Browsing by Author "Caria, H"
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- Biomarkers of Presbycusis and Tinnitus in a Portuguese Older PopulationPublication . 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 the role of GRM7 and NAT2 as possible markers of presbycusis and tinnitus in a Portuguese population sample. Materials and Methods: Tonal and speech audiometry, tinnitus assessment, clinical interview, and DNA samples were obtained from patients aged from 55 to 75 with or without tinnitus. GRM7 analysis was performed by qPCR. Genotyping of single nucleotide polymorphisms (SNPs) in NAT2 was performed by PCR amplification followed by Sanger sequencing or by qPCR. Results: We screened samples from 78 individuals (33 men and 45 women). T allele at GRM7 gene was the most observed (60.3% T/T and 33.3% A/T). Individuals with a T/T genotype have a higher risk for ARHL and 33% lower risk for tinnitus, compared to individuals with A/A and A/T genotype, respectively. Being a slow acetylator (53%) was the most common NAT2 phenotype, more common in men (55.8%). Intermediate acetylator was the second most common phenotype (35.9%) also more frequent in men (82.6%). Noise exposed individuals and individuals with 'high frequency' hearing loss seem to have a higher risk for tinnitus. Our data suggests that allele AT of GRM7 can have a statistically significant influence toward the severity of tinnitus. Conclusion: For each increasing year of age the chance of HL increases by 9%. The risk for ARHL was not significantly associated with GRM7 neither NAT2. However, we cannot conclude from our data whether the presence of T allele at GRM7 increases the odds for ARHL or whether the A allele has a protective effect. Genotype A/T at GRM7 could potentially be considered a biomarker of tinnitus severity. This is the first study evaluating the effect of GRM7 and NAT2 gene in tinnitus.
- DFNB1 locus analysis in São Tomé and Príncipe populationPublication . Caroça, C; Morim de Matos, T; Fialho, G; Paço, J; Caria, H
- Pathophysiology, Diagnosis and Treatment of Somatosensory Tinnitus: A Scoping ReviewPublication . Haider, HF; Hoare, DJ; Costa, RF; Potgieter, I; Kikidis, D; Lapira, A; Nikitas, C; Caria, H; Cunha, NT; Paço, JCSomatosensory tinnitus is a generally agreed subtype of tinnitus that is associated with activation of the somatosensory, somatomotor, and visual-motor systems. A key characteristic of somatosensory tinnitus is that is modulated by physical contact or movement. Although it seems common, its pathophysiology, assessment and treatment are not well defined. We present a scoping review on the pathophysiology, diagnosis, and treatment of somatosensory tinnitus, and identify priority directions for further research. Methods: Literature searches were conducted in Google Scholar, PubMed, and EMBASE databases. Additional broad hand searches were conducted with the additional terms etiology, diagnose, treatment. Results: Most evidence on the pathophysiology of somatosensory tinnitus suggests that somatic modulations are the result of altered or cross-modal synaptic activity within the dorsal cochlear nucleus or between the auditory nervous system and other sensory subsystems of central nervous system (e.g., visual or tactile). Presentations of somatosensory tinnitus are varied and evidence for the various approaches to treatment promising but limited. Discussion and Conclusions: Despite the apparent prevalence of somatosensory tinnitus its underlying neural processes are still not well understood. Necessary involvement of multidisciplinary teams in its diagnosis and treatment has led to a large heterogeneity of approaches whereby tinnitus improvement is often only a secondary effect. Hence there are no evidence-based clinical guidelines, and patient care is empirical rather than research-evidence-based. Somatic testing should receive further attention considering the breath of evidence on the ability of patients to modulate their tinnitus through manouvers. Specific questions for further research and review are indicated.
- Rubella in Sub-Saharan Africa and sensorineural hearing loss: a case control studyPublication . Caroça, C; Vicente, V; Campelo, P; Chasqueira, M; Caria, H; Silva, S; Paixão, P; Paço, JRubella infection can affect several organs and cause birth defects that are responsible for congenital rubella syndrome (CRS). Congenital hearing loss is the most common symptom of this syndrome, occurring in approximately 60% of CRS cases. Worldwide, over 100 000 babies are born with CRS every year. There is no specific treatment for rubella, but the disease is preventable by vaccination. Since 1969, the rubella vaccine has been implemented in many countries, but in Africa, only a few countries routinely immunize against rubella. The aim of this study was to estimate the rate of infection from the wild-type rubella virus in São Tomé and Príncipe by determining rubella seroprevalence with a DBS method. The goal of this study was to reinforce the need for implementation of the rubella vaccine in this country. As secondary objectives, the validation of a DBS method was first attempted and an association between seroprevalence and hearing loss was assessed.
- Sickle Cell Trait, Malaria and Sensorineural Hearing Loss–A Case-Control Study from São Tomé and PríncipePublication . Caroça, C; Pereira de Lima, J; Campelo, P; Carolino, E; Caria, H; Paço, J; Nunes-Silva, SBackground: Hearing loss is a problem with higher incidence in South Asia, Asia Pacific and sub-Saharan Africa. In these countries there is also associated history of anemia and malaria. Objective: This study aims to identify a putative role of Beta globin mutation - sickle cell trait and HL in São Tomé and Príncipe population. Methods: A retrospective case-control study of a convenience sample was collected during Otolaryngologist Humanitarian Missions in São Tomé and Príncipe. Control group includes individuals with normal hearing in both ears, and the case group has participants presenting bilateral or unilateral HL. It was evaluated the potential risk factors and sickle cell trait with HL, as well self-report of malaria infection, consanguinity, familial history of HL. The HbS gene point mutation (Glu6Val) was determined by PCR-RFLP. Results: Our results showed a statistical significance between HL - oral language and self-report of HL. Taken altogether, our data did not reveal association between sickle cell trait and HL. However, a statistical association between HL and self-report of malaria was found. Conclusion: No association between sickle cell trait and the high prevalence of HL was found. Self-report of Malaria was found as a risk factor for the development of HL in São Tomé and Príncipe population. The multifactorial profile of HL shall not exclude the relevance of other etiologic factors than Malaria to justify the high prevalence of HL in São Tomé and Príncipe and further investigation must be applied.