Variants affecting diverse domains of MEPE are associated with two distinct bone disorders, a craniofacial bone defect and otosclerosis.

Purpose: To characterize new molecular factors implicated in a hereditary congenital facial paresis (HCFP) family and otosclerosis.

Methods: We performed exome sequencing in a four-generation family presenting nonprogressive HCFP and mixed hearing loss (HL). MEPE was analyzed using either Sanger sequencing or molecular inversion probes combined with massive parallel sequencing in 89 otosclerosis families, 1604 unrelated affected subjects, and 1538 unscreened controls.

A combination of two truncating mutations in USH2A causes more severe and progressive hearing impairment in Usher syndrome type IIa.

Objectives: Usher syndrome is an inherited disorder that is characterized by hearing impairment (HI), retinitis pigmentosa, and in some cases vestibular dysfunction. Usher syndrome type IIa is caused by mutations in USH2A. HI in these patients is highly heterogeneous and the present study evaluates the effects of different types of USH2A mutations on the audiometric phenotype.

Active Middle Ear Implantation: Long-term Medical and Technical Follow-up, Implant Survival, and Complications.

Objective: To evaluate the long-term medical and technical results, implant survival, and complications of the semi-implantable vibrant soundbridge (VSB), otologics middle ear transducer (MET), and the otologics fully implantable ossicular stimulator (FIMOS).

Study Design: Retrospective cohort study.

Patients: Patients with chronic external otitis and either moderate to severe sensorineural or conductive/mixed hearing loss.

Visual Prognosis in USH2A-Associated Retinitis Pigmentosa Is Worse for Patients with Usher Syndrome Type IIa Than for Those with Nonsyndromic Retinitis Pigmentosa.

Purpose: USH2A mutations are an important cause of retinitis pigmentosa (RP) with or without congenital sensorineural hearing impairment. We studied genotype-phenotype correlations and compared visual prognosis in Usher syndrome type IIa and nonsyndromic RP.

Design: Clinic-based, longitudinal, multicenter study.

The Bony Obliteration Tympanoplasty in Pediatric Cholesteatoma: Long-term Safety and Hygienic Results.

Objective: To present the safety and hygienic results of a 5-year longitudinal study in a pediatric population undergoing surgery for extensive cholesteatoma using a canal wall up approach with bony obliteration of the mastoid and epitympanic space.

Study Design: Retrospective consecutive study.

Patients: Thirty-three children (≤18 yr) undergoing surgery for cholesteatoma (34 ears) between 1997 and 2009.

Bone-anchored hearing implants in single-sided deafness patients: Long-term use and satisfaction by gender.

Objectives/hypothesis: To examine the long-term satisfaction and possible effects of gender in patients with single-sided deafness (SSD) who underwent bone-anchored hearing implant (BAHI) surgery.

Study Design: Retrospective case-control study.

Methods: All (n = 145) consecutive SSD patients fitted with a BAHI between January 2001 and October 2011 were asked to complete a questionnaire consisting of the Abbreviated Profile of Hearing Aid Benefit (APHAB), the Communication Profile for the Hearing Impaired (CPHI), and the SSD questionnaire.

Long-term Compliance and Satisfaction With Percutaneous Bone Conduction Devices in Patients With Congenital Unilateral Conductive Hearing Loss.

Objective: Patients with congenital unilateral conductive hearing loss (UCHL) can either be watchful monitored or treated surgically through the fitting of a percutaneous bone conduction device (BCD) or, in some cases, atresia repair. The current study evaluated the long-term compliance and satisfaction with a percutaneous BCD in this specific population.

Study Design: Fifty-three consecutive patients with congenital UCHL treated with a percutaneous BCD in our tertiary referral center between 1998 and 2011 were identified.

Amplification options in unilateral aural atresia: an active middle ear implant or a bone conduction device?

Background: There is no consensus on treatment of patients with congenital unilateral aural atresia. Currently, 3 intervention options are available, namely, surgical reconstruction, application of a bone-conduction device (BCD), or application of a middle ear implant.

Objective: The present study aims to compare the BCD with the application of a middle ear implant.

Active middle ear implantation for patients with sensorineural hearing loss and external otitis: long-term outcome in patient satisfaction.

Objective: To study long-term subjective benefit of patients with sensorineural hearing loss and chronic external otitis who use active middle ear implants.

Design: Single-subject repeated measures in a preintervention and postintervention design with multiple postintervention measurements (questionnaires).

Setting: Tertiary academic center.

Familial aggregation of pure tone hearing thresholds in an aging European population.

Objective: To investigate the familial correlations and intraclass correlation of age-related hearing impairment (ARHI) in specific frequencies. In addition, heritability estimates were calculated.

Study Design: Multicenter survey in 8 European centers.

Bilateral bone conduction devices: improved hearing ability in children with bilateral conductive hearing loss.

Objectives: The aim of the study was to investigate whether children with bilateral conductive hearing loss benefit from their second device (i.e., the bilateral bone conduction device [BCD]).

Comparison between a new implantable transcutaneous bone conductor and percutaneous bone-conduction hearing implant.

Objectives: Despite good results on osseointegration and limited skin reactions with percutaneous bone conductors, there remains room for improvement. Especially in children, adverse events with percutaneous bone conductors might occur more frequently. Transcutaneous bone conductors, if powerful enough, can provide a solution that minimizes adverse events and implant loss.

Temporal bone imaging in osteogenesis imperfecta patients with hearing loss.

Objectives/hypothesis: Osteogenesis imperfecta (OI) is an autosomal-dominant connective-tissue disorder, predominantly characterized by bone fragility. Conductive hearing loss develops in half of the OI patients and often progresses to mixed loss. Findings of computed tomography (CT) and magnetic resonance (MR) imaging of the temporal bone in the largest series of OI patients to date are presented and correlated with the audiograms.

Analysis of factors predicting the success of the bone conduction device headband trial in patients with single-sided deafness.

Objective: To determine factors predicting whether patients with single-sided deafness (SSD) opt for a bone conduction device (BCD) for the contralateral routing of sound (CROS) after a regular trial with a BCD on a headband.

Design: Retrospective case-control study.

Setting: Nijmegen, the Netherlands.

Bone-anchored hearing implant loading at 3 weeks: stability and tolerability after 6 months.

Objective: To clinically evaluate the performance of a titanium percutaneous bone-anchored hearing implant (BAHI) using a 3-week healing period. Short-term implant survival, stability changes, and skin reactions are evaluated from the initial implantation to 6 months postimplantation.

Methods: Thirty patients eligible for a BAHI were included in an open, prospective clinical investigation.

Radiation therapy for vestibular schwannomas.

Purpose Of Review: Recently, new information on the natural course and on the results of radiation therapy of vestibular schwannomas has been published. The aim of this study is to summarize the most recent literature on the contemporary insights on the natural course and the results of the latest strategies of radiotherapy for vestibular schwannomas.

Recent Findings: After diagnosis only about one-third of all vestibular schwannomas will progress.

Benefit of Baha in the elderly with single-sided deafness.

The objective of this study is to determine the benefits of bone-anchored hearing aid (Baha) contralateral routing of signal (CROS) in the older adult population with single-sided deafness. Five questionnaires [general usage questionnaire, Glasgow benefit inventory (GBI), Abbreviated profile of hearing aid benefit (APHAB), Nijmegen cochlear implant questionnaire and the hearing handicap inventory for the elderly-screening version (HHIE-S)] were used to evaluate Baha use. Consecutive patients over 60 years of age with SSD fitted with a Baha CROS between April 1990 and April 2007 not using a conventional hearing aid in the better-hearing ear were identified.

Titanium fixtures for bone-conduction devices and the influence of type 2 diabetes mellitus.

Objective: The aim of this study is to evaluate whether diabetes mellitus (DM) is a risk factor for titanium fixture loss in bone-conduction devices (BCDs) because of osseointegration failure.

Study Design: Retrospective case study.

Setting: Tertiary referral center.

Congenital ossicular chain anomalies associated with a mobile stapes footplate: surgical results for 23 ears.

Objectives: We describe the audiometric results following surgery in a consecutive series of patients with a congenital ossicular middle ear disorder that was associated with a mobile stapes footplate.

Methods: We performed a retrospective analysis of patient charts from a tertiary referral center. A total of 23 patients (23 ears) underwent exploratory tympanotomy and ossicular reconstruction between 1986 and 2001.

Clinical follow-up and histopathology of the temporal bones in Nathalie syndrome.

The Nathalie syndrome (OMIM 255990) comprises a combination of features that do not resemble any other known syndrome and is as such an independent, rare entity. It is characterized by sensorineural hearing impairment, juvenile cataract, spinal muscular atrophy, skeletal abnormalities, retardation of growth, underdeveloped secondary gender characteristics and cardiomyopathy. Worldwide, only one family with this syndrome is known.

Stapes surgery in osteogenesis imperfecta: retrospective analysis of 34 operated ears.

Intraoperative findings of stapes surgery in 34 ears from 22 patients with genetically confirmed osteogenesis imperfecta (OI) are reported, as well as the audiometric results after the longest postoperative follow-up published to date. Twenty-nine out of 34 ears underwent primary stapes surgery and 5 ears revision surgery. Postoperative audiometric follow-up ranged from 6 months to 37 years.

Application of active middle ear implants in patients with severe mixed hearing loss.

Objective: To determine the long-term benefit of the Vibrant Soundbridge (VSB) middle ear implant in patients with severe mixed hearing loss and to compare it with other hearing devices.

Design: A retrospective analysis.

Setting: University-affiliated medical center.