Mutations in the OTOF gene are a common cause of hereditary hearing loss and the main cause of auditory neuropathy spectrum disorder (ANSD). Although it is reported that most of the patients with OTOF mutations have stable, congenital or prelingual onset severe-to-profound hearing loss, some patients show atypical clinical phenotypes, and the genotype-phenotype correlation in patients with OTOF mutations is not yet fully understood. In this study, we aimed to reveal detailed clinical characteristics of OTOF-related hearing loss patients and the genotype-phenotype correlation. Detailed clinical information was available for 64 patients in our database who were diagnosed with OTOF-related hearing loss. As reported previously, most of the patients (90.6%) showed a "typical" phenotype; prelingual and severe-to-profound hearing loss. Forty-seven patients (73.4%) underwent cochlear implantation surgery and showed successful outcomes; approximately 85-90% of the patients showed a hearing level of 20-39 dB with cochlear implant and a Categories of Auditory Performance (CAP) scale level 6 or better. Although truncating mutations and p.Arg1939Gln were clearly related to severe phenotype, almost half of the patients with one or more non-truncating mutations showed mild-to-moderate hearing loss. Notably, patients with p.His513Arg, p.Ile1573Thr and p.Glu1910Lys showed "true" auditory neuropathy-like clinical characteristics. In this study, we have clarified genotype-phenotype correlation and efficacy of cochlear implantation for OTOF-related hearing loss patients in the biggest cohort studied to date. We believe that the clinical characteristics and genotype-phenotype correlation found in this study will support preoperative counseling and appropriate intervention for OTOF-related hearing loss patients.
In the treatment of early-stage tongue cancer, brachytherapy has been considered a good indication of the point of preserving shape and function. In recent years, the number of long-term survivors after radiotherapy has increased, and secondary cancers in the irradiated field have begun to attract attention. Herein, we report here on two cases of radiation-induced cancer of the tongue developing after brachytherapy.
Conclusion: The extent of middle ear aeration before second-stage canal wall-down (CWD) tympanoplasty was correlated with postoperative middle ear stability. Objective: To evaluate middle ear aeration before second-stage CWD tympanoplasty as a predictor of postoperative re-aeration potential and external auditory canal (EAC) stability in staged CWD tympanoplasty with soft-wall reconstruction (SWR). Methods: Middle ear aeration was evaluated before and at 1 year after the second-stage operation in patients who underwent staged CWD tympanoplasty with SWR for middle ear cholesteatoma. Based on the computed tomography (CT) findings, middle ear aeration was graded as A when the mastoid and tympanic cavities were aerated, B when only the tympanic cavity was aerated, and C in cases with no aeration in the tympanic cavity. We also examined postoperative EAC stability. Results: Forty-one ears were included. In all, 17 of 19 ears (89.5%) with grade A aeration preoperatively maintained grade A aeration postoperatively, while 5 of 18 ears (27.8%) with grade B aeration had grade A aeration, and no ear with grade C aeration had recovered grade A aeration. All ears with grade A aeration preoperatively maintained smooth EACs. EAC retraction requiring additional treatment occurred in five ears with grade B aeration and all ears with grade C aeration.
Multiple endocrine neoplasia type 2B (MEN 2B), an autosomal dominant syndrome, involves endocrine tumors caused by RET protooncogene germ-line mutations in chromosome 10. The case we report, initially suspected in jaw deformity surgery, was a 19-year-old man whose malocclusion was found in a school health checkup. In surgery, his somewhat abnormal buccal mucosa and mandible were biopsied and pathological findings indicated multiple mandibular and buccal mucosal neuromas suggesting de novo MEN 2B. Whole-body examination confirmed diagnosis, showing medullary thyroid carcinoma, megacolon, prominent corneal nerves, and mucosal tongue and lips neuromas. Gene examination showed germ-line mutations of the RET protooncogene affecting codon 918 in exon 16. Medullary thyroid carcinoma was treated by total thyroidectomy with central compartment and bilateral neck dissection. Pathological analysis revealed multiple bilateral lobe cancer foci and one central-compartment lymph-node metastasis were detected pathologically. Normal calcitonin and CEA serum levels proved the biochemical cure for medullary thyroid carcinoma 7 months postoperatively. MEN 2B-associated medullary thyroid carcinoma is more aggressive than that without known gene mutations, necessitating early diagnosis and close follow-up. Findings of multiple oral-cavity neuromas thus mandate examination for MEN 2B.
Fracture of the stapes following head injury is thought to be clinically less common than displacement of the incus or disarticulation of the incudostapedial joint. We present a case of traumatic fracture of the stapes due to an indirect force without dislocation of the incudostapedial joint.A 52-year-old male was referred to our hospital complaining of hearing loss on the left side four weeks after a traffic accident that had led to the patient sustaining multiple intracranial injuries with disturbance of consciousness. He recovered with conservative treatment and subsequently became aware of hearing loss in the left ear. A pure-tone audiogram showed a 70-dBHL conductive hearing loss with a 40-dB air-bone gap. Temporal bone computed tomography (CT) revealed disarticulation of the incudomalleolar joint and displacement of the stapes. After exploratory tympanotomy, we found disarticulation of the incudomalleolar joint, and fracture of both the stapedial crura, however, the incudostapedial joint and the footplate of the stapes were intact. Six months after type IV tympanoplasty, the patient achieved air-bone gap closure to within 15 dB.In the present case, the incudostapedial joint was preserved, while the patient had sustained considerably forceful head injury that caused multiple intracranial injuries and dislocation of the ossicles, which is a rare form in indirect trauma of the ossicular chain. In addition, multiplanar reconstruction images of temporal bone CT allowed us to accurately diagnose the pathology of the ossicular chain in the patient.
