Comprehensive Genetic Analysis of Japanese Autosomal Dominant Sensorineural Hearing Loss Patients

by Yoh-ichiro Iwasa, Shin-ya Nishio, Shin-ichi Usami

Background

In general, autosomal dominant inherited hearing loss does not have a founder mutation, with the causative mutation different in each family. For this reason, there has been a strong need for efficient diagnosis methods for autosomal dominant sensorineural hearing loss (ADSNHL) patients. This study sought to verify the effectiveness of our analysis algorithm for the screening of ADSNHL patients as well as the usefulness of the massively parallel DNA sequencing (MPS).

Subjects and Methods

Seventy-five Japanese ADSNHL patients from 53 ENT departments nationwide participated in this study. We conducted genetic analysis of 75 ADSNHL patients using the Invader assay, TaqMan genotyping assay and MPS-based genetic screening.

Results

A total of 46 (61.3%) ADSNHL patients were found to have at least one candidate gene variant.

Conclusion

We were able to achieve a high mutation detection rate through the combination of the Invader assay, TaqMan genotyping assay and MPS. MPS could be used to successfully identify mutations in rare deafness genes.

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Tip Fold-over in Cochlear Implantation: Case Series.

Objective: To describe the incidence, clinical presentation, and performance of cochlear implant (CI) recipients with tip fold-over. Study Design: Retrospective case series. Setting: Tertiary referral center. Patients: CI recipients who underwent postoperative computed tomography (CT) scanning. Intervention(s): Tip fold-over was identified tomographically using previously validated software that identifies the electrode array. Electrophysiologic testing including spread of excitation or electric field imaging (EFI) was measured on those with fold-over. Main Outcome Measure(s): Location of the fold-over; audiological performance pre and postselective deactivation of fold-over electrodes. Results: Three hundred three ears of 235 CI recipients had postoperative CTs available for review. Six (1.98%) had tip fold-over with 5/6 right-sided ears. Tip fold-over occurred predominantly at 270 degrees and was associated with precurved electrodes (5/6). Patients did not report audiological complaints during initial activation. In one patient, the electrode array remained within the scala tympani with preserved residual hearing despite the fold-over. Spread of excitation supported tip fold-over, but the predictive value was not clear. EFI predicted location of the fold-over with clear predictive value in one patient. At an average follow-up of 11 months, three subjects underwent deactivation of the overlapping electrodes with two of them showing marked audiological improvement. Conclusion: In a large academic center with experienced surgeons, tip fold-over occurred at a rate of 1.98% but was not immediately identifiable clinically. CT imaging definitively showed tip fold-over. Deactivating involved electrodes may improve performance possibly avoiding revision surgery. EFI may be highly predictive of tip fold-over and can be run intraoperatively, potentially obviating the need for intraop fluoroscopy. Copyright (C) 2016 by Otology & Neurotology, Inc. Image copyright (C) 2010 Wolters Kluwer Health/Anatomical Chart Company

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Letter to the Editor-Response Regarding Combined Transmastoid and Middle Fossa Approach.

No abstract available

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Sudden Hearing Loss Due to Anterior Inferior Cerebellar Artery Infarction.

No abstract available

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Oculographic, Clinical Test of Sensory Integration and Balance and Computerized Dynamic Posturography Findings in Patients With Psoriatic Arthritis.

Objective: To assess the frequency and characteristics of the oculographic findings and the usefulness of the clinical test of sensory integration and balance (CTSIB) for the evaluation of balance in patients with psoriatic arthritis (PsA) by comparing this test with the computerized dynamic posturography (CDP). Study Design: A series of consecutive patients that fulfilled the Moll and Wright criteria for PsA and matched controls were studied. Setting: The study was performed at the Otolaryngology Division of a tertiary reference center. Intervention: Vestibular evaluation including CTSIB followed by CDP was performed to all patients and age, sex, and ethnically frequency-matched controls. Main Outcome Measure: Patterns of CTSIB and CDP (gold standard) were assessed and compared. Patients: Sixty PsA patients (63.3% women) and 60 matched controls. Results: PsA patients had higher frequency of abnormal oculocephalic response (13.3%) and abnormal caloric test (26.7%) than controls (0% in both cases) (p = 0.006 and p

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Intracranial Complications From Temporal Bone Cystic Angiomatosis.

No abstract available

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What can Long-Term Attendance at Programming Appointments Tell us About Pediatric Cochlear Implant Recipients?.

Objective: This study sought to understand factors linked to long-term engagement with available post-implant "mapping" review services for individuals who received cochlear implants (CI)(s) as children. Study Design: Demographics, communication outcomes, and appointment attendance records from an unselected group of 400 participants who received CI(s) between 1985 and 2009 were analyzed. Results: After 5 years post-implant, 85.75% (n = 343) of participants attended the clinic for "mapping" appointments between March 2011 and March 2014, but 14.25% (n = 57) had not attended "mapping" for more than 3 years before March 2014. Findings showed that participants who did attend routine follow-up "mapping" appointments received their first implants at a significantly younger age (mean, 3.73 yr; standard deviation [SD], 3.39) and demonstrated better receptive language performance (mean standard score, 72; SD, 21.2) and better speech perception scores (mean open-set words, 54.1%; SD, 24.4; phonemes, 77.5%; SD, 15.8) suggesting they derived greater benefit from the technology than participants who did not attend (mean age at implant, 6.38 yr; SD, 4.85; mean receptive language standard score, 58.6; SD, 25.6; mean open-set-words, 34.5%; SD, 24.5; phonemes, 62.7.4%; SD, 23.4). Conclusions: The present study identified a profile of pediatric CI recipients who continue to attend follow-up review appointments after 5 years of device experience. Individuals who were non-attenders tended to include part-time and non-users of the technology. This could be due to a range of factors including the use of past speech processor technology (at first 12 months after switch-on), less overall benefit, and the presence of additional special needs. Copyright (C) 2016 by Otology & Neurotology, Inc. Image copyright (C) 2010 Wolters Kluwer Health/Anatomical Chart Company

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