Abstract Introduction Adolescents with cochlear implants may have difficulty developing language and memory abilities. Objective The primary objectives of this study are (1) to evaluate the language skills and verbal working memory performance of early and late diagnosed-intervened cochlear implanted adolescents and (2) to investigate the relationship between the verbal working memory and phonemic analysis skills in adolescents with cochlear implant. Methods This study included 72 participants with cochlear implant aged between 10 and 18 years. The participants were divided into two groups; those who had first hearing aid at the age of 6 months at the latest and had a first cochlear implant in at least one ear at the latest at 24 months were included in the early group, all the others were in the late group. The phonemic analysis test, a subtest of the test of language development: Primary, 4th edition (TOLD: P-4) – Turkish version, was used to assess language-based abilities, and the meaningless word repetition (MWR) test was utilized to assess verbal working memory. Results The adolescents with cochlear implants who received early diagnosis and intervention performed statistically significantly better in phonemic analysis scores and verbal working memory tests (p < 0.001). A statistically significant relationship was found between phonemic analysis and verbal working memory skills (Pearson, r = 0.567 and r = 0.659, p < 0.001). Conclusions Rehabilitation of phonological skills can contribute to the development of verbal working memory in adolescents with cochlear implants. There is a need for further studies on this issue with more detailed tests.

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 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: Mucopolissacaridose (MPS) é uma doença hereditária de depósito lisossômico, decorrente da deficiência das enzimas que influenciam o metabolismo dos glicosaminoglicanos (GAGs). A incidência de MPS é de 1/25.000 habitantes, resultante de herança autossômica recessiva (exceto no caso de MPS II). MPS se apresenta na forma de sete tipos diferentes e, em cada tipo, ocorre uma deficiência congênita distinta de enzimas lisossômicas. Embora em pacientes com MPS os achados clínicos não sejam geralmente observados, a doença progride em seu curso natural e costuma levar a óbito pacientes muito jovens. Dismorfismo facial, retardo de crescimento, retardo mental e displasia esquelética ou articular são os sinais e sintomas mais frequentemente observados nesses pacientes. Objetivo: A finalidade do presente estudo foi apresentar os tipos de perda auditiva e os achados timpanométricos de pacientes com MPS encaminhados para nossa clínica com suspeita de perda auditiva. Método: Em seguida ao exame otorrinolaringológico, nove pacientes com diferentes tipos de MPS, foram submetidos a avaliações imitanciométricas e testes audiométricos de acordo com sua faixa etária eficiência física e mental, no intuito de identificar seus limiares auditivos. Resultados: Os achados audiométricos dos nove pacientes acompanhados por MPS foram descritos separadamente para cada caso. Conclusão: Baseado na alta frequência de perda auditiva em pacientes com MPS, avaliação audiológica precoce e detalhada é altamente desejável. Para tanto, é importante que sejam realizados avaliações multidisciplinares periódicas e sistemáticas.

ABSTRACT INTRODUCTION: Mucopolysaccharidosis is a hereditary lysosomal storage disease, which develops due to a deficiency in the enzymes that play a role in the metabolism of glycosaminoglycans (GAG). The incidence of mucopolysaccharidosis is 1/25,000, with autosomal recessive inheritance (except for MPS II). Mucopolysaccharidosis occurs in seven different types, each with a different congenital deficiency of lysosomal enzymes. In mucopolysaccharidosis patients, even though progression of clinical findings is not prominent, the disease advances and causes death at early ages. Facial dysmorphism, growth retardation, mental retardation, and skeletal or joint dysplasia are the most frequently found symptoms in these patients. OBJECTIVE: The purpose of our study is to present the types of hearing loss types and tympanometric findings of patients with mucopolysaccharidosis referred to our clinic with suspicion of hearing loss. METHODS: After otorhinolaryngological examination, 9 patients with different types of mucopolysaccharidosis, underwent to immittance and audiometric evaluations, performed according to their physical and mental abilities, and ages, in order to determine their hearing thresholds. RESULTS: The audiometric findings of the 9 patients followed with mucopolysaccharidosis were reported separately for each case. CONCLUSION: Based on the high frequency of hearing loss in mucopolysaccharidosis patients, early and detailed audiological evaluations are highly desirable. Therefore, regular and systematic multidisciplinary evaluations are very important.

INTRODUÇÃO: O carcinoma escamoso basaloide (CEB) é um raro subtipo do carcinoma de célula escamosa (CCE). Em decorrência de sua raridade, os aspectos clínicos e prognósticos dessa variante não são bem conhecidos. OBJETIVO: Determinar a frequência de CEB e de outras variantes do CCE entre todos os casos de CCE da laringe, assim como os aspectos clínicos e prognósticos da variante CEB. MÉTODOS: Trata-se de um estudo de coorte retrospectivo. Nível de evidência: 2b Os registros dos pacientes tratados cirurgicamente para CCE de laringe em nossa instituição entre 2007 e 2013 foram retrospectivamente revisados. RESULTADOS: Foram anotados 198 pacientes tratados cirurgicamente para CCE de laringe. A frequência das variantes de CCE diferentes da variante clássica foi 10,1% (20/198). A variante de CCE mais comum foi CEB (6,6%). Por ocasião da apresentação inicial, 11 (84,6%) pacientes com CEB estavam em estágio avançado (p > 0,05). Os percentuais de sobrevida geral após três anos e de sobrevida livre da doença foram 63% e 53%, respectivamente. CONCLUSÃO: A variante CEB pode ser mais comum do que o informado anteriormente. Considerando que praticamente metade dos pacientes sofre recorrência da doença em seu período inicial, devem ser introduzidas estratégias terapêuticas multimodais no tratamento inicial; além disso, recomendamos enfaticamente um cuidadoso seguimento para essa agressiva variante do CCE.

INTRODUCTION: Basaloid squamous cell carcinoma (BSCC) is a rare subtype of squamous cell carcinoma (SCC). Because of its rarity, both clinical and prognostic features of this variant are not well known. OBJECTIVE: In this study, we aimed to determine the frequency of BSCC and other SCC variants among all laryngeal SCC cases, and to determine clinical and prognostic features of BSCC variant. Study design: retrospective cohort study. Evidence level: Level 2b. MATERIAL AND METHODS: Records of the patients who had laryngeal SCC surgically treated at our institute between 2007 and 2013 were retrospectively reviewed. RESULTS: Among 198 subjects who had laryngeal SCC surgically treated, the frequency of the variants of SCC other than classical variant was 10.1% (20/198). The most common SCC variant was BSCC (6.6%). Eleven (84.6%) patients with BSCC were at an advanced stage at the presentation (p > 0.05). The 3-year overall survival and disease-free survival rates were 63% and 53% respectively. CONCLUSION: BSCC variant may be more common than previously reported. Since almost the half of patients experiences disease recurrence in the early period, multimodal treatment strategies should be employed at initial treatment, and a close follow-up is strongly recommended for this aggressive SCC variant.