Purpose Aortic stenosis (AS) is characterized by progressive calcification of the aortic valve. While imaging can assess the extent and localization of calcification, intraoperative findings suggest substantial variability in mechanical stiffness. Quantitative biomechanical evaluation is needed to inform optimized treatment strategies. We aimed to quantify the mechanical stiffness of calcified nodules in human AS. Methods We p...

Mutations in the OTOF gene are a common cause of hereditary hearing loss and the main cause of auditory neuropathy spectrum disorder (ANSD). Although it is reported that most of the patients with OTOF mutations have stable, congenital or prelingual onset severe-to-profound hearing loss, some patients show atypical clinical phenotypes, and the genotype–phenotype correlation in patients with OTOF mutations is not yet fully under...