Clinical and Experimental Otorhinolaryngology最新文献

Objectives: The primary objective was to determine which of the following angular insertion depth (AID) estimation methods showed the strongest correlation with the postoperative AID (AIDpostop) of a lateral wall (LW) electrode: the Escudé formula, based on the largest distance from the round window (RW) to the LW (distance A); the elliptic-circular approximation (ECA) method, based on both distance A and the perpendicular distance (distance B); and a three-dimensional (3D) reconstruction method. The secondary objective was to assess the impact of using the actual electrode insertion length on the evaluation of AID estimation methods.

Methods: This study included 45 cochleae implanted with the Advanced Bionics SlimJ electrode, with all 16 active electrode contacts positioned intracochlear. Distance A, distance B, and a 3D reconstruction along the LW were evaluated on preoperative magnetic resonance imaging using 3D Slicer. The AIDpostop and insertion length were assessed using cone-beam computed tomography. Two sets of estimated AID values were obtained: assuming a perfect 23-mm insertion length with the reference electrode at the RW (AID23mm); and using the actual insertion length (AIDinsertionlength). Spearman's rank correlation coefficient was used to assess the association between the estimated AID values and AIDpostop.

Results: A moderately positive correlation was observed between AID23mm and AIDpostop for all three approaches, with no statistically significant differences among them (rs=0.410-0.579). When the analysis was repeated using AIDinsertionlength, the strength of the correlation with AIDpostop increased significantly for all three methods, with the 3D reconstruction method showing a stronger correlation (rs=0.952) than the Escudé formula (rs=0.734) or the ECA method (rs=0.787) (P<0.001).

Conclusion: The 3D reconstruction approach has the potential to improve prediction of the AID for LW electrode arrays compared to spiral formulae based on 2D cochlear dimensions. Accurate assessment of the actual insertion length is important for the proper evaluation of AID estimation methods.

Objectives: Branchio-oto syndrome (BOS) is an autosomal dominant disorder characterized by multiple system anomalies, typically sparing the kidneys. BOS exhibits considerable clinical heterogeneity and ethnic variability; most studies have been conducted in European populations rather than in Asian populations, and its prevalence is approximately 1 in 40,000. EYA1 is the most commonly implicated gene in BOS, with mutations ranging from missense to frameshift, splicing, and nonsense variants. Although splicing mutations are important contributors to the disease, previous research has paid less attention to novel mutations that cause aberrant RNA splicing and their pathogenic mechanisms. Furthermore, reproductive interventions aimed at preventing disease transmission have not been reported.

Methods: We collected samples from a three-generation Chinese family affected by BOS. Whole exome sequencing was used to screen for candidate causative genes. A minigene assay was performed to identify aberrant splicing products, and additional molecular biology techniques were employed to analyze the pathogenicity of the resulting mistranslated proteins. Preimplantation genetic testing (PGT), based on single-nucleotide polymorphism analysis, was utilized to prevent hearing loss in this family.

Results: Whole-exome sequencing identified a novel mutation, EYA1:c.1598-2AG>TA, which was classified as pathogenic according to American College of Medical Genetics and Genomics criteria. The minigene assay verified aberrant RNA splicing that is predicted to result in premature termination of EYA1 protein translation. Cytological experiments demonstrated that the truncated EYA1 protein is unstable, exhibits impaired nuclear translocation, and fails to interact properly with SIX1. PGT enabled the proband to give birth to a healthy boy.

Conclusion: We identified a novel splicing variant in the EYA1 gene and elucidated its potential molecular pathogenic mechanism through several functional experiments. Based on these findings, we successfully implemented PGT to ensure the birth of a healthy offspring free from BOS.

Obstructive sleep apnea (OSA) is a common disorder characterized by recurrent episodes of upper airway obstruction during sleep, resulting in apnea and hypopnea. While anatomical factors, such as increased upper airway collapsibility, significantly contribute to OSA, emerging evidence highlights the importance of non-anatomical mechanisms, including impaired pharyngeal muscle responsiveness, low arousal threshold, and elevated ventilatory loop gain. The interplay of these factors leads to respiratory instability, fragmented sleep, and systemic complications. Additional pathophysiological influences such as obesity, aging, sex differences, and central nervous system dysfunction exacerbate cardiovascular and metabolic comorbidities. Advancements in diagnostic methods, including cephalometry and polysomnography, along with therapies such as continuous positive airway pressure, mandibular advancement devices, and hypoglossal nerve stimulation, underscore the necessity for personalized treatment approaches. Although surgical interventions targeting multi-level airway obstructions show potential for successful treatment, they remain limited by variability in long-term efficacy. A thorough understanding of the multifactorial mechanisms underlying OSA is crucial for improving diagnostic accuracy and tailoring patient-specific management strategies. This review summarizes recent findings, clarifying the complex pathophysiology of OSA and highlighting a multidimensional approach to optimize patient outcomes.

Objectives: This study evaluated behavioral test results and histological findings in murine models of allergic rhinitis (AR), chronic rhinosinusitis (CRS), and drug-induced anosmia, comparing outcomes among groups.

Methods: This study established a total of six animal model groups (n=5 per group): control; ovalbumin (OVA)-induced AR; OVA/polyinosinic-polycytidylic acid (poly[I:C])-induced neutrophil-dominant rhinitis; OVA/Staphylococcus enterotoxin B-induced CRS; and two anosmia models induced by chronic intranasal administration of ZnSO4 and intraperitoneal injection of 3-methylindole (3-MI). Olfactory function was evaluated using an open-field food-finding test and a T-maze test one week after model induction. Behavioral test results were analyzed with video analysis software (EthoVision XT). Immunofluorescent staining was conducted to assess histological changes in olfactory sensory neurons (OSNs) and olfactory basal cells.

Results: In the T-maze test, the OVA and OVA/poly(I:C)-induced rhinitis groups showed increased food-finding time compared with the control and CRS groups. The two anosmia mouse models demonstrated statistically significant differences from all other groups. Food-finding time showed significant positive correlations with two novel variables evaluated in this study: total distance moved and average velocity, in both the open-field and T-maze tests. Histologically, the CRS and two anosmia models exhibited a significant decrease in mature and immature OSNs. Additionally, the two rhinitis groups and the CRS group displayed significant changes in the number of immature OSNs. Changes in the basal cell marker cytokeratin-5 were observed specifically in the 3-MI model.

Conclusion: This study demonstrated significant differences in olfactory function and histological changes among various mouse models of upper airway inflammation and drug-induced anosmia, as assessed by histological analysis and behavioral tests. These findings can serve as a reference for future studies on olfaction using mouse models.

Since the release of ChatGPT, large language models (LLMs) have rapidly expanded into professional domains, including medicine. These models, trained on extensive text corpora, including the medical literature, have demonstrated remarkable capabilities in tasks such as clinical decision support, research assistance, and education. This review focuses on LLM applications in otolaryngology-head and neck surgery (Ear, Nose, and Throat [ENT]). We analyzed 25 studies published between January 2022 and March 2025 in ENT journals ranked in the top 25% (Q1) according to the 2023 Journal Citation Reports. Furthermore, we categorized these studies by use case and systematically examined the models, datasets, and evaluation methods employed. Despite increasing adoption of LLMs in the ENT field, several challenges remain, including limited model diversity, inconsistent evaluation standards, and ongoing issues with accuracy and fairness. We also contextualized LLM research trends within the broader medical domain. Five key areas were identified for advancing clinical-grade LLMs: robust evaluation frameworks, external source-based generation, multimodal integration, agent-based reasoning, and model explainability. Our findings provide ENT clinicians and researchers with a practical foundation for understanding, evaluating, and implementing LLMs or their advanced successors (e.g., large multimodal models, agents) in clinical and research settings.

Objective: Allergic rhinitis (AR) impairs quality of life, and combination therapy is often required for comprehensive symptom control. This study aimed to evaluate the efficacy of montelukast-antihistamine combination therapy compared with antihistamine monotherapy in improving AR symptoms and quality of life.

Methods: PubMed, Embase, MEDLINE, Scopus, the Cochrane Library, and Google Scholar were searched up to April 2025. Eligible studies compared combination therapy with montelukast plus an antihistamine against antihistamine monotherapy and reported nasal symptoms or rhinoconjunctivitis quality of life questionnaire (RQLQ) scores. Standardized mean differences (SMDs) were calculated, and subgroup analyses were conducted according to antihistamine type.

Results: Fifteen studies including 2,882 subjects were analyzed. Combination therapy significantly improved daytime nasal symptoms (SMD [95% CI] = 0.44 [0.21-0.67]), nighttime nasal symptoms (SMD [95% CI] = 0.12 [0.01-0.23]), and RQLQ scores (SMD [95% CI] = 0.14 [0.00-0.27]) compared with monotherapy. Sneezing, nasal obstruction, and rhinorrhea improved significantly, while nasal itching and ocular symptoms did not. Combinations with desloratadine and levocetirizine showed greater benefits than those with loratadine or fexofenadine.

Conclusion: Montelukast-antihistamine combination therapy improves overall symptoms and quality of life compared with antihistamine monotherapy. The magnitude of benefit appears to vary depending on the specific antihistamine used, highlighting the potential value of individualized treatment strategies in the management of AR.

Objectives: The aim of this study was to investigate the auditory and vestibular consequences of congenital cytomegalovirus (cCMV) infection in a C57BL/6 mouse model. This model, established via intraperitoneal inoculation, was designed to mimic clinical phenotypes.

Methods: A cCMV infection model was developed by intraperitoneally inoculating C57BL/6 mice with murine cytomegalovirus. Auditory and vestibular functions were evaluated using auditory brainstem response tests, as well as open field, swim, and rotarod assessments. Histologic analysis of the inner ear was also conducted.

Results: The study successfully established a cCMV infection model in C57BL/6 mice. Auditory deficits of varying severity and laterality were observed, mirroring the clinical spectrum seen in humans. In contrast, vestibular function was minimally affected and did not correlate with auditory deficits. Histopathologic examination revealed predominant damage to spiral ganglion neurons, while the vestibular organs remained relatively intact.

Conclusion: Our optimized mouse model effectively recapitulates the inner ear manifestations of human cCMV infection. The predominance of auditory over vestibular deficits provides valuable insights for developing targeted therapeutic interventions for cCMV-related inner ear sequelae.