The journal of international advanced otology最新文献

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Analysis of L1 Cell Adhesion Molecule and Fucosyltransferase 8 Expression in Cells After Stretch and Human EACSCC Tissue.
The journal of international advanced otology Pub Date : 2025-01-27 DOI: 10.5152/iao.2025.241652
Naotaro Akiyama, Tomomi Yamamoto-Fukuda, Hiromi Kojima
{"title":"Analysis of L1 Cell Adhesion Molecule and Fucosyltransferase 8 Expression in Cells After Stretch and Human EACSCC Tissue.","authors":"Naotaro Akiyama, Tomomi Yamamoto-Fukuda, Hiromi Kojima","doi":"10.5152/iao.2025.241652","DOIUrl":"10.5152/iao.2025.241652","url":null,"abstract":"<p><p>Background: External auditory canal (EAC) squamous cell carcinoma (SCC) is classified as a rare cancer and has a poor prognosis at advanced stages. Mechanical stress has been implicated in external auditory canal squamous cell carcinoma (EACSCC), but the molecular mechanism has not been elucidated. Mechanotransduction is well-known for Yes-associated protein (YAP) signaling. When YAP is translocated to the nucleus, the L1 cell adhesion molecule (L1CAM) is activated as an effector of mechanotransduction. Core fucosylation of L1CAM by Fucosyltransferase 8 (FUT8) has been implicated in the degree of tumor malignancy, modulating cleavage of the extracellular domain of L1CAM. Methods: In this study, an expression analysis of YAP, L1CAM, and FUT8 was performed by stretch assay in vitro. Immunohistochemistry was also performed in human EACSCC and normal skin specimens. Results: The labeling index of FUT8-positive cells exhibited YAP nuclear translocation under stretch stress was significantly higher in a human SCC cell line (HSC1) than in a human keratinocyte cell line. Stretch stress significantly increased the expression levels of full-length L1CAM in HSC1 cells. Moreover, colocalization of FUT8 and L1CAM was demonstrated immunohistochemically in advanced human EACSCC tissues. Conclusion: These results suggested that L1CAM expression is increased under mechanotransduction and may possibly avoid L1CAM cleavage by FUT8 modulation.</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/PMC11843287/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143401151","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}
引用次数: 0
A Case of McCune-Albright Syndrome with External Auditory Canal Stenosis Treated with Image-Guided Surgery System-Assisted Temporal Bone Surgery.
The journal of international advanced otology Pub Date : 2025-01-27 DOI: 10.5152/iao.2025.241749
Takaomi Kurioka, Tatsuya Takenaka, Shingo Yasutake, Yoshiaki Inuzuka, Motohiro Sato, Kunio Mizutari
{"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}
引用次数: 0
Effect of Pycnogenol® on Noise-Induced Hearing Loss in Rats.
The journal of international advanced otology Pub Date : 2025-01-27 DOI: 10.5152/iao.2025.241623
Seher Yılmaz, Caner Yatmaz, Furkan Büyükkal, Alev Cumbul, Işılay Öz, Mustafa Bülent Şerbetçioğlu
{"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}
引用次数: 0
Efficacy of Concentrated Growth Factors in Treating Tympanic Membrane Perforation in Guinea Pigs.
The journal of international advanced otology Pub Date : 2025-01-27 DOI: 10.5152/jiao.2025.241732
Takahiro Hanari, Masahiro Okada, Takahiro Nakata, Sawa Asoh, Eriko Nishihara, Masato Teraoka, Naohito Hato
{"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}
引用次数: 0
Association Between Obstructive Sleep Apnea and Hearing Loss Using 2019-2021 Korea National Health and Nutrition Examination Survey Data.
The journal of international advanced otology Pub Date : 2025-01-27 DOI: 10.5152/iao.2025.231356
Jungmin Ahn, Seung-Eun Hong, Brian Kim, Byeong-Cheol Lee, Lee Myung-Chul, Choi Ik Joon
{"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}
引用次数: 0
Evaluation of Safety and Effectiveness of the LISTENT LCI-20PI Cochlear Implant in Post-Lingually Deafened Individuals.
The journal of international advanced otology Pub Date : 2025-01-27 DOI: 10.5152/iao.2025.241627
Qiang Du, Zengjun Sun, Weijia Kong, Hao Wu, Yun Li, Qi Huang, Chunfu Dai
{"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}
引用次数: 0
Hearing Loss and Turner Syndrome: A Scoping Review.
The journal of international advanced otology Pub Date : 2025-01-27 DOI: 10.5152/iao.2025.241723
Andrea Migliorelli, Andrea Ciorba, Marianna Manuelli, Virginia Corazzi, Francesco Stomeo, Chiara Bianchini, Stefano Pelucchi, Daniele Monzani, Elisabetta Genovese, Silvia Palma
{"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}
引用次数: 0
Canal Wall Down Timpanoplasty with Partial Mastoid Obliteration in Children and Adults Affected by Chronic Otitis Media with Cholesteatoma.
The journal of international advanced otology Pub Date : 2025-01-27 DOI: 10.5152/iao.2025.241464
Mariapaola Guidi, Mario Ciniglio Appiani, Federica Pollastri, Marella Reale, Luca Leone, Saverio Caini, Franco Trabalzini
{"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}
引用次数: 0
A Case Report of Auditory Neuropathy Due to TWNK Gene Mutations.
The journal of international advanced otology Pub Date : 2025-01-27 DOI: 10.5152/iao.2025.241648
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
{"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}
引用次数: 0
An Extensive Bruise on the Hemiface: CARE Clinical Case.
The journal of international advanced otology Pub Date : 2025-01-27 DOI: 10.5152/iao.2025.241710
Mathilde Rausch, Raphaële Quatre
{"title":"An Extensive Bruise on the Hemiface: CARE Clinical Case.","authors":"Mathilde Rausch, Raphaële Quatre","doi":"10.5152/iao.2025.241710","DOIUrl":"10.5152/iao.2025.241710","url":null,"abstract":"<p><p>Cutaneous angiosarcomas of the scalp are rare and aggressive tumors with non-specific appearances. They rarely affect the retroauricular region, and diagnoses are often difficult and delayed. We present the case of an 87-year-old patient referred for a large, spontaneously appearing, and rapidly progressing retroauricular bruise while on anticoagulants. Initial biopsies were negative, and the cervico-facial computed tomography (CT) scan with contrast injection was inconclusive. Despite stopping the anticoagulants, the lesion persisted and extended, leading to new biopsies that revealed a high-grade cutaneous angiosarcoma. Positron emission tomography-computed tomography (PET-CT) detected homolateral supraclavicular lymph node involvement and pleuropulmonary metastases. Given the patient's deteriorating general condition and the metastatic spread of the disease, exclusive comfort care was decided. With a highly variable clinical presentation, the diagnosis of cutaneous angiosarcoma is often delayed and made at a metastatic stage. Optimal treatment remains complete surgical excision followed by radiotherapy, but this is challenging in very extensive tumors.</p>","PeriodicalId":94238,"journal":{"name":"The journal of international advanced otology","volume":"21 1","pages":"1-3"},"PeriodicalIF":0.0,"publicationDate":"2025-01-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11843270/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143401148","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}
引用次数: 0
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