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- Tinnitus, hearing loss and inflammatory processes in an older Portuguese populationPublication . Haider, Haúla F.; Ribeiro, Sara F.; Martins, Catarina; Ribeiro, Diogo; Trigueiros, Nuno; Szczepek, Agnieszka J.; Caria, Helena; Hoare, Derek J.; Paço, João; Borrego, LuísObjective: Tinnitus is associated with various conditions such as presbycusis, infectious, autoimmune and many other diseases. Our study aims to identify an association between inflammatory markers and the presence of tinnitus or hearing loss (HL). Design: Exploratory study including a structured interview, complete ENT observation, audiological and inflammatory markers evaluation. Study Sample: Sixty women and 54 men (55 to 75 years) from the Portuguese population, with or without sensory presbycusis and/or tinnitus. Results: IL10 levels were significantly lower in participants with tinnitus than in those without tinnitus. Moreover, TGF-β was lower in older participants (p = 0.034), IL1α was higher in participants with tonal tinnitus (p = 0.033), and IL2 was lower in participants who reported partial or complete residual inhibition (p = 0.019). Additionally, we observed a negative correlation between tinnitus duration and IL10 levels (r= −.281), and between HSP70 levels and tinnitus loudness (r= −.377). TNF-α and HSP70 levels appears to be sensitive to the time when samples were collected (morning or afternoon). Conclusions: The results of our study showing fluctuations in inflammatory markers along the hearing loss process, reinforce the idea that inflammatory mechanisms are involved in hearing loss pathogenesis but also in tinnitus. IL10 levels appear significantly altered in tinnitus but not in hearing loss.
- Quality of life and psychological distress in portuguese older individuals with tinnitusPublication . Haider, Haúla F.; Ribeiro, Sara F.; Hoare, Derek J.; Fialho, Graça; Hall, Deborah A.; Antunes, Marília; Caria, Helena; Paço, JoãoTinnitus is the perception of a sound without an external source, often associated with adverse psychological and emotional effects leading to impaired quality of life (QoL). The present study investigated QoL and psychological distress in tinnitus patients and analysed the effects of associated comorbidities. Tonal and speech audiometry, tinnitus assessment, and clinical interviews were obtained from 122 Portuguese individuals (aged from 55 to 75). Portuguese versions of the Brief Symptoms Inventory (BSI), the Medical Outcomes Study Short Form Health Survey (MOS SF-36) and Tinnitus Handicap Inventory (THI) were used to evaluate psychological distress, health-related QoL, social difficulties and tinnitus severity. The presence of tinnitus was significantly associated with hearing loss. The increases in tinnitus severity were associated with decreases in QoL, particularly regarding MOS SF-36 subscales “perception of health”, “social functioning”, and “mental health”. Regarding BSI, patients with greater tinnitus severity had more severe psychopathology symptoms, measured with scales “Obsessive–compulsive”, “Depression”, “Anxiety”, “Hostility” and “Phobic Anxiety”. Our study supports the notion of the negative impact of increased tinnitus severity on QoL and psychological distress in older adults. Presented data strengthen the importance of a multidisciplinary approach to tinnitus assessment and treatment.
- Genetic evaluation of prelingual hearing impairment: recommendations of an European Network for Genetic Hearing ImpairmentPublication . Jonard, Laurence; Brotto, Davide; Moreno-Palayo, Miguel A.; Castillo, Ignacio del; Kremer, Hannie; Pennings, Ronald; Caria, Helena; Fialho, Graça
- Differences in the genotype frequencies of genes related to blood pressure regulation: a comparative study between South-West Europe and Peri-equatorial AfricaPublication . Aguiar, Laura; Semente, Ildegário; Ferreira, Joana; Carvalho, Andreia; Silva, Alda P.; Caroça, Cristina; Caria, Helena; Damasceno, Albertino; Laires, Maria J.; Sardinha, Luís; Monteiro, Cristina; Mascarenhas, Mário R.; Faustino, Paula; Inácio, Ângela; Bicho, ManuelBackground: Since the emergence of the genus Homo, hominids have occupied a wide variety of environments, facing different selective pressures. Objectives: The aim this study is to compare genotype frequencies between South-West Europe and Peri-equatorial Africa in genes potentially modulators of blood pressure. Methods: The analyzed sample consisted of 325 individuals from Portugal and 226 individuals from Africa (48 from Mo- zambique and 178 from São Tomé and Príncipe). The following genetic variants were analyzed: intron 4 VNTR in eNOS, rs1050829 in G6PD, -3.7kb α-thalassemic deletion in HBA, rs1800457 in CYB5R3, Hp 1/2 genotype/phenotype in Hp and intron 16 I/D in ACE. Results: Frequencies of genotypes with the 4a allele in eNOS (p<0.001), the G allele in G6PD (p<0.001), the α-3.7 kb in HBA (p <0.001), the C allele in the CYB5R3 (p<0.001) were higher in Peri-equatorial Africa. The Hp 1.1 genotype of Hp has a higher frequency in Peri-equatorial Africa (p=0.002). ACE shows no significant differences. Conclusion: Results show differences in five genetic variants. Conditions of extreme heat and humidity, characteristic of Peri-equatorial Africa, have been associated with increased sodium loss. This study suggests that selected compensatory mechanisms printed in the genome, are nowadays risk factors for hypertension in Peri-equatorial Africa.
- Audiological biomarkers of tinnitus in an older Portuguese populationPublication . Haider, Haúla F.; Ribeiro, Diogo; Ribeiro, Sara F.; Trigueiros, Nuno; Caria, Helena; Borrego, Luís; Pinto, Iola; Papoila, Ana L.; Hoare, Derek J.; Paço, JoãoTinnitus is a phantom sound perceived in the absence of external acoustic stimulation. It is described in a variety of ways (e.g., buzzing, ringing, and roaring) and can be a single sound or a combination of different sounds. Our study evaluated associations between audiological parameters and the presence or severity of tinnitus, to improve tinnitus diagnosis, treatment, and prognosis. Our sample included 122 older participants (63 women and 59 men), aged 55–75 years from the Portuguese population, with or without sensory presbycusis and with or without tinnitus. All participants underwent a clinical evaluation through a structured interview, Ear, Nose, and Throat observation, and audiological evaluation (standard and extended audiometry, psychoacoustic tinnitus evaluation, auditory brainstem responses, and distortion product otoacoustic emissions). The Tinnitus Handicap Inventory was used to measure tinnitus symptom severity. Our data confirmed that the odds of developing tinnitus were significantly higher in the presence of noise exposure and hearing loss. Also, participants who had abrupt tinnitus onset and moderate or severe hyperacusis featured higher odds of at least moderate tinnitus. However, it was in the ABR that we obtained the most exciting and promising results, namely, in wave I, which was the common denominator in all findings. The increase in wave I amplitude is a protective factor to the odds of having tinnitus. Concerning the severity of tinnitus, the logistic regression model showed that for each unit of increase in the mean ratio V/I of ABR, the likelihood of having at least moderate tinnitus was 10% higher. Advancing knowledge concerning potential tinnitus audiological biomarkers can be crucial for the adequate diagnosis and treatment of tinnitus.
- Despite reproductive interference, the net outcome of reproductive interactions among spider mite species is not necessarily costlyPublication . Clemente, Salomé; Santos, Inês; Ponce, Rita; Rodrigues, Leonor; Varela, Susana; Magalhães, SaraReproductive interference is considered a strong ecological force, potentially leading to species exclusion. This supposes that the net effect of reproductive interactions is strongly negative for one, or both, of the species involved. Testing this requires a comprehensive analysis of interspecific reproductive interactions, accounting for the order and timing of mating events, and for their effects on either fertility or fecundity. To this aim, we measured reproductive interactions among spider mites, using a focal species, Tetranychus urticae, and an invasive (T. evansi) and a resident (T. ludeni) species, varying the mating sequence and interval, and measuring the effect of such crosses on fecundity and offspring sex ratio (a measure of fertility, as these species are haplodiploid). We found that mating with heterospecifics affected fecundity and sex ratio negatively or positively, depending on the species involved, and on the order and timing of mating events. Overall, the net effect of reproductive interactions was weak despite strong effects of particular events. In natural situations, the outcome of reproductive interactions will thus hinge upon the frequency of each event.
- Recommendations on Collecting and Storing Samples for Genetic Studies in Hearing and Tinnitus Research.Publication . Szczepek, Agnieszka J.; Frejo, Lidia; Vona, Bárbara; Trpchevska, Natalia; Cederroth, Christopher R.; Caria, Helena; Lopez-Escamez, Jose A.Objectives: Research on the genetic basis of tinnitus is still in its first steps. A group of scientists dedicated to tinnitus genetics within European Tinnitus Network (TINNET) network recognize that further progress requires multicenter collaborative efforts for defining contributing genes. The purpose of the present work is to provide instructions regarding collection, processing, storage, and shipment of samples intended for genetic studies in auditory research. Design: One part of the recommendations has a general character; another part is of particular importance for auditory healthcare practitioners such as otolaryngology physicians, audiologists, and general practitioners. Results: We provide a set of instructions and various options for obtaining samples. We give advice regarding sample processing, storage, and shipment and define the minimal and essential clinical information that should accompany the samples collected for genetic processing. Conclusions: These recommendations offer a basis to standardize and optimize collaborations between geneticists and healthcare practitioners specialized in tinnitus and hearing disorders.
- G6PD variants, malaria and sensorineural hearing loss in São Tomé and Príncipe: a case-control studyPublication . Caroça, Cristina; Campelo, Paula; Caria, Helena; Paço, João; Silva, SusanaBackground: São Tomé and Príncipe (STP) is a least developed country (LDC) on Sub-Saharan Africa, in which was detected a high prevalence of sensorineural Hearing Loss (SNHL). HL is a common condition with both genetic and environmental causes, and it greatly impacts on global health. STP population has leading with additional health problems over the years, such as anaemia and malaria infection. The present study aims to identify the correlation between the most prevalent G6PD variants and the high prevalence of HL in STP population. Methods: A sample of 316 individuals collected during Humanitarian Missions in STP, was retrospectively studied in a case-control approach to evaluate the role of G6PD gene variants in individual susceptibility to HL and it correlation with other potential risk factors. Results: The results obtained showed an increased risk for those cases that have reported malaria infection (OR 1.867, CI 95% [1.107-3.48]) in global population. The same effect of increased risk was found after stratification for male gender (OR 3.721 CI 95% [1.631-8.489]). Conclusions: Our results did not allow us to correlate any specific variant of G6PD gene with HL. However, emphasize the hypothetical correlation between malaria infection and the increased risk for HL.
- Two portuguese cochlear implanted dizygotic twins: a case report.Publication . Chora, J.; Simões-Teixeira, H.; Matos, T. D.; Martins, J. H.; Alves, M.; Ferreira, R.; Silva, L.; Ribeiro, C.; Fialho, G.; Caria, H.
- A Novel p.Leu213X Mutation in GJB2 Gene in a Portuguese FamilyPublication . Gonçalves, A. C.; Chora, J.; Matos, T. D.; O'Neill, A.; Escada, P.; Fialho, G.; Caria, H.