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Prevalence and risk factors for underlying vestibular weakness in cochlear implant candidates.
IF 1.9 3区 医学 Q2 OTORHINOLARYNGOLOGY Pub Date : 2025-04-07 DOI: 10.1007/s00405-025-09361-5
Allison Reeder, Rema Shah, Joseph Canner, Eric Schneider, Eugenia Vining, John F Kveton, Nofrat Schwartz

Objective: To describe the baseline vestibular function in cochlear implant candidates and identify demographic and audiologic risk factors for vestibular dysfunction.

Study design: Retrospective cohort study (2012-2022) of the CI candidate population.

Setting: Neurotology practice at large academic hospital.

Methods: All patients evaluated for CI underwent routine preoperative vestibular evaluation, irrespective of symptoms. Preoperative audiologic data was also analyzed.

Results: Of a total of 180 preoperative VNGs obtained, 39.4% demonstrated preoperative vestibular weakness as determined on caloric testing. Of these, 26.8% had evidence of bilateral weakness, 60.5% unilateral weakness ipsilateral to the worse hearing ear and 12.7% contralateral weakness. Demographic variables such as age, gender, BMI and medical comorbidities including diabetes, hypertension, hyperlipidemia were not found to be associated with a higher risk of vestibular weakness. Patients with vestibular weakness had significantly poorer low tone hearing. Hearing loss at 250 Hz was the strongest prognostic factor for risk of vestibular weakness. Using a cutoff of 45dB at 250 Hz as an indicator for obtaining preoperative VNG was found to have a sensitivity of 92.9% and specificity of 37.9% for identifying vestibular weakness.

Conclusions: Traditional CI candidates have a high prevalence of preoperative vestibular weakness. Audiologic data and specifically severity of hearing loss in the low frequencies may be a useful indicator of vestibular weakness and thus help guide which patients should undergo preoperative VNG. We propose the cutoff point of 45dB at 250 Hz as an indicator of higher risk for vestibular weakness and recommend preoperative VNG testing for this population prior to surgery.

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引用次数: 0
Scientometric analysis of trends in research in laryngopharyngeal reflux.
IF 1.9 3区 医学 Q2 OTORHINOLARYNGOLOGY Pub Date : 2025-04-07 DOI: 10.1007/s00405-025-09381-1
Dhanshree R Gunjawate, Rohit Ravi

Objective: Scientometric analysis helps to understand the research trends and identify top contributors, publishers, trends, and research topics. Laryngopharyngeal reflux has been a topic of interest in research and clinical practice. The literature on laryngopharyngeal reflux is evolving and a scientometric analysis will help us understand the trends better. The present study aimed to analyze published data to identify trends, top contributors, top institutions and countries, growth of publications, keywords and keyword co-occurrence.

Methods: The present study aims to analyze the evolution of Laryngopharyngeal reflux research using a scientometric analysis approach for publications from the Scopus database using keywords related to laryngopharyngeal reflux. Documents related to laryngopharyngeal reflux were identified for further analysis. Microsoft Excel and VosViewer were used to perform bibliometric analysis.

Results: A total of 7,327 hits were obtained, and after applying filter, 5637 studies were retained for further analysis. The results revealed an increase in publications on LPR, which surged after the early 2000s. The Unites States had the maximum research output, and the Journal of Voice had the highest number of publications. The keyword co-occurrence analysis helped identify five research themes on laryngopharyngeal reflux.

Conclusion: The findings reveal a rising trend in laryngopharyngeal reflux, especially in recent years. The presence of international collaborations and a high volume of research will help bridge gaps, enable capacity building and improve understanding of LPR.

{"title":"Scientometric analysis of trends in research in laryngopharyngeal reflux.","authors":"Dhanshree R Gunjawate, Rohit Ravi","doi":"10.1007/s00405-025-09381-1","DOIUrl":"https://doi.org/10.1007/s00405-025-09381-1","url":null,"abstract":"<p><strong>Objective: </strong>Scientometric analysis helps to understand the research trends and identify top contributors, publishers, trends, and research topics. Laryngopharyngeal reflux has been a topic of interest in research and clinical practice. The literature on laryngopharyngeal reflux is evolving and a scientometric analysis will help us understand the trends better. The present study aimed to analyze published data to identify trends, top contributors, top institutions and countries, growth of publications, keywords and keyword co-occurrence.</p><p><strong>Methods: </strong>The present study aims to analyze the evolution of Laryngopharyngeal reflux research using a scientometric analysis approach for publications from the Scopus database using keywords related to laryngopharyngeal reflux. Documents related to laryngopharyngeal reflux were identified for further analysis. Microsoft Excel and VosViewer were used to perform bibliometric analysis.</p><p><strong>Results: </strong>A total of 7,327 hits were obtained, and after applying filter, 5637 studies were retained for further analysis. The results revealed an increase in publications on LPR, which surged after the early 2000s. The Unites States had the maximum research output, and the Journal of Voice had the highest number of publications. The keyword co-occurrence analysis helped identify five research themes on laryngopharyngeal reflux.</p><p><strong>Conclusion: </strong>The findings reveal a rising trend in laryngopharyngeal reflux, especially in recent years. The presence of international collaborations and a high volume of research will help bridge gaps, enable capacity building and improve understanding of LPR.</p>","PeriodicalId":11952,"journal":{"name":"European Archives of Oto-Rhino-Laryngology","volume":" ","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-04-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143802750","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}
引用次数: 0
Revisiting the efficiency and necessity of adenotonsillectomy in children with mild obstructive sleep apnea: a systematic review and meta-analysis.
IF 1.9 3区 医学 Q2 OTORHINOLARYNGOLOGY Pub Date : 2025-04-07 DOI: 10.1007/s00405-025-09380-2
Omar Alomari, Sinem Nur Ertan, Muhammed Edib Mokresh, Elif Nur Arı, Maryam Pourali, Adnan Ali, Seljan Sadigova, Ghazaleh Kokabi Ghahremanpour, Melis Demirag Evman

Background: Adenotonsillar hypertrophy is the leading cause of obstructive sleep apnea (OSA) in children, with adenotonsillectomy (AT) being the most common surgical treatment. Although AT is widely performed, its efficacy in treating mild OSA remains uncertain. Current literature suggests that children with mild OSA might benefit from non-surgical management, but there is a lack of evidence ND studies evaluating the outcomes of AT specifically for mild OSA. The aim of this systematic review and meta-analysis is to provide conclusive insights into the effectiveness of adenotonsillectomy in improving health outcomes and quality of life for children with mild obstructive sleep apnea.

Methods: PubMed, Scopus, Embase, Cochrane, and Web of Science databases have been searched for relevant studies. We included original studies that evaluated the safety or effectiveness of AT in the management of mild OSA among pediatric patients. For quantitative analysis, data were synthesized using a random-effects model in R (version 4.3.3), and heterogeneity was assessed using statistical methods including the restricted maximum-likelihood estimator and the I2 statistic. We also conducted analyses of change scores and covariance to estimate the effect of AT on the severity of mild OSAS.

Results: Our review included 27 studies after screening 1851 citations. The meta-analysis demonstrated significant improvements with AT for mild OSA. The Pediatric Sleep Questionnaire scores improved with a mean difference (MD) of -0.32 (95% CI [-0.39; -0.25], p < 0.001). AHI decreased significantly with an MD of -1.45 (95% CI [-2.11; -0.80], p < 0.001). Comparison with watchful waiting revealed AT to be more effective: AHI showed an MD of -1.22 (95% CI [-1.92; -0.53], p < 0.001), and the arousal index had an MD of -1.73 (95% CI [-2.95; -0.51], p = 0.005). Safety data indicated that while AT is generally safe, it is associated with minor complications such as postoperative desaturation and occasional bleeding. Long-term serious adverse events were rare.

Conclusion: AT effectively improves symptoms in children with mild OSA, outperforming watchful waiting in several key metrics. This review supports AT as a viable option but underscores the importance of considering individual patient factors in treatment decisions.

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引用次数: 0
Impact of vestibular rehabilitation therapy on quality of life and cognitive function in individuals with chronic dizziness or vertigo.
IF 1.9 3区 医学 Q2 OTORHINOLARYNGOLOGY Pub Date : 2025-04-07 DOI: 10.1007/s00405-025-09382-0
Anupriya Ebenezer, Kaushlendra Kumar, Mohan Kumar Kalaiah, Deviprasad Dosemane, M Ramiz Malik

Purpose: Dizziness and vertigo are among the most frequently reported complaints among patients across various medical and healthcare specialties. Studies have revealed that they are associated with cognitive impairments, particularly in older adults. While vestibular rehabilitation therapy (VRT) alleviates physical symptoms, its effects on cognitive function remain underexplored. Hence, this study aims to assess the impact of VRT on the quality of life and cognitive performance of individuals with chronic dizziness or vertigo.

Methods: This was a randomized control trial in which 60 participants experienced chronic dizziness or vertigo. The participants were assigned to either the medication-only group receiving betahistine or the VRT + medication group receiving VRT combined with betahistine. Quality of life was measured via the Dizziness Handicap Inventory (DHI). Cognitive performance was assessed via a digit span test, task-switching test, and recording of P300 response.

Results: The VRT + Medication group showed significant improvements in cognitive performance, particularly in the digit span and task-switching tests, with reduced P300 response latency and increased amplitude. No significant cognitive changes were observed in the medication-only group. Both groups showed improvement in quality of life, with a greater reduction in DHI scores observed in the VRT + Medication group.

Conclusion: VRT combined with medication significantly improves cognitive function and quality of life in individuals with chronic dizziness or vertigo. These findings suggest that VRT not only addresses physical symptoms but also enhances cognitive performance, highlighting its potential as a comprehensive therapeutic approach.

Trial registration: The study protocol was registered in the Clinical Trial Registry of India (CTRI number: CTRI/2020/03/023934).

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引用次数: 0
Methodological considerations in evaluating long-term outcomes of cochlear implantation. 评估人工耳蜗植入术长期效果的方法考虑因素。
IF 1.9 3区 医学 Q2 OTORHINOLARYNGOLOGY Pub Date : 2025-04-07 DOI: 10.1007/s00405-025-09373-1
Jie Wang, Tuochen Lv
{"title":"Methodological considerations in evaluating long-term outcomes of cochlear implantation.","authors":"Jie Wang, Tuochen Lv","doi":"10.1007/s00405-025-09373-1","DOIUrl":"https://doi.org/10.1007/s00405-025-09373-1","url":null,"abstract":"","PeriodicalId":11952,"journal":{"name":"European Archives of Oto-Rhino-Laryngology","volume":" ","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-04-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143802744","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}
引用次数: 0
Impact of anterior commissure involvement on recurrence in early-stage vocal cord tumors: a propensity score analysis.
IF 1.9 3区 医学 Q2 OTORHINOLARYNGOLOGY Pub Date : 2025-04-07 DOI: 10.1007/s00405-025-09357-1
Carlos Galán García-Hortelano, Javier Gavilanes Plasencia, Alfred García Fernandez

Background: Laryngeal cancer is one of the most common head and neck tumors, with 75% affecting the vocal cords. The 8th edition of the TNM staging system defines T1 glottic tumors as those limited to the vocal cords with preserved mobility. Since the publication of the third edition in 1998, this category has been divided into T1a (tumor limited to one vocal cord) and T1b (both vocal cords involved). However, these tumors can also involve the anterior commissure. The anterior commissure is considered a sublocation by the American Joint Committee on Cancer (AJCC) and the Union for International Cancer Control, but it is not accounted for in the current T staging system. Although the anterior commissure is rarely the primary site of glottic tumors (1%), 20% of glottic tumors show involvement of the anterior commissure, with its impact on prognosis still controversial.

Methods: A global and specific survival analysis was performed using the Kaplan-Meier method, comparing survival curves with the Log Rank test. A Cox regression model was constructed, including confounding variables and examining possible interaction terms, evaluating the proportionality assumption through graphical methods. Confounding variables were controlled using the Propensity Score (PS), estimating the effect with different PS methods.

Results: The variable "Anterior Commissure" showed a significant effect on the recurrence of glottic cancer, consistent across the different propensity score adjustment methods. The Inverse Probability of Treatment Weighting (IPTW) method was particularly effective in adjusting for covariate differences between groups, maintaining the full sample size, and providing a robust and clinically relevant analysis.

Conclusions: The anterior commissure is a significant risk factor for the recurrence of glottic cancer. Integrating propensity score methods enhances the precision and validity of survival studies. It is recommended to continue exploring these methods in larger and more diverse cohorts.

{"title":"Impact of anterior commissure involvement on recurrence in early-stage vocal cord tumors: a propensity score analysis.","authors":"Carlos Galán García-Hortelano, Javier Gavilanes Plasencia, Alfred García Fernandez","doi":"10.1007/s00405-025-09357-1","DOIUrl":"https://doi.org/10.1007/s00405-025-09357-1","url":null,"abstract":"<p><strong>Background: </strong>Laryngeal cancer is one of the most common head and neck tumors, with 75% affecting the vocal cords. The 8th edition of the TNM staging system defines T1 glottic tumors as those limited to the vocal cords with preserved mobility. Since the publication of the third edition in 1998, this category has been divided into T1a (tumor limited to one vocal cord) and T1b (both vocal cords involved). However, these tumors can also involve the anterior commissure. The anterior commissure is considered a sublocation by the American Joint Committee on Cancer (AJCC) and the Union for International Cancer Control, but it is not accounted for in the current T staging system. Although the anterior commissure is rarely the primary site of glottic tumors (1%), 20% of glottic tumors show involvement of the anterior commissure, with its impact on prognosis still controversial.</p><p><strong>Methods: </strong>A global and specific survival analysis was performed using the Kaplan-Meier method, comparing survival curves with the Log Rank test. A Cox regression model was constructed, including confounding variables and examining possible interaction terms, evaluating the proportionality assumption through graphical methods. Confounding variables were controlled using the Propensity Score (PS), estimating the effect with different PS methods.</p><p><strong>Results: </strong>The variable \"Anterior Commissure\" showed a significant effect on the recurrence of glottic cancer, consistent across the different propensity score adjustment methods. The Inverse Probability of Treatment Weighting (IPTW) method was particularly effective in adjusting for covariate differences between groups, maintaining the full sample size, and providing a robust and clinically relevant analysis.</p><p><strong>Conclusions: </strong>The anterior commissure is a significant risk factor for the recurrence of glottic cancer. Integrating propensity score methods enhances the precision and validity of survival studies. It is recommended to continue exploring these methods in larger and more diverse cohorts.</p>","PeriodicalId":11952,"journal":{"name":"European Archives of Oto-Rhino-Laryngology","volume":" ","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-04-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143802826","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}
引用次数: 0
Efficacy and role of indocyanine green angiography in thyroidectomy: a systematic review and meta-analysis.
IF 1.9 3区 医学 Q2 OTORHINOLARYNGOLOGY Pub Date : 2025-04-07 DOI: 10.1007/s00405-025-09370-4
Van Cuong Nguyen, Chang Myeon Song, Yong Bae Ji, Jae Kyung Myung, Jin Hyeok Jeong, Kyung Tae

Purpose: This study evaluates the role and effectiveness of indocyanine green (ICG) angiography in conventional thyroidectomy, comparing its outcomes with those of the naked-eye (NE) technique.

Methods: A comprehensive literature search was conducted in PubMed, EMBASE, and the Cochrane Library databases through November 2024. Meta-analyses were performed on the selected studies. We compared the rates of parathyroid gland (PG) identification, autotransplantation, hypoparathyroidism, hypocalcemia, and postoperative levels of intact parathyroid hormone (iPTH) and calcium between the ICG and NE groups.

Results: We analyzed 29 studies involving 2,393 thyroidectomies. The PG identification rate was significantly higher in the ICG group at 84.7% (95% CI: 77.5-90.0%) than in the NE group (OR = 1.49, 95% CI: 1.26-1.79). Additionally, the rate of parathyroid autotransplantation was higher in the ICG group (OR = 2.18, 95% CI: 1.56-3.03). The transient hypoparathyroidism rate in the ICG group was 11.0% (95% CI: 5.3-21.5%), which was slightly lower than that in the NE group, although the difference was not statistically significant. Conversely, the transient hypocalcemia rate was significantly lower in the ICG group at 13.2% (95% CI: 8.6-19.6%) than in the NE group (OR = 0.50, 95% CI: 0.30-0.85). No significant differences were observed between the two groups in 1-day postoperative iPTH or calcium levels.

Conclusion: This meta-analysis demonstrates the superior efficacy of ICG angiography over the NE technique during thyroidectomy. ICG angiography resulted in a higher PG identification rate and significantly reduced postoperative transient hypocalcemia compared to those in the NE approach.

{"title":"Efficacy and role of indocyanine green angiography in thyroidectomy: a systematic review and meta-analysis.","authors":"Van Cuong Nguyen, Chang Myeon Song, Yong Bae Ji, Jae Kyung Myung, Jin Hyeok Jeong, Kyung Tae","doi":"10.1007/s00405-025-09370-4","DOIUrl":"https://doi.org/10.1007/s00405-025-09370-4","url":null,"abstract":"<p><strong>Purpose: </strong>This study evaluates the role and effectiveness of indocyanine green (ICG) angiography in conventional thyroidectomy, comparing its outcomes with those of the naked-eye (NE) technique.</p><p><strong>Methods: </strong>A comprehensive literature search was conducted in PubMed, EMBASE, and the Cochrane Library databases through November 2024. Meta-analyses were performed on the selected studies. We compared the rates of parathyroid gland (PG) identification, autotransplantation, hypoparathyroidism, hypocalcemia, and postoperative levels of intact parathyroid hormone (iPTH) and calcium between the ICG and NE groups.</p><p><strong>Results: </strong>We analyzed 29 studies involving 2,393 thyroidectomies. The PG identification rate was significantly higher in the ICG group at 84.7% (95% CI: 77.5-90.0%) than in the NE group (OR = 1.49, 95% CI: 1.26-1.79). Additionally, the rate of parathyroid autotransplantation was higher in the ICG group (OR = 2.18, 95% CI: 1.56-3.03). The transient hypoparathyroidism rate in the ICG group was 11.0% (95% CI: 5.3-21.5%), which was slightly lower than that in the NE group, although the difference was not statistically significant. Conversely, the transient hypocalcemia rate was significantly lower in the ICG group at 13.2% (95% CI: 8.6-19.6%) than in the NE group (OR = 0.50, 95% CI: 0.30-0.85). No significant differences were observed between the two groups in 1-day postoperative iPTH or calcium levels.</p><p><strong>Conclusion: </strong>This meta-analysis demonstrates the superior efficacy of ICG angiography over the NE technique during thyroidectomy. ICG angiography resulted in a higher PG identification rate and significantly reduced postoperative transient hypocalcemia compared to those in the NE approach.</p>","PeriodicalId":11952,"journal":{"name":"European Archives of Oto-Rhino-Laryngology","volume":" ","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-04-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143802822","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}
引用次数: 0
Evaluation of positional variations through DISE in optimizing the treatment of OSA.
IF 1.9 3区 医学 Q2 OTORHINOLARYNGOLOGY Pub Date : 2025-04-07 DOI: 10.1007/s00405-025-09359-z
Shree Rath
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引用次数: 0
Exploring the association between pneumosinus dilatans and meningioma- a case report.
IF 1.9 3区 医学 Q2 OTORHINOLARYNGOLOGY Pub Date : 2025-04-07 DOI: 10.1007/s00405-025-09338-4
Thaer Ali Darwish, Marium Saeed

Pneumosinus dilatans (PSD) is a rare condition characterized by the enlargement of the paranasal sinus, predominantly the frontal sinus. The cause of PSD is uncertain, and its etiology is contested and not well established, as it develops without signs of bone resorption or pathological changes to the underlying mucosa. Meningioma is a common type of brain tumor that is generally non-malignant and arises from the membranous layers (meninges) surrounding the brain or the spinal cord. Here, we present a case of a patient who was diagnosed with grade 1 meningioma and exhibited dilation of the paranasal sinuses. This case emphasizes the need to comprehend the association between PSD of spheno-ethmoidal sinus and frontobasal meningioma. This could help develop new insights into treatment options and derive the benefits of early diagnosis.

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引用次数: 0
Using T7 endonuclease I to detect SLC26A4 mutations in children with large vestibular aqueduct syndrome, with or without Mondini malformation and assess cochlear implant outcomes.
IF 1.9 3区 医学 Q2 OTORHINOLARYNGOLOGY Pub Date : 2025-04-07 DOI: 10.1007/s00405-025-09378-w
Yan Ding, Yong Zhang, Cheng Wen, Hua-Ping Xie, Bing-Lin Xie, Lihua Li, Weijing Wu, Ding-Hua Xie, Ruosha Lai

Objective: To analyze SLC26A4 gene mutations in children with large vestibular aqueduct syndrome (LVAS) with or without Mondini malformation, and to compare their hearing phenotypes, rehabilitation outcomes, and learning performance after cochlear implantation.

Methods: We used T7 Endonuclease I enzyme digestion to detect SLC26A4 mutations in 48 children with LVAS without Mondini malformation (EVA group), 29 children with LVAS and Mondini malformation (EVA + MD group). Negative results were confirmed by Sanger sequencing. Auditory performance (CAP) and speech intelligibility (SIR) scores assessed hearing and speech rehabilitation outcomes, while academic performance evaluated learning post-cochlear implantation.

Results: Electrophoresis showed that the positive detection rates of SLC26A4 mutations were 89.58% in the EVA group, 89.66% in the EVA + MD group, and 0% in the control group. In the EVA group, the most common mutations were in exons 7 + 8 (52.08%), 11 + 12 (22.92%), and 19 (18.75%). In the EVA + MD group, the predominant mutations were in exons 11 + 12 (51.72%), 4 (34.48%), 7 + 8 (27.59%), and 19 (24.14%). The EVA + MD group had higher detection rates for two-site (37.93%) and three-site compound heterozygous mutations (13.79%) compared to the EVA group (22.92% and 10.42%, respectively). The median diagnosis time for profound hearing loss was 6.62 months in the EVA + MD group versus 10.56 months in the EVA group. There were no significant differences in CAP and SIR scores between the groups, but the EVA group showed better learning performance.

Conclusion: This study reports, for the first time, multiple cases exhibiting a three-site compound heterozygous mutation in the SLC26A4 gene. The hotspot exons of the SLC26A4 gene differ between children with simple LVAS and those with LVAS accompanied by Mondini malformation. Children with both conditions show earlier onset of profound hearing loss and poorer learning performance compared to those with only LVAS.

{"title":"Using T7 endonuclease I to detect SLC26A4 mutations in children with large vestibular aqueduct syndrome, with or without Mondini malformation and assess cochlear implant outcomes.","authors":"Yan Ding, Yong Zhang, Cheng Wen, Hua-Ping Xie, Bing-Lin Xie, Lihua Li, Weijing Wu, Ding-Hua Xie, Ruosha Lai","doi":"10.1007/s00405-025-09378-w","DOIUrl":"https://doi.org/10.1007/s00405-025-09378-w","url":null,"abstract":"<p><strong>Objective: </strong>To analyze SLC26A4 gene mutations in children with large vestibular aqueduct syndrome (LVAS) with or without Mondini malformation, and to compare their hearing phenotypes, rehabilitation outcomes, and learning performance after cochlear implantation.</p><p><strong>Methods: </strong>We used T7 Endonuclease I enzyme digestion to detect SLC26A4 mutations in 48 children with LVAS without Mondini malformation (EVA group), 29 children with LVAS and Mondini malformation (EVA + MD group). Negative results were confirmed by Sanger sequencing. Auditory performance (CAP) and speech intelligibility (SIR) scores assessed hearing and speech rehabilitation outcomes, while academic performance evaluated learning post-cochlear implantation.</p><p><strong>Results: </strong>Electrophoresis showed that the positive detection rates of SLC26A4 mutations were 89.58% in the EVA group, 89.66% in the EVA + MD group, and 0% in the control group. In the EVA group, the most common mutations were in exons 7 + 8 (52.08%), 11 + 12 (22.92%), and 19 (18.75%). In the EVA + MD group, the predominant mutations were in exons 11 + 12 (51.72%), 4 (34.48%), 7 + 8 (27.59%), and 19 (24.14%). The EVA + MD group had higher detection rates for two-site (37.93%) and three-site compound heterozygous mutations (13.79%) compared to the EVA group (22.92% and 10.42%, respectively). The median diagnosis time for profound hearing loss was 6.62 months in the EVA + MD group versus 10.56 months in the EVA group. There were no significant differences in CAP and SIR scores between the groups, but the EVA group showed better learning performance.</p><p><strong>Conclusion: </strong>This study reports, for the first time, multiple cases exhibiting a three-site compound heterozygous mutation in the SLC26A4 gene. The hotspot exons of the SLC26A4 gene differ between children with simple LVAS and those with LVAS accompanied by Mondini malformation. Children with both conditions show earlier onset of profound hearing loss and poorer learning performance compared to those with only LVAS.</p>","PeriodicalId":11952,"journal":{"name":"European Archives of Oto-Rhino-Laryngology","volume":" ","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-04-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143802752","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}
引用次数: 0
期刊
European Archives of Oto-Rhino-Laryngology
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