ABSTRACT
Abstract Introduction Temporal bone paragangliomas (TBPs) are benign tumors arising from neural crest cells located along the jugular bulbus and the tympanic plexus. In general surgical excision, radiotherapy and wait-and-scan protocols are the main management modalities for TBPs. Objective In this paper we aim to present our clinical experience with TBPs and to review literature data. Methods The patients who were operated for tympanomastoid paraganglioma (TMP) or tympanojugular paraganglioma (TJP) in our clinic in the last 15 years were enrolled in the study. A detailed patient's charts review was performed retrospectively. Results There were 18 (52.9%) cases with TMPs and 16 (47.1%) cases with TJPs, a total of 34 patients operated for TBPs in this time period. The mean age was 50.3 ± 11.7 (range 25-71 years). The most common presenting symptoms were tinnitus and hearing loss for both TMPs and TJPs. Gross total tumor resection was achieved in 17 (94.4%) and 10 (62.5%) cases for TMPs and TJPs, respectively. Five patients (31.2%) with TJP experienced facial palsy following the operation. For all the patients the mean follow-up period was 25.8 months (range 4-108 months). Conclusion In conclusion, based on our findings and literature review, total surgical excision alone or with preoperative embolization is the main treatment modality for TBPs. However radiotherapy, observation protocol and subtotal resection must be considered in cases of preoperative functioning cranial nerves, large tumors and advanced age.
Resumo Introdução Paragangliomas do osso temporal (POT) são tumores benignos derivados de células da crista neural localizados ao longo do bulbo jugular e do plexo timpânico. Em geral, a excisão cirúrgica, a radioterapia e os protocolos de acompanhamento com estudos por imagem são as principais modalidades de conduta para o POT. Objetivo Apresentar nossa experiência clínica com POT e revisar os dados da literatura. Método Os pacientes que foram submetidos a cirurgia para paraganglioma timpanomastoideo (PTM) ou paraganglioma timpanojugular (PTJ) em nossa clínica nos últimos 15 anos foram incluídos no estudo. Realizou-se retrospectivamente uma revisão detalhada dos prontuários dos pacientes. Resultados Houve 18 (52,9%) casos com PTM e 16 (47,1%) com PTJ, portanto, um total de 34 pacientes operados para POT nesse período. A idade média foi de 50,3 ± 11,7 (intervalo de 25-71 anos). Os sinais e sintomas de apresentação mais comuns foram o zumbido e perda auditiva, tanto para PTM quanto para PTJ. A ressecção tumoral completa foi obtida em 17 (94,4%) e 10 (62,5%) casos para PTM e PTJ, respectivamente. Cinco pacientes (31,2%) com PTJ apresentaram paralisia facial decorrente da cirurgia. Para todos os pacientes o tempo médio de seguimento foi de 25,8 meses (intervalo 4-108). Conclusão Com base nos nossos dados e na revisão da literatura, a excisão cirúrgica total isolada ou com embolização pré-operatória é a principal modalidade de tratamento para POT. No entanto, a radioterapia, o protocolo de observação e a ressecção subtotal devem ser considerados no caso de nervos cranianos funcionais no pré-operatório, grandes tumores e idade avançada.
ABSTRACT
This study aimed to assess mutations in GJB2 gene (connexin 26), as well as A1555G mitochondrial mutation in both the patients with profound genetic nonsyndromic hearing loss and healthy controls. Ninety-five patients with profound hearing loss (>90 dB) and 67 healthy controls were included. All patients had genetic nonsyndromic hearing loss. Molecular analyses were performed for connexin 26 (35delG, M34T, L90P, R184P, delE120, 167delT, 235delC and IVS1+1 A-->G) mutations, and for mitochondrial A1555G mutation. Twenty-two connexin 26 mutations were found in 14.7% of the patients, which were 35delG, R184P, del120E and IVS1+1 A-->G. Mitochondrial A1555G mutation was not encountered. The most common GJB2 gene mutation was 35delG, which was followed by del120E, IVS1+1 A-->G and R184P, and 14.3% of the patients segregated with DFNB1. In consanguineous marriages, the most common mutation was 35delG. The carrier frequency for 35delG mutation was 1.4% in the controls. 35delG and del120E populations, seems the most common connexin 26 mutations that cause genetic nonsyndromic hearing loss in this country. Nonsyndromic hearing loss mostly shows DFNB1 form of segregation.