Genome sequencing identifies coding and non-coding variants for non-syndromic hearing loss.

Hearing loss (HL) is a common heterogeneous trait that involves variants in more than 200 genes. In this study, we utilized exome (ES) and genome sequencing (GS) to effectively identify the genetic cause of presumably non-syndromic HL in 322 families from South and West Asia and Latin America. Biallelic GJB2 variants were identified in 58 probands at the time of enrollment these probands were excluded. In addition, upon review of phenotypic findings, 38/322 probands were excluded based on syndromic findings at the time of ascertainment and no further evaluation was performed on those samples. We performed ES as a primary diagnostic tool on one or two affected individuals from 212/226 families. Via ES we detected a total of 78 variants in 30 genes and showed their co-segregation with HL in 71 affected families. Most of the variants were frameshift or missense and affected individuals were either homozygous or compound heterozygous in their respective families. We employed GS as a primary test on a subset of 14 families and a secondary tool on 22 families which were unsolved by ES. Although the cumulative detection rate of causal variants by ES and GS is 40% (89/226), GS alone has led to a molecular diagnosis in 7 of 14 families as the primary tool and 5 of 22 families as the secondary test. GS successfully identified variants present in deep intronic or complex regions not detectable by ES.

Gradenigo Syndrome Induced by Suppurative Otitis Media.

Gradenigo syndrome was defined as a clinical triad of otitis media, severe orbito-facial pain, and ipsilateral sixth cranial nerve palsy. It may occur as a complication of either acute or chronic otitis media. Herein, we will report a case of Gradenigo syndrome induced by suppurative chronic otitis media that was promptly diagnosed and aggressively treated.

A honey bee can threat ear: Sudden sensorineural hearing loss.

Sudden sensorineural hearing loss is an otologic emergency. Many etiological factors can lead to this pathology. Honey bee (Apis mellifera) sting may lead to local and systemic reactions due to sensitization of the patient. In this paper we described a sudden sensorineural hearing loss occurred after honey bee sting.

The Relationship Between Hearing Thresholds and Hyperandrogenism in Polycystic Ovary Syndrome.

BACKGROUND The purpose of our study was to investigate the association between polycystic ovary syndrome (PCOS) and hearing thresholds. MATERIAL AND METHODS Forty women diagnosed with PCOS (mean age, 24.33±6.38 years) and 40 healthy women controls (mean age, 26.38±6.75 years) were included in prospective study. Each case was tested with low (250, 500, 1000, and 2000 Hz), high (4000, 6000, and 8000 Hz) and extended high (EH) (9000-20000 Hz) frequency audiometry. The fasting plasma glucose, insulin, FSH, LH, total testosterone, and sex hormone-binding globulin were measured in all patients. RESULTS The mean hearing thresholds at EH frequencies were statistically significantly higher in the PCOS group than in the control group (p=0.001 right ear and p=0.015 left ear). There were significant positive correlations among free testosterone index (FTI) values and hirsutism scores with EH frequency hearing thresholds. CONCLUSIONS At pure-tone audiometry (PTA) EH frequencies, we detected significantly higher hearing thresholds in PCOS patients than in controls. We also determined that elevated FTI and hirsutism score were positively correlated with elevated hearing thresholds in EH frequencies. These findings support that hyperandrogenism can play a role in the elevation of hearing thresholds in PCOS.

Mean platelet volume, red cell distribution width, platelet-to-lymphocyte and neutrophil-to-lymphocyte ratios in patients with ankylosing spondylitis and their relationships with high-frequency hearing thresholds.

The mean platelet volume (MPV), red cell distribution width (RDW) and neutrophil-to-lymphocyte ratio (NLR) comprise laboratory markers in ankylosing spondylitis (AS). There is a controversy in the literature regarding which type of ear involvement is characteristic of AS. The aim of this study was to simultaneously investigate the MPV, RDW, platelet to lymphocyte (PLR) and NLR in patients with AS and their relationships with high-frequency hearing thresholds. Thirty patients with AS and 35 age-matched healthy subjects were included. Each subject was tested with low- (250, 500, 1000 and 2000 Hz) and high- (4000, 8000, 10,000, 12,000, 14,000 and 16,000 Hz) frequency audiometry. Additionally, the case and control groups were evaluated regarding the average hearing thresholds in bone conduction. The erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP) levels were measured. The RDW, MPV, neutrophils, lymphocytes and platelet counts were evaluated with the complete blood count. Furthermore, the NLR and PLR were calculated. The complete blood count, platelet numbers, ESR, CRP and NLR levels were significantly increased in the AS patients compared with the healthy controls (p < 0.001, p = 0.007, p < 0.001, p < 0.001 and p = 0.047, respectively). There was no statistically significant difference in the RDW, PLR or MPV levels (p > 0.05) in the AS patients compared with the healthy controls. The BASDAI score and disease duration were not correlated with the ESR, CRP levels, MPV, PLR, RDW or NLR in patients with AS (all; p > 0.05). The AS patients had increased average measurement values for the hearing threshold in both ears at frequencies of 250, 500, 1000 and 2000 Hz; however, there was no statistically significant difference (p > 0.05). The average values of the hearing threshold in both ears at the high frequencies of 4000, 6000, 8000, 10,000, 12,000 and 14,000 Hz were significantly increased in the case group; however, it was not significantly increased at 16,000 Hz. The current study is the first to investigate the PLR, NLR, MPV and RDW levels in acute AS. We identified a significantly increased NLR, leukocyte count, ESR and CRP in AS patients. Sensorineural hearing loss, especially at extended high frequencies, is common in patients with AS and may represent an extra-articular feature of the disease. The combined use of NLR with the leukocyte count and other clinical assessments may facilitate the diagnostic process of ankylosing spondylitis.