MLC is a feasible and safe approach that provides similar times to SLC with better cosmesis, a less painful recovery, and possibly an earlier return to normal activity.
Highlights
Primary Thyroid Lymphomas are rare tumors that must be suspected in progressively enlarging thyroid masses in the background of Hashimoto’s thyroidits.
Tissue diagnosis combined with appropriate radiologic imaging may lead to an accurate diagnosis.
Preoperative diagnosis is ideal to avoid unnecessary surgery due to the availability of effective multimodal treatment with chemoradiotherapy.
Surgery may be appropriate and effective in a select group of patients but must be combined with adjuvant chemoradiotherapy to achieve favorable outcomes.
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.
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