Genetic variants of cancer­associated genes analyzed using next­generation sequencing in small sporadic vestibular schwannomas.

Vestibular schwannoma (VS) is the most common tumor of the cerebellopontine angle. Despite the increasing diagnosis of sporadic VS over the past decade, the use of traditional microsurgeries to treat VS has decreased. This is likely a result of the adoption of serial imaging as the most common initial evaluation and treatment strategy, especially for small-sized VS. However, the pathobiology of VSs remains unclear, and elucidating the genetic information of tumor tissue may reveal novel insights. The present study performed a comprehensive genomic analysis of all exons in the key tumor suppressor and oncogenes from 10 small (<15 mm) sporadic VS samples. The evaluations identified NF2, SYNE1, IRS2, APC, CIC, SDHC, BRAF, NUMA1, EXT2, HRAS, BCL11B, MAGI1, RNF123, NLRP1, ASXL1, ADAMTS20, TAF1L, XPC, DDB2 and ETS1 as mutated genes. The current study could not draw any new conclusions about the relationship between VS-related hearing loss and gene mutations; however, it did reveal that NF2 was the most frequently mutated gene in small sporadic VS.

Successful cochlear implantation in a patient with Epstein syndrome during long-term follow-up.

Epstein syndrome is a rare disease characterized by macrothrombocytopenia, nephritis and progressive sensorineural hearing loss (SNHL). This syndrome is presently recognized as an autosomal dominant disease caused by mutations of non-muscle myosin heavy chain 9 (MYH9). Little information is available about the progress of SNHL, the efficacy of cochlear implants (CI) or the perioperative management of thrombocytopenia in patients with Epstein syndrome. We herein report a case of a patient with Epstein syndrome with the MYH9:c.2105G>A:p.R702H variant who underwent cochlear implantation after 27 years of follow-up for her progressive SNHL. The deterioration rates of hearing were 3.48 dB/year on the right ear and 2.46 dB/year on the left ear. The patient derived benefits from CI and had a speech recognition test result (for sentences) of 93% at 6-months postoperatively. Thrombocytopenia was successfully managed without any bleeding complications by using eltrombopag, an oral thrombopoietic agent, making transfusion of platelets unnecessary. The accurate diagnosis of Epstein syndrome was made only after long-term follow-up as the thrombocytopenia was initially diagnosed as idiopathic thrombocytopenic purpura. This case report highlights the perioperative management of thrombocytopenia, the progress of SNHL and the potential pitfalls of diagnosis.

Examination of risk factors for postoperative vestibular symptoms in patients with cholesteatoma.

BACKGROUND: In cholesteatoma, the prognosis of tympanoplasty has been well discussed in terms of hearing outcomes and residual or recurrent lesions. Postoperative dizziness and vertigo are major complications of tympanoplasty; however, few reports are available. AIMS/OBJECTIVES: We investigated each condition of cholesteatoma postoperative vestibular risk using the STAM system and staging published by EAONO/JOS, as well as findings on bony destruction. MATERIAL AND METHODS: From April 2010 to March 2021, 156 patients (166 ears) with cholesteatoma who underwent primary microscopic tympanoplasty at our hospital were registered. Subjective vestibular symptoms were recorded the day after surgery. RESULTS: Postoperative vestibular symptoms were observed in 13.9% of subjects. All of them were stage II and had both attic and mastoid lesions. Attic (p < .05) and mastoid (p < .01) lesions were risk factors. Multivariate analysis showed that significant differences were found in past histories of vestibular symptoms (p < .05) and exposure of the dura mater (p < .01). CONCLUSIONS AND SIGNIFICANCE: In the exposed dura group, the length of the prominence of the lateral semicircular canal to the middle cranial fossa dura was significantly shorter than that of the non-exposed group (p < .01). Narrow working space and downward operation may increase vestibular risk.

Machine Learning Technique Reveals Prognostic Factors of Vibrant Soundbridge for Conductive or Mixed Hearing Loss Patients.

OBJECTIVES: Vibrant Soundbridge (VSB) was developed for treatment of hearing loss, but clinical outcomes vary and prognostic factors predicting the success of the treatment remain unknown. We examined clinical outcomes of VSB for conductive or mixed hearing loss, prognostic factors by analyzing prediction models, and cut-off values to predict the outcomes. STUDY DESIGN: Retrospective chart review. SETTING: Tertiary care hospital. PATIENTS: Thirty patients who underwent VSB surgery from January 2017 to December 2019 at our hospital. INTERVENTION: Audiological tests were performed prior to and 3 months after surgery; patients completed questionnaires 3 months after surgery. MAIN OUTCOME MEASURES: We used a multiregression and the random forest algorithm for predictions. Mean absolute errors and coefficient of determinations were calculated to estimate prediction accuracies. Coefficient values in the multiregression model and the importance of features in the random forest model were calculated to clarify prognostic factors. Receiver operation characteristic curves were plotted. RESULTS: All audiological outcomes improved after surgery. The random forest model (mean absolute error: 0.06) recorded more accuracy than the multiregression model (mean absolute error: 0.12). Speech discrimination score in a silent context in patients with hearing aids was the most influential factor (coefficient value: 0.51, featured value: 0.71). The candidate cut-off value was 36% (sensitivity: 89%, specificity: 75%). CONCLUSIONS: VSB is an effective treatment for conductive or mixed hearing loss. Machine learning demonstrated more precise predictions, and speech discrimination scores in a silent context in patients with hearing aids were the most important factor in predicting clinical outcomes.