A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort.

Purpose: The aim of the study was to determine the actual GJB2 and GJB6 mutation frequencies in North America after several years of generalized testing for autosomal recessive nonsyndromic sensorineural hearing loss to help guide diagnostic testing algorithms, especially in light of molecular diagnostic follow-up to universal newborn hearing screening.

Methods: Mutation types, frequencies, ethnic distributions, and genotype-phenotype correlations for GJB2 and GJB6 were assessed in a very large North American cohort.

Results: GJB2 variants were identified in 1796 (24.

Increased calcium supplementation is associated with morbidity and mortality in the infant postoperative cardiac patient.

Objective: The purpose of this study was to assess the association of calcium replacement therapy with morbidity and mortality in infants after cardiac surgery involving cardiopulmonary bypass.

Design: Retrospective chart review.

Setting: The cardiac intensive care unit at a tertiary care children's hospital.