Comprehensive analysis of syndromic hearing loss patients in Japan.

More than 400 syndromes associated with hearing loss and other symptoms have been described, corresponding to 30% of cases of hereditary hearing loss. In this study we aimed to clarify the mutation spectrum of syndromic hearing loss patients in Japan by using next-generation sequencing analysis with a multiple syndromic targeted resequencing panel (36 target genes). We analyzed single nucleotide variants, small insertions, deletions and copy number variations in the target genes. We enrolled 140 patients with any of 14 syndromes (BOR syndrome, Waardenburg syndrome, osteogenesis imperfecta, spondyloepiphyseal dysplasia congenita, Stickler syndrome, CHARGE syndrome, Jervell and Lange-Nielsen syndrome, Pendred syndrome, Klippel-Feil syndrome, Alport syndrome, Norrie disease, Treacher-Collins syndrome, Perrault syndrome and auditory neuropathy with optic atrophy) and identified the causative variants in 56% of the patients. This analysis could identify the causative variants in syndromic hearing loss patients in a short time with a high diagnostic rate. In addition, it was useful for the analysis of the cases who only partially fulfilled the diagnostic criteria.

Relationships among drinking and smoking habits, history of diseases, body mass index and idiopathic sudden sensorineural hearing loss in Japanese patients.

OBJECTIVES: To present the cardiovascular risk factors in idiopathic sudden sensorineural hearing loss (SSNHL) patients enrolled in a nationwide epidemiological survey of hearing disorders in Japan. MATERIALS AND METHODS: We compiled the cardiovascular risk factors in 3073 idiopathic SSNHL subjects (1621 men and 1452 women) and compared their proportions with controls as part of the National Health and Nutrition Survey in Japan, 2014. The cardiovascular risk factors consisted of drinking and smoking habits, a history of five conditions related to cardiovascular disease and body mass index. RESULTS: The proportion of current smokers was significantly higher among men aged 50-59, 60-69 and 70+ and among women aged 30-39, 40-49 and 60-69. The proportion of patients with a history of diabetes mellitus was significantly higher among men aged 50-59, 60-69 and 70+, but not in women. In addition, male and female SSNHL subjects aged 60-69 showed lower proportions of current drinking; and female SSNHL subjects aged 60-69 showed higher proportions of overweight (BMI ≥25 kg/m2). CONCLUSIONS: The present cross-sectional study revealed showed significantly higher proportions of current smokers among both men and women as well as those with a history of diabetes mellitus among men across many age groups in patients with idiopathic SSNHL compared with the controls.

The clinical features and prognosis of mumps-associated hearing loss: a retrospective, multi-institutional investigation in Japan.

CONCLUSIONS: The majority of hearing loss due to mumps presents as unilateral profound sensorineural hearing loss, which is refractory to treatment. In rare cases of bilateral total deafness, cochlear implants were beneficial for speech perception. Vaccination against mumps is recommended to prevent mumps-associated hearing loss. OBJECTIVE: The objective of this study is to investigate the clinical characteristics of hearing loss due to mumps and to evaluate hearing outcomes. SUBJECTS AND METHODS: The clinical parameters were analyzed under a retrospective multi-institutional study design in patients diagnosed with hearing loss due to mumps at the Otolaryngology departments of 19 hospitals between 1987 and 2016. RESULTS: Sixty-seven patients with hearing loss due to mumps were enrolled. The study population consisted of 35 males and 32 females, ranging in age from 1 to 54, with a median age of 9.5 years. Sixty-three patients presented with unilateral, and 4 with bilateral hearing loss. Profound hearing loss was observed in 65 ears. Only one ear with severe hearing loss showed complete recovery. Four patients with bilateral hearing loss received cochlear implant surgery. Most of the patients with hearing loss due to mumps had no history of vaccination.

A Melanocytic Lesion Extending From the Right Ear to the Nasopharynx in a Pediatric Patient: A Case Report.

BACKGROUND: Blue nevus is a benign dermal melanocyte tumor that mainly arises from the skin. We report an extremely rare case of blue nevus in a pediatric patient with extensive progression from the middle ear and inner ear to the nasopharynx through the Eustachian tube. CASE REPORT: A 2-year-old girl with blue tympanum was referred to our department. Computed tomography scans and magnetic resonance imaging were performed, followed by a tissue biopsy and histopathologic evaluations. Radiologic examinations revealed that the lesion had progressed beyond the middle ear into the inner ear and the nasopharynx through the Eustachian tube. Subsequent histopathologic examinations indicated dermal dendritic melanocytic proliferations, but no evidence of malignancy. Based on the clinical and histopathologic findings, we concluded that the lesion was consistent with blue nevus. DISCUSSION: Blue nevus is a relatively common skin lesion. However, no prior reports have described the extension of blue nevus from the auditory organ to the nasopharynx in a pediatric patient. Despite the benign nature of the lesion, the patient experienced profound hearing loss in the affected ear, which necessitates continued monitoring as the lesion may expand with patient growth.

TMC1 and TMC2 are components of the mechanotransduction channel in hair cells of the mammalian inner ear.

Sensory transduction in auditory and vestibular hair cells requires expression of transmembrane channel-like (Tmc) 1 and 2 genes, but the function of these genes is unknown. To investigate the hypothesis that TMC1 and TMC2 proteins are components of the mechanosensitive ion channels that convert mechanical information into electrical signals, we recorded whole-cell and single-channel currents from mouse hair cells that expressed Tmc1, Tmc2, or mutant Tmc1. Cells that expressed Tmc2 had high calcium permeability and large single-channel currents, while cells with mutant Tmc1 had reduced calcium permeability and reduced single-channel currents. Cells that expressed Tmc1 and Tmc2 had a broad range of single-channel currents, suggesting multiple heteromeric assemblies of TMC subunits. The data demonstrate TMC1 and TMC2 are components of hair cell transduction channels and contribute to permeation properties. Gradients in TMC channel composition may also contribute to variation in sensory transduction along the tonotopic axis of the mammalian cochlea.

Are patients with severe epistaxis caused by hereditary hemorrhagic telangiectasia satisfied with nostril closure surgery?

OBJECTIVE: Recurrent epistaxis as a manifestation of hereditary hemorrhagic telangiectasia (HHT) is usually difficult to control. Although no treatment is regarded to be completely efficacious, nostril closure is considered a modality of choice for the most severe cases. The cessation of airflow resulting from this procedure can stop bleeding by minimizing risk factors. However, loss of nasal functions is a disadvantage of nostril closure. We conducted a questionnaire survey of patients who underwent nostril closure surgery, regarding the effects and disadvantages of the operation. METHODS: Seven patients were asked questions on issues including frequency and severity of epistaxis pre- and post-operatively, satisfaction of treatment, and impairment in daily living activities. RESULTS: Most patients reported complete cessation of bleeding. Some still had bleeding, but the frequency and severity were far lower. No transfusions were required in any of the cases. Patients reported some disadvantages, for example, respiratory, olfactory, and phonatory issues. Six out of seven patients were very satisfied with the outcome of surgery. CONCLUSION: Nostril closure surgery can remarkably reduce frequency and volume of epistaxis. Our survey indicated that satisfactory results were achieved. However, difficulties caused by complete nasal obstruction varied. Thus, individualized coping strategies are required.

[Cartilage palisade tympanoplasty for adhesive otitis media].

PURPOSE: We evaluated the clinical utility of cartilage palisade tympanoplasty (CRPT) in adhesive otitis media, a condition known to recur frequently with poor success in hearing gain. OBJECTIVE: Specimens were 9 ears having adhesive otitis media and undergoing CPT in January 2006 and December 2007. Cases of pars tensa cholesteatoma were excluded. Mean subject age was 35.2 years. Seven had total drum adhesion and 2 posterior half-adhesion. Preoperative pure-tone hearing averaged 20-102 dB (mean: 56 dB). METHODS: A small piece of cartilage harvested from the cymba was obliquely sectioned to yield wide, thin cartilage strips. Strips were overlapped slightly anteriorly to posteriorly parallel to the malleus handle when present. Tympanoplasty type 1 was conducted in 2 cases, type 3c in 6, and type 4c in 1. RESULTS: No ears undergoing CPT produced recurrent adhesion or perforation although 2 suffered transient partial erosion healed easily in topical management. An air-bone gap of <15 dB was achieved in 3 ears, a hearing gain exceeding 15 dB in 5, and a hearing level of less than 30 dB in 3. Conditions falling in at least 1 of the above categories are considered successful based on Japan Otological Society criteria. Seven of the 9 (78%) were regarded as audiologically successful. CONCLUSION: CPT conducted for adhesive otitis media appears worthwhile, given the present better-than-expected results in our cases, although further study is needed to confirm this conclusion.

[Community-based hearing screening project in Tochigi prefecture and results thorough audiometric test].

Community-based hearing screening projects have the objectives of screening hearing to identify early and intervene in cases of hearing-impaired infants and to consider how to implement mass screening, education, and support suitable. This project started in Tochigi prefecture in 2002. Of 6198 infants undergoing automatic auditory brainstem response (ABR), those rescreened accounted for 1.1% and those referred for diagnostic testing for 0.7%. After initial thorough audiometric testing, 20 infants were suggested to have bilateral hearing loss, although this was finally reduced to 17. Inconsistency between automatic and conventional ABR was found in 10 cases. Automatic ABR showed 7 false-positive and 3 false-negative cases, all of which finally proved to be within normal range hearing. Newborn-hearing screening enabled infants with hearing loss to be identified early. Japan has yet, however, to implement needed medical treatment and appropriate educational and support systems for hearing-impaired infants.

[Fiberscopic reduction under local anesthesia for anterior arytenoid cartilage dislocation].

Arytenoid cartilage dislocation is a known complication of tracheal intubation and is also a type of laryngeal injury. Although spontaneous recovery has been reported, most patients require reduction via pharyngoscopy under general or neuroleptic anesthesia, and some must be treated by open reduction such as laryngoplasty. We report 8 cases of arytenoid cartilage dislocation between August 2003 and August 2004. Excluding 3 patients who recovered spontaneously, we conducted reduction under local anesthesia as an ambulatory procedure in the other 5 with anterior dislocation, i.e., 2 men and 3 women aged 53 to 75 years old. Of these 5, dislocation occurred after tracheal intubation in 4, and in 1 after wearing a laryngeal mask. The outcome was favorable in all 5. Surgery was conducteded after a fiberscope was inserted nasally and a urethral balloon catheter was inserted via the other nasal cavity under topical anesthesia with 4% lidocaine for both nasal cavities and the larynx. While monitoring the larynx, we expanded the balloon and pulled it away from the glottis. The expanded balloon was then placed at the arytenoid region for a few seconds. This procedure was repeated several times to achieve reduction. Three patients recovered well within 1 to 2 weeks of the first reduction, while 2 requierd a second reduction because of insufficient improvement after the first. These two both showed improved vocal cord movement and recovery from hoarseness within 1 to 2 weeks after the second reduction. We conducted 7 reductions without complications in any patient. Our approach is usable in the ambulatory setting, and is simple, minimally invasive, and effective. We consider it to be useful treatment for anterior arytenoid cartilage dislocation.

Phenotype of DFNA11: a nonsyndromic hearing loss caused by a myosin VIIA mutation.

OBJECTIVES/HYPOTHESIS: To characterize the audiovestibular phenotype of DFNA11, an autosomal dominant nonsyndromic hearing impairment caused by a mutation in the myosin VIIA gene (MYO7A), including whether DFNA11-affected subjects have retinal degeneration as is characteristic of Usher syndrome type 1B, caused by different MYO7A mutations. STUDY DESIGN: Retrospective study of audiovestibular and ophthalmological data in a Japanese family linked to DFNA11. METHODS: Otoscopic examination and pure-tone audiometry were performed in all participants in the family. Selected subjects underwent additional examinations including speech discrimination scoring, acoustic reflex measurements, Békésy audiometry, evoked and distortion-product otoacoustic emissions, auditory brainstem responses, and bithermal caloric testing; visual acuity, ocular tonometry, slit-lamp examination, ophthalmoscopy, and electroretinography; and computed tomography of the temporal bone. RESULTS: Most affected individuals had moderate cochlear hearing loss beginning in the second decade and progressing at all frequencies. Variable degrees of asymptomatic vestibular dysfunction were present. Computed tomography showed normal inner and middle ear structures. No evidence suggested retinitis pigmentosa. CONCLUSIONS: The phenotype of DFNA11 is postlingual, nonsyndromic sensorineural hearing loss with gradual progression. Showing moderate hearing loss with asymptomatic variable vestibular dysfunction and no retinal degeneration, the DFNA11 phenotype is mildest among phenotypes caused by MYO7A mutations.