International journal of pediatric otorhinolaryngology最新文献

英文中文

Characterizing the spectrum and clinical impact of GJB2 mutations in patients with hearing loss: Insights into genetic variability and phenotypic outcomes 表征听力损失患者GJB2突变的频谱和临床影响：对遗传变异性和表型结果的见解

IF 1.3 4区医学 Q3 OTORHINOLARYNGOLOGY

International journal of pediatric otorhinolaryngology

Pub Date : 2025-11-04 DOI: 10.1016/j.ijporl.2025.112634

Elaheh Akhbari , Rahil Salehi , Majid Tafrihi , Reza Jafarzadeh Esfehani

Objective

This study analyzed GJB2 (connexin 26) mutations and their association with hearing loss severity in Iranian nonsyndromic hearing loss (NSHL) patients, addressing a prevalent genetic cause of hearing impairment worldwide.

Methods

This research was conducted on a cohort of individuals referred for genetic counseling for hearing loss, as well as asymptomatic individuals with a family history of NSHL. Participants were included based on confirmed diagnoses of hearing impairment without syndromic features or environmental causes. Every individual was analyzed for GJB2 mutations using sanger sequencing method. Hearing impairment was classified into four categories—mild, moderate, severe, and profound—based on pure-tone audiometry.

Results

In a cohort of 282 participants, the c.35delG mutation was the most frequent variant, present in 54.5 % of individuals with hearing impairment. This mutation was found in 12 homozygous cases, 6 heterozygotes, and 1 compound heterozygote, with a strong association with profound hearing impairment (p < 0.01). The c.487A > G variant was the second most common, identified in 14 patients and significantly correlated with severe-to-profound hearing loss (p < 0.05). Less frequent variants, including c.71G > A, c.88A > G, and c.193T > A, exhibited diverse clinical presentations, ranging from mild to profound impairment. Two compound heterozygous cases also highlighted the combined effects of multiple mutations, with both cases presenting with profound hearing loss.

Conclusion

This study underscores the significant role of GJB2 mutations, particularly c.35delG and c.487A > G, in NSHL and their strong correlation with severe-to-profound hearing impairment in northeastern Iran. The findings highlight the need for region-specific screening programs to identify high-risk variants, guide genetic counseling, and enable early intervention. Moreover, comprehensive GJB2 sequencing within broader hearing loss gene panels is recommended to capture heterogeneous variants.

目的分析伊朗非综合征性听力损失（NSHL）患者GJB2（连接蛋白26）突变及其与听力损失严重程度的关系，探讨全球范围内普遍存在的听力障碍遗传原因。方法本研究选取了一组因听力损失而进行遗传咨询的个体，以及有NSHL家族史的无症状个体。参与者被纳入是基于没有综合征特征或环境原因的听力障碍确诊。采用sanger测序法对每个个体进行GJB2突变分析。根据纯音听力学将听力障碍分为轻度、中度、重度和深度四类。结果在282名参与者的队列中，c.35delG突变是最常见的变体，存在于54.5%的听力障碍个体中。该突变在12例纯合子、6例杂合子和1例复合杂合子中发现，与重度听力障碍有很强的相关性（p < 0.01）。c.487A >； G变异是第二常见的，在14例患者中发现，与重度至重度听力损失显著相关（p < 0.05）。不常见的变异包括c.71G > A、c.88A >； G和c.193T >； A，表现出不同的临床表现，从轻度到重度损害不等。两例复合杂合病例也突出了多重突变的综合影响，两例均表现为严重的听力损失。结论本研究强调了GJB2突变，特别是c.35delG和c.487A >； G在NSHL中的重要作用，以及它们与伊朗东北部重度至重度听力障碍的强相关性。研究结果强调需要针对特定地区的筛查项目来识别高风险变异，指导遗传咨询，并使早期干预成为可能。此外，建议在更广泛的听力损失基因面板中进行全面的GJB2测序，以捕获异质变异。

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引用次数: 0

Pediatric laryngeal trauma: An epidemiological study using the National Trauma Data Bank 儿童喉部创伤：使用国家创伤数据库的流行病学研究

IF 1.3 4区医学 Q3 OTORHINOLARYNGOLOGY

International journal of pediatric otorhinolaryngology

Pub Date : 2025-11-04 DOI: 10.1016/j.ijporl.2025.112618

William Moss , Apthi Muralidhar , Mia Girela , Karthik Rajasekaran , Alvaro Moreira

引用次数: 0

Pediatric idiopathic tracheal stenosis – A scoping review of the literature and case series of an unclassified pathology 儿童特发性气管狭窄-一个未分类病理的文献和病例系列的范围审查。

IF 1.3 4区医学 Q3 OTORHINOLARYNGOLOGY

International journal of pediatric otorhinolaryngology

Pub Date : 2025-11-01 DOI: 10.1016/j.ijporl.2025.112617

Daniel G. Eyassu , Natasha S. Lee , Hawa M. Ali , Cody L. Messick , Katerina J. Green , Joshua P. Wiedermann

Introduction

Pediatric tracheal stenosis is commonly caused by congenital or iatrogenic etiologies. This study introduces pediatric idiopathic tracheal stenosis (PITS) to refer to a cohort of pediatric patients with idiopathic multilevel large airway stenosis. This study proposes a novel treatment strategy trialed in four patients and reviews the literature for similar disease patterns.

Methods

A literature search was conducted including studies of patients under 18-years-old with tracheal stenosis of unknown etiology, yielding 6 included studies. We contribute four patients treated with CO2 laser wedge excision of tracheal scar, mitomycin C application, and triamcinolone injection followed by postoperative triple therapy with omeprazole, trimethoprim-sulfamethoxazole and inhaled fluticasone.

Results

A review of literature found seven similar cases, with high recurrence rates and no consensus on management strategies. In our case series, four pediatric patients (ages 9–14) with refractory idiopathic tracheal stenosis presented with chronic respiratory symptoms. All patients had multilevel spiral tracheal scarring with involvement of the carina and eosinophils in mucosal biopsies. Work-ups for infectious, immune, or genetic causes were uniformly negative. Initial treatments, including medical therapy and balloon dilations, failed. Definitive management with our proposed regimen led to sustained symptom remission in all cases (6 months–2.75 years).

Conclusions

PITS is sparsely described in the literature with no existing treatment consensus. We propose a novel treatment regimen that demonstrated remission of disease in this limited case series. The exploration of treatment regimens is a priority in furthering the outcomes for pediatric patients with this unique and rare airway disease.

儿童气管狭窄通常由先天性或医源性病因引起。本研究引入儿童特发性气管狭窄（PITS），指的是一组特发性多节段大气道狭窄的儿童患者。本研究提出了一种新的治疗策略，在四名患者中进行了试验，并回顾了类似疾病模式的文献。方法：检索文献，纳入病因不明的18岁以下气管狭窄患者的研究，共纳入6项研究。4例患者采用CO2激光楔形切除气管瘢痕，应用丝裂霉素C，注射曲安奈德，术后给予奥美拉唑、甲氧苄氨嘧啶-磺胺甲恶唑和吸入氟替卡松三联治疗。结果：回顾文献发现7例类似病例，复发率高，治疗策略尚无共识。在我们的病例系列中，4例难治性特发性气管狭窄的儿童患者（9-14岁）表现为慢性呼吸道症状。所有患者在粘膜活检中均有累及隆突和嗜酸性粒细胞的多级螺旋气管瘢痕。感染、免疫或遗传原因的检查结果均为阴性。最初的治疗，包括药物治疗和球囊扩张，都失败了。我们建议的方案最终治疗导致所有病例持续症状缓解（6个月-2.75年）。结论：文献中对pit的描述很少，没有现有的治疗共识。我们提出一种新的治疗方案，在这个有限的病例系列中证明了疾病的缓解。治疗方案的探索是促进这种独特而罕见的气道疾病患儿预后的优先事项。

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引用次数: 0

Corrigendum to “Comprehensive staging system for nasopharyngeal angiofibroma: Integrating anatomical and functional parameters” [Int. J. Pediatr. Otorhinolaryngol. 197 (2025) 112524] “鼻咽血管纤维瘤的综合分期系统：整合解剖学和功能参数”的勘误[j]。j . Pediatr。耳鼻咽喉。197 (2025)112524 [j]

IF 1.3 4区医学 Q3 OTORHINOLARYNGOLOGY

International journal of pediatric otorhinolaryngology

Pub Date : 2025-11-01 DOI: 10.1016/j.ijporl.2025.112562

Anupam Mishra , Subhash Chandra Mishra

引用次数: 0

Corrigendum to “Diagnostic role of Galectin-3 with routine blood parameters in PFAPA syndrome: prospective cohort study” [Int. J. Pediatric Otorhinolaryngol. 196 (2025) 112478] 《半乳糖凝集素-3与血常规参数在PFAPA综合征中的诊断作用：前瞻性队列研究》的勘误表[j]。[j].中华耳鼻咽喉杂志，2016(5):387 - 398。

IF 1.3 4区医学 Q3 OTORHINOLARYNGOLOGY

International journal of pediatric otorhinolaryngology

Pub Date : 2025-11-01 DOI: 10.1016/j.ijporl.2025.112561

SanemBurc Dagli , Murat Gumussoy , Ali Kanik , Murat Akst , İbrahim Cukurova

引用次数: 0

Does watching cartoons reduce anxiety in children undergoing cerumen aspiration? A randomized controlled study 看动画片是否能减少接受耵聍抽吸的儿童的焦虑？一项随机对照研究。

IF 1.3 4区医学 Q3 OTORHINOLARYNGOLOGY

International journal of pediatric otorhinolaryngology

Pub Date : 2025-11-01 DOI: 10.1016/j.ijporl.2025.112604

Nurdoğan Ata , Esra Yılmaz

Objective

This study aimed to evaluate whether watching age-appropriate cartoons during cerumen aspiration reduces anxiety and pain levels in pediatric patients.

Methods

A prospective randomized controlled study was conducted between December 2024 and July 2025, including 77 children (aged 4–10 years) undergoing cerumen aspiration. Patients were randomized into two groups: Group 1 received verbal explanation and efforts to establish trust before the procedure; Group 2 received the same preparation, followed by cerumen aspiration while watching an age-appropriate cartoon on a tablet. Anxiety was assessed using the Animated Emoji Faces Scale, and pain was measured with the Face, Legs, Activity, Cry, Consolability (FLACC) scale. Statistical analyses were performed using independent-sample t-tests in SPSS v24, with p < 0.05 considered significant.

Results

Of the 77 participants, 33 were in the cartoon group and 44 in the control group. The mean age was 7.09 years in the cartoon group and 6.68 years in the control group. Mean FLACC scores were 2.55 in the cartoon group and 3.43 in the control group (p = 0.189). Mean Emoji scores were 2.52 and 2.70, respectively (p = 0.514).

Conclusion

Watching cartoons during cerumen aspiration did not significantly reduce anxiety or pain levels in children, although a slight trend toward lower scores was observed in the video group. Larger-scale studies may help clarify the potential role of distraction techniques in reducing procedural anxiety in pediatric otolaryngology.

目的：本研究旨在评估在耳垢抽吸过程中观看与年龄相适应的动画片是否能减少儿科患者的焦虑和疼痛水平。方法：于2024年12月至2025年7月进行前瞻性随机对照研究，纳入77例（4-10岁）接受耵聍抽吸的儿童。患者被随机分为两组：第一组在手术前接受口头解释并努力建立信任；第二组接受同样的准备，然后在观看平板电脑上适合年龄的卡通片的同时进行耵聍抽吸。焦虑用表情表情量表来评估，疼痛用面部、腿部、活动、哭泣、安慰（FLACC）量表来衡量。统计学分析采用SPSS v24软件进行独立样本t检验，p值为p。结果：77名受试者中，卡通组33名，对照组44名。动画片组的平均年龄为7.09岁，对照组为6.68岁。动画片组FLACC平均评分为2.55分，对照组为3.43分（p = 0.189）。Emoji的平均得分分别为2.52和2.70 （p = 0.514）。结论：在耵聍抽吸过程中观看动画片并没有显著降低儿童的焦虑或疼痛水平，尽管在视频组中观察到轻微的低得分趋势。更大规模的研究可能有助于阐明分心技术在减少小儿耳鼻喉科手术焦虑中的潜在作用。

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引用次数: 0

History of pediatric otolaryngology in North America 北美儿童耳鼻喉科的历史。

IF 1.3 4区医学 Q3 OTORHINOLARYNGOLOGY

International journal of pediatric otorhinolaryngology

Pub Date : 2025-11-01 DOI: 10.1016/j.ijporl.2025.112569

Kenny H. Chan

Pediatric otolaryngology in North America as a subspecialty has undergone many phases of metamorphosis. The roots of the subspecialty can be traced from the days of endoscopists of the late 1800s to today's pediatric subspecialists; many practice in tertiary children's hospitals with many focus on a particular set of diseases and anatomic regions. In the U.S., postgraduate medical education of the subspecialty has been formalized and strengthened through fellowship accreditation over two decades ago, and subspecialty medical board recognition has been established through a rigorous journey of sub-certification. While several publications on the history of the subspecialty concentrated on a particular developmental phase or time-period have been published, none had attempted to unfold its convoluted story from embryogenesis to adulthood. Furthermore, the counterpart history of the subspecialty in Canada and Mexico has not been told juxtaposed to the neighbor that separates them geographically.

儿童耳鼻喉科在北美作为一个亚专科经历了许多阶段的蜕变。亚专科的起源可以追溯到19世纪晚期的内窥镜医生到今天的儿科亚专科医生；许多人在三级儿童医院实习，许多人专注于一组特定的疾病和解剖区域。在美国，亚专业的研究生医学教育在二十多年前通过奖学金认证已经正式确立和加强，亚专业医学委员会的认可已经通过严格的子认证过程建立起来。虽然一些关于亚专业历史的出版物集中在一个特定的发育阶段或时期已经出版，但没有人试图展开其从胚胎发生到成年的复杂故事。此外，加拿大和墨西哥的亚专业的对应历史并没有被告知与地理上分开它们的邻居并列。

引用次数: 0

Diagnostic utility of temporal MRI and CT in pediatric patients according to presenting symptoms 颞叶MRI和CT在儿科患者诊断中的应用

IF 1.3 4区医学 Q3 OTORHINOLARYNGOLOGY

International journal of pediatric otorhinolaryngology

Pub Date : 2025-11-01 DOI: 10.1016/j.ijporl.2025.112630

Betul Akdal Dolek , Ozge Dedeoglu , Halil Tekdemir , Merter Keceli

引用次数: 0

The relationship between intraoperative and postoperative Neural Response Thresholds (NRT) and postoperative auditory perception and speech intelligibility in cochlear implanted patients 人工耳蜗植入患者术中、术后神经反应阈值（NRT）与术后听觉和言语清晰度的关系

IF 1.3 4区医学 Q3 OTORHINOLARYNGOLOGY

International journal of pediatric otorhinolaryngology

Pub Date : 2025-11-01 DOI: 10.1016/j.ijporl.2025.112612

Reza Jahangiri , Pardis Abtahian , Seyed Basir Hashemi , Leila Monshizadeh , Kazem zarei , Fatemeh Farhadipour

Background

One of the important factors in evaluating the effectiveness of cochlear implants in children is the level of neural response thresholds (NRT).

This study aims to assess and compare intraoperative and postoperative NRT concerning their ability to predict postoperative speech perception in cochlear implant patients.

Methods

In this observational study, two groups of cochlear implant recipients who underwent surgery between April 2011–March 2022 and met the inclusion criteria were selected using purposive sampling. Intra- and postoperative neural response telemetry (NRT) data were collected, along with postoperative outcomes from the Categories of Auditory Performance (CAP) and Speech Intelligibility Rating (SIR) questionnaires, administered at six and nine months after implantation. One group consisted of patients with negative intraoperative NRT, while the other included patients with positive intraoperative NRT. Comparisons between groups were performed, data were analyzed using the Statistical Package for the Social Sciences (SPSS Inc., Chicago, Illinois, USA) version 22.0.

Results

There was a significant improvement in NRT values following surgery. Additionally, intra- and postoperative thresholds showed a significant correlation. Both CAP and SIR scores also improved significantly during follow-up. Postoperative NRT significantly correlated with CAP and SIR scores after six and nine months, whereas intraoperative NRT did not demonstrate this correlation. Nonetheless, the feasibility of measuring intraoperative NRT significantly indicated better future speech perception.

Discussion

Postoperative NRT may serve as an indicator of the trajectory of auditory functioning in CI patients. However, there remains uncertainty regarding the correlation between intraoperative NRT and outcomes. It sems that the inability to measure intraoperative NRT is associated with poorer speech perception outcomes.

背景：评价儿童人工耳蜗植入效果的重要因素之一是神经反应阈值（NRT）水平。本研究旨在评估和比较术中和术后NRT对人工耳蜗患者术后语言感知的预测能力。方法：本观察性研究采用目的抽样方法，选取2011年4月至2022年3月期间接受人工耳蜗手术且符合纳入标准的两组人工耳蜗受者。在植入后6个月和9个月，收集术中和术后神经反应遥测（NRT）数据，以及术后听觉表现类别（CAP）和言语清晰度评级（SIR）问卷的结果。一组为术中NRT阴性患者，另一组为术中NRT阳性患者。进行组间比较，使用社会科学统计软件包（SPSS Inc., Chicago, Illinois， USA） 22.0版对数据进行分析。结果：术后NRT值有明显改善。此外，术中阈值和术后阈值显示出显著的相关性。随访期间CAP和SIR评分均有显著提高。术后NRT与6个月和9个月后的CAP和SIR评分显著相关，而术中NRT没有表现出这种相关性。尽管如此，术中测量NRT的可行性显著预示着未来更好的语音感知。讨论：术后NRT可作为CI患者听觉功能轨迹的指标。然而，术中NRT与预后之间的相关性仍然存在不确定性。术中无法测量NRT似乎与较差的言语感知结果有关。

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引用次数: 0

Corrigendum to “Auditory and language development in children with cochlear implants: A retrospective longitudinal study” [Int J Pediatr Otorhinolaryngol (198), November 2025, 112601] “人工耳蜗植入后儿童听觉和语言发育的回顾性纵向研究”[J].儿科学，1997,11(11):112601。

IF 1.3 4区医学 Q3 OTORHINOLARYNGOLOGY

International journal of pediatric otorhinolaryngology

Pub Date : 2025-11-01 DOI: 10.1016/j.ijporl.2025.112615

Merve İkiz Bozsoy , Esra Yücel

Objectives

This study aimed to evaluate and compare the auditory and language development in children with unilateral cochlear implants (UnCIs), sequential bilateral cochlear implants (SeqBiCIs), and simulatenous bilateral cochlear implants (SimBiCIs).

Methods

This retrospective longitudinal study included 28 children: 9 with UnCIs, 11 with SeqBiCIs, and 8 with SimBiCIs. Auditory and language development were assessed using the Meaningful Auditory Integration Scale (MAIS) and the Test of Early Language Development–Third Edition (TELD-3), respectively. MAIS scores were collected at three time points: preoperatively (pre-op), and at two postoperative followups (post-op₁ and post-op₂). TELD-3 scores were obtained at two postoperative time points, corresponding to post-op1 and post-op2 assessments.

Results

The MAIS score comparisons showed no significant differences between the UnCIs, SeqBiCIs, and SimBiCI groups in the pre-op evaluation (p = 0.22). At post-op₁, significant differences observed (p = 0.004), with SeqBiCIs outperforming UnCIs (p = 0.004). At post-op₂, MAIS scores differed significantly (p = 0.001), with bilateral groups scoring higher than UnCIs (SeqBiCIs vs. UnCIs, p = 0.006; SimBiCIs vs. UnCIs, p = 0.001). TELD-3 receptive language scores did not differ at post-op₁ (p = 0.13), but were significantly higher in SimBiCIs than SeqBiCIs (p = 0.002) and UnCIs (p = 0.011) at post-op₂. Expressive language scores showed no group differences at post-op₁ (p = 0.19), but were significantly higher in SimBiCIs compared to SeqBiCIs (p = 0.013) and UnCIs (p = 0.002) at post-op₂. Mixed ANOVA analyses indicated that the fastest auditory and language development in SimBiCIs, followed by SeqBiCIs, with UnCIs showing the slowest progress.

Conclusion

Bilateral cochlear implantation, particularly when performed simultaneously, yields superior outcomes in auditory and language development compared to unilateral implantation.

目的：本研究旨在评估和比较单侧人工耳蜗（UnCIs）、顺序双侧人工耳蜗（SeqBiCIs）和同步双侧人工耳蜗（SimBiCIs）患儿的听觉和语言发育。方法：本回顾性纵向研究纳入28例儿童：9例unci， 11例SeqBiCIs， 8例SimBiCIs。听力和语言发展分别采用有意义听觉整合量表（MAIS）和早期语言发展测试-第三版（TELD-3）。在三个时间点收集MAIS评分：术前（术前）和术后两次随访（术后1期和术后2期）。在术后两个时间点获得TELD-3评分，对应于op1和op2后的评估。结果：unci组、seqbici组和SimBiCI组的MAIS评分比较，术前评价差异无统计学意义（p = 0.22）。在op1后，观察到显著差异（p = 0.004）， SeqBiCIs优于unci （p = 0.004）。术后，MAIS评分差异显著（p = 0.001），双侧组评分高于unci组（SeqBiCIs vs. unci, p = 0.006; SimBiCIs vs. unci, p = 0.001）。在op1后，TELD-3接受性语言评分没有差异（p = 0.13），但在op2后，SimBiCIs明显高于SeqBiCIs （p = 0.002）和unci （p = 0.011）。表达语言评分在op1后没有组间差异（p = 0.19），但在op2后simbici中显著高于seqbici （p = 0.013）和unci （p = 0.002）。混合方差分析表明，simbici的听觉和语言发展最快，其次是seqbici， unci的发展最慢。结论：与单侧人工耳蜗植入相比，双侧人工耳蜗植入，尤其是同时进行人工耳蜗植入，在听觉和语言发育方面的效果更好。

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