2 documents found, page 1 of 1
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...
Obstructive sleep apneas. A clinical and laboratory study.
Paiva, T; Vasconcelos, P; Leitão, A N; Andrea, MOur study included 42 patients with obstructive sleep apnea (OSAS) confirmed by polysomnography. In these patients we investigated the clinical manifestations, the results of the laboratory examinations, including polysomnography, ORL observations and tests of pulmonary function, as well as the therapeutic results. Our patients presented a serious set of symptoms which included excessive daytime sleepiness, sno...