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Investigation of Expectations and Satisfaction After Sinus Surgery for Chronic Rhinosinusitis. 慢性鼻窦炎鼻窦手术后的期望和满意度调查。
IF 2.2 3区 医学
Laryngoscope Pub Date : 2024-10-01 DOI: 10.1002/lary.31770
Jose L Mattos, Haleigh Hopper, Zachary Soler, Jess C Mace, Rodney J Schlosser, Spencer C Payne, Timothy L Smith, Meghan K Mattos
{"title":"Investigation of Expectations and Satisfaction After Sinus Surgery for Chronic Rhinosinusitis.","authors":"Jose L Mattos, Haleigh Hopper, Zachary Soler, Jess C Mace, Rodney J Schlosser, Spencer C Payne, Timothy L Smith, Meghan K Mattos","doi":"10.1002/lary.31770","DOIUrl":"10.1002/lary.31770","url":null,"abstract":"<p><strong>Objective: </strong>To perform the first mixed-methods analysis of patient expectations and satisfaction after endoscopic sinus surgery (ESS).</p><p><strong>Methods: </strong>Semi-structured interviews of subjects undergoing ESS were performed to understand pre-operative expectations and 6-month post-operative satisfaction. Descriptive statistics, logistic regression, and mediation analyses were performed. Quantitative questions were followed by qualitative probes for subjects to expand on quantitative answers. Study sample size was determined by thematic saturation based on qualitative responses. Data visualization was used to triangulate quantitative and qualitative data wherein themes emerged.</p><p><strong>Results: </strong>A total of 52 participants were included in the mixed-method analysis, and 110 were included in the mediation analysis. 56% of participants were male, with an average age of 55.7 (SD ± 2.18). Mean change in SNOT-22 was 20.8 (SD ± 3.74), and 25% of participants did not achieve a minimal clinically important difference (MCID). Of the participants who did not achieve MCID, 79% would still choose to have sinus surgery again. Qualitative interviews revealed multiple preliminary categories describing the patient experience with ESS. Regression analysis showed that the most important predictor of satisfaction was whether pre-operative expectations were met (OR = 3.8, p < 0.001). In mediation analysis, the effect of the clinical outcome on patient satisfaction was completely mediated by pre-operative expectations (indirect effect p = 0.009, direct effect p = 0.17).</p><p><strong>Conclusion: </strong>Patient expectations and satisfaction are important yet understudied measures in CRS and ESS. In ESS, satisfaction with outcome is driven by the fulfillment of pre-operative expectations. Aligning such expectations is the most important intervention a sinus surgeon can perform to maximize success.</p><p><strong>Level of evidence: </strong>4 Laryngoscope, 2024.</p>","PeriodicalId":49921,"journal":{"name":"Laryngoscope","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142331258","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
Anatomic-Based Technique for Sensing Lead Placement in Hypoglossal Stimulator Implantation. 基于解剖学的舌下刺激器植入导线定位感应技术
IF 2.2 3区 医学
Laryngoscope Pub Date : 2024-10-01 DOI: 10.1002/lary.31803
Keith Volner, Christopher Hartnick
{"title":"Anatomic-Based Technique for Sensing Lead Placement in Hypoglossal Stimulator Implantation.","authors":"Keith Volner, Christopher Hartnick","doi":"10.1002/lary.31803","DOIUrl":"https://doi.org/10.1002/lary.31803","url":null,"abstract":"<p><p>Placement of the sensing lead can be challenging in obese and Down syndrome patients. This article presents an alteration in technique for its placement for these patient populations. Laryngoscope, 2024.</p>","PeriodicalId":49921,"journal":{"name":"Laryngoscope","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142331252","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
Newborn Hearing Screening Success… Patient Care Failure. 新生儿听力筛查的成功......患者护理的失败。
IF 2.2 3区 医学
Laryngoscope Pub Date : 2024-09-30 DOI: 10.1002/lary.31806
Akailah Jennings, Glenn Isaacson
{"title":"Newborn Hearing Screening Success… Patient Care Failure.","authors":"Akailah Jennings, Glenn Isaacson","doi":"10.1002/lary.31806","DOIUrl":"https://doi.org/10.1002/lary.31806","url":null,"abstract":"<p><strong>Objective: </strong>To assess the efficacy of a newborn hearing screening program in an urban hospital 24 years after a longitudinal study identified failings in its program and recommended solutions.</p><p><strong>Methods: </strong>A hospital-specific, Pennsylvania database was queried to determine rates of in-hospital testing, referral, and diagnosis for Temple University Hospital (TUH), and to compare these with reporting sites statewide. At TUH, interviews with newborn hearing screeners and audiologists were conducted to identify barriers to care.</p><p><strong>Results: </strong>In the year 2022, 2,006/2,069 newborns (97%) were successfully screened prior to hospital discharge at TUH. (63 babies were never tested). There were 73 who did not pass automated auditory brainstem response testing (ABR) in at least one ear. All of these 73 infants returned for repeat automated ABR testing and 50/73 passed in both ears. 23/2006 (1%) were referred to diagnostic testing. 13/23 were successfully scheduled. 11/23 passed in both ears. 2/13 were found to have hearing losses. 10 infants (43%) were lost to follow-up and were never diagnosed. Examining lost-to-follow-up rates statewide, we identified a relationship between successful follow-up and local median family income.</p><p><strong>Conclusion: </strong>Legislation on the state level and improvements in audiometric technology have led to highly successful in-hospital screening with relatively low false-positive rates. Despite this, inadequate outpatient follow-up testing and inequities in the American health care system continue to delay audiometric diagnosis and habilitation of congenital hearing loss. Lack of transportation, childcare for siblings, and newborn insurance status impede access to diagnostic testing.</p><p><strong>Level of evidence: </strong>Level 3 evidence-retrospective review comparing cases and controls. Laryngoscope, 2024.</p>","PeriodicalId":49921,"journal":{"name":"Laryngoscope","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2024-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142331260","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
What is the Optimal Anticoagulation in HGNS Surgery in Patients with High-risk Cardiac Comorbidities? 高危心脏病患者接受 HGNS 手术时的最佳抗凝治疗是什么?
IF 2.2 3区 医学
Laryngoscope Pub Date : 2024-09-28 DOI: 10.1002/lary.31798
Michael D Olson, Michael L Hinni
{"title":"What is the Optimal Anticoagulation in HGNS Surgery in Patients with High-risk Cardiac Comorbidities?","authors":"Michael D Olson, Michael L Hinni","doi":"10.1002/lary.31798","DOIUrl":"https://doi.org/10.1002/lary.31798","url":null,"abstract":"","PeriodicalId":49921,"journal":{"name":"Laryngoscope","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2024-09-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142331169","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 of Posterior Pharyngeal Wall Injection for Velopharyngeal Dysfunction in Adults. 咽后壁注射治疗成人伶咽功能障碍的疗效。
IF 2.2 3区 医学
Laryngoscope Pub Date : 2024-09-28 DOI: 10.1002/lary.31788
Nikhil Arora, VyVy N Young, Sarah L Schneider, Yue Ma, Clark A Rosen, Tyler W Crosby
{"title":"Efficacy of Posterior Pharyngeal Wall Injection for Velopharyngeal Dysfunction in Adults.","authors":"Nikhil Arora, VyVy N Young, Sarah L Schneider, Yue Ma, Clark A Rosen, Tyler W Crosby","doi":"10.1002/lary.31788","DOIUrl":"https://doi.org/10.1002/lary.31788","url":null,"abstract":"<p><strong>Objective(s): </strong>Posterior pharyngeal wall (PPW) injection is often employed to treat velopharyngeal deficiency (VPD). We sought to analyze the impact of PPW injection on severity of dysphagia and dysphonia.</p><p><strong>Methods: </strong>Retrospective chart review was conducted of patients undergoing PPW injection from 2018 to 2023 at a tertiary laryngology center. Effects on Voice Handicap Index-10 (VHI-10), Eating Assessment Tool-10 (EAT-10), soft palate closure on modified barium swallow, and auditory-perceptual measures of hypernasality and audible nasal air emission were analyzed.</p><p><strong>Results: </strong>67 PPW injections were performed in 29 patients (11 female). Mean age was 59.4 ± 17.0 years. Etiologies were head and neck cancer (n = 23) and neurologic conditions (n = 6). 30 PPW injections were performed concurrent with intervention on the upper esophageal sphincter (25 dilations, 3 myotomies, 2 botulinum toxin injections), and 8 with a glottic procedure (6 vocal fold injections, 2 thyroplasties). Change scores were 3.87 (-6.85 to -0.89, p = .012) for VHI-10 and -3.00 (-4.75 to -1.25, p = 0.001) for EAT-10. These were statistically different from 0 for the whole cohort but not in the subset of patients undergoing concurrent voice and/or swallow surgery. Soft palate closure scores tended to be better (but not statistically significant) on MBS after PPW injection. Hypernasality and audible nasal air emission both improved after injection.</p><p><strong>Conclusion: </strong>PPW injection appears to have a therapeutic effect on dysphagia/dysphonia in patients with VPD; however, many patients have multifactorial impairment. Additional study is needed to determine benefit of PPW when performed in conjunction with other procedures in this complex patient population.</p><p><strong>Level of evidence: </strong>Level 4 (Case series) Laryngoscope, 2024.</p>","PeriodicalId":49921,"journal":{"name":"Laryngoscope","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2024-09-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142331257","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
Secondary Contouring for the Butterfly Graft: Improving Form and Preserving Function. 蝶形移植的二次塑形:改善形态,保护功能
IF 2.2 3区 医学
Laryngoscope Pub Date : 2024-09-28 DOI: 10.1002/lary.31804
Rahul Varman, Jonas Miller, J Madison Clark
{"title":"Secondary Contouring for the Butterfly Graft: Improving Form and Preserving Function.","authors":"Rahul Varman, Jonas Miller, J Madison Clark","doi":"10.1002/lary.31804","DOIUrl":"https://doi.org/10.1002/lary.31804","url":null,"abstract":"<p><strong>Objective: </strong>The butterfly graft (BFG) secondary contouring procedure addresses external nasal irregularities following the primary BFG surgery. We explore demographic factors associated with the desire for secondary contouring and assess patient-reported outcomes following the procedure.</p><p><strong>Methods: </strong>A retrospective analysis of 374 patients undergoing BFG between April 2020 and April 2023 identified 10 individuals electing for secondary contouring. Demographics, Nasal Obstruction Symptoms Evaluation (NOSE) scores, Rhinosinusitis Disability Index (RSDI), and decision regret scale (DRS) were collected and reported.</p><p><strong>Results: </strong>Secondary contouring rate was 2.7% of total cases. The majority of patients desiring BFG secondary contouring were white females (90%). NOSE scores significantly improved post-primary surgery (mean change: 51.7, SD: 14.01, p-value: <0.05). Although overall NOSE scores remained improved after secondary contouring (mean change: 47.2, SD: 18.84, p-value: <0.05) compared with their preoperative NOSE scores, one patient (10%) reported worse score after secondary contouring. Four patients (40%) reported worsening after secondary contouring compared with after initial BFG surgery. DRS indicated minimal regret from patients.</p><p><strong>Conclusion: </strong>BFG secondary contouring is a valuable option for patients with external nasal complaints, providing improvements in nasal appearance and durable improvement in breathing outcomes. We emphasize the importance of patient counseling and appropriate patient selection. Our results suggest that patients should expect a slight worsening of NOSE scores following secondary contouring, but that significant worsening is a low risk.</p><p><strong>Level of evidence: </strong>Level 4: Case series Laryngoscope, 2024.</p>","PeriodicalId":49921,"journal":{"name":"Laryngoscope","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2024-09-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142331264","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
Relationship of Modified Sleep Apnea Severity Index and HGNS Efficacy and Adherence in OSA Patients. 改良睡眠呼吸暂停严重程度指数与 HGNS 在 OSA 患者中的疗效和依从性之间的关系。
IF 2.2 3区 医学
Laryngoscope Pub Date : 2024-09-26 DOI: 10.1002/lary.31793
Praneet C Kaki, Nicole Molin, Jennifer A Goldfarb, Thomas M Kaffenberger, Erin Creighton, Maurits Boon, Colin Huntley
{"title":"Relationship of Modified Sleep Apnea Severity Index and HGNS Efficacy and Adherence in OSA Patients.","authors":"Praneet C Kaki, Nicole Molin, Jennifer A Goldfarb, Thomas M Kaffenberger, Erin Creighton, Maurits Boon, Colin Huntley","doi":"10.1002/lary.31793","DOIUrl":"https://doi.org/10.1002/lary.31793","url":null,"abstract":"<p><strong>Objectives: </strong>Hypoglossal nerve stimulation (HGNS) is a treatment option for patients with CPAP-intolerant (CPAPi) obstructive sleep apnea (OSA). The modified sleep apnea severity index (mSASI) combines patient anatomy, weight, sleep study metrics, and symptoms into a composite index ranging from 1 (least severe) to 3 (most severe). Prior studies have associated mSASI with quality of life, CPAP adherence, and hypertension, but its utility in CPAPi patients is unknown. We evaluate the relationship between mSASI, HGNS efficacy, and adherence.</p><p><strong>Methods: </strong>Retrospective cohort study of consecutive CPAPi OSA patients who underwent HGNS from 2014 to 2023. Patients were included if data were available to calculate preoperative mSASI and postoperative HGNS adherence/efficacy. Kruskal-Wallis rank-sum, Fisher's exact, and Chi-squared tests were performed.</p><p><strong>Results: </strong>264 patients were included (mean age = 61.3 years, 95% White, 66% Male). Preoperatively, 168 (64%) patients had mSASI of 1, 81 (31%) mSASI = 2, and 15 (5.7%) mSASI = 3. At 3 months post-op, patients with baseline mSASI of 1, 2, and 3 showed 6.72, 6.39, and 5.88 hours/night of device usage (p = 0.4). This pattern persisted, although showing no significance, at 6 months, 12 months, and most recent follow-up. There were similar reductions in Epworth Sleepiness Scale (ESS) across cohorts, with the mSASI3 group having the highest ESS postoperatively (p < 0.01). Sher15 response was similar between cohorts (mSASI1 = 52%, mSASI2 = 40%, mSASI3 = 25%, p = 0.2).</p><p><strong>Conclusion: </strong>Preoperative mSASI was not significantly correlated with HGNS adherence. Higher baseline mSASI was associated with greater postoperative daytime sleepiness. Further study is needed to evaluate mSASI as a tool within this population.</p><p><strong>Level of evidence: </strong>3 Laryngoscope, 2024.</p>","PeriodicalId":49921,"journal":{"name":"Laryngoscope","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2024-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142331263","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
Central Hearing Loss in a Pediatric Patient. 一名儿童患者的中枢性听力损失
IF 2.2 3区 医学
Laryngoscope Pub Date : 2024-09-26 DOI: 10.1002/lary.31742
Peter K Moon, Lauren Bloom, Melissa Tribble, Angela H Ling, Iram N Ahmad, Kristen Yeom, Alan G Cheng
{"title":"Central Hearing Loss in a Pediatric Patient.","authors":"Peter K Moon, Lauren Bloom, Melissa Tribble, Angela H Ling, Iram N Ahmad, Kristen Yeom, Alan G Cheng","doi":"10.1002/lary.31742","DOIUrl":"https://doi.org/10.1002/lary.31742","url":null,"abstract":"<p><p>Sensorineural hearing loss is typically caused by dysfunction of the inner ear or auditory nerve. In pediatric patients diagnosed with sensorineural hearing loss, work-up often includes genetic testing and imaging studies of the auditory pathway. Here, we report a case of a pediatric patient with a history of sensorineural hearing loss following cisplatin and radiation therapy for brainstem medulloblastoma, developing symptoms and signs of central hearing loss based on audiometric and MRI/diffusion tensor imaging studies. Though rare, central hearing loss should be considered among the causes of sensorineural hearing loss in children. Laryngoscope, 2024.</p>","PeriodicalId":49921,"journal":{"name":"Laryngoscope","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2024-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142331255","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
Treatment Outcomes in Patients with Carcinoma In Situ of the Larynx. 喉原位癌患者的治疗效果。
IF 2.2 3区 医学
Laryngoscope Pub Date : 2024-09-26 DOI: 10.1002/lary.31786
Ahmed I Ghanem, Marissa Gilbert, Chun-Hui Lin, Christian E Keller, Glendon M Gardner, Ross Mayerhoff, Farzan Siddiqui
{"title":"Treatment Outcomes in Patients with Carcinoma In Situ of the Larynx.","authors":"Ahmed I Ghanem, Marissa Gilbert, Chun-Hui Lin, Christian E Keller, Glendon M Gardner, Ross Mayerhoff, Farzan Siddiqui","doi":"10.1002/lary.31786","DOIUrl":"https://doi.org/10.1002/lary.31786","url":null,"abstract":"<p><strong>Objective: </strong>To compare survival endpoints in patients with laryngeal carcinoma in situ (L-CIS) who received definitive radiotherapy (RT) versus other modalities as first-line treatment and after disease recurrence.</p><p><strong>Methods: </strong>This is a retrospective study of patients with L-CIS treated between June 2001 and December 2021. Survival outcomes (recurrence-free (RFS), invasion-free (IFS), laryngectomy-free (LFS), and overall survival (OS)) were compared between patients who had first-line RT versus non-RT modalities and for patients with recurrent disease who underwent second-line RT.</p><p><strong>Results: </strong>A total of 85 patients with L-CIS were included (73 men [85.9%] and 12 [14.1%] women, median age of 65 [IQR: 55-74] years). Of these, 42 had first-line RT (49.4%) and 43 (50.6%) had non-RT treatment. After median follow-up of 4.8 (IQR: 2.8-9) years, patients in the first-line RT group had improved 2-year (94.2% [95% confidence interval (CI): 86.7-100] versus 41.7% [CI: 29.3-59.5]) and 5-year (90.6% [CI: 80.9-100] versus 27.5% [CI: 16.4-48.2]) RFS relative to non-RT recipients (p < 0.001). OS and IFS were similar between groups. However, patients in the RT group had worse 2-year (94% [CI: 87-100] versus 98% [CI: 93-100]) and 5-year (82% [CI: 68-99] versus 98% [CI: 93-100]; p = 0.013) LFS. All 35 patients with recurrent L-CIS were successfully cured with second-line treatments (12 received RT [34.3%]), and no differences in any survival endpoints were seen in these patients based on first-line and second-line treatments.</p><p><strong>Conclusion: </strong>Although first-line RT for L-CIS led to improved recurrence-free survival compared with other modalities, second-line RT may be a particularly valuable option for recurrent CIS.</p><p><strong>Level of evidence: </strong>3 Laryngoscope, 2024.</p>","PeriodicalId":49921,"journal":{"name":"Laryngoscope","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2024-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142331168","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
Sensorineural Hearing Loss in Patients With the m.1555A>G Mutation in the MTRNR1 Gene. MTRNR1 基因 m.1555A>G 突变患者的感音神经性听力损失。
IF 2.2 3区 医学
Laryngoscope Pub Date : 2024-09-26 DOI: 10.1002/lary.31796
Jaime Gallo-Terán, Cristina Salomón-Felechosa, Rocío González-Aguado, Esther Onecha, Ana Fontalba, Ignacio Del Castillo, Carmelo Morales-Angulo
{"title":"Sensorineural Hearing Loss in Patients With the m.1555A>G Mutation in the MTRNR1 Gene.","authors":"Jaime Gallo-Terán, Cristina Salomón-Felechosa, Rocío González-Aguado, Esther Onecha, Ana Fontalba, Ignacio Del Castillo, Carmelo Morales-Angulo","doi":"10.1002/lary.31796","DOIUrl":"https://doi.org/10.1002/lary.31796","url":null,"abstract":"<p><strong>Objective: </strong>Mutations in the MTRNR1 gene of mitochondrial DNA are associated with non-syndromic hearing loss and increased susceptibility to aminoglycoside ototoxicity. The aim of our study was to determine the clinical characteristics of sensorineural hearing loss caused by the m.1555A>G mutation in MTRNR1.</p><p><strong>Methods: </strong>An observational retrospective study of the m.1555A>G mutation was conducted in patients with suspected hereditary bilateral sensorineural hearing loss in the Department of Otolaryngology of the Marqués de Valdecilla University Hospital (Cantabria, Spain) and in 100 controls with normal hearing.</p><p><strong>Results: </strong>The m.1555A>G mutation was found in 82 individuals from 20 different families and in none of the controls. Variable degrees of hearing loss were observed, ranging from normal hearing to profound deafness. Patients with a history of streptomycin administration exhibited significantly more pronounced hearing loss. The onset of hearing loss occurred from childhood to adulthood, with progression or stability over the years. No associated vestibular alterations or other clinical manifestations outside the ear were found. Two cochlear implant recipients showed significant improvement in speech comprehension.</p><p><strong>Conclusions: </strong>Patients with the m.1555A>G mutation in the MTRNR1 gene often develop bilateral, symmetric sensorineural hearing loss, predominantly affecting high frequencies, worsened by streptomycin administration. This mutation does not affect the vestibular function. The variability in the severity of hearing loss, the heterogeneity of phenotypic expression, and the presence of carrier individuals with normal hearing may indicate the existence of modifying factors, both environmental and genetic. Cochlear implantees showed a good response in terms of speech intelligibility. Genetic testing for this mutation is recommended in patients with a family history of hearing loss to prevent the use of aminoglycosides if the mutation is found.</p><p><strong>Level of evidence: </strong>4 Laryngoscope, 2024.</p>","PeriodicalId":49921,"journal":{"name":"Laryngoscope","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2024-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142331265","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
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