Colorectal Cancer Outcomes in a Large Negative Computed Tomography Colonography Screening Cohort.

Introduction: At our institution, the most common cohort of individuals having computed tomography colonography (CTC) are those that require primary screening for colorectal cancer and were unable to tolerate or failed optical colonoscopy (OC). CTC is an efficient method for detecting polyps, masses, flat-lesions, and overt colorectal cancer, serving as a viable alternative to colonoscopy. This study follows patients with negative CTC results to evaluate the number of clinically significant lesions that may have been potentially missed by CTC.

Identification of a novel in-frame deletion in KCNQ4 (DFNA2A) and evidence of multiple phenocopies of unknown origin in a family with ADSNHL.

Autosomal dominant sensorineural hearing loss (ADSNHL) is extremely genetically heterogeneous, making it difficult to molecularly diagnose. We identified a multiplex (n=28 affected) family from the genetic isolate of Newfoundland, Canada with variable SNHL and used a targeted sequencing approach based on population-specific alleles in WFS1, TMPRSS3 and PCDH15; recurrent mutations in GJB2 and GJB6; and frequently mutated exons of KCNQ4, COCH and TECTA. We identified a novel, in-frame deletion (c.