[Adaptation and Validation for European Portuguese of the Auditory Performance Categories-II and Infant-Toddler Meaningful Auditory Integration Scale for Children with Cochlear Implant].

Introduction: The Categories of Auditory Performance II (CAP-II) scale and the Infant-Toddler Meaningful Audit Integration Scale (IT-MAIS) are simple and quick questionnaires that allow assessment of the auditory performance of children with cochlear implant (CI). The aim of this study was to translate, adapt and validate the European Portuguese version of the CAP-II and IT-MAIS scales.

Methods: A total of 85 participants completed the European Portuguese version of the CAP-II and IT-MAIS questionnaires, of which 45 were parents of children with pediatric cochlear implants (9.

The Role of Steroids in the Preservation of Hearing and Vestibular Function in Cochlear Implantation.

Objective: Cochlear implant surgery is guided by principles of atraumatic insertion as to protect the inner ear. Previous studies suggest the potential benefit of steroids in patients undergoing cochlear implantation (CI), although the optimal route of administration has yet to be determined. We aim to systematically review the human studies of hearing and vestibular function preservation in patients undergoing CI receiving perioperative steroids and to discuss their role.

[Translation, Cultural Adaptation and Contributions to the Validation of the Nijmegen Cochlear Implant Questionnaire (NCIQ) for European Portuguese].

Introduction: The Nijmegen Cochlear Implant Questionnaire (NCIQ) scale uses a simple and easily administered questionnaire to evaluate the adaptation of individuals to their cochlear implants. The aim of this study was to validate the NCIQ for European Portuguese, through its translation and cultural adaptation. It also presents the evaluation of reproducibility and the description of the results of this questionnaire in patients using IC.

Pars tensa and tympanicomalleal joint: proposal for a new anatomic classification.

Purpose: The tympanic membrane (TM) belongs to the ear. Despite its place in the ear anatomy, can we give it also a different anatomic classification? The main objective is to clarify the nature of TM, tympanic bone and malleus to propose a new anatomic classification.

Methods: This cadaveric study was performed in two human heads and six fresh temporal bones.

[Quality of Life of Children with Otitis Media and Impact of Insertion of Transtympanic Ventilation Tubes in a Portuguese Population].

Introduction: Quality of life is an important measure for health-outcome evaluation. Although otitis media is one of the most common childhood diseases, its impact on Portuguese children's quality of life is unknown. The aim of this study is to determine the quality of life of Portuguese children with chronic otitis media with effusion and/or recurrent acute otitis media and the short-term impact of transtympanic ventilation tubes, using the Portuguese version of the OM-6 questionnaire, a valid, reliable and sensitive instrument to evaluate the health-related quality of life in children with otitis media.

[Validation of the Otitis Media-6 Questionnaire for European Portuguese].

Introduction: Otitis media is one of the most prevalent childhood diseases. The impact of otitis media on quality of life of Portuguese children is unknown, because of the unavailability of a tool validated in European Portuguese to assess this consequence of otitis media. The Otitis Media-6 questionnaire (Otitis Media-6) is the most frequently used tool to assess health-related quality of life in children with otitis media.

The controversial p.Met34Thr variant in GJB2 gene: Two siblings, one genotype, two phenotypes.

Introduction: Recent advances in molecular genetics have increased the identification of genes and mutations responsible for inherited forms of hearing loss (HL), enabling early detection of these cases. Approximately, 60% of early-onset HL cases are due to genetic causes, of which 70% are non-syndromic. Of these, 75-80% are inherited in an autosomal recessive pattern (DFNB).

Improvement of the embalming perfusion method: the innovation and the results by light and scanning electron microscopy.

Embalming is a chemical process that aims the preservation and sanitization of the human body indefinitely. The technique of embalming is an important tool in teaching and research in anatomy enabling the preservation of cadaveric material in good conditions (lessening any significant structural changes and maintaining the natural appearance). This article presents the results of embalmed cadavers in the course of arterial perfusion, through the use of a perfusion machine, particularly designed to this objective, and which allows the control of the embalming fluid injection process.

Spectrum and frequency of GJB2 mutations in a cohort of 264 Portuguese nonsyndromic sensorineural hearing loss patients.

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.

A novel p.Leu213X mutation in GJB2 gene in a Portuguese family.

Introduction: Hearing loss is the most common sensory disability and is present in about 1.9 per 1000 infants at birth. The DFNB1 locus (13q11-q12) includes the genes GJB2, coding for connexin 26, and GJB6, encoding connexin 30.

The controversial p.Arg127His mutation in GJB2: report on three Portuguese hearing loss family cases.

Mutations in the GJB2 gene account for up to 50% of hereditary nonsyndromic hearing loss in several populations. Over 200 mutations are already described in this gene, and three of them, c.35delG, c.