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BACKGROUND: Otologic manifestations are one of the most consistent findings of CHARGE syndrome found in more than 90%. Since genetic analysis of the CHD7 gene has rarely been performed in previous reports dealing with ear abnormalities, the genotypic spectrum of CHD7 mutations was analyzed in deaf patients with CHARGE syndrome, and the clinical considerations concerning auditory rehabilitation were investigated. METHODS: Nine Korean patients with CHARGE syndrome showing profound hearing loss and semicircular canal aplasia were included. All 38 exons of CHD7 were analyzed by direct sequencing. For splice site variations, in silico and exon-trapping analyses were performed to verify the pathogenicity of nucleotide variations. Clinical features and the outcome of auditory rehabilitation were also analyzed. RESULTS: Eight of 9 patients revealed alterations of the CHD7 gene including 3 frameshift, 2 nonsense, 2 splice site, and 1 missense mutations. Five of 9 patients were clinically diagnosed as atypical CHARGE syndrome but demonstrated various mutations of the CHD7 gene. One familial case showed intra-familial variability. Radiologic findings suggesting cochleovestibular nerve deficiency were identified in most of the patients. Of the 8 patients who underwent cochlear implantation, 5 patients demonstrated favorable outcome. Larger diameter of the cochleovestibular nerve on imaging and absence of severe mental retardation were factors related to better outcome after cochlear implantation rather than the type of CHD7 mutations. Auditory brainstem implantation was performed in two patients who did not benefit from cochlear implantation. CONCLUSIONS: Genetic analysis of the CHD7 gene should be performed in cases with semicircular canal aplasia even when other typical features of CHARGE syndrome are absent. For auditory rehabilitation in CHARGE syndrome, cochlear implantation should be strongly recommended in selected cases with favorable prognostic factors. Auditory brainstem implantation may be a viable option in patients with CHARGE syndrome who have failed to benefit from cochlear implantation.

Background: Considering social distancing requirements and isolation during the COVID-19 pandemic and the widespread health mis/disinformation on social media, filling the pandemic-related information gap is critical. Objectives: This study explored COVID-19-related question topics, topic correlation, evolving trends, and community interactions by leveraging data from a health question-answering (Q&A) community (public and health professionals) over a 2-year period. Methods: A total of 828 questions were collected and manually reviewed from a health Q&A and classified into 2492 codes. Question topic correlations, trends, and community interactions were generated using different statistical techniques. Results: Thirty-seven topics were identified, and strong topic correlations were observed between the cognitive layer and other layers. These topics changed as the pandemic developed. Community interaction analyses revealed topics that were popular but received comparatively fewer responses. Discussion: The findings could illuminate the dynamic changes in people's interests and concerns related to COVID-19 and their experiences of exchanging information in social Q&A communities. Conclusion: This study examined the practical significance of understanding topics of interest during a pandemic. The findings can inform the design of social health Q&A platforms that could reduce the risks of misinformation and disinformation. [ABSTRACT FROM AUTHOR]