Clinical and Experimental Otorhinolaryngology最新文献

{"title":"Synergistic Exacerbation of Allergic Inflammation by Combined Exposure to Air-Pollutants in a Murine Model of Allergic Rhinitis.","authors":"Joo-Hoo Park, Jee Won Moon, Yeong-In Jo, Hwa Eun Yang, Subin Cho, Hyeongguk Son, Hyun-Woo Yang, Dae Jin Song, Il-Ho Park","doi":"10.21053/ceo.2025-00170","DOIUrl":"10.21053/ceo.2025-00170","url":null,"abstract":"<p><strong>Objectives: </strong>Allergic rhinitis (AR) is a chronic inflammation of the nasal mucosa triggered by environmental allergens. Although its pathophysiology has been extensively investigated, the influence of environmental aggravating factors-particularly combined pollutant exposure-remains insufficiently characterized. This study aimed to assess the impact of coexposure to PM2.5, formaldehyde, and Zn on allergic inflammation in a murine AR model and to delineate the associated immunological and histopathological responses.</p><p><strong>Methods: </strong>Female BALB/c mice were sensitized with ovalbumin (OVA) and challenged intranasally to induce AR. On days 21-24, the mice were exposed to PM2.5, formaldehyde, and Zn, either individually or in combination with OVA. Allergic symptoms were evaluated through behavioral observation, while immune responses were assessed by analyzing nasal and bronchoalveolar lavage fluids (NALF and BALF), serum immunoglobulin levels, nasal histopathology, and cytokine profiles.</p><p><strong>Results: </strong>Combined exposure to PM2.5, formaldehyde, and Zn significantly intensified allergic inflammation compared with single exposures. Coexposure to PM2.5 and Zn led to synergistic increases in total and OVA-specific immunoglobulin E levels, eosinophilic infiltration, nasal rubbing, sneezing, and Th2/Th17 cytokine levels in NALF and BALF. Histological analysis demonstrated epithelial thickening and goblet cell hyperplasia after combined exposure. Other combinations, including PM2.5 with formaldehyde, also produced additive or modestly amplified inflammatory responses.</p><p><strong>Conclusion: </strong>Coexposure to PM2.5, formaldehyde, and Zn aggravated allergic inflammation in an OVA-induced murine model, with PM2.5+Zn yielding the strongest synergistic effects. These findings emphasize the role of pollutant-pollutant interactions in allergic airway diseases and highlight the need for further research to clarify long-term health effects and relevance to human disease.</p>","PeriodicalId":10318,"journal":{"name":"Clinical and Experimental Otorhinolaryngology","volume":" ","pages":"86-96"},"PeriodicalIF":2.8,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12973492/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144945239","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Efficacy and Safety of Fat Graft Myringoplasty Combined With Platelet-Rich Plasma for Managing Chronic Tympanic Membrane Perforations: A Systematic Review and Meta-Analysis.","authors":"Yun Jin Kang, Gulnaz Stybayeva, Se Hwan Hwang","doi":"10.21053/ceo.2025-00157","DOIUrl":"10.21053/ceo.2025-00157","url":null,"abstract":"<p><strong>Objectives: </strong>Platelet-rich plasma (PRP) is an autologous product derived from whole blood through the process of gradient density centrifugation. Autologous PRP has been shown to be safe and effective in promoting natural wound healing processes. This study assessed the efficacy of fat graft myringoplasty combined with PRP in tympanic membrane (TM) healing in dry TM perforation due to chronic otitis media and compared it to that of fat graft myringoplasty.</p><p><strong>Methods: </strong>A systematic review and meta-analysis of prospective or retrospective studies was conducted, with database searches (PubMed, Cochrane Library, Embase, Web of Science, Scopus, and Google Scholar) performed through April 2025. The outcomes included the success rate (complete closure of the TM postoperatively) and changes in air-bone conduction gap (ABG) (preoperatively and postoperatively) in the audiogram.</p><p><strong>Results: </strong>Five studies (n=522) were included. Fat myringoplasty with PRP resulted in greater improvement in ABGs (standardized mean difference [SMD], 0.329; 95% CI, 0.132 to 0.527) and higher success rates (odds ratio [OR], 3.129; 95% CI, 1.882 to 5.203) compared to fat myringoplasty alone. In medium-sized perforations, combination therapy demonstrated superior outcomes in both success rate (OR, 3.179; 95% CI, 1.891 to 5.343) and ABG (SMD, 0.357; 95% CI, 0.128 to 0.586). However, no significant differences were observed in cases involving small and medium-sized perforations (success rate: OR, 2.154; 95% CI, 0.174 to 26.672 and changes in ABG: SMD, 0.249; 95% CI, -0.141 to 0.638). Both liquid and gel PRP significantly improved ABGs and TM closure rates, with no significant difference between types.</p><p><strong>Conclusion: </strong>This study demonstrated a higher success rate and greater hearing improvement with PRP-assisted fat myringoplasty, especially in medium-sized perforations. Both liquid and gel PRP forms were effective, with no significant difference between them.</p>","PeriodicalId":10318,"journal":{"name":"Clinical and Experimental Otorhinolaryngology","volume":" ","pages":"70-78"},"PeriodicalIF":2.8,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12973491/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144834298","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Activation of the Gamma-Aminobutyric Acid (GABA)ergic Neural Circuit in Salicylate-Induced Tinnitus: the Inferior Colliculus to the Medial Geniculate Body.","authors":"Xu-Yuan Peng, Jiang Wang, Ming-Yue Gong, Li-Yuan Zhang, Min Zhang, Zhi-Bin Chen, Zheng-Quan Tang, Lei Cheng","doi":"10.21053/ceo.2025-00027","DOIUrl":"10.21053/ceo.2025-00027","url":null,"abstract":"<p><strong>Objectives: </strong>This study aimed to investigate the regulatory functions of gamma-aminobutyric acid (GABA)ergic neural circuits from the inferior colliculus (IC) to the medial geniculate body (MGB) in salicylate-induced tinnitus.</p><p><strong>Methods: </strong>Mice were treated with salicylate to induce tinnitus, and tinnitus-like behaviors were evaluated via gap prepulse inhibition of acoustic startle. Using combined viral tracing methodologies, we identified and mapped the pathways and connections from the IC to the MGB. Furthermore, we employed Gq-coupled human M3 designer receptors exclusively activated by designer drugs (DREADDs) and Gi-coupled human M4 DREADDs to achieve targeted excitation or suppression of GABAergic neurons in the IC and MGB. Following the administration of clozapine N-oxide, which binds to these receptors, we modulated these neural circuits to assess their impact on tinnitus severity in a mouse model.</p><p><strong>Results: </strong>Our findings demonstrated that mice exposed to salicylate exhibited tinnitus-like behaviors. GABAergic neurons projecting retrogradely from the MGB to the IC were primarily concentrated in the external nucleus of the IC. After clozapine N-oxide administration, chemogenetic activation of IC-MGB GABAergic neurons aggravated salicylate-induced tinnitus. Additionally, activation of GABAergic neurons between the IC and MGB induced the perception of tinnitus even without salicylate. However, chemogenetic inhibition of the IC-MGB GABAergic circuit did not reverse salicylate-induced tinnitus.</p><p><strong>Conclusion: </strong>These findings suggest that activation of the IC-MGB GABAergic neural circuit may contribute to tinnitus generation through a mechanism distinct from that of salicylate-induced tinnitus. This study provides novel insights into the mechanisms underlying tinnitus.</p>","PeriodicalId":10318,"journal":{"name":"Clinical and Experimental Otorhinolaryngology","volume":" ","pages":"55-69"},"PeriodicalIF":2.8,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12973495/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144583239","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Single-Port Hairline Approach Thyroidectomy in Male Patients: A Retrospective Analysis of Cosmetic and Surgical Outcomes.","authors":"Ji Won Kim, Myung Woul Han","doi":"10.21053/ceo.2025-00098","DOIUrl":"10.21053/ceo.2025-00098","url":null,"abstract":"<p><strong>Objectives: </strong>Although concerns regarding visible scars have traditionally been associated with female patients, male patients are increasingly placing value on cosmetic outcomes in surgical procedures. Single-port robotic thyroidectomy utilizing a hairline approach has proven feasible in female patients. This study aims to evaluate the safety, utility, and cosmetic results of single-port hairline approach thyroidectomy (SPHAT), with a focus on minimizing visible scarring in male patients.</p><p><strong>Methods: </strong>Thirty-one male patients underwent SPHAT performed by a single surgeon between February 2020 and February 2024. We analyzed operative time, complication rates, pain scores (numeric rating scale [NRS]), and cosmetic outcomes in these male patients.</p><p><strong>Results: </strong>Among the cases, 27 were diagnosed with papillary thyroid carcinoma, 1 with follicular thyroid carcinoma, 2 with non-invasive follicular neoplasms exhibiting papillary-like nuclear features, and 1 with follicular adenoma. The median age of patients was 62 years (range, 34-73 years). Hemithyroidectomy was conducted in 28 cases and total thyroidectomy in 3 cases. Central neck dissection was performed in 26 cases. The median total operative time was 89 minutes (range, 55-160 minutes), with a median console time of 49 minutes (range, 26-125 minutes). All patients were discharged without major complications on the second or third postoperative day. Postoperative pain NRS scores were 3.71±1.56 on the day of surgery and 2.86±0.35 on the first postoperative day. Six months after surgery, the mean cosmetic satisfaction score on a visual analog scale was 8.51±1.62.</p><p><strong>Conclusion: </strong>SPHAT is a viable and safe approach for male patients, offering excellent cosmetic.</p><p><strong>Results: </strong></p>","PeriodicalId":10318,"journal":{"name":"Clinical and Experimental Otorhinolaryngology","volume":" ","pages":"361-366"},"PeriodicalIF":3.4,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12588049/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144526576","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical Application and Limitations of a Digitalized Olfactory Function Test Including Threshold, Discrimination, and Identification Subsets.","authors":"Hae Ryong Lee, Il-Youp Kwak, Kyung Soo Kim, Hyun Jin Min","doi":"10.21053/ceo.2024.00383","DOIUrl":"10.21053/ceo.2024.00383","url":null,"abstract":"","PeriodicalId":10318,"journal":{"name":"Clinical and Experimental Otorhinolaryngology","volume":" ","pages":"367-370"},"PeriodicalIF":3.4,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12582856/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143555971","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Insights Into Responses to Caloric and Head Impulse Stimulation in Lateral Semicircular Canal Benign Paroxysmal Positional Vertigo.","authors":"Seong Hoon Bae, Sang Hyun Kwak, Jeon Mi Lee, Ji Hyuk Han, Dae Bo Shim, Sung Huhn Kim","doi":"10.21053/ceo.2024-00365","DOIUrl":"10.21053/ceo.2024-00365","url":null,"abstract":"<p><strong>Objectives: </strong>The aim of this study was to investigate the pathophysiology of persistent geotropic direction-changing positional nystagmus (pGeo DCPN) by analyzing caloric responses and the clinical course in patients with pGeo DCPN and other variants of lateral semicircular canal benign paroxysmal positional vertigo (LSCC BPPV).</p><p><strong>Methods: </strong>In this prospective case-control study, 101 patients diagnosed with pGeo DCPN (pGeo group, n=34), persistent apogeotropic (pApo) DCPN (pApo group, n=40), or transient geotropic (tGeo) DCPN (tGeo group, n=27) involving the LSCC were enrolled. The video head impulse test (vHIT) and caloric test were performed at diagnosis. If one or both tests were abnormal, follow-up testing was conducted after nystagmus resolution. Differences in test.</p><p><strong>Results: </strong>and clinical courses among the LSCC BPPV types were analyzed and compared.</p><p><strong>Results: </strong>The mean disease duration was significantly longer in patients with pGeo (23.0 days) than those with pApo (8.0 days) and tGeo (9.0 days) (P<0.005). All patients demonstrated normal vHIT gain. The pGeo group showed the highest canal paresis (CP) value (vs. pApo: P=0.002; vs. tGeo: P<0.001) and a higher frequency of abnormal CP (61.8%) than the pApo (22.5%) and tGeo (11.1%) groups. CP was predominantly ipsilesional (85.7%) in the pGeo group. Follow-up caloric tests indicated decreased CP in 72.7% of pGeo patients, with normalization in 36.4% following the disappearance of nystagmus.</p><p><strong>Conclusion: </strong>The clinical course, caloric tests, and vHIT.</p><p><strong>Results: </strong>indicate distinct pathophysiological mechanisms for different LSCC BPPV types. Cupular deflection due to buoyancy in pGeo DCPN plausibly leads to CP while preserving vHIT integrity.</p>","PeriodicalId":10318,"journal":{"name":"Clinical and Experimental Otorhinolaryngology","volume":" ","pages":"318-325"},"PeriodicalIF":3.4,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12588052/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143968174","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Co-occurrence of Otologic Disorders and Benign Paroxysmal Positional Vertigo: A Systematic Review and Meta-Analysis.","authors":"Mustafa Karabulut, Sevgi Kutlu, Wolfgang Viechtbauer, Ali Melliti, Cem Meço, Alfarghal Mohamad, Osman Nuri Özgirgin, Anita Bhandari, Herman Kingma, Raymond van de Berg","doi":"10.21053/ceo.2025-00030","DOIUrl":"10.21053/ceo.2025-00030","url":null,"abstract":"<p><strong>Objectives: </strong>This systematic review was performed to investigate the co-occurrence of otologic disorders and benign paroxysmal positional vertigo (BPPV).</p><p><strong>Methods: </strong>Searches were conducted in PubMed and Web of Science. The review included all original English-language studies-ranging from full-text clinical trials to case reports-enrolling participants aged ≥18 years. Articles were classified into two groups: group 1 comprised studies reporting otologic disorders in patients diagnosed with BPPV; group 2 comprised studies reporting instances of BPPV among patients with otologic disorders. The frequency of each condition was analyzed using descriptive statistics. Meta-analyses were performed using a random-effects model to estimate overall prevalence in both groups.</p><p><strong>Results: </strong>The initial search yielded 3,407 records, of which 68 articles were included in the analysis. In group 1 (19 studies), 11.4% of patients with BPPV (932/8,157) had co-occurring otologic disorders. Sudden sensorineural hearing loss (present in 11.9% of patients in relevant included studies) and acute unilateral vestibulopathy/vestibular neuritis (5.0%) were most frequently reported. Meta-analysis produced pooled prevalence rates of 11.8% (95% CI, 3.1%-35.7%) for sudden sensorineural hearing loss and 6.5% (95% CI, 3.7%-11.2%) for acute unilateral vestibulopathy/vestibular neuritis. In group 2 (49 studies), 9.7% of patients with otologic disorders (1,106/11,457) experienced concurrent BPPV, with Menière's disease exhibiting the highest rate of concurrence (10.2%). Meta-analyses showed pooled prevalence rates of 10.4% (95% CI, 6.2%-16.8%) for acute unilateral vestibulopathy/vestibular neuritis and 9.1% (95% CI, 4%-19.1%) for Menière's disease.</p><p><strong>Conclusion: </strong>The co-occurrence of otologic disorders and BPPV is prevalent. These findings underscore the need for mutual clinical screening and may inform understanding of the etiologies underlying BPPV.</p>","PeriodicalId":10318,"journal":{"name":"Clinical and Experimental Otorhinolaryngology","volume":" ","pages":"326-338"},"PeriodicalIF":3.4,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12588055/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144246678","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Estimation of Angular Insertion Depth of a Cochlear Implant Electrode Array: Three-Dimensional Reconstruction Versus Spiral Formulae.","authors":"Irumee Pai, Aditi Shetty, Gowri Pradeep, Charalampos Komninos, Christos Bergeles, Sebastien Ourselin, Steve Connor","doi":"10.21053/ceo.2025-00043","DOIUrl":"10.21053/ceo.2025-00043","url":null,"abstract":"<p><strong>Objectives: </strong>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.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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).</p><p><strong>Conclusion: </strong>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.</p>","PeriodicalId":10318,"journal":{"name":"Clinical and Experimental Otorhinolaryngology","volume":" ","pages":"339-348"},"PeriodicalIF":3.4,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12588051/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144494990","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Novel EYA1 Splicing Mutation in a Chinese Family With Branchio-Oto Syndrome: A Functional Analysis and Reproductive Intervention.","authors":"Anhai Chen, Lu Jiang, Zequn Nie, Jian Song, Chufeng He, Lingyun Mei, Yalan Liu","doi":"10.21053/ceo.2024.00304","DOIUrl":"10.21053/ceo.2024.00304","url":null,"abstract":"<p><strong>Objectives: </strong>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.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusion: </strong>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.</p>","PeriodicalId":10318,"journal":{"name":"Clinical and Experimental Otorhinolaryngology","volume":" ","pages":"306-317"},"PeriodicalIF":3.4,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12582857/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143078610","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Mechanisms and Management of Obstructive Sleep Apnea: A Translational Overview.","authors":"Yun Jin Kang, Chan-Soon Park","doi":"10.21053/ceo.2025-00071","DOIUrl":"10.21053/ceo.2025-00071","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":10318,"journal":{"name":"Clinical and Experimental Otorhinolaryngology","volume":" ","pages":"296-305"},"PeriodicalIF":3.4,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12588053/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144198389","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}