OTO Open最新文献

{"title":"Incidence of Patulous Eustachian Tube Following Bariatric Surgery: An Observational Study at a Single Center.","authors":"Hiram H Plata-Huerta, Josefina Alejandra Morales-Del Angel, Gerardo E Muñoz-Maldonado, Luis F Zorrilla-Núñez, Oscar A Ledesma-Orta, José L Treviño-Gonzalez","doi":"10.1002/oto2.70282","DOIUrl":"10.1002/oto2.70282","url":null,"abstract":"<p><strong>Objective: </strong>To evaluate the incidence of Patulous Eustachian Tube (PET) following bariatric surgery using standardized diagnostic criteria.</p><p><strong>Study design: </strong>Prospective cohort study.</p><p><strong>Setting: </strong>Tertiary academic medical center in northern Mexico.</p><p><strong>Methods: </strong>Sixty-four adults undergoing Roux-en-Y gastric bypass or sleeve gastrectomy were enrolled from April 2024 to June 2025. Otological assessments were conducted preoperatively, immediately postoperatively, and at 3 months postsurgery. PET diagnosis was determined using the Japan Otological Society (JOS) criteria. The Eustachian Tube Dysfunction Questionnaire-7 (ETDQ-7) was administered at each visit. Weight loss parameters were recorded, and correlated with PET outcomes.</p><p><strong>Results: </strong>64 enrolled patients, 12 were excluded, and 52 were analyzed. The mean patient age was 39.4 years (SD ± 10.7); 73.1% were women. Mean weight loss at 3 months was 22.8 kg (19.3% of initial body weight). No patients met criteria for definite PET at any time point. The proportion of patients with possible PET increased from 9.6% preoperatively to 23.1% at 3 months (<i>P</i> = .07). ETDQ-7 scores did not change significantly across time points (median 8-9; <i>P</i> = .55). No significant correlation was observed between magnitude of weight loss and PET outcomes.</p><p><strong>Conclusion: </strong>Despite significant weight loss, no confirmed cases of PET 3 months after bariatric surgery. These findings suggest that previously reported high PET incidence rates may reflect inconsistent diagnostic standards rather than true clinical pathology. Symptom-driven evaluation rather than routine PET screening may be more appropriate in the early postoperative period. Larger studies with longer follow-up are needed to assess long-term risk.</p>","PeriodicalId":19697,"journal":{"name":"OTO Open","volume":"10 3","pages":"e70282"},"PeriodicalIF":1.6,"publicationDate":"2026-07-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13393523/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148579628","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Early Subspecialty Exposure in Otolaryngology and Its Association With Medical Student Career Interests.","authors":"Kaitlin Hori, Ramon Bustos, Tingyu Yang, Tamara Chambers, Janet S Choi","doi":"10.1002/oto2.70263","DOIUrl":"10.1002/oto2.70263","url":null,"abstract":"<p><strong>Objective: </strong>Otolaryngology-Head and Neck Surgery (OHNS) experiences vary across medical schools and are often elective. Early exposure may play a role in shaping medical students' career and subspecialty interests. This study examined the associations of OHNS exposures during medical school with career and subspecialty interests among OHNS residency applicants.</p><p><strong>Study design: </strong>Cross-sectional survey study.</p><p><strong>Setting: </strong>National cohort of medical students applying to OHNS residency in the 2024 and 2025 National Resident Matching Program application cycles.</p><p><strong>Methods: </strong>A 29-item survey assessing demographics, exposure to OHNS subspecialties (clinical, operative, didactic, mentorship, and research), and career interests was distributed via Qualtrics™ to OHNS residency applicants through program directors, Otomatch.com, and direct outreach. Bivariate analyses (<i>t</i>-tests and chi-square) assessed associations between exposures and career/subspecialty interests.</p><p><strong>Results: </strong>Study cohort included 143 respondents (age, mean [SD] 27.5 [2.9] years; 56% female) across 37 US states with a response rate of 12.8%. In this cohort, 58.7% reported an interest in fellowship training. The highest reported subspecialty interests included Facial Plastics and Reconstructive Surgery (23.1%), Pediatric Otolaryngology (14.0%), and Head and Neck Surgery (12.6%). Clinical, mentorship, and research exposures were each associated with significantly greater interest scores in corresponding subspecialties.</p><p><strong>Conclusions: </strong>Early exposure to OHNS may play a formative role in shaping medical students' career and subspecialty interests. Structured and equitable exposure may better inform career and subspecialty interest and support a more diverse and balanced OHNS workforce.</p>","PeriodicalId":19697,"journal":{"name":"OTO Open","volume":"10 3","pages":"e70263"},"PeriodicalIF":1.6,"publicationDate":"2026-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13352136/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148422903","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Osteoradionecrosis of the Scalp: A Case Series Highlighting Clinical Challenges and Literature Gaps.","authors":"Claire M E Gleadhill, Charles J Gallego, Camila Hurtado, Troy J Weinstein, Jared R Robbins, Audrey H Baker","doi":"10.1002/oto2.70257","DOIUrl":"10.1002/oto2.70257","url":null,"abstract":"<p><strong>Objective: </strong>Cutaneous carcinoma of the scalp is a common, but underreported, and complications of scalp irradiation remain poorly described. Many patients receive primary or postoperative radiation to the scalp, and complications from treatment are not well described. Calvarial osteoradionecrosis can be difficult to treat, and it is imperative that research be done to learn more about this disease. In this case series, we attempt to define its incidence and identify risk factors for the development of osteoradionecrosis of the calvarium.</p><p><strong>Study design: </strong>Retrospective study.</p><p><strong>Setting: </strong>Single tertiary academic medical center.</p><p><strong>Methods: </strong>Information, including diagnosis, surgery, radiation dose, past medical history, time to bone exposure, and treatment, was analyzed for all patients undergoing scalp irradiation from 2018 to 2023.</p><p><strong>Results: </strong>Forty-five patients received scalp irradiation for cutaneous head and neck cancer, and 14 developed calvarial osteoradionecrosis. Ten patients had both their original surgery and radiation at our institution, yielding an institutional incidence of 24.4% of calvarial osteoradionecrosis. All patients who developed calvarial osteoradionecrosis originally underwent surgery followed by postoperative radiation, with the median amount of time between surgery and radiation being 42 days (36-114 days) and a median radiation dose of 57.5 grays in 25 fractions. The average time between completion of radiation therapy and development of osteoradionecrosis was 890 days (2.4 years). All patients were managed conservatively without surgical intervention, hospitalization, or intracranial complications.</p><p><strong>Conclusion: </strong>Osteoradionecrosis of the calvarium is an underreported late complication of scalp radiation that can be managed conservatively.</p>","PeriodicalId":19697,"journal":{"name":"OTO Open","volume":"10 3","pages":"e70257"},"PeriodicalIF":1.6,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13323170/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148376419","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Voice Outcomes of Patients Intubated for Critical COVID Illness: A Multicenter Study.","authors":"Francesco F Caruana, Alexander Gelbard, David Francis, Michael J Pitman, Elena P Kennedy, Joel Blumin, Jonathan Bock, Matthew Clary, Quinlyn Axelson, Laura Matrka, Patrick McGarey, James Daniero, Phillip Weissbrod, Yin Yiu, Daniel Gorelik, Robert J Morrison, Shady Soliman","doi":"10.1002/oto2.70234","DOIUrl":"10.1002/oto2.70234","url":null,"abstract":"<p><strong>Objective: </strong>Characterize the long-term vocal outcomes of patients who required ICU care for COVID-19 infection.</p><p><strong>Study design: </strong>Prospective cohort study.</p><p><strong>Setting: </strong>Multi-institutional North American Airway Collaborative Study.</p><p><strong>Methods: </strong>Patients with a COVID-19 diagnosis requiring ICU admission were identified via ICD-10 codes and recruited after discharge to complete patient-reported outcome measures (PROM) in voice (Voice Handicap Index: VHI-10), communication (Communicative Participation Item Bank: CPIB), and breathing (Clinical COPD Questionnaire: CCQ). Multivariate analysis investigated the association between clinical variables and PROMs.</p><p><strong>Results: </strong>308 patients enrolled; 271 were admitted with COVID to the ICU. 221 were intubated (81.5%); 50 patients admitted to the ICU did not require intubation (18.5%). Mean follow-up was 489 days after discharge (95% CI: 452-526). Mean intubation duration was 17 days (95% CI: 15-19). Median endotracheal tube (ETT) size was 7.5. Intubation was associated with higher VHI-10 score (15 vs 10; <i>P</i> = .01) and lower CPIB score (27 vs 30; <i>P</i> < .01). When controlling for ETT size, multivariate analysis did not show a relationship between intubation duration and VHI-10 or CPIB scores but was associated with worse CCQ score (<i>P</i> = .04).</p><p><strong>Conclusion: </strong>Survivors of COVID infection requiring ICU admission and intubation have persistent functional impairments in voicing and breathing more than 1 year after their hospitalization. While COVID survivorship and \"long COVID\" have centered on neuropsychiatric and metabolic outcomes, this study highlights the unappreciated negative impact of endotracheal intubation on voice and communication related to this illness and reinforces the relationship between duration of intubation and subjective dyspnea after surviving critical illness.</p>","PeriodicalId":19697,"journal":{"name":"OTO Open","volume":"10 3","pages":"e70234"},"PeriodicalIF":1.6,"publicationDate":"2026-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13317590/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148361948","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Aging and Hearing with Vestibular Schwannoma Beyond Presbycusis: A Large Cross-Sectional Audiometric and Volumetric Study.","authors":"Sami Barrit, Mejdeddine Al Barajraji, Salim El Hadwe, Jérome R Lechien, Daniele Morelli, Cécile Renier, Nicolas Massager","doi":"10.1002/oto2.70272","DOIUrl":"10.1002/oto2.70272","url":null,"abstract":"<p><strong>Objective: </strong>To identify predictors of auditory function in treatment-naïve vestibular schwannomas (VS) while accounting for age-related hearing loss, investigating baseline volumetrics and audiometrics in a pre-intervention stereotactic radiosurgery (SRS) cohort.</p><p><strong>Study design: </strong>Cross-sectional study.</p><p><strong>Setting: </strong>Single-center national SRS referral program with a prospective database.</p><p><strong>Methods: </strong>All consecutive patients with newly diagnosed unilateral VS and complete pre-intervention imaging and audiometric data were included. High-definition MRI and bone CT with co-registration and fusion enabled morphometric and volumetric analysis of VS and internal auditory canal (IAC) dimensions. Univariate tests, multivariate logistic regression with interaction terms, and regularized regression identified factors associated with serviceable hearing (Gardner-Robertson scores 1-2).</p><p><strong>Results: </strong>Among 533 patients (50.65% male, mean age 57.04 years), 72.6% had serviceable hearing. Median VS volume was 875.3 mm³ (IQR: 328.6-1732.5). The final multivariate model (AUC = 0.719) retained age (OR = 0.920, <i>P</i> = .0144), canal filling ratio (CFR; OR = 0.465, <i>P</i> = .0446), and a significant age × intracanalicular-to-total tumor volume ratio interaction (<i>P</i> = .0318). Age-stratified analyses revealed that the CFR-hearing relationship reversed across age groups: in younger patients (<40 years), higher canal filling was associated with better hearing preservation (94% vs 73%), while this pattern reversed in older patients (>60 years). Younger patients also demonstrated greater canal dilation (<i>P</i> = .002), though this lacked independent predictive value (<i>P</i> = .366).</p><p><strong>Conclusion: </strong>While age dominates hearing prediction in VS, canal filling ratio significantly modifies this relationship in an age-dependent manner, representing a clinically accessible imaging biomarker with age-specific thresholds and effects.</p>","PeriodicalId":19697,"journal":{"name":"OTO Open","volume":"10 3","pages":"e70272"},"PeriodicalIF":1.6,"publicationDate":"2026-06-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13313088/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148353134","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Use of Contralateral AEA-Pedicled Septal Flap Combined With HBF for Complex Skull Base Defects.","authors":"Shichang Li, Bao-Feng Wang, Ping-Ping Cao","doi":"10.1002/oto2.70277","DOIUrl":"10.1002/oto2.70277","url":null,"abstract":"","PeriodicalId":19697,"journal":{"name":"OTO Open","volume":"10 3","pages":"e70277"},"PeriodicalIF":1.6,"publicationDate":"2026-06-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13313087/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148353012","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Patient-Reported Swallowing Outcomes ≥5 Years After Neoadjuvant Chemotherapy and Transoral Robotic Surgery for HPV-positive Oropharyngeal Carcinoma.","authors":"Sandhya Ganesan, Sana Smaoui, Leena Zitoun, Tyler P Tufano, Esther Lee, Punam Thakkar, Arjun Joshi","doi":"10.1002/oto2.70267","DOIUrl":"10.1002/oto2.70267","url":null,"abstract":"<p><strong>Objective: </strong>To evaluate long-term swallowing outcomes in patients with HPV-associated oropharyngeal squamous cell carcinoma (HPV + OPSCC) following neoadjuvant chemotherapy (NAC) and transoral robotic surgery (TORS) (NAC + S).</p><p><strong>Study design: </strong>Retrospective cross-sectional study.</p><p><strong>Setting: </strong>Single academic institution.</p><p><strong>Methods: </strong>Patients completed the MD Anderson Dysphagia Inventory (MDADI) at various time points following the completion of treatment. Patients requiring adjuvant treatment, experiencing recurrent disease, or who did not complete an MDADI at least 5 years following treatment were excluded from the study. A linear regression model was explored to determine the relationship between time since treatment and MDADI score.</p><p><strong>Results: </strong>A total of 21 patients treated with the NAC + S protocol were included. The average time between treatment and the most recent follow-up was 101.5 months. 1 patient had a composite MDADI score indicating poor function (<60), 3 indicating adequate function (≥60 to <80), and 17 indicating optimal function (≥80). There was no significant change in overall MDADI score (<i>P</i> = .469), global score (<i>P</i> = .163), emotional score (<i>P</i> = .528), and physical score (<i>P</i> = .903) over time. A small yet significant improvement in functional score of 1.06 points per year was seen over time (<i>P</i> = .0096).</p><p><strong>Conclusion: </strong>Patients who were successfully treated with NAC + S maintain their favorable swallowing outcomes on long-term follow-up. A small improvement in functional MDADI sub-score may represent compensatory strategies or rehabilitation over time.</p>","PeriodicalId":19697,"journal":{"name":"OTO Open","volume":"10 3","pages":"e70267"},"PeriodicalIF":1.6,"publicationDate":"2026-06-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13313090/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148353060","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Development and Evaluation of the Adenoid/Nasopharynx Area Ratio on Lateral Cephalograms: Correlation With Nasal Endoscopy.","authors":"Jiaming Zhu, Le Chen, Xiaoli Zhou, Wenyan Li","doi":"10.1002/oto2.70273","DOIUrl":"10.1002/oto2.70273","url":null,"abstract":"<p><strong>Objective: </strong>The clinical assessment of adenoid hypertrophy presents 2 practical challenges: (1) the need for an objective, reproducible estimate of nasopharyngeal obstruction in children when cooperation is limited and (2) the need for a reliable radiographic metric to support interdisciplinary assessment and communication between dental/orthodontic providers and otolaryngologists. To address these challenges, this study aimed to evaluate the diagnostic performance of a novel radiographic index-Adenoid/Nasopharynx Area Ratio-derived from lateral cephalometric radiographs.</p><p><strong>Study design: </strong>Retrospective cohort study.</p><p><strong>Setting: </strong>Eye & ENT Hospital of Fudan University and affiliated orthodontic clinics, Shanghai, China (June 2023-August 2024).</p><p><strong>Methods: </strong>Consecutive children aged 2 to 14 years flagged for suspected adenoid hypertrophy during routine dental examinations were screened; eligible participants were enrolled after prespecified exclusions. De-identified data were analyzed between August and October 2024.</p><p><strong>Results: </strong>ANAR showed a numerically higher correlation with endoscopic grades than the A/N ratio (<i>r</i> = 0.649 vs 0.603). For severe obstruction, ANAR cutoff 0.64 yielded sensitivity 70.9% and specificity 82.3% (AUC 0.834; 95% CI, 0.76-0.90); the A/N ratio AUC was 0.793. Inter-rater reliability for ANAR measurement was good (intraclass correlation coefficient [A,1] = 0.924; 95% confidence interval, 0.848-0.963; n = 30).</p><p><strong>Conclusion: </strong>Adenoid/Nasopharynx Area Ratio is a practical, reproducible planimetric index derived from lateral cephalograms that may support opportunistic upper airway assessment when imaging is already obtained for dental/orthodontic care. Nasal endoscopy remains the reference standard; ANAR is complementary, and additional radiographs solely for adenoid evaluation are not recommended.</p>","PeriodicalId":19697,"journal":{"name":"OTO Open","volume":"10 3","pages":"e70273"},"PeriodicalIF":1.6,"publicationDate":"2026-06-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13312990/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148352899","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Telephone-Based Triage After Pediatric Tonsillectomy: A Retrospective Analysis.","authors":"Alyssa C Chapel, Neila Kline, Saudamini Lele, Felicity M B Lenes-Voit, Romaine Johnson, Cynthia Wang","doi":"10.1002/oto2.70274","DOIUrl":"10.1002/oto2.70274","url":null,"abstract":"<p><strong>Objective: </strong>To describe posttonsillectomy telephone triage utilization and short-term outcomes in a single tertiary pediatric system.</p><p><strong>Study design: </strong>Retrospective cohort study.</p><p><strong>Setting: </strong>Tertiary care children's hospital.</p><p><strong>Methods: </strong>All patients aged 0 to 18 years (N = 12,167) who underwent tonsillectomy between January 2020 and December 2024 were included. Primary outcomes included timing and type of telephone calls, emergency department (ED) visits, and bleeding events within 30 postoperative days. Secondary outcomes included intervention rates based on presentation pathway (telephone triage vs direct ED presentation).</p><p><strong>Results: </strong>Among 12,167 patients, 2483 (20.4%) contacted telephone triage within 30 days. Of callers, 2273 (91.5%) were managed without ED referral; 210 (8.5%) were referred to the emergency department. Of bleeding related calls, 111 (66.9%) were managed without ED referral, and 41/60 (68.3%) patients referred to the ED did not require surgical intervention. Telephone triage demonstrated 91.5% effectiveness and prevented 2273 ED visits. Patients utilizing telephone-based triage were more likely to have Medicaid insurance (<i>P</i> < .001) and live in high-disadvantage neighborhoods (<i>P</i> < .001).</p><p><strong>Conclusions and relevance: </strong>Telephone-based triage is an effective measure to help reduce ED visits for pediatric posttonsillectomy patients. The majority of patients who utilized telephone-based triage were successfully managed at home across all types of complications. There is a potential $158,000 to $360,000 in healthcare savings seen after implementing this program. High-disadvantage patients were more likely to use telephone-based triage but achieved similar outcomes to low-disadvantaged peers. In this cohort, a structured phone-triage pathway safely managed most concerns without ED referral.</p>","PeriodicalId":19697,"journal":{"name":"OTO Open","volume":"10 3","pages":"e70274"},"PeriodicalIF":1.6,"publicationDate":"2026-06-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13312977/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148352999","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Comprehensive Analysis and Genetic Insights Into GJB2 c.35delG Mutation-Associated Non-Syndromic Hearing Loss in Morocco.","authors":"El Mostafa Salman, Meriem El Qabli, Loubna Soufian, Maria Mansouri, Fatima Zahrae Bouzid, Omar Oulghoul, Mohamed Chehbouni, Youssef Lakhdar, Youssef Rochdi, Abdelaziz Raji, Nisrine Aboussair","doi":"10.1002/oto2.70276","DOIUrl":"10.1002/oto2.70276","url":null,"abstract":"<p><strong>Objective: </strong>To assess the prevalence of the <i>GJB2</i> c.35delG mutation among Moroccan patients with nonsyndromic sensorineural hearing loss (NSHL) and compare it with frequencies reported in other North African populations.</p><p><strong>Study design: </strong>Retrospective cohort study.</p><p><strong>Setting: </strong>Multidisciplinary tertiary care hearing loss genetics clinic.</p><p><strong>Methods: </strong>A total of 304 unrelated Moroccan patients with prelingual bilateral (NSHL), recruited between May 2022 and June 2025, were included. Genomic Deoxyribonucleic Acid (DNA) was extracted from peripheral blood samples, and the c.35delG mutation was detected via PCR amplification and Sanger sequencing. Demographic and clinical data, including age at diagnosis, sex, and family history, were systematically collected.</p><p><strong>Results: </strong>The c.35delG mutation contributed to 18% of (NSHL) cases in this cohort, with homozygosity being the most frequent genotype. The mutation was especially prevalent in patients from consanguineous families. Clinically, hearing loss was early-onset, bilateral, and mostly profound, demonstrating a strong genotype-phenotype correlation. The observed frequency aligns with regional data from other North African populations, reflecting a shared genetic background.</p><p><strong>Conclusion: </strong>The c.35delG mutation is a major cause of (NSHL) in Morocco, though slightly less frequent than reported in previous national studies. These findings support incorporating <i>GJB2</i> genetic screening into early diagnostics, genetic counseling, and targeted prevention programs, particularly in populations with high consanguinity rates.</p>","PeriodicalId":19697,"journal":{"name":"OTO Open","volume":"10 3","pages":"e70276"},"PeriodicalIF":1.6,"publicationDate":"2026-06-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13312976/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148353152","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}