Genetic Heterogeneity in GJB2, COL4A3, ATP6V1B1 and EDNRB Variants Detected Among Hearing Impaired Families in Morocco

Deafness has a very variable disease. It may occur as a result of external auditory canal involvement or a deficiency in the sound conduction mechanism (transmission deafness) or impairment of the cochlear, cochlear nerve or central auditory perception. Genetics is the most common cause, as approximately 70% of hearing disorders are of hereditary origin. 1/3 of hereditary deafness is syndromic (associated with other symptoms) and 2/3 are non-syndromic (isolated deafness). At this date, 173 loci of deafness gene have been reported in the literature (69 DFNA, 94 DFNB, 6 X-linked DFN, 2 DFNM, 1 DFNY and 1 AUNA1). For syndromic deafness, approximately 400 syndromes associated with hearing disorders are already described. Thus, the determination of causal mutations is a valuable aid for accurate and early diagnosis. This makes it possible to better guide the management since forms of deafness respond better to the cochlear implant than others. The correct diagnosis also gives an idea of ​​the evolutionary profile of deafness and whether it is a syndromic deafness requiring special surveillance. In this study, we have examined the genetic causes of sensorineural hearing loss in Moroccan patients through whole exome sequencing (WES) to identify candidate genes for six severely deaf Moroccan families. The results revealed four genetic variants in the genes GJB2, COL4A3, ATP6V1B1 and EDNRB, which are therefore common causes of syndromic and non-syndromic deafness.

Voice In Ear

With the rapid growth of wearable computing and increasing demand for mobile authentication scenarios, voiceprint-based authentication has become one of the prevalent technologies and has already presented tremendous potentials to the public. However, it is vulnerable to voice spoofing attacks (e.g., replay attacks and synthetic voice attacks). To address this threat, we propose a new biometric authentication approach, named EarPrint, which aims to extend voiceprint and build a hidden and secure user authentication scheme on earphones. EarPrint builds on the speaking-induced body sound transmission from the throat to the ear canal, i.e., different users will have different body sound conduction patterns on both sides of ears. As the first exploratory study, extensive experiments on 23 subjects show the EarPrint is robust against ambient noises and body motions. EarPrint achieves an Equal Error Rate (EER) of 3.64% with 75 seconds enrollment data. We also evaluate the resilience of EarPrint against replay attacks. A major contribution of EarPrint is that it leverages two-level uniqueness, including the body sound conduction from the throat to the ear canal and the body asymmetry between the left and the right ears, taking advantage of earphones' paring form-factor. Compared with other mobile and wearable biometric modalities, EarPrint is a low-cost, accurate, and secure authentication solution for earphone users.

Treatment choice for repair of sound-conducting apparatus with isolated ossicular anomalies

Over the last decades, attention to the study of the possibilities of pediatric otorhinolaryngology has increased. The constantly evolving technologies in reconstructive surgery and advances in the field of anesthetic management have made it possible to carry out the necessary surgical interventions at the earliest possible time. Even such traditionally complex areas like treatment of isolated middle ear abnormalities receive more and more opportunities for successful development. In order to achieve maximal results of hearing in isolated ossicular abnormalities, various approaches to their reconstruction are used. In our work, we aimed to find out which of the two most topical technical solutions is optimal in terms of functional results’ achievement. To do this, we analyzed two independent groups of patients in whom different approaches to the repair of the sound conduction was applied. On the basis of the study, it can be argued that attempts to preserve a deformed, but movable chain of the auditory ossicles, that is, performing type 1 tympanoplasty with an intact stapes with anomalies in the development of auditory ossicles did not prove their feasibility. Performing surgery using a simpler technique, namely with the removal of deformed ossicles and the use of partial titanium prostheses, allows you to achieve the best anatomical and functional results.

OUTCOME OF TYPE 1 TYMPANOPLASTY WITH CARTILAGE-PERICHONDRIUM GRAFT IN COMPARISON WITH TEMPORALIS FASCIA

Objective: To compared the outcome of Type 1 tympanoplasty with cartilage-perichondrium graft in comparison with temporalis fascia graft in terms of post-operative graft take-up and hearing results. Materials and Methods: A prospective observational study among 80 patients between 15 and 60 years of age satisfying the inclusion criteria with complaints of ear discharge and hearing loss due to COM - mucosal type was conducted. Patients were grouped in two groups of 40 patients each. Group A patients underwent Type 1 tympanoplasty with temporalis fascia and Group B with cartilage-perichondrium graft. Patients were followed up for graft uptake, hearing improvement and rate of failure are compared for both the grafts. Graft uptake was assessed at the end of the 1st month, 3rd month, and 6th month, and hearing was assessed at the end of the 6th month with pure tone audiometry. Results: Patients with temporalis fascia graft showed a take-up rate of 80% and cartilage-perichondrium graft of 92.5% by 6 months. Among the fascia group, graft failure was seen in 20% (8). One patient had failed take-up of graft and four patients showed reperforation. In cartilage group, three patients showed failure of take-up of graft during the 1st month. No patient had reperforation or retraction. Air-bone gap in fascia group showed a closure to 10 dB in 17.5% (7). In the cartilage group, 10 dB in 25% (10 patients). In our short-term follow-up of 6 months, we found that cartilage-perichondrial graft reduces the chance of reperforation and retraction even with variation in middle ear pressure due to eustachian tube catarrh. It gives good take-up rate and comparable hearing result as that of the fascia graft. It does not affect the sound conduction when thinned out to appropriate thickness. It is available from the same surgical field and in sufficient quantity for the closure of the TM defect. Cartilage-perichondrium graft for Type 1 tympanoplasty could be a successful replacement for temporalis fascia giving good result with neotympanum.

Detection of concomitant pathology of the middle ear according to tympanometry in children with hoarseness

Aim: to study of the state of the vocal apparatus in children with hoarseness using videolaryngoscopy and assessment of the state conducting part of the auditory analyzer according impedance audiometry. Materials and methods: 24 children aged 4 to 10 years old were examined, whose parents complained of hoarseness in children (from several weeks to 1 year). Perceptual voice assessment in children showed hoarseness of the voice of varying degrees. Videolaryngoscopic examination was performed using a videolaryngoscope of the company «Karl Shtorz» (Germany), impedancemetry – using a clinical impedancemeter «Siemens SD-30» (Germany). Results: After examining the state of the voice apparatus and the middle ear in children with complaints about the hoarseness, we have found that according to videolaryngoscopy, they have changes in the form of swollenness, a slight hyperemia of vocal folds. According to the impedance measurement, in 17 out of 24 patients, a tympanogram of type «C» was detected, and in 7 of them there was a pronounced reduction of compilation of the tympanogram, indicating certain violations in the sound conduction system. Conclusion: When examining children with voice impairment, it is important to adhere to a comprehensive approach to diagnosis and to evaluate not only the state of the vocal apparatus, but also to remember the possible accompanying pathology of the nasopharynx, the nose and the auditory analyzer.