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Current Opinion in Otolaryngology & Head and Neck Surgery最新文献

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Muscle transposition and free muscle transfer in facial nerve reanimation. 面神经再生中的肌肉移位和游离肌肉转移。
IF 1.9 4区 医学 Q2 OTORHINOLARYNGOLOGY Pub Date : 2024-10-01 Epub Date: 2023-10-25 DOI: 10.1097/MOO.0000000000000940
Kia Jones, S Mark Taylor, Ayham Al Afif

Purpose of review: This review highlights recent advances in facial reanimation surgery particularly related to muscle transposition and free functional muscle transfer (FFMT).

Recent findings: FFMT and muscle transposition are mainstays in the treatment of chronic facial paralysis. Recent literature evaluates single versus dual innervated FFMT, reanimation of the periocular region and lower lip depressors, and indications for such methods over gold standard FFMT techniques. New donor sites for muscle transposition and FFMT are also described.

Summary: Gracilis FFMT (GFMT) continues to be the gold standard in dynamic facial reanimation for patients with chronic facial paralysis. Muscle transposition should be considered in older patients, those medically unfit for long operative procedures, and individuals who prefer more immediate results. With respect to FFMT, described nerve coaptation patterns, surgical stages, and donor muscle choice vary. Standardization of data reporting and outcome measures is needed in future studies.

综述的目的:这篇综述强调了面部复活手术的最新进展,特别是与肌肉移位和自由功能性肌肉转移(FFMT)有关的进展。最近的发现:FFMT和肌肉移位是治疗慢性面瘫的支柱。最近的文献评估了单神经支配与双神经支配的FFMT,眼周区域和下唇压药的复活,以及这些方法相对于金标准FFMT技术的适应症。还描述了用于肌肉移位和FFMT的新的供体位点。摘要:Gracilis FFMT(GFMT)仍然是慢性面瘫患者动态面部复活的金标准。对于年龄较大的患者、身体不适合长期手术的患者以及喜欢更直接结果的患者,应考虑肌肉移位。关于FFMT,所描述的神经接合模式、手术阶段和供体肌肉的选择各不相同。在今后的研究中,需要对数据报告和成果衡量标准进行标准化。
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引用次数: 0
Editorial: "auditory and vestibular science: challenges and controversies in pediatric otolaryngology". 社论:"听觉和前庭科学:小儿耳鼻喉科的挑战与争议"。
IF 1.9 4区 医学 Q2 OTORHINOLARYNGOLOGY Pub Date : 2024-10-01 Epub Date: 2024-09-05 DOI: 10.1097/MOO.0000000000000990
Robert S Hong, Alicia M Quesnel
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引用次数: 0
Updates on temporomandibular joint reconstruction following ablative surgery. 消融手术后颞下颌关节重建的最新进展。
IF 1.9 4区 医学 Q2 OTORHINOLARYNGOLOGY Pub Date : 2024-10-01 Epub Date: 2024-07-26 DOI: 10.1097/MOO.0000000000000994
Gregory D Disse, Zahrah Masheeb, Marianne Abouyared

Purpose of review: Considerations regarding reconstruction of the temporomandibular junction (TMJ) following ablation have been underreported in head and neck surgery literature. Here, we discuss the complexity of reconstructing this unique joint and highlight the benefits and drawbacks of free tissue transfer. Additionally, we address the growing role of customized alloplastic implants and virtual surgical planning technologies in TMJ reconstruction.

Recent findings: Technological advances in computerized manufacturing, 3D printing, and virtual reality have led to a recent burgeoning in patient-specific customization that may become the method of choice in these complex reconstruction cases.

Summary: Since trauma and malignancy rarely compromise the entire TMJ, guidelines currently do not exist regarding how to best reconstruct the region in these unique cases. The methods that work in ankylosis and other intrinsic joint diseases are likely less appropriate in this patient population. Recent literature has reported improved patient outcomes and reduced operative times with virtual surgical planning techniques that may optimize autogenous graft approaches.

综述目的:头颈外科文献中对消融术后重建颞下颌关节(TMJ)的相关考虑报道较少。在此,我们讨论了重建这一独特关节的复杂性,并强调了游离组织转移的优点和缺点。此外,我们还讨论了定制化异体植入物和虚拟手术规划技术在颞下颌关节重建中日益重要的作用:摘要:由于外伤和恶性肿瘤很少危及整个颞下颌关节,因此目前还没有关于如何在这些特殊病例中对该区域进行最佳重建的指南。对强直和其他内在关节疾病有效的方法可能不太适合这类患者。最近有文献报道,利用虚拟手术规划技术可以优化自体移植方法,从而改善患者的治疗效果并缩短手术时间。
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引用次数: 0
Update on the pathophysiology, diagnosis and management of Ménière's disease. 梅尼埃病的最新病理生理学、诊断和治疗方法。
IF 1.9 4区 医学 Q2 OTORHINOLARYNGOLOGY Pub Date : 2024-10-01 Epub Date: 2024-07-22 DOI: 10.1097/MOO.0000000000001002
Jose A Lopez-Escamez, Patricia Perez-Carpena

Purpose of review: The aim of this work is to summarize the main advances on the pathophysiology, diagnosis, and treatment of Meniere's disease (MD).

Recent findings: Different immune responses to biotic stimuli may trigger MD, with subgroups identified based on cytokine and genetic profile, suggesting potential benefits from immune therapy, including antiallergic medication. Genetic and epigenetic research, along with imaging studies, reveal the complexity of MD, involving inflammation, immunity, and metabolic processes. Advanced imaging techniques define specific temporal bone features and endolymphatic hydrops, while machine learning models enhance diagnostic accuracy through clinical and laboratory data analysis. Differentiating MD from vestibular migraine remains challenging due to overlapping symptoms, but combining vestibular tests, audiological assessments, and biomarkers like cytokines and chemokines shows promise. Pharmacological treatments such as betahistine or corticosteroids show varying effectiveness and require further research according to immune subgroups. Surgical options like endolymphatic sac decompression, semicircular canal occlusion and labyrinthectomy are restricted to intractable cases.

Summary: Research into MD aims to improve diagnosis and treatment through genetic, immunological, and advanced imaging studies. Current treatments include pharmacological, intratympanic, and surgical interventions, but current research supports a personalized approach based on clinical and molecular re-definition of patient subgroups.

综述的目的:本文旨在总结梅尼埃病(MD)的病理生理学、诊断和治疗方面的主要进展:对生物刺激的不同免疫反应可能引发美尼尔氏病,根据细胞因子和遗传特征确定了亚组,这表明免疫疗法(包括抗过敏药物)可能带来益处。遗传学和表观遗传学研究以及成像研究揭示了 MD 的复杂性,其中涉及炎症、免疫和代谢过程。先进的成像技术确定了特定的颞骨特征和内淋巴水肿,而机器学习模型则通过临床和实验室数据分析提高了诊断的准确性。由于症状重叠,将 MD 与前庭性偏头痛区分开来仍具有挑战性,但将前庭测试、听力评估以及细胞因子和趋化因子等生物标志物结合起来则大有可为。药物治疗(如倍他司汀或皮质类固醇)显示出不同的效果,需要根据免疫亚群进行进一步研究。内淋巴囊减压术、半规管闭塞术和迷走神经切除术等手术治疗方法仅限于难治性病例:MD 的研究旨在通过遗传学、免疫学和先进的成像研究来改进诊断和治疗。目前的治疗方法包括药物、鼓膜内注射和手术干预,但目前的研究支持基于临床和分子重新定义患者亚群的个性化方法。
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引用次数: 0
Cochlear implantation in children with single-sided deafness under the age of 5 years: a review of current literature. 5 岁以下单侧耳聋儿童的人工耳蜗植入:当前文献综述。
IF 1.9 4区 医学 Q2 OTORHINOLARYNGOLOGY Pub Date : 2024-10-01 Epub Date: 2024-07-11 DOI: 10.1097/MOO.0000000000000992
Luke Mammen, Aaron Zlatopolsky, Nathan Tu

Purpose of review: Here we explore the current literature on cochlear implantation of pediatric patients under the age of 5 years with single-sided deafness (SSD).

Recent findings: Single-sided deafness has been noted to cause developmental delays in speech, language, and cognition because of loss of binaural hearing. Currently, cochlear implantation is the only intervention capable of restoring binaural hearing for pediatric patients with SSD. Young children have been shown to have the greatest neuroplasticity of the auditory cortex before 4 years of age. Currently, only children over the age of 5 years are approved by the United States Food and Drug Administration (FDA) to undergo cochlear implantation for SSD. Cochlear implantation for SSD in patients under the age of 5 years has been performed on a limited basis and has been shown to have excellent results.

Summary: Cochlear implantation is a well tolerated and effective treatment for pediatric patients under the age of 5 years with SSD. Receiving cochlear implantation under the age of 5 years is critical for child development as neuroplasticity decreases after this age.

综述目的:在此,我们探讨了有关 5 岁以下单侧耳聋(SSD)儿科患者人工耳蜗植入的最新文献:最近的研究结果:单侧耳聋已被证实会导致言语、语言和认知能力的发育迟缓,原因是双耳听力丧失。目前,人工耳蜗植入术是唯一能够恢复单侧耳聋儿科患者双耳听力的干预措施。事实证明,4 岁前的幼儿听觉皮层的神经可塑性最强。目前,美国食品和药物管理局(FDA)只批准 5 岁以上的儿童接受人工耳蜗植入治疗 SSD。小结:对于 5 岁以下患有 SSD 的儿童患者来说,人工耳蜗植入术是一种耐受性良好且有效的治疗方法。5 岁以下接受人工耳蜗植入对儿童的发育至关重要,因为神经可塑性在这个年龄后会降低。
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引用次数: 0
The case for balloon eustachian tuboplasty in children. 儿童球囊咽鼓管成形术的案例。
IF 1.9 4区 医学 Q2 OTORHINOLARYNGOLOGY Pub Date : 2024-10-01 Epub Date: 2024-07-12 DOI: 10.1097/MOO.0000000000000991
Joonas Toivonen, Dennis Poe

Purpose of review: Balloon dilation of the cartilaginous portion of the Eustachian tube has increasingly gained acceptance among otolaryngologists in the treatment of obstructive Eustachian tube dysfunction. There is however little data on the procedure performed in children. The purpose of this study is to review the recent developments regarding balloon dilation in pediatric patients.

Recent findings: Balloon dilation of the Eustachian tube is safe in pediatric patients. The effects of the procedure are durable during long term follow-up. Diagnosing obstructive dysfunction remains challenging. There is no single test or questionnaire for diagnosing the condition; instead a series of appropriate tests should be used. The pediatric Eustachian tube is very responsive to the effects of balloon dilation. While the treatment is effective, overtreatment can have unwanted results such as patulous symptoms. Reducing the time of dilation should therefore be considered.

Summary: Otolaryngologists performing the procedure should be familiar with the effects of balloon dilation on the pediatric Eustachian tube and consider altering the duration of dilation accordingly. Further studies are needed especially regarding patient selection, optimal age for dilation and balloon parameters for pediatrics (e.g. dimensions, inflation duration, inflation pressure).

综述目的:在治疗阻塞性咽鼓管功能障碍方面,咽鼓管软骨部分的球囊扩张术已被越来越多的耳鼻喉科医生所接受。然而,有关儿童手术的数据却很少。本研究旨在回顾有关儿童患者球囊扩张术的最新进展:最新研究结果:咽鼓管球囊扩张术对儿童患者是安全的。最新研究结果:咽鼓管球囊扩张术对儿童患者是安全的,手术效果在长期随访中是持久的。阻塞性功能障碍的诊断仍具有挑战性。没有一种单一的测试或问卷可用于诊断,而应采用一系列适当的测试。小儿咽鼓管对球囊扩张术的效果非常敏感。虽然治疗有效,但过度治疗可能会导致不必要的结果,如咽鼓管症状。小结:实施该手术的耳鼻喉科医生应熟悉球囊扩张术对小儿咽鼓管的影响,并考虑相应地改变扩张时间。还需要进一步研究,特别是关于患者选择、扩张的最佳年龄和儿科球囊参数(如尺寸、充气时间、充气压力)的研究。
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引用次数: 0
Exoscope-assisted surgery in otology and neurotology. 耳科和神经科的外窥镜辅助手术。
IF 1.9 4区 医学 Q2 OTORHINOLARYNGOLOGY Pub Date : 2024-10-01 Epub Date: 2024-07-24 DOI: 10.1097/MOO.0000000000001000
Matteo Di Bari, Giovanni Colombo

Purpose of review: This review addresses the pressing need for an updated understanding of high-definition 3D exoscope role in contemporary otologic and neurotologic practice. With technological advancements driving innovations in surgical visualization, it is crucial to evaluate the efficacy of exoscope-assisted surgery compared to traditional microscopic approaches. By synthesizing recent literature, this review offers insights into the current state of exoscopic ear and lateral skull base surgery and its implications for clinical practice and research.

Recent findings: Recent literature has focused on several key themes. Firstly, studies have demonstrated the feasibility and safety of exoscopic approaches for various otologic and neurotologic procedures. Secondly, comparative studies have highlighted similar outcomes with exoscopic techniques compared to conventional microscopic surgery, particularly in terms of operative time and complication rates. Thirdly, the exoscope can be a valuable tool for the education and training of surgeons.

Summary: The findings from recent literature underscore the growing significance of exoscope-assisted surgery in otology and lateral skull base practice. However, challenges such as high magnification image quality and learning curve must be addressed to optimize its widespread adoption. Overall, this review highlights the importance of continued research and innovation in this rapidly evolving field.

综述的目的:这篇综述探讨了对高清三维外窥镜在当代耳科和神经科实践中作用的最新认识的迫切需要。随着技术的进步推动了手术可视化的创新,与传统的显微镜方法相比,评估外窥镜辅助手术的疗效至关重要。通过综合最新文献,本综述深入探讨了耳外镜和侧颅底手术的现状及其对临床实践和研究的影响:最近的文献主要集中在几个关键主题上。首先,研究证明了外镜方法用于各种耳科和神经科手术的可行性和安全性。其次,比较研究强调了外窥镜技术与传统显微手术相比具有相似的效果,尤其是在手术时间和并发症发生率方面。小结:近期文献的研究结果表明,外窥镜辅助手术在耳科和侧颅底手术中的重要性与日俱增。然而,要优化其广泛应用,必须解决高倍率图像质量和学习曲线等挑战。总之,本综述强调了在这一快速发展的领域继续研究和创新的重要性。
{"title":"Exoscope-assisted surgery in otology and neurotology.","authors":"Matteo Di Bari, Giovanni Colombo","doi":"10.1097/MOO.0000000000001000","DOIUrl":"10.1097/MOO.0000000000001000","url":null,"abstract":"<p><strong>Purpose of review: </strong>This review addresses the pressing need for an updated understanding of high-definition 3D exoscope role in contemporary otologic and neurotologic practice. With technological advancements driving innovations in surgical visualization, it is crucial to evaluate the efficacy of exoscope-assisted surgery compared to traditional microscopic approaches. By synthesizing recent literature, this review offers insights into the current state of exoscopic ear and lateral skull base surgery and its implications for clinical practice and research.</p><p><strong>Recent findings: </strong>Recent literature has focused on several key themes. Firstly, studies have demonstrated the feasibility and safety of exoscopic approaches for various otologic and neurotologic procedures. Secondly, comparative studies have highlighted similar outcomes with exoscopic techniques compared to conventional microscopic surgery, particularly in terms of operative time and complication rates. Thirdly, the exoscope can be a valuable tool for the education and training of surgeons.</p><p><strong>Summary: </strong>The findings from recent literature underscore the growing significance of exoscope-assisted surgery in otology and lateral skull base practice. However, challenges such as high magnification image quality and learning curve must be addressed to optimize its widespread adoption. Overall, this review highlights the importance of continued research and innovation in this rapidly evolving field.</p>","PeriodicalId":55195,"journal":{"name":"Current Opinion in Otolaryngology & Head and Neck Surgery","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141989600","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Electrical stimulation of the vestibular nerve: evaluating effects and potential starting points for optimization in vestibular implants. 前庭神经电刺激:评估效果和优化前庭植入物的潜在起点。
IF 1.9 4区 医学 Q2 OTORHINOLARYNGOLOGY Pub Date : 2024-10-01 Epub Date: 2024-08-29 DOI: 10.1097/MOO.0000000000001001
Marieke Ten Hoor, Raymond van de Berg, Angélica Pérez Fornos, Joost Johannes Antonius Stultiens

Purpose of review: Oscillopsia and unsteadiness are common and highly debilitating symptoms in individuals with bilateral vestibulopathy. A lack of adequate treatment options encouraged the investigation of vestibular implants, which aim to restore vestibular function with motion-modulated electrical stimulation. This review aims to outline the ocular and postural responses that can be evoked with electrical prosthetic stimulation of the semicircular canals and discuss potential approaches to further optimize evoked responses. Particular focus is given to the stimulation paradigm.

Recent findings: Feasibility studies in animals paved the way for vestibular implantation in human patients with bilateral vestibulopathy. Recent human trials demonstrated prosthetic electrical stimulation to partially restore vestibular reflexes, enhance dynamic visual acuity, and generate controlled postural responses. To further optimize prosthetic performance, studies predominantly targeted eye responses elicited by the vestibulo-ocular reflex, aiming to minimize misalignments and asymmetries while maximizing the response. Changes of stimulation parameters are shown to hold promise to increase prosthetic efficacy, together with surgical refinements and neuroplastic effects.

Summary: Optimization of the stimulation paradigm, in combination with a more precise electrode placement, holds great potential to enhance the clinical benefit of vestibular implants.

综述的目的:震荡和不稳定性是双侧前庭病变患者常见的症状,也是极易使人衰弱的症状。由于缺乏适当的治疗方案,人们开始研究前庭植入物,旨在通过运动调节电刺激恢复前庭功能。本综述旨在概述半规管假体电刺激可诱发的眼部和姿势反应,并讨论进一步优化诱发反应的潜在方法。最近的研究结果特别关注刺激范例:在动物身上进行的可行性研究为在患有双侧前庭神经病的人类患者身上进行前庭植入铺平了道路。最近的人体试验表明,假体电刺激可部分恢复前庭反射,提高动态视敏度,并产生可控的姿势反应。为了进一步优化假体性能,研究主要针对前庭-眼反射引起的眼部反应,目的是尽量减少错位和不对称,同时最大限度地提高反应。小结:刺激范式的优化与更精确的电极放置相结合,有望提高前庭植入物的临床疗效。
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引用次数: 0
Evaluation and diagnosis of pediatric patients with dizziness. 评估和诊断患有头晕的儿科患者。
IF 1.9 4区 医学 Q2 OTORHINOLARYNGOLOGY Pub Date : 2024-10-01 Epub Date: 2024-08-09 DOI: 10.1097/MOO.0000000000000997
Karl W Doerfer, Erin Harvey, Samantha LaPrade

Purpose of review: Children experiencing dizziness frequently go unevaluated or experience delays in correct diagnosis due to systemic and inherent barriers. While most causes of pediatric dizziness do not involve the peripheral vestibular system, otolaryngologists are frequently consulted for expert opinion. This study offers a broad overview of the leading causes of pediatric dizziness and imbalance to assist otolaryngologists with evaluating and managing this challenging population.

Recent findings: Evaluation of children with dizziness should exclude serious central nervous system conditions. Approximately 70% of nonhazardous cases of pediatric dizziness are caused by migraine-related conditions, concussion, or functional disorders. Etiologies for peripheral vestibular dysfunction include inner ear malformations and vestibular disorders more commonly seen in adults. Audiometric and vestibular testing can provide helpful information, although correct diagnosis depends on a detailed history.

Summary: Otolaryngologists should be familiar with the conditions that cause dizziness in children. While most underlying causes are outside their scope of practice, understanding possible etiologies can facilitate correct diagnosis and appropriate management.

审查目的:由于系统性和固有的障碍,出现头晕的儿童经常得不到正确的诊断或延误诊断。虽然导致小儿头晕的大多数原因并不涉及外周前庭系统,但耳鼻喉科医生经常会被咨询以获得专家意见。本研究概述了导致小儿头晕和失衡的主要原因,以帮助耳鼻喉科医生评估和管理这一具有挑战性的人群:对头晕儿童的评估应排除严重的中枢神经系统疾病。大约 70% 的非危险性小儿头晕病例是由偏头痛相关疾病、脑震荡或功能性障碍引起的。外周前庭功能障碍的病因包括内耳畸形和成人常见的前庭疾病。听力测试和前庭测试可以提供有用的信息,但正确的诊断取决于详细的病史。虽然大多数潜在病因不属于耳鼻喉科医生的诊疗范围,但了解可能的病因有助于正确诊断和适当治疗。
{"title":"Evaluation and diagnosis of pediatric patients with dizziness.","authors":"Karl W Doerfer, Erin Harvey, Samantha LaPrade","doi":"10.1097/MOO.0000000000000997","DOIUrl":"10.1097/MOO.0000000000000997","url":null,"abstract":"<p><strong>Purpose of review: </strong>Children experiencing dizziness frequently go unevaluated or experience delays in correct diagnosis due to systemic and inherent barriers. While most causes of pediatric dizziness do not involve the peripheral vestibular system, otolaryngologists are frequently consulted for expert opinion. This study offers a broad overview of the leading causes of pediatric dizziness and imbalance to assist otolaryngologists with evaluating and managing this challenging population.</p><p><strong>Recent findings: </strong>Evaluation of children with dizziness should exclude serious central nervous system conditions. Approximately 70% of nonhazardous cases of pediatric dizziness are caused by migraine-related conditions, concussion, or functional disorders. Etiologies for peripheral vestibular dysfunction include inner ear malformations and vestibular disorders more commonly seen in adults. Audiometric and vestibular testing can provide helpful information, although correct diagnosis depends on a detailed history.</p><p><strong>Summary: </strong>Otolaryngologists should be familiar with the conditions that cause dizziness in children. While most underlying causes are outside their scope of practice, understanding possible etiologies can facilitate correct diagnosis and appropriate management.</p>","PeriodicalId":55195,"journal":{"name":"Current Opinion in Otolaryngology & Head and Neck Surgery","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141989599","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Genetic testing for pediatric sensorineural hearing loss in the era of gene therapy. 基因治疗时代的小儿感音神经性听力损失基因检测。
IF 1.9 4区 医学 Q2 OTORHINOLARYNGOLOGY Pub Date : 2024-10-01 Epub Date: 2024-08-06 DOI: 10.1097/MOO.0000000000001005
A Eliot Shearer

Purpose of review: To summarize indications, methods, and diagnostic yields for genetic testing for pediatric hearing loss.

Recent findings: Genetic testing has become a cornerstone of clinical care for children with sensorineural hearing loss. Recent studies have shown the efficacy of gene panels and exome sequencing for any child with sensorineural hearing loss. Recent findings have underscored the importance of a diagnosis in clinical care. Clinical trials for gene therapy for hearing loss have begun.

Summary: Genetic testing has become critical for personalized care for children with hearing loss. Recent studies have shown a 43% overall diagnostic yield for genetic testing for pediatric hearing loss, though the diagnostic yield may range from 10 to 60% depending on clinical features. Syndromic diagnoses comprise 25% of positive genetic tests for pediatric sensorineural hearing loss. While diagnostic yield is lower for children with unilateral or asymmetric sensorineural hearing loss, the likelihood of syndromic hearing loss finding is higher. An early and accurate genetic diagnosis is required for participating in clinical trials for gene therapy for hearing loss.

综述目的:总结小儿听力损失基因检测的适应症、方法和诊断结果:基因检测已成为感音神经性听力损失患儿临床治疗的基石。最近的研究表明,对任何感音神经性听力损失患儿进行基因检测和外显子组测序都很有效。最新研究结果强调了诊断在临床治疗中的重要性。听力损失基因治疗的临床试验已经开始。摘要:基因检测已成为听力损失儿童个性化治疗的关键。最近的研究表明,小儿听力损失基因检测的总体诊断率为 43%,但根据临床特征,诊断率可能在 10% 至 60% 之间。综合征诊断占小儿感音神经性听力损失基因检测阳性率的 25%。虽然单侧或不对称感音神经性听力损失患儿的诊断率较低,但综合征听力损失发现的可能性较高。要参加听力损失基因治疗的临床试验,必须及早进行准确的基因诊断。
{"title":"Genetic testing for pediatric sensorineural hearing loss in the era of gene therapy.","authors":"A Eliot Shearer","doi":"10.1097/MOO.0000000000001005","DOIUrl":"10.1097/MOO.0000000000001005","url":null,"abstract":"<p><strong>Purpose of review: </strong>To summarize indications, methods, and diagnostic yields for genetic testing for pediatric hearing loss.</p><p><strong>Recent findings: </strong>Genetic testing has become a cornerstone of clinical care for children with sensorineural hearing loss. Recent studies have shown the efficacy of gene panels and exome sequencing for any child with sensorineural hearing loss. Recent findings have underscored the importance of a diagnosis in clinical care. Clinical trials for gene therapy for hearing loss have begun.</p><p><strong>Summary: </strong>Genetic testing has become critical for personalized care for children with hearing loss. Recent studies have shown a 43% overall diagnostic yield for genetic testing for pediatric hearing loss, though the diagnostic yield may range from 10 to 60% depending on clinical features. Syndromic diagnoses comprise 25% of positive genetic tests for pediatric sensorineural hearing loss. While diagnostic yield is lower for children with unilateral or asymmetric sensorineural hearing loss, the likelihood of syndromic hearing loss finding is higher. An early and accurate genetic diagnosis is required for participating in clinical trials for gene therapy for hearing loss.</p>","PeriodicalId":55195,"journal":{"name":"Current Opinion in Otolaryngology & Head and Neck Surgery","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141989601","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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Current Opinion in Otolaryngology & Head and Neck Surgery
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