Acta Oto-LaryngologicaPub Date : 2024-11-01Epub Date: 2024-11-04DOI: 10.1080/00016489.2024.2408741
Kasper Gydesen, Rasmus Bülow, Kasper Aanaes, Anne Fog Lomholt, Tina Agander, Christian von Buchwald, Sannia Sjöstedt
{"title":"Impact of fast-track on recurrence and malignant transformation of patients with inverted papilloma.","authors":"Kasper Gydesen, Rasmus Bülow, Kasper Aanaes, Anne Fog Lomholt, Tina Agander, Christian von Buchwald, Sannia Sjöstedt","doi":"10.1080/00016489.2024.2408741","DOIUrl":"10.1080/00016489.2024.2408741","url":null,"abstract":"<p><strong>Background: </strong>Inverted papilloma is a benign epithelial tumour located in the sinonasal tract with a high recurrence rate and a potential of malignant transformation. From 2017, patients with IP were included in our fast-track regime similar to head and neck cancer patients, including follow-up at 2, 6, 12, 18 and 24 months after surgery, then yearly for a total of 5 years.</p><p><strong>Aims/objectives: </strong>This study aims to compare the recurrence rate and malignant transformation of patients with IP treated at a university centre following the implementation of a fast-track regime including a close follow-up.</p><p><strong>Methods: </strong>A retrospective study was performed on all patients with IP diagnosed between 2018 and 2022.</p><p><strong>Results: </strong>The study included 125 patients, all surgically treated for IP. Eight patients (6%) also presented with SCC at the time of diagnosis. The recurrence rate of benign IP was 17%. Most tumours originated in the maxillary sinus (48/117, 41%). No cases of metachronous cancer were seen during the follow-up.</p><p><strong>Conclusions and significance: </strong>The majority of recurrences (90%) occurred within the first 2 years after treatment. No cases of malignant transformation were seen in the follow-up period. The rigorous follow-up program potentially contributed to the detection of recurrence before malignant transformation.</p>","PeriodicalId":6880,"journal":{"name":"Acta Oto-Laryngologica","volume":" ","pages":"631-634"},"PeriodicalIF":1.2,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142574856","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Acta Oto-LaryngologicaPub Date : 2024-11-01Epub Date: 2024-11-15DOI: 10.1080/00016489.2024.2424962
Pedro Marques Gomes, Diogo Cunha Cabral, Joana Barreto, André Alves Carção, Delfim Duarte, José Ferreira Penêda
{"title":"Chronic rhinosinusitis with nasal polyps: predictors of recurrence 5 years after surgery.","authors":"Pedro Marques Gomes, Diogo Cunha Cabral, Joana Barreto, André Alves Carção, Delfim Duarte, José Ferreira Penêda","doi":"10.1080/00016489.2024.2424962","DOIUrl":"10.1080/00016489.2024.2424962","url":null,"abstract":"<p><strong>Backgrounds: </strong>Chronic rhinosinusitis with nasal polyps (CRSwNP) is a medical condition characterized by persistent inflammation of the nasal mucosa and sinuses, accompanied by the presence of nasal polyps. When medical treatments prove ineffective, endoscopic sinus surgery (ESS) is recommended, yielding variable outcomes and recurrence rates ranging from 5% to 60%.</p><p><strong>Aims/objectives: </strong>The primary objectives of this study were to evaluate the outcomes of ESS and to identify independent predictors of recurrence and revision surgery.</p><p><strong>Material and methods: </strong>Retrospective cross-sectional study, focusing on patients diagnosed with CRSwNP who underwent ESS with a minimum follow-up period of 60 months. Various variables were collected. Multivariate and regression analyses were employed to assess the predictors associated with both recurrence and revision surgery.</p><p><strong>Results: </strong>The study analyzed 130 patients. The 5-year recurrence rate was 35.4%, and 17.7% of patients required revision surgery. These variables included asthma (<i>p</i> < 0.001), frontal sinus involvement (<i>p</i> < 0.001), Lund-Mackay score (<i>p</i> < 0.001), Endoscopic Nasal Polyps Score (<i>p</i> < 0.001), and eosinophilia in peripheral blood (<i>p</i> < 0.001). All the variables mentioned above were identified as predictors of recurrence and revision surgery.</p><p><strong>Conclusions and significance: </strong>Asthma, frontal sinus involvement, increased eosinophilia in peripheral blood, and a higher score on the LM system and NPS are poor prognostic factors in CRSwNP.</p>","PeriodicalId":6880,"journal":{"name":"Acta Oto-Laryngologica","volume":" ","pages":"635-640"},"PeriodicalIF":1.2,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142638305","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Acta Oto-LaryngologicaPub Date : 2024-11-01Epub Date: 2024-11-25DOI: 10.1080/00016489.2024.2424947
Giannicola Iannella, Annalisa Pace, Antonio Greco, Armando De Virgilio, Lodovica Gatti, Antonino Maniaci, Jerome R Lechien, Rémi Hervochon, Ali Faramarzi, Quentin Mat, Maryana Cherkes, Matthias Koiner-Graupp, Paolo Boscolo-Rizzo, Luigi Angelo Vaira, Giuseppe Magliulo
{"title":"Endoscopic versus microscopic approach in the treatment of atelectatic otitis media.","authors":"Giannicola Iannella, Annalisa Pace, Antonio Greco, Armando De Virgilio, Lodovica Gatti, Antonino Maniaci, Jerome R Lechien, Rémi Hervochon, Ali Faramarzi, Quentin Mat, Maryana Cherkes, Matthias Koiner-Graupp, Paolo Boscolo-Rizzo, Luigi Angelo Vaira, Giuseppe Magliulo","doi":"10.1080/00016489.2024.2424947","DOIUrl":"10.1080/00016489.2024.2424947","url":null,"abstract":"<p><strong>Background: </strong>endoscopic ear surgery in patients Chronic Otitis Media(COM) media with eardrum atelectasis.</p><p><strong>Objective: </strong>to compare the postoperative outcomes and audiological results of the endoscopic approach versus the microscopic approach for treatment of COM media with eardrum atelectasis, using a randomized prospective model.</p><p><strong>Methods: </strong>Sixty patients were consecutively enrolled in the study and randomized into two groups: Group A 32 patients underwent canal wall up tympanoplasty (CWA); Group B 28 patients underwent tympanoplasty with an exclusive trans-meatal endoscopic approach. Audiological results and preoperative, intraoperative and postoperative outcomes were evaluated.</p><p><strong>Results: </strong>No statistical difference emerged between distribution of middle ear atelectasis patients grade 3 and 4 between the two surgical groups (<i>p</i> > 0.05). The group B appeared to have shorter surgical times than group A (69.8 min vs. 88.9 min). The graft success rate was estimated in 90.6% and 92.8% in group A and B respectively, without statistical differences between groups (<i>p</i> = 1). The Overall success rate was therefore calculated in 87.5% and 92.8% for both groups.</p><p><strong>Conclusion and significance: </strong>Endoscopic ear surgery could be a suitable approach for treating COM media with eardrum atelectasis with similar results compared with the Microscopic surgery.</p>","PeriodicalId":6880,"journal":{"name":"Acta Oto-Laryngologica","volume":" ","pages":"592-601"},"PeriodicalIF":1.2,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142708726","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Do different types of cochlear implant electrode influence hearing preservation and speech perception?","authors":"Karin Hallin, Ulrika Larsson, Nadine Schart-Morén","doi":"10.1080/00016489.2024.2407395","DOIUrl":"10.1080/00016489.2024.2407395","url":null,"abstract":"<p><strong>Background: </strong>Hearing can be preserved in patients with considerable low-frequency hearing implanted with cochlear implants. However, the most favorable electrode type for hearing preservation and speech perception has been debated.</p><p><strong>Objective: </strong>The aim was to evaluate hearing preservation and speech discrimination one year post-implantation for all types of cochlear implant electrode used for adult patients implanted between 2014 and 2022.</p><p><strong>Methods: </strong>The HEARING group formula was used to calculate the degree of hearing preservation, which was defined as minimal (0-25%), partial (25-75%) or complete (≥ 75%). Speech perception was measured by monosyllabic words.</p><p><strong>Results: </strong>Analysis of hearing preservation for the various electrode types revealed that FLEX 24 preserved hearing statistically significantly better (<i>p</i> < 0.05) than FLEX 28, FLEX soft, and contour advance. Also, FLEX 20 preserved hearing statistically significantly better (<i>p</i> < 0.05) than contour advance. No statistically significant difference was found for the monosyllabic word score for the different electrode types.</p><p><strong>Discussion: </strong>There was a statistically significant difference between the electrode types in terms of hearing preservation but not for speech perception. The result of this study contributes important information about hearing preservation and speech perception that can be used for pre-surgery patient counselling.</p>","PeriodicalId":6880,"journal":{"name":"Acta Oto-Laryngologica","volume":" ","pages":"552-557"},"PeriodicalIF":1.2,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142338919","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Hearing and balance functions in patients with systemic lupus erythematosus.","authors":"Serpil Demir, Anı Parabakan Polat, Cevahir Bulut Turay, Selim Sermed Erbek","doi":"10.1080/00016489.2024.2416934","DOIUrl":"10.1080/00016489.2024.2416934","url":null,"abstract":"<p><strong>Background: </strong>Systemic lu<i>p</i>us erythematosus (SLE) is a chronic, inflammatory, autoimmune disease, characterized by multiple organ involvement, which is seen more often in young females.</p><p><strong>Objectives: </strong>To evaluate the hearing and balance functions in SLE patients.</p><p><strong>Materials and methods: </strong>Twenty-four SLE patients, 24 healthy controls underwent pure tone audiometry (0.125-16 kHz), VNG, vestibular evoked myogenic potential (VEMP), and video head impulse test (vHIT).</p><p><strong>Results: </strong>A statistically significant difference was determined between the control group and the SLE group at 0.125, 0.25, 0.5, 1.0, 6.0, 8.0, 10, 12, 14, and 16 kHz frequencies. Sensorineural hearing loss was observed in 37.5% of the SLE group. The pursuit test was pathological at the rate of 25% in the SLE group. No response was obtained in six SLE patients in the oVEMP test and four SLE patients in the cVEMP test. The mean posterior SCC VOR gain values were 0.64 ± 0.2 in the SLE group. A significant difference was determined between the groups with respect to posterior SCC VOR gains.</p><p><strong>Conclusions and significance: </strong>Our findings show that SLE disease may negatively affect the hearing system and the vestibular system as well. The current study is the first study to comprehensively evaluate SLE patients with VNG, VEMP, and vHIT tests.</p>","PeriodicalId":6880,"journal":{"name":"Acta Oto-Laryngologica","volume":" ","pages":"565-569"},"PeriodicalIF":1.2,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142455391","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"The quantification and mRNA expression levels of cochlear synapses in C57BL/6j mice following repeated exposure to noise.","authors":"Minfei Qian, Zhuowei Yao, Qixuan Wang, Yaqi Zhou, Zhiwu Huang, Jiping Li","doi":"10.1080/00016489.2024.2413385","DOIUrl":"10.1080/00016489.2024.2413385","url":null,"abstract":"<p><strong>Background: </strong>Noise-induced cochlear synaptopathy has recently emerged as a focus in hearing research.</p><p><strong>Purpose: </strong>This study aimed to examine the impact of repeated noise exposure on the quantification and mRNA expression levels of cochlear synapses.</p><p><strong>Methods: </strong>Measurements were conducted at baseline, 1 day, and 14 days post-exposure to 88 or 97 dB SPL noise (2 h/day for 7 days, frequency range 2-20 kHz). Auditory brainstem responses (ABRs), immunofluorescence and quantitative real-time PCR (qRT-PCR) were used to examine the results.</p><p><strong>Results: </strong>1. Exposure to 88 dB SPL caused minimal changes in ABRs, ribbon morphology and medial olivocochlear (MOC) efferent synapses; elevation of synaptophysin(SYP) and α9α10 nAchR mRNA levels were observed. 2. Exposure to 97 dB SPL caused threshold shift and synaptopathy of ribbon and MOC; downregulation of α10nAchR, SYP and ctbp2 mRNA levels were observed.</p><p><strong>Conclusion: </strong>Noise-induced cochlear synaptic degeneration involves both afferent and efferent synaptopathy.</p>","PeriodicalId":6880,"journal":{"name":"Acta Oto-Laryngologica","volume":" ","pages":"558-564"},"PeriodicalIF":1.2,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142455394","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Acta Oto-LaryngologicaPub Date : 2024-10-01Epub Date: 2024-10-22DOI: 10.1080/00016489.2024.2414801
Ao Li, Xuan Yang, Yuqin Xu, Ning Zhao, Xueyao Liu, Haoliang Du, Jifeng Xu, Xia Gao, Ye Yang
{"title":"Clinical value of wideband acoustic immittance in the diagnosis of otitis media with effusion under negative intratympanic pressure in adults.","authors":"Ao Li, Xuan Yang, Yuqin Xu, Ning Zhao, Xueyao Liu, Haoliang Du, Jifeng Xu, Xia Gao, Ye Yang","doi":"10.1080/00016489.2024.2414801","DOIUrl":"10.1080/00016489.2024.2414801","url":null,"abstract":"<p><strong>Background: </strong>Normative clinical values for wideband acoustic immittance (WAI) are not well-established.</p><p><strong>Aims: </strong>This study aims to define the normative contour plot characteristics of WAI and evaluate its diagnostic value in detecting tympanic effusion.</p><p><strong>Materials and methods: </strong>Data were collected from subjects with normal hearing (76 ears) and type C tympanograms on 226-Hz tympanometry (130 ears). Matlab was used to process and analyze the data. The maximum absorbance of WAI was used as the primary indicator, and the receiver operating characteristic (ROC) curve was drawn to determine the optimal cut-off value. WAI contour plots were compared to 226-Hz tympanometry and otoendoscopy, the latter being the gold standard.</p><p><strong>Results: </strong>Mean WAI plots in the normal group showed single peaks (absorbance, >70%) and a nearly symmetrical distribution of the peak area around the 0 daPa pressure line. The ROC curve indicated an AUC value of 0.910, with 78% as the optimal cut-off value of maximum absorbance for detecting effusion. WAI demonstrated better diagnostic performance (sensitivity: 82.26%, specificity: 86.76%, kappa: 0.691) than 226-Hz tympanometry (sensitivity: 61.29%, specificity: 61.76%, kappa: 0.230).</p><p><strong>Conclusions and significance: </strong>Normative WAI values were established, and WAI proved more accurate than 226-Hz tympanometry for identifying tympanic effusion, offering valuable guidance for selecting treatment options.</p>","PeriodicalId":6880,"journal":{"name":"Acta Oto-Laryngologica","volume":" ","pages":"533-541"},"PeriodicalIF":1.2,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142455389","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Dupilumab-related late adverse events in patients with chronic rhinosinusitis with nasal polyps.","authors":"Toshiyuki Matsuyama, Mizuki Sakurai, Kazuaki Chikamatsu","doi":"10.1080/00016489.2024.2407402","DOIUrl":"10.1080/00016489.2024.2407402","url":null,"abstract":"<p><strong>Background: </strong>Anti-IL-4 receptor α antibody (dupilumab) has demonstrated favorable sinonasal outcomes for chronic rhinosinusitis with nasal polyps (CRSwNP), which is mainly caused by type 2 inflammation. Although increased blood eosinophil levels and injection site symptoms are frequently observed as acute adverse events (AEs) of dupilumab, limited knowledge is available regarding the late AEs of dupilumab for CRSwNP.</p><p><strong>Objectives: </strong>We investigated the late AEs following the initiation of dupilumab treatment for CRSwNP.</p><p><strong>Material and methods: </strong>Fifty-one patients with CRSwNP treated with dupilumab for > 3 months were enrolled, and their clinical data were collected from their medical records.</p><p><strong>Results: </strong>Six (11.8%) patients experienced late AEs. One case of eczema with pruritus, one case of psoriasis-like dermatitis, two cases of severe rash, one case of malignant lymphoma, and one case of alopecia areata were observed. Skin disorders were the most common late AEs in this study. It is a Th1-inflammatory disease, and its mechanism is thought to be due to the immune imbalance caused by dupilumab. We could not confirm whether malignant lymphoma in our case was caused by dupilumab use.</p><p><strong>Conclusions and significance: </strong>Skin disorders are often late AEs associated with dupilumab; therefore, careful monitoring after dupilumab initiation should be considered.</p>","PeriodicalId":6880,"journal":{"name":"Acta Oto-Laryngologica","volume":" ","pages":"570-573"},"PeriodicalIF":1.2,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142370695","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Acta Oto-LaryngologicaPub Date : 2024-10-01Epub Date: 2024-10-21DOI: 10.1080/00016489.2024.2415493
Mingbao Yang, Bei Zhang, Yafeng Guan
{"title":"Hearing outcomes in subtotal facial nerve decompression with preserving ossicular chain intact.","authors":"Mingbao Yang, Bei Zhang, Yafeng Guan","doi":"10.1080/00016489.2024.2415493","DOIUrl":"10.1080/00016489.2024.2415493","url":null,"abstract":"<p><strong>Background: </strong>Facial paralysis patients with normal hearing often require ossicular chain dislocation throughout the entire process of facial nerve decompression surgery, and their hearing tends to be slightly impaired after surgery. There is not detailed explanation of hearing changes after facial nerve decompression with preserving intact ossicular chain.</p><p><strong>Purpose: </strong>This study aimed to determine the efficacy and hearing outcomes of facial nerve decompression with preserving ossicular chain intact transmastoid supralabyrinthine recess pathway in Bell's palsy.</p><p><strong>Methods: </strong>A retrospective study comparing the pre- and post-operative facial nerve HB functional grades and hearing results of 12 patients with Bell's palsy who underwent facial nerve decompression.</p><p><strong>Results: </strong>Preoperative and postoperative mean House-Brackmann (HB) scores respectively were 4.41 ± 0.67 and 1.58 ± 0.79 grades; The recovery rate to HB grade I, II was 100% or to grade III or lower was 83.3% (10/12). The pre- and post-operative mean PTAs (0.125, 0.25, 0.5, 1, 2, 4, 8KHz) were 19.1 ± 1.9 dB and 36.8 ± 4.1 dB; The pre- and postoperative low frequencies (0.125, 0.25KHz) were 18.5 ± 2.3 dB and 26 ± 3.8 dB; The pre- and postoperative speech frequencies (0.5, 1, 2KHz) mean PTAs were 18.5 ± 1.9 dB and 21.5 ± 2.9 dB; Comparison of pre- and post-operative hearing outcomes at all frequencies, low frequencies, and speech frequencies showed no statistically significant differences (<b><i>p</i> </b><<b> </b>0.05); The pre- and postoperative high frequencies (4, 8KHz) were 20.6 ± 4.7 dB and 70.4 ± 11.6 dB and the hearing outcomes were statistically significant (<b><i>p</i></b> >0.05).</p><p><strong>Conclusion: </strong>Subtotal facial nerve decompression with preserving ossicular chain intact transmastoid supralabyrinthine recess pathway does not cause the verbal frequency hearing loss of Bell's palsy, but it has high frequency sensorineural hearing loss, which tend to be unavoidable and independent of the skill of the surgical operator.</p>","PeriodicalId":6880,"journal":{"name":"Acta Oto-Laryngologica","volume":" ","pages":"574-579"},"PeriodicalIF":1.2,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142455392","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Acta Oto-LaryngologicaPub Date : 2024-10-01Epub Date: 2024-10-22DOI: 10.1080/00016489.2024.2416082
Shin-Ichi Usami, Shin-Ya Nishio, Javier Gavilán, Paul Van de Heyning, Griet Mertens, Eva Karltorp, Henryk Skarżyński, Abdulrahman Hagr, Manikoth Manoj, Hinrich Staecker, Mario E Zernotti, Gunesh P Rajan, Joachim Müller, Florian Simon, Ilona Anderson
{"title":"HEARRING group genetic marker study: genetic background of CI patients.","authors":"Shin-Ichi Usami, Shin-Ya Nishio, Javier Gavilán, Paul Van de Heyning, Griet Mertens, Eva Karltorp, Henryk Skarżyński, Abdulrahman Hagr, Manikoth Manoj, Hinrich Staecker, Mario E Zernotti, Gunesh P Rajan, Joachim Müller, Florian Simon, Ilona Anderson","doi":"10.1080/00016489.2024.2416082","DOIUrl":"10.1080/00016489.2024.2416082","url":null,"abstract":"<p><strong>Background: </strong>While cochlear implantation (CI) and electric acoustic stimulation (EAS) have a positive outcome in most cases, their effectiveness varies depending on the etiology of the hearing loss. Among the various etiologies, genetic factors are the leading cause of hearing loss and may impact CI and EAS outcomes.</p><p><strong>Aims/objectives: </strong>To reveal the genetic background of the hearing loss in CI/EAS patients in each ethnic population, we undertook a multi-center study involving the genetic testing of hearing loss in CI/EAS patients from 10 centers.</p><p><strong>Material and methods: </strong>Saliva samples and clinical information for the patients and their family members were obtained and next-generation sequencing analysis using a panel carrying 63 deafness genes was then performed.</p><p><strong>Results: </strong>Genetic testing successfully identified the causative gene variants in 54.5% (48/88) of patients with pre-lingual onset hearing loss (onset under 6 years) and in 12% (12/95) of those with late-onset hearing loss (onset at 6 years or more).</p><p><strong>Conclusions and significance: </strong>We clearly indicated that genetic factors are the most common cause of hearing loss regardless of ethnic background. Saliva-based genetic testing is a useful tool for multi-center studies seeking to clarify the genetic causes of hearing loss in CI or EAS patients between countries separated by distance.</p>","PeriodicalId":6880,"journal":{"name":"Acta Oto-Laryngologica","volume":" ","pages":"542-551"},"PeriodicalIF":1.2,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142455393","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}