Congenital stapes malformation: Rare conductive hearing loss in a patient with Waardenburg syndrome.

Waardenburg syndrome is a known autosomal dominant cause of congenital hearing loss. It is characterized by a distinctive phenotypic appearance and often involves sensorineural hearing loss. Temporal bone abnormalities and inner ear dysmorphisms have been described in association with the disease. However, middle ear abnormalities as causes of conductive hearing loss are not typically seen in Waardenburg syndrome. We discuss a case of an 8-year-old female who meets diagnostic criteria for Waardenburg syndrome type 3 and who presented with a bilateral conductive hearing loss associated with congenital stapes fixation. We discuss management strategy in this previously unreported phenotype.

The Tinnitus Retraining Therapy Trial (TRTT): study protocol for a randomized controlled trial.

BACKGROUND: Subjective tinnitus is the perception of sound in the absence of a corresponding external sound for which there is no known medical etiology. For a minority of individuals with tinnitus, the condition impacts their ability to lead a normal lifestyle and is severely debilitating. There is no known cure for tinnitus, so current therapy focuses on reducing the effect of tinnitus on the patient's quality of life. Tinnitus retraining therapy (TRT) uses nonpsychiatric tinnitus-specific educational counseling and sound therapy in a habituation-based protocol to reduce the patient's tinnitus-evoked negative reaction to, and awareness of, the tinnitus, with the ultimate goal of reducing the tinnitus impact on the patient's quality of life. Some studies support the efficacy of TRT, but no trial to date has compared TRT with the current standard of care or evaluated the separate contributions of TRT counseling and sound therapy. The Tinnitus Retraining Therapy Trial (TRTT) is a randomized, double-blind, placebo-controlled, multicenter trial for individuals with intolerable tinnitus. METHODS/DESIGN: The TRTT is enrolling active-duty and retired military personnel and their dependents with functionally adequate hearing sensitivity and severe tinnitus at US Air Force, Navy, and Army medical centers. Eligible study participants are randomized to TRT, partial TRT, or standard care to determine the efficacy of TRT and its components (TRT counseling and sound therapy). The primary outcome is change in score on the Tinnitus Questionnaire assessed longitudinally between baseline and follow-up (3, 6, 12, and 18 months following treatment). Secondary outcomes include subscale score changes in the Tinnitus Questionnaire, overall and subscale score changes in the Tinnitus Functional Index and Tinnitus Handicap Inventory, and change in the visual analog scale of the TRT Interview Form. Audiological outcomes include tinnitus pitch and loudness match and measures of loudness discomfort levels. The incidence of depression as a safety measure is assessed at each visit using the Beck Depression Inventory Fast Screen. TRIAL REGISTRATION: Clinicaltrials.gov NCT01177137.

Stereotactic radiation treatment of vestibular schwannoma: indications, limitations, and outcomes.

PURPOSE OF REVIEW: Stereotactic radiation treatment is an increasingly performed procedure for patients with vestibular schwannoma and other benign skull base tumors. During the past 30 years, advancements in stereotactic imaging, radiation delivery techniques, and dose planning have improved overall patient outcomes. The specific role of radiation in current management strategies for vestibular schwannoma continues to evolve as long-term outcome data are analyzed and standardized studies are performed. The recent literature regarding the indications, limitations, and outcomes for stereotactic radiation treatment is reviewed. RECENT FINDINGS: Systematic reviews of the Gamma Knife literature demonstrate improved overall outcomes with radiation doses below 13 Gy. Observation of small vestibular schwannomas is recommended over early radiation or microsurgical intervention. Radiation may be used as adjunctive therapy for large tumors and in certain postradiation treatment failures. Stereotactic radiosurgery and fractionated radiotherapy are equally effective treatment modalities. SUMMARY: Long-term outcome data will ultimately define future indications and limitations for the use of stereotactic radiation with benign skull base lesions. Current evidence supports its use for small to medium sized primary and recurrent vestibular schwannomas with optimal dosing below 13 Gy. It is also recommended for adjunctive therapy, recurrent tumors, in poor surgical candidates, and for those who do not desire observation or surgery.