JAMA otolaryngology-- head & neck surgery最新文献

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Chronic Sinusitis With Orbitonasal Bony Defect. 慢性鼻窦炎伴眶鼻骨缺损。
IF 5.6 1区 医学
JAMA otolaryngology-- head & neck surgery Pub Date : 2026-04-30 DOI: 10.1001/jamaoto.2026.0717
Brooke Swain, John K Choi, Bradford A Woodworth
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引用次数: 0
Decoding the Black Box in Deep Learning Models-Reply. 解码深度学习模型中的黑盒子-回复。
IF 5.6 1区 医学
JAMA otolaryngology-- head & neck surgery Pub Date : 2026-04-30 DOI: 10.1001/jamaoto.2026.0855
Sergio L Novi, Amal Isaiah
{"title":"Decoding the Black Box in Deep Learning Models-Reply.","authors":"Sergio L Novi, Amal Isaiah","doi":"10.1001/jamaoto.2026.0855","DOIUrl":"https://doi.org/10.1001/jamaoto.2026.0855","url":null,"abstract":"","PeriodicalId":14632,"journal":{"name":"JAMA otolaryngology-- head & neck surgery","volume":" ","pages":""},"PeriodicalIF":5.6,"publicationDate":"2026-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147771510","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"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
Decoding the Black Box in Deep Learning Models. 破解深度学习模型中的黑匣子。
IF 5.6 1区 医学
JAMA otolaryngology-- head & neck surgery Pub Date : 2026-04-30 DOI: 10.1001/jamaoto.2026.0852
Kristoffer Mazanti Cold
{"title":"Decoding the Black Box in Deep Learning Models.","authors":"Kristoffer Mazanti Cold","doi":"10.1001/jamaoto.2026.0852","DOIUrl":"https://doi.org/10.1001/jamaoto.2026.0852","url":null,"abstract":"","PeriodicalId":14632,"journal":{"name":"JAMA otolaryngology-- head & neck surgery","volume":" ","pages":""},"PeriodicalIF":5.6,"publicationDate":"2026-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147771521","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"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
Margins. 利润率。
IF 5.6 1区 医学
JAMA otolaryngology-- head & neck surgery Pub Date : 2026-04-30 DOI: 10.1001/jamaoto.2026.0041
Henry Bair
{"title":"Margins.","authors":"Henry Bair","doi":"10.1001/jamaoto.2026.0041","DOIUrl":"https://doi.org/10.1001/jamaoto.2026.0041","url":null,"abstract":"","PeriodicalId":14632,"journal":{"name":"JAMA otolaryngology-- head & neck surgery","volume":" ","pages":""},"PeriodicalIF":5.6,"publicationDate":"2026-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147771513","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"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
Quantifying Ergonomic Risk Among Otolaryngology Surgeons. 量化耳鼻喉外科医生的人体工程学风险。
IF 5.6 1区 医学
JAMA otolaryngology-- head & neck surgery Pub Date : 2026-04-30 DOI: 10.1001/jamaoto.2026.0746
Jacqueline Oh, Kirtana Kumar, Michael Li, Joanna George, Peter Berryman, Daniel Cheong, Michael Machiorlatti, Rusha Patel
{"title":"Quantifying Ergonomic Risk Among Otolaryngology Surgeons.","authors":"Jacqueline Oh, Kirtana Kumar, Michael Li, Joanna George, Peter Berryman, Daniel Cheong, Michael Machiorlatti, Rusha Patel","doi":"10.1001/jamaoto.2026.0746","DOIUrl":"10.1001/jamaoto.2026.0746","url":null,"abstract":"<p><strong>Importance: </strong>Performing otolaryngology operations requires sustained static posture and precision in confined spaces, placing surgeons at high risk of musculoskeletal strain. Ergonomic challenges have been implicated in acute discomfort and long-term disability, yet prospective intraoperative assessments remain limited.</p><p><strong>Objective: </strong>To quantify intraoperative ergonomic risk and acute musculoskeletal pain among otolaryngologists during surgical procedures and to examine demographic and procedural factors associated with discomfort.</p><p><strong>Design, setting, and participants: </strong>This prospective cross-sectional study was conducted at a single academic institution from August 2024 to March 2025. Eligible participants included otolaryngology surgeons (residents, fellows, or attending physician faculty) actively performing head and neck operations during the study period.</p><p><strong>Main outcomes and measures: </strong>Primary outcomes included preoperative and postoperative numeric pain scores (0-10 scale) and intraoperative ergonomic risk, assessed using the Rapid Upper Limb Assessment (RULA). Secondary outcomes included baseline Neck Disability Index, Oswestry Low Back Disability scores, and associations of demographic and procedural variables with pain.</p><p><strong>Results: </strong>Seventeen otolaryngology surgeons (12 residents/fellows, 5 attending physicians) actively performing head and neck operations participated in the study. The mean (SD) age of surgeons was 35.6 (10.6) years; 5 participants (29%) were female, and 12 (71%) were male. Among the 17 otolaryngologists observed across 80 operations, 970 intraoperative RULA scores were collected. Overall, 143 of 386 attending physician (37%) and 249 of 584 resident scores (43%) indicated medium to high ergonomic risk (RULA 5-7). In mixed-effects modeling, greater case difficulty was associated with increased pain scores, and larger glove size was associated with higher pain scores. No significant associations were observed between pain scores and surgeon weight, sex, age, training level, or the length or type of procedure. RULA scores increased with operative duration, especially among surgeons 40 years and older. Postoperative surveys indicated that 23 of 80 procedures (28.8%) required intraoperative position changes due to discomfort, with 7 (8.8%) reporting distraction due to pain, 2 (2.5%) requiring a break, and 1 (1.3%) reporting interference with surgical performance.</p><p><strong>Conclusions and relevance: </strong>In this cross-sectional study, otolaryngology surgeons experienced measurable increases in pain and sustained high rates of intraoperative ergonomic risk, even during routine procedures. Hand size was associated with greater intraoperative discomfort, underscoring the multifactorial nature of ergonomic strain during operations. These findings highlight the urgent need for increased ergonomic awareness, targeted training, ","PeriodicalId":14632,"journal":{"name":"JAMA otolaryngology-- head & neck surgery","volume":" ","pages":""},"PeriodicalIF":5.6,"publicationDate":"2026-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13133720/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147771610","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Safety of Hypotensive Agents in Endoscopic Sinus Surgery-Reply. 内窥镜鼻窦手术中降压药的安全性:回复。
IF 5.6 1区 医学
JAMA otolaryngology-- head & neck surgery Pub Date : 2026-04-23 DOI: 10.1001/jamaoto.2026.0590
Abdelrahman Saeed, Omar Saeed, Muhammed Elhadi
{"title":"Safety of Hypotensive Agents in Endoscopic Sinus Surgery-Reply.","authors":"Abdelrahman Saeed, Omar Saeed, Muhammed Elhadi","doi":"10.1001/jamaoto.2026.0590","DOIUrl":"https://doi.org/10.1001/jamaoto.2026.0590","url":null,"abstract":"","PeriodicalId":14632,"journal":{"name":"JAMA otolaryngology-- head & neck surgery","volume":" ","pages":""},"PeriodicalIF":5.6,"publicationDate":"2026-04-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147771647","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"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
MDASI-HN Symptom Profiling for Early-Risk Stratification of Hypoglossal Neuropathy in Survivors of Oropharyngeal Cancer. 口咽癌幸存者舌下神经病变早期危险分层的MDASI-HN症状分析。
IF 5.6 1区 医学
JAMA otolaryngology-- head & neck surgery Pub Date : 2026-04-23 DOI: 10.1001/jamaoto.2026.0518
Wenye Song, Christine B Peterson, Ariana Sahli, Xiaowen Sun, Carly Barbon, Amy C Moreno, Nicolaas C Anderson, Holly McMillan, J Jack Lee, Steven J Frank, Clifton David Fuller, Stephen Y Lai, Katherine Hutcheson
{"title":"MDASI-HN Symptom Profiling for Early-Risk Stratification of Hypoglossal Neuropathy in Survivors of Oropharyngeal Cancer.","authors":"Wenye Song, Christine B Peterson, Ariana Sahli, Xiaowen Sun, Carly Barbon, Amy C Moreno, Nicolaas C Anderson, Holly McMillan, J Jack Lee, Steven J Frank, Clifton David Fuller, Stephen Y Lai, Katherine Hutcheson","doi":"10.1001/jamaoto.2026.0518","DOIUrl":"https://doi.org/10.1001/jamaoto.2026.0518","url":null,"abstract":"<p><strong>Importance: </strong>Hypoglossal (CN XII) neuropathy is a debilitating latent toxic effect in survivors of oropharyngeal cancer (OPC), which is often underdiagnosed due to its delayed onset and subtle early signs and symptoms. There is no established patient-reported outcome tool to aid early detection.</p><p><strong>Objective: </strong>To evaluate selected MD Anderson Symptom Inventory-Head and Neck (MDASI-HN) symptom items for predicting CN XII neuropathy risk and derive a composite symptom-based nerve score (MDASI-HN-NERVE) with an optimal threshold for early risk stratification.</p><p><strong>Design, setting, and participants: </strong>This retrospective analysis used data from a prospective cohort study of 1297 patients with OPC who were treated with curative intent at MD Anderson Cancer Center between March 2015 and December 2023. Eligible patients completed symptom assessments at baseline and regular follow-up intervals for up to 5 years. CN XII neuropathy status was classified based on documented clinical signs through a structured health record review. Data were analyzed in June 2025.</p><p><strong>Main outcomes and measures: </strong>Symptom trajectories of 6 MDASI-HN items (chewing/swallowing, choking, speech/voice, mucus, fatigue, and dry mouth) were analyzed using spaghetti plots and piecewise linear mixed-effects models. A MDASI-HN-NERVE score was derived from these items to quantify CN XII neuropathy-associated symptom burden. Time-dependent Cox models and Kaplan-Meier analyses were used to assess the risk of developing CN XII neuropathy, and optimal cut-off values were identified.</p><p><strong>Results: </strong>Of 1297 participants, 141 (10.9%) were female and 1156 (89.1%) were male; the mean (SD) age was 65.9 (9.2) years. Higher MDASI-HN-NERVE scores were associated with an increased risk of CN XII neuropathy (hazard ratio, 1.35; 95% CI, 1.18-1.54). An optimal threshold of 3.4 at baseline and 3.5 at 3 to 6 months posttreatment distinguished high-risk vs low-risk groups with significantly different CN XII neuropathy-free survival. Single-item MDASI speech/voice scores at baseline and 3 to 6 months also discriminated latent CN XII neuropathy risk.</p><p><strong>Conclusions and relevance: </strong>The results of this cohort study suggest that MDASI-HN speech/voice symptoms and the MDASI-HN-NERVE score may provide a practical, patient-centered approach to aid early detection and monitoring of CN XII neuropathy risk. These findings provide early evidence to support the clinical use of MDASI-HN-based surveillance in oropharyngeal cancer survivorship care.</p>","PeriodicalId":14632,"journal":{"name":"JAMA otolaryngology-- head & neck surgery","volume":" ","pages":""},"PeriodicalIF":5.6,"publicationDate":"2026-04-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13107317/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147771574","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Sustained Locoregional Control With Deintensified Chemoradiotherapy for HPV Oropharyngeal Carcinoma. 去强化放化疗对HPV口咽癌的持续局部控制。
IF 5.6 1区 医学
JAMA otolaryngology-- head & neck surgery Pub Date : 2026-04-23 DOI: 10.1001/jamaoto.2026.0617
Ryan T Morse, Ying Cao, Victoria Xu, Jared Weiss, Siddharth Sheth, Shetal Patel, Jeffrey M Blumberg, Wendell G Yarbrough, Catherine Lumley, Trevor Hackman, Samip Patel, Stephen B Huff, Michael C Repka, Roi Dagan, William Mendenhall, Colette J Shen, Xuguang S Chen, Bhishamjit S Chera
{"title":"Sustained Locoregional Control With Deintensified Chemoradiotherapy for HPV Oropharyngeal Carcinoma.","authors":"Ryan T Morse, Ying Cao, Victoria Xu, Jared Weiss, Siddharth Sheth, Shetal Patel, Jeffrey M Blumberg, Wendell G Yarbrough, Catherine Lumley, Trevor Hackman, Samip Patel, Stephen B Huff, Michael C Repka, Roi Dagan, William Mendenhall, Colette J Shen, Xuguang S Chen, Bhishamjit S Chera","doi":"10.1001/jamaoto.2026.0617","DOIUrl":"https://doi.org/10.1001/jamaoto.2026.0617","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Importance: &lt;/strong&gt;Standard treatment for human papillomavirus (HPV)-associated oropharyngeal carcinoma (OPC) often includes 7 weeks of intensive chemoradiotherapy with substantial toxic effects. Lowering the radiation dose to gross disease may maintain cancer control with fewer toxic effects.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Objective: &lt;/strong&gt;To evaluate long-term oncologic outcomes among patients with HPV-associated OPC treated with definitive deintensified (chemo)radiotherapy.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Design, setting, and participants: &lt;/strong&gt;This cohort study evaluated consecutive patients treated with (chemo)radiotherapy between September 2014 and August 2022 at multiple institutions under one academic hospital system. Eligible patients had p16-positive OPC with a clinical stage from T0 to T3 and N0 to N2c (according to the American Joint Committee on Cancer [AJCC] Staging Manual, seventh edition) and favorable smoking history. Data were analyzed between August 2023 and October 2025.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Interventions: &lt;/strong&gt;Treatment was 60-Gy intensity-modulated radiotherapy with first-choice concurrent chemotherapy of weekly cisplatin, 30 mg/m2, or weekly cisplatin, 40 mg/m2. Patients with OPC with a clinical stage from T0 to T2 and N0 to N1 (according to AJCC, seventh edition) were recommended 60-Gy radiotherapy alone.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Main outcomes and measures: &lt;/strong&gt;Evaluation of locoregional recurrence was the primary outcome. Distant recurrence, progression-free survival (PFS), and overall survival (OS) were secondary outcomes.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Results: &lt;/strong&gt;A total of 240 patients received definitive deintensified (chemo)radiotherapy (207 receiving prospective protocol-adherent treatment and 33 receiving non-protocol-adherent treatment). Mean (SD) patient age was 60.3 (9.9) years (range, 33.0-84.0 years); 206 (85.8%) were male, and 34 (14.2%) were female. The cohort included 139 never smokers (57.9%) and 101 former smokers (42.1%) (median smoking history, 9.0 pack-years [range, 0.25-50.0 pack-years]). Concurrent chemotherapy was prescribed for 205 patients (85.4%), with 185 (77.1%) receiving cisplatin, and 165 (68.8%) receiving weekly cisplatin, 30 mg/m2. Median follow-up for surviving patients was 6.5 years (range, 0.44-11.0 years; 208 of 210 [99.0%] with minimum 2-year follow-up). Outcomes were as follows: 2-year OS was 97.9% (95% CI, 96.1%-99.7%), and 5-year OS, 92.4% (95% CI, 89.0%-96.0%); 2-year PFS, 94.1% (95% CI, 91.2%-97.2%), and 5-year PFS, 86.5% (95% CI, 82.1%-91.0%); 2-year locoregional recurrence, 1.3% (95% CI, -0.2% to 2.7%), and 5-year locoregional recurrence, 3.4% (95% CI, 1.1%-5.8%); 2-year distant recurrence, 4.6% (95% CI, 1.9%-7.3%), and 5-year distant recurrence, 7.3% (95% CI, 3.9%-10.7%). The median time to progression events was 1.9 years (range, 0.3-5.1 years); 12 of 26 recurrences (46.2%) occurred after 2 years. Thirty-three patients with low-risk disease (clinical stage T0-T2, N0-N1, according to AJCC, seventh edition) rece","PeriodicalId":14632,"journal":{"name":"JAMA otolaryngology-- head & neck surgery","volume":" ","pages":""},"PeriodicalIF":5.6,"publicationDate":"2026-04-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13107312/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147771608","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Safety of Hypotensive Agents in Endoscopic Sinus Surgery. 鼻窦内窥镜手术中降压药的安全性。
IF 5.6 1区 医学
JAMA otolaryngology-- head & neck surgery Pub Date : 2026-04-23 DOI: 10.1001/jamaoto.2026.0587
Ming-Hui Hung, Shu-Yueh Cheng
{"title":"Safety of Hypotensive Agents in Endoscopic Sinus Surgery.","authors":"Ming-Hui Hung, Shu-Yueh Cheng","doi":"10.1001/jamaoto.2026.0587","DOIUrl":"https://doi.org/10.1001/jamaoto.2026.0587","url":null,"abstract":"","PeriodicalId":14632,"journal":{"name":"JAMA otolaryngology-- head & neck surgery","volume":" ","pages":""},"PeriodicalIF":5.6,"publicationDate":"2026-04-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147771559","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"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
Association of PHEX Gene Dosage With Meniere Disease and Related Audiovestibular Phenotypes in X-Linked Hypophosphatemia. x连锁低磷血症患者PHEX基因剂量与梅尼埃病及相关听庭表型的关系
IF 5.6 1区 医学
JAMA otolaryngology-- head & neck surgery Pub Date : 2026-04-16 DOI: 10.1001/jamaoto.2026.0021
Paula Robles-Bolivar, David Bächinger, Arpan Bose, Kimberly Ramirez, Alison Brown, Amy F Juliano, Jose Antonio Lopez-Escamez, Sharon G Kujawa, Eva S Liu, Sami S Amr, Steven D Rauch, Andreas H Eckhard, Divya A Chari
{"title":"Association of PHEX Gene Dosage With Meniere Disease and Related Audiovestibular Phenotypes in X-Linked Hypophosphatemia.","authors":"Paula Robles-Bolivar, David Bächinger, Arpan Bose, Kimberly Ramirez, Alison Brown, Amy F Juliano, Jose Antonio Lopez-Escamez, Sharon G Kujawa, Eva S Liu, Sami S Amr, Steven D Rauch, Andreas H Eckhard, Divya A Chari","doi":"10.1001/jamaoto.2026.0021","DOIUrl":"10.1001/jamaoto.2026.0021","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Importance: &lt;/strong&gt;Meniere disease (MD) is a heterogenous disorder whose underlying etiologies remain poorly understood. A subtype of MD characterized by endolymphatic sac (ES) underdevelopment (ES hypoplasia), frequent bilateral disease, and male predominance-termed MD-hp-has emerged as a promising model for genetic investigation.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Objective: &lt;/strong&gt;To test whether the PHEX gene underlies the association of XLH with MD-hp.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Design, setting, and participants: &lt;/strong&gt;This prospective, cross-sectional, study was conducted at tertiary academic centers in the US (Boston, Massachusetts) and Switzerland (Zurich) from January 2021 to August 2024. Participants aged 18 years and older with XLH were recruited. Data were analyzed from October 2024 to August 2025.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Exposure: &lt;/strong&gt;Diagnosis of XLH.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Main outcomes and measures: &lt;/strong&gt;The primary outcome was co-occurrence of XLH and MD-hp as compared with population prevalences. MD-hp assessment included pure-tone audiometry and speech-intelligibility testing, vestibular function testing via caloric and video head-impulse testing, symptom history indicating definite MD criteria, high-resolution computed tomography assessment of ES hypoplasia (angular trajectory of the vestibular aqueduct ≥140°), delayed 3-dimensional fluid-attenuated inversion recovery magnetic resonance imaging for detection of endolymphatic hydrops, and PHEX pathway gene sequencing.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Results: &lt;/strong&gt;Given population prevalences of XLH (approximately 0.005%), MD (approximately 0.2%), and MD-hp (approximately 30% of MD), random co-occurrence would be approximately 1 in 33 million. In this cohort of 33 patients (10 male; mean [SD] age, 53.1 [13.0] years and 23 female; mean [SD] age, 46.2 [17.6] years), 6 (18.2%) met bilateral MD-hp criteria (approximately 1 in 5.5 patients)-a more than 6 million-fold enrichment. All 6 case patients were hemizygous males (including 2 males with fluctuating-progressive sensorineural hearing loss but no vertigo). Two additional hemizygous males younger than 40 years displayed bilateral ES hypoplasia without clinical MD, and 2 males with mosaic or hypomorphic PHEX variants showed normal ES anatomy and no audiovestibular symptoms. No female carriers met MD-hp criteria; instead, 5 females exhibited mild to moderate, low- to mid-frequency sensorineural hearing loss without vertigo, and 2 females had isolated conductive hearing loss.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Conclusions and relevance: &lt;/strong&gt;These findings support an inner ear-specific PHEX gene-dosage threshold model for MD-hp penetrance; complete loss of function in hemizygous males leads to bilateral ES hypoplasia and MD, whereas mosaic or partial-loss variants in males-and heterozygosity in females-permit residual PHEX activity, resulting in milder or absent audiovestibular phenotypes. This genotype-endotype-phenotype linkage (complete PHEX loss, ES hypoplasia, and MD) enables early ri","PeriodicalId":14632,"journal":{"name":"JAMA otolaryngology-- head & neck surgery","volume":" ","pages":""},"PeriodicalIF":5.6,"publicationDate":"2026-04-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13087905/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147698297","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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