Journal of Audiology and Otology最新文献

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Asymmetry of the Subjective Visual Vertical in Patients With Unilateral Peripheral Vestibular Deficit. 单侧外周前庭功能障碍患者的主观视觉垂直度不对称。
IF 1.1
Journal of Audiology and Otology Pub Date : 2024-07-01 Epub Date: 2024-07-02 DOI: 10.7874/jao.2023.00346
Souad Haijoub, Michel Lacour
{"title":"Asymmetry of the Subjective Visual Vertical in Patients With Unilateral Peripheral Vestibular Deficit.","authors":"Souad Haijoub, Michel Lacour","doi":"10.7874/jao.2023.00346","DOIUrl":"10.7874/jao.2023.00346","url":null,"abstract":"<p><strong>Background and objectives: </strong>Perception of verticality is clinically assessed using the subjective visual vertical (SVV), a test of the otolith system that consists of aligning a bar on the gravitational vertical in darkness. Patients with acute unilateral vestibulopathy (AUVP) show a systematic SVV bias toward the affected side, whichever the side of line orientation. Whether SVV estimates are symmetrical has not been investigated.</p><p><strong>Subjects and methods: </strong>This study included 10 patients with AUVP (vestibular neuritis) and 10 with BPPV (posterior semicircular canal). SVV measurements were made at two preset angles of line orientation (15° and 30°) toward the ipsilateral and contralateral sides, relative to the affected side.</p><p><strong>Results: </strong>The results showed asymmetrical SVV estimates in the AUVP group, with significantly greater SVV errors for ipsilateral than contralateral line orientation, as well as for the preset angle of 30° compared to 15°. SVV estimates were significantly lower in patients with BPPV who also exhibited SVV asymmetry. SVV estimates remained unchanged just after the maneuver and were normalized some days later or after supplementary maneuvers.</p><p><strong>Conclusions: </strong>SVV asymmetry should be routinely considered in the clinic. We recommend individually assessing ipsilateral and contralateral SVV and using at least two preset angles. This allows for a better assessment and diagnosis of otolith organ imbalance that can trigger chronic instability and dizziness. The contribution of neck afferents related to head position in space seems to be the main source of SVV asymmetry.</p>","PeriodicalId":44886,"journal":{"name":"Journal of Audiology and Otology","volume":" ","pages":"213-220"},"PeriodicalIF":1.1,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11273183/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141471473","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
Cognitive Functions and Subjective Hearing in Cochlear Implant Users. 人工耳蜗使用者的认知功能和主观听力。
IF 1.1
Journal of Audiology and Otology Pub Date : 2024-07-01 Epub Date: 2024-04-30 DOI: 10.7874/jao.2023.00276
Fawen Zhang, Kelli McGuire, Madeline Skeeters, Matthew Barbara, Pamara F Chang, Nanhua Zhang, Jing Xiang, Bin Huang
{"title":"Cognitive Functions and Subjective Hearing in Cochlear Implant Users.","authors":"Fawen Zhang, Kelli McGuire, Madeline Skeeters, Matthew Barbara, Pamara F Chang, Nanhua Zhang, Jing Xiang, Bin Huang","doi":"10.7874/jao.2023.00276","DOIUrl":"10.7874/jao.2023.00276","url":null,"abstract":"<p><strong>Background and objectives: </strong>A cochlear implant (CI) is an effective prosthetic device used to treat severe-to-profound hearing loss. The present study examined cognitive function in CI users by employing a web-based cognitive testing platform, i.e., BrainCheck, and explored the correlation between cognitive function and subjective evaluation of hearing.</p><p><strong>Subjects and methods: </strong>Forty-two CI users (mean age: 58.90 years) were surveyed in the subjective evaluation of hearing, and 20/42 participated in the BrainCheck cognitive tests (immediate recognition, Trail Making A, Trail Making B, Stroop, digit symbol substitution, and delayed recognition). As controls for cognitive function, young normal-hearing (YNH, mean age=23.83 years) and older normal-hearing (ONH, mean age=52.67 years) listener groups were subjected to Brain-Check testing.</p><p><strong>Results: </strong>CI users exhibited poorer cognitive function than the normal hearing groups in all tasks except for immediate and delayed recognition. The highest percentage of CI users who had \"possible\" and \"likely\" cognitive impairment, based on BrainCheck scores (ranging from 0-200), was observed in tests assessing executive function. The composite cognitive score across domains tended to be related to subjective hearing (p=0.07).</p><p><strong>Conclusions: </strong>The findings of the current study suggest that CI users had a higher likelihood of cognitive impairment in the executive function domain than in lower-level domains. BrianCheck online cognitive testing affords a convenient and effective tool to self-evaluate cognitive function in CI users.</p>","PeriodicalId":44886,"journal":{"name":"Journal of Audiology and Otology","volume":" ","pages":"176-185"},"PeriodicalIF":1.1,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11273187/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140854039","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
Horizontal Sound Localization and Spatial Short-Term Memory Span in Hearing-Impaired Listeners and Listeners With Simulated Hearing Loss. 听力受损者和模拟听力受损者的水平声音定位和空间短时记忆跨度。
IF 1.1
Journal of Audiology and Otology Pub Date : 2024-07-01 Epub Date: 2024-07-02 DOI: 10.7874/jao.2023.00206
Hookang Song, Jeong-Sug Kyong, Jae Hee Lee
{"title":"Horizontal Sound Localization and Spatial Short-Term Memory Span in Hearing-Impaired Listeners and Listeners With Simulated Hearing Loss.","authors":"Hookang Song, Jeong-Sug Kyong, Jae Hee Lee","doi":"10.7874/jao.2023.00206","DOIUrl":"10.7874/jao.2023.00206","url":null,"abstract":"<p><strong>Background and objectives: </strong>Localization of a sound source in the horizontal plane depends on the listener's interaural comparison of arrival time and level. Hearing loss (HL) can reduce access to these binaural cues, possibly disrupting the localization and memory of spatial information. Thus, this study aimed to investigate the horizontal sound localization performance and the spatial short-term memory in listeners with actual and simulated HL.</p><p><strong>Subjects and methods: </strong>Seventeen listeners with bilateral symmetric HL and 17 listeners with normal hearing (NH) participated in the study. The hearing thresholds of NH listeners were elevated by a spectrally shaped masking noise for the simulations of unilateral hearing loss (UHL) and bilateral hearing loss (BHL). The localization accuracy and errors as well as the spatial short-term memory span were measured in the free field using a set of 11 loudspeakers arrayed over a 150° arc.</p><p><strong>Results: </strong>The localization abilities and spatial short-term memory span did not significantly differ between actual BHL listeners and BHL-simulated NH listeners. Overall, the localization performance with the UHL simulation was approximately twofold worse than that with the BHL simulation, and the hearing asymmetry led to a detrimental effect on spatial memory. The mean localization score as a function of stimulus location in the UHL simulation was less than 30% even for the front (0° azimuth) stimuli and much worse on the side closer to the simulated ear. In the UHL simulation, the localization responses were biased toward the side of the intact ear even when sounds were coming from the front.</p><p><strong>Conclusions: </strong>Hearing asymmetry induced by the UHL simulation substantially disrupted the localization performance and recall abilities of spatial positions encoded and stored in the memory, due to fewer chances to learn strategies to improve localization. The marked effect of hearing asymmetry on sound localization highlights the need for clinical assessments of spatial hearing in addition to conventional hearing tests.</p>","PeriodicalId":44886,"journal":{"name":"Journal of Audiology and Otology","volume":" ","pages":"203-212"},"PeriodicalIF":1.1,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11273189/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141471474","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
Double Primary Cancers of Earlobe Merkel Cell Carcinoma and Lung Adenocarcinoma. 耳垂梅克尔细胞癌和肺腺癌双原发癌。
IF 1.1
Journal of Audiology and Otology Pub Date : 2024-07-01 Epub Date: 2024-02-22 DOI: 10.7874/jao.2023.00479
Kyung Il Jang, So Yun Lim, Jeon Mi Lee, Eun-Ju Jeon, Hyun Jin Lee
{"title":"Double Primary Cancers of Earlobe Merkel Cell Carcinoma and Lung Adenocarcinoma.","authors":"Kyung Il Jang, So Yun Lim, Jeon Mi Lee, Eun-Ju Jeon, Hyun Jin Lee","doi":"10.7874/jao.2023.00479","DOIUrl":"10.7874/jao.2023.00479","url":null,"abstract":"<p><p>Merkel cell carcinoma (MCC) is an aggressive neuroendocrine carcinoma with a high rate of metastasis. MCC is rarely suspected during clinical examination, thus requiring biopsy to establish a pathologic diagnosis. In addition, MCC sometimes occurs in double primary cancers. Although there have been reviews on double primary cancers, only a few cases involving MCC have been described. Herein, we report a case of a 54-year-old female patient who presented to our clinic with a diagnosis of earlobe MCC following an excisional biopsy performed by another clinic. Further evaluation, including chest imaging, revealed a mass in the lung. The patient underwent a wide excision of the right earlobe, and video-assisted thoracic surgery on the lung. Pathology confirmed MCC in the right earlobe and adenocarcinoma in the lung. The patient underwent postoperative adjuvant chemotherapy followed by radiotherapy. Up to this point, 3 years after the surgery, there has been no evidence of recurrence.</p>","PeriodicalId":44886,"journal":{"name":"Journal of Audiology and Otology","volume":" ","pages":"236-240"},"PeriodicalIF":1.1,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11273190/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139933432","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
Development and Validation of the Spatial Separation Sentence Test in Kannada. 坎纳达语空间隔离句子测试的开发与验证
IF 1.1
Journal of Audiology and Otology Pub Date : 2024-07-01 Epub Date: 2024-04-30 DOI: 10.7874/jao.2023.00325
Asish Mervin Hermon, Kanaka Ganapathy, Hari Prakash Palaniswamy, Arivudai Nambi Pitchai Muthu
{"title":"Development and Validation of the Spatial Separation Sentence Test in Kannada.","authors":"Asish Mervin Hermon, Kanaka Ganapathy, Hari Prakash Palaniswamy, Arivudai Nambi Pitchai Muthu","doi":"10.7874/jao.2023.00325","DOIUrl":"10.7874/jao.2023.00325","url":null,"abstract":"<p><strong>Background and objectives: </strong>This study aimed to develop and validate a modified version of the Speech in Noise Sentence Test in Kannada, which would be appropriate for testing the speech comprehension ability of children aged 8-12 years.</p><p><strong>Subjects and methods: </strong>A total of 120 sentences were chosen from 200 familiar sentences and split into four lists. Continuous discourse was used as a competition or distractor. Using MATLAB, the target stimulus was presented at 0-degree azimuth while the distractor's location varied (+90° and -90° azimuth). The test was programmed to dynamically adjust the signal-to-noise ratio (SNR) based on participants' responses. After initial validation, a pilot study was conducted with 60 typically hearing children aged 8 to 12 years.</p><p><strong>Results: </strong>The SNR50 scores significantly improved when the distractor and target sentences were spatially separated across all groups. Age had a significant influence on the spatial separation scores. The test-retest reliability was excellent.</p><p><strong>Conclusions: </strong>The developed stimuli effectively measured spatial separation, and the normative and psychometric analyses demonstrated reliable outcomes.</p>","PeriodicalId":44886,"journal":{"name":"Journal of Audiology and Otology","volume":" ","pages":"228-235"},"PeriodicalIF":1.1,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11273185/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140868461","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
Digital Therapeutics in Hearing Healthcare: Evidence-Based Review. 听力保健中的数字疗法:基于证据的综述。
IF 1.1
Journal of Audiology and Otology Pub Date : 2024-07-01 Epub Date: 2024-07-09 DOI: 10.7874/jao.2023.00780
Noori Kim, Keisuke Alexander Nakamura
{"title":"Digital Therapeutics in Hearing Healthcare: Evidence-Based Review.","authors":"Noori Kim, Keisuke Alexander Nakamura","doi":"10.7874/jao.2023.00780","DOIUrl":"10.7874/jao.2023.00780","url":null,"abstract":"<p><p>Digital therapeutics (DTx) in hearing research have emerged as a new category of therapies providing evidence-based intervention via digital means, such as software, smartphone apps, or websites. However, although relatively new, they are not well-established. In this article, we review DTx technologies in hearing research fields, focusing on three categories: prevention and diagnosis, aid (assistance), and cure (digital medicine). We observe that most DTx systems require interactions with users (or patients) without the direct support of clinical professionals to obtain or collect medical evidence; this makes training (or education) features crucial to the therapy's success. In this view, this article discusses the education or training functions of the current DTx and their contribution and purposes. The impact of emerging artificial intelligence (AI) on DTx in hearing research is being explored, and the future of DTx concerning AI integration is being discussed. We believe that this work will contribute to a better understanding of the current and future DTx technological advancements and, in particular, shed light on the field of hearing research.</p>","PeriodicalId":44886,"journal":{"name":"Journal of Audiology and Otology","volume":" ","pages":"159-166"},"PeriodicalIF":1.1,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11273188/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141555665","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
Current Issues With Pediatric Cochlear Implantation 小儿人工耳蜗植入的当前问题
IF 1.1
Journal of Audiology and Otology Pub Date : 2024-04-10 DOI: 10.7874/jao.2024.00073
Donald Tan, R. Fujiwara, Kenneth H. Lee
{"title":"Current Issues With Pediatric Cochlear Implantation","authors":"Donald Tan, R. Fujiwara, Kenneth H. Lee","doi":"10.7874/jao.2024.00073","DOIUrl":"https://doi.org/10.7874/jao.2024.00073","url":null,"abstract":"Cochlear implants (CIs) have demonstrated a clear functional benefit in children with severe-to-profound sensorineural hearing loss (SNHL) and thus have gained wide acceptance for treating deafness in the pediatric population. When evaluating young children for cochlear implantation, there are unique considerations beyond the standard issues addressed during surgery in adults. Because of advances in genetic testing, imaging resolution, CI technology, post-implant rehabilitation, and other factors, issues related to CI surgery in children continue to evolve. Such factors have led to changes in candidacy guidelines, vaccine requirements, and lowering of age requirement for surgery. In addition, differences in the anatomy and physiology of infants require special attention to ensure safety when operating on young children. This review summarizes these issues and provides guidance for surgeons treating children with SNHL.","PeriodicalId":44886,"journal":{"name":"Journal of Audiology and Otology","volume":"644 1","pages":""},"PeriodicalIF":1.1,"publicationDate":"2024-04-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140719254","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Clinical Applications of Intracochlear Electrocochleography in Cochlear Implant Users With Residual Acoustic Hearing 人工耳蜗植入者残余听力的蜗内耳电图临床应用
IF 1.1
Journal of Audiology and Otology Pub Date : 2024-04-10 DOI: 10.7874/jao.2024.00129
Jeong-Seo Kim
{"title":"Clinical Applications of Intracochlear Electrocochleography in Cochlear Implant Users With Residual Acoustic Hearing","authors":"Jeong-Seo Kim","doi":"10.7874/jao.2024.00129","DOIUrl":"https://doi.org/10.7874/jao.2024.00129","url":null,"abstract":"We herein review the use of electrocochleography (ECoG) to assess peripheral auditory system responsiveness in a growing population of cochlear implant (CI) users with preserved hearing in ears with implants. Twenty-eight recently published intracochlear ECoG articles were thoroughly reviewed to investigate the prognostic utility of intraoperative ECoG monitoring to assess hearing preservation, and the clinical applicability of postoperative ECoG for estimating audiometric thresholds and monitoring longitudinal changes in residual acoustic hearing in patients with EAS. Intraoperative ECoG studies have focused on monitoring the changes in the cochlear microphonics (CM) amplitudes during and after electrode insertion. Mixed results have been reported regarding the relationship between changes in CM amplitude in the operating room and changes in hearing thresholds after surgery. Postoperative ECoG studies have shown that CM and auditory nerve neurophonics thresholds correlate significantly with behavioral thresholds. ECoG thresholds sensitively detect changes as residual acoustic hearing decreases over time in some CI users. This indicates its potential clinical value for monitoring the post-implantation status of the peripheral auditory system. Intracochlear ECoG can provide real-time intraoperative feedback and monitor postoperative hearing preservation in a growing population of CI users.","PeriodicalId":44886,"journal":{"name":"Journal of Audiology and Otology","volume":"14 1","pages":""},"PeriodicalIF":1.1,"publicationDate":"2024-04-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140716937","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The Role of Measuring Preoperative Social Maturation Score in Children With Additional Needs Who Underwent Cochlear Implantation 测量术前社交成熟度评分对接受人工耳蜗植入术的有额外需求儿童的作用
IF 1.1
Journal of Audiology and Otology Pub Date : 2024-04-10 DOI: 10.7874/jao.2024.00101
Ji Won Choi, Yun Ji Lee, W. Kang, J. Ahn, Hong Ju Park, Jong Woo Chung
{"title":"The Role of Measuring Preoperative Social Maturation Score in Children With Additional Needs Who Underwent Cochlear Implantation","authors":"Ji Won Choi, Yun Ji Lee, W. Kang, J. Ahn, Hong Ju Park, Jong Woo Chung","doi":"10.7874/jao.2024.00101","DOIUrl":"https://doi.org/10.7874/jao.2024.00101","url":null,"abstract":"Background and Objectives: Additional needs refer to specific requirements or support for individuals with disabilities or syndromes. Intellectual ability is a crucial outcome determinant of a cochlear implant. The social quotient (SQ) is an indirect predictor of intellectual capacity and social skills. This study aimed to investigate the clinical significance of the SQ on children with additional needs who received cochlear implants. Subjects andMethods: This study included 24 patients with diagnosed developmental delays and syndromes, who demonstrated SQ scores of <70. Preoperative social skills were evaluated using the SQ. All patients underwent cochlear implantation (CI) surgery before 7 years of age. Outcomes were evaluated using the Infant-Toddler Meaningful Auditory Integration Scale (IT-MAIS) and Categories of Auditory Performance (CAP) scores. Data were collected through a retrospective chart review.Results: Children were categorized into three groups based on their SQ. There were no correlations between the preoperative SQ and IT-MAIS or CAP scores at 2 and 5 years of follow-up postoperatively. The CI outcomes of children with low SQ (<70) differed from those with normal development (SQ>70). In the low-SQ group, inner ear anomalies were observed in 10 (41.7%) patients. Although not statistically significant, these children exhibited a trend of lower average outcomes than children without inner ear anomalies.Conclusions: CI outcomes in children with additional needs positively affected auditory performance. Postoperative auditory and language skills tended to improve slowly in children with additional needs and a lower SQ. Over time, development gradually became more comparable to the other groups of children. However, this improvement was less than that observed in children without additional needs. Our findings support CI for children with additional needs as part of long-term auditory rehabilitation following surgery.","PeriodicalId":44886,"journal":{"name":"Journal of Audiology and Otology","volume":"753 1","pages":""},"PeriodicalIF":1.1,"publicationDate":"2024-04-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140719135","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Updates on Genetic Hearing Loss: From Diagnosis to Targeted Therapies 遗传性听力损失的最新进展:从诊断到靶向治疗
IF 1.1
Journal of Audiology and Otology Pub Date : 2024-04-10 DOI: 10.7874/jao.2024.00157
Y. Yun, Sang-Yeon Lee
{"title":"Updates on Genetic Hearing Loss: From Diagnosis to Targeted Therapies","authors":"Y. Yun, Sang-Yeon Lee","doi":"10.7874/jao.2024.00157","DOIUrl":"https://doi.org/10.7874/jao.2024.00157","url":null,"abstract":"Sensorineural hearing loss (SNHL) is the most common sensory disorder, with a high Mendelian genetic contribution. Considering the genotypic and phenotypic heterogeneity of SNHL, the advent of next-generation sequencing technologies has revolutionized knowledge on its genomic architecture. Nonetheless, the conventional application of panel and exome sequencing in real-world practice is being challenged by the emerging need to explore the diagnostic capability of whole-genome sequencing, which enables the detection of both noncoding and structural variations. Small molecules and gene therapies represent good examples of how breakthroughs in genetic understanding can be translated into targeted therapies for SNHL. For example, targeted small molecules have been used to ameliorate autoinflammatory hearing loss caused by gain-of-function variants of NLRP3 and inner ear proteinopathy with OSBPL2 variants underlying dysfunctional autophagy. Strikingly, the successful outcomes of the first-in-human trial of OTOF gene therapy highlighted its potential in the treatment of various forms of genetic hearing loss. clustered regularly interspaced short palindromic repeats (CRISPR)-based technologies are currently being developed for site-specific genome editing to treat human genetic disorders. These advancements have led to an era of genotype- and mechanism-based precision medicine in SNHL practice.","PeriodicalId":44886,"journal":{"name":"Journal of Audiology and Otology","volume":"119 2","pages":""},"PeriodicalIF":1.1,"publicationDate":"2024-04-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140720047","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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