, Jeanne; VASCONCELOS, Laura Garcia; SIMONETTI, Patrícia; ANAUATE, Juliana; CAMPAGNA, Carla; COELHO, Cláudia- Evaluating the efficacy of hearing aids for tinnitus therapy - A Positron emission tomography study(2022) SIMONETTI, Patricia; ONO, Carla Rachel; CARNEIRO, Camila de Godoi; KHAN, Rafay Ali; SHAHSAVARANI, Somayeh; HUSAIN, Fatima T.; OITICICA, JeanneBrain imaging studies have revealed neural changes in chronic tinnitus patients that are not restricted to auditory brain areas; rather, the engagement of limbic system structures, attention and memory networks are has been noted. Hearing aids (HA) provide compensation for comorbid hearing loss and may decrease tinnitus-related perception and annoyance. Using resting state positron emission tomography our goal was to analyze metabolic and functional brain changes after six months of effective HA use by patients with chronic tinnitus and associated sensorineural hearing loss. 33 age and hearing loss matched participants with mild/moderate hearing loss were enrolled in this study: 19 with tinnitus, and 14 without tinnitus. Participants with tinnitus of more than 6 months with moderate/severe Tinnitus Handicap Inventory (THI) and Visual Analogue Scale (VAS) scores composed the tinnitus group. A full factorial 2X2 ANOVA was conducted for imaging analysis, with group (tinnitus and controls) and time point (pre-intervention and post-intervention) as factors. Six months after HA fitting, tinnitus scores reduced statistically and clinically. Analysis revealed increased glycolytic metabolism in the left orbitofrontal cortex, right temporal lobe and right hippocampus, and reduced glycolytic metabolism in the left cerebellum and inferior parietal lobe within the tinnitus group. The hearing loss control group showed no significant metabolic changes in the analysis. Parsing out the contribution of tinnitus independent of hearing loss, allowed us to identify areas implicated in declines in tinnitus handicap as a result of the intervention. Brain regions implicated in the present study may be part of chronic tinnitus-specific network.
bookPart Terapia Gênica e Células-Tronco(2014) OITICICA, Jeanne; BISSOLI, Milene Massucci; BARBOZA JUNIOR, Luiz Carlos de MelobookPart Etiologia da Deficiência Auditiva(2014) OITICICA, Jeanne; LEZIROVITZ, Karina; BATISSOCO, Ana Carla- Video head impulse test relevance in the early postoperative period after cochlear implantation(2019) BITTAR, Roseli Saraiva Moreira; SATO, Eduardo; RIBEIRO, Douglas Josimo Silva; OITICICA, Jeanne; GRASEL, Signe Schuster; MEZZALIRA, Raquel; TSUJI, Robinson Koji; BENTO, Ricardo FerreiraBackground: Cochlear implantation (CI) is the gold standard therapy for profound or severe sensorineural hearing loss. It is a safe surgical procedure but, because of the proximity of the cochlea and vestibule, postoperative vestibular disorder may occur. Our hypothesis is that the video head impulse test (vHIT) may be a good tool to achieve a topographic diagnosis of dizziness in the early postoperative period after CI. Aims/Objectives: To evaluate patients with instability, imbalance and vertigo between 7 and 14 days after CI procedure. Material and methods: A total of 31patients scheduled for unilateral CI were included in this study. vHIT for horizontal semicircular canal was performed before CI and between days 7 to 14 after the surgery. Results: Six subjects had dizziness complaints after CI: instability (N = 2), imbalance (N = 2) and vertigo (N = 2). The postoperative vHIT test turned abnormal only in subjects with vertigo as compared to the preoperative vHIT test results. Conclusion and significance: vHIT is a good vestibular function test during the first 2 weeks after CI surgery when vertigo is the main complaint
- 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, JeanneHere 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.
bookPart Surdez Neonatal de Origem Genética(2014) OITICICA, Jeanne; LEZIROVITZ, Karina; BATISSOCO, Ana Carla