Identification of novel MYH14 variants in families with autosomal dominant sensorineural hearing loss.

Autosomal dominant sensorineural hearing loss (ADSNHL) is a genetically heterogeneous disorder caused by pathogenic variants in various genes, including MYH14. However, the interpretation of pathogenicity for MYH14 variants remains a challenge due to incomplete penetrance and the lack of functional studies and large families. In this study, we performed exome sequencing in six unrelated families with ADSNHL and identified five MYH14 variants, including three novel variants. Two of the novel variants, c.571G > C (p.Asp191His) and c.571G > A (p.Asp191Asn), were classified as likely pathogenic using ACMG and Hearing Loss Expert panel guidelines. In silico modeling demonstrated that these variants, along with p.Gly1794Arg, can alter protein stability and interactions among neighboring molecules. Our findings suggest that MYH14 causative variants may be more contributory and emphasize the importance of considering this gene in patients with nonsyndromic mainly post-lingual severe form of hearing loss. However, further functional studies are needed to confirm the pathogenicity of these variants.

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.

Comparison of two different bone anchored hearing instruments.

PURPOSE: To compare the audiological performances of Turkey's most up-to-date bone conduction implant processors. METHODS: Twenty-six bone-anchored hearing instrument users, thirteen in each group, were evaluated for speech understanding in quiet and several signal-to-noise ratios. RESULTS: We noticed the differences at 0.5 and 1 kHz measurements in free field frequency specific test, aided SRT scores, non-adaptive and adaptive matrix test results for a few conditions created a statistically significant difference in favor of Baha-6®. CONCLUSIONS: Both processors offer positive gains to their users in noisy and silent conditions. However, the data showed statistically significant differences for some measurements that may be critical for patients in daily practice.

Multidisciplinarity and Transdisciplinarity as Current Trends in Otorhinolaryngology and Head and Neck Pathology.

The specialty of otorhinolaryngology and cervicofacial surgery has experienced accelerated development in recent decades through the development of the techniques and technologies involved [...].

The effect of different types of convergent strabismus on horizontal eye movements.

PURPOSE: To investigate the effect of different types of convergent strabismus on horizontal eye movements and compare data with healthy control subjects. MATERIALS AND METHODS: This prospective, cross-sectional study included 38 patients with convergent strabismus (16 fully accommodative, 13 partially accommodative and 9 non-accommodative esotropia) and 19 age-matched control subjects. All of the participants had a detailed ophthalmological examination including visual acuity assessment, cover-uncover prism test, slit lamp, and indirect ophthalmoscopy examination. Videonystagmography (VNG) was used for the evaluation of horizontal eye movements such as saccadic accuracy, velocity, latency, and smooth pursuit velocity gain. RESULTS: The saccadic accuracy in the rightward direction was lower in the fully accommodative esotropia group compared to the partially accommodative esotropia group in the right eye (p = 0.002). The saccadic latency in the rightward direction was longer in the fully accommodative esotropia group compared to the control group (p = 0.008) and smooth pursuit velocity gain in the leftward direction was lower in the partially and non-accommodative esotropia group compared to the control group in binocular recording (p = 0.004, p = 0.001, respectively). There was no difference in the saccadic velocity among the study groups (p > 0.05). Finally, asymmetry of saccadic velocity and latency was observed between right- and leftward directions in the partially accommodative esotropia group in the right eye (p = 0.003, p = 0.008, respectively). CONCLUSION: This study demonstrated that horizontal eye movements may vary in different types of convergent strabismus. VNG may be an auxiliary tool to the clinical examination in differentiating fully or non-accommodative esotropia.

Respiratory viruses in the healthy middle ear and middle ear with otitis media with effusion.

To investigate the presence of respiratory viruses in the middle ear cavity of the individuals with a healthy middle ear and the children with otitis media with effusion (OME). A total of 72 middle ear samples were collected from 25 children with OME (Group 1) and 47 individuals with no middle ear disease (Group 2). Multiplex real-time polymerase chain reaction was used to investigate the presence of 20 different respiratory viruses. Virus results were compared with bacteriomes of the same populations. At least one respiratory virus was detected in 56% of the patients in Group 1 and 12.8% of the individuals in Group 2. The viral co-infection rate for Group 1 and 2 was 8% and 2.1%, respectively. In Group 1, adenovirus was the most frequently detected virus with a rate of 24%, either alone (16%) or concurrent with other viruses (8%), followed by influenza B (12%), rhinovirus, and bocavirus (8%) each. Parainfluenza 4, coronavirus OC43, and RSV A/B were detected in 4% of the sample each. In Group 2, rhinovirus was detected in two samples (4.3%) followed by adenovirus, coronavirus OC43, coronavirus E299, and coronavirus NL63 with a rate of 2.1% each. The detection rate of respiratory viruses was significantly higher in children aged 6 to 11 years. There was no positive association between virus and bacteria found in the middle ear cavity. The current study has provided comprehensive data indicating the presence of diverse respiratory viruses in the healthy middle ear cavity. Our results also suggest that respiratory viruses might have a contribution to OME pathogenesis.

A novel approach to managing COVID-19 patients; results of lopinavir plus doxycycline cohort.

This manuscript aims to present a treatment algorithm we applied to manage COVID-19 patients admitted to our hospital. During the study period, 2043 patients with suspected COVID-19 were admitted to the emergency department. Molecular tests indicated that 475 of these patients tested positive for COVID-19. We administered hydroxychloroquine plus doxycycline to mild cases (isolated at home) for 3 days and lopinavir plus doxycycline to moderate and severe cases (hospitalized) for 5 days. The overall case fatality rate was 4.2% (20/475).

Does the SARS-CoV-2 pandemic really increase the frequency of peripheral facial palsy?

PURPOSE: Publications about increased number of peripheral facial paralysis in the COVID-19 pandemic emerged in the literature. However, these studies comprised of an estimate rather than a broad analysis of exact numbers. In this study, we planned to investigate whether the pandemic really resulted in an increase in facial paralysis cases admitted to the hospital by evaluating the cases who applied to our hospital due to facial paralysis in the COVID-19 pandemic year and in the previous 4 years. MATERIALS AND METHODS: Patients who applied to our hospital due to facial paralysis between March 2016-February 2017 (Group 1), between March 2017-February 2018 (Group 2), between March 2018-February 2019 (Group 3), between March 2019-February 2020 (Group 4), and between March 2020-February 2021 (Group 5) were investigated and detailed data were noted. RESULTS: 156, 164, 149, 172 and 157 patients were admitted to the hospital due to peripheral facial paralysis in Group 1, 2, 3, 4, and 5, respectively. Of these patients, 155, 164, 145, 169, and 153 were Bell's palsy, respectively. SARS-CoV-2 RT-PCR test was positive in only 2 of the 153 patients who were diagnosed in the year of the pandemic. CONCLUSIONS: This study showed that the number of peripheral facial paralysis detected during the COVID-19 pandemic was similar to previous years. Very few number of positive SARS-CoV-2 RT-PCR test results may have been found incidentally in Bell's palsy patients. Theses stating that SARS-CoV-2 causes peripheral facial paralysis should be supported by laboratory studies and postmortem research.

Tympanogram Findings in Hemodialysis Patients.

BACKGROUND: The aim of this study is to investigate whether changes in cerebrospinal fluid (CSF) pressure during the hemodialysis (HD) treatment are reflected on tympanometric measurements. METHODS: The study was performed on 24 HD patients. The static compliance and absorbance values of the patients before and after HD were measured using a wideband tympanometry. The tympanogram tests were performed immediately before and at the end of the HD session. RESULTS: The static compliance values of the patients after HD were significantly lower than those before HD. This decrease significantly correlated with the adequacy of dialysis determined by urea reduction rate and Kt/V. The absorbance values showed a decrease in the band 343 and 727 Hz, but no significant difference was found in other frequencies. The static admittance and absorbance values were influenced by the HD process. DISCUSSION: This influence might be due to the increase in CSF pressure as a result of the removal of urea from blood during HD session.

Comparing Spontaneous Closure and Paper Patching in Traumatic Tympanic Membrane Perforations.

The authors aim to analyze the effects of oral antibiotic treatment for traumatic tympanic membrane perforations and to compare the outcomes of patients with traumatic tympanic membrane perforation after paper-patching procedure and spontaneous healing.In this study, 80 patients with traumatic tympanic membrane perforation diagnosed in the otorhinolaryngology emergency department and outpatient clinic from March 2010 to January 2015 were retrospectively reviewed. If the patient is diagnosed at first week and the edge of perforation is moist with blood, our routine procedure is paper-patching (group 1). However, if the patients reject treatment or delay in admission, the authors follow up patients for spontaneous closure (group 2). Some of the patients got oral antibiotics for 7 days (amoxicillin/clavulanic acid, 1000 mg 2 times/d) while some others did not. Closure rates and effectivity of oral antibiotics were evaluated and compared between 2 groups.In total, 80 patients were analyzed. The closure rates of perforations were 95.2% for group 1 (n = 42) and 81.6% for group 2 (n = 38). Although the paper-patched patients (group 1) perforation closure rate (95.2%) is higher than the nontreated patients (group 2) closure rate (81.6%), it is not statistically significant (P > 0.05). Antibiotic administered 55 patients had a significantly higher closure rate (94.5%) than the 25 patients who are not treated with antibiotics (76%) (P = 0.023; P < 0.05).In patients with traumatic tympanic membrane perforations, spontaneous closure rate is quite high. This study showed us that antibiotherapy and paper-patch treatments increase the healing rates.

Vestibulo-Ocular Reflex in the Aging Population.

Objectives: The aim of this study was to evaluate vestibulo-ocular reflex (VOR) of individuals over 60 years of age who have not been diagnosed with a specific vestibular pathology. Methods: Bilateral six-semicircular canal video head impulse test (vHIT), Dizziness Handicap Inventory and European Evaluation of Vertigo scales were applied to participants. Results: In total, 103 participants were included in the study (75 male, 28 female), and the mean age was 69.35 ± 7.41 years. The mean age of 7th decade group was 64.32±3.12 (59 participants; 38 male, 21 female), and the mean age of 8th decade and older group was 76.11±5.93 (44 participants; 37 male, 7 female). No significant differences were found between the VOR gains of the lateral or vertical semicircular canals between the 7th decade and 8th decade and older groups (p>0.05). In the 8th decade and older group, the presence of right lateral semicircular canal corrective saccade and left posterior semicircular canal corrective saccade showed a positively moderate correlation with VOR gains of the same semicircular canals (r=0.455, p=0.002, and r=0.518, p=0.001, respectively). No significant correlation was found between age and VOR gain in the 7th decade group, however, there was a negatively weak correlation between age and left lateral semicircular canal VOR gain (r=-0.366, p=0.017) in the 8th decade and older group. Conclusion: While assessing the age-related changes in VOR using vHIT, it must be considered that the changes related to aging of the vestibular system begin to emerge in the population over 70 years of age, and corrective saccade findings may be more informative than VOR gains in revealing these changes.

Genetic heterogeneity in hereditary hearing loss: Potential role of kinociliary protein TOGARAM2.

Hearing loss (HL) is a heterogenous trait with pathogenic variants in more than 200 genes that have been discovered in studies involving small and large HL families. Over one-third of families with hereditary HL remain etiologically undiagnosed after screening for mutations in the recognized genes. Genetic heterogeneity complicates the analysis in multiplex families where variants in more than one gene can be causal in different individuals even in the same sibship. We employed exome or genome sequencing in at least two affected individuals with congenital or prelingual-onset, severe to profound, non-syndromic, bilateral sensorineural HL from four multiplex families. Bioinformatic analysis was performed to identify variants in known and candidate deafness genes. Our results show that in these four families, variants in a single HL gene do not explain HL in all affected family members, and variants in another known or candidate HL gene were detected to clarify HL in the entire family. We also present a variant in TOGARAM2 as a potential cause underlying autosomal recessive non-syndromic HL by showing its presence in a family with HL, its expression in the cochlea and the localization of the protein to cochlear hair cells. Conclusively, analyzing all affected family members separately can serve as a good source for the identification of variants in known and novel candidate genes for HL.

Congenital aplasia of the external ear canal and total dehiscence of mastoid-tympanic segment of the facial nerve as a cause of recurrent facial paralysis.

Facial nerve (FN) macrodehiscence, in contrast to microdehiscence, generally occurs as a result of chronic otitis media and is rarely seen congenitally. A patient with normal hearing who had no history of ear disease or ear operation came to the clinic with recurrent facial paralysis (FP) and frequent blockage of the external ear canal with epithelial debris complaints. In the explorative ear surgery, we observed that the posterior wall of the external ear canal or tympanic ring was absent, a large external ear cavity was covered with a thin skin, the FN was under the skin, and the tympanic-mastoid segment of the FN and chorda tympani extending to the stylomastoid foramen was completely open. FP episodes were associated with the unprotected FN.To prevent an attack of FP, and to self-clean the external ears, mastoid obliteration surgery was performed, and the mastoid segment of the FN was covered with a conchal cartilage graft. This case was diagnosed as congenital aplasia of the external ear canal due to the tympanic bone aplasia-mastoid bone hypoplasia, and the dehiscence of the mastoid-tympanic segment of the FN, and as a cause of recurrent FP, has never to date been identified.

Depression, Anxiety, and Quality of Life in Patients with Cochlear Implant: A Case-Control Study.

BACKGROUND: It is known that there is a relationship between hearing loss, which is an important cause of disability, psychological symptoms, and low quality of life. The aim of this study is to evaluate the anxiety, depression levels, and quality of life analysis of adults with postlingual hearing loss and who have undergone cochlear implants and to compare them with the data of subjects who have never had a hearing loss. METHODS: The prospective controlled clinical study included 53 subjects who had cochlear implants and 52 healthy controls in terms of hearing. Hospital Anxiety and Depression Scale and Short Form 36 were filled by all subjects to investigate their depression, anxiety, and quality of life levels. RESULTS: The mean age of subjects was 42.88 ± 18.04, and 44% (23) were women. There was no significant difference between the study and control groups in terms of Hospital Anxiety and Depression Scale scores. Short Form 36 physical role (P = .018) and SF-36 general health (P = .014) in quality of life assessment sub-scores were statistically significantly higher in the study group than in the control group. When the correlation between the time elapsed after surgery and Hospital Anxiety and Depression Scale scores and Short Form 36 scores was evaluated, no significance was observed. CONCLUSION: The fact that the patients evaluated after cochlear implant surgery had similar depression and anxiety levels and quality of life as the controls, and even physical role and being significantly better in general health compared to the controls reveal the importance of regaining the hearing ability.

Traumatic thrombosis of internal carotid artery sustained by transfer of kinetic energy.

A 31-year-old male patient with a fatal thrombosis of the internal carotid artery caused by gun shot injury was presented in this case report. The patient was referred to the hospital with a diffuse edema on his left cheek. On otolaryngologic examination, there was a bullet entrance hole at the left mandibular corpus. No exit hole could be found. The finding from his axial computed tomography of neck and paranasal sinuses was normal. On neurological examination, a dense right hemiparesis was observed. In his cerebral angiogram, left common carotid artery was totally obliterated. Diffuse ischemia was observed in the left cerebral hemisphere. Despite intensive interventions, the patient died 4 days after the accident. In the autopsy, a large thrombosis was obtained in the left common carotid artery. This case emphasizes a fatal kinetic energy effect in vascular structures. It is stressed that a gun shot injury could be fatal with its indirect kinetic energy effects at subacute phase.

Psychosocial Impact of the COVID-19 Pandemic on Children With Cochlear Implants and Their Parents/Family Members.

PURPOSE: The purpose of this study was to describe hearing health care and education experiences of children with cochlear implants (CIs) during the COVID-19 pandemic and the potential psychosocial effects of the pandemic on these children and their parents/family members. METHOD: The study used a cross-sectional survey design. The study sample comprised two groups, namely, parents/family members of children with CIs (study group, n = 70, M age = 44.6 ± 12.4 years) and parents/family members of children with normal hearing (control group, n = 58, M age = 43.8 ± 11.5 years). Parents/family members completed the Perceived Stress Scale (PSS), the Coronavirus Anxiety Scale (CAS), and the Family Perspective Profile form, as well as the Demographic Information form. RESULTS: The PSS scores of the study group were higher than those of the control group (p = .001). However, there was no statistically significant difference between groups in the CAS scores (p = .896). According to the Family Perspective Profile form, almost half of the parents/family members of children with CIs reported that their children experienced difficulties in education and hearing health care services during the pandemic and showed some changes in their attitudes and behaviors. CONCLUSIONS: During the pandemic, the stress levels of parents/family members of children with CIs were higher than parents/family members of children with normal hearing. In addition to the challenges posed by the pandemic, the difficulties that parents/family members of children with CIs experience in meeting their children's additional needs related to accessing education and hearing health care services may have contributed to increased stress levels.

Evaluation of the Effect of Musical Perception Activities on Speech Perception in Adult Cochlear Implant Users.

Objective: This study aimed to evaluate clinical musical perception, analyze the relationship between speech recognition and music perception, and investigate the effects of a three-month musical perception activities on these parameters in adult cochlear implant (CI) users with post-lingual hearing loss. Methods: Free-field hearing and speech tests in a quiet environment, the Turkish matrix test, and the Turkish version of the clinical assessment of musical perception test were performed on 18 adult unilateral CI users before and after the three-month music training. Results were compared with those of 18 healthy controls. Results: Prior to the musical perception activities, word recognition scores, Turkish matrix test results, and 500, 1000, and 6000 Hz free-field hearing thresholds were significantly correlated with the clinical assessment of musical perception test scores in the CI group (p<0.047). Timbre recognition scores (p=0.019) had improved significantly in the CI group after the three-month musical perception activities. On the other hand, timbre recognition scores had significantly affected the Turkish matrix test results (R2adjusted=0.56). Conclusion: Our study showed that speech perception in noise and clinical musical perception measurements affected each other in CI users. The inclusion of musical perception activities to support an auditory rehabilitation program may contribute to increased speech recognition skills in noise.