Association of SLC26A4 mutations, morphology, and hearing in pendred syndrome and NSEVA.

Objective: To investigate the relations of monoallelic (M1), biallelic (M2), or the absence of mutations (M0) in SLC26A4 to inner ear morphology and hearing levels in individuals with Pendred syndrome (PS) or nonsyndromic enlarged vestibular aqueduct (NSEVA) associated with hearing loss.

Methods: In a cohort of 139 PS/NSEVA individuals, 115 persons from 95 unrelated families had full genetic sequencing of SLC26A4, and 113 had retrievable images for re-assessment of inner ear morphology. The association between the number of mutant alleles in SLC26A4, inner ear morphology (including endolymphatic sac size and protein content on magnetic resonance imaging), and hearing level (pure tone average) was explored.

Steady progress seen in endoscopic surgery on major salivary glands.

Introduction: The objective of this study was to investigate the development in sialendoscopy (SE) in East Denmark. Data were compared with previously published data to assess the learning curve.

Material And Methods: In this retrospective consecutive study, all patients who had SE performed at Hillerød Hospital from November 2009 to April 2011 were included.