Tympanic membrane retractions in patients with Williams Syndrome : a controlled study

Introduction The role of elastin in tympanic retractions and chronic otitis media is not well established. Williams Syndrome (WS), a pathology related to a mutation in the elastin gene, could generate tympanic retractions. Objective To compare the prevalence of tympanic retractions among patients with WS and controls. Methods WS patients (n = 43 ears) and controls (n = 130 ears) were evaluated by digital otoscopic examination and the degree of tympanic membrane retraction was classified by 2 blinded experienced otolaryngologists. Results The agreement rate between the evaluators was 71.1% for pars tensa and 65% for pars flaccida retraction (p < 0.001). The pars tensa and pars flaccida retractions are present in patients with WS after an adjusted residue of respectively - 2.8 and - 2.6 (p = 0.011 and p = 0.022) compared with controls. Conclusions Tympanic membrane retractions are not more common in the WS group when compared with controls

The Genetic Architecture of Noise-Induced Hearing Loss: Evidence for a Gene-by-Environment Interaction.

The discovery of environmentally specific genetic effects is crucial to the understanding of complex traits, such as susceptibility to noise-induced hearing loss (NIHL). We describe the first genome-wide association study (GWAS) for NIHL in a large and well-characterized population of inbred mouse strains, known as the Hybrid Mouse Diversity Panel (HMDP). We recorded auditory brainstem response (ABR) thresholds both pre and post 2-hr exposure to 10-kHz octave band noise at 108 dB sound pressure level in 5-6-wk-old female mice from the HMDP (4-5 mice/strain). From the observation that NIHL susceptibility varied among the strains, we performed a GWAS with correction for population structure and mapped a locus on chromosome 6 that was statistically significantly associated with two adjacent frequencies. We then used a "genetical genomics" approach that included the analysis of cochlear eQTLs to identify candidate genes within the GWAS QTL. In order to validate the gene-by-environment interaction, we compared the effects of the postnoise exposure locus with that from the same unexposed strains. The most significant SNP at chromosome 6 (rs37517079) was associated with noise susceptibility, but was not significant at the same frequencies in our unexposed study. These findings demonstrate that the genetic architecture of NIHL is distinct from that of unexposed hearing levels and provide strong evidence for gene-by-environment interactions in NIHL

Facial nerve hemangioma of the lateral portion of the internal acoustic canal : a case report and a review of literature

Introduction facial nerve hemangiomas (FNH) are rare tumors. Although it can occur in any portion of the nerve, it predominantly appears near the geniculate ganglion. We present a case of facial nerve hemangioma of an unusual location. Case Report A 30-year-old woman presented with right-sided severe hearing loss and progressive facial palsy. Magnetic resonance showed a 5 mm lesion in the lateral portion of the right internal auditory canal. Due to facial palsy, the patient was submitted to a translabyrinthine approach and a total tumor resection, followed by hypoglossal-facial nerve anastomosis. Discussion The facial nerve is susceptible in its path to expansive lesions, which have high morbidity. FNH is a rare and difficult-to-diagnose lesion. Computerized tomography and nuclear magnetic resonance can be used in its diagnosis. The differential diagnosis of FNH includes, in addition to schwannomas, meningiomas, cholesteatomas, paragangliomas, and other temporal bone tumors. There is no well-established consensus on the best approach. Because of its slow growth and benign behavior, some studies suggest conservative treatment and serial imaging. However, surgery is the cornerstone of treatment, as it is the only curative option. Conclusion FNHs are often small but very symptomatic. Its high morbidity demands early diagnosis and, sometimes, surgical treatment

Noise exposure and distortion product otoacoustic emission suprathreshold amplitudes : a genome-wide association study

Background: Although several candidate-gene association studies have been conducted to investigate noise-induced hearing loss (NIHL) in humans, most are underpowered, unreplicated, and account for only a fraction of the genetic risk. Mouse genome-wide association studies (GWASs) have revolutionized the field of genetics and have led to the discovery of hundreds of genes involved in complex traits. The hybrid mouse diversity panel (HMDP) is a collection of classic inbred and recombinant inbred strains whose genomes have been either genotyped at high resolution or sequenced. To further investigate the genetics of NIHL, we report the first GWAS based on distortion product otoacoustic emission (DPOAE) measurements and the HMDP. Methods: A total of 102 strains (n = 635) from the HMDP were evaluated based on DPOAE suprathreshold amplitudes before and after noise exposure. DPOAE amplitude variation was set at 60 and 70 dB SPL of the primary tones for each frequency separately (8, 11.3, 16, 22.6, and 32 kHz). These values provided an indirect assessment of outer hair cell integrity. Six-week-old mice were exposed for 2 h to 10 kHz octave-band noise at 108 dB SPL. To perform local expression quantitative trait locus (eQTL) analysis, gene expression microarray profiles were generated using cochlear RNA from 64 hybrid mouse strains (n = 3 arrays per strain). Results: Several new loci were identified and positional candidate-genes associated with NIHL were prioritized, especially after noise exposure (1 locus at baseline and 5 loci after exposure). A total of 35 candidate genes in these 6 loci were identified with at least 1 probe whose expression was regulated by a significant cis-eQTL in the cochlea. After careful analysis of the candidate genes based on cochlear gene expression, 2 candidate genes were prioritized: Eya1 (baseline) and Efr3a (post-exposure). Discussion and Conclusion: For the first time, an association analysis with correction for population structure was used to map several loci for hearing traits in inbred strains of mice based on DPOAE suprathreshold amplitudes before and after noise exposure. Our results identified a number of novel loci and candidate genes for susceptibility to NIHL, especially the Eya1 and Efr3a genes. Our findings validate the power of the HMDP for detecting NIHL susceptibility genes

Image-guided temporal bone dissection course

Introduction: Temporal bone anatomy is complex and demands a profound anatomical knowledge. Association between surgery and imaging helps in the process of learning three-dimensional (3D) anatomy and surgical techniques. High definition temporal bone imaging can play an important role in dissection training. Objective: To describe a computed tomography (CT) image-guided temporal bone dissection course for surgical training in otolaryngology and to verify the satisfaction level of the students with the course. Methods: Descriptive research. The course took place at a research laboratory, with three experienced temporal bone surgeons. The participants were 12 otolaryngology residents. The laboratory has 7 modern workstations with microscope and monitors linked with a computerized video system. Cadaveric temporal bones were donated to the university. Imaging acquisition of the cadaveric temporal bones used in the course was performed in a multislice CT scanner. The CT images of cadaveric temporal bones were available with real-time access on the laboratory monitor's screens during dissections. Results: A total of 13 temporal bones were included for dissection. Students had the opportunity to view on the same screen, simultaneously, both the dissection video and the respective CT images of their temporal bone anatomical specimens. This allowed correlating surgical and imaging aspects of temporal bone anatomy. At the end of the course, participants answered a satisfaction survey. Conclusion: Considering imaging methods are routinely used during most otologic surgeries, detailed knowledge of CT imaging should be explored in conjunction with the temporal bone anatomical dissection

SARS-CoV-2 infection with bilateral intralabyrinthine hemorrhage

A 47-year-old woman presented with the complaint of sudden hearing loss associated with vertigo. Serological testing was positive for IgM and negative for IgG COVID-19 antibodies, with no other associated factors. Magnetic resonance imaging of the brain showed bilateral intralabyrinthine hemorrhage

Surgical approaches to petroclival meningiomas Part 2 : narrative review of what we learned with 30 cases

Antecedentes: La resección quirúrgica de los meningiomas petroclivales es un desafío debido a su ubicación profunda y su relación con las estructuras neurovasculares vitales. Por lo general, son lesiones benignas, pero pueden involucrar o infiltrar huesos en la base del cráneo, la duramadre y el tronco encefálico. Esto hace que la extirpación total sea muy difícil o imposible sin causar déficits neurológicos. El objetivo de este estudio es revisar los abordajes quirúrgicos utilizados para tratar los meningiomas petroclivales y las lecciones que hemos aprendido en el manejo quirúrgico de 30 casos. Métodos: Serie de casos de 30 meningiomas petroclivales. Al comienzo de nuestra serie, utilizamos el abordaje petroso para todos los casos, pero con la adquisición de experiencia comenzamos a indicar cada vez más el abordaje retrosigmoideo, reservando los abordajes petrosos y cráneo-orbito cigomático para casos seleccionados. Resultados: Debido a la dificultad de acceso, los meningiomas petroclivales generalmente requieren diferentes abordajes quirúrgicos y presentan diferentes dificultades quirúrgicas. Hay tres abordajes principales: fronto-orbito-cigomático y variantes; petroso y variantes; y retrosigmoideo, pudiendo ser combinados. La elección del abordaje quirúrgico generalmente se basa en la ubicación y extensión del tumor, la forma del cráneo y la participación de las estructuras venosas, y la experiencia del cirujano. Conclusión: Los meningiomas petroclivales son raros y complejos en la base del cráneo. Elegir el abordaje correcto es crucial para un resultado quirúrgico exitoso.Background: The surgical ressection of petroclival meningiomas is challenging due to its deep location and relationship with vital neurovascular structures. Usually they are benign injuries, but they can involve or infiltrate skull base bones, dura mater and brainstem. This makes the total removing very difficult or impossible without causing neurological deficits. The objective of this study is to review the surgical approaches used on the treatment of petroclival meningiomas and the knowledge which we achieved upon the surgical management of 30 cases. Methods: Series of 30 petroclival meningioma-cases. In the beginning of our series we used petrous approach for all the cases, however, with the acquiring of experience, we are indicating the retrosigmoid approach, leaving the petrous and skull-orbito-zigomatics approaches for selected cases. Results: Owing to the difficulty of the access, the petroclival meningiomas usually require different surgical approaches and have distint surgical difficulties. There are three main approaches: fronto-orbito-zigomatics and variants; petrous and variants and retrosigmoid, and they can be combined. The choice for a surgical approach is usually on the location and size of the tumor, on the skull shape, the involvement of venous structures and according to the surgeon´s experience. Conclusion: Petroclival meningiomas are rare and complex on the skull base. The adequate choice is crucial to achieve the good surgical result

COLESTEATOMA DO ÁPEX PETROSO: UM RARO TUMOR

Introduction: Cholesteatoma, although relatively rare, presents significant challenges in clinical practice. Despite decades of research, its cause remains complex and elusive. Objective: This review aimed to summarize key findings on the epidemiology, pathophysiology, diagnosis and surgical management of cholesteatoma, highlighting current knowledge gaps and emerging trends in the field. Method: Narrative review carried out in the PubMed and Scielo databases. The search used the following keywords: “cholesteatoma, petros apex, minimally invasive surgical procedures”. The inclusion criteria comprised review articles, pre-clinical and clinical research published, written in Portuguese and English and available in complete text. The selected articles were analyzed based on the technologies covered, future perspectives, challenges, diseases mentioned and the central idea of the article. Result: 36 articles were included. Conclusion: Cholesteatoma is important in medical practice, despite being relatively uncommon in the general population. However, there are still doubts about its cause, but its diagnosis has been expanded through imaging tests in an attempt to reduce “second-look” operations and avoid them. Another field with constant growth is surgical treatment, since the complex anatomy requires that new techniques be managed to reduce injuries to important and vital structures in the region.Introdução: O colesteatoma, embora relativamente raro, apresenta desafios significativos na prática clínica. Apesar de décadas de pesquisa, sua causa permanece complexa e evasiva. Objetivo: Esta revisão pretendeu resumir as principais descobertas sobre a epidemiologia, fisiopatologia, diagnóstico e manejo cirúrgico do colesteatoma, destacando lacunas de conhecimento atuais e tendências emergentes no campo. Método: Revisão narrativa realizada nas bases PubMed e Scielo. A busca utilizou as seguintes palavras-chave: “colesteatoma, ápice petros, procedimentos cirúrgicos minimamente invasivos” e suas versões ao inglês Os critérios de inclusão compreenderam artigos de revisão, pesquisas pré-clínicas e clínicas publicados, escritos em português e inglês e disponíveis em texto completo. Os artigos selecionados foram analisados com base nas tecnologias abordadas, perspectivas futuras, desafios, doenças referidas e ideia central do artigo. Resultado: Foram incluídos 36 artigos. Conclusão: O colesteatoma tem importância na prática médica, apesar de ser relativamente pouco frequente na população em geral. No entanto, ainda existem dúvidas sobre sua causa, mas seu diagnóstico tem sido ampliado atavés de exames de imagem na tentativa de redução das operações de “segundo-olhar”, evitando-as. Outro campo com crescimento constante é o tratamento cirúrgico, uma vez que a anatomia complexa exige que novas técnicas sejam manejadas para diminuir lesões de estruturas importantes e vitais da região