4 documents found, page 1 of 1
Biomarkers of Presbycusis and Tinnitus in a Portuguese Older Population
Haider, HF; Flook, M; Aparicio, M; Ribeiro, D; Antunes, M; Szczepek, AJ; Hoare, DJ; Fialho, G; Paço, JC; Caria, HIntroduction: Presbycusis or age-related hearing loss (ARHL) is a ubiquitous health problem. It is estimated that it will affect up to 1.5 billion people by 2025. In addition, tinnitus occurs in a large majority of cases with presbycusis. Glutamate metabotropic receptor 7 (GRM7) and N-acetyltransferase 2 (NAT2) are some of the genetic markers for presbycusis. Objectives: To explore patterns of hearing loss and ...
Genetic Basis of Nonsyndromic Sensorineural Hearing Loss in the Sub-Saharan Afr...
Caroça, C; de Matos, TM; Ribeiro, D; Lourenço, V; Martins, T; Campelo, P; Fialho, G; Silva, SN; Paço, J; Caria, HelenaHearing loss (HL) is a common condition with both genetic and environmental causes, and it greatly impacts global health. The prevalence of HL is reportedly higher in developing countries such as the Sub-Saharan African island of São Tomé and Príncipe, where the deaf community is estimated to be less than 1% of the population. We investigated the role of the DFNB1 locus (GJB2 and GJB6 genes) in the etiology of ...
DFNB1 locus analysis in São Tomé and Príncipe population
Caroça, C; Morim de Matos, T; Fialho, G; Paço, J; Caria, H
Spectrum and Frequency of GJB2 Mutations in a Cohort of 264 Portuguese Nonsyndr...
Matos, T; Simões-Teixeira, H; Caria, H; Gonçalves, AC; Chora, J; Correia, MC; Moura, C; Rosa, H; Monteiro, L; O'Neill, A; Dias, O; Andrea, M; Fialho, GOBJECTIVE: To assess the spectrum and prevalence of mutations in the GJB2 gene in Portuguese nonsyndromic sensorineural hearing loss (NSSHL) patients. DESIGN: Sequencing of the coding region, basal promoter, exon 1, and donor splice site of the GJB2 gene; screening for the presence of the two common GJB6 deletions. STUDY SAMPLE: A cohort of 264 Portuguese NSSHL patients. RESULTS: At least one out of 21 differen...