Hereditary hearing impairment (HHI) is a common but heterogeneous clinical entity caused by mutations in a plethora of deafness genes. Research over the past few decades has shown that the genetic epidemiology of HHI varies significantly across populations. In this study, we used different genetic examination strategies to address the genetic causes of HHI in a large Taiwanese cohort composed of >5000 hearing-impaired families. We also analyzed the clinical features associated with specific genetic mutations. Our results demonstrated that next-generation sequencing-based examination strategies could achieve genetic diagnosis in approximately half of the families. Common deafness-associated genes in the Taiwanese patients assessed, in the order of prevalence, included GJB2, SLC26A4, OTOF, MYO15A, and MTRNR1, which were similar to those found in other populations. However, the Taiwanese patients had some unique mutations in these genes. These findings may have important clinical implications for refining molecular diagnostics, facilitating genetic counseling, and enabling precision medicine for the management of HHI.

Cochlear implantation is the treatment of choice for children with profound sensorineural hearing impairment (SNHI), yet the outcomes of cochlear implants (CI) vary significantly across individuals. To investigate the CI outcomes in pediatric patients with SNHI due to various etiologies, we prospectively recruited children who underwent CI surgery at two tertiary referral CI centers from 2010 to 2021. All patients underwent comprehensive history taking, next generation sequencing (NGS)-based genetic examinations, and imaging studies. The CI outcomes were evaluated using Categories of Auditory Performance (CAP) and Speech Intelligibility Rating (SIR) scores. Of the 160 pediatric cochlear implantees (76 females and 84 males) included in this study, comprehensive etiological work-up helped achieve clinical diagnoses in 83.1% (133/160) of the patients, with genetic factors being the leading cause (61.3%). Imaging studies identified certain findings in 31 additional patients (19.3%). Four patients (2.5%) were identified with congenital cytomegalovirus infection (cCMV), and 27 patients (16.9%) remained with unknown etiologies. Pathogenic variants in the four predominant non-syndromic SNHI genes (i.e., SLC26A4, GJB2, MYO15A, and OTOF) were associated with favorable CI outcomes (Chi-square test, p = 0.023), whereas cochlear nerve deficiency (CND) on imaging studies was associated with unfavorable CI outcomes (Chi-square test, p < 0.001). Our results demonstrated a clear correlation between the etiologies and CI outcomes, underscoring the importance of thorough etiological work-up preoperatively in pediatric CI candidates.

The study demonstrated that MISS MLS was effective on QOL in selected patients for treating OSA patients who are unresponsive to conservative OSA therapy.

Objective: To further elucidate the role of balloon Eustachian tuboplasty (BET) in tympanoplasty, we conducted a study to compare the outcomes of tympanoplasty with and without BET for the treatment of chronic suppurative otitis media (CSOM) with obstructive Eustachian tube dysfunction (OETD). Study Design: Case control study. Setting: Tertiary referral center. Patients: A total of 70 ears diagnosed with CSOM (tubotympanic type) and OETD were included in this study. Thirty-five patients were prospectively enrolled for BET and tympanomastoidectomy between February 2018 and June 2019. Thirty-five control subjects were matched by sex and age and retrospectively enrolled for tympanomastoidectomy between July 2016 and January 2018. Interventions: BET, tympanomastoidectomy. Main Outcome Measures: The graft take rate, hearing levels, and Eustachian tube function test results. Results: The graft take success rate was higher in the BET group (80.0%; 28/35) than in the control group (68.6%; 24/35). However, the difference was not statistically significant. The average air-bone gap (ABG) improvement was 10.93 ± 7.70 dB in the BET group and 7.11 ± 8.08 dB in the control group, with a statistically significant between-group difference (p = 0.033). Conclusions: Our findings suggest that BET can objectively and subjectively improve the Eustachian tube function, with a slight but significant improvement in ABG despite the lack of a clinically significant improvement overall. However, it does not affect the graft take rate. In summary, BET could be used as an adjunctive procedure in the treatment of CSOM with OETD.