Browsing by Author "Campelo, P"
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- Anquilose Estapedo-Vestibular: Estudo Retrospetivo de Cinco Casos em São Tomé e PríncipePublication . Campelo, P; Caroça, C; Tinoco, C; Oliveira e Carmo, D; Paço, JIntroduction: Otosclerosis is a common form of conductive hearing loss characterized by abnormal bone remodeling exclusively in the otic capsule. The prevalence of otosclerosis varies in racial populations and is described as being rare in black African populations. In this paper we aim to report five cases of clinical, and surgically confirmed, otosclerosis in black individuals, in São Tomé and Príncipe. Material and Methods: Since February 2011, Ear, Nose and Throat consultations and surgeries specialty have been carried out at Dr. Ayres de Menezes Hospital in cooperation with the project ‘Health for all’. A retrospective analysis was undertaken of the records of all patients subjected either to stapedectomy or partial stapedectomy until February 2014. Information regarding clinical presentation, audiometric data and surgery reports was recorded. Results: Five adult patients underwent stapedectomy or partial stapedectomy. All of them presented with normal otoscopy, conductive or mixed hearing loss on audiogram and normal tympanometry with absent stapedial reflexes. None of the patients had signs of infection or history of head trauma. Three cases showed improvement in the air-bone gap after surgery. The other two were lost to follow-up. Discussion: We documented and surgically confirmed five cases of clinical otosclerosis in this population. A thematic review was carried out and concluded that, despite being described as a rare event in this race, available literature on this topic is not enough to state that there is lower prevalence of otosclerosis amongst the African population. Conclusion: Even if not common, otosclerosis cannot be disregarded as a possible cause for conductive hearing loss among the population of São Tomé and Principe.
- Genetic Basis of Nonsyndromic Sensorineural Hearing Loss in the Sub-Saharan African Island Population of São Tomé and Príncipe: The Role of the DFNB1 Locus?Publication . 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 nonsyndromic sensorineural hearing loss (NSSHL) in São Tomé and Príncipe. A sample of 316 individuals, comprising 136 NSSHL patients (92 bilateral, 44 unilateral) and 180 controls, underwent a clinical and audiological examination. Sequencing of the GJB2 coding region and testing for the (GJB6-D13S1830) and del(GJB6-D13S1854) GJB6 deletions were performed. A total of 311 out of 316 individuals were successfully analyzed regarding the GJB2 and GJB6 genetic variations, respectively. The frequency of the GJB2 coding mutations in patients and controls was low. Some of those coding mutations are the most commonly found in Eurasian and Mediterranean populations and have also been identified in Portugal. None of the GJB6 deletions was present. The presence of certain coding variants in São Tomé and Príncipe suggests a non-Sub-Saharan genetic influx and supports the previously reported genetic influx from European (mainly Portuguese) ancestors. In summary, DFNB1 locus does not appear to be a major contributor to NSSHL in São Tomé and Príncipe. However, the presence of both pathogenic and likely pathogenic mutations in GJB2 suggests that GJB2-related NSSHL might still occur in this population, warranting further research on GJB2 testing in NSSHL cases.
- 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.
- SensiHvity and specificity of self-reported hearing lossPublication . Caroça, C; Campelo, P; Paço, J
- 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.