Predictive factors of facial palsy after parotidectomy: analysis of 166 operations / Factores predictivos de parálisis facial después de la parotidectomía: análisis de 166 operaciones

OBJETIVOS: La lesión del nervio facial es una de las complicaciones más importantes en la cirugía de la glándula parótida. Este estudio tiene como objetivo identificar posibles factores predictivos de parálisis facial yatrogénica en la parotidectomía. MATERIAL Y MÉTODO: Se realizó un análisis retrospectivo de casos de parotidectomía en el tratamiento de tumores parotídeos realizados en un instituto portugués de oncología durante un periodo de 25 años. Se han revisado los datos sociodemográficos, las comorbilidades del paciente, el procedimiento quirúrgico y la histopatología tumoral. RESULTADOS: La muestra del estudio consistió en un total de 166 pacientes (86 hombres y 80 mujeres), con una edad media de 56,9 +/- 16,8 años. En 62 casos (37,4 %) se observó cierto grado de parálisis facial postoperatoria. La extensión de la cirugía (rho = 0,177; p = 0,023) y el tamaño del tumor (rho = 0,159; p = 0,045) mostraron una correlación con la lesión del nervio facial. Los factores malignidad de la lesión (rho = 0,568; p < 0,001), la extensión de la cirugía (rho = 0,485; p < 0,001) y la ampliación de la escisión a la piel (rho = 0,7211; p < 0,001) se correlacionaron con el sacrificio del nervio facial. El porcentaje de parálisis facial persistente fue solo del 7,6 %. CONCLUSIONES: Los tumores de mayor tamaño y con extensión al lóbulo profundo de la parótida se correlacionan significativamente con la parálisis facial yatrogénica. La malignidad de la lesión y una mayor extensión de la cirugía se correlacionan con el sacrificio del nervio facial

Objectives: Facial nerve injury is one of the most important complications in parotid gland surgery. This study aims to identify possible predictive factors for iatrogenic facial paralysis in parotidectomy. MATERIAL AND METHOD: We performed a retrospective analysis of cases of parotidectomy in the treatment of parotid tumors carried out at a Portuguese Oncology Institute, during a period of 25 years. Socio-demographic data, patient's comorbidities, surgical procedure and tumor histopathology were reviewed. RESULTS: The study sample consisted of a total of 166 patients (86 males and 80 females), with a mean age of 56.9 +/- 16.8 years. In 62 cases (37.4 %), some degree of postoperative facial palsy was observed. The extent of surgery (rho = 0.177; p = 0.023) and tumor size (rho = 0.159; p = 0.045) showed correlation with facial nerve injury. The factors malignancy of the lesion (rho = 0.568; p < 0.001), extension of the surgery (rho = 0.485; p < 0.001) and enlargement of the excision to the skin (rho = 0.7211; p < 0.001) correlated with the facial nerve sacrifice. The percentage of persistent facial palsy was only 7.6%. CONCLUSIONS: Tumors of larger size and with extension to the deep lobe of the parotid are significantly correlated with iatrogenic facial palsy. Malignancy of the lesion and greater extension of surgery correlate with facial nerve sacrifice

Diagnostic accuracy and utility of fine-needle aspiration cytology in therapeutic management of parotid gland tumours.

INTRODUCTION AND OBJECTIVES: The utility of fine-needle aspiration cytology (FNAC) in parotid tumours remains widely debated. This study aims to evaluate the accuracy of FNAC in diagnosing parotid tumours. MATERIALS AND METHODS: We performed a retrospective analysis of patients with tumour disease of the parotid gland treated at a Portuguese Oncology Institute, over a period of 25 years. The preoperative FNAC results were compared with the final histopathological diagnosis. We calculated the sensitivity, specificity, positive predictive value (PPV) and negative predictive value (NPV) of FNAC for malignancy. Association between malignancy on histopathology and FNAC results were evaluated with the Chi-square test. RESULTS: The study sample consisted of 155 patients (77 males and 78 females) with a mean age of 56.6±17.0 years. In 27 cases (17.4%), the FNAC result was indeterminate. In this group of patients there was a higher proportion of malignancy on histology (48.1%) (X2; p<0.001). In the group with a conclusive result on FNAC, the sensitivity and specificity of FNAC for malignancy was 66.7% and 99.0%, respectively. PPV was 94.1% and NPV was 92.8%. CONCLUSIONS: A benign result on FNAC should be used with caution, due to its low sensitivity for malignancy. An indeterminate result on FNAC should raise suspicion for a malignant tumour.

[Quality of Life of Children with Otitis Media and Impact of Insertion of Transtympanic Ventilation Tubes in a Portuguese Population]. / Qualidade de Vida das Crianças com Otite Média e Impacto da Colocação de Tubos de Ventilação Transtimpânicos numa População Portuguesa.

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. MATERIAL AND METHODS: This study was conducted in a tertiary referral center, to where children are referred from primary care and hospital pediatric consultations. The Portuguese version of the OM-6 questionnaire was applied to children with chronic otitis media with effusion and/or recurrent acute otitis media. The instrument was re-administered at two months postoperatively to a group of children who underwent tympanostomy tube placement, to evaluate the change in quality of life with the surgical procedure. RESULTS: The study involved a sample of 169 children, aged between 6 months and 12 years (mean: 4.20 ± 2.05 years). The average score in the survey was 3.3 ± 1.47, of a maximum of 7 (worst quality of life). The domains 'caregiver concerns', 'hearing loss' and 'physical suffering' had the highest scores. The domain 'hearing loss' was correlated with the domain 'speech impairment' (rs = 0.41; p < 0.001) and the domain 'physical suffering' correlated with the domain 'activity limitation' (rs = 0.47; p < 0.001). There was a correlation between the score on 'hearing loss' and the presence of conduction hearing loss (χ2 (6) = 24.662; p = 0.022). Children with chronic otitis media with effusion had lower scores on the domain 'physical suffering', while children with recurrent acute otitis media had lower scores in the domain 'hearing loss' and higher scores in the domain 'emotional distress'. There was an improvement in the quality of life in all the dimensions studied by the questionnaire after surgery. The improvement was large in 55%, moderate in 15% and small in 10% of the cases. The presence of otorrhea postoperatively did not decrease the quality of life improvement achieved with surgery. CONCLUSION: Otitis media has a negative impact on Portuguese children quality of life. Tympanostomy tubes improve quality of life related to the middle ear in most children. The application of validated disease-specific questionnaires allows an enhanced understanding of the impact of otitis media on Portuguese children quality of life and of the success of therapeutic measures.

Introdução: A qualidade de vida é uma medida importante de avaliação de resultados em saúde. Embora a otite média seja uma das doenças mais comuns na infância, o seu impacto na qualidade de vida das crianças portuguesas não é conhecido. O objetivo deste estudo é determinar a qualidade de vida das crianças portuguesas com otite média crónica com efusão e/ou otite média aguda recorrente e o impacto a curto-prazo da colocação de tubos de ventilação transtimpânicos, utilizando a versão portuguesa do questionário OM-6, um instrumento válido, confiável e sensível para avaliar a qualidade de vida relacionada com saúde em crianças com otite média. Material e Métodos: Este estudo foi realizado num hospital de nível terciário, para onde as crianças são referenciadas a partir dos cuidados de saúde primários e da consulta de pediatria hospitalar. O questionário OM-6 foi administrado em crianças com otite média crónica com efusão e/ou otite média aguda recorrente. O instrumento foi readministrado aos dois meses de pós-operatório a um grupo de crianças submetidas a colocação de tubos de ventilação transtimpânicos, para avaliar a alteração da qualidade de vida com o procedimento cirúrgico. Resultados: O estudo envolveu uma amostra de 169 crianças, com idades entre os 6 meses e os 12 anos (média: 4,20 ± 2,05 anos). A pontuação média no questionário foi de 3,3 ± 1,47, num máximo de 7 (pior qualidade de vida). Os domínios 'preocupações do cuidador', 'perda auditiva' e 'sofrimento físico' apresentaram as pontuações mais elevadas. O domínio 'perda auditiva' correlacionou-se com o domínio 'alterações da fala' (rs = 0,41; p < 0,001) e o domínio 'sofrimento físico' correlacionou-se com o domínio 'limitação da atividade' (rs = 0,47; p < 0,001). Observou-se correlação entre a pontuação no domínio 'perda auditiva' e a presença de hipoacusia de condução (χ2 (6) = 24,662; p = 0,022). Crianças com otite média crónica com efusão apresentaram pontuação mais baixa no domínio 'sofrimento físico', ao passo que crianças com otite média aguda recorrente apresentaram pontuação mais baixa no domínio 'perda auditiva' e pontuação mais alta no domínio 'sofrimento emocional'. Registou-se uma melhoria da qualidade vida em todas as dimensões estudadas pelo questionário após o procedimento cirúrgico. A melhoria foi considerada grande em 55%, moderada em 15% e pequena em 10% dos casos. A presença de otorreia no pós-operatório não mostrou comprometer a melhoria da qualidade de vida obtida com o procedimento cirúrgico. Conclusão: A otite média tem um impacto negativo na qualidade de vida das crianças portuguesas. A colocação de tubos de ventilação transtimpânicos melhora a qualidade de vida na maioria das crianças. A aplicação de questionários validados doença-específicos permite uma melhor compreensão do impacto que a otite média apresenta na qualidade de vida das crianças portuguesas e do sucesso do tratamento.

[Validation of the Otitis Media-6 Questionnaire for European Portuguese]. / Validação do Questionário Otitis Media-6 para Português Europeu.

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. This study aims to create a version in the Portuguese language and culturally adapted to Portugal of the otitis media-6 questionnaire. MATERIAL AND METHODS: The Otitis Media-6 questionnaire was translated and culturally adapted to the Portuguese language and population. Then, to assess the instrument psychometric properties, it was applied to a sample of Portuguese children with chronic otitis media with effusion or recurrent acute otitis media. RESULTS: The Portuguese version of Otitis Media-6 questionnaire demonstrated the following psychometric properties: construct validity for baseline (rs = 0.98) and change scores (rs = 0.97), internal consistency (α = 0.780), test-retest reliability (rs = 0.89) and responsiveness to clinical change (t(59) = 10.104). DISCUSSION: The simplicity and brevity of application of the instrument make it ideal for use in research and in clinical practice, enabling a more objective assessment of the extension of the otitis media impact in children quality of life and a more targeted therapeutic decision. CONCLUSION: The Portuguese version of the Otitis Media-6 questionnaire is a valid, reliable and sensitive instrument to evaluate the health-related quality of life in Portuguese children with otitis media.

Introdução: A otite média é uma das doenças mais prevalentes na infância. O impacto da otite média na qualidade de vida das crianças portuguesas não é conhecido, devido à indisponibilidade de um instrumento validado em português europeu capaz de avaliar esta consequência da otite média. O questionário Otitis Media-6 é o instrumento mais frequentemente usado para avaliar a qualidade de vida relacionada com a saúde em crianças com otite média. Este estudo tem como objetivo criar uma versão em língua portuguesa e culturalmente adaptada a Portugal do questionário Otitis Media-6. Material e Métodos: O questionário Otitis Media-6 foi traduzido e culturalmente adaptado à língua e à população portuguesa. Em seguida, para avaliar as propriedades psicométricas do instrumento, o mesmo foi aplicado a uma população de crianças portuguesas com otite média crónica com efusão ou otite média aguda recorrente. Resultados: A versão portuguesa do questionário Otitis Media-6 demonstrou as seguintes propriedades psicométricas: validade de construção para os scores basal (rs = 0,98) e de mudança (rs = 0,97), consistência interna (α = 0,780), confiança teste-reteste (rs = 0,89) e resposta a alteração clínica (t(59) = 10,104). Discussão: A simplicidade e brevidade de aplicação do instrumento tornam-no ideal para utilização em investigação e na prática clínica diária, possibilitando uma avaliação mais objetiva da extensão do impacto da otite média na qualidade de vida da criança e a tomada de decisões terapêuticas mais orientada.Conclusão: A versão portuguesa do questionário Otitis Media-6 é um instrumento válido, confiável e sensível para avaliação da qualidade de vida relacionada com a saúde em crianças portuguesas com otite média.

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). Mutations in GJB2 gene, coding for connexin 26 (Cx26), are the major cause of autosomal recessive hereditary HL, but some GJB2 mutations are yet of unclear or controversial significance. OBJECTIVES: The aim of the present study was to identify the etiology of hearing loss, and correlate genotype-phenotype, in two Portuguese siblings with profound and moderate non-syndromic sensorineural bilateral HL. MATERIAL AND METHODS: The affected subjects and their parents underwent audiological and genetic study. Molecular analysis of GJB2 gene was performed, searching for mutations in the coding region and receptor splicing site by automated sequencing. RESULTS: The onset and the degree of HL were different in the two affected subjects. However, the same GJB2 genotype [p.Met34Thr]+[p.Arg184Pro] was identified in both siblings. The c.551G>C (p.Arg184Pro) and c.101T>C (p.Met34Thr) missense variants were inherited from the father and mother, respectively, both heterozygous carriers of these variants. CONCLUSION: The clinical and genetic data here presented suggest that the non-syndromic sensorineural HL of these two Portuguese siblings might be due to the presence of p.Met34Thr and p.Arg184Pro variants in compound heterozygosity. If so, p.Met34Thr variant could have function as a hypomorphic allele that may cause HL depending on the opposing GJB2 allele. The observed phenotypic variability may not, however, be solely explained by variable expression of this genotype. A putative modifier gene or mutations in another HL-associated gene could probably be contributing to the severe HL in one of the siblings.