Real-Time Intraoperative Consultation Reporting in the Electronic Health Record.

Objectives: We sought to make pathologists' intraoperative consultation (IOC) results immediately available to the surgical team, other clinicians, and laboratory medicine colleagues to improve communication and decrease postanalytic errors.

Methods: We created an IOC report in our stand-alone laboratory information system that could be signed out prior to, and independent of, the final report, and transfer immediately to the electronic health record (EHR) as a preliminary diagnosis. We evaluated two metrics: preliminary (IOC) result review in the EHR by clinicians and postanalytic errors.

Progressive external ophthalmoplegia and vision and hearing loss in a patient with mutations in POLG2 and OPA1.

Objective: To describe the clinical features, muscle pathological characteristics, and molecular studies of a patient with a mutation in the gene encoding the accessory subunit (p55) of polymerase gamma (POLG2) and a mutation in the OPA1 gene.

Design: Clinical examination and morphological, biochemical, and molecular analyses.

Setting: Tertiary care university hospitals and molecular genetics and scientific computing laboratory.

Mutant POLG2 disrupts DNA polymerase gamma subunits and causes progressive external ophthalmoplegia.

DNA polymerase gamma (pol gamma ) is required to maintain the genetic integrity of the 16,569-bp human mitochondrial genome (mtDNA). Mutation of the nuclear gene for the catalytic subunit of pol gamma (POLG) has been linked to a wide range of mitochondrial diseases involving mutation, deletion, and depletion of mtDNA. We describe a heterozygous dominant mutation (c.