Search Results (197)

Background/Objectives: Achondroplasia is linked to distinctive ear–nose–throat (ENT) morbidity, yet quantitative age-structured profiles and actionable correlates remain incompletely defined. This study mapped ENT phenotypes in a consecutive cohort and examined the achondroplasia subset for prevalence, co-occurrence, age dynamics, and parsimonious risk models. Methods: Retrospective observational analysis (1 February 2023–31 January 2025). Narrative “ENT complications” were dictionary-mapped to five non-exclusive categories: otitis media, adenotonsillar/apnea—obstructive sleep apnea (OSA), audiologic/Eustachian-tube dysfunction (ETD), nasopharyngeal/upper-respiratory (URT), and extra-ENT. Proportions used Wilson 95% confidence intervals (CIs). Pairwise associations used Fisher’s exact tests with Benjamini–Hochberg false discovery rate (BH-FDR). Age was summarized by a four-level age-class schema (AC-4: 0–2, 3–5, 6–12, ≥13 years) and a two-level sensitivity contrast (AC-2: ≤5 vs. >5 years). Results: Of 83 patients, 64 (77.1%) had achondroplasia. In achondroplasia, otitis media occurred in 51.6% and OSA in 28.1%; versus non-achondroplasia, ARDs were +35.8 and +28.1 percentage points (BH-FDR adjusted). Within achondroplasia, otitis media co-occurred with OSA (odds ratio [OR] 4.97; q = 0.012) and with ETD (OR 7.25; q = 0.012). OSA increased across AC-4 to school age (p-trend = 0.0548). In parsimonious models, otitis media independently predicted ETD and OSA. A five-item ENT-burden score discriminated otologic and adeno-tonsillar interventions (AUC 0.83–0.93). Conclusions: Achondroplasia shows a concentrated ENT burden dominated by otitis media and OSA, with large adjusted absolute differences versus non-achondroplasia. Otitis media functions as a practical clinical marker for both OSA and ETD, while a compact burden score may assist intervention triage. Full article

Background: Aural fullness is a common symptom in routine otolaryngological practice. Although it is most commonly attributed to cerumen impaction, other, less frequent conditions may present similar symptoms and are often initially misdiagnosed as cerumen. These include keratosis obturans (KO) and external auditory canal cholesteatoma (EACC). Accurate differentiation among these entities is crucial for appropriate management. These distinctions are crucial for appropriate management. Methods: We retrospectively reviewed 100 patients who presented with a chief complaint of aural fullness from 2021 to 2025. All patients underwent microscopic and/or micro/endoscopic otologic evaluation and were subsequently treated with outpatient otologic procedures. These procedures ranged from simple cerumen removal for CI cases to aural toilettage of the external auditory canal for KO and initial debridement attempts for EACC. Results: Among 100 patients, 87 were diagnosed with CI, 10 were diagnosed with KO, and 3 were diagnosed with EACC. In 97 patients, outpatient microscopic management was effective and successful, leading to the complete removal of the underlying condition and resolution of the ear fullness. In the remaining 3 cases—all diagnosed with EACC—microscopic outpatient debridement was not sufficient. These patients were subsequently scheduled for surgical intervention following audiological and temporal bone CT evaluations. Conclusions: Our findings confirm that CI is the most frequent cause of aural fullness and that microscopic outpatient removal represents an excellent standard of care. However, clinicians should remain aware that KO and EACC may present similar symptoms. Their management is often more complex, potentially requiring multiple sessions and, in the case of EACC, can necessitate surgical intervention. Accurate diagnosis is, therefore, essential to ensure effective and appropriate treatment. Full article

Background/Objectives: Cochlear implantation (CI) has been shown to be effective in children with inner ear malformations (IEMs). However, outcomes vary with malformation type and anatomical complexity. Advances in radiological classification may improve the understanding of such variability to better guide patient counseling. We aimed to assess one-year post-implant auditory outcomes in children with IEMs using radiology-based classifications, and to explore genetic and perinatal predictors. We also propose a preliminary severity score derived from the INCAV system. Methods: Out of 303 pediatric CI recipients assessed at a tertiary center, we retrospectively analyzed 41 children (82 ears) diagnosed with IEMs. Malformations were categorized with the Sennaroğlu system and re-coded using INCAV, from which a severity score was derived. Postoperative outcomes were assessed in 56 implanted ears, including pure-tone average (PTA), word recognition score (WRS), and post-surgical complications. Statistical analyses included Spearman’s correlation, linear regression, and exploratory discriminant MANOVA. Results: The most frequent malformation was enlarged vestibular aqueduct (33%), followed by incomplete partition type II (22%). CI was performed in 56 malformed ears with a complication rate of 10.7%. PTA and WRS correlated with the INCAV-derived severity score, with higher severity linked to poorer thresholds and lower WRS. Linear regression showed severity explained ~20% of PTA variance, with outcomes more frequently impaired in ears with scores > 3. Exploratory analysis revealed inter-subject variability, with partial separation of mild versus moderate/severe groups mainly driven by PTA and WRS. Conclusions: CI in pediatric IEMs is safe and consistently improves hearing thresholds. PTA was the most robust predictor of performance, while the INCAV-derived severity score, though exploratory, may provide additional value for anatomical stratification, prognostic counseling, and rehabilitation planning. Full article

Background/Objectives: Headache attributed to rhinosinusitis (HRS) is uncommon in children but often misdiagnosed as migraine or tension-type headache (TTH). Overlapping phenotypes, incidental sinus findings on neuroimaging, and limited communication in younger patients complicate diagnosis and lead to inappropriate treatment. Methods: We retrospectively analyzed 3065 pediatric patients (<19 years) presenting with headache at two tertiary neurology clinics (2014–2023) with ≥1 year follow-up. Headaches were classified by ICHD-3 criteria. HRS diagnosis required radiologic sinus pathology and ≥50% improvement within 72 h of antibiotic or decongestant therapy. Demographic, clinical, neuroimaging, and family history data were collected. Symptom profiling used principal component analysis (PCA) and k-means clustering; multivariate logistic regression identified independent predictors. Results: Of 3065 patients, 32.7% had migraines, 15.5% TTH, and 4.5% HRS. Nearly one-third of HRS cases were initially misclassified. Compared with migraine and TTH, HRS patients were younger (median 9 years), more often male, and enriched in preschool age. Independent predictors included shorter duration (<1 h; OR 0.62), higher intensity (OR 2.165), nasal symptoms (OR 9.836), hearing impairment (OR 22.52), allergic rhinitis (OR 8.468), and family history of HRS (OR 32.602) (all p < 0.001). PCA showed overlap but distinct clustering: HRS was characterized by sinonasal and otologic features, whereas migraine clustered around sensory hypersensitivity. Conclusions: Pediatric HRS shows distinct predictors—young age, acute severe headache, nasal and auditory symptoms, allergic history, and family history—despite overlap with migraine and TTH. Structured use of these predictors with otolaryngologic assessment may improve diagnostic accuracy, reduce misclassification, and avoid unnecessary neuroimaging or inappropriate therapy. Full article

Von Hippel–Lindau disease-associated endolymphatic sac tumors (VHL-associated ELSTs) present diagnostic challenges due to their rarity and nonspecific symptoms. This study describes clinical, pathological and genotypic features to guide treatment. We retrospectively analyzed seven patients with VHL-associated ELSTs. The mean age of otologic symptom [hearing loss (100%) and facial nerve paralysis (85.71%)] onset was 22.43 ± 8.68 years (range: 10–33). Surgical management included trans-labyrinthine and subtotal temporal bone resection approaches. Among three patients with severe preoperative facial nerve dysfunction, two underwent great auricular nerve grafting improved to House–Brackmann grade IV, while one receiving hypoglossal–facial nerve anastomosis reached grade V. Genetic testing identified pathogenic VHL gene missense mutations in three patients. Two female patients demonstrated disease progression during pregnancy. Literature analysis revealed exon-specific patterns: Exon 1 mutations correlated with cerebellar/spinal hemangioblastomas in female patients, while Exon 3 mutations were associated with multisystem tumors. These findings support that VHL-associated ELSTs manifest early with otologic symptoms and demonstrate exon-specific phenotypic patterns. Optimal management requires complete surgical resection, genetic diagnosis, and a multidisciplinary approach to address these complex tumors and achieve favorable outcomes. Full article

Objectives: The middle cranial fossa (MCF) approach is valued for preserving hearing while accessing the internal auditory canal (IAC), petrous apex, inner ear, and related structures. This study evaluated its clinical outcomes across otolaryngological diseases, focusing on postoperative complications, hearing preservation, and the effect of IAC manipulation on auditory function. Methods: We retrospectively analyzed 35 patients who underwent MCF otologic surgery at a single center over twelve years. We calculated the proportion of MCF cases among all otologic surgeries and assessed postoperative complications and hearing changes (bone conduction thresholds). Outcomes were compared between patients with and without IAC manipulation. Results: MCF procedures comprised 1.4% of all otologic surgeries. Petrous bone cholesteatoma was the leading indication (15 cases). Intracranial complications occurred in 4 patients (11.4%): seizures, epidural abscess, and cerebral infarction. Facial nerve paralysis occurred in 3 (10.7%) patients without any cerebrospinal fluid leaks. In patients without IAC manipulation, hearing functions were preserved (22.3 ± 7.8 dB HL pre- vs. 25.7 ± 9.5 dB HL postoperatively), whereas those with IAC manipulation showed significantly greater deterioration. Conclusions: The middle cranial fossa approach, though technically demanding and infrequently used, offers a safe and effective option across various otolaryngological diseases. This approach achieved favorable hearing preservation with a low complication rate, particularly when intradural manipulation of the IAC was not required. Full article

Background: Acute otomastoiditis (AOM) may occasionally progress to severe intracranial complications in children. While immunological and microbiological factors have been studied, the role of temporal bone anatomical variants remains less well-defined. The aim of this study is to investigate the prevalence of anatomical variants in pediatric patients with acute complicated otomastoiditis (ACOM) compared to those with uncomplicated ones (AUOM) and healthy controls (HC) and assess their potential association with intracranial complication patterns. Methods: This retrospective, single-center study reviewed clinical and neuroradiological data of patients aged 0–16 years admitted for AOM between 2018 and 2025. ACOM patients were compared to AUOM and HC groups (the latter undergoing neuroimaging for minor head trauma). Two experienced neuroradiologists evaluated imaging to identify anatomical variants involving the following: (1) sigmoid sinus and emissary veins; (2) tegmen tympani; and (3) mastoid pneumatization. Statistical analyses assessed prevalence differences across groups. Results: Among 282 AOM patients, 58 had intracranial complications. Anatomical variants were significantly more frequent in ACOM patients versus both AUOM and HC (p < 0.01). In this subgroup, vascular anatomical variants were notably associated with vascular or combined (vascular and infectious) complications; tegmen tympani and mastoid pneumatization variants showed no significant subgroup associations. Conclusion: Anatomical variants, particularly vascular anomalies of the sigmoid sinus and emissary veins, appear to increase pediatric AOM patients’ susceptibility to intracranial complications. Recognition of these configurations through early neuroimaging could aid risk stratification and improve diagnostic and therapeutic strategies. Full article

Background/Objectives: Meningitis is a life-threatening condition often associated with ear pathology. This narrative review explores the critical role of the ear in Meningitis, emphasizing neuroimaging findings. Methods: Congenital malformations of the inner ear may significantly increase the risk of recurrent Meningitis, especially in children. Otomastoiditis, through direct extension or bony erosion, is a frequent cause of otogenic Meningitis. Cholesteatoma can erode bone and lead to severe intracranial complications, including Meningitis. Imaging is essential for early detection of bone defects, intracranial extension, and associated complications. Labyrinthitis and vestibulocochlear neuritis are usually complications of Meningitis. Less frequently, Meningitis may follow ear surgeries, such as cochlear implantation or mastoidectomy. Conclusions: Neuroradiologists must be aware of ear conditions associated with Meningitis to enable prompt diagnosis and correct management. Full article

Otofaciocervical syndrome (OTFCS) is a rare disorder characterized by facial, auditory, and shoulder girdle anomalies. Its significant phenotypic overlap with branchiootorenal spectrum disorders (BORSD)—both linked to EYA1 (EYA transcriptional coactivator and phosphatase 1) gene defects—has raised questions about whether they are distinct entities or part of a single clinical spectrum. We report a novel OTFCS patient with a de novo microdeletion spanning EYA1 and review all published cases of EYA1-related disorders. Our analysis reveals that all EYA1 variant types (truncating, missense, CNV, etc.) can cause BORSD, OTFCS, or hybrid phenotypes, firmly supporting their status as allelic disorders. Crucially, all reported OTFCS patients with EYA1 variants had renal anomalies, a feature previously considered a hallmark of BORSD. We conclude that BORSD and OTFCS constitute a single EYA1-related diagnostic continuum. This reclassification mandates the development of follow-up protocols that integrate renal, otologic, and skeletal surveillance in EYA1-related disorders, including OTFCS, and refines prognostic and genetic counseling. Full article

Background: Stapes prostheses represent one of the earliest and most widely applied “biomedical actuators” designed to restore hearing in patients with otosclerosis. Unlike conventional actuators, which convert energy into motion, stapes prostheses function as passive or smart micro-actuators, transmitting and modulating acoustic energy through the ossicular chain. Objective: This paper provides a comprehensive analysis of stapes prostheses from an engineering and biomedical perspective, emphasizing design principles, materials science, and recent innovations in smart actuators based on shape-memory alloys combined with surgical applicability. Methods: A narrative review of the evolution of stapes prostheses was consolidated by institutional surgical experience. Comparative evaluation focused on materials (Teflon, Fluoroplastic, Titanium, Nitinol) and design solutions (manual crimping, clip-on, heat-activated prostheses). Special attention was given to endoscopic stapes surgery, which highlights the ergonomic and functional requirements of new device designs. Results: Traditional fluoroplastic and titanium pistons provide reliable sound conduction but require manual crimping, with a higher risk of incus necrosis and displacement. Innovative prostheses, particularly those manufactured from nitinol, act as self-crimping actuators activated by heat, improving coupling precision and reducing surgical trauma. Emerging designs, including bucket-handle and malleus pistons, expand applicability to complex or revision cases. Advances in additive manufacturing and middle ear cement fixation offer opportunities for customized, patient-specific actuators. Conclusions: Stapes prostheses have evolved from simple passive pistons to innovative biomedical actuators exploiting shape-memory and biocompatible materials. Future developments in stapes prosthesis design are closely linked to 3D printing technologies. These developments have the potential to enhance acoustic performance, durability, and patient outcomes, thereby bridging the gap between otologic surgery and biomedical engineering. Full article

Background/Objectives: Cholesteatoma is a destructive middle ear pathology that can cause chronic infection, ossicular erosion, and hearing loss. While surgical excision is the standard treatment, recurrence remains a major clinical challenge, and comprehensive data on long-term outcomes are limited. This meta-analysis evaluated cholesteatoma recurrence rates following surgery, identified clinical and surgical predictors of recurrence, and assessed trends across follow-up durations, techniques, and patient demographics. Methods: We searched PubMed, Scopus, Web of Science, CENTRAL, and Google Scholar for relevant studies (CRD42024550351). Studies reporting postoperative recurrence were included. Data on demographics, surgical approach, cholesteatoma type, and outcomes were extracted. Risk of bias was assessed using the Newcastle–Ottawa Scale. Pooled recurrence rates were calculated using random-effects models, and subgroup and meta-regression analyses were performed to identify predictors. Results: Eighty-four studies comprising 12,819 patients were included. The cholesteatoma recurrence rate showed geographic variability. Recurrence was higher in children (13%) than adults (10%), and in acquired (12%) versus congenital (7%) cholesteatoma. Advanced-stage disease, left-sided lesions, and revision surgeries increased recurrence risk. Canal wall down had lower recurrence (7%) than canal wall up techniques (16%). Adjuncts such as mastoid obliteration, ossicular reconstruction, and planned second-look surgeries reduced recurrence. Cumulative recurrence reached 39% at 15 years and 33% at 25 years. Meta-regression identified age, staged procedures, and second-look surgeries as independent predictors. Conclusions: Cholesteatoma recurrence is influenced by age, surgical approach, and disease severity. CWD procedures and comprehensive surgical planning reduce recurrence risk. Long-term follow-up and standardized outcome definitions are essential to improve monitoring and disease control. Full article

Canine Otitis Externa (COE) is a challenging otological disorder in dogs which causes significant irritation and discomfort. This comprehensive review provides an extensive analysis of COE with emphasis on the fundamentals of the condition, starting with the basic anatomy of the canine external ear canal, followed by pathophysiology and diagnosis of COE. Furthermore, novel therapeutic interventions, formulation considerations, and challenges, with the perspective of future directions in the field of COE management, are described. Diagnostic models, including clinical examination, cytology, and susceptibility tests, are presented to provide an overview of the processes involved in detecting and selecting appropriate therapies for the management of COE. Moreover, this paper describes the limitations of current therapies with considerations for the selection of alternative novel treatments such as aromatherapy, acupuncture, bacteriophages, nutraceuticals, and nanomedicines. This review places particular emphasis on the pharmaceutical formulation of topical products used for COE treatment. Various factors, including osmotic pressure, safety profile, viscosity, bioadhesion, and formulation pH, must be considered when developing topical preparations. These parameters are critical in formulation development to enhance therapeutic outcomes and minimise potential side effects. Finally, potential advancements in COE management are highlighted, including the integration of microbial genomics and the significance of managing the microbiota. Overall, this review serves as a valuable resource for those interested in the future of topical treatment of COE by providing a deep understanding of diagnostic, therapeutic, and medical interventions for effective management. Full article

Dysferlin direct protein–protein interactions (PPI) previously have been elucidated with surface plasmon resonance (SPR) and predicted to underlie membrane repair in mechanotransducing myofibrils. In mechanotransducing inner ear hair cells, dysferlin is detected with Z-stack confocal immunofluorescence in the stereocilia and their inserts in the tectorial membrane (TM) co-localizing with FKBP8, consistent with the SPR determination of tight, positively Ca²⁺-dependent interaction. FKBP8, a direct binding partner of mechanotransducing TMC1, when overexpressed, evokes an elevation in anti-apoptotic BCL2, inhibition of ryanodine receptor (RYR) activity, and a consequent reduction in Ca²⁺ release. RYR3 has now been immunolocalized to the tip of the TM in close association with a third-row outer hair cell (OHC) stereociliary BCL2-positive insertion. Dysferlin, annexin A2, and Alzheimer’s proteins BACE1 and amyloid precursor protein (APP) are also accumulated in these stereociliary insertions. RYR2 and RYR1 have been immunolocalized to the TM core, in position to influence TM Ca²⁺. Dysferlin PPI pathways also intersect with AD protein pathways in the spiral ganglion (SG). Dysferlin segregates with FKBP8, BACE1, and RYR3 in the interiors of SG type I cell bodies. RYR1, RYR2, PSEN1, BCL2, and caspase 3 are primarily confined to plasma membrane sites. RYR3 pathways traverse the plasma membrane to the cell body interior. Western analysis of dysferlinopathy proteins links FKBP8 and BCL2 overexpression with RYR inhibition, indicative of dysferlin targets that are ameliorative in AD. Full article

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. Full article

Background/Objectives: This study aimed to evaluate factors necessitating alternative techniques during cochlear implant (CI) surgery and to compare outcomes with standard procedures. Methods: Patients of all ages who underwent CI at our center between January 2003 and January 2024 were included. Alternative methods were defined as removal of external auditory canal/posterior canal wall, removal of ossicles to enhance surgical view, use of an endoscope for round window visualization, or similar approaches. Results: A total of 404 patients (mean age 13 ± 19.7 years) were analyzed. Preoperative imaging revealed inner ear anomalies in 44 patients (10.9%). Alternative methods were used in 41 patients (10.1%), including incus removal (n = 16), endoscopic assistance (n = 14), posterior canal wall removal (n = 4), incus buttress removal (n = 3), combined ossicle removal (n = 3), and one canal wall down mastoidectomy with fat graft obliteration and blind pouch closure. Alternative methods were significantly more frequent in patients with inner ear anomalies or additional otologic disease (p = 0.01 and p < 0.01, respectively), but not across age groups (p = 0.65). Partial electrode insertion occurred in 17 cases. Electrode insertion and complication rates were comparable between groups (p = 0.08 and p = 0.99, respectively). Bony cochleostomy was significantly more common in the alternative methods group (p = 0.01). Conclusions: Inner ear anomalies and additional otologic diseases may necessitate alternative CI techniques. These methods achieve electrode insertion and complication rates comparable to standard approaches, supporting their effectiveness in selected cases. Full article