Identification of Novel Candidate Genes and Variants for Hearing Loss and Temporal Bone Anomalies.

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.

Colouterine fistula: A case report of a rare complication of diverticular disease managed during the pandemic.

INTRODUCTION AND IMPORTANCE: Colouterine fistulas related to diverticulitis are very rare due to the thickness of the uterine myometrium. Other causes related to colouterine fistula formation particularly malignancy, have to be considered. Diagnosis by imaging or endoscopy may be inconclusive. CASE PRESENTATION: We are presenting a case of a 70-year-old female who presented with malodorous vaginal discharge and painful labial lesions. No previous history of surgery, gynecologic malignancy or other possible causes of the fistula was elicited. CT scan imaging suggested a colouterine fistula. The patient was admitted and underwent Exploratory laparotomy, Hartmann's procedure and total hysterectomy with bilateral salpingo oophorectomy. The patient was discharged without perioperative complications. CLINICAL DISCUSSION: Colouterine fistulas are extremely rare complications of diverticular disease. Diagnosis entails clinical astuteness and judicious use of imaging and endoscopic modalities. Accurate diagnosis is essential to select the appropriate surgical approach, along with intraoperative findings patient status and prevailing conditions. CONCLUSION: This case is being presented not only for the rarity of the case but also for the complexity of the management and decision making during the period of the pandemic.