Genotyping with a 198 mutation arrayed primer extension array for hereditary hearing loss: assessment of its diagnostic value for medical practice.

Molecular diagnostic testing of individuals with congenital sensorineural hearing loss typically begins with DNA sequencing of the GJB2 gene. If the cause of the hearing loss is not identified in GJB2, additional testing can be ordered. However, the step-wise analysis of several genes often results in a protracted diagnostic process.

Catecholamine-secreting paragangliomas: recent progress in diagnosis and perioperative management.

Catecholamine-secreting paragangliomas (CSPs) present challenges for the managing team of surgeons and anesthesiologists. Without proper preoperative management and planning, the patient is at high risk for complications and significant morbidity. A review of the literature looking at all aspects of the care of patients with CSP was performed to provide a consensus on the comprehensive care of these difficult patients.

Atresia repair before microtia reconstruction: comparison of early with standard surgical timing.

Objective: To compare short-term results of atresia repair when performed before versus after microtia reconstruction.

Study Design: Retrospective case review.

Setting: Tertiary otologic referral center.

Genetic analysis of presbycusis by arrayed primer extension.

Using the Hereditary Hearing Loss arrayed primer extension (APEX) array, which contains 198 mutations across 8 hearing loss-associated genes (GJB2, GJB6, GJB3, GJA1, SLC26A4, SLC26A5, 12S-rRNA, and tRNA Ser), we compared the frequency of sequence variants in 94 individuals with early presbycusis to 50 unaffected controls and aimed to identify possible genetic contributors. This cross-sectional study was performed at Stanford University with presbycusis samples from the California Ear Institute. The patients were between ages 20 and 65 yr, with adult-onset sensorineural hearing loss of unknown etiology, and carried a clinical diagnosis of early presbycusis.

Effect of intracapsular tonsillectomy on quality of life for children with obstructive sleep-disordered breathing.

Objective: To assess the change in disease-specific quality of life (QOL) in pediatric patients with obstructive sleep-disordered breathing (OSDB) secondary to adenotonsillar hypertrophy after powered intracapsular tonsillectomy and adenoidectomy.

Design: Prospective outcomes study.

Setting: Hospital-based pediatric otolaryngology practice.