Single Administration of AAV-mAtp6v1b2 Gene Therapy Rescues Hearing and Vestibular Disorders Caused by Atp6v1b2-Induced Lysosomal Dysfunction in Hair Cells.

Haploinsufficiency of the ATP6V1B2, a subunit of V-ATPases, underlies genetic disorders including Dominant deafness-onychodystrophy (DDOD), deafness, onychodystrophy, osteodystrophy, mental retardation and seizures (DOORS), and Zimmermann-Laband syndromes, all characterized by congenital hearing loss and onychodystrophy. Effective therapies for ATP6V1B2-associated hearing loss remain elusive. The study generates a hair cell-specific knockout mouse (Atp6v1b2;Atoh1) recapitulating the human phenotypes, with pathological features including hair cell loss and abnormal lysosomal morphology and function.

The impact of preoperative calcitonin screening on the prognosis of patients with medullary thyroid cancer: a retrospective multicenter cohort study.

Purpose: There is still controversy in different guidelines regarding the necessity of routine preoperative calcitonin (Ctn) testing in medullary thyroid cancer (MTC). The level of preoperative Ctn may influence the extent of surgery.

Methods: This retrospective multicenter cohort study involved 149 MTC patients from 6 centers between 2013 to 2023.