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Background It is generally accepted that headshake nystagmus (HSN) is generated from an asymmetrical peripheral vestibular input and a correlation exists between HSN and canal paresis. There have been limited reports, however, how HSN correlates with the more recently introduced tests of vestibular function. Aims/objectives To evaluate the correlation between HSN and unilateral weakness on caloric testing, high-frequency vestibulo-ocular reflex (VOR) function on video head impulse testing (VHIT) and otolith function determined by vestibular evoked myogenic potentials (VEMPs). Methods A retrospective study of all patients who underwent complete vestibular function testing at our tertiary referral center from 2016 to 2019 was performed. Demographic data, clinical diagnosis (where available), the results of video-nystagmography, vHIT, and VEMPs were evaluated. Results Of the 1499 patients in the study period, 101 (6.7%) had HSN. Vestibular test abnormalities were more common in patients with HSN. The sensitivity of HSN for underlying pathology was low in comparison with vestibular testing. However, HSN demonstrated a high specificity. Conclusions and significance HSN generation is likely more complex than caloric-induced nystagmus, probably due to additional variables within the vestibular system. HSN may provide clinicians with additional information concerning high-frequency VOR function involving lateral semicircular and otolith dysfunction.

To screen for the genetic basis of congenital hearing loss in a Syrian family.A Syrian patient living in Lebanon presented with moderate congenital hearing loss. The patient's large nonconsanguineous family was recruited. DNA was extracted from blood samples and sent for whole-exome sequencing. A detailed clinical examination along with audiograms was obtained for all subjects.Hearing loss was noted to be mild to moderate in the low and mid frequencies, sloping to moderate to severe in the high frequencies for all affected members. Results of DNA analysis showed the presence of a previously described p.Arg925* mutation in the OTOGL gene on both alleles in affected family members, whereas nonaffected members either had the wild type or one copy of the mutated allele.Mutations affecting the OTOGL gene have been recently connected with nonsyndromic sensorineural hearing loss. Seven such mutations have already been described. The p.Arg925* reported in this study has been found once in a French family. The current report is the first to describe this mutation in a Middle Eastern family.

Background Hearing loss (HL) represents the most common congenital sensory impairment with an incidence of 1-5 per 1000 live births. Non-syndromic hearing loss (NSHL) is an isolated finding that is not part of any other disorder accounting for 70% of all genetic hearing loss cases. Methods In the current study, we report a multifactorial genetic mode of inheritance in a NSHL consanguineous family using exome sequencing technology. We evaluated the possible effects of the single nucleotide variants (SNVs) detected in our patients using in silico methods. Results Two bi-allelic SNVs were detected in the affected patients; a MYO15A (. p.V485A) variant, and a novel MITF (p.P338L) variant. Along with these homozygous mutations, we detected two heterozygous variants in well described hearing loss genes (MYO7A and MYH14). The novel p. Pro338Leu missense mutation on the MITF protein was predicted to change the protein structure and function. Conclusion The novel MITF variant is the first bi-allelic SNV in this gene to be associated with an autosomal recessive non-syndromic HL case with a post-lingual onset. Our findings highlight the importance of whole exome sequencing for a comprehensive assessment of the genetic heterogeneity of HL.

Background The study aims at reporting our experience with loop underlay tympanoplasty, a modification of the underlay technique previously reported, for the reconstruction of anterior, subtotal or total tympanic membrane perforations. Methods A retrospective review of charts of patients who have undergone loop underlay tympanoplasty from January 2002 to January 2012 was performed. One thousand one hundred patients were included. Hearing test results preoperatively and postoperatively were reported. On follow up visits, the closure of the tympanic membrane perforation and the improvement of hearing compared to preoperative measurements with absence of complications were considered as successful outcomes of the surgery. Results At the three-month follow-up visit, the perforation closure rate was found to be 99.3% and Air-Bone Gap closure rate to less than 10 dB was 99.5%. The complication rate, including post-operative infection, was 0.72%. Conclusion The loop underlay technique combines advantages of both underlay and overlay techniques with excellent postoperative outcomes.

Resume Introduction Le pneumolabyrinthe est defini comme la presence d’air dans l’oreille interne entrainant des signes et des symptomes cochleo-vestibulaires. Vingt-sept cas de pneumolabyrinthe sont publies dans la litterature dont deux seulement ont ete decrits comme des pneumolabyrinthes tardifs constituant une complication d’une chirurgie de l’etrier. Cas clinique Un homme de 45 ans s’est presente avec des vertiges suite a une manœuvre de Valsalva, 12 ans apres une stapedectomie. Un scanner haute resolution a revele un pneumolabyrinthe et une tympanotomie exploratrice avec reconstruction chirurgicale a ete pratiquee. Discussion Le pneumolabyrinthe tardif est une complication rare de la chirurgie de l’etrier et doit etre evoque chez les patients presentant des symptomes cochleo-vestibulaires, meme de nombreuses annees apres. Une tympanotomie exploratrice est recommandee chez les patients avec un diagnostic de pneumolabyrinthe et une surdite de perception et/ou des vertiges persistants.

Introduction Pneumolabyrinth is defined as the presence of air within the inner ear causing cochleovestibular signs and symptoms. Twenty-seven cases of pneumolabyrinth are published in the literature of which only two were described as delayed pneumolabyrinth as a complication of stapes surgery. Case report A 45-year-old male patient presented with vertigo after Valsalva maneuver 12 years after stapedectomy. He was diagnosed with delayed pneumolabyrinth on high resolution computed tomography and underwent an exploratory tympanotomy with surgical repair. Discussion Delayed pneumolabyrinth is a rare complication of stapes surgery and should be considered in patients presenting with vestibulocochlear symptoms even many years later. An exploratory tympanotomy is recommended for patients diagnosed with pneumolabyrinth and having a sensorineural hearing loss and/or persistent vertigo.

To translate the Tinnitus Handicap Inventory (THI) into literary Arabic to come up with a unified Arabic version and to determine its validity and reliability in assessing the quality of life of Arabic-speaking patients with tinnitus.Clinical measurement study.Tertiary care center.The original English THI was translated into literary Arabic by a forward- and back-translation process according to the published guidelines for cross-cultural adaptation of health-related quality-of-life measures and applied to 100 patients with chronic tinnitus. Internal consistency reliability was then assessed by calculating Cronbach's alpha coefficient. Pearson correlation coefficients were also calculated for the different scales and the different baseline characteristics.Results showed high internal consistency and reliability coefficients (total THI: 0.93, functional subscale: 0.86, emotional subscale: 0.86, catastrophic subscale: 0.66) comparable to those of the original English THI.The Arabic version of the THI is a valid and reliable tool for the assessment of the impact of tinnitus on the quality of life of Arabic-speaking patients with the complaint of chronic tinnitus.