Clinical and Experimental Otorhinolaryngology最新文献

{"title":"Video Head Impulse Test Coherence Predicts Vertigo Recovery in Sudden Sensorineural Hearing Loss with Vertigo.","authors":"Sheng-Chiao Lin, Ming-Yee Lin, Bor-Hwang Kang, Yaoh-Shiang Lin, Yu-Hsi Liu, Chi-Yuan Yin, Po-Shing Lin, Che-Wei Lin","doi":"10.21053/ceo.2024.00068","DOIUrl":"https://doi.org/10.21053/ceo.2024.00068","url":null,"abstract":"<p><strong>Objective: </strong>The labyrinthitis poses inferior quality of life with prolonged vestibular symptoms in patients with sudden sensorineural hearing loss with vertigo (SSNHLV). This study utilized a novel coherence analysis in video head impulse test (vHIT) to investigate vertigo outcomes in SSNHLV patients.</p><p><strong>Methods: </strong>A retrospective review included 48 SSNHLV patients completing high-dose steroid treatment between December 2016 and April 2023, and 38 healthy volunteers were prospectively enrolled between November 2022 and April 2023 in our academic tertiary referral center. Magnitude-squared wavelet coherence was measured between eye and head velocities in vHIT to represent the degree of correlation across different frequency bands. Vertigo recovery, assessed by visual analog scale equal to zero at 2 weeks and 2 months, was analyzed using a multivariable Cox regression model.</p><p><strong>Results: </strong>The VAS among patients with SSNHLV was 5.73 ± 2.45 (mean ± standard deviation). Higher coherent frequencies in the horizontal semicircular canal (SCC), posterior SCC, mean, and minimal coherent frequencies of all three SCCs combined were significantly associated with early complete vertigo remission at two weeks post-treatment. In the multivariate analysis, the minimal coherent frequency among the three SCCs emerged as an independent factor (hazard ratio [HR] 2.040, 95% confidence interval [CI] 1.776-2.304). At two months post-treatment, in addition to the previously significant parameters, vestibulo-ocular reflex (VOR) abnormality in the posterior SCC, gains in the horizontal and posterior SCCs, total and overt saccades in the horizontal SCC, coherent frequency in the anterior SCC, and mean VOR gain of all three SCCs combined were also statistically significantly related to total vertigo relief.</p><p><strong>Conclusion: </strong>The greater minimal coherent frequency among the three SCCs was a strong factor contributing to earlier relief of vertigo in patients with SSNHLV. Coherence analysis in vHIT may be more sensitive than time series analysis for evaluating vertigo prognosis prediction.</p>","PeriodicalId":10318,"journal":{"name":"Clinical and Experimental Otorhinolaryngology","volume":" ","pages":""},"PeriodicalIF":2.9,"publicationDate":"2024-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142582106","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Long-term Assessment of Speech and Swallowing Function in Laryngopharyngeal Cancer Patients After J-Flap Reconstruction.","authors":"Yi-An Lu, Chung-Kan Tsao, Li-Jen Hsin, Hsiu-Feng Chuang, Tuan-Jen Fang","doi":"10.21053/ceo.2024.00109","DOIUrl":"https://doi.org/10.21053/ceo.2024.00109","url":null,"abstract":"<p><strong>Background: </strong>A novel J-shaped anterolateral thigh (ALT) flap reconstruction technique had been developed to simultaneously restore swallowing and speech functions in patients following total laryngopharyngectomy. This study aimed to assess the outcomes and surgical complications in patients who underwent J-flap reconstruction over time.</p><p><strong>Methods: </strong>Patients who underwent J-shaped ALT flap phonatory tube reconstruction were enrolled. Surgical morbidities and outcomes were evaluated every 3 months postsurgery for 12 months or death.</p><p><strong>Results: </strong>Of the 36 patients, 13 underwent circumferential pharyngeal wall resection (circumferential defect group, CD group), and 23 underwent partial resection (partial defect group, PD group). After 12 months, 97% of the patients resumed oral intake without reliance on a nasogastric tube (NG tube), and 50% achieved fluent speech using the reconstructed phonatory tube. The CD group showed a higher rate of delayed healing (30.77% vs. 0%, p=0.005). The PD group exhibited significantly greater percentages of individuals consuming solid food at both the 3- and 12-month intervals than the CD group (81.0% vs. 23.1% and 78.9% vs. 40%, respectively).</p><p><strong>Conclusion: </strong>: This study examined the evolution of speech and swallowing functions over time following J-flap voice tube reconstruction. Regardless of whether the defect was circumferential or partial, using a J-shaped ALT flap phonatory tube effectively restored both speech and swallowing functions, offering long-lasting benefits.</p>","PeriodicalId":10318,"journal":{"name":"Clinical and Experimental Otorhinolaryngology","volume":" ","pages":""},"PeriodicalIF":2.9,"publicationDate":"2024-11-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142567645","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical significance of gross extrathyroidal extension to only the strap muscle according to tumor size in differentiated thyroid cancer: a systematic review and metaanalysis.","authors":"Ho-Ryun Won, Hyo-One Son, Sumin Yi, Ji Won Kim, Jae Won Chang, Bon Seok Koo","doi":"10.21053/ceo.2024.00162","DOIUrl":"https://doi.org/10.21053/ceo.2024.00162","url":null,"abstract":"<p><strong>Objective: </strong>The presence of extrathyroidal extension (ETE) in differentiated thyroid cancer (DTC) patients is an important predictor of their prognosis. Therefore, the tumor stage of DTC is divided into extensive ETE and gross ETE only affecting the strap muscle (Gross strap muscles invasion; gSMI). However, insufficient evidence exists regarding the association of gSMI with the prognosis, especially in relation to tumor size.</p><p><strong>Methods: </strong>Related literature was searched in MEDLINE, Embase, Cochrane Library and KoreaMed. All processes were performed in accordance with PRISMA guidelines, and the process was conducted by two independent reviewers. The meta-analysis was performed using a random-effect model considering the diversity of studies. RoBANS version 2.0, an evaluation tool for non-randomized studies, was used to evaluate the quality of the selected research. Clinical data from observational studies that analyzed the relationship between the degree of ETE and prognosis were collected, and a meta-analysis was performed.</p><p><strong>Results: </strong>Eighteen observational studies were included in this study. A subgroup analysis was performed for each outcome. The recurrence rate (odds ratio [OR]: 2.498), disease-specific mortality (risk ratio [RR]: 2.984), overall mortality (RR: 1.361) and lymph node (LN) metastasis (OR: 5.355) were significantly higher in patients with gSMI than in those with no ETE. However, in an analysis limited to tumors 4 cm or smaller, no significant difference in prognostic outcomes was seen, except for LN metastasis.</p><p><strong>Conclusion: </strong>gSMI has a negative impact on the prognosis; however, this correlation diminishes when the tumor size is small. Thus, a more cautious approach is warranted during the treatment process.</p>","PeriodicalId":10318,"journal":{"name":"Clinical and Experimental Otorhinolaryngology","volume":" ","pages":""},"PeriodicalIF":2.9,"publicationDate":"2024-10-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142557301","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Therapeutic Effectiveness SNOT 22-based interdose interval adjustment of dupilumab for CRSwNP.","authors":"So Yeon Yoon, HyunKyung Cha, Seung-No Hong, Min-Suk Yang, Dae Woo Kim","doi":"10.21053/ceo.2024.00233","DOIUrl":"https://doi.org/10.21053/ceo.2024.00233","url":null,"abstract":"<p><strong>Objectives: </strong>This study aims to evaluate whether Sino-nasal Outcome Test (SNOT-22)-based interdose interval adjustment of dupilumab demonstrates enduring efficacy and patient satisfaction in chronic rhinosinusitis with nasal polyps (CRSwNP).</p><p><strong>Methods: </strong>A retrospective analysis was conducted using planned data collection from 44 patients who received dupilumab and had been followed up for more than 6 months, targeting individuals with CRSwNP based on the EPOS 2020 Criteria. Patients were treated with add-on dupilumab by adjusting the interdose interval based on SNOT-22, which was tapered when subjects with >40 SNOT-22 at pretreatment evaluation were controlled at the level of ≤20 SNOT-22; when subjects with ≤40 SNOT-22 at pretreatment evaluation were controlled at the level of ≥50% improvement. SNOT-22, nasal polyp scores (NPS), and a subjective satisfaction questionnaire modified from the Treatment Satisfaction Questionnaire for Medication (TSQM v.1.4) were assessed at each visit.</p><p><strong>Results: </strong>The SNOT-22-based interdose interval adjustment of dupilumab showed sustained improvement in patients' subjective symptoms, satisfaction, and NPS. Mean scores (S.D) of SNOT-22 improved from 46.04 (22.30) to 14.72 (13.66) at 6 months (p=0.000); NPS improved from 3.20 (2.24) to 1.72 (1.46) at 6 months (p=0.000). Satisfaction scores (0-5) were well maintained above 3.5 points for up to 6 months(p=0.166). There was also a significant correlation between the improvement in the nasal symptom domain of SNOT-22 scores and higher satisfaction scores.</p><p><strong>Conclusion: </strong>Adjusting dupilumab intervals based on SNOT-22 from the start leads to sustained efficacy and patient satisfaction in Korean CRSwNP. This will be of great clinical help in determining the optimal dupilumab interval.</p>","PeriodicalId":10318,"journal":{"name":"Clinical and Experimental Otorhinolaryngology","volume":" ","pages":""},"PeriodicalIF":2.9,"publicationDate":"2024-10-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142557303","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Consensus Statement: Postoperative Management after Balloon Dilation of the Eustachian Tube.","authors":"Min Young Kwak, Ho Yun Lee, Soo-Keun Kong, In Seok Moon, Bong Jik Kim, Myung-Whan Suh, Jae Yun Jung, Hong Ju Park, Kyu-Yup Lee, Hyong-Ho Cho, Ryoukichi Ikeda, Jae-Jin Song, Chi-Kyou Lee","doi":"10.21053/ceo.2024.00121","DOIUrl":"https://doi.org/10.21053/ceo.2024.00121","url":null,"abstract":"<p><strong>Objective: </strong>Balloon dilation of Eustachian tube (BDET) has been widely used as a minimally invasive treatment for obstructive Eustachian tube dysfunction (ETD). We used a Delphi consensus methodology to explore recommendations for clinical management of BDET in obstructive ETD.</p><p><strong>Procedure: </strong>A Delphi panel of 26 expert physicians of otology participated in two rounds of anonymous, iterative questionnaires. Consensus is defined as ≥ 70% of panelists agree with recommendation and disagreement as < 70% agree. The responses from the Delphi study were analyzed using both the content validity ratio and Kendall's coefficient of concordance.</p><p><strong>Results: </strong>The panel finally evaluated 26 topics, agreed 9 and did not reach consensus on 17 topics after 2 rounds. Although no consensus was reached on the postoperative follow-up period, a period of 12 months was most adopted. The Valsalva maneuver and questionnaire responses showed the highest agreement as postoperative assessment tools after BDET.</p><p><strong>Conclusion: </strong>Consensus was reached on some of the recommendations for the management of BEDT in obstructive ETD. The resultant agreement will provide directions for future research to describe standard postoperative management of BDET.</p>","PeriodicalId":10318,"journal":{"name":"Clinical and Experimental Otorhinolaryngology","volume":" ","pages":""},"PeriodicalIF":2.9,"publicationDate":"2024-10-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142557302","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Measurement of microplastic release after use of polypropylene nasal irrigation bottles.","authors":"Kyung Soo Kim,Hyun Jin Min","doi":"10.21053/ceo.2024.00182","DOIUrl":"https://doi.org/10.21053/ceo.2024.00182","url":null,"abstract":"ObjectivesMicroplastics from plastic materials can affect human health. This study aimed to assess their presence in nasal irrigation fluids obtained from reused bottles based on usage duration.MethodsReadily available nasal irrigation bottles made of polypropylene were purchased. Unused irrigation bottles served as controls. Bottles mimicking 1-, 3-, and 6-month reuse were prepared as test samples. Nasal irrigation fluid samples (n=12) were collected from each set of irrigation bottles: three from new control bottles and nine from bottles mimicking 1-, 3-, and 6-month reuse. Raman spectroscopy was employed to detect microplastics in the nasal irrigation samples; the results were compared according to the bottle use duration.ResultsAn average of 33.00±20.42 (ea/300 mL) microplastic particles was detected in the nasal irrigation fluid from the control bottles relative to an average of 68.66±30.07, 261.66±20.59, and 204.33±52.16 (ea/300 mL) from bottles used for 1, 3, and 6 months, respectively. The majority of the detected microplastics were 10-100 μm in size and fragmentshaped in form. The predominant microplastic was polypropylene, indicating direct release from irrigation bottles.ConclusionWe found microplastics in nasal irrigation fluids, likely originating from the repeated use of nasal irrigation bottles. The quantity of microplastics was notably elevated in the samples obtained from bottles simulating 3 months of use compared to those in the control samples. Thus, we propose developing guidelines regulating the duration of nasal irrigation bottle usage to mitigate microplastic infiltration into the body through the sinonasal cavity.","PeriodicalId":10318,"journal":{"name":"Clinical and Experimental Otorhinolaryngology","volume":"16 1","pages":""},"PeriodicalIF":3.0,"publicationDate":"2024-09-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142218326","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical efficacy study of position-responding mandibular advancement device in patients with obstructive sleep apnea.","authors":"Sung-Woon On, Dong-Kyu Kim, Min Hyuk Lee, Ji Hae Lee, Kyung Chul Lee, Soo-Hwan Byun, Seok Jin Hong","doi":"10.21053/ceo.2024.00124","DOIUrl":"https://doi.org/10.21053/ceo.2024.00124","url":null,"abstract":"<p><strong>Objectives: </strong>Although mandibular advancement device (MAD) treatment is effective in patients with obstructive sleep apnea (OSA), there are still some concerns about its potential therapeutic and side effects. Thus, we developed a novel MAD that auto-titrates depending on its position in patients with OSA. Therefore, we conducted a clinical trial to determine the efficacy of an auto-titrating mandibular advancement device (AMAD) for treating OSA.</p><p><strong>Methods: </strong>Fourteen patients with OSA were enrolled in this study. Polysomnography (PSG) was conducted at the start of the clinical trial, and PSG with AMAD in situ was performed after three months of treatment.</p><p><strong>Results: </strong>The mean Epworth Sleepiness Scale (ESS) and STOP-Bang scores were 8.21 ± 4.21 and 5.00 ± 1.00, respectively. After 3 months of treating AMAD, STOP-Bang scores improved to 3.75 ± 1.06; however, there was no significant change in ESS scores. Additionally, we found statistically significant improvements in several respiratory parameters in the PSG data after AMAD treatment. The AHI (32.85 ± 21.71 to 12.93 ± 10.70), supine AHI (45.91 ± 23.58 to 15.59 ± 12.76), lateral AHI (13.94 ± 10.95 to .49 ± 7.40), lowest O2 saturation (79.71 ± 6.22 to 84.00 ± 5.71), total arousal number (191.14 ± 112.07 to 86.57 ± 48.80), and arousal index (33.76 ± 21.00 to 15.05 ± 8.42) were recorded. However, there were no significant changes in total sleep time, sleep efficiency, or mean oxygen saturation. Additionally, we did not observe any major side effects during treatment, specifically related to tooth or jaw pain.</p><p><strong>Conclusion: </strong>Our clinical trial revealed that AMAD improved PSG parameters and reduced the incidence of common side effects. Therefore, AMAD may be an effective alternative treatment for OSA.</p>","PeriodicalId":10318,"journal":{"name":"Clinical and Experimental Otorhinolaryngology","volume":" ","pages":""},"PeriodicalIF":2.9,"publicationDate":"2024-08-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142104877","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Microbiome and mycobiome analyses in continuous positive airway pressure devices.","authors":"Hyun Jin Min, Bo-Yun Choi, Woo Jun Sul, Hyung-Ju Cho","doi":"10.21053/ceo.2024.00167","DOIUrl":"10.21053/ceo.2024.00167","url":null,"abstract":"<p><strong>Objectives: </strong>Microorganisms are likely present in continuous positive airway pressure (CPAP) devices used daily. Considering the potential risk of infections among CPAP device users, here we aimed to compare the microbiomes in CPAP devices with those in nasal mucosal samples obtained from corresponding individuals using these devices.</p><p><strong>Methods: </strong>We conducted a prospective cohort study at tertiary medical institutes. Samples were collected from the tubes and filters of CPAP devices and the nasal mucosa of corresponding individuals using these devices. Microbiomes and mycobiomes were analyzed using 16S ribosomal RNA and internal transcribed spacer region sequencing. Results were compared according to the sampling site and usage duration for each patient.</p><p><strong>Results: </strong>Overall, 27 paired human nasal mucosa and CPAP samples were analyzed. Bacteria were present in 7 of 27 tubes (29.6%) and 22 of 27 filters (81.5%). Fungi were present in 2 of the 27 tubes (7.4%) and 16 of the 27 filters (59.3%). Actinobacteria and Firmicutes were the predominant phyla among all samples. Fungi were not detected in any of the nasal mucosal samples. However, Basidiomycota and Ascomycota were predominant in the CPAP filters and tube samples. No significant associations were identified among the results according to sampling site and usage duration.</p><p><strong>Conclusion: </strong>Bacteria or fungi can be detected to some extent in CPAP samples even if the CPAP usage period is short. The association between respiratory infections and these microbiomes or mycobiomes was not investigated. Further research might be required to determine the risk posed by CPAP devices as a microbial contamination source.</p>","PeriodicalId":10318,"journal":{"name":"Clinical and Experimental Otorhinolaryngology","volume":" ","pages":""},"PeriodicalIF":2.9,"publicationDate":"2024-08-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141970768","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Surgical and Regenerative Treatment Options for Empty Nose Syndrome: A Systematic Review.","authors":"Do Hyun Kim, Mohammed Abdullah Basurrah, Soo Whan Kim, Sung Won Kim","doi":"10.21053/ceo.2023.00038","DOIUrl":"10.21053/ceo.2023.00038","url":null,"abstract":"<p><strong>Objectives: </strong>Patients with empty nose syndrome typically experience paradoxical nasal congestion, nasal dryness, epistaxis, and suffocation. Conservative management is generally preferred for empty nose syndrome. However, some patients continue to experience persistent symptoms. When symptoms do not resolve, surgical options are considered. Therefore, we reviewed the surgical and regenerative treatment options for empty nose syndrome.</p><p><strong>Methods: </strong>PubMed, Embase, Scopus, Cochrane Register of Controlled Trials, and Google Scholar were searched from the earliest date provided in the database until December 2022. This review included studies that assessed treatment outcomes using patient symptom scores, including the Sino-Nasal Outcome Test (SNOT-20, -22, and -25) and the Empty Nose Syndrome 6-Item Questionnaire, supplemented by various clinical examinations.</p><p><strong>Results: </strong>Twenty-eight studies were analyzed. Various materials were utilized, including submucosal injectable materials, allografts/xenografts/cadaveric implants, autologous implants, and synthetic implants. The polyethylene implant was the most commonly used (23.3%), followed by autologous, homologous, or cadaveric costal cartilage (20%). The anterior-inferior lateral nasal wall was the most frequent site of administration. Most studies indicated that surgical intervention led to significant improvements in clinical outcomes, as evidenced by endoscopic exams, acoustic rhinometry, and computed tomography scans, along with patient-reported enhancements in nasal symptoms, psychological well-being, and overall health-related quality of life. However, several studies found no improvement in certain psychological-related questionnaires or saccharin transit times. The average follow-up duration was 12.0 months (range, 2.0-27.6 months). Only two studies reported postoperative adverse effects.</p><p><strong>Conclusion: </strong>Several surgical options and recent tissue regeneration techniques have demonstrated efficacy in treating empty nose syndrome. However, more detailed investigations involving a larger number of participants and a randomized control study are necessary to establish a standardized treatment protocol for patients with empty nose syndrome.</p>","PeriodicalId":10318,"journal":{"name":"Clinical and Experimental Otorhinolaryngology","volume":" ","pages":"241-252"},"PeriodicalIF":2.9,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11375171/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141497276","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":"Deficient Gap Junction Coupling in Two Common Hearing Loss-Related Variants of GJB2.","authors":"Kaitian Chen, Hongyan Jiang","doi":"10.21053/ceo.2023.00078","DOIUrl":"10.21053/ceo.2023.00078","url":null,"abstract":"<p><strong>Objectives: </strong>The aim of this study was to explore the functional consequences of two common variants, p.V37I and c.299-300delAT, in the hearing loss-associated gene GJB2.</p><p><strong>Methods: </strong>Connexin 26 expression and gap junctional permeability were studied in HEK 293T cells transfected with plasmids expressing GJB2 wild-type, p.V37I, or c.299-300delAT CX26 proteins tagged with fluorescent markers. Functional analyses of various GJB2 haplotypes were conducted to thoroughly evaluate alterations in ionic and small-molecule coupling.</p><p><strong>Results: </strong>The p.V37I protein was localized at the plasma membrane, but it failed to effectively transport intercellular propidium iodide or Ca2+ efficiently, indicating an impairment in both biochemical and ionic coupling. The presence of GJB2 p.V37I seemed to increase the cells' sensitivity to H2O2 treatment. In contrast, the known variant c.299-300delAT protein was not transported to the cell membrane and was unable to form gap junctions, remaining confined to the cytoplasm. Both ionic and biochemical coupling were defective in cells transfected with c.299-300delAT.</p><p><strong>Conclusion: </strong>The p.V37I and c.299-300delAT GJB2 mutations resulted in deficient gap junction-mediated coupling. Additionally, environmental factors could influence the functional outcomes of the GJB2 p.V37I mutation. These findings could pave the way for the development of molecular therapies targeting GJB2 mutations to treat hearing loss.</p>","PeriodicalId":10318,"journal":{"name":"Clinical and Experimental Otorhinolaryngology","volume":" ","pages":"198-205"},"PeriodicalIF":2.9,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11375172/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141237274","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}