The genetics of both syndromic (SHL) and non-syndromic hearing loss (NSHL) is characterized by a high degree of genetic heterogeneity. We analyzed whole exome sequencing data of 102 unrelated probands with apparently NSHL without a causative variant in known NSHL genes. We detected five causative variants in different SHL genes (SOX10, MITF, PTPN11, CHD7, and KMT2D) in five (4.9%) probands. Clinical re-evaluation of these probands shows that some of them have subtle syndromic findings, while none of them meets clinical criteria for the diagnosis of the associated syndrome (Waardenburg (SOX10 and MITF), Kallmann (CHD7 and SOX10), Noonan/LEOPARD (PTPN11), CHARGE (CHD7), or Kabuki (KMT2D). This study demonstrates that individuals who are evaluated for NSHL can have pathogenic variants in SHL genes that are not usually considered for etiologic studies.

The adequacy of anesthesia and comfort during surgery was assessed for 100 consecutive patients undergoing middle ear surgery using local anesthesia, both by the patients themselves and by the surgeon. The possibility of inducing an iatrogenic facial weakness was also evaluated. Both the surgeon and the majority of patients were pleased with the quality of anesthesia and little adverse effects occurred as a consequence of local anesthesia itself.

Surgery for cochlear implantation (CI) bears the risks of complication associated with all major surgery, in addition to the particular risks associated with implanting a foreign body into the peripheral auditory system. Here we present a retrospective study involving 227 cochlear implant operations in 205 children to evaluate the rate of intra- and post-operative complications. Complications were defined as major complications, requiring explantation of the device or further operation, causing a significant medical problem, or leading to any degree of facial paralysis or requiring additional hospitalization for treatment; or defined as minor complications, namely those that settled spontaneously, with conservative treatment, with local care and/or with medication alone. In our study there were 15 (6.6 per cent) minor and 28 (12.33 per cent) major complications. The most frequent minor complication was dizziness and vomiting (3.08 per cent), followed by transient hemifacial oedema (1.76 per cent), head pain (1.32 per cent) and mild ataxia (0.4 per cent). The most frequent major complication was trauma to the device (9.69 per cent), followed by cerebrospinal fluid (CSF) gusher (2.2 per cent) and facial paresis (0.4 per cent). All of the device trauma cases were re-implanted. There were neither any life-threatening complications nor any facial nerve paralysis in our implanted children. This study confirms that CI is relatively safe and that major complications are few and within acceptable limits.

Chronic otitis media (COM) patients who had a multichannel device implanted were evaluated regarding surgical problems and technical modifications. In a multicentric study, implantees whose aetiology was COM were retrospectively evaluated. Patients were operated on and evaluated at three different tertiary referral centres: SSK Izmir Hospital Cochlear Implantation (CI) Center (32 cases), Istanbul Marmara University ENT Clinic (six cases), Eskişehir Anadolu University CI Center (one case). Thirty-nine implantees were evaluated with respect to surgical problems, technical modifications, complications and hearing results. All patients had lost their hearings as a result of COM. Three out of 39 cases were children. Thirty-seven of the patients either had a radical cavity or ear converted to radical at the first stage or concomittantly with the implantation. Patients were evaluated in order to find out the best possible surgical solutions to specific problems caused by COM. In seven cases electrode array disrupted the epithelial lining of the cavity despite specific measures. Five of those cases were re-implanted, passing the electrode array through a tunnel under the facial nerve. Seven recent cases were also implanted with the same subfacial route. In all patients but one, satisfactory hearing results were achieved one to five years after implantation (SDS scores with monosyllabic word list were between 59 and 89 per cent, median 67.4 per cent). CI in COM patients necessitates technical modifications. In radical cavities subfacial implantation seems to be a good solution for the protection of the electrode array.

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