Search

Background: Hearing loss remains an important global health problem that is potentially addressed through early identification of a genetic etiology, which helps to predict outcomes of hearing rehabilitation such as cochlear implantation and also to mitigate the long-term effects of comorbidities. The identification of variants for hearing loss and detailed descriptions of clinical phenotypes in patients from various populations are needed to improve the utility of clinical genetic screening for hearing loss. Methods: Clinical and exome data from 15 children with hearing loss were reviewed. Standard tools for annotating variants were used and rare, putatively deleterious variants were selected from the exome data. Results: In 15 children, 21 rare damaging variants in 17 genes were identified, including: 14 known hearing loss or neurodevelopmental genes, 11 of which had novel variants; and three candidate genes IST1 , CBLN3 and GDPD5 , two of which were identified in children with both hearing loss and enlarged vestibular aqueducts. Patients with variants within IST1 and MYO18B had poorer outcomes after cochlear implantation. Conclusion: Our findings highlight the importance of identifying novel variants and genes in ethnic groups that are understudied for hearing loss.

Objective: Chondroblastoma is an uncommon benign neoplasm of cartilaginous origin usually involving the long bones. The temporal bone is a rare location for this tumor. The clinical profile, optimal medical and surgical management, and outcomes of treatment for temporal bone chondroblastoma remain unknown., Methods: We performed a systematic review of the SCOPUS, PubMed, and CENTRAL databases for case reports and case series on patients with histopathologically proven temporal bone chondroblastoma. Data on demographics, clinical manifestation, surgical management, adjuvant treatment, and outcome on last follow-up were collected., Results: A total of 100 cases were reported in the literature, including one described in the current study. The mean age of patients was 42.3 years (range, 2-85 years), with a slight male predilection (1.3:1). The most common clinical manifestations were otologic symptoms (e.g., hearing loss [65%], tinnitus, and otalgia) and a palpable mass. Surgical excision was performed in all cases, with gross total excision achieved in 58%. Radiation therapy was performed in 18% of cases, mostly as adjuvant treatment after subtotal excision. There were no deaths at a median follow-up of 2 years. Among the patients with detailed status on follow-up, 58% had complete neurologic recovery, 38% had partial recovery, and 4% had progression of symptoms as a result of tumor recurrence., Conclusions: Temporal bone chondroblastoma has a distinct clinical profile from chondroblastoma of long bones. Surgery is the mainstay of treatment, and radiation therapy may be given after subtotal excision. Outcomes are generally favorable after treatment., (Copyright © 2020 Elsevier Inc. All rights reserved.)