Clinical presentation is heterogeneous for autosomal dominant nonsyndromic hearing loss (ADNSHL). Variants of KCNQ4 gene is a common genetic factor of ADNSHL. Few studies have investigated the association between hearing impairment and the variant c.546C>G of KCNQ4. Here, we investigated the phenotype and clinical manifestations of the KCNQ4 variant. Study subjects were selected from the participants of the Taiwan Precision Medicine Initiative. In total, we enrolled 12 individuals with KCNQ4 c.546C>G carriers and 107 non-carriers, and performed pure tone audiometry (PTA) test and phenome-wide association (PheWAS) analysis for the patients. We found that c.546C>G variant was related to an increased risk of hearing loss. All patients with c.546C>G variant were aged >65 years and had sensorineural and high frequency hearing loss. Of these patients, a third (66.7%) showed moderate and progressive hearing loss, 41.7% complained of tinnitus and 16.7% complained of vertigo. Additionally, we found a significant association between KCNQ4 c.546C>G variant, aortic aneurysm, fracture of lower limb and polyneuropathy in diabetes. KCNQ4 c.546C>G is likely a potentially pathogenic variant of ADNSHL in the elderly population. Genetic counseling, annual audiogram and early assistive listening device intervention are highly recommended to prevent profound hearing impairment in this patient group.

This meta-analysis investigates the prognostic value of MRI-based radiomics in nasopharyngeal carcinoma treatment outcomes, specifically focusing on overall survival (OS) variability. The study protocol was registered with INPLASY (INPLASY202420101). Initially, a systematic review identified 15 relevant studies involving 6243 patients through a comprehensive search across PubMed, Embase, and Web of Science, adhering to PRISMA guidelines. The methodological quality was assessed using the Quality in Prognosis Studies (QUIPS) tool and the Radiomics Quality Score (RQS), highlighting a low risk of bias in most domains. Our analysis revealed a significant average concordance index (c-index) of 72% across studies, indicating the potential of radiomics in clinical prognostication. However, moderate heterogeneity was observed, particularly in OS predictions. Subgroup analyses and meta-regression identified validation methods and radiomics software as significant heterogeneity moderators. Notably, the number of features in the prognosis model correlated positively with its performance. These findings suggest radiomics’ promising role in enhancing cancer treatment strategies, though the observed heterogeneity and potential biases call for cautious interpretation and standardization in future research.

Carotid blowout syndrome (CBS) is a rare but life‐threatening complication of head and neck cancer, with endovascular intervention as the preferred treatment, while surgical ligation remains critical when endovascular management is not feasible. We describe a 59‐year‐old man with oropharyngeal carcinoma (cT4bN0M0) who had achieved clinical remission after concurrent chemoradiation. Two months after completing treatment, he experienced his first episode of CBS. As immediate endovascular intervention was not feasible at that time, surgical ligation of the left common carotid artery (CCA) was performed as a life‐saving measure. He remained stable for 2 months until massive oral bleeding recurred, originating from a pseudoaneurysm of the extracranial internal carotid artery (ICA) distal to the previous ligation. As the proximal CCA had already been ligated and thus occluded, endovascular management was not possible in the second instance of CBS. Therefore, surgical ligation was performed via a preauricular infratemporal approach with intraoperative navigation. The pseudoaneurysm was successfully controlled by ligating the proximal and distal feeding vessels. The patient remained free from rebleeding for 3 years. This case demonstrates that infratemporal ICA ligation is a feasible and life‐saving option when CBS occurs distal to a previously sacrificed carotid artery and endovascular treatment is not practical.

Olfactory dysfunction (OD) is a common sensory disorder that can substantially impair daily functioning and quality of life, yet objective psychophysical testing does not fully capture its patient-perceived burden. This prospective validation study translated and culturally adapted the Questionnaire of Olfactory Disorders–Negative Statements (QOD-NS) and its seven-item short version (svQOD-NS) into Traditional Chinese and evaluated their validity, reproducibility, and agreement. Between June 2025 and April 2026, 120 participants were enrolled at Taichung Veterans General Hospital, including 40 normosmic volunteers, 40 patients with hyposmia, and 40 with anosmia. All participants completed both questionnaires in randomized order. Normosmic participants repeated both questionnaires after at least 1 week. Olfactory function was classified using a phenyl ethyl alcohol odor detection threshold test. Mean item scores were compared across groups, and agreement was evaluated with paired comparisons, Bland–Altman analysis, and Spearman rank correlations. Both Taiwan-adapted Traditional Chinese instruments clearly discriminated participants with olfactory dysfunction from normosmic participants (p

Objectives: This study explored genetic and drug-induced hearing loss by focusing on the m.827A>G variation of the MT-RNR1 gene. In particular, we investigated the variant’s frequency, its association with hearing loss, and its potential interaction with gentamicin-induced damage within the Taiwanese adult population. Design: The study included 59,091 participants from the Taiwan Precision Medicine Initiative dataset. We examined the relationship between m.827A>G variant carriers, age, gentamicin exposure, and sensorineural hearing loss. Pure-tone audiometry assessed hearing thresholds and severity, while genetic analysis determined the mutation frequency. Phenome-wide association studies established connections between the variant and clinical diagnoses. Results: Genotyped from 58,091 Taiwanese adults, the m.827A>G variant minor allele frequency was 4.49%. Analyzing data from 186 carriers included age, sex, and audiograms. The carriers of m.827A>G variant who had been exposed to gentamicin did not display significant hearing level distinction. PheWAS analysis was conducted and confirmed a significant association between the variant and hearing loss. Conclusions: This study confirms the association between the m.827A>G variant and hearing loss, while suggesting that its role in gentamicin-induced ototoxicity may be limited.