Gene therapy restores auditory and vestibular function in a mouse model of Usher syndrome type 1c.

Because there are currently no biological treatments for hearing loss, we sought to advance gene therapy approaches to treat genetic deafness. We focused on Usher syndrome, a devastating genetic disorder that causes blindness, balance disorders and profound deafness, and studied a knock-in mouse model, Ush1c c.216G>A, for Usher syndrome type IC (USH1C).

Surgical techniques and outcomes of cochlear implantation in patients with radiographic findings consistent with X-linked deafness.

Objectives: X-linked deafness is a potential etiology of sensorineural hearing loss characterized by bulbous dilatation of the fundus of the internal auditory canal (IAC) and the absence of the bony plates separating the basal turn of the cochlea and IAC. These malformations predispose patients to IAC insertion during cochlear implantation (CI). Our objective is to describe the surgical technique, audiometric and speech performance outcomes in a group of patients with this unique cochlear malformation.

Reduced Cochlear Implant Performance After the Use of Growth Hormone With Regain of Function After Cessation of Growth Hormone Therapy.

Objective: To assess whether recombinant growth factor (hGH) therapy has an effect on cochlear implant (CI) performance.

Patients: Two pediatric CI recipients (S1, S2) who underwent treatment with hGH for short stature were identified for review. S1 has bilateral labyrinthine dysplasia and received implants at ages 10 months (right) and 4 years 3 months (left).

Clival fibrous dysplasia: Case series and review of the literature.

Slightly more than 30 cases of fibrous dysplasia involving the clivus have been reported in the international literature, primarily in the neurosurgery and radiology literature. In this article we present a series of 4 cases involving patients with clival fibrous dysplasia. In a retrospective chart review, 4 patients presenting to tertiary care centers from January 1, 2006, to January 31, 2008, were identified and their presenting symptoms and radiologic findings reviewed.

Otologic outcomes after blast injury: the Boston Marathon experience.

Objective: Otologic trauma was the most common physical injury sustained after the April 15, 2013, Boston Marathon bombings. The goal of this study is to describe the resultant otologic morbidity and to report on early outcomes.

Study Design: Multi-institutional prospective cohort study.

Paraganglioma presenting as cholesterol granuloma of the petrous apex.

We report the unique finding of a petrous apex cholesterol granuloma associated with a paraganglioma, also known as a glomus jugulare tumor, in a 52-year-old woman who presented to our department with pulsatile tinnitus, hearing loss, aural fullness, and disequilibrium. She had been treated for a petrous apex cholesterol granuloma 20 years earlier, at which time she had undergone drainage of the granuloma via subtotal petrous apicectomy. When she came to our facility approximately 20 years later, she had signs and symptoms consistent with a jugular paraganglioma, which was likely to have been present at the time of her initial presentation for the cholesterol granuloma.

The effects of residual hearing in traditional cochlear implant candidates after implantation with a conventional electrode.

Objective: To analyze the effects of residual hearing on postoperative speech performance in traditional cochlear implant (CI) patients implanted with a conventional electrode.

Study Design: Retrospective review.

Setting: Academic tertiary referral center.

Management of surgical complications and failures in acoustic neuroma surgery.

Acoustic neuromas (ANs) are the most common tumors of the cerebellopontine angle. Although numerous advances have occurred in the operative management of AN and perioperative care leading to a significant decrease in associated morbidity and mortality, there are several characteristic complications that accompany microsurgical resection of AN. Understanding the types and rates of complications in association with the various approaches is essential in patient counseling, establishing patient expectations, and ensuring the best patient outcome.

Revision cochlear implantation following internal auditory canal insertion.

Objectives/hypothesis: In pediatric patients with congenital malformations of the inner ear, anomalies within the anatomy may facilitate unintentional insertion of the cochlear implant electrode into the internal auditory canal. Revision procedures for removal and replacement of cochlear implant electrodes following internal auditory canal insertion are fraught with potential danger, including the theoretical risk of injury to vasculature within the internal auditory canal, repeat insertion within the internal auditory canal, and cerebrospinal fluid leak. The objective of this presentation is to describe a technique for revision cochlear implantation following internal auditory canal insertion to minimize the potential associated risks.

Pediatric cochlear implantation: candidacy evaluation, medical and surgical considerations, and expanding criteria.

Since the first cochlear implant approved by the US Food and Drug Administration in the early 1980s, great advances have occurred in cochlear implant technology. With these advances, patient selection, preoperative evaluation, and rehabilitation consideration continue to evolve. This article describes the current practice in pediatric candidacy evaluation, reviews the medical and surgical considerations in pediatric cochlear implantation, and explores the expanding criteria for cochlear implantation within the pediatric population.

Sudden sensorineural hearing loss: a review of diagnosis, treatment, and prognosis.

Sudden sensorineural hearing loss (SSNHL) is commonly encountered in audiologic and otolaryngologic practice. SSNHL is most commonly defined as sensorineural hearing loss of 30 dB or greater over at least three contiguous audiometric frequencies occurring within a 72-hr period. Although the differential for SSNHL is vast, for the majority of patients an etiologic factor is not identified.

Asymmetric sudden sensorineural hearing loss: is all this testing necessary?

Objective: A number of factors have been identified that contribute to the presentation of asymmetric sudden sensorineural hearing loss (ASSNHL). Routinely, patients presenting with ASSNHL undergo a battery of serologic testing and imaging in an attempt to determine a cause. The objective of this study was to assess the utility of this diagnostic evaluation in elucidating a cause of an ASSNHL and to assess the average cost associated with this battery of testing.

Severe nasal frostbite injury from nasal cannula supplemental oxygen malfunction.

We describe the presentation and management of a patient who presented to our institution with severe nasal frostbite from nasal cannula supplemental oxygen malfunction. This rare complication has not previously been reported in the English Literature. We describe the physical properties of compressed oxygen release that may contribute to these malfunctions and the role of the otolaryngologist in the management of the resulting injuries.

A combination antioxidant therapy prevents age-related hearing loss in C57BL/6 mice.

Objective: Age-related hearing loss (ARHL) is characterized by gradual, progressive sensorineural hearing loss, which impairs communication, lending to clinical depression and social withdrawal. There are currently no effective treatments for ARHL. The purpose of this study is to evaluate the potential of a combination antioxidant therapy in preventing ARHL.

Conscious sedation in pediatric speech endoscopy.

Objective: Speech nasoendoscopy is one of the gold standards for evaluating velopharyngeal insufficiency. The vast majority of pediatric patients are able to tolerate this procedure within the clinic under local anesthetic. However, a select group of pediatric patients is unable to cooperate with the examination.

Massive lymphatic malformations of the head, neck, and chest.

Objective: To provide clinicians with an overview of the complications and functional and clinical outcomes of children affected by massive lymphatic malformations affecting multiple sites in the head, neck, and/or chest.

Methods: We reviewed the medical records of all patients who received treatment for massive cervicofacial lymphatic malformations at our tertiary care pediatric institution during a 17-year period. Massive lesions were defined as (1) unilateral lesions that infiltrated at least 50% of two anatomic regions, including the head, neck, or chest; (2) unilateral lesions in which there was involvement of the midline structures of the head or neck; or (3) bilateral lesions in which 50% of each side was affected.

Incidental finding of dysgeusia relieved by injections of botulinum toxin A.

Objective: We report the unique finding of hemifacial spasm and associated dysgeusia that resolved after treatment with botulinum toxin A (BTX-A).

Study Design: Case report.

Methods: Three years after undergoing resection of an acoustic neuroma and subsequent resolution of postoperative left-sided facial nerve palsy, a 38-year-old woman presented with new onset of facial spasm and dysgeusia.

Mutational analysis of the mitochondrial 12S rRNA gene in Chinese pediatric subjects with aminoglycoside-induced and non-syndromic hearing loss.

Mutations in mitochondrial DNA (mtDNA) have been found to be associated with sensorineural hearing loss. We report here a systematic mutational screening of the mitochondrial 12S rRNA gene in 128 Chinese pediatric subjects with sporadic aminoglycoside-induced and non-syndromic hearing loss. We show that aminoglycoside ototoxicity accounts for 48% of cases of hearing loss in this Chinese pediatric population.

Maternally inherited nonsyndromic hearing loss is associated with the T7511C mutation in the mitochondrial tRNASerUCN gene in a Japanese family.

We report here the characterization of a Japanese family with maternally transmitted nonsyndromic hearing loss. Fourteen of 21 matrilineal relatives in this family exhibited early or late-onset/progressive but noncongenital hearing impairment with a wide range of severity, ranging from severe to normal hearing. The age-of-onset varies from 3 to 30 years.