Recursos de colección

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É um repositório para instituições de ensino e investigação produtoras de literatura científica cuja dimensão ainda não justifica a criação de um repositório próprio. Permite integrar instituições, grupos ou indivíduos na infra-estrutura do projecto, nomeadamente através das pesquisas do Portal RCAAP e da B-On.

Mostrando recursos 1 - 12 de 12

  1. Evidence for biological markers in tinnitus: a systematic review

    Haider, Haúla; Ribeiro, Diogo; Elarbed, Asma; Szczepek, Agnieszka; Martins, Maria; Trigueiros, Nuno; Borrego, Luís; Papoila, Ana; Caria, Helena; Paço, João; Hoare, Derek
    Trabalho apresento em TRI / TINNET Conference 2018, 14-16 março de 2018, Regensburg, Germany

  2. Biomarkers of presbycusis and tinnitus in a Portuguese older population

    Haider, Haúla; Flook, Marisa; Ribeiro, Diogo; Antunes, Marília; Szczepek, Agnieszka; Hoare, Derek; Paço, João; Caria, Helena
    Trabalho apresento em TRI / TINNET Conference 2018, 14-16 março de 2018, Regensburg, Germany

  3. G6PD variants, malaria and sensorineural hearing loss in São Tomé and Príncipe: a case-control study

    Caroça, Cristina; Campelo, Paula; Caria, Helena; Paço, João; Silva, Susana
    Background: 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...

  4. Two portuguese cochlear implanted dizygotic twins: a case report.

    Chora, J.; Simões-Teixeira, H.; Matos, T. D.; Martins, J. H.; Alves, M.; Ferreira, R.; Silva, L.; Ribeiro, C.; Fialho, G.; Caria, H.
    info:eu-repo/semantics/publishedVersion

  5. A Novel p.Leu213X Mutation in GJB2 Gene in a Portuguese Family

    Gonçalves, A. C.; Chora, J.; Matos, T. D.; O'Neill, A.; Escada, P.; Fialho, G.; Caria, H.
    info:eu-repo/semantics/publishedVersion

  6. Rubella in sub-saharan Africa and sensorineural hearing loss: a case control study

    Caroça, Cristina; Vicente, Vera; Campelo, Paula; Chasqueira, Maria; Caria, Helena; Silva, Susana; Paixão, Paulo; Paço, João
    Background: Rubella 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...

  7. Pathophysiology, diagnosis and treatment of somatosensory tinnitus: a scoping review

    Haider, H. F.; Hoare, D. J.; Costa, R. F.; Potgieter, Iskra; Kikidis, D.; Lapira, A.; Nikitas, C.; Caria, H.; Cunha, N.; Paço, J.
    info:eu-repo/semantics/publishedVersion

  8. Spectrum and frequency of gjb2 mutations in a cohort of 264 portuguese nonsyndromic sensorineural hearing loss patients

    Matos, T. D.; Simões-Teixeira, H.; Caria, Helena; Gonçalves, A. C.; Chora, J.; Correia, M. C.; Moura, C.; Rosa, H.; Monteiro, L.; O'Neill, A.; Dias, O.; Andrea, M.; Fialho, G.
    Objective: 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 different GJB2 variants was identified in 80 (30.2%) of the 264 patients analysed. Two mutant alleles were found in 53 (20%) of these probands, of which 83% (44/53) harboured at least one c.35delG allele. Twenty-seven (10.2%) of the probands harboured only...

  9. A7445G mtDNA mutation present in a Portuguese family exhibiting hereditary deafness and palmoplantar keratoderma

    Caria, Helena; Matos, T. D.; Oliveira-Soares, R.; Santos, A. R.; Galhardo, I.; Soares-Almeida, L.; Dias, Ó.; Andrea, M.; Correia, C.; Fialho, G.
    Mitochondrial DNA (mtDNA) A7445G point mutation has been shown to be responsible for familial nonepidermolytic palmoplantar keratoderma (NEPPK) associated with deafness without any additional features. To date, only a few cases have been described. We report a Portuguese pedigree presenting an inherited combination of NEPPK and sensorineural deafness compatible with maternal transmission. Clinical expression and age of onset of NEPPK and deafness were variable. Normal expression patterns of epidermal keratins and filaggrin, intercellular junction proteins including connexin 26, loricrin and cornified envelope proteins, were observed. Molecular analysis revealed that all the affected members, previously screened for Cx26 mutations with negative results, presented the mtDNA A7445G point mutation...

  10. Novel Splice-Site Mutation c.1615-2A>G (IVS14- 2A>G) in the SLC26A4 Gene Causing Pendred Syndrome in a Consanguineous Portuguese Family

    Simões-Teixeira, Helena; Matos, Tiago D.; Marques, Marta Canas; Dias, Óscar; Andrea, Mário; Barreiros, Eduardo; Barreiros, Luís; Moreno, Felipe; Fialho, Graça; Caria, Helena; Castillo, Ignacio del
    info:eu-repo/semantics/publishedVersion

  11. Assessing Noncoding Sequence Variants of GJB2 for Hearing Loss Association.

    Matos, T. D.; Simões-Teixeira, H.; Caria, Helena; Cascão, R.; Rosa, H.; O'Neill, A.; Dias, O.; Andrea, M.E.; Kelsell, D. P.; Fialho, G.
    Involvement of GJB2 noncoding regions in hearing loss (HL) has not been extensively investigated. However, three noncoding mutations, c.-259C>T, c.-23G>T, and c.-23+1G>A, were reported. Also, c.-684 -675del, of uncertain pathogenicity, was found upstream of the basal promoter. We performed a detailed analysis of GJB2 noncoding regions in Portuguese HL patients (previously screened for GJB2 coding mutations and the common GJB6 deletions) and in control subjects, by sequencing the basal promoter and flanking upstream region, exon 1, and 3’UTR. All individuals were genotyped for c.-684 -675del and 14 SNPs. Novel variants (c.-731C>T, c.-26G>T, c.∗45G>A, and c.∗985A>T) were found in controls. A hearing individual homozygous for c.-684...

  12. Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene: Influence of modifiers on 35delG/35delG phenotype

    Hilgert, Nele; Caria, Helena; Van Camp, Guy
    Hereditary hearing loss (HL) is a very heterogeneous trait, with 46 gene identifications for non-syndromic HL. Mutations in GJB2 cause up to half of all cases of severe-to-profound congenital autosomal recessive non-syndromic HL, with 35delG being the most frequent mutation in Caucasians. Although a genotype-phenotype correlation has been established for most GJB2 genotypes, the HL of 35delG homozygous patients is mild to profound. We hypothesise that this phenotypic variability is at least partly caused by the influence of modifier genes. By performing a whole-genome association (WGA) study on 35delG homozygotes, we sought to identify modifier genes. The association study was...

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