Background/Objectives: A heterozygous mutation in the WFS1 gene is responsible for autosomal dominant non-syndromic hearing loss (DFNA6/14/38) and Wolfram-like syndrome, which is characterized by bilateral sensorineural hearing loss with optic atrophy and/or diabetes mellitus. However, detailed clinical features for the patients with the heterozygous p.A684V variant remain unknown. Methods: We report the clinical details of 14 cases with a heterozygous p.A684V variant in the WFS1 gene identified from target resequencing analysis of 63 previously reported deafness genes by next-generation sequencing of 15,684 hearing loss patients (mean age 27.5 ± 23.1 years old, 6574 male, 8612 female and 498 for whom information was unavailable). Results: Among the 14 patients from 13 families with the p.A684V variant, nine were sporadic cases. In addition, we confirmed de novo occurrence of this variant in seven families. This result strongly supports the notion that this variant was located on a mutational hotspot. When comparing previously reported cases of autosomal dominant WFS1 gene-associated hearing loss, most of the patients in this study showed severe-to-profound bilateral sensorineural hearing loss (genotype–phenotype correlation). Two patients had optic atrophy, while the others did not have any other complications. Conclusions: The identified heterozygous p.A684V variant appears to be a hotspot mutation and likely to cause severe-to-profound hearing loss in early childhood. Cochlear implantation is considered favorable in cases of hearing impairment due to this variant.

Objectives:In ultrasonography, gels are used as conduction media to improve sound transmission and to obtain high-quality images; however, gels are rarely used in hearing devices. The application of gel to couple the transducer to the ear could potentially improve the benefits of hearing aids, particularly cartilage conduction (CC) hearing aids, which deliver sound through vibrating the aural cartilage. This study aimed to investigate the effects of gel application on the performance of CC hearing aids. Methods:Twenty-three patients (30 ears) with aural atresia or severe canal stenosis were treated with CC hearing aids. The aided thresholds, maximum speech recognition scores (SRSs), and hearing levels at which the maximum SRS (dB [Max]) was observed were compared before and after gel application to the transducer of the CC hearing aids. Results:Thresholds > 1 kHz significantly decreased (improved) when the gel was applied to the transducer (p < 0.05). The threshold improvement at 1 kHz was significantly better than that at 0.5 kHz, and that at 4 kHz was significantly better than at 0.25 and 0.5 kHz. No significant differences were observed in the maximum SRS or dB (Max). Conclusions:Gel application, which is considered to have minimum risk, showed statistically significant improvements in hearing levels at higher frequencies. Therefore, the application of gel can be considered a beneficial option to enhance the performance of CC hearing aids by improving the coupling conditions. Level of Evidence:4.

The ear molds and shells of hearing devices are generally designed using ear impressions. Computed tomography (CT) can provide information concerning ear structure, which can be utilized in computer-aided design to create hearing devices. This study aimed to compare the differences in hearing devices designed using either ear impressions or CT images. The ear chip of a cartilage conduction (CC) hearing device was designed based on the ear impression and CT images of patients with aural atresia. Three patients with bilateral (n = 1) or unilateral (n = 2) aural atresia participated in this study. The aided thresholds and subjective evaluations were compared. There were no serious problems with the use of either device, and no remarkable differences were observed regarding their respective audiological and subjective benefits. Regarding the subjective patient preferences, the hearing aid with the device designed via CT imaging was better in three ears of two patients, whereas the wearing comfort of the transducer was better for the device designed via the ear impression. The subjective evaluation of appearance varied among the cases. Finally, a device that was designed using CT findings was purchased for one patient. CT images can be utilized in computer-aided design to create CC hearing devices.

Objective Congenital aural atresia causes severe conductive hearing loss disturbing auditory development. The differences in speech recognition were investigated between bilateral and unilateral aural atresia.Design The maximum speech recognition scores (SRSs) were compared between patients with bilateral and unilateral aural atresia. In patients with unilateral aural atresia, the maximum SRSs were compared between the atretic and unaffected ears. Furthermore, the correct response rates for test material monosyllables were compared with those of patients with sensorineural hearing loss (SNHL), which had been previously obtained.Study sample Twenty-four patients with aural atresia (8 bilateral, and 16 unilateral) participated.Results The maximum SRS in unilateral atretic ears (median: 72%) was significantly lower than that in unaffected ears (median: 89%) (p < 0.05) and in bilateral atretic ears (median: 91%) (p < 0.05). Patients with aural atresia had relatively high correct response rates for monosyllables with low correct response rates by patients with SNHL. Conversely, incorrect responses were obtained for several words for which high correct-response rates were attained by patients with SNHL.Conclusions Poor unilateral atretic-ear development may induce low speech recognition, and the mechanisms underlying speech-recognition reduction differ from those in SNHL.

Congenital cytomegalovirus (cCMV) infection is the most common congenital viral infection and is the leading non-genetic cause of sensorineural hearing loss and an important cause of neurodevelopmental disabilities. Auto auditory brainstem response (AABR) is a simple hearing test and used for the purpose of neonatal hearing screening, but can use it for early detection hard of hearing within the study age of the model. We experienced two case of asymptomatic CMV infection in which congenital and late-onset hearing loss were diagnosed early with AABR, and hearing loss improved with valganciclovir.

Multiple endocrine neoplasia (MEN) with medullary thyroid carcinoma (MTC) is associated with rearranged during transfection (RET) mutations. The authors encountered four cases of MTC-related MEN type 2B (MEN2B) with RET codon M918T mutation in one family. Case 1 included a 19 year-old male diagnosed with MTC with lung metastases. Genetic testing revealed an RET codon M918T mutation, which indicated MEN2B. The patient responded partially to vandetanib and the disease has shown no progression in 25 months. Case 2 involved the mother of the patient in Case 1. She underwent total thyroidectomy (TT) when diagnosed with MTC-related MEN2B at 12 years of age, but was not counseled adequately. Cases 3 and 4 involved the sisters of the Case 1 patient and were assessed after Case 1 was diagnosed. Genetic testing revealed the same mutation. Case 3 was diagnosed with MTC and underwent TT. Case 4 was asymptomatic but underwent prophylactic TT; histopathologic examination revealed MTC tissue. Prophylactic TT prevented MTC from being detected at an advanced state. Genetic counseling is essential in treating MEN2B. The mother was uninformed about the genetic characteristics of MEN2B, delaying the detection of MTC in her children. The present study reaffirms the importance of family history and screening.

Various prognostic factors for idiopathic sudden sensorineural hearing loss (SSNHL) have been reported. Hearing loss directly derived from idiopathic SSNHL is important for understanding underlying pathogenesis and outcomes. We assessed the usefulness of evaluating hearing loss and recovery of idiopathic SSNHL on the basis of estimated hearing loss. The study included 115 patients whose characteristics and outcomes of hearing loss were investigated. The effects of vertigo/dizziness and age on hearing thresholds before/after treatment, nonaffected ear threshold, estimated hearing loss, improvement of hearing loss, and estimated remaining hearing loss were investigated. Vertigo/dizziness was a significant prognostic factor for hearing. In vertigo/dizziness patients, significantly more severe hearing loss and poorer improvement of hearing loss were observed above 500 Hz and below 1000 Hz, respectively. Severe hearing disorder remained at all frequencies. Conversely, post-treatment thresholds were significantly higher in the older population (≥65 years), although no differences in pretreatment thresholds were observed between the younger (≤64 years) and older populations. However, on the basis of nonaffected ear thresholds, previously existing hearing loss could have influenced the outcome. Thus, comparison of hearing outcomes between affected and nonaffected ears is essential for understanding hearing loss and outcomes in idiopathic SSNHL cases with existing hearing disorder.

Cartilage conduction (CC) is a form of conduction that allows a relatively loud sound to be audible when a transducer is placed on the aural cartilage. The CC transmission mechanism has gradually been elucidated, allowing for the development of CC hearing aids (CC-HAs), which are clinically available in Japan. However, CC is still not fully understood. This review summarizes previous CC reports to facilitate its understanding. Concerning the transmission mechanism, the sound pressure level in the ear canal was found to increase when the transducer was attached to the aural cartilage, compared to an unattached condition. Further, inserting an earplug and injecting water into the ear canal shifted the CC threshold, indicating the considerable influence of cartilage–air conduction on the transmission. In CC, the aural cartilage resembles the movable plate of a vibration speaker. This unique transduction mechanism is responsible for the CC characteristics. In terms of clinical applications, CC-HAs are a good option for patients with aural atresia, despite inferior signal transmission compared to bone conduction in bony atretic ears. The advantages of CC, namely comfort, stable fixation, esthetics, and non-invasiveness, facilitate its clinical use.

Gel is a conduction medium used to improve signal transmission and is applied in ultrasonography to obtain high-quality images; however, it is rarely used in hearing devices. The application of gel to couple the transducer to the ear could potentially improve the benefits of hearing aids, particularly cartilage conduction (CC) hearing aids, which deliver signals by vibration. The aim of this study was to investigate the impact of gel application on the efficacy of CC hearing aids in 23 patients (30 ears). The aided thresholds, maximum speech recognition scores (SRSs), and hearing level at which the maximum SRS was observed were compared before and after the application of gel to the transducer of CC hearing aids. Subjective impressions of hearing improvement, on applying the gel, were also evaluated. The aided thresholds above 1 kHz significantly improved on applying the gel to the transducer. The effectiveness of gel application was better for patients who reported improvement in hearing. The audiometric results were consistent with subjective evaluations. The application of gel has minimal risk, and its benefits can be verified easily with subjective evaluation. Gel application can be considered an effective option for improving the benefits of CC hearing aids.

軟骨伝導補聴器は耳軟骨の振動を介して音を伝える軟骨伝導を用いた新しい種類の補聴器で2017年11月に発売となった. 既存の補聴器で対応が難しい外耳道閉鎖症などの症例に対しても非常に効果があり, 補聴手段の新しい選択肢になる. 取扱医療機関は増加しているが全国的な認知度は必ずしも高くはない. 全国の難聴者がその恩恵を受けることができるように普及を進めていくため, 当院にフィッティング希望で2019年2月までに受診した59例の難聴者が, どこで軟骨伝導補聴器の情報を知り受診に至ったかについて調査した. 当院外来通院中の6例を除き, 受診契機となった情報源 (受診契機) が判別できたのは45例であった. 受診契機は医師, メディア (インターネット・TV), 患者会, 家族・友人, 学校の先生, 補聴器販売店に分類し3カ月ごとの経時的な変化を調べた. また病態別に3群に分類し経時的な変化についても評価した. その結果全体では患者会が最も多く約3分の1を占めていた. 経時的な変化では販売開始当初の1年間は医師の例は少なかったが, 直近の3カ月では大幅に増加していた. 補聴器販売店は販売開始当初半年間だけであった. 今回の結果から医療機関での認知度は上昇傾向にあると思われた. 補聴器販売店に対しては再度情報を提供する必要があると思われた. 成人の症例が少なく, 成人の外耳道閉鎖症例に対するアプローチが今後の課題であると考えられた.

Objectives: Hearing loss is a serious problem in infants and children because it may interfere with the development of typical speech, verbal language, and auditory and communication skills. By measuring hearing ability (thresholds) as early as possible, even as early as during infancy, effective treatment can be administered. These treatments may significantly reduce the handicap associated with hearing loss. However, at times during behavioral auditory tests, observers cannot determine whether or not an accurate threshold was obtained. To support the use of infant audiometry for accurate diagnosis, audiologic behavioral responses may be obtained by selecting stimuli that interest infants, e.g., their mothers' voices. Methods: We evaluated 30 infants who were presented to our hospital for behavioral auditory assessment in 2016. The infants' ages ranged from 4 months to 3 years and 6 months. The mean age was 1 year and 10 months +/- 10 months ( +/- standard deviation). The infants' hearing thresholds for their mothers' voices and warble tones at 250-4000 Hz were measured. Auditory brainstem response (ABR) had already been evaluated in 24 infants. Relationships between mother's voice and warble tone or ABR thresholds as well as responses to the initial stimuli and stimuli at the threshold were investigated. These responses were classified into four grades (no response, uncertain response, possible positive response, and positive response), and the response to mother's voice and warble tone were subsequently compared. Results: Mother's voice thresholds significantly correlated with all warble tone thresholds. In the relationship between the mother's voice threshold and average hearing levels of 500, 1000, and 2000 Hz, two infants were outliers. In these infants, the average hearing levels were relatively higher than the mother's voice thresholds. Judging from their ABR thresholds, the mother's voice thresholds were valid and the average hearing levels were worse than their original assessed hearing ability. The responses to mothers' voices were more distinct than those to warble tones, both for initial stimuli presentation and the determined threshold. Conclusions: Audiologic behavioral responses to mothers' voices were clearer than those for warble tones. Evaluations that use the mother's voice threshold are useful for estimating hearing levels in infants.

要旨 : 機能性難聴の背景には難聴を引き起こす誘因があると思われ, それらの解消が聴力改善につながると考えられる。今回我々は, 機能性難聴症例で, 誘因の早期解消により聴力が早期に改善するか検討した。対象は当科で過去9年8か月間に機能性難聴と診断され, 積極的な治療介入を行わなかった38例である。男性13例, 女性25例。年齢の中央値は14歳 (7～72歳) である。対象を誘因が早期に解消できたと思われる群 (早期解消群) と, 誘因を長期に解消できなかったと思われる群 (長期非解消群) に分類した。両群間で年齢, 性別, 患側で背景に差はなかった。また初診時および最終的な聴力, そして通院中の聴力レベルの改善も同様であった。しかし, 初診時から聴力が安定するまでの期間, および外来通院期間は早期解消群で有意に短かった。本検討では誘因を早期に解消することで, より早期に聴力が改善することがわかった。

AimNoise exposure during pregnancy has been reported to cause fetal hearing impairment. However, little is known about the effects of noise exposure during various gestational stages on postnatal hearing. In the present study, we investigated the effects of noise exposure on auditory brainstem response (ABR) at the early, mid-, and late gestational periods in newborn guinea pigs.MethodsPregnant guinea pigs were exposed to 4-kHz pure tone at a 120-dB sound pressure level for 4 h. We divided the animals into four groups as follows: the control, early gestational exposure, mid-gestational exposure, and late gestational exposure groups. ABR thresholds and latencies in newborns were recorded using 1-, 2-, and 4-kHz tone burst on postnatal days 1, 7, 14, and 28. Changes in ABR thresholds and latencies were measured between the 4 x 4 and 4 x 3 factorial groups mentioned above (gestational periods x postnatal days, gestational periods x frequencies).ResultsThe thresholds were low in the order of control group<early gestational exposure group<mid-gestational exposure group and late gestational exposure group. Noise exposure during pregnancy influenced ABR thresholds in neonatal guinea pigs.ConclusionThis is the first study to show that noise exposure during the early, mid-, and late gestational periods significantly elevated ABR thresholds in neonatal guinea pigs.

A hearing aid using cartilage conduction (CC) has been proposed as an alternative to bone conduction (BC) hearing aids. The transducer developed for this application is lightweight, requires a much smaller fixation force than a BC hearing aid, and is more convenient to use. CC can be of great benefit to patients with fibrotic aural atresia. Fibrotic tissue connected to the ossicles provides an additional pathway (termed fibrotic tissue pathway) for sound to reach the cochlea by means of CC. To address the function of fibrotic tissue pathway, BC and CC thresholds were measured in six ears with fibrotic aural atresia. The relationship between the CC thresholds and the results of computed tomography was investigated. In the ears with the presence of a fibrotic tissue pathway, the CC thresholds were lower than the BC thresholds at 0.5 and 1.0 kHz. At 2.0 kHz, no significant difference was observed between the BC and CC thresholds. The current findings suggest that sound in the low to middle frequency range is transmitted more efficiently by CC via a fibrotic tissue pathway than BC. The development of hearing devices using CC can contribute to rehabilitation, particularly in patients with fibrotic aural atresia.

Mohs' chemosurgeryは腫瘍を化学的に固定化して切除する方法である。今回，右外耳道癌の転移性皮膚腫瘍に対して本治療を施行した。症例は48歳男性。2007年7月に本疾患に対して右側頭骨外側切除術，右頸部郭清術および右耳下腺浅葉切除術，その後放射線治療を施行した。治療後，放射線性側頭骨壊死が出現したが，2008年4月より右耳介後部の皮膚に再発が認められた。化学療法を行ったが，腫瘍は手拳大に急速に増大して，断続的な浸出液と出血，強い悪臭が出現し，全身状態の衰弱とともに患者のQOLは低下を示した。根治治療が不可能と考え，Mohs' chemosurgery法をmodifyして行った。腫瘍表面にMohs'ペーストを塗布し，24時間後に灰白色に固定化された腫瘍を切除した。同手法を3回繰り返して行うと，腫瘍は著明に縮小して出血や浸出液，悪臭はほぼ消失し，患者の疼痛は軽減した。Mohs' chemosurgeryは，腫瘍縮小に加えQOLを重視した緩和ケアに有用な治療法として期待される。