Mutations causing premature termination codons discriminate and generate cellular and clinical variability in HHT.

For monogenic diseases caused by pathogenic loss-of-function DNA variants, attention focuses on dysregulated gene-specific pathways, usually considering molecular subtypes together within causal genes. To better understand phenotypic variability in hereditary hemorrhagic telangiectasia (HHT), we subcategorized pathogenic DNA variants in ENG/endoglin, ACVRL1/ALK1, and SMAD4 if they generated premature termination codons (PTCs) subject to nonsense-mediated decay. In 3 patient cohorts, a PTC-based classification system explained some previously puzzling hemorrhage variability.

Outcome of endoscopic sphenopalatine artery occlusion for intractable epistaxis: a 10-year experience.

Objective/hypothesis: To evaluate the efficacy of surgical sphenopalatine artery occlusion (SAO) for treating intractable epistaxis, and identify factors associated with long-term success or failure of this procedure.

Methods: A retrospective chart review of patients undergoing SAO surgery between January 1995 and 2005 was undertaken. Clinical and hematologic information, preoperative and surgical care, short-term complications, and long-term outcome were recorded.

Functional endoscopic sinus surgery: 5 year follow up and results of a prospective, randomised, stratified, double-blind, placebo controlled study of postoperative fluticasone propionate aqueous nasal spray.

One hundred nine patients with chronic rhinosinusitis underwent functional endoscopic sinus surgery. Seventy seven patients had polyposis. The population was studied prospectively for 5 years postoperatively.