Sensorineural hearing loss

感音神经性听力损失
  • 文章类型: Journal Article
    为了评估选择性5-羟色胺再摄取抑制剂(SSRIs)和三环抗抑郁药(TCA)在减少眩晕中的作用,耳鸣,梅尼埃病(MD)患者的听力损失。
    本范围审查中使用了以下数据库:OvidMedline,PubMed-NCBI,CINAHL,科克伦图书馆,WebofScience,和临床试验。
    通过以下搜索短语确定了研究:“5-羟色胺特异性再摄取抑制剂”或“三环抗抑郁药”和“梅尼埃病”。“对纳入手稿的参考文献进行了检查,以可能纳入其他研究。
    文献检索产生了23个结果,由三名独立审稿人筛选。排除17项研究和3项重复。对纳入研究的参考文献的检查产生了另外两个出版物。最终纳入了在147名MD患者中评估SSRIs和TCA的4项已发表的研究。四项研究描述了与治疗前基线相比,接受SSRIs或TCA治疗的患者的眩晕发作频率显着降低。三项研究评估了药物对听力的影响,其中在接受SSRIs或TCA治疗的患者中没有发现显着差异。一项研究发现,与治疗前基线相比,TCA或SSRI治疗后患者报告的耳鸣显着减少。
    在MD患者中探索SSRIs和TCA的数据表明,这些药物可以降低耳鸣和眩晕的频率,尽管结果报告存在显著异质性.仍然需要更大规模的前瞻性研究,强调客观数据来评估其减轻常见MD症状的有效性。
    UNASSIGNED: To assess the effect of selective serotonin reuptake inhibitors (SSRIs) and tricyclic antidepressants (TCAs) in reducing vertigo, tinnitus, and hearing loss among patients with Meniere\'s disease (MD).
    UNASSIGNED: The following databases were utilized in this scoping review: Ovid Medline, PubMed-NCBI, CINAHL, Cochrane Library, Web of Science, and Clinicaltrials.gov.
    UNASSIGNED: Studies were identified through the following search phrases: \"serotonin specific reuptake inhibitors\" OR \"tricyclic antidepressants\" AND \"Meniere\'s disease.\" References from included manuscripts were examined for possible inclusion of additional studies.
    UNASSIGNED: The literature search yielded 23 results, which were screened by three independent reviewers. Seventeen studies and three duplicates were excluded. An examination of references from the included studies yielded two additional publications. A total of four published studies assessing SSRIs and TCAs among 147 patients with MD were ultimately included. Four studies described significant reductions in vertigo attack frequency among patients treated with either SSRIs or TCAs compared to their pretreatment baseline. Three studies assessed the drugs\' effects on hearing, of which none found a significant difference among patients treated with SSRIs or TCAs. One study found a significant decrease in patient-reported tinnitus following treatment with TCAs or SSRIs compared to their pretreatment baseline.
    UNASSIGNED: Data exploring SSRIs and TCAs among patients with MD suggests that these medications may reduce the frequency of tinnitus and vertigo, although there was significant heterogeneity in outcome reporting. There remains a need for larger-scale prospective studies that emphasize objective data to evaluate their effectiveness in reducing common MD symptoms.
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  • 文章类型: Case Reports
    音乐幻觉(MH)代表了一种罕见而复杂的听觉现象,即个人在没有外部刺激的情况下感知音乐。本案例研究探讨了一名患有双侧感觉神经性听力损失史的51岁男性的听觉CharlesBonnet综合征(ACBS)。患者报告说听到了可识别的祈祷圣歌,最初被认为是来自附近寺庙的外部声音。随着时间的推移,这些幻觉持续存在并干扰了他的日常活动,提示医疗咨询。尽管没有精神病,患者被诊断为ACBS并接受利培酮治疗,非典型抗精神病药.干预导致幻觉的频率和强度显着降低,同时改善睡眠和注意力。患者在停药后也出现了症状复发,强调坚持治疗的重要性。此案例强调了对听力障碍患者非精神病性幻听的认识和理解的必要性。MH的病理生理学尚未完全了解,但据信由于感觉剥夺而涉及听觉联想皮层的异常活动。治疗方法通常包括药理学和非药理学策略。比如用辅助设备优化听力和提供心理教育。这项研究为ACBS的有限文献做出了贡献,并强调了抗精神病药物在治疗MH中的功效。进一步的研究对于探索潜在的机制并为经历这些令人痛苦的听觉现象的患者制定全面的管理计划至关重要。研究结果提倡多学科的治疗方法,整合听力学和精神病学护理,以改善患者的预后。
    Musical hallucinations (MH) represent a rare and complex auditory phenomenon where individuals perceive music without external stimuli. This case study explores auditory Charles Bonnet syndrome (ACBS) in a 51-year-old male with a history of bilateral sensorineural hearing loss. The patient reported hearing recognizable prayer chants, initially perceived as external sounds from a nearby temple. Over time, these hallucinations persisted and interfered with his daily activities, prompting medical consultation. Despite the absence of psychiatric illness, the patient was diagnosed with ACBS and treated with risperidone, an atypical antipsychotic. The intervention led to a significant reduction in the frequency and intensity of the hallucinations, alongside improved sleep and concentration. The patient also experienced a recurrence of symptoms upon discontinuation of the medication, highlighting the importance of adherence to treatment. This case underscores the need for awareness and understanding of non-psychotic auditory hallucinations in individuals with hearing impairments. The pathophysiology of MH is not fully understood but is believed to involve abnormal activity in the auditory associative cortices due to sensory deprivation. Treatment approaches often include both pharmacological and non-pharmacological strategies, such as optimizing hearing with aids and providing psychoeducation. This study contributes to the limited literature on ACBS and emphasizes the efficacy of antipsychotics in managing MH. Further research is essential to explore the underlying mechanisms and to develop comprehensive management plans for patients experiencing these distressing auditory phenomena. The findings advocate for a multidisciplinary approach to treatment, integrating audiological and psychiatric care to improve patient outcomes.
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  • 文章类型: Journal Article
    了解个别患者的耳蜗解剖结构有助于改善耳蜗植入过程中的电极选择和放置,以及手术计划。本研究的目的是开发一种无模型的自动分割算法,以从临床计算机断层扫描(CT)扫描中获得描述个人耳蜗解剖结构的3D表面,并可用于定量分析耳蜗的垂直轨迹。
    对临床CT扫描进行重新定位和重新切片以获得中牙片。使用这些切片,我们分割了耳蜗的横截面。
    获得了648个耳蜗的前1.5圈的3D表面。验证我们的算法对手动分割的地面事实从8微CT扫描获得显示良好的一致性,90%的区域重叠,分割轮廓之间的平均距离为0.11mm。基底转弯的平均耳蜗导管长度沿中心路径为16.1mm,沿外壁为22.4mm。使用一种内在的,独立于观察者的坐标系和主成分分析可以对耳蜗的垂直轨迹进行明确的定量评估,仅揭示了常用的基础转弯直径的对称性(A和B直径的B比)与垂直轨迹的轮廓之间的弱相关性。
    一种无模型分割算法可以实现与以前发布的依靠统计形状的方法相似的精度。垂直轨迹的定量分析可以代替过山车的分类,倾斜,或中间垂直轨迹类型。
    UNASSIGNED: Knowledge of the cochlear anatomy in individual patients is helpful for improving electrode selection and placement during cochlear implantation, as well as in surgical planning. The aim of this study was to develop a model-free automated segmentation algorithm to obtain 3D surfaces from clinical computed tomography (CT) scans that describe an individual\'s cochlear anatomy and can be used to quantitatively analyze the cochlea\'s vertical trajectory.
    UNASSIGNED: Clinical CT scans were re-oriented and re-sliced to obtain mid-modiolar slices. Using these slices, we segmented the cross-section of the cochlea.
    UNASSIGNED: 3D surfaces were obtained for the first 1.5 turns of 648 cochleae. Validation of our algorithm against the manually segmented ground truth obtained from 8 micro-CT scans showed good agreement, with 90 % area overlap and an average distance of 0.11 mm between the segmentation contours. The average cochlear duct length for the basal turn was 16.1 mm along the central path and 22.4 mm along the outer wall. The use of an intrinsic, observer-independent coordinate system and principal component analysis enabled unambiguous quantitative evaluation of the vertical trajectory of the cochlea, revealing only a weak correlation between the symmetry of the commonly used basal turn diameters (B-ratio of A and B diameters) and the profile of the vertical trajectory.
    UNASSIGNED: A model-free segmentation algorithm can achieve similar accuracy as previously published methods relying on statistical shapes. Quantitative analysis of the vertical trajectory can replace the categorization into rollercoaster, sloping, or intermediate vertical trajectory types.
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  • 文章类型: Journal Article
    炎症饮食可引发慢性炎症并影响肠道微生物群。然而,饮食偏好与感音神经性耳聋(SNHL)之间的关系尚不清楚.本研究旨在阐明不同饮食偏好与感音神经性耳聋之间的关系。
    饮食炎症指数(DII)和SNHL由国家健康和营养调查(NHANES)的数据定义,探索他们的关系。使用孟德尔随机化(MR)分析34种饮食偏好之间的关系,211肠道菌群,SNHL。
    平滑曲线拟合表明,当DII评分大于5.15时,SNHL的风险随DII评分的增加而增加。MR结果表明,包括油性和非油性鱼类的饮食可以大大降低SNHL的风险。此外,发现六个特定的肠道微生物群与SNHL有显著的因果关系。
    炎症性饮食可能会增加发生SNHL的风险。观察到的鱼类消费之间的关系,肠道菌群,SNHL表明存在肠内耳轴。
    UNASSIGNED: Inflammatory diets can trigger chronic inflammation and affect gut microbiota. However, the relationship between dietary preferences and sensorineural hearing loss (SNHL) remains unclear. This study aims to elucidate the relationship between different dietary preferences and sensorineural deafness.
    UNASSIGNED: The Dietary Inflammation Index (DII) and SNHL were defined by data from the National Health and Nutrition Examination Survey (NHANES), and exploring their relationship. Using Mendelian randomization (MR) to analyze the relationship between 34 dietary preferences, 211 gut microbiota, and SNHL.
    UNASSIGNED: Smooth curve fitting indicated that the risk of SNHL increased with increasing DII score when the DII score was greater than 5.15. MR results suggest that a diet including both oily and non-oily fish can substantially reduce the risk of SNHL. Additionally, six specific gut microbiota were found to have significant causal relationship with SNHL.
    UNASSIGNED: An inflammatory diet may increase the risk of developing SNHL. The observed relationship between fish consumption, gut microbiota, and SNHL suggests the existence of a gut-inner ear axis.
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  • 文章类型: Journal Article
    感觉神经性听力损失(SNHL)儿童由于前庭功能受损和平衡能力降低而生活困难和活动受限。
    本研究评估了拉丁舞训练对SNHL儿童前庭功能和平衡的影响。
    将30名前庭功能和平衡能力无差异的SNHL儿童随机分为两组,拉丁舞训练组(LTG,n=15)和对照组(CONG,n=15)。前庭功能,在干预前后测量定时闭眼静态(ECS)和功能达到测试(FRT),并进行了双向重复测量方差分析。
    训练后,LTG的前庭功能表现高于CONG(CONG:16.425±3.616vs.LTG:12.241±2.610,p=0.0411,ES=1.3914),LTG的左足ECS性能高于CONG(CONG:2.765±0.872vs.LTG:4.688±1.113,p=0.0026,ES=1.9857),LTG的右脚ECS性能高于CONG(CONG:3.113±0.639。LTG:4.797±1.071,p=0.0137,ES=2.01),LTG的FRT性能高于CONG(CONG:32.009±6.134vs.LTG:43.797±6.616,p=0.0021,ES=1.9135)。
    拉丁舞训练结束后,SNHL患儿改善前庭功能和平衡。左脚的静态平衡能力比右脚有了明显的提高。
    UNASSIGNED: Sensorineural hearing loss (SNHL) children have difficulty living and limited movement due to impaired vestibular function and reduced balance ability.
    UNASSIGNED: The present study evaluated the effects of Latin dance training on the vestibular function and balance of SNHL children.
    UNASSIGNED: Thirty SNHL children with no difference in vestibular function and balance ability were randomly divided into two groups, the Latin dance training group (LTG, n = 15) and the control group (CONG, n = 15). Vestibular function, timed eyes-closed static (ECS) and functional reach test (FRT) were measured before and after the intervention, and a two-way repeated-measures analysis of variance was performed.
    UNASSIGNED: After training, the vestibular function performance of LTG was higher than that of CONG (CONG: 16.425 ± 3.616 vs. LTG: 12.241 ± 2.610, p = 0.0411, ES = 1.3914), the left foot ECS performance of LTG was higher than that of CONG (CONG: 2.765 ± 0.872 vs. LTG: 4.688 ± 1.113, p = 0.0026, ES = 1.9857), the right foot ECS performance of LTG was higher than that of CONG (CONG: 3.113 ± 0.639 vs. LTG: 4.797 ± 1.071, p = 0.0137, ES = 2.01), the FRT performance of LTG was higher than that of CONG (CONG: 32.009 ± 6.134 vs. LTG: 43.797 ± 6.616, p = 0.0021, ES = 1.9135).
    UNASSIGNED: After Latin dance training, SNHL children improved vestibular function and balance. The static balance ability of the left foot has been improved significantly than right foot.
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  • 文章类型: Journal Article
    感觉神经性听力损失(SNHL),以内耳或听觉神经受损为特征,是一种普遍的听觉障碍。本研究探讨了con子(CAE)作为SNHL治疗剂的潜力。使用斑马鱼和小鼠模型进行体内实验。用CAE处理具有新霉素诱导的耳毒性的斑马鱼,导致耳毛细胞保护,EC50为0.49µg/mL,治疗指数为1020。在噪声诱发的听力损失(NIHL)后,CAE治疗可改善小鼠模型的听觉功能并保护耳蜗感觉细胞。NIHL小鼠耳蜗的RNA测序显示CAE上调参与神经递质合成的基因,分泌,运输,和神经元存活。实时qPCR验证显示NIHL降低了神经元功能相关基因的mRNA表达,如Gabra1,Gad1,Slc32a1,CaMK2b,CaMKIV,和Slc17a7,而CAE治疗显着提高了这些水平。总之,我们的研究结果提供了强有力的证据,证明CAE通过促进感觉细胞保护和增强对神经元功能和存活至关重要的基因的表达来保护听力损失.
    Sensorineural hearing loss (SNHL), characterized by damage to the inner ear or auditory nerve, is a prevalent auditory disorder. This study explores the potential of Castanopsis echinocarpa (CAE) as a therapeutic agent for SNHL. In vivo experiments were conducted using zebrafish and mouse models. Zebrafish with neomycin-induced ototoxicity were treated with CAE, resulting in otic hair cell protection with an EC50 of 0.49 µg/mL and a therapeutic index of 1020. CAE treatment improved auditory function and protected cochlear sensory cells in a mouse model after noise-induced hearing loss (NIHL). RNA sequencing of NIHL mouse cochleae revealed that CAE up-regulates genes involved in neurotransmitter synthesis, secretion, transport, and neuronal survival. Real-time qPCR validation showed that NIHL decreased the mRNA expression of genes related to neuronal function, such as Gabra1, Gad1, Slc32a1, CaMK2b, CaMKIV, and Slc17a7, while the CAE treatment significantly elevated these levels. In conclusion, our findings provide strong evidence that CAE protects against hearing loss by promoting sensory cell protection and enhancing the expression of genes critical for neuronal function and survival.
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  • 文章类型: Journal Article
    背景:保留耳蜗结构,从而保护听力,已成为耳蜗植入(CI)手术中讨论的一个重要话题。已经描述了当接近内耳时的各种方法和软外科手术技术。机器人辅助的耳蜗植入手术(RACIS)通过遵循最小创伤的轨迹以微创方式到达圆窗。这涉及到圆窗的钥匙孔轨迹的钻孔,穿过面部凹陷,不需要完整的乳突切除术.它涉及更少的钻探,更少的钻井时间和更少的结构损伤。听力损失的结构性创伤性原因引起了很多关注,但内耳暴露期间的听觉创伤似乎被忽略。
    目的:目的是测量圆窗的乳突和骨悬垂的机器人钻孔过程中内耳的噪声暴露。将结果与常规人工耳蜗植入手术中的铣削进行比较。
    方法:对新鲜冷冻的人类尸体进行RACIS。
    方法:从噪声损伤模型得出的等效频率加权和时间平均声压级LAF(以dB为单位)和噪声剂量(以%为单位),两者都是在RACIS期间获得的。
    方法:对内耳进行了6个轨迹的机器人钻孔,包括通过圆形窗口进入的4条轨迹和通过耳蜗造口术的2条轨迹。将结果与文献中已描述的7例常规CI手术的数据进行比较。诱导的等效声压级LAF是通过the弓的加速传感器确定的,并根据骨传导测听法进行校准。使用噪声损伤模型从等效声压级LAF和暴露时间计算整个过程的噪声剂量。100%的噪声剂量被认为是临界暴露极限,上述值被认为是潜在有害的,有听力障碍的风险。
    结果:基准螺钉放置期间的最大LAF为82dB;中耳进入期间为87dB;通过圆窗进入95dB,通过耳蜗造口术进入88dB。由HEARO®-程序引起的噪声剂量总是远低于100%的临界值。在所有病例中,有5例的噪声剂量小于0.1%的情况下,内耳均无声学损伤。7例常规CI手术中的最大LAF为118dB,最大累积噪声剂量为172.6%。在3例常规CI手术中,超过了100%的临界暴露极限。
    结论:在我们的发现中,RACIS引起的声学创伤明显少于传统的乳突手术。在需要钻骨悬垂的情况下,耳蜗造口术或圆窗方法之间的噪声暴露水平没有可观察到的差异。
    BACKGROUND: Preserving the cochlear structures and thus hearing preservation, has become a prominent topic of discussion in cochlear implant (CI) surgery. Various approaches and soft surgical techniques have been described when approaching the inner ear. Robot-assisted cochlear implant surgery (RACIS) reaches the round window in a minimally invasive manner by following a trajectory of minimal trauma. This involves the drilling of a keyhole trajectory to the round window, through the facial recess, with no need for a complete mastoidectomy. It involves less drilling, less drilling time and less structural damage. A lot of attention has been paid to the structural traumatic causes of hearing loss but acoustic trauma during the exposure of the inner ear appears to be neglected topic.
    OBJECTIVE: The aim was to measure the noise exposure of the inner ear during the robotic drilling of the mastoid and bony overhang of the round window. The results were compared with the milling in conventional cochlear implantation surgery.
    METHODS: RACIS on fresh frozen human cadavers.
    METHODS: The equivalent frequency-weighted and time-averaged sound pressure level LAF in dB and the noise dose in % derived from a noise damage model, both obtained during RACIS.
    METHODS: The robotic drilling of 6 trajectories towards the inner ear were performed, including 4 trajectories through round window access and 2 trajectories through cochleostomy. The results were compared with the data of 7 cases of conventional CI surgery that have been described in literature. The induced equivalent sound pressure level LAF was determined via an accelleration sensor at the zygomatic arch and a calibration according to bone conduction audiometry. A noise dose for the whole procedure was calculated from the equivalent sound pressure level LAF and the exposure time using a noise damage model. A noise dose of 100% is considered a critical exposure limit and values above are considered potentially harmful, with the risk of hearing impairment.
    RESULTS: The maximum LAF was 82 dB during fiducial screw placement; 87 dB during middle ear access; 95 dB for the accesses through the round window and 88 dB for the accesses through cochleostomy. The noise dose due to the HEARO®-procedure was always far below the critical value of 100%. There was no acoustic trauma of the inner ear in all cases with the noise dose being smaller than 0.1% in five out of the six cases. The maximum LAF in the seven cases of conventional CI surgery was 118 dB with a maximum cumulative noise dose of 172.6%. The critical exposure limit of 100% was exceeded in three cases of conventional CI surgery.
    CONCLUSIONS: RACIS provokes significantly less acoustic trauma than conventional mastoid surgery in our findings. There were no observable differences in noise exposure levels between a cochleostomy or a round window approach where the bony overhang needed to be drilled.
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  • 文章类型: English Abstract
    Cochlear implants (CIs) are the treatment of choice for hearing rehabilitation in children with congenital or acquired profound hearing loss or deafness in order to ensure appropriate speech development and avoid social deprivation. However, in the case of a radiologically detectable malformation of the inner ear structures and potentially associated hypo- or aplasia of the vestibulocochlear nerve, application of a CI is either not possible, or the functional outcome may be of limited predictability. In addition, the risk of surgical complications is also increased in these patients. Counseling parents and developing an appropriate individual therapeutic decision can therefore be a major challenge for the medical team. The current paper is intended to provide support in this regard. It presents criteria for various inner ear malformations and discusses possible treatment options.
    UNASSIGNED: Die Versorgung mit einem Cochleaimplantat (CI) ist die Therapie der Wahl zur Hörrehabilitation von Kindern mit einer angeborenen oder erworbenen hochgradigen Schwerhörigkeit oder Taubheit, um eine altersentsprechende sprachliche Entwicklung zu gewährleisten und soziale Deprivation zu vermeiden. Bei einer radiologisch nachweisbaren Malformation der Innenohrstrukturen und einer damit möglicherweise verbundenen Hypo- oder Aplasie des N. vestibulocochlearis ist je nach Ausprägung der Deformität die Versorgung mit einem CI jedoch entweder nicht möglich oder der funktionelle Erfolg nur eingeschränkt vorhersagbar. Darüber hinaus ist bei der chirurgischen Versorgung dieser Patienten auch das Risiko von Komplikationen erhöht. Die Beratung der Eltern und die Entwicklung einer individuellen Therapieentscheidung können daher das behandelnde Team vor eine große Herausforderung stellen. Hierbei soll die vorliegende Arbeit unterstützen. Dazu werden Kriterien verschiedener Innenohrfehlbildungen dargestellt und Versorgungsmöglichkeiten diskutiert.
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  • 文章类型: Journal Article
    目的:已经报道了在给予单克隆抗体teprotumumab后听力损失。这项研究的目的是回顾有关teprotumumab相关耳毒性模式的现有证据。
    方法:PubMed,EMBASE,科克伦图书馆
    方法:使用标准化方法进行系统评价。如果研究包括处方teprotumumab的受试者,则包括这些研究。排除标准包括非英语文章,摘要,信件/评论,病例报告,和评论。没有治疗前和治疗后测听数据的受试者也被排除。使用混合方法评估工具评估偏差。
    结果:从76篇文章的初始搜索中,纳入了109例独特患者的7项研究报告。四项研究是4级证据,1项研究是3级证据,2项研究为2级证据。平均年龄为55±14岁,女性占主导地位(64%)。最常见的症状是听力损失(22%),其次是饱满度(18%)和耳鸣(14%)。总的来说,41%有可用数据的患者符合耳毒性标准,都表现出中频或更高的变化。15例(14%)患者接受了超高频测听测试,8例(53%,8/15)仅在此范围内显示出变化。
    结论:耳毒性可能发生在用teprotumumab治疗的患者中。听力损失主要发生在较高的频率,和常规听力筛查与超高频测试可能是必要的。使用teprotumumab的耳毒性的真实发生率仍然未知,和更多的数据需要阐明潜在的机制和制定战略,以尽量减少风险。
    OBJECTIVE: Hearing loss has been reported after administration of the monoclonal antibody teprotumumab. The purpose of this study was to review available evidence regarding the patterns of teprotumumab-related ototoxicity.
    METHODS: PubMed, EMBASE, and Cochrane Library.
    METHODS: A systematic review was performed using standardized methodology. Studies were included if they included subjects who were prescribed teprotumumab. Exclusion criteria included non-English articles, abstracts, letters/commentaries, case reports, and reviews. Subjects without both pre- and posttreatment audiometric data were also excluded. Bias was assessed using the Mixed Methods Appraisal Tool.
    RESULTS: From an initial search of 76 articles, 7 studies reporting on 109 unique patients were included. Four studies were level 4 evidence, 1 study was level 3 evidence, and 2 studies were level 2 evidence. Mean age was 55 ± 14 years with a female predominance (64%). The most commonly reported symptoms were hearing loss (22%), followed by fullness (18%) and tinnitus (14%). In total, 41% of patients with available data met criteria for ototoxicity, all exhibiting shifts in the middle frequencies or higher. Fifteen (14%) patients underwent ultrahigh frequency audiometric testing and 8 (53%, 8/15) demonstrated shifts exclusively in this range.
    CONCLUSIONS: Ototoxicity may occur in patients treated with teprotumumab. Hearing loss occurs primarily in higher frequencies, and routine hearing screening with ultrahigh frequency testing may be warranted. The true incidence of ototoxicity with teprotumumab remains unknown, and more data is needed to elucidate underlying mechanisms and develop strategies to minimize risks.
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  • 文章类型: Journal Article
    背景:听力损失是一种常见的感觉障碍,会影响患者的整个生命周期。已经鉴定了许多导致非综合征性听力损失的遗传变异。然而,当听力损失被诊断出来时,基因检测不是常规的,尤其是成年人。在这项研究中,在已知听力损失的患者中完成基因检测.
    方法:纳入104例听力损失评估患者并接受基因检测。
    结果:在这104例患者中,39人进行了基因检测,20有一个缺失的等位基因,45例没有基因诊断。在39个有基因检测数据的病例中,24例为单纯病例,15例为多重病例。大多数患者表现为常染色体隐性遗传模式(n=32),其中26人患有先天性听力损失。38%的病例为GJB2突变阳性,c.35delG是最常见的致病变异。这些发现与以前的文献一致,表明GJB2突变是非综合征性听力损失的最常见原因。
    结论:考虑到听力损失患者的遗传变异频率,基因检测应被视为听力损失检查的常规部分,特别是随着基因疗法的研究和变得更广泛可用。
    BACKGROUND: Hearing loss is a common sensory disorder that impacts patients across the lifespan. Many genetic variants have been identified that contribute to non-syndromic hearing loss. Yet, genetic testing is not routinely administered when hearing loss is diagnosed, particularly in adults. In this study, genetic testing was completed in patients with known hearing loss.
    METHODS: A total of 104 patients who were evaluated for hearing loss were enrolled and received genetic testing.
    RESULTS: Of those 104 patients, 39 had available genetic testing, 20 had one missing allele, and 45 yielded no genetic diagnosis. Of the 39 cases with genetic testing data, 24 were simplex cases, and 15 were multiplex cases. A majority of patients presented with an autosomal recessive inheritance pattern (n = 32), 26 of whom presented with congenital hearing loss. 38% of cases were positive for GJB2 mutation with c.35delG being the most common pathogenic variant. These findings are consistent with previous literature suggesting GJB2 mutations are the most common causes of non-syndromic hearing loss.
    CONCLUSIONS: Given the frequency of genetic variants in patients with hearing loss, genetic testing should be considered a routine part of the hearing loss work-up, particularly as gene therapies are studied and become more widely available.
    BACKGROUND: Many genetic variants have been identified that contribute to non-syndromic hearing loss. Given the frequency of genetic variants in patients with hearing loss, genetic testing should be considered a routine part of the hearing loss work-up.
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