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BackgroundCOVID-19 often causes respiratory symptoms, making otolaryngology offices one of the most susceptible places for community transmission of the virus. Thus, telemedicine may benefit both patients and physicians. ObjectiveThis study aims to explore the feasibility of telemedicine for the diagnosis of all otologic disease types. MethodsA total of 177 patients were prospectively enrolled, and the patient’s clinical manifestations with otoendoscopic images were written in the electrical medical records. Asynchronous diagnoses were made for each patient to assess Top-1 and Top-2 accuracy, and we selected 20 cases to conduct a survey among four different otolaryngologists to assess the accuracy, interrater agreement, and diagnostic speed. We also constructed an experimental automated diagnosis system and assessed Top-1 accuracy and diagnostic speed. ResultsAsynchronous diagnosis showed Top-1 and Top-2 accuracies of 77.40% and 86.44%, respectively. In the selected 20 cases, the Top-2 accuracy of the four otolaryngologists was on average 91.25% (SD 7.50%), with an almost perfect agreement between them (Cohen kappa=0.91). The automated diagnostic model system showed 69.50% Top-1 accuracy. Otolaryngologists could diagnose an average of 1.55 (SD 0.48) patients per minute, while the machine learning model was capable of diagnosing on average 667.90 (SD 8.3) patients per minute. ConclusionsAsynchronous telemedicine in otology is feasible owing to the reasonable Top-2 accuracy when assessed by experienced otolaryngologists. Moreover, enhanced diagnostic speed while sustaining the accuracy shows the possibility of optimizing medical resources to provide expertise in areas short of physicians.

Background: Alport syndrome (AS) is a genetic disorder characterized by progressive renal disease, ocular abnormalities, and sensorineural hearing loss. However, the audiological profile of patients with AS remains elusive. Thus, this study aims to evaluate the natural history of auditory function in patients with AS. Methods: Exome or targeted sequencing for deafness genes was performed to confirm the pathogenic variants in patients with AS. Results: We identified fifteen individuals with AS who carried pathogenic variants of COL4A3, COL4A4, or COL4A5. Among fifteen, twelve (80%) showed hematuria, and six (40%) showed proteinuria. The patients exhibited bilateral sensorineural hearing loss, which was progressive and symmetric. The hearing thresholds increased according to age and plateaued at the level of 53 dB HL, indicating the hearing loss did not reach the severe-to-moderate level. The auditory dysfunction showed a distinct natural history depending on the inheritance pattern, but there was no remarkable difference between males and females among X-linked AS. Conclusions: Auditory dysfunction in AS is progressive up to the level of moderate hearing loss. Precise auditory rehabilitation for patients with AS is warranted depending on the inheritance pattern and genetic predisposition. [ABSTRACT FROM AUTHOR]

Background: Mutations in Wolfram syndrome 1 (WFS1) cause Wolfram syndrome and autosomal dominant non-syndromic hearing loss DFNA6/14/38. To date, more than 300 pathogenic variants of WFS1 have been identified. Generally, the audiological phenotype of Wolfram syndrome or DFNA6/14/38 is characterized by low-frequency hearing loss; however, this phenotype is largely variable. Hence, there is a need to better understand the diversity in audiological and vestibular profiles associated with WFS1 variants, as this can have significant implications for diagnosis and management. This study aims to investigate the clinical characteristics, audiological phenotypes, and vestibular function in patients with DFNA6/14/38. Methods: Whole-exome or targeted deafness gene panel sequencing was performed to confirm the pathogenic variants in patients with genetic hearing loss. Results: We identified nine independent families with affected individuals who carried a heterozygous pathogenic variant of WFS1. The onset of hearing loss varied from the first to the fifth decade. On a pure-tone audiogram, hearing loss was symmetrical, and the severity ranged from mild to severe. Notably, either both low-frequency and high-frequency or all-frequency-specific hearing loss was observed. However, hearing loss was non-progressive in all types. In addition, vestibular impairment was identified in patients with DFNA6/14/38, indicating that impaired WFS1 may also affect the vestibular organs. Conclusions: Diverse audiological and vestibular profiles were observed in patients with pathogenic variants of WFS1. These findings highlight the importance of comprehensive audiological and vestibular assessments in patients with WFS1 mutations for accurate diagnosis and management. [ABSTRACT FROM AUTHOR]

The endolymphatic sac (ES) is a cystic organ that is a part of the inner ear and is connected to the cochlea and vestibule. The ES is thought to be involved in inner ear ion homeostasis and fluid volume regulation for the maintenance of hearing and balance function. Many ion channels, transporters, and exchangers have been identified in the ES luminal epithelium, mainly in animal studies, but there has been no functional study investigating ion transport using human ES tissue. We designed the first functional experiments on electrogenic transport in human ES and investigated the contribution of K(+) channels in the electrogenic transport, which has been rarely identified, even in animal studies, using electrophysiological/pharmacological and molecular biological methods. As a result, we identified functional and molecular evidence for the essential participation of K(+) channels in the electrogenic transport of human ES epithelium. The identified K(+) channels involved in the electrogenic transport were KCNN2, KCNJ14, KCNK2, and KCNK6, and the K(+) transports via those channels are thought to play an important role in the maintenance of the unique ionic milieu of the inner ear fluid.