MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing loss.

While recent studies have revealed a substantial portion of the genes underlying human hearing loss, the extensive genetic landscape has not been completely explored. Here, we report a loss-of-function variant (c.72delA) in MPZL2 in three unrelated multiplex families from Turkey and Iran with autosomal recessive nonsyndromic hearing loss. The variant co-segregates with moderate sensorineural hearing loss in all three families. We show a shared haplotype flanking the variant in our families implicating a single founder. While rare in other populations, the allele frequency of the variant is ~ 0.004 in Ashkenazi Jews, suggesting that it may be an important cause of moderate hearing loss in that population. We show that Mpzl2 is expressed in mouse inner ear, and the protein localizes in the auditory inner and outer hair cells, with an asymmetric subcellular localization. We thus present MPZL2 as a novel gene associated with sensorineural hearing loss.

Cartilage reinforcement graft versus fascia graft in tympanoplasty

Background/aim: The purpose of this study was to compare cartilage reinforcement graft results with temporalis fascia graft alone in terms of hearing and anatomical outcomes in tympanoplasty. Materials and methods: Patients who underwent tympanoplasty with/without ossiculoplasty and/or mastoidectomy at a university hospital from 2006 through 2013 were reviewed retrospectively. The patients were divided into those grafted with temporalis muscle fascia alone and with fascia reinforced with cartilage. The postoperative air bone gap, gain in hearing thresholds, and graft status were evaluated for each group. Results: The study subjects included 179 patients. There were 82 patients in the fascia group and 97 patients in the cartilage group. Successful hearing results were elicited in 79.2% of the fascia group and 85.5% of the cartilage group. There was no significant difference in overall graft success. The graft was intact in 82.9% of the fascia group and 86.5% of the cartilage group. Conclusion: In this comparative study the use of cartilage to reinforce the temporalis muscle fascia was analyzed, showing better hearing and anatomical results than sole use of fascia in tympanoplasty both for primary and revision cases. Thus, in the light of our results, when performing tympanoplasty we recommend the use of cartilage reinforcement grafting whenever needed and indicated.

Does Dehiscence of the Facial Nerve Canal Affect Tympanoplasty Results?

This study aimed to evaluate the prevalence of facial nerve canal dehiscence in tympanoplasty patients and its influence on the need for revision surgery and on hearing results and anatomical outcomes. Patients who underwent tympanoplasty with/without mastoidectomy at Ankara University Otolaryngology Department from 2006 through 2013 with a minimum follow-up period of 6 months were reviewed retrospectively in this original study. Patients were divided into those with and without cholesteatoma. Numbers and frequencies of dehiscence were recorded according to disease type, the need for revision surgery, and hearing results and anatomical outcomes. Study subjects included 206 patients, of whom 15 (7.3%) had dehiscence. The prevalence of dehiscence was significantly high in the patients with cholesteatoma (13/50 patients) compared with those without (2/156 patients). The dehiscence frequency was significantly high in cholesteatoma (42.8%), as well as overall (14.7%), revision-surgery patients. Hearing results (P < 0.05) and anatomical outcomes were better in patients without dehiscence. Dehiscence is more common in patients with than without cholesteatoma and negatively affects tympanoplasty outcomes, including hearing results, anatomical outcomes, and the need for revision surgery.

How Often Does Isolated Sphenoid Sinus Disease Turn Out to be a Neoplasm?

Isolated sphenoid sinus disease (ISSD) describes a wide spectrum of pathologies including inflammatory, vascular, bony dysplastic, and neoplastic diseases. The aim of this study was to assess the frequency with which a neoplastic process was diagnosed in patients of ISSD and patient management strategies. A retrospective analysis was conducted for all ISSD patients who underwent surgery between January 2005 and January 2014 at a tertiary center. The clinical characteristics, radiologic studies, operative findings, endoscopic surgical techniques, pathology results, and treatment outcomes of the patients were analyzed. In all, 42 patients (31 women and 11 men) were included in the study. Histopathologic examinations revealed that 10 patients (23.4%) had neoplasms (8 benign and 2 malignant), 19 (45.2%) had mucocele, 7 (16.7%) had fungal disease, and 6 (14.3%) had meningoencephalocele and cerebrospinal fluid leakage. With the exception of 2 patients with plasmacytoma, complete removal of the lesions was achieved in all patients using transnasal or transethmoidal endoscopic approaches, and no local recurrences were observed during the mean follow-up period of 42 months. More than one fifth of the patients with ISSD were diagnosed with neoplasms. The results indicated that endonasal endoscopic approaches could effectively help manage patients with ISSD lesions, including those that were neoplastic. It is clear that precaution during preoperative planning is imperative to avoid unexpected situations and complications that may put surgeons in a difficult position during surgery.

The effect of screen time on hearing and balance in 6-16 aged children.

BACKGROUND: The increase in screen time and the decrease in physical- activity cause balance problems as well as many systemic handicaps. AIMS/OBJECTIVES: This study aimed to determine the effect of screen time on balance and the effect of headphone usage time on hearing. METHOD: Thirty-four individuals aged 6-16 years who applied to our clinic with complaints of dizziness and/or balance disorder were included in the study. Participants were divided into 2 groups according to their screen time: Group 1 (4-8 h/day) and Group2(>8 h/day). The other two groups are grouped according to headphone usage time as Group A (2-4 h/day) and Group B (>4hours/day). Pure-tone audiometry, extended high frequency-audiometry, Videonystagmography (VNG) and Computerized Dynamic Posturography (CDP) tests and Pediatric Berg Balance Scale and Visual Analogue Scale were applied to all individuals. CDP scores and pure tone hearing thresholds between groups were compared. RESULTS: A significant difference was observed between Group 1 and Group 2 according to the CDP test (visual, vestibular and composite scores), and according to the VAS-dizziness and PBS (p ≤ .05). Pure tone average and pure tone thresholds at high frequencies were compared between Group A and Group B according to headphone usage time. Pure tone thresholds of Group B were worse at high frequencies than Group A (p ≤ .05). CONCLUSIONS: It has been observed that prolonged screen time may cause balance impairment in children and prolonged use of headphones may affect high-frequency hearing thresholds.

The effects of diet and physical activity induced weight loss on the severity of tinnitus and quality of life: A randomized controlled trial.

BACKGROUND & AIMS: Subjective tinnitus is the most common and manifest auditory symptom of an existing pathology in the auditory system. Although the effect of obesity on tinnitus is still uncertain, it is known that increased fat tissue increases the severity and symptoms of tinnitus. In this study, it was aimed to evaluate the effect of weight loss through diet and physical activity on tinnitus. METHODS: Forty-six obese subjects diagnosed with tinnitus were randomized into the diet + physical activity (PA) (n = 13), diet (n = 16) and the control groups (n = 17). The anthropometric measurements, tinnitus severity scores, tinnitus handicap inventory (THI) scores and short form quality of life (SF-36) scores of the individuals were recorded and compared at the beginning and at the end of the study. RESULTS: In the diet + PA and diet groups; body weight (diet + PA:-6.5 ± 2.6; diet: -4.1 ± 1) tinnitus severity (diet + PA:-11.0 ± 7.0; diet: -9.0 ± 8.7) and THI scores (diet + FA:-15.0 ± 9.5; diet: -14.0 ± 10.0) significantly decreased compared to the control group (p < 0.01). This decline was more in those with weight loss of ≥5.0% than those with <5.0%. SF-36 score was significantly increased in the diet + PA and diet groups (respectively 10.0 ± 5.5 and 6.0 ± 2.7) compared to the control group (p < 0.05). CONCLUSIONS: Diet and physical activity intervention ameliorated the tinnitus severity and quality of life in obese patients with tinnitus. However to generalize this findings further studies are needed. REGISTERED UNDER CLINICALTRIALS. GOV IDENTIFIER NO: NCT00123456.

Pseudomonas Aeruginosa Sepsis in a Previously Healthy Infant with Subcutaneous Nodules and Mastoid Bone Destruction.

Pseudomonas aeruginosa septicemia is rare in previously healthy children. Skin lesions such as subcutaneous nodules and ecthyma gangrenosum may be the first manifestation of Pseudomonas infection that have rarely been reported. Herein we reported a previously healthy 6-month-old boy patient who presented with suppurative otitis media, multiple nodules, septic shock, and P. aeruginosa was identified in cultures of the blood, skin lesions, and purulent material of his ears.

Effect of Bone Marrow-Derived Mesenchymal Stem Cells on Cochlear Function in an Experimental Rat Model.

Mesenchymal stem cell (MSC) therapy is an emerging treatment modality for various human diseases. Although induced pluripotent stem cells have been explored for the restoration of hearing, the potential of MSCs as a therapeutic strategy for various cochlear insults is not precisely known. MSCs possess anti-inflammatory, anti-apoptotic and neuroprotective properties, making them an attractive target for the treatment of inner ear disorders such as hair cell damage in response to inflammation. Most of the previous studies have used immunosuppression or the complex surgical techniques to deliver stem cells into the cochlea. However, no information is available regarding the biocompatibility and safety of MSCs in the inner ear in immunocompetent cochlea. The aim of the present study was to determine the effect of non-surgical administration of rodent bone marrow derived MSCs (BM-MSCs) through transtympanic delivery on the cochlear function and to assess any adverse effects on the auditory system employing a rat model without immunosuppression. We observed that the transtympanic administration of BM-MSCs has no significant effect on the hearing thresholds as determined by auditory brainstem response and distortion product otoacoustic emissions. Histopathological examination revealed no recruitment of inflammatory leukocytes and edema in the cochlea of BM-MSCs administrated rats. The results of this study suggest that transtympanic administration of BM-MSCs is safe and can be explored in providing otoprotection against cochlear insults. Anat Rec, 303:487-493, 2020. © 2019 American Association for Anatomy.

Biocompatibility of Bone Marrow-Derived Mesenchymal Stem Cells in the Rat Inner Ear following Trans-Tympanic Administration.

Recent advancements in stem cell therapy have led to an increased interest within the auditory community in exploring the potential of mesenchymal stem cells (MSCs) in the treatment of inner ear disorders. However, the biocompatibility of MSCs with the inner ear, especially when delivered non-surgically and in the immunocompetent cochlea, is not completely understood. In this study, we determined the effect of intratympanic administration of rodent bone marrow MSCs (BM-MSCs) on the inner ear in an immunocompetent rat model. The administration of MSCs did not lead to the generation of any oxidative stress in the rat inner ear. There was no significant production of proinflammatory cytokines, tumor necrosis factor (TNF)-α, interleukin (IL)-1ß, IL-6 and IL-12, due to BM-MSCs administration into the rat cochlea. BM-MSCs do not activate caspase 3 pathway, which plays a central role in sensory cell damage. Additionally, transferase dUTP nick end labeling (TUNEL) staining determined that there was no significant cell death associated with the administration of BM-MSCs. The results of the present study suggest that trans-tympanic administration of BM-MSCs does not result in oxidative stress or inflammatory response in the immunocompetent rat cochlea.

Genetic Causes of Inner Ear Anomalies: a Review from the Turkish Study Group for Inner Ear Anomalies

Inner ear anomalies diagnosed using a radiological study are detected in almost 30% of cases with congenital or prelingual-onset sensorineural hearing loss. Inner ear anomalies can be isolated or occur along with a part of a syndrome involving other systems. Although astonishing progress has been made in research aimed at revealing the genetic causes of hearing loss in the past few decades, only a few genes have been linked to inner ear anomalies. The aim of this review is to discuss the known genetic causes of inner ear anomalies. Identifying the genetic causes of inner ear anomalies is important for guiding clinical care that includes empowered reproductive decisions provided to the affected individuals. Furthermore, understanding the molecular underpinnings of the development of the inner ear in humans is important to develop novel treatment strategies for people with hearing loss.

Management of Facial Nerve Schwannoma: A Multicenter Study of 50 Cases.

Objective In the management of facial nerve schwannoma (FNS), surgical tumor resection is now often being replaced with more conservative approaches, such as observation with serial imaging or stereotactic radiosurgery (SRS). Given the scarcity of these lesions, determining the optimal management of FNS remains challenging and subject of debate with multiple treatment approaches supported in the literature. Methods A retrospective chart review was performed in two academic centers for patients diagnosed with FNS between 1996 and 2017. The clinical presentation, treatment modalities employed, tumor control rates, and facial nerve function (FNF) outcomes (House-Brackmann system) were assessed and analyzed. Results The study comprised 50 adult patients. Initial treatment modalities included observation with serial clinicoradiologic review in 27 patients (54%), surgery in 17 patients (34%), and SRS in 6 patients (12%). The FNF were decreased in more than half of the patients who had surgery. Nonetheless, more than 80% of the patients who were initially managed with observation or SRS had stable or improved FNF. Conclusion A prevailing trend toward more conservative treatment modalities for FNS has evolved over time, providing relatively long-term preservation of FNF. As there are multiple management options available, it is of paramount importance that the treating physician be familiar with all treatment modalities and outcomes and counsel patients appropriately. The surgery should be reserved for large tumors and poor FNF at initial presentation or follow-up while watchful observation with imaging is the treatment of choice for rest of the patients.

Radiological Evaluation of Inner Ear with Computed Tomography in Patients with Unilateral Non-Pulsatile Tinnitus.

OBJECTIVE: The objective of this research was to investigate the possible relationship between tinnitus and certain bony inner ear structures using computed tomography (CT). MATERIALS AND METHODS: This was a prospective, controlled, double-blind study. The subjects of the study were divided into the following three groups: group 1 (G1), patients with unilateral sensorineural hearing loss (SNHL) and unilateral non-pulsatile tinnitus in the same ear; group 2 (G2), patients with normal hearing and unilateral non-pulsatile tinnitus; and group 3 (G3), healthy volunteers with neither tinnitus nor hearing loss. The basal turn length, internal acoustic canal (IAC) width and length, bony cochlear nerve canal (BCNC) width, and IAC diameter at the porus acousticus internus (PAI) were measured. RESULTS: The mean BCNC width was significantly narrower in G1 and G2 than in the control group (G3) (p<0.001). For patients in G2, BCNC width was significantly narrower in ears with tinnitus (p<0.001) than in ears without tinnitus. The mean IAC diameter at PAI was also narrower in the G1 patients (p=0.007) compared with the other groups. CONCLUSION: The results of this study suggest that CT evaluation of the inner ear structures is important in patients with tinnitus. According to the results, a narrow BCNC may cause phantom sensations and be related to cochlear nerve dysfunction. Therefore, it is recommended that clinicians evaluate BCNC carefully while assessing such patients.

Advanced Otosclerosis: Stapes Surgery or Cochlear Implantation?

Diagnosis and treatment of advanced otosclerosis can be controversial. In 1961, House and Sheehy defined advanced otosclerosis as hearing loss in air conduction threshold by 85 dB with nonmeasurable bone conduction. Recently, the definition of advanced otosclerosis is mostly based on the decrease of speech recognition. There are some treatment modalities: stapes surgery and hearing aids, cochlear implantation, or direct acoustic cochlear implant. The authors propose a new algorithm for treatment. If the patient is treated with cochlear implantation, the surgeon should be cautious for facial nerve stimulation after surgery because it is the most prevalent complication.

Effects of early postoperative nasal decongestant on symptom relief after septoplasty.

BACKGROUND: A randomized, prospective, double-blinded clinical study was conducted at a single, tertiary referral center. The aim of the study was to evaluate the effects of nasal decongestant use in the early postoperative period after septoplasty. METHODS: After septoplasty, patients who met the study inclusion criteria were randomized into 2 groups to receive either physiologic saline irrigation (saline group) or physiologic saline irrigation plus oxymetazoline hydrochloride 0.05% nasal spray (saline+oxymetazoline group). Visual analog scale (VAS) scores for bleeding, pain, and nasal crusting; Nasal Obstruction Symptom Evaluation (NOSE) scores; and rhinomanometric measurements were assessed pre- and postoperatively. RESULTS: The VAS scores for bleeding and nasal crusting of patients in the saline+oxymetazoline group were significantly lower compared with the saline group (p < 0.005). VAS scores for pain were similar between the groups (p > 0.05). Total nasal resistance and NOSE scores of patients in the saline+oxymetazoline group were significantly lower than in saline group after surgery (p < 0.005). CONCLUSION: The use of nasal decongestant sprays in the very early postoperative period is beneficial to reduce the postsurgical nasal crusting and bleeding symptoms and also for decreasing nasal resistance in this edematous period.

Central Auditory Processing Disorders in Individuals with Autism Spectrum Disorders

The etiology and the underlying pathogenetic mechanisms of autism spectrum disorders are still largely unknown. This article provides a comprehensive review of the studies that are relevant to autism spectrum disorders and central auditory processing disorders and also discusses the relationship between autism spectrum disorders and central auditory processing disorders in the light of recent studies on this subject, which may provide new pathways in a therapeutic perspective. Several studies confirm that most of the individuals with an autism spectrum disorder have some degree of sensory dysfunction related to disorders of processing auditory, visual, vestibular, and/or tactile stimuli. Among these studies, some have addressed central auditory processing disorders. There is an increasing amount of effort for studies regarding the link between autism spectrum disorders and central auditory processing disorders. Most of the studies investigating central auditory processing disorders in patients with autism spectrum disorders have used electrophysiological measurements such as mismatch negativity and P300 event-related potentials. In addition to these, several studies have reported deterioration in speech perception and expression in patients with autism spectrum disorders, which may also be related to central auditory processing disorders in this unique group of individuals.

A Noteworthy Pathology in Children with Learning Disabilities: Late Latency Response Failure in Central Auditory Processing.

OBJECTIVES: This study investigates the cortical auditory pathways in children with and without learning disability (LD). MATERIALS AND METHODS: A prospective, controlled clinical study was conducted on patients diagnosed with LD and was followed-up for a minimum period of 6 months in the Department of Child and Adolescent Psychiatry were included as study group. The control group comprised of age- and gender-matched healthy individuals. After otolaryngological and psychiatric examination, all participants were tested using pure-tone audiometry, tympanometry, acoustic reflex, and cortical auditory evoked potentials. Test results were evaluated and compared for each group. RESULTS: The study included a total of 60 children (30 children with LD as study group and 30 healthy children as control group) who met the inclusion criteria. When event-related potentials were taken into consideration, P2 and P300 mean amplitudes for right ears and N1 and P300 mean amplitudes for left ears were significantly lower in study group than those in the control group. Likewise, P2 and P300 mean latency in right ears and P1, N1, and P300 mean latency in left ears were prolonged in study group (p<0.05). CONCLUSION: Patients with LD may have disorders of the cortical auditory processing even if they have normal hearing screening tests. Pathologies in late-latency evoked potentials may have a role in the etiology of these patients.

Preclinical and clinical otoprotective applications of cell-penetrating peptide D-JNKI-1 (AM-111).

There is a growing interest in the auditory community to develop novel prophylactic and therapeutic drugs to prevent permanent sensorineural hearing loss following acute cochlear injury. The jun-N-terminal protein kinase (JNK) pathway plays a crucial role in acute sensory hearing loss. Blocking the JNK pathway using the cell-penetrating peptide D-JNKI-1 (AM-111/brimapitide) has shown promise as both a prophylactic and therapeutic agent for acute cochlear injury. A number of pre-clinical and clinical studies have determined the impact of D-JNKI-1 on acute sensorineural hearing loss. Given the inner-ear selective therapeutic profile, local route of administration, and ability to diffuse across cellular membranes rapidly using both active and passive transport makes D-JNK-1 a promising oto-protective drug. In this review article, we discuss the application of D-JNKI-1 in various auditory disorders as well as its pharmacological properties and distribution in the cochlea.

Medical adherence to intranasal corticosteroids in adult patients.

INTRODUCTION: The adherence to medical treatment in allergic rhinitis is poorly evaluated in clinical practice. OBJECTIVES: To evaluate adherence to intranasal corticosteroids in the treatment of allergic rhinitis patients. METHODS: This prospective study was conducted on adult patients who were admitted to the outpatient clinic of the otolaryngology department tertiary hospital. Patients diagnosed with moderate to severe persistent AR and who had not used any nasal sprays were enrolled in the study. The patients were provided with mometasone furoate nasal sprays. On the 30th day, all participants filled out a questionnaire regarding the factors that may have influenced their adherence to the treatment. Afterwards, each patient filled out the Turkish-language-validated Morisky Medical Adherence Scale (MMAS-8) form. Each factor that may have affected adherence to the prescribed medication was evaluated according to the MMAS-8 score and all variables were analyzed statistically. RESULTS: Fifty-nine adult patients with a mean age of 32.5 years (range 21-52 years) were included in the study. The mean overall MMAS-8 score was 3.64. Two factors were significantly related to low adherence: number of dependent children (p=0.001) and benefit from the medication (p=0.001). In addition, patients with higher education levels seemed to be more adherent than the rest of the group. CONCLUSION: Clinicians must keep in mind the factors related to non-adherence in order to achieve better treatment outcomes. Therefore, based on our results, patients must be informed that medications should be taken properly regardless of the benefit, and the treatment should be scheduled with respect to daily activities, particularly for patients caring for more than two children.

How can we improve medical adherence to intranasal corticosteroids in children?

OBJECTIVE: To evaluate the factors which may be related to nonadherence to intranasal corticosteroids (ICS) in the treatment of allergic rhinitis (AR) in children. METHODS: A prospective study was conducted on children with AR diagnosis in a tertiary referral hospital. All participants were provided with mometasone furoate nasal sprays for 30 days after the diagnosis. Caregivers were called back when the therapy was over and completed a questionnaire about the factors that may influence the adherence to the treatment. Afterwards each caregiver completed the Turkish language validated Morisky Medical Adherence Scale (MMAS-8) form. Each factor was evaluated according to MMAS-8 score and all variables were analyzed statistically. RESULTS: A total number of 76 children with a mean age of 7.82 years were included in the study. The mean overall MMAS-8 score was 2.80. There was only one factor significantly related to low adherence; the number of dependent children to the caregiver (p = 0.011). Besides this 71.51% of the answers to MMAS-8 scale were compatible with good adherence. CONCLUSION: The clinician must consider the factors which may lead to non-adherence while setting up a treatment plan. The demographic and sociocultural factors must be taken into consideration and treatment schedule should be made in respect of daily activities of the children. Moreover the father can be involved in the therapy plan and back up the mother as they are usually the responsible parent for children's medical therapy.