ABSTRACT
The purpose of this study was to evaluate the clinical and genetic findings of 53-year-old monozygotic twins who had bilateral otosclerosis and right-sided superior semicircular canal near dehiscence (SSCND). Monozygotic twins at the age of 53 presented with conductive hearing loss and normal tympanic membranes. Detailed audiovestibular testing and computed tomography scan revealed that both patients had concurrent otosclerosis and SSCND. Conservative management (hearing aids) was the treatment for these patients. Exome sequencing (ES) for the twins and their affected mother identified a heterozygous missense variant in the EYA4 (c.1744G>A; p.Glu582Lys) gene. This is the first case report to present these separate entities identified in monozygotic twins with a heterozygous missense variant in the EYA4 gene. Our ES data may imply a possible causal relationship or association between variants in the EYA4 gene and concurrent otosclerosis and SSCND.
ABSTRACT
Background and Objectives@#The aim of the study was to compare effects of tone-burst (TB) and narrow-band (NB) Claus Elberling (CE)-chirp stimuli on amplitude, latency and interaural asymmetry ratio (IAR) of cervical vestibular evoked myogenic potentials (cVEMP) in healthy individuals. @*Subjects and Methods@#The study included 50 healthy volunteers. cVEMP procedure was carried out using 500 Hz TB and NB-CE-chirp stimulus (360-720 Hz, up-chirp) in random order. cVEMP were recorded at 100 dB nHL. For each ear and each stimulus, P1 latency, N1 latency and P1N1 amplitude were measured. IAR was also calculated. @*Results@#Mean age was 26.66±9.48 years. cVEMP’s in response to both TB and NB CE-chirp stimuli were obtained in all subjects. No statistically significant difference in P1 latency, N1 latency, and P1N1 amplitude was found between the right and left ears for both TB and NB CE-chirp stimuli (p>0.05). In both sides, P1 and N1 latencies were significantly shorter in NB CE-chirp stimulation compared to TB stimulation (p=0.000). In both sides, no statistically significant difference was found in P1N1 amplitude between two types of stimuli (p>0.05). @*Conclusions@#The chirp stimulus produces robust but earlier cVEMP than TB does. This largest series study on NB chirp cVEMP shows that NB chirp is a good and new reliable alternative.
ABSTRACT
OBJECTIVE: The immunohistochemical staining characteristics of glutathione S-transferase (GST) alpha (GSTA), pi (GSTP), mu (GSTM4), and theta (GSTT1) and P53 were investigated in laryngeal squamous cell carcinoma (LSCC) cases and normal laryngeal tissue from 46 patients. The relationships between expression of the GST isoenzymes and some clinicopathologic features were also examined. PATIENTS AND METHODS: For immunohistochemical studies, tissues from 46 patients with LSCC at the Dr. Lütfi Kirdar Kartal Education and Research Hospital were used. The relationship between expression of the GST isoenzymes and P53 in normal and tumour tissue was analyzed using the Wilcoxon signed rank test. The correlation between GST isoenzymes and P53 and clinicopathologic data was also examined using the Spearman rank test. RESULTS: When the normal and tumour tissues of these cases were compared according to their staining intensity and percentage of positive staining, GSTA expression in normal cells was significantly higher than in tumour cells, and GSTP and P53 expression was higher in tumour cells (p < .05). GSTM and GSTT1 expression was higher in normal cells; however, the statistical significance was low (p > .05). There was no correlation between P53 and GST expression in patients with LSCC. When the immunohistochemical results of GST isoenzymes and P53 were correlated with the clinical parameters, GSTA expression was increased in poorly differentiated laryngeal tumour, but GSTM4 and GSTT1 expression was decreased (p < .05). CONCLUSION: According to these results, GST-A, -P, and T1 and P53 were important in the diagnosis of LSCC.
