Post-lingual non-syndromic hearing loss phenotype: a polygenic case with 2 biallelic mutations in MYO15A and MITF.

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 reported a polygenic mode of inheritance in an NSHL consanguineous family using exome sequencing technology and we evaluated the possible effect of the detected single nucleotide variants (SNVs) 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 MITF p. Pro338Leu missense mutation was predicted to change the protein structure and function. CONCLUSION: A novel MITF mutation along with a previously described MYO15A mutation segregate with an autosomal recessive non-syndromic HL case with a post-lingual onset. The findings highlight the importance of carrying whole exome sequencing for a comprehensive assessment of HL genetic heterogeneity.

Hyaluronic acid in otology: Its uses, advantages and drawbacks - A review.

OBJECTIVES: Review of the literature for studies involving the use of hyaluronic acid (HA) in otology. METHODS: Pubmed and OvidMedline were searched using a combination of the following words in different variations: hyaluronic acid, hyaluronate, otolaryngology, otology, ear, tympanic membrane, perforation, tympanostomy, tympanoplasty, myringoplasty, packing, middle ear, cochlea, gene delivery, gene therapy, cochlear implant, hearing loss, meniere, vertigo, otitis and cholesteatoma. RESULTS: The papers relevant for this review were triaged based on abstracts and titles and were then categorized based on topic/disease entity/procedure. The papers were read and summarized in order to use their findings in this review. CONCLUSIONS: HA is being recently used as adjuvant therapy for multiple inflammatory conditions and in tissue repair. These immunomodulatory properties and biocompatibility have interested researchers specially in the field of otology for repair, gene delivery, immunomodulation etc. Recent data in the field show optimistic results for the use of HA in several conditions especially tympanic membrane perforations and gene delivery. It also establishes the role of HA as ancillary treatment in many other otologic pathologies. This review presents the most recent findings on the use of HA in otology. The results could be used to guide clinical practice and incite further research based on the presented results of the literature.

Proteomics studies in inner ear disorders: pathophysiology and biomarkers.

Although proteomics has been exploited in a wide range of diseases for identification of biomarkers and pathophysiological mechanisms, there are still biomedical disciplines such as otology where proteomics platforms are underused due to technical challenges and/or complex features of the disease. Thus, in the past few years, healthcare and scientific agencies have advocated the development and adoption of proteomic technologies in otological research. However, few studies have been conducted and limited literature is available in this area. Here, we present the state of the art of proteomics in otology, discussing the substantial evidence from recent experimental models and clinical studies in inner-ear conditions. We also delineate a series of critical issues including minute size of the inner ear, delicacy and poor accessibility of tissue that researchers face while undertaking otology proteomics research. Furthermore, we provide perspective to enhance the impact and lead to the clinical implementation of these proteomics-based strategies.

Aspergillus mastoiditis in an immunocompetent patient: a case report and review of the literature.

Aspergillus mastoiditis usually occurs in immunocompromised patients. There are a few isolated reports in the literature involving immunocompetent patients. We hereby describe the case of an immunocompetent patient diagnosed with invasive Aspergillus mastoiditis, which was treated successfully, and review the literature pertaining to this condition. The common clinical presentations, putative pathophysiology, and recommended therapy are discussed.

Flight After Stapes Surgery: An Evidence-Based Recommendation.

Objective: Recommendations for air travel after stapes surgery, specifically stapes surgery, vary, with no standard recommendation to guide patients and surgeons. According to our search, no previous article has explored the physics of middle ear changes during flight and its effects on poststapedectomy patients in a systematic way. The aim of this study is to bring together 2 arms of expertise, otology, and aviation, to produce an evidence-based recommendation for flight after stapes surgery. Data Sources: The database MEDLINE was searched during August 2022. The search strategy had the goal of identifying studies that discovered the effects of flying on stapes surgery patients and the effects of atmospheric pressure on middle ear structures. Review Methods: The articles yielded from the search strategy were transferred to the online citation manager Rayyan. Included in the review were those studies reporting patient outcomes after flying following ear surgery; additional studies included those reporting pressure changes in the middle ear and ossicular chain displacement whether in experimental or animal conditions. Conclusion: Modern-day commercial air travel is safe for patients who have undergone stapedotomy surgery, even very shortly after hospital discharge if they have to. Implications for Practice: If stapedotomy patients wish to fly after hospital discharge, otologists are to reassure them that it is safe to do so. Patients are to be reminded to perform a gentle Valsava maneuver about every 4 minutes during airplane descent.

The Effect of Monaurally Fitted Hearing Aid Use on the Evolution of Presbycusis.

OBJECTIVE: The effect of hearing aid use on the evolution of presbycusis has not been well described in the literature, with only a handful of publications addressing this topic. This paper aims to evaluate the long-term use of amplification and its effect on pure-tone thresholds and word recognition scores. METHOD: Monaurally fitted patients were followed with serial audiograms. Data was collected from hearing aid centers. Seventy-seven patients with presbycusis met the inclusion criteria and participated in the present study. The progression of hearing loss in both pure tone thresholds and word recognition scores were compared between the hearing aid ears (HA), and the non-hearing aid ears (NHA). Pure tone thresholds were analyzed by comparing the pure tone average at the initial and last audiograms. Word Recognition Scores (WRS) were analyzed using the model of Thornton and Raffin (1978), and by comparing the change in the absolute values of WRS from the initial to the last audiogram between the HA ear and the NHA ear. RESULTS: No significant difference in pure-tone thresholds between the HA ear and NHA ear was found at the last audiogram (P = .696), even after dividing the patients into groups based on the duration of amplification. Both methods of analysis of patients' WRS showed a statistically significant worsening in NHA (P < .05). CONCLUSION: The present study supports the previously defined auditory deprivation effect on non-fitted ears, which showed worsening of word recognition over time and no effect on pure tone average. It provides an additional argument for the counseling of patients with presbycusis considering amplification, and highlights the importance of bilateral amplification in preserving the residual hearing of hearing impaired patients.

Loop underlay tympanoplasty for anterior, subtotal and total tympanic membrane perforations: a retrospective review.

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.

Parental perceptions and morbidity: tracheostomy and Pierre Robin sequence.

OBJECTIVE: Evaluate parental perceptions associated with tracheostomy morbidity and quality of life in the management of Pierre Robin Sequence (PRS). STUDY DESIGN: Retrospective review/survey. METHODS: 42 Pierre Robin patients were identified, records were reviewed and airway assessments evaluated relative to airway compromise. Twenty patients had undergone tracheostomy. Perceptions of quality of life/morbidity related to tracheostomy were assessed using parental surveys. RESULTS: 31/41 (76%) patients participated in the survey. 15/31 (48%) of survey participants required tracheostomy and were decannulated after a mean of 28 months. Of the patients who had undergone tracheostomy, 10/15 (67%) had isolated Pierre Robin (iPRS) and the remaining 5/15 (33%) had syndromes associated with Pierre-Robin (sPRS). 9/10 (90%) iPRS and 4/5 (80%) sPRS families' expectations were met regarding expected duration of tracheostomy although 3/5 (60%) sPRS, and 8/10 (80%) iPRS described the overall experience as difficult. Of the 2/15 patient's families who were dissatisfied 1 patient had iPRS and the other sPRS. 9/15 (60%) required multiple > or = 3) hospitalizations. 3/13 (23%) reported airway problems after decannulation and 2/15 (13%) remained tracheostomy dependent at the time of survey. Prolonged tracheostomy duration represented a significant parental concern. CONCLUSIONS: A subset of patients required extended duration of tracheostomy; some continued to have airway problems after decannulation and/or distraction. Although some patients benefit from early mandibular distraction other Pierre Robin patients have multi-level obstruction requiring additional therapies and often tracheostomy. Parental concerns and perceptions relative to tracheostomy have not been adequately studied for Pierre Robin airway obstruction. Of those responding to this survey, the majority of parents' expectations were met regarding tracheostomy. Of those whose expectations were not met, it seems that better pre-intervention counseling regarding length of tracheostomy tube dependence, as well as a discussion about potential complications and hospitalizations frequently associated with prolonged tracheostomy, may lead to improved parental expectations.

The OTOGL p.Arg925* Variant is Associated with Moderate Hearing Loss in a Syrian Nonconsanguineous Family.

AIM: To screen for the genetic basis of congenital hearing loss in a Syrian family. METHODS: 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. RESULTS: 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. DISCUSSION: 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.

Adaptation of the Arabic Version of the Tinnitus Handicap Inventory.

OBJECTIVE: 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. STUDY DESIGN: Clinical measurement study. SETTING: Tertiary care center. SUBJECTS AND METHODS: 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: 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. CONCLUSION: 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.

MED-EL Combi40+ cochlear implantation in adults.

OBJECTIVE/HYPOTHESIS: Cochlear implantation is currently the treatment of choice for severe to profound sensorineural hearing loss. The MED-EL Combi40+ (Innsbruck, Austria) cochlear implant system was approved for use in the United States in 2001. This device employs a 31-mm-long electrode array, ceramic case, and continuous interleaved sampling with Hilbert transformation for envelope extraction. A single institution's experience with the Combi40+ implant in adult patients was reviewed. STUDY DESIGN: Retrospective chart review. METHODS: Medical-surgical and audiological data were collected from 112 patients who received a MED-EL Combi40+ cochlear implant between December 1998 and April 2004. RESULTS: The rate of surgical complications and speech perception testing results compared favorably with those of other cochlear implant systems. For postlingually deafened adults, mean CNC word, HINTQ, CUNY, and HINT + 10 dB signal-to-noise ratio scores after 1 year of implant usage were 54%, 87%, 96%, and 64%, respectively. Prelingually deafened adults also derived significant benefit, but plateau performance for these patients was well below that for patients with later onset of deafness and significant variability was seen in this group. Repeat implantation for suspected device malfunction was undertaken in seven cases (6% of devices) (mean duration of use, 28 +/- 12 mo) with ultimate resolution of the presenting problem. CONCLUSION: The study results support the safety and efficacy of cochlear implantation with the MED-EL Combi40+ cochlear implant system.

Radiation dose to the eyes and parotids during CT of the sinuses.

OBJECTIVE: To measure the radiation dose to the lens and parotid during high-resolution computed tomography scan of the sinuses. STUDY DESIGN AND SETTING: Nine cadaver heads were scanned in the axial plane by means of a fine-cut (0.75 mm) protocol. Images were then reconstructed in the coronal and sagittal planes for use with the image guidance software. Thermoluminescent dosimeters were taped over the eyes and parotids and used to measure the radiation dose absorbed by these organs. RESULTS: Doses obtained were 29.5 mGy for the lens and around 30 mGy for the parotid. CONCLUSION: The measured doses are lower than the reported acute thresholds of 500-2000 mGy for lens opacities and well below the threshold of 2500 mGy for damage to the parotid. SIGNIFICANCE: These results demonstrate minimal risk from radiation through the use of high-resolution computed tomography and support the use of such a protocol for diagnosis and preoperative planning.

Tympanostomy tube obstruction related to ototopical drug therapy.

Obstruction of tympanostomy tubes is a potentially significant complication, sometimes requiring replacement of the nonfunctioning tube. Early blockage can occur secondary to bleeding during the tube placement procedure. Delayed obstruction is usually caused by inspissated secretions or epithelial casts. We briefly report our treatment of 9 cases of delayed ventilation tube obstruction that were associated with the use of an ototopical antibiotic/steroid suspension.

Rapid adaptation of the 2f1-f2 DPOAE in humans: binaural and contralateral stimulation effects.

The present data were collected in humans to characterize the effects of monaural and binaural stimulation and contralateral noise on the 2f1-f2 distortion-product otoacoustic emission (DPOAE) adaptation response. DPOAE levels (f2/f1=1.21, L1=70 dB SPL, L2=65 dB SPL) were measured in both ears for a range of f2 frequencies (1.2 to 10.0 kHz). The f2 frequency producing the largest amplitude DPOAE was used for further testing employing three different stimulus conditions: the primary tones were presented to only one ear for 4 s; the two tones were presented simultaneously in both ears; and, contralateral broadband noise (60 dB SPL) was presented for 5 s, beginning 4 s after the onset of the monaural primaries in the test ear. Acoustic reflex thresholds were measured to verify that the middle-ear muscles played no systematic role in the measured DPOAE reductions. Estimates of monaural rapid adaptation levels and time constants agreed well with previous human findings. The magnitude of the rapid adaptation under binaural stimulation, as compared with monaural primaries, was 25% greater on average, though adaptation time constants were comparable. With added contralateral noise, the average DPOAE suppression was 1.1 dB (0.3-2.7 dB). The magnitude of the monaural adaptation and the effects of binaural and contralateral stimulation, however, were smaller than those measured previously in experimental animals, though the time constants were in good agreement.

Anatomic relationship between the facial nerve and the tympanic annulus.

OBJECTIVE: To identify the relationship between the vertical portion of the facial nerve and the tympanic annulus, using computed tomographic (CT) scans of healthy adult and pediatric patients. STUDY DESIGN: A retrospective review of CT scans. SETTING: The study was conducted in a tertiary referral medical center. PATIENTS: After excluding ears with noted pathology, a total of 241 ears were included in the final review (121 right and 120 left ears). The mean age of the patients was 33.3 years (2 mo to 87 yr). INTERVENTION(S): Both structures were identified at three distinct locations: the superior and the inferior most margins of the tympanic ring and at the umbo. Measurements were made in both anteroposterior and a mediolateral planes. Comparisons between different age groups were made to analyze the relative change in position that happens with age. RESULTS: The vertical portion of the facial nerve, as it proceeds distally, takes a more anterior and lateral course, and crosses the plane of the annulus almost consistently in the inferior third. The average distance at each location is reported. Statistically significant differences were found between age groups, in the areas around the second genu and the distal most segment of the facial nerve. CONCLUSIONS: This is the largest anatomic study to date analyzing the relationship of the facial nerve to the tympanic annulus. It also allows comparison between age groups, demonstrating a significant difference between adult and pediatric groups, especially in the distal portion of the fallopian canal.