Francesco Stomeo

Background/Objectives: The TECTA gene variant is one of the most common causes of nonsyndromic congenital hearing loss affecting the mid-frequency range. Situated on chromosome 11q22–q24, the TECTA gene encodes α-tectorin, a non-collagenous protein of the tectorial membrane. Pathogenetic variants of TECTA are relatively rare, and numerous variants have been described, complicating the delineation of a clear and recognizable clinical phenotype. This scoping review aims to provide an up-to-date overview of the known TECTA variants causing autosomal dominant sensorineural hearing loss (ADSNHL) and their associated audiological phenotypes. Methods: A review of the English-language literature on hearing loss associated with TECTA variants was conducted using PubMed, Scopus, Google Scholar, and MEDLINE databases, in accordance with the “Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA)” criteria for scoping review. Results: Eighteen studies met all inclusion criteria. Overall, 44 unique TECTA variants were identified after recurrent reports of the same cDNA-level variant were consolidated. Of these, 14 were classified as pathogenic or likely pathogenic (P/LP), 9 as variants of uncertain significance (VUS), while the remaining 21 had conflicting, benign/likely benign, or unavailable classification. Domain-based analysis showed a marked prevalence of variants in the ZA domain (21 variants, 47.73%), followed by the ZP domain (14 variants, 31.82%) and the ENT domain (5 variants, 11.36%). Thirty-two variant occurrences were reported in association with hearing loss in the mid frequencies and 12 in the high frequencies. Stable hearing loss was reported for 15 variant occurrences, whereas progressive hearing loss was reported for 13. Conclusions: The identification and characterization of novel genetic variants associated with hearing loss are essential for improving phenotype–genotype correlations. Early identification of the genetic etiology of hearing loss is becoming increasingly important, particularly in light of recent advances in gene therapy for pediatric hearing loss.

Background: Airway management in patients with cervical infections remains a major challenge because progressive swelling and distortion of the upper airway may rapidly lead to life-threatening airway obstruction. Despite advances in imaging and advanced intubation techniques, the optimal management strategy remains controversial. This scoping review aimed to evaluate the current evidence on airway assessment and management of adult patients with cervical infections. Methods: A scoping review was conducted according to the PRISMA-ScR recommendations. PubMed/MEDLINE, Scopus, and Embase were systematically searched for English-language studies published between January 2006 and May 2026. Studies evaluating airway management in adult patients with deep neck infections or acute infectious epiglottitis/supraglottitis were included. Data regarding study characteristics, airway management strategies, predictors of airway intervention, and clinical outcomes were extracted and synthesized descriptively. Results: Fourteen studies involving 3297 patients met the inclusion criteria. Endotracheal intubation was the most frequently reported airway management strategy, while tracheostomy remained essential in selected patients with extensive multispace infections, descending necrotizing mediastinitis, severe airway alteration, or anticipated prolonged airway protection. Clinical signs of respiratory compromise, multispace cervical involvement, mediastinal extension, and significant supraglottic edema were the most consistently reported predictors of airway intervention. Across the included studies, airway management strategies varied considerably according to disease severity, anatomical findings, institutional protocols, and operator experience. Conclusions: Current evidence suggests an individualized, multidisciplinary approach to airway management in adults with life-threatening cervical infections. Timely airway assessment integrating clinical evaluation, flexible endoscopy, and contrast-enhanced computed tomography is essential to guide appropriate airway intervention.

Background/Objectives: Auditory processing disorders (APDs), defined as impaired neural processing of acoustic stimuli despite normal peripheral hearing, often co-occur with neurodevelopmental disorders (NDDs) and may contribute to language, attentional, and learning difficulties. Emerging evidence suggests that shared neurotransmitter systems may represent a common neurobiological substrate underlying these conditions. The aim of this study is to integrate current evidence on glutamatergic, GABAergic, and monoaminergic systems in neurodevelopmental and auditory processing disorders in children and adolescents, and to evaluate the hypothesis that shared neurotransmitter dysregulation may underlie their clinical overlap. Methods: A narrative review of the literature was conducted through electronic searches in PubMed and Embase up to 31 December 2025, using keywords related to neurotransmitters, NDDs and APDs. Results: Available evidence indicates that an imbalance between excitatory glutamatergic and inhibitory GABAergic neurotransmission has been proposed as a central mechanism in NDDs and may also contribute to auditory processing difficulties through altered neural synchrony, sensory gating and temporal auditory coding. Findings collectively suggest the hypothesis of shared neurotransmitter dysregulation across NDDs and APDs. Conclusions: Auditory processing difficulties may represent sensory-level expressions of shared neurochemical vulnerability across neurodevelopmental conditions. Future longitudinal and multimodal studies are needed to clarify causal relationships and to identify clinically useful biomarkers.

Background/Objectives: Conductive hearing loss (CHL) recurrence or persistence after stapes surgery is often due to prosthesis displacement or malfunction, with malleus fixation being a less common cause. While persistent CHL linked to malleus fixation can be managed with appropriate diagnosis and surgical intervention, recurrent CHL cases remain poorly documented. This report describes a rare case of recurrent CHL due to malleus neck fixation, likely secondary to surgical trauma. Case Presentation: A 49-year-old woman underwent bilateral stapedectomy. CHL worsened after two years. CT showed right incus erosion and a left bony bridge. Revision surgery corrected the right side. Left tympanotomy revealed malleus fixation from a prior atticotomy. Removing the bony bridge restored ossicular mobility and hearing, stable at 6 and 12 months. Discussion: Malleus fixation after stapedectomy is rare and often related to congenital anomalies, chronic otitis media, tympanosclerosis, or surgical trauma. Bone dust or fragments from surgery may promote new bone formation, causing delayed fixation. Ossicular fixation can develop postoperatively and may be missed during primary surgery. High-resolution CT aids in diagnosis, especially in revision cases, while intraoperative palpation is key to detecting subtle abnormalities. Treatment options include ossicular mobilization, prosthesis revision, or chain reconstruction, tailored to the fixation’s location and severity. Conclusions: Surgical trauma should be considered a potential cause of recurrent CHL post-stapedectomy. Thorough removal of bone debris through aspiration and irrigation during surgery is essential to minimize this risk and optimize long-term hearing outcomes.

Background/Objectives: Mitochondrial transfer RNA mutations are one of the most important causes of hereditary hearing loss in humans. In most cases, its presentation is bilateral and symmetrical; however, there are numerous cases of single-sided presentation or asymmetrical onset described in the literature that may represent a diagnostic challenge. The aim of this review is to present the evidence of auditory asymmetry in mitochondrial diseases, highlighting the possible presence of cases with atypical presentation. Methods: A review of the English literature to date on hearing loss and mitochondrial diseases was performed using PubMed, Scopus, and Google Scholar databases. The literature review was performed using the Preferred Reporting Items for Systematic Reviews and Meta-analysis (PRISMA) guidelines for scoping review. Results: A total of 10 full-text articles were included in this review, comprising 25 patients with single-sided or asymmetrical hearing loss associated with mitochondrial disease. Conclusions: Sensorineural hearing loss due to mitochondrial disease can represent a complex diagnostic challenge in cases of asymmetric or unilateral presentation. It is critical to recognize this clinical variant and to diagnose it in daily clinical practice.

Background/Objectives: The purpose of this study is to investigate surgical and functional outcomes of patients affected by bilateral vocal cord immobility (BVCI) and treated with posterior cordotomy and partial arytenoidectomy. Methods: We performed a retrospective analysis on pre- and postoperative findings on a series of 27 patients affected by BVCI and treated with posterior cordotomy and partial arytenoidectomy from January 2017 to January 2022. Perceptual voice evaluations were performed using the GRBAS scale. The patients were requested to estimate the level of voice handicap experienced in their life using the Italian version of Voice Handicap Index 10 (VHI 10) questionnaire, while swallowing difficulties were self-evaluated through the Italian version of the Eating Assessment Tool (EAT-10) questionnaire. Results: Respiratory distress was evaluated according to the American Medical Research Council Dyspnoea Scale (MRC_DS) before and 1 year after the surgery. The mean of the preoperative values was 3.86 (±0.4), while 1 year after the procedure, we witnessed a significant (p ≤ 0.001) improvement, with a mean value of 1.09 (±0.9). After surgery, an overall worsening in voice quality was perceived, with a worsening in the GRBAS score. In contrast, the VHI10 does not show a statistically significant worsening. EAT 10 did not demonstrated worse scores after the surgery; rather, it showed a trend of improvement (preoperative EAT10 5.5 ± 5.8, postoperative 3.3 ± 2.9, p = 0.064). Conclusions: According to our results, posterior cordotomy plus partial arytenoidectomy is an effective procedure that provides stable and rapid respiratory improvement whilst preserving swallowing and the self-perception of voice quality.

The aim of this review is to investigate the state of the art among the association between Obstructive sleep apnea (OSA) and laryngomalacia, analyzing the epidemiology, the diagnostic tools, and the possible treatments available to affected patients. Laryngomalacia, characterized by the malacic consistency of the epiglottis with a tendency to collapse during inspiratory acts, producing a characteristic noise known as stridor, is a common condition in infants and particularly in those affected by prematurity, genetic diseases, craniofacial anomalies, and neurological problems. Congenital laryngomalacia, presenting with stridor within the first 15 days of life, is often self-limiting and tends to resolve by 24 months. OSA is not only a consequence of laryngomalacia but also exacerbates and perpetuates the condition. Currently, the treatments reported in the literature are based (i) on medical therapies (including watchful waiting) and (ii) on surgical treatments. Among the surgical techniques, the most described is supraglottoplasty, performed with the use of cold instruments, CO₂ LASER, transoral robotic surgery, or the microdebrider.

This prospective pilot study aimed to evaluate whether cerebral inflow and outflow abnormalities assessed by ultrasonographic examination could be associated with recurrent benign paroxysmal positional vertigo (BPPV). Twenty-four patients with recurrent BPPV, affected by at least two episodes, and diagnosed according to American Academy of Otolaryngology–Head and Neck Surgery (AAO–HNS) criteria, evaluated at our University Hospital, between 1 February 2020 and 30 November 2021, have been included. At the ultrasonographic examination, 22 of 24 patients (92%) reported one or more alterations of the extracranial venous circulation, among those considered for the diagnosis of chronic cerebrospinal venous insufficiency (CCSVI), although none of the studied patients were found to have alterations in the arterial circulation. The present study confirms the presence of alterations of the extracranial venous circulation in recurrent BPPV; these anomalies (such as stenosis, blockages or regurgitation of flow, or abnormal valves, as per the CCSVI) could cause a disruption in the venous inner ear drainage, hampering the inner ear microcirculation and then possibly causing recurrent otolith detachment.