Diabetes-related hearing loss (DRHL) is a complication of diabetes mellitus that is drawing more attention currently. DNA methylation has a critical role in the pathogenesis of type 2 diabetes mellitus (T2DM) and its complications. Therefore, we investigated the genome-wide DNA methylation of peripheral blood of T2DM patients with/without hearing loss in order to explore the susceptibility loci of DRHL. Between DRHL group and control group, 113 gene sites were identified to be differentially methylated regions (DMRs). Among 38 DMRs with whole samples, the classification accuracy is up to 90%. With alignment to T2DM susceptibility genes and deafness genes published, KCNJ11 was found to be the only overlapped gene. The DNA methylation level of KCNJ11 was associated with stroke (t = 2.595, p < 0.05), but not with diabetic nephropathy and diabetic retinopathy. The detective rate of distortion product otoacoustic emissions (DPOAE) from low to high frequencies (0.7-6 kHz) on the right ear was significantly correlated with the methylation level of KCNJ11. The auditory brainstem response (ABR) threshold on the right ear was also correlated (r = 0.678, p < 0.05). This DNA methylation profile indicates the susceptibility loci of DRHL. The potassium metabolism may have a critical role in the hearing loss caused by hyperglycemia.
Congenital microtia-atresia (CMA) is an ear malformation evident at birth with a global incidence of 0.88-12/10000 individuals. 1 Manifestations include auricle deformity, external auditory canal (EAC) stenosis or atresia, middle ear abnormal and 80%-90% with moderate-to-severe conductive hearing loss. 2 Treatment includes auricle reconstruction and hearing rehabilitation, including traditional surgery (external auditory meatoplasty and tympanoplasty), and artificial auditory implantation, including vibrant sound bridge (VSB) 3 and Bonebridge (BB) implantation. 4 The diversity and complexity of CMA make performing these procedures difficult. A preoperative evaluation can help avoid misdiagnosis and identify the most suitable treatment.Interestingly, some patients had either normal or slightly deformed auricles with small orifices in the cavum conchae that looked like narrow EACs. Besides, the conductive hearing loss was mild, and the anterior and inferior walls of the EACs were absent and occupied by soft tissue on temporal bone high-resolution computed tomography (HRCT). These manifestations led some otologists to suspect an external auditory canal stenosis (EACS) with cholesteatoma, but the final diagnosis was actually congenital aural atresia (CAA) with temporomandibular joint (TMJ) retroposition. We could not perform traditional surgery for these patients because of the retroposed TMJ.This study aimed to analyse the clinical data of six patients with CAA and TMJ retroposition misdiagnosed as EACS with cholesteatoma, summarise their characteristics, lay a foundation for further research on this condition and generate useful insights for clinical practice.
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