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An innovative CRISPR/Cas9 mouse model of human isolated microtia indicates the potential contribution of CNVs near HMX1 gene
IF 1.2 4区 医学 Q3 OTORHINOLARYNGOLOGY Pub Date : 2024-12-01 DOI: 10.1016/j.ijporl.2024.112141
Wenshan Xing , Jiao Zhang , Tun Liu , Yue Wang , Jin Qian , Bingqing Wang , Yongbiao Zhang ([email protected]) , Qingguo Zhang
<div><h3>Background</h3><div>Microtia is a prevalent congenital malformation, the precise etiology and pathogenesis of which remain elusive. Mutations in the non-coding region of the <em>HMX1</em> gene have been implicated in isolated cases of microtia, emerging as a significant focus of contemporary research. Several pathogenic copy number variations (CNVs) proximal to the <em>HMX1</em> gene have been documented in wild animal populations, whereas only a single large segmental duplication in this region has been identified in humans. However, the absence of a gene-edited animal model has impeded the investigation of the unclear gene function associated with <em>HMX1</em> mutations in human isolated microtia. In this study, we sought to precisely identify the pathogenic mutation by analyzing three pedigrees alongside population controls. Subsequently, our objective was to develop a CRISPR/Cas9 gene-edited mouse model to elucidate the functional implications of the identified mutation.</div></div><div><h3>Methods</h3><div>Genomic DNA was collected from 32 affected individuals across three pedigrees, as well as from 2000 control subjects. Comprehensive genomic analyses, including genome-wide linkage analysis, targeted capture, second-generation sequencing, and copy number analysis, were conducted to identify potential mutations associated with congenital auricle malformation. CRISPR/Cas9 gene-edited murine models were generated in response to the identified mutation. The auricular phenotypes of these gene-edited mice were systematically monitored. Small-animal Micro-CT scanning was employed to identify potential craniofacial or skeletal abnormalities. Furthermore, the expression of the <em>HMX1</em> gene in the PA2 region of mouse embryos was quantified using RT-qPCR.</div></div><div><h3>Results</h3><div>A co-segregated 600 base pair duplication located on chromosome 4 (chr4:8701900-8702500, hg19) was identified in affected individuals across three pedigrees, but was absent in healthy controls. Two types of CRISPR/Cas9 gene-edited mice were subsequently generated. The knock-in (KI) mouse model was engineered by inserting one copy of the duplicated sequence directly adjacent to the mutated site, whereas the knockout (KO) mouse model was created by excising the mutation sequence. The phenotypes of different group of CRISPR/Cas9 gene-edited mice demonstrated distinct auricular deformities. Furthermore, an increase in the copy number of the mutated sequence was associated with elevated expression levels of <em>HMX1</em> in the gene-edited mouse model.</div></div><div><h3>Conclusions</h3><div>In this study, we further narrowed down and identified a 600 base pair copy number variation (CNV) located at chr4:8701900-8702500 (hg19), which is implicated in human bilateral, isolated microtia. Utilizing CRISPR/Cas9 technology, we developed novel mouse models harboring the identified mutation. These models serve as a robust platform for the comprehensive invest
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引用次数: 0
The impact of endoscopic sinus surgery in pediatric patients with sinogenic intracranial infection: A systematic review and meta-analysis 内窥镜鼻窦手术对颅内窦源性感染儿科患者的影响:系统回顾与荟萃分析
IF 1.2 4区 医学 Q3 OTORHINOLARYNGOLOGY Pub Date : 2024-11-26 DOI: 10.1016/j.ijporl.2024.112176
Elysia Grose , Jenny B. Xiao , Evan Fang , Brigitte Routhier-Chevrier , Jennifer M. Siu , Nikolaus E. Wolter

Objective

This review aims to elucidate the role of endoscopic sinus surgery (ESS) on the outcomes of pediatric patients with sinogenic intracranial infections.

Methods

MEDLINE, Embase, and the Cochrane library were searched for articles that described the outcomes in pediatric patients who had intracranial complications of acute rhinosinusitis (ARS) and underwent ESS with or without open neurosurgical approaches (ONA) or external sinus approaches (ESA). Primary outcomes of interest include mortality, revision surgery, length of stay and neurological sequelae. Random effects meta-analysis was performed.

Results

Forty-eight articles met the final eligibility criteria, totaling 710 pediatric patients and 905 intracranial complications. The most common complications were subdural empyema (n = 261, 29 %), epidural abscess (n = 213, 24 %), and Pott's Puffy tumor (PPT) (n = 95, 10 %). When comparing patients who underwent ESS (alone or combined with ONA) to those who underwent ONA only, there was a decreased risk of revision surgery (RR = 0.66, 95 % CI = 0.38–1.12 and RR = 0.63, 95 % CI = 0.36–1.09, respectively) and decreased risk of neurological sequelae (RR = 0.65, 95 % CI = 0.15–2.74 and RR = 0.50, 95 % CI = 0.20–1.26, respectively), however these differences were not statistically significant. When patients who underwent combined intervention were compared to ESS only, the risk of revision surgery (RR = 1.04, 95 % CI = 0.62–1.72) and neurological sequelae (RR = 0.99, 95 % CI = 0.37–2.64) were similar. Risk of mortality was minimal and similar across all interventions.

Conclusion

The current study including primarily small retrospective studies found no statistically significant differences between children who received ESS alone, ESS with ONA or ONA alone, on mortality, revision surgery, length of stay and neurological sequelae. Although ESS may be beneficial for managing certain pediatric sinogenic intracranial infections, its true effectiveness is difficult to determine due to the variability in the types of intracranial complications and the inconsistent extent of ESS procedures reported in the literature.
本综述旨在阐明内窥镜鼻窦手术(ESS)对患有窦源性颅内感染的儿科患者的治疗效果所起的作用。方法在MEDLINE、Embase和Cochrane图书馆中检索了描述急性鼻窦炎(ARS)颅内并发症儿科患者的治疗效果的文章,这些患者接受了ESS手术,或未接受开放神经外科方法(ONA)或外窦方法(ESA)。主要研究结果包括死亡率、翻修手术、住院时间和神经系统后遗症。结果48篇文章符合最终资格标准,共有710名儿科患者和905例颅内并发症。最常见的并发症是硬膜下积液(n = 261,29%)、硬膜外脓肿(n = 213,24%)和Pott's Puffy肿瘤(PPT)(n = 95,10%)。将接受ESS(单独或与ONA联合)治疗的患者与仅接受ONA治疗的患者进行比较,结果显示,患者接受翻修手术的风险降低(RR=0.66,95% CI=0.38-1.12;RR=0.63,95% CI=0.36-1.09),神经系统后遗症的风险降低(RR=0.65,95% CI=0.15-2.74;RR=0.50,95% CI=0.20-1.26),但这些差异并无统计学意义。如果将接受联合干预的患者与仅接受ESS的患者进行比较,则翻修手术风险(RR = 1.04,95 % CI = 0.62-1.72)和神经系统后遗症风险(RR = 0.99,95 % CI = 0.37-2.64)相似。结论目前的研究主要包括小型回顾性研究,结果发现,在死亡率、翻修手术、住院时间和神经系统后遗症方面,单纯接受ESS、ESS联合ONA或单纯接受ONA的患儿之间没有统计学意义上的显著差异。尽管ESS可能有利于处理某些小儿窦源性颅内感染,但由于颅内并发症类型的差异以及文献中报道的ESS手术程度不一致,因此很难确定其真正的有效性。
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引用次数: 0
Assessing robotic-assisted procedures in pediatric otolaryngology: A systematic review and meta-analysis 评估小儿耳鼻喉科机器人辅助手术:系统回顾和荟萃分析
IF 1.2 4区 医学 Q3 OTORHINOLARYNGOLOGY Pub Date : 2024-11-22 DOI: 10.1016/j.ijporl.2024.112175
Drew C. Gottman , Michaele Francesco Corbisiero , Arman Saeedi , Samantha Bothwell , Ellie Svoboda , Andy Ai , Soham Roy

Background

Robotic-assisted surgery is increasingly used in pediatric otolaryngology, offering potential benefits like improved cosmetic outcomes. However, challenges such as longer operative times, higher costs, and a steep learning curve remain.

Objectives

This systematic review and meta-analysis assess whether robotic-assisted surgery offers advantages in operative time, complication rates, hospital stay, and cosmetic outcomes compared to traditional methods in pediatric patients.

Methods

A literature search identified 20 studies, with six focused on thyroidectomy. Data on operative time, complications, hospital stay, and cosmetic outcomes were extracted and analyzed.

Results

No significant differences in operative time or complications were found for robotic-assisted thyroidectomy, but it showed superior cosmetic outcomes and, in some cases, shorter hospital stays. Additional analyses suggested feasibility and functional benefits of other robotic procedures.

Conclusions

Robotic-assisted surgery in pediatric otolaryngology is as safe and efficient as traditional methods, with added cosmetic and functional benefits. Further large-scale trials are needed.
背景机器人辅助手术越来越多地应用于小儿耳鼻喉科,具有改善美容效果等潜在优势。本系统综述和荟萃分析评估了与传统方法相比,机器人辅助手术在小儿患者的手术时间、并发症发生率、住院时间和美容效果方面是否具有优势。方法文献检索发现了 20 项研究,其中 6 项侧重于甲状腺切除术。结果未发现机器人辅助甲状腺切除术在手术时间或并发症方面有显著差异,但其美容效果更佳,某些病例的住院时间更短。结论小儿耳鼻喉科的机器人辅助手术与传统方法一样安全、高效,而且还具有美容和功能方面的优势。需要进一步开展大规模试验。
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引用次数: 0
The characteristics of occult foreign body aspiration and predicting factors in children 儿童隐性异物吸入的特点和预测因素。
IF 1.2 4区 医学 Q3 OTORHINOLARYNGOLOGY Pub Date : 2024-11-19 DOI: 10.1016/j.ijporl.2024.112169
Yi Zhang , Yan Li , Rui Zhang , Lin Zhong , Lina Chen

Objective

To summarize the clinical characteristics and risk factors of occult foreign body aspiration (FBA) in children, which can help with early diagnosis and timely intervention, potentially preventing further exacerbations.

Methods

We retrospectively analyzed the clinical data of the children with a final diagnosis of FBA by flexible bronchoscopy in our hospital from 2017 to 2023. The patients were divided into occult and typical groups, and two groups were compared. Multivariate binary logistic regression analysis was employed to identify risk factors associated with the occurrence of occult FBA.

Results

Among 1031 patients, the incidence of occult FBA was 4.3 % (44 cases). Compared to the typical group, children in the occult group had higher odds of ventilator management (P = .006) and longer postoperative hospitalization time (P < .001). Risk factors for predicting occult FBA were identified as age greater than 3 years old [OR: 6. 918; 95%CI (3.150–15.191)], fever [OR: 2.323; 95%CI (1.092–4.939)], inspiratory laryngeal stridor [OR: 6.514; 95%CI (1.863–22.781)], atelectasis [OR: 3.372; 95%CI (1.418–8.020)], and infiltration [OR: 2.749; 95%CI (1.195–6.323)].

Conclusions

Unlike typical FBA, the diagnosis of occult FBA is far more challenging, and occult foreign bodies are linked to a further exacerbation. This study identifies a few risk factors that have the potential to facilitate an early diagnosis of occult FBA in children. Further multicenter studies should be conducted to validate the findings.
摘要总结儿童隐匿性异物吸入(FBA)的临床特点和危险因素,有助于早期诊断和及时干预,可能避免病情进一步加重:我们回顾性分析了2017年至2023年我院经软式支气管镜检查最终确诊为FBA的患儿的临床资料。将患者分为隐匿组和典型组,两组进行比较。采用多变量二元逻辑回归分析来确定与隐匿性FBA发生相关的风险因素:结果:1031 名患者中,隐性 FBA 的发生率为 4.3%(44 例)。与典型组相比,隐匿组患儿使用呼吸机的几率更高(P = .006),术后住院时间更长(P 结论:隐匿组患儿术后住院时间更长(P = .006):与典型的 FBA 不同,隐匿性 FBA 的诊断更具挑战性,而且隐匿性异物与病情进一步恶化有关。本研究发现了一些风险因素,这些因素有可能促进儿童隐匿性 FBA 的早期诊断。应进一步开展多中心研究以验证研究结果。
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引用次数: 0
Comparison of current staging systems for predicting pediatric cholesteatoma outcomes 比较目前用于预测小儿胆脂瘤预后的分期系统。
IF 1.2 4区 医学 Q3 OTORHINOLARYNGOLOGY Pub Date : 2024-11-19 DOI: 10.1016/j.ijporl.2024.112170
Soorya Todatry , Robert Newsom , James Wald , Manuela Fina

Introduction

This study aims to assess the utility of the European Academy of Otology & Neurotology – Japanese Otologic Society (EAONO-JOS) and Potsic staging systems in predicting recidivism in pediatric patients with congenital (CC), primary acquired (PA), and secondary acquired (SA) cholesteatoma.

Methods

This is a retrospective study on 31 ears from 30 pediatric patients (≤18 years old) treated from 2015 to 2023 for CC, PA, and SA cholesteatoma. Surgical ears were classified according to EAONO-JOS and Potsic staging system. Surgery included transcanal endoscopic ear surgery (TEES), canal-wall up (CWU) or canal-wall down (CWD) mastoidectomy. Primary outcomes included the rate of residual disease at second-look surgery and the rate of recurrence at clinical observation. In addition, stapes erosion, incus erosion, labyrinthine fistula, and extension of disease in the mastoid at primary surgery were investigated for predictivity for recidivism. Descriptive statistics, Kaplan-Meier estimators (KM), and Fisher's Exact tests were used for statistical analysis.

Results

Based on EAONO-JOS staging, the majority (87 %) of cholesteatoma were stage II (100 % for CC, 86.7 % for PA, and 60 % for SA). The rate of residual disease was 45 % for CC, 60 % for PA, and 40 % for SA cholesteatoma. The rate of recurrent disease among the entire cohort was 6.5 %. Univariate analysis on stapes or incus erosion or mastoid extension did not predict residual disease. Within the CC cohort, outcomes suggest a potential correlation between Potsic stage and the risk of residual disease. Insufficient variability in EAONO-JOS stages precluded statistical analysis of the system's ability to predict residual disease. Among the EAONO-JOS stage II cases, those presenting with all three variables (mastoid extension, incus erosion, and stapes erosion) at primary surgery had lower KM survivability (p = 0.010). The type of surgery was predictive of residual disease: CWU was associated with a lower KM survivability compared to TEES (p = .009). CWD was not predictive, given the insufficient sample size. Among all ears, 58 % were managed with TEES.

Conclusions

In this limited cohort of pediatric CC, PA, and SA cholesteatoma, the majority of cases were managed with TEES. Among EAONO-JOS stage II cases, the simultaneous presence of mastoid extension, incus erosion, and stapes erosion at primary surgery demonstrated statistically significant decreased residual-free survivability; TEES approach at primary surgery also has a statistically significant improved residual-free survivability compared to CWU approach.
简介:本研究旨在评估欧洲耳科与神经耳科学会-日本耳科学会(EAONO-JOS)和Potsic分期系统在预测先天性(CC)、原发性获得性(PA)和继发性获得性(SA)胆脂瘤儿科患者复发率方面的实用性:这是一项回顾性研究,研究对象是2015年至2023年期间接受CC、PA和SA胆脂瘤治疗的30名儿科患者(≤18岁)的31只耳朵。手术耳根据 EAONO-JOS 和 Potsic 分期系统进行分类。手术包括经耳道内窥镜耳科手术(TEES)、管壁向上(CWU)或管壁向下(CWD)乳突切除术。主要结果包括二诊手术的残留率和临床观察的复发率。此外,还调查了镫骨糜烂、切迹糜烂、迷宫瘘管和乳突内疾病在初次手术时的扩展情况,以预测复发率。统计分析采用了描述性统计、卡普兰-梅耶估计器(KM)和费雪精确检验:根据EAONO-JOS分期,大多数胆脂瘤(87%)为II期(CC为100%,PA为86.7%,SA为60%)。CC、PA 和 SA 胆脂瘤的残留率分别为 45%、60% 和 40%。整个队列中疾病复发率为 6.5%。对镫骨或切迹糜烂或乳突扩展的单变量分析不能预测残留疾病。在CC队列中,结果表明Potsic分期与残留疾病风险之间存在潜在的相关性。由于EAONO-JOS分期的变异性不足,因此无法对该系统预测残留疾病的能力进行统计分析。在 EAONO-JOS II 期病例中,初次手术时出现所有三个变量(乳突扩展、切迹糜烂和镫骨糜烂)的病例的 KM 存活率较低(P = 0.010)。手术类型可预测残留疾病:与 TEES 相比,CWU 与较低的 KM 存活率相关(p = 0.009)。由于样本量不足,CWD 并不具有预测性。在所有病例中,58%的病例接受了TEES治疗:结论:在这批有限的小儿CC、PA和SA胆脂瘤患者中,大多数病例都采用了TEES治疗。在EAONO-JOS II期病例中,初次手术时同时存在乳突扩展、切迹糜烂和镫骨糜烂的病例,其无残留存活率在统计学上显著下降;与CWU方法相比,初次手术时采用TEES方法也在统计学上显著提高了无残留存活率。
{"title":"Comparison of current staging systems for predicting pediatric cholesteatoma outcomes","authors":"Soorya Todatry ,&nbsp;Robert Newsom ,&nbsp;James Wald ,&nbsp;Manuela Fina","doi":"10.1016/j.ijporl.2024.112170","DOIUrl":"10.1016/j.ijporl.2024.112170","url":null,"abstract":"<div><h3>Introduction</h3><div>This study aims to assess the utility of the European Academy of Otology &amp; Neurotology – Japanese Otologic Society (EAONO-JOS) and Potsic staging systems in predicting recidivism in pediatric patients with congenital (CC), primary acquired (PA), and secondary acquired (SA) cholesteatoma.</div></div><div><h3>Methods</h3><div>This is a retrospective study on 31 ears from 30 pediatric patients (≤18 years old) treated from 2015 to 2023 for CC, PA, and SA cholesteatoma. Surgical ears were classified according to EAONO-JOS and Potsic staging system. Surgery included transcanal endoscopic ear surgery (TEES), canal-wall up (CWU) or canal-wall down (CWD) mastoidectomy. Primary outcomes included the rate of residual disease at second-look surgery and the rate of recurrence at clinical observation. In addition, stapes erosion, incus erosion, labyrinthine fistula, and extension of disease in the mastoid at primary surgery were investigated for predictivity for recidivism. Descriptive statistics, Kaplan-Meier estimators (KM), and Fisher's Exact tests were used for statistical analysis.</div></div><div><h3>Results</h3><div>Based on EAONO-JOS staging, the majority (87 %) of cholesteatoma were stage II (100 % for CC, 86.7 % for PA, and 60 % for SA). The rate of residual disease was 45 % for CC, 60 % for PA, and 40 % for SA cholesteatoma. The rate of recurrent disease among the entire cohort was 6.5 %. Univariate analysis on stapes or incus erosion or mastoid extension did not predict residual disease. Within the CC cohort, outcomes suggest a potential correlation between Potsic stage and the risk of residual disease. Insufficient variability in EAONO-JOS stages precluded statistical analysis of the system's ability to predict residual disease. Among the EAONO-JOS stage II cases, those presenting with all three variables (mastoid extension, incus erosion, and stapes erosion) at primary surgery had lower KM survivability (p = 0.010). The type of surgery was predictive of residual disease: CWU was associated with a lower KM survivability compared to TEES (p = .009). CWD was not predictive, given the insufficient sample size. Among all ears, 58 % were managed with TEES.</div></div><div><h3>Conclusions</h3><div>In this limited cohort of pediatric CC, PA, and SA cholesteatoma, the majority of cases were managed with TEES. Among EAONO-JOS stage II cases, the simultaneous presence of mastoid extension, incus erosion, and stapes erosion at primary surgery demonstrated statistically significant decreased residual-free survivability; TEES approach at primary surgery also has a statistically significant improved residual-free survivability compared to CWU approach.</div></div>","PeriodicalId":14388,"journal":{"name":"International journal of pediatric otorhinolaryngology","volume":"187 ","pages":"Article 112170"},"PeriodicalIF":1.2,"publicationDate":"2024-11-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142695489","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
Temporal cue based categorization and speech perception in noise among pediatric cochlear implant users 基于时间线索的分类和小儿人工耳蜗使用者在噪音中的语音感知。
IF 1.2 4区 医学 Q3 OTORHINOLARYNGOLOGY Pub Date : 2024-11-19 DOI: 10.1016/j.ijporl.2024.112171
Anuj Kumar Neupane, C.S. Vanaja

Objectives

Voice onset time (VOT) has been identified as a potential temporal cue for predicting children's performance in speech-in-noise tasks, yet the relationship between these two factors has never been explored among children using CI. Hence, the present study aimed to explore the performance of children using CI on temporal cue-based syllable categorization test and speech perception in noise and examine the relationship between the two.

Methods

Temporal cue-based syllable categorization test was developed with the manipulation of /ba/ sound in 10 steps continuum with VOT varied between −74 ms to 26 ms. The developed test and revised speech in noise for Marathi-speaking children (0 and 5 dB SNR) were administered to thirty children with unilateral cochlear implant and thirty children with normal hearing, aged between 5 to 7 years.

Results

The Mann-Whitney U test showed significant differences between groups in temporal cue-based categorization and speech in noise tests at 0 dB and 5 dB SNR. Kendall Tau B revealed a moderate correlation between implant age and scores on the temporal cue-based categorization and speech in noise tests at 0 dB SNR, with a strong correlation at 5 dB SNR. Additionally, there was a significant moderate relationship between temporal cue-based categorization and speech in noise test scores at both 0 dB and 5 dB SNR.

Conclusion

The present study highlights the importance of temporal cues in speech perception and the need for temporal processing for children using cochlear implants. It reinforces the evidence that speech perception skills improve with implant age.
研究目的发声时间(VOT)被认为是预测儿童在噪声语音任务中表现的潜在时间线索,但使用 CI 的儿童从未探讨过这两个因素之间的关系。因此,本研究旨在探讨使用 CI 的儿童在基于时间线索的音节分类测试和噪声中的语音感知方面的表现,并研究两者之间的关系:方法:本研究开发了基于时间线索的音节分类测试,将 /ba/ 音分为 10 个连续步骤,VOT 在 -74 毫秒到 26 毫秒之间变化。对 30 名单侧人工耳蜗植入的儿童和 30 名听力正常的 5 至 7 岁儿童进行了所开发的测试和马拉地语儿童的噪声修订语音(0 和 5 dB SNR)测试:Mann-Whitney U 检验显示,在 0 分贝和 5 分贝信噪比条件下,基于时间线索的分类和噪音中的语音测试在组间存在显著差异。Kendall Tau B显示,植入年龄与0 dB信噪比时基于时间线索的分类和噪音中的语音测试得分之间存在中等程度的相关性,而在5 dB信噪比时则存在较强的相关性。此外,在 0 dB 和 5 dB SNR 条件下,基于时间线索的分类与噪声中语音测试得分之间存在显著的中度关系:本研究强调了时间线索在语音感知中的重要性,以及使用人工耳蜗的儿童进行时间处理的必要性。本研究加强了语言感知能力随植入年龄增长而提高的证据。
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引用次数: 0
Tracheostomy in children with mucopolysaccharidosis: A systematic review 黏多醣症儿童的气管造口术:系统综述
IF 1.2 4区 医学 Q3 OTORHINOLARYNGOLOGY Pub Date : 2024-11-19 DOI: 10.1016/j.ijporl.2024.112167
Francesca Galluzzi , Werner Garavello

Objectives

Children with mucopolysaccharidosis (MPS) with difficult airways may require tracheostomy, and surgery can be challenging. This review aims to study the indications, surgical aspects, postoperative complications and outcomes of tracheostomy in MPS children.

Methods

A systematic review following Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines was conducted. Pubmed and Embase were searched for studies on tracheostomy in children with MPS. The Joanna Briggs Institute was used for quality appraisal.

Results

A total of 9 studies were included. Three were retrospectives, one was prospective, and five were case series. Overall, 34 subjects who underwent a tracheostomy were included. The mean age was 11 years and the male/female ratio was 1.7. MPS II was the most common type included (16/34). The percentage of tracheotomized MPS children was 10 % (ranging from 3.5 % to 15.5 %). Indications for tracheostomy were: progressive or urgent airway obstruction unresponsive to conservative treatments, before a planned surgical procedure, and in case of failed intubation/extubation. Characteristics clinical features make surgery difficult and predispose complications such as tracheal granulations, wound infection, stomal narrowing, persistent of abundant secretions and tracheitis. Considering tracheostomy outcome, two patients underwent decannulation, but one of them required reinsertion tracheostomy after one year. The duration of follow-up was 8.4 and 9.98 years.

Conclusion

Tracheostomy is an effective means of ensuring airway patency in children with MPS and is considered essentially permanent. Management can be challenging due to typical clinical features and progression of MPS. A planned multidisciplinary approach may prevent complications.
目的患有粘多糖病(MPS)、呼吸道困难的儿童可能需要进行气管切开术,而手术可能具有挑战性。本综述旨在研究 MPS 儿童气管切开术的适应症、手术方面、术后并发症和疗效。方法按照《系统综述和元分析首选报告项目》指南进行系统综述。在 Pubmed 和 Embase 中检索了有关 MPS 儿童气管切开术的研究。结果 共纳入 9 项研究。其中三项为回顾性研究,一项为前瞻性研究,五项为病例系列研究。总共纳入了 34 名接受气管造口术的受试者。平均年龄为 11 岁,男女比例为 1.7。MPS II 是最常见的类型(16/34)。接受气管切开术的 MPS 儿童占 10%(从 3.5% 到 15.5% 不等)。气管切开术的适应症包括:对保守治疗无效的进行性或紧急气道阻塞、计划中的外科手术前以及插管/拔管失败的情况。气管造口术的临床特征会给手术带来困难,并容易引起气管肉芽、伤口感染、气管狭窄、持续大量分泌物和气管炎等并发症。考虑到气管造口术的结果,两名患者接受了气管造口术,但其中一人需要在一年后重新插入气管造口术。结论 气管造口术是确保 MPS 患儿气道通畅的有效方法,而且基本上是永久性的。由于 MPS 的典型临床特征和病情发展,管理可能具有挑战性。有计划的多学科方法可预防并发症。
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引用次数: 0
Differential sleep subtypes in children with OSA of different ages 不同年龄段 OSA 患儿的睡眠亚型差异
IF 1.2 4区 医学 Q3 OTORHINOLARYNGOLOGY Pub Date : 2024-11-15 DOI: 10.1016/j.ijporl.2024.112168
Chenxi Luo, Wenbo Chen, Qi Li

Objective

The aim of this study was to evaluate the variations in sleep architecture and types of sleep disturbances in preschool and school-age children diagnosed with obstructive sleep apnea (OSA).

Methods

Children who underwent polysomnography (PSG) were enrolled and divided into two groups based on age: a preschool group and a school-age group. We analyzed differences in sleep architecture and types of sleep disturbances between these groups.

Results

Total sleep time was significantly higher in the preschool group compared to the school-age group (P < 0.05). The percentage of Stage N1 sleep (N1%) was also higher in the preschool group (p < 0.05). Conversely, the percentage of Stage N2 sleep (N2%) was lower in the preschool group (p < 0.05). Additionally, the average and minimum heart rates were higher in the preschool group, while the minimum oxygen saturation, including during non-rapid eye movement (NREM) and REM stages, was lower compared to the school-age group (P < 0.05). The prevalence of positional OSA (P-OSA) was lower, and the prevalence of REM OSA (R-OSA) was higher in the preschool group (P < 0.05).

Conclusion

The prevalence of P-OSA was lower, and R-OSA was higher in preschool children compared to school-age children. Furthermore, the types of sleep disturbances in preschool children with OSA showed significant differences from those in school-age children with OSA.
本研究旨在评估被诊断患有阻塞性睡眠呼吸暂停(OSA)的学龄前儿童和学龄期儿童的睡眠结构和睡眠障碍类型的变化。方法对接受多导睡眠图(PSG)检查的儿童进行登记,并根据年龄分为两组:学龄前组和学龄期组。结果学龄前组的总睡眠时间明显高于学龄组(P <0.05)。学龄前组的 N1 阶段睡眠百分比(N1%)也较高(P < 0.05)。相反,学龄前组的 N2 阶段睡眠百分比(N2%)较低(P < 0.05)。此外,与学龄组相比,学龄组的平均心率和最低心率更高,而最低血氧饱和度(包括非快速眼动(NREM)和快速眼动阶段)更低(P <0.05)。结论 与学龄儿童相比,学龄前儿童的体位性 OSA(P-OSA)患病率较低,而快速动眼期 OSA(R-OSA)患病率较高(P <0.05)。此外,学龄前儿童 OSA 患者的睡眠障碍类型与学龄儿童 OSA 患者的睡眠障碍类型存在显著差异。
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引用次数: 0
Impact of demographics and social vulnerability on outcomes in pediatric medullary thyroid cancer 人口统计学和社会脆弱性对小儿甲状腺髓样癌预后的影响。
IF 1.2 4区 医学 Q3 OTORHINOLARYNGOLOGY Pub Date : 2024-11-14 DOI: 10.1016/j.ijporl.2024.112166
Arifeen Rahman, Christopher Low, Alice Huang, Kara Meister, Karthik Balakrishnan

Objective

To evaluate the impact of social vulnerability and social determinants of health on outcomes in pediatric medullary thyroid cancer.

Methods

A SEER database review looking at cases of pediatric medullary thyroid cancer from 1975 to 2016 was conducted and analyzed including data from the American Community Survey.

Results

A total of 174 patients were included in analysis. Five-year overall survival was 97.7 % and the disease specific survival (DSS) was 98.3 %. On univariate analysis, male sex was associated with worsened overall survival (HR = 4.2, CI 1.1–15.5, p < 0.05) but did not reach statistical significance on multivariate analysis. Asian or Pacific Islander race was associated with worsened overall survival on both univariate and multivariate analysis (HR = 5.5, CI 1.4–22.2, p < 0.05). Presenting with localized disease without nodal or distant metastasis was found to be a protective factor (HR = 0.2, CI 0.05–0.53, p < 0.01).

Conclusion

Asian American/Pacific Islander patients and male patients may have poorer survival in pediatric medullary thyroid cancer. More research should be completed to better understand underlying factors.
目的:评估社会脆弱性和社会健康决定因素对小儿甲状腺髓样癌治疗效果的影响:评估社会脆弱性和健康的社会决定因素对小儿甲状腺髓样癌治疗效果的影响:对1975年至2016年的小儿甲状腺髓样癌病例进行了SEER数据库回顾,并分析了美国社区调查的数据:共有174名患者纳入分析。五年总生存率为97.7%,疾病特异性生存率(DSS)为98.3%。在单变量分析中,男性与总生存率下降有关(HR = 4.2,CI 1.1-15.5,P 结论:男性与总生存率下降有关:亚裔美国人/太平洋岛民患者和男性患者的小儿甲状腺髓样癌生存率可能较低。应开展更多研究,以更好地了解潜在因素。
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引用次数: 0
Airway management in pediatric patients undergoing microvascular free tissue transfer reconstruction after mandibulectomy 下颌骨切除术后接受微血管游离组织转移重建术的儿童患者的气道管理。
IF 1.2 4区 医学 Q3 OTORHINOLARYNGOLOGY Pub Date : 2024-11-12 DOI: 10.1016/j.ijporl.2024.112163
Elizabeth O. Shay , Madhuri Kesani , Michael G. Moore , Avinash V. Mantravadi , Michael W. Sim , Jessica Yesensky , Janice L. Farlow , David Campbell , Diane W. Chen

Objectives

Microvascular free tissue transfer (MVFTT) for head and neck reconstruction is infrequently performed in pediatric patients. There is a paucity of data on perioperative airway management in pediatric MVFTT, such as the need for tracheostomy, which can pose higher morbidity to young patients due to potential long-term effects on the softer, more pliable laryngotracheal cartilage. Our objective was to report airway outcomes on pediatric patients undergoing MVFTT after segmental mandibulectomy with or without tracheostomy.

Methods

Retrospective chart review of pediatric patients who underwent MVFTT reconstruction after segmental mandibulectomy at a tertiary care center from 2014 to 2023. Demographic variables, surgical characteristics, and hospital clinical outcomes were recorded. Statistical analyses were performed with JMP Pro, Version 16.0.0 (2021) SAS Institute Inc., Cary, NC, 1989–2021.

Results

Ten patients (median age 11.5 years old, IQR: 9.0–13.3) underwent fibular free flap reconstruction. Mandibular pathologies included 3 ameloblastoma, 2 mesenchymal chondrosarcoma, 2 desmoplastic fibroma, 1 Ewing sarcoma, 1 chondroblastic osteosarcoma, and 1 desmoid tumor. Two patients received upfront tracheostomy at time of initial surgery for a subtotal mandibulectomy and a sub-hemimandibulectomy, respectively. Both patients were decannulated within 1 week after surgery and prior to discharge. The median ICU and hospital length of stay for patients who underwent tracheostomy was 3.5 days [IQR: 3.0–4.0] and 8.5 days [IQR: 8.0–9.0] respectively. Of the remaining 8 patients without tracheostomy, surgical defects were hemimandibulectomy and anterior subtotal mandibulectomy. Median intubation duration was 1.0 day [IQR: 1.0–2.5]. The median ICU and hospital length of stay for these patients were 3.0 days [IQR: 2.0–6.3] and 8.5 days [IQR: 7.3–13.0], respectively. No patient had to be reintubated for respiratory failure following extubation or had long-term airway complications during the follow-up period.

Conclusions

Fibular free flap reconstruction without tracheostomy can be feasible in pediatric patients with mandibular defects, which can potentially reduce hospital resources required for fresh tracheostomy care needs and avoid additional surgical morbidity. Further studies in larger populations and prospective approaches are warranted.
目的:用于头颈部重建的微血管游离组织转移(MVFTT)很少在儿童患者中实施。有关小儿 MVFTT 围手术期气道管理的数据很少,例如是否需要气管造口术,由于气管软骨更软、更柔韧,可能会对其造成长期影响,这可能会给年轻患者带来更高的发病率。我们的目的是报告在下颌骨节段切除术后接受 MVFTT 并进行或不进行气管造口术的儿科患者的气道效果:方法:对2014年至2023年在一家三级医疗中心接受下颌骨节段切除术后MVFTT重建的儿科患者进行回顾性病历审查。记录了人口统计学变量、手术特征和医院临床结果。统计分析采用 JMP Pro 16.0.0 版(2021 年),SAS Institute Inc:10名患者(中位年龄11.5岁,IQR:9.0-13.3)接受了腓骨游离瓣重建术。下颌骨病变包括3颗釉母细胞瘤、2颗间叶软骨肉瘤、2颗去骨纤维瘤、1颗尤文肉瘤、1颗软骨骨肉瘤和1颗类脂膜瘤。两名患者在初次手术时分别接受了下颌骨次全切除术和下颌骨次全切除术,并在手术前进行了气管造口术。两名患者均在术后 1 周内出院。接受气管切开术患者的重症监护室和住院时间中位数分别为3.5天[IQR:3.0-4.0]和8.5天[IQR:8.0-9.0]。其余 8 名未接受气管切开术的患者的手术缺陷为半下颌骨切除术和前下颌骨次全切除术。插管时间中位数为 1.0 天[IQR:1.0-2.5]。这些患者的重症监护室和住院时间中位数分别为 3.0 天 [IQR: 2.0-6.3] 和 8.5 天 [IQR: 7.3-13.0]。没有患者在拔管后因呼吸衰竭而再次插管,也没有患者在随访期间出现长期气道并发症:结论:腓骨游离皮瓣重建术对下颌骨缺损的儿科患者来说是可行的,无需气管造口术,这有可能减少医院用于气管造口术护理所需的资源,并避免额外的手术发病率。我们有必要对更多的人群和前瞻性方法进行进一步研究。
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引用次数: 0
期刊
International journal of pediatric otorhinolaryngology
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