Seher Yılmaz, Caner Yatmaz, Furkan Büyükkal, Alev Cumbul, Işılay Öz, Mustafa Bülent Şerbetçioğlu
Background: This study aims to elucidate the potential protective effects of Pycnogenol® against noise-induced hearing (NIHL) loss in a rat model. Methods: This study employed a randomized controlled design to investigate the potential protective effects of Pycnogenol® against NIHL in a rat model. Twenty-five male Wistar albino rats were randomly assigned to 5 groups (n=5 per group): a control group receiving saline administration, a noise exposure group, a noise+saline receiving group, only Pycnogenol® receiving group, and finally, a Pycnogenol® treatment group receiving daily oral administration of Pycnogenol® at 40 mg/kg/day via gavage for 7 days following noise exposure. All groups were subjected to auditory brainstem response assessments at 4 time points: pre-exposure (baseline), post-exposure day 1, day 7, and day 21. Both noise exposure and the Pycnogenol® treatment groups were exposed to 4 kHz narrowband noise at 120 dB SPL for 4 hours. Following sacrifice, histological and immunohistochemical evaluations were conducted on cochlear tissues. Statistical analyses were performed using SPSS software version 25 to determine significant differences between groups and across time points. Results: Outcome of this research shows that the auditory brainstem response thresholds and cochlear morphology between the experimental and control groups are significantly different from each other, suggesting that Pycnogenol® may have the potential to prevent NIHL loss in rats. Conclusion: Pycnogenol® shows potential in protecting against NIHL. However, further research, particularly at the molecular level, is necessary to better understand its therapeutic mechanisms and its specific impact on auditory metabolic processes.
背景:本研究旨在阐明碧萝芷®对噪声性听力(NIHL)大鼠模型的潜在保护作用。方法:采用随机对照设计,研究碧萝芷®对大鼠NIHL的潜在保护作用。选取雄性Wistar白化大鼠25只,随机分为5组(每组5只):对照组生理盐水组、噪声暴露组、噪声+生理盐水组、仅服用碧萝芷®组、碧萝芷®治疗组,在噪声暴露后每天灌胃给予碧萝芷®40 mg/kg/d,连续7 d。所有组在4个时间点进行听觉脑干反应评估:暴露前(基线)、暴露后第1天、第7天和第21天。噪声暴露组和碧萝芷®处理组均暴露于120 dB SPL的4 kHz窄带噪声中4小时。牺牲后,对耳蜗组织进行组织学和免疫组化评价。采用SPSS软件版本25进行统计分析,以确定组间和跨时间点的显著差异。结果:本研究结果显示,实验组和对照组的听觉脑干反应阈值和耳蜗形态存在显著差异,提示碧萝芷®可能具有预防大鼠NIHL丢失的潜力。结论:碧萝芷®具有一定的抗NIHL作用。然而,进一步的研究,特别是在分子水平上,需要更好地了解其治疗机制及其对听觉代谢过程的具体影响。
{"title":"Effect of Pycnogenol® on Noise-Induced Hearing Loss in Rats.","authors":"Seher Yılmaz, Caner Yatmaz, Furkan Büyükkal, Alev Cumbul, Işılay Öz, Mustafa Bülent Şerbetçioğlu","doi":"10.5152/iao.2025.241623","DOIUrl":"10.5152/iao.2025.241623","url":null,"abstract":"<p><p>Background: This study aims to elucidate the potential protective effects of Pycnogenol® against noise-induced hearing (NIHL) loss in a rat model. Methods: This study employed a randomized controlled design to investigate the potential protective effects of Pycnogenol® against NIHL in a rat model. Twenty-five male Wistar albino rats were randomly assigned to 5 groups (n=5 per group): a control group receiving saline administration, a noise exposure group, a noise+saline receiving group, only Pycnogenol® receiving group, and finally, a Pycnogenol® treatment group receiving daily oral administration of Pycnogenol® at 40 mg/kg/day via gavage for 7 days following noise exposure. All groups were subjected to auditory brainstem response assessments at 4 time points: pre-exposure (baseline), post-exposure day 1, day 7, and day 21. Both noise exposure and the Pycnogenol® treatment groups were exposed to 4 kHz narrowband noise at 120 dB SPL for 4 hours. Following sacrifice, histological and immunohistochemical evaluations were conducted on cochlear tissues. Statistical analyses were performed using SPSS software version 25 to determine significant differences between groups and across time points. Results: Outcome of this research shows that the auditory brainstem response thresholds and cochlear morphology between the experimental and control groups are significantly different from each other, suggesting that Pycnogenol® may have the potential to prevent NIHL loss in rats. Conclusion: Pycnogenol® shows potential in protecting against NIHL. However, further research, particularly at the molecular level, is necessary to better understand its therapeutic mechanisms and its specific impact on auditory metabolic processes.</p>","PeriodicalId":94238,"journal":{"name":"The journal of international advanced otology","volume":"21 1","pages":"1-7"},"PeriodicalIF":0.0,"publicationDate":"2025-01-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11843294/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143401160","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}
Background: Less invasive and cost-effective alternatives are needed to manage tympanic membrane perforation (TMP). Therefore, the effectiveness of concentrated growth factors (CGF) in promoting tympanic membrane regeneration in guinea pig models of eardrum perforation was invetigeted. Methods: Large TMPs were created in 34 guinea pig ears using a CO2 laser and divided into 3 groups: CGF-gelatin sponge (with-CGF group), saline-gelatin sponge (without-CGF group), and untreated group. In the with-CGF group, CGF and gelatin sponges were implanted into the perforations, while the without-CGF group received gelatin sponges impregnated with saline. Eardrums were observed under a light microscope on days 14 and 28, and tympanic membranes were examined histologically with hematoxylin and eosin staining. Results: On day 14, 8 of 14 (57.1%) ears in the with-CGF group achieved perforation closure, while no closures were observed in the withoutCGF or untreated groups. The closure rate was significantly higher in the with-CGF group compared to both without-CGF and untreated groups (P < .001). By day 28, 12 of 14 (85.7%) ears in the with-CGF group and 8 of 14 (57.1%) ears in the without-CGF group had closure. No closures were noted in the untreatedgroup. Although the closure rates between the with-CGF and without-CGF groups were similar (P=.07), the withCGF group showed a significantly higher rate than the untreated group (P < .001). Histological analysis revealed that the regenerated tympanic membrane was thicker in the with-CGF group compared to the without-CGF group. Conclusion: Concentrated growth factor effectively promotes tympanic membrane regeneration and provides a promising, minimally invasive treatment option for TMP.
{"title":"Efficacy of Concentrated Growth Factors in Treating Tympanic Membrane Perforation in Guinea Pigs.","authors":"Takahiro Hanari, Masahiro Okada, Takahiro Nakata, Sawa Asoh, Eriko Nishihara, Masato Teraoka, Naohito Hato","doi":"10.5152/jiao.2025.241732","DOIUrl":"10.5152/jiao.2025.241732","url":null,"abstract":"<p><p>Background: Less invasive and cost-effective alternatives are needed to manage tympanic membrane perforation (TMP). Therefore, the effectiveness of concentrated growth factors (CGF) in promoting tympanic membrane regeneration in guinea pig models of eardrum perforation was invetigeted. Methods: Large TMPs were created in 34 guinea pig ears using a CO2 laser and divided into 3 groups: CGF-gelatin sponge (with-CGF group), saline-gelatin sponge (without-CGF group), and untreated group. In the with-CGF group, CGF and gelatin sponges were implanted into the perforations, while the without-CGF group received gelatin sponges impregnated with saline. Eardrums were observed under a light microscope on days 14 and 28, and tympanic membranes were examined histologically with hematoxylin and eosin staining. Results: On day 14, 8 of 14 (57.1%) ears in the with-CGF group achieved perforation closure, while no closures were observed in the withoutCGF or untreated groups. The closure rate was significantly higher in the with-CGF group compared to both without-CGF and untreated groups (P < .001). By day 28, 12 of 14 (85.7%) ears in the with-CGF group and 8 of 14 (57.1%) ears in the without-CGF group had closure. No closures were noted in the untreatedgroup. Although the closure rates between the with-CGF and without-CGF groups were similar (P=.07), the withCGF group showed a significantly higher rate than the untreated group (P < .001). Histological analysis revealed that the regenerated tympanic membrane was thicker in the with-CGF group compared to the without-CGF group. Conclusion: Concentrated growth factor effectively promotes tympanic membrane regeneration and provides a promising, minimally invasive treatment option for TMP.</p>","PeriodicalId":94238,"journal":{"name":"The journal of international advanced otology","volume":"21 1","pages":"1-7"},"PeriodicalIF":0.0,"publicationDate":"2025-01-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11843268/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143401164","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}
McCune-Albright syndrome is a disorder of fibrous bone dysplasia complicated by skin pigmentation and endocrine abnormalities. Although temporal bone lesions are rare, surgical treatment is required when external auditory canal (EAC) stenosis develops. However, no consensus has been reached regarding surgical approaches. To safely perform surgery for temporal bone malformations, knowing the exact location of the critical organs in the temporal bone in relation to the bony lesion is important. Otherwise, intraoperative orientation may be lost owing to differences from the normal anatomy. Although image-guided surgery systems (IGSSs) would be useful in surgery for temporal bone malformations, few studies have reported on the use of IGSS in temporal bone surgery. In this report, we describe a case of McCune-Albright syndrome with EAC stenosis that was safely treated using IGSS-assisted temporal bone surgery.
{"title":"A Case of McCune-Albright Syndrome with External Auditory Canal Stenosis Treated with Image-Guided Surgery System-Assisted Temporal Bone Surgery.","authors":"Takaomi Kurioka, Tatsuya Takenaka, Shingo Yasutake, Yoshiaki Inuzuka, Motohiro Sato, Kunio Mizutari","doi":"10.5152/iao.2025.241749","DOIUrl":"10.5152/iao.2025.241749","url":null,"abstract":"<p><p>McCune-Albright syndrome is a disorder of fibrous bone dysplasia complicated by skin pigmentation and endocrine abnormalities. Although temporal bone lesions are rare, surgical treatment is required when external auditory canal (EAC) stenosis develops. However, no consensus has been reached regarding surgical approaches. To safely perform surgery for temporal bone malformations, knowing the exact location of the critical organs in the temporal bone in relation to the bony lesion is important. Otherwise, intraoperative orientation may be lost owing to differences from the normal anatomy. Although image-guided surgery systems (IGSSs) would be useful in surgery for temporal bone malformations, few studies have reported on the use of IGSS in temporal bone surgery. In this report, we describe a case of McCune-Albright syndrome with EAC stenosis that was safely treated using IGSS-assisted temporal bone surgery.</p>","PeriodicalId":94238,"journal":{"name":"The journal of international advanced otology","volume":"21 1","pages":"1-5"},"PeriodicalIF":0.0,"publicationDate":"2025-01-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11843264/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143401082","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}
Jungmin Ahn, Seung-Eun Hong, Brian Kim, Byeong-Cheol Lee, Lee Myung-Chul, Choi Ik Joon
Background: The association of hearing loss with obstructive sleep apnea (OSA) has been investigated in several studies, but analyses using large national population-based datasets are lacking. Therefore, we aimed to determine the effect of the severity of OSA on hearing loss using data from the Korea National Health and Nutrition Examination Survey (KNHANES). Methods: We reviewed the KNHANES data from 2019 to 2021, analyzing 7730 subjects aged 40 and older who completed the sleep health survey (STOP-BANG questionnaire, SBQ) and hearing assessment. According to their SBQ scores, subjects were classified into low-, intermediate-, and high-risk OSA groups. Hearing loss was defined as a pure-tone average (PTA) greater than 25 dB at frequencies of 0.5, 1, 2, and 4 kHz in the better ear. In addition, low- and high-frequency hearing loss was defined as PTA >25 dB at 0.5, 1, and 2 kHz and PTA >40 dB at 2, 4, and 8 kHz, respectively. Results: Of a total of 7730 subjects, 4781 (62.4%), 2534 (31.7%), and 415 (5.9%) belonged to the low-, intermediate-, and high-risk groups, respectively. Mean hearing thresholds were significantly higher in the intermediate-, high-, and intermediate/high-risk groups compared to the low-risk group (all P < .001). After adjusting for related variables, logistic regression analyses revealed that hearing loss was not significantly correlated with OSA severity in the male subgroup. However, female subjects with more than an intermediate risk of OSA had a 1.372 times higher risk of hearing loss than those with a low risk of OSA (odds ratio: 1.372, 95% CI: 1.039-1.814). Conclusion: The study found that the risk of hearing loss was significantly related to the severity of OSA in the female subgroup.
{"title":"Association Between Obstructive Sleep Apnea and Hearing Loss Using 2019-2021 Korea National Health and Nutrition Examination Survey Data.","authors":"Jungmin Ahn, Seung-Eun Hong, Brian Kim, Byeong-Cheol Lee, Lee Myung-Chul, Choi Ik Joon","doi":"10.5152/iao.2025.231356","DOIUrl":"10.5152/iao.2025.231356","url":null,"abstract":"<p><p>Background: The association of hearing loss with obstructive sleep apnea (OSA) has been investigated in several studies, but analyses using large national population-based datasets are lacking. Therefore, we aimed to determine the effect of the severity of OSA on hearing loss using data from the Korea National Health and Nutrition Examination Survey (KNHANES). Methods: We reviewed the KNHANES data from 2019 to 2021, analyzing 7730 subjects aged 40 and older who completed the sleep health survey (STOP-BANG questionnaire, SBQ) and hearing assessment. According to their SBQ scores, subjects were classified into low-, intermediate-, and high-risk OSA groups. Hearing loss was defined as a pure-tone average (PTA) greater than 25 dB at frequencies of 0.5, 1, 2, and 4 kHz in the better ear. In addition, low- and high-frequency hearing loss was defined as PTA >25 dB at 0.5, 1, and 2 kHz and PTA >40 dB at 2, 4, and 8 kHz, respectively. Results: Of a total of 7730 subjects, 4781 (62.4%), 2534 (31.7%), and 415 (5.9%) belonged to the low-, intermediate-, and high-risk groups, respectively. Mean hearing thresholds were significantly higher in the intermediate-, high-, and intermediate/high-risk groups compared to the low-risk group (all P < .001). After adjusting for related variables, logistic regression analyses revealed that hearing loss was not significantly correlated with OSA severity in the male subgroup. However, female subjects with more than an intermediate risk of OSA had a 1.372 times higher risk of hearing loss than those with a low risk of OSA (odds ratio: 1.372, 95% CI: 1.039-1.814). Conclusion: The study found that the risk of hearing loss was significantly related to the severity of OSA in the female subgroup.</p>","PeriodicalId":94238,"journal":{"name":"The journal of international advanced otology","volume":"21 1","pages":"1-9"},"PeriodicalIF":0.0,"publicationDate":"2025-01-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11843262/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143401154","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}
Qiang Du, Zengjun Sun, Weijia Kong, Hao Wu, Yun Li, Qi Huang, Chunfu Dai
Background: Cochlear implantation is safe and effective in restoring hearing and speech recognition abilities for individuals with severe to profound sensorineural hearing loss. This prospective multicenter clinical trial was conducted to evaluate the safety and effectiveness of a novel cochlear implant (CI) system, the LISTENT LCI-20PI device, in post-lingually deafened individuals. Methods: The LCI-20PI CI system was implanted in 70 individuals 6-68 (27.7 ± 14.0) years old. The safety and effectiveness of the devices were evaluated during a 1-year follow-up. Results: Electrically evoked compound action potential were successfully measured in 98.6% (69/70) of subjects. Electrode impedance was within normal limits of 0.7-20 kOhm in 99.8% of cases. All subjective T/C levels were successfully measured on the selected 12 electrodes of the LCI-20PI recipients at device activation and 1 month, 3 months, 6 months, and 12 months post-activation. The mean open-set monosyllabic-word recognition score (MRS), disyllabic-word recognition score (DRS), and sentence recognition score (SRS) were 28.9 ± 21.0%, 30.3 ± 25.8%, and 36.3 ± 36.3% at 6 months post-activation, and 57.1 ± 21.1%, 69.1 ± 24.4%, and 89.7 ± 21.5% at 12 months post-activation, respectively. Sex, side of the ear implanted, residual hearing, duration of deafness, etiology of deafness, and surgeon did not influence postoperative speech recognition performance. Conclusion: The novel LCI-20PI CI device is safe and effective in post-lingually deafened recipients.
{"title":"Evaluation of Safety and Effectiveness of the LISTENT LCI-20PI Cochlear Implant in Post-Lingually Deafened Individuals.","authors":"Qiang Du, Zengjun Sun, Weijia Kong, Hao Wu, Yun Li, Qi Huang, Chunfu Dai","doi":"10.5152/iao.2025.241627","DOIUrl":"10.5152/iao.2025.241627","url":null,"abstract":"<p><p>Background: Cochlear implantation is safe and effective in restoring hearing and speech recognition abilities for individuals with severe to profound sensorineural hearing loss. This prospective multicenter clinical trial was conducted to evaluate the safety and effectiveness of a novel cochlear implant (CI) system, the LISTENT LCI-20PI device, in post-lingually deafened individuals. Methods: The LCI-20PI CI system was implanted in 70 individuals 6-68 (27.7 ± 14.0) years old. The safety and effectiveness of the devices were evaluated during a 1-year follow-up. Results: Electrically evoked compound action potential were successfully measured in 98.6% (69/70) of subjects. Electrode impedance was within normal limits of 0.7-20 kOhm in 99.8% of cases. All subjective T/C levels were successfully measured on the selected 12 electrodes of the LCI-20PI recipients at device activation and 1 month, 3 months, 6 months, and 12 months post-activation. The mean open-set monosyllabic-word recognition score (MRS), disyllabic-word recognition score (DRS), and sentence recognition score (SRS) were 28.9 ± 21.0%, 30.3 ± 25.8%, and 36.3 ± 36.3% at 6 months post-activation, and 57.1 ± 21.1%, 69.1 ± 24.4%, and 89.7 ± 21.5% at 12 months post-activation, respectively. Sex, side of the ear implanted, residual hearing, duration of deafness, etiology of deafness, and surgeon did not influence postoperative speech recognition performance. Conclusion: The novel LCI-20PI CI device is safe and effective in post-lingually deafened recipients.</p>","PeriodicalId":94238,"journal":{"name":"The journal of international advanced otology","volume":"21 1","pages":"1-8"},"PeriodicalIF":0.0,"publicationDate":"2025-01-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11843266/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143401167","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}
Andrea Migliorelli, Andrea Ciorba, Marianna Manuelli, Virginia Corazzi, Francesco Stomeo, Chiara Bianchini, Stefano Pelucchi, Daniele Monzani, Elisabetta Genovese, Silvia Palma
Hearing loss (HL) is one of the most frequent disorders in Turner syndrome (TS); HL can be present with a wide spectrum of manifestations and also evolve with age. The aim of this paper is to perform a review of the literature on the prevalence of HL in TS patients also analyzing the possible genetic alterations underlying the auditory features. A review of the literature was performed using PubMed/MEDLINE, EMBASE, and Cochrane Library databases, according to the preferred reporting items for systematic reviews and meta-analyses criteria for scoping reviews (from 2000 to December 2023). A total of 17 articles and 2129 patients with TS have been included; the majority of studies focused on young women/girls, with a mean age range from 2 to 43.6 years. External and middle ear problems, inducing conductive and mixed HL, have been reported to be more frequent in childhood, while sensorineural HL has been described since adolescence. Monosomy 45,X and loss of the X chromosome short arm (p) are the alterations most frequently associated with HL. To date, the pathophysiological mechanisms related to HL in TS are still not fully understood; further studies are necessary to clarify these features and to offer therapies or prevention strategies to avoid the progression of HL in TS subjects.
{"title":"Hearing Loss and Turner Syndrome: A Scoping Review.","authors":"Andrea Migliorelli, Andrea Ciorba, Marianna Manuelli, Virginia Corazzi, Francesco Stomeo, Chiara Bianchini, Stefano Pelucchi, Daniele Monzani, Elisabetta Genovese, Silvia Palma","doi":"10.5152/iao.2025.241723","DOIUrl":"10.5152/iao.2025.241723","url":null,"abstract":"<p><p>Hearing loss (HL) is one of the most frequent disorders in Turner syndrome (TS); HL can be present with a wide spectrum of manifestations and also evolve with age. The aim of this paper is to perform a review of the literature on the prevalence of HL in TS patients also analyzing the possible genetic alterations underlying the auditory features. A review of the literature was performed using PubMed/MEDLINE, EMBASE, and Cochrane Library databases, according to the preferred reporting items for systematic reviews and meta-analyses criteria for scoping reviews (from 2000 to December 2023). A total of 17 articles and 2129 patients with TS have been included; the majority of studies focused on young women/girls, with a mean age range from 2 to 43.6 years. External and middle ear problems, inducing conductive and mixed HL, have been reported to be more frequent in childhood, while sensorineural HL has been described since adolescence. Monosomy 45,X and loss of the X chromosome short arm (p) are the alterations most frequently associated with HL. To date, the pathophysiological mechanisms related to HL in TS are still not fully understood; further studies are necessary to clarify these features and to offer therapies or prevention strategies to avoid the progression of HL in TS subjects.</p>","PeriodicalId":94238,"journal":{"name":"The journal of international advanced otology","volume":"21 1","pages":"1-6"},"PeriodicalIF":0.0,"publicationDate":"2025-01-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11843325/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143401170","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}
Mutations in the TWNK gene were described in patients with Perrault syndrome—an autosomal-recessive disease that includes hearing loss, central auditory and speech disorders, cerebellar ataxia, motor and sensory neuropathy, and ovarian dysfunction. Only around 100 cases of Perrault syndrome have been described to date. Genetically, it caused by biallelic pathologic variants in 1 of 6 genes. A literature review and a case study of Perrault syndrome are given in the article. Two mutations in the TWNK gene were detected in a 13-year-old girl with the phenotype of auditory neuropathy spectrum disorder (ANSD). The nucleotide variant c.1523A>G (p.(Tyr508Cys), NM_021830.5) was previously described; another variant c.1199G>T (p.(Arg400Leu) NM_021830.5) is a new one with an unknown population frequency. The main value of this case is the combination of mutations in the TWNK gene with the phenotype of ANSD, as well as the manifestation of the disease with hearing impairment but without neurological symptoms, unlike what was described in the literature. Specifically, in this case, progression of hearing disorders, ineffective amplification, and limited CI effect were noted. Genetic testing results suggested endocrine system testing, which revealed ovarian dysfunction at a preclinical stage; cerebellar ataxia was also diagnosed. The patient requires further monitoring by a multidisciplinary team.
{"title":"A Case Report of Auditory Neuropathy Due to TWNK Gene Mutations.","authors":"Gaziz Sharifovich Tufatulin, Ekaterina Sergeevna Garbaruk, Maria Rafaelievna Lalayants, Tatiana Gennadievna Markova, Elizaveta Konstantinovna Mefodovskaya, Inna Vasilievna Koroleva, Oxana Petrovna Ryzhkova, Maria Dmitrievna Orlova, Olga Leonidovna Shatokhina, Serafima Borisovna Sugarova, Sergey Vladimirovich Levin","doi":"10.5152/iao.2025.241648","DOIUrl":"10.5152/iao.2025.241648","url":null,"abstract":"<p><p>Mutations in the TWNK gene were described in patients with Perrault syndrome—an autosomal-recessive disease that includes hearing loss, central auditory and speech disorders, cerebellar ataxia, motor and sensory neuropathy, and ovarian dysfunction. Only around 100 cases of Perrault\u0000syndrome have been described to date. Genetically, it caused by biallelic pathologic variants in 1 of 6 genes. A literature review and a case study\u0000of Perrault syndrome are given in the article. Two mutations in the TWNK gene were detected in a 13-year-old girl with the phenotype of auditory\u0000neuropathy spectrum disorder (ANSD). The nucleotide variant c.1523A>G (p.(Tyr508Cys), NM_021830.5) was previously described; another variant c.1199G>T (p.(Arg400Leu) NM_021830.5) is a new one with an unknown population frequency. The main value of this case is the combination\u0000of mutations in the TWNK gene with the phenotype of ANSD, as well as the manifestation of the disease with hearing impairment but without\u0000neurological symptoms, unlike what was described in the literature. Specifically, in this case, progression of hearing disorders, ineffective amplification, and limited CI effect were noted. Genetic testing results suggested endocrine system testing, which revealed ovarian dysfunction at a\u0000preclinical stage; cerebellar ataxia was also diagnosed. The patient requires further monitoring by a multidisciplinary team.</p>","PeriodicalId":94238,"journal":{"name":"The journal of international advanced otology","volume":"21 1","pages":"1-6"},"PeriodicalIF":0.0,"publicationDate":"2025-01-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11843263/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143401094","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}
Background: The aim of the study is to evaluate the incidence of recurrence of acquired cholesteatoma and functional outcomes in patients who underwent CWD tympanoplasty with cavity obliteration using an inferior-based musculoperiosteal flap. A comparison between children and adults was conducted. Methods: All surgeries performed by the same expert surgeon from 2016 to 2019 were considered for the study. Patients younger than 18 years old, operated on at Meyer's Children Hospital, formed group A. Patients older than eighteen, operated on at Santo Stefano Hospital, formed group B. Clinical, audiological, and radiological data were collected from medical records. The Air Bone Gap (ABG) was used to assess the audiological results, and outpatient evaluations were considered to detect cases of recurrence. Results: Group A and Group B are composed of 23 and 25 patients, respectively. The postoperative ABG is 30.7 dBHL in group A and 29.5 dBHL in group B. The rate of recurrence is 17.2% in children and 8% in adults. The recurrence of cholesteatoma occurred in five children (21.8%) after an average follow-up of 18 months and in three adults (12%) after an average follow-up of 24 months. Conclusion: The surgical approach to CCOM in children aims to be as conservative as possible. The greater extension of the pathology is correlated with a greater erosion of the ossicular chain. According to our experience, open tympanoplasty with the obliterative technique allows us to obtain good anatomical and audiological outcomes, both in adults and children.
{"title":"Canal Wall Down Timpanoplasty with Partial Mastoid Obliteration in Children and Adults Affected by Chronic Otitis Media with Cholesteatoma.","authors":"Mariapaola Guidi, Mario Ciniglio Appiani, Federica Pollastri, Marella Reale, Luca Leone, Saverio Caini, Franco Trabalzini","doi":"10.5152/iao.2025.241464","DOIUrl":"10.5152/iao.2025.241464","url":null,"abstract":"<p><p>Background: The aim of the study is to evaluate the incidence of recurrence of acquired cholesteatoma and functional outcomes in patients who underwent CWD tympanoplasty with cavity obliteration using an inferior-based musculoperiosteal flap. A comparison between children and adults was conducted. Methods: All surgeries performed by the same expert surgeon from 2016 to 2019 were considered for the study. Patients younger than 18 years old, operated on at Meyer's Children Hospital, formed group A. Patients older than eighteen, operated on at Santo Stefano Hospital, formed group B. Clinical, audiological, and radiological data were collected from medical records. The Air Bone Gap (ABG) was used to assess the audiological results, and outpatient evaluations were considered to detect cases of recurrence. Results: Group A and Group B are composed of 23 and 25 patients, respectively. The postoperative ABG is 30.7 dBHL in group A and 29.5 dBHL in group B. The rate of recurrence is 17.2% in children and 8% in adults. The recurrence of cholesteatoma occurred in five children (21.8%) after an average follow-up of 18 months and in three adults (12%) after an average follow-up of 24 months. Conclusion: The surgical approach to CCOM in children aims to be as conservative as possible. The greater extension of the pathology is correlated with a greater erosion of the ossicular chain. According to our experience, open tympanoplasty with the obliterative technique allows us to obtain good anatomical and audiological outcomes, both in adults and children.</p>","PeriodicalId":94238,"journal":{"name":"The journal of international advanced otology","volume":"21 1","pages":"1-5"},"PeriodicalIF":0.0,"publicationDate":"2025-01-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11843318/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143401157","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}
Meryem Dilek Acar, Dogukan Özdemir, Arzu Erdal, Seda Koc Sahin
Background: Myringosclerosis is frequently detected after otitis media with effusion treatment via ventilation tube insertion. The study was performed to investigate the effect of bromelain as an antioxidant and anti-inflammatory on myringotomized rats. Methods: The myringotomy operations of 15 Wistar Albino rats were performed under an otomicroscope. Three groups were formed by randomly separating these animals. The day after unilateral myringotomy, the control group was injected with 0.9% NaCl (saline) intraperitoneally (i.p.). The rats of the second group were injected 15 mg/kg/day of bromelain i.p. The third group received 30 mg/kg/day of bromelain i.p. On the 22nd day, the myringotomized ears of the animals were investigated via otomicroscope to determine myringosclerosis. After euthanasia of the animals, tympanic membrane (TM) thickness and inflammation of middle ear mucosa were investigated histopathologically. Results: The control group had higher myringosclerosis scores than the bromelain curative groups (P=.048). The median TM thickness of the control group (64.75 µm) was higher than the bromelain 15 mg/kg group (34.95 µm) (P=.009) and the bromelain 30 mg/kg group (27.84 µm) (P=.008). The inflammation scores were higher in the control group compared to the bromelain curative groups (P=.039). There were no statistically significant differences according to myringosclerosis scores (P=.117), TM thickness (P=.079), and inflammation scores (P=.490) between the bromelain low and high dose groups. Conclusion: Bromelain treatment prevented the formation of myringosclerosis, reduced TM thickness, and supressed inflammation in myringotomized rats.
{"title":"Histopathological Evaluation of the Effect of Bromelain on Myringosclerosis in Rats.","authors":"Meryem Dilek Acar, Dogukan Özdemir, Arzu Erdal, Seda Koc Sahin","doi":"10.5152/iao.2025.241591","DOIUrl":"10.5152/iao.2025.241591","url":null,"abstract":"<p><p>Background: Myringosclerosis is frequently detected after otitis media with effusion treatment via ventilation tube insertion. The study was performed to investigate the effect of bromelain as an antioxidant and anti-inflammatory on myringotomized rats. Methods: The myringotomy operations of 15 Wistar Albino rats were performed under an otomicroscope. Three groups were formed by randomly separating these animals. The day after unilateral myringotomy, the control group was injected with 0.9% NaCl (saline) intraperitoneally (i.p.). The rats of the second group were injected 15 mg/kg/day of bromelain i.p. The third group received 30 mg/kg/day of bromelain i.p. On the 22nd day, the myringotomized ears of the animals were investigated via otomicroscope to determine myringosclerosis. After euthanasia of the animals, tympanic membrane (TM) thickness and inflammation of middle ear mucosa were investigated histopathologically. Results: The control group had higher myringosclerosis scores than the bromelain curative groups (P=.048). The median TM thickness of the control group (64.75 µm) was higher than the bromelain 15 mg/kg group (34.95 µm) (P=.009) and the bromelain 30 mg/kg group (27.84 µm) (P=.008). The inflammation scores were higher in the control group compared to the bromelain curative groups (P=.039). There were no statistically significant differences according to myringosclerosis scores (P=.117), TM thickness (P=.079), and inflammation scores (P=.490) between the bromelain low and high dose groups. Conclusion: Bromelain treatment prevented the formation of myringosclerosis, reduced TM thickness, and supressed inflammation in myringotomized rats.</p>","PeriodicalId":94238,"journal":{"name":"The journal of international advanced otology","volume":"21 1","pages":"1-6"},"PeriodicalIF":0.0,"publicationDate":"2025-01-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11843273/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143401180","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}
Jawad Abdulla, Yasmin Abbas, Sofia Otero, Simon Morley, Susan Jawad, Charlotte Agrup, Hala Kanona
Background: Over the last decade, delayed gadolinium-enhanced magnetic resonance imaging (MRI) of the inner ear has become increasingly used as an objective marker for the diagnosis of endolymphatic hydrops (EH) in Ménière's disease (MD). This study evaluates the utility of this imaging technique in the first 100 patients scanned at our tertiary center. Methods: A retrospective study was conducted in the Department of Otology and Neuro-otology at University College London Hospitals between October 2020 and May 2022. Patients were classified into 4 groups: "definite MD," "probable MD," isolated cochlear symptoms, and MD-vestibular migraine (VM) overlap syndrome. The local imaging protocol consisted of an intravenous gadolinium (IV-Gd) injection followed by T2 SPACE and 3D-real inversion recovery magnetic resonance imaging (MRI) of the inner ears after 4 hours. Results: The first 100 patients scanned were included. All patients with "definite MD" and MD-VM overlap syndrome had evidence of radiological EH on MRI. About 38% of patients in the "probable MD" group and 25% of patients in the isolated cochlear hydrops group had radiological EH. For the "definite MD" group, 98% of positive scans correlated with disease laterality; this was 87% in the "probable MD" group. Duration of disease >4 years and more severe hearing loss were found to be statistically significant factors for the detection of EH. Conclusion: Our study demonstrates that EH is much more likely to be detected in patients with a clinical diagnosis of "definite MD" or MD-VM overlap syndrome, and also correlates with the increasing duration and severity of symptoms. Further studies using standardized imaging protocols would be helpful in comparing outcomes.
{"title":"The Utility of Contrast-Enhanced 3D-Real Inversion Recovery Magnetic Resonance Imaging in the Diagnosis of Endolymphatic Hydrops-A Retrospective Study of a Newly Implemented Clinical Service at a Tertiary Center.","authors":"Jawad Abdulla, Yasmin Abbas, Sofia Otero, Simon Morley, Susan Jawad, Charlotte Agrup, Hala Kanona","doi":"10.5152/iao.2025.241584","DOIUrl":"10.5152/iao.2025.241584","url":null,"abstract":"<p><p>Background: Over the last decade, delayed gadolinium-enhanced magnetic resonance imaging (MRI) of the inner ear has become increasingly used as an objective marker for the diagnosis of endolymphatic hydrops (EH) in Ménière's disease (MD). This study evaluates the utility of this imaging technique in the first 100 patients scanned at our tertiary center. Methods: A retrospective study was conducted in the Department of Otology and Neuro-otology at University College London Hospitals between October 2020 and May 2022. Patients were classified into 4 groups: \"definite MD,\" \"probable MD,\" isolated cochlear symptoms, and MD-vestibular migraine (VM) overlap syndrome. The local imaging protocol consisted of an intravenous gadolinium (IV-Gd) injection followed by T2 SPACE and 3D-real inversion recovery magnetic resonance imaging (MRI) of the inner ears after 4 hours. Results: The first 100 patients scanned were included. All patients with \"definite MD\" and MD-VM overlap syndrome had evidence of radiological EH on MRI. About 38% of patients in the \"probable MD\" group and 25% of patients in the isolated cochlear hydrops group had radiological EH. For the \"definite MD\" group, 98% of positive scans correlated with disease laterality; this was 87% in the \"probable MD\" group. Duration of disease >4 years and more severe hearing loss were found to be statistically significant factors for the detection of EH. Conclusion: Our study demonstrates that EH is much more likely to be detected in patients with a clinical diagnosis of \"definite MD\" or MD-VM overlap syndrome, and also correlates with the increasing duration and severity of symptoms. Further studies using standardized imaging protocols would be helpful in comparing outcomes.</p>","PeriodicalId":94238,"journal":{"name":"The journal of international advanced otology","volume":"21 1","pages":"1-6"},"PeriodicalIF":0.0,"publicationDate":"2025-01-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11843304/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143401183","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}