Novel domain-specific POU3F4 mutations are associated with X-linked deafness: examples from different populations

BACKGROUND: Mutations in the POU3F4 gene cause X-linked deafness type 3 (DFN3), which is characterized by inner ear anomalies. METHODS: Three Turkish, one Ecuadorian, and one Nigerian families were included based on either inner ear anomalies detected in probands or X-linked family histories. Exome sequencing and/or Sanger sequencing were performed in order to identify the causative DNA variants in these families. RESULTS: Four novel, c.707A>C (p.(Glu236Ala)), c.772delG (p.(Glu258ArgfsX30)), c.902C>T (p.(Pro301Leu)), c.987T>C (p.(Ile308Thr)), and one previously reported mutation c.346delG (p.(Ala116ProfsX26)) in POU3F4, were identified. All mutations identified are predicted to affect the POU-specific or POU homeo domains of the protein and co-segregated with deafness in all families. CONCLUSIONS: Expanding the spectrum of POU3F4 mutations in different populations along with their associated phenotypes provides better understanding of their clinical importance and will be helpful in clinical evaluation and counseling of the affected individuals. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (doi:10.1186/s12881-015-0149-2) contains supplementary material, which is available to authorized users

A novel missense mutation in a C2 domain of OTOF results in autosomal recessive auditory neuropathy

Screening of 12 Turkish families with apparently autosomal recessive nonsyndromic sensorineural deafness without GJB2 and mtDNA m.1555A > G mutations for 11 previously mapped recessive deafness loci showed a family in which hearing loss cosegregated with the DFNB9 (OTOF) locus. Three affected children were later found to carry a novel homozygous c.3032T > C (p.Leu1011Pro) mutation in the OTOF gene. Both parents were heterozygous for the mutation. p.Leu1011Pro alters a conserved leucine residue in the C2D domain of otoferlin. Pure tone audiometry of the family showed severe to profound sensorineural hearing loss (with U-shape audiograms) in children, and normal hearing in the parents. Otoacoustic emissions and auditory brainstem response (ABR) suggested the presence of auditory neuropathy in affected individuals

Effects of cochlear implantation on auditory temporal processing in single-sided deafness: a report of two cases

Abstract Background Individuals with single-sided deafness have difficulty understanding speech in noise and determining sound direction in their daily lives. Cochlear implantation, a globally accepted rehabilitation method, has recently become used in Turkey in patients with single-sided deafness. In this study, the effects of cochlear implants on auditory temporal processing skills, speech-in-noise perception performance, tinnitus, and subjective benefit were reported in two patients with single-sided deafness. Case presentation The cochlear implant was applied to two children with single-sided deafness with and without inner ear malformation. Speech in noise score, gaps in noise test, duration, and frequency pattern test were used. Also, cochlear implant benefits and the presence of tinnitus were questioned by questionnaires. Speech-in-noise perception performance and auditory temporal processing skills improved in the postoperative period compared to the preoperative period. It was also observed that although the cochlear implant improved the quality of life, motivation for device use decreased in the first 6 months of the postoperative period. Conclusions Cochlear implantation in individuals with single-sided deafness with and without inner ear malformation is useful in increasing auditory temporal processing skills and understanding speech in noise ability. In addition, cochlear implantation is a useful method to improve quality of life, especially regarding spatial perception, and it did not cause tinnitus in our patients. Selecting an implant model that enables data logging provides an advantage in determining the motivation to use the implants

Cochlear Implantation in Patients with Keratitis-Ichthyosis-Deafness Syndrome: A Report of Two Cases

Background. Keratitis-ichthyosis-deafness (KID) syndrome is a syndrome which presents with hearing loss and visual and keratinization disorders. In such patients, hearing aids cannot be effectively used in the rehabilitation of hearing loss because of the frequent blockage of the external ear canal with epithelial debris and due to dry and tense skin of the external ear canal. Moreover, severe or profound hearing loss also limits the benefits gained from the conventional hearing aids. On the other hand, cochlear implantation is a method that has been used in limited cases in the literature. Case Report. This study presents the results of cochlear implantation applied in our clinic to two children who had been diagnosed with KID. Audiological assessments before and after the cochlear implant operation were performed using pure-tone audiometry, immittance audiometry, and auditory brainstem response (ABR), and the postoperative follow-up was conducted using pure-tone audiometry. Conclusion. Skin problems, visual disturbances, and other additional problems complicate the short-term and long-term rehabilitation after implantation in individuals with KID syndrome. Close monitoring should be exercised due to possible skin complications that may develop during the postoperative period. The families and rehabilitation teams should be warned about the possible visual disturbances and skin complications

Niikawa–Kuroki (Kabuki) syndrome with congenital sensorineural deafness: Evidence for a wide spectrum of inner ear abnormalities

Hearing loss, mainly due to recurrent otitis media, has been reported in approximately 40% of individuals with Niikawa–Kuroki (Kabuki) syndrome (NKS). Sensorineural hearing loss leading to congenital or prelingual deafness has been described rarely. We have identified two unrelated individuals with Niikawa–Kuroki syndrome among 535 probands who have severe to profound sensorineural deafness. Bilateral absence of the cochlea with dilated dysplastic vestibule and unilateral enlarged vestibule were demonstrated in these two individuals. In conclusion, Niikawa–Kuroki syndrome should be kept in mind when evaluating an individual with congenital deafness and a wide spectrum of inner ear abnormalities occurs in this syndrome

Evaluation of the Efficacy of Curcumin in Experimentally Induced Acute Otitis Media in Rats

WOS: 000335494400004PubMed: 24642584Objectives: We investigated the effect of curcumin (CMN) in the treatment of experimentally induced acute otitis media (AOM) in rats. Method: Thirty-two Sprague-Dawley female rats were used, yielding 64 temporal bones. Group 1 was the control group. For groups 2 to 4, AOM was induced experimentally, and saline, antibiotics (sulbactam-ampicillin), or CMN were administered for 14 days to groups 2, 3, and 4, respectively. During the histological examination, thickening of the tympanic membrane, damage to the epithelium, inflammation, and sclerosis were evaluated. Results: The AOM+antibiotic and AOM+CMN groups exhibited reduced histological damage compared with the AOM+saline group. No significant differences in thickening of the tympanic membrane or damage to the epithelium or inflammation were observed between the AOM+antibiotic and the AOM+CMN groups. However, the sclerosis values of the AOM+CMN group were significantly lower than those of the AOM+antibiotic group. Conclusion: CMN treatment resulted in similar effects on the experimentally induced AOM model as did the antibiotic treatment. The efficacy of this treatment may be related to its effects on the production of various inflammatory cytokines. In light of the worldwide increase in antibiotic resistance and the mild side effects of CMN, we suggest that CMN therapy may be a promising option in AOM treatment

Audio-vestibular and radiological analysis in Meniere’s disease

Objective: Intravenous gadolinium-enhanced inner ear magnetic resonance imaging (IV Gd-enhanced inner ear MRI) is a new technique for diagnosing Meniere’s disease (MD). Vestibular tests have also long been used for MD, but which tests should be included in the oto-neurological test battery remains controversial. The evaluation method to be used to confirm the clinical diagnosis in MD is not clear. This study aimed to examine the results of vestibular tests and IV Gd-enhanced inner ear MRI in individuals diagnosed with unilateral definite Meniere's disease. Methods: IV Gd-enhanced inner ear MRI (Endolymphatic Hydrops [EH] and Perilymphatic Enhancement [PE]), conventional audiometry (0.25–8 kHz), video Head Impulse Test (vHIT), cervical Vestibular Evoked Myogenic Potential (cVEMP), air caloric test, and dizziness handicap inventory were applied to 16 adult patients diagnosed with unilateral definite MD. Results: Among the patients with definite MD, EH (cochlear and/or vestibular) was identified in 93.7% and 68.7% of the symptomatic and the asymptomatic ears, respectively. There was a positive correlation between the hearing thresholds at 2, 4, 6 and 8 kHz and the degree of cochlear EH (p < 0.05). PE (cochlear and/or vestibular) was observed in 37.5% of the asymptomatic and symptomatic ears. The sensitivity of the vestibular test battery (vHIT, cVEMP, and caloric test) was 100% and its specificity was 50%, while the sensitivity of the IV Gd-enhanced inner ear MRI (EH and PE together) was 93.8% and the specificity was 81.3%. Conclusion: MRI had higher sensitivity and specificity than the vestibular test battery. PE or vHIT alone was not considered to be reliable in the diagnosis of MD. In suspected MD, the clinical history, hearing tests, and IV Gd-enhanced inner ear MRI are sufficient for diagnosis. If MRI technique is not possible, vestibular tests (caloric test and cVEMP, not vHIT) can provide reliable results when evaluated together

Investigation of the Presence of Biofilms in Chronic Suppurative Otitis Media, Nonsuppurative Otitis Media, and Chronic Otitis Media with Cholesteatoma by Scanning Electron Microscopy

Objective. Biofilms have been shown to play a major role in the pathogenesis of otolaryngologic infections. However, very limited studies have been undertaken to demonstrate the presence of biofilms in tissues from patients with chronic otitis media (COM) with or without cholesteatoma. Our objective is to study the presence of biofilms in humans with chronic suppurative and nonsuppurative otitis media and cholesteatoma. Study Design. In all, 102 tissue specimens (middle ear, mastoid tissue, and ossicle samples) were collected during surgery from 34 patients. Methods. The samples were processed for the investigation of biofilms by scanning electron microscopy (SEM). Results. Our research supports the hypothesis in which biofilms are involved in chronic suppurative otitis media, cholesteatoma, and, to a lesser degree, chronic nonsuppurative otitis media. There were higher rates in hypertrophic and granulated tissue samples than in normal mucosa. In addition, the presence of biofilms was significantly higher in the middle ear mucosa compared with the mastoid and ossicle samples. Conclusion. In the clinic, the careful use of topical or systemic antimicrobials is essential, and, during surgery, hypertrophic tissue must be carefully removed from normal tissue

Evaluation of hearing with pure-tone audiometry in alopecia areata patients

WOS: 000463183800004Background and Design: We aimed to evaluate whether alopecia areata (AA) patients had hearing loss with pure-tone audiometry. Materials and Methods: In the study, 48 patients with AA and 39 healthy volunteers were induded. All the patients were examined by the otorhinolaryngologist and audiometric examinations were performed using a pure-tone audiometer. Pure-tone thresholds for both ears were evaluated at frequencies of 250-8000 Hz for air conduction. Results: Sensorineural hypoacusis was found in 18.8% of AA patients and 10.3% of control subjects. There was no statistically significant difference between the two groups (p=0.422). The pure-tone average for the right ear and the left ear in AA patients was 10.89 +/- 5.45 and 10.50 +/- 5.98, respectively. In control subjects, it was 10.25 +/- 3.43 for the right ear and 10.23 +/- 5.46 for the left ear. Pure-tone averages for both ears in AA patients were higher than controls; but the differences were not statistically significant (p=0.829 and p=0.526, respectively). When we compared hearing thresholds for both ear for frequencies, there were not any significant differences between AA patients and controls (p>0.05). Conclusion: There was no difference in terms of hearing loss between AA patients and healthy controls

International otology outcome group and the international consensus on the categorization of tympanomastoid surgery

The International Otology Outcome Group (IOOG) was founded in 2017 to encourage and facilitate international collaboration with regard to the surgical outcome of ear surgery. This report outlines the methodology and recommendations of the consensus-based categorization of tympanomastoid surgery produced by the IOOG. The IOOG Steering Committee used the acronym SAMEO-ATO to categorize tympanomastoid operations, representing the stage of surgery, approach, mastoid bone extirpation, external bony wall repair, obliteration of the mastoid cavity, access to the middle ear, tympanic membrane reconstruction, and ossicular reconstruction. A modified Delphi technique was used to obtain international consensus. The expert panels included the chairpersons from 21 otology societies. The approval rate of the SAMEO-ATO system from the otology societies was 95%. The SAMEO-ATO scheme was presented at the 31st Politizer Meeting for field testing. There were no objections or serious concerns raised. Some international otologists wished to see more surgical categories included to reflect the varieties of surgical techniques, but they accepted that it would make the whole system cumbersome. In addition to providing an international categorization of tympanomastoid surgery, the IOOG Steering Committee plans to introduce a common otology dataset that the international otology community could use to record their surgical outcome. The high level of international consensus on the IOOG categorization of tympanomastoid surgery supports this tool for surgeons to pool their surgical data into a large database for research and comparative audit