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Identification of core gene in chronic rhinosinusitis with nasal polyps and correlations with inflammation-related genes 慢性鼻炎伴鼻息肉核心基因的鉴定及其与炎症相关基因的关联
IF 2.2 4区 医学 Q2 OTORHINOLARYNGOLOGY Pub Date : 2024-03-01 DOI: 10.1016/j.bjorl.2024.101410
Jingpu Yang , Chang Liu , Jinzhang Cheng , Yunmeng Wang , Zonggui Wang , Wei Zhong

Objective

Our aim in this study is to identify the core genes of chronic rhinosinusitis with nasal polyps and analyze the correlations between it and inflammation-related genes.

Methods

GSE72713 dataset containing gene expression data of ECRSwNP, nonECRSwNP and healthy samples was obtained from Gene Expression Omnibus (GEO) and filtered by limma to identify DEGs among three groups, then the functions and correlated pathways of DEGs were analyzed using GO and KEGG. The core DEGs were selected by the intersection of DEGs and the PPI network was constructed via STRING. The correlations between the expression levels of CRSwNP core gene and inflammation-related genes were analyzed via the Mann-Whitney U test.

Results

The DEGs among ECRSwNP, nonECRSwNP, and CTRL were filtered respectively, and enrichment analysis showed they were associated with olfaction and/or immune responses. The PPI network was constructed by 7 core DEGs obtained via the intersection among three groups, and ALOX15 was confirmed as the core gene in the network. Subsequently, the correlations between the expression levels of ALOX15 and inflammation-related genes were illustrated.

Conclusion

In this study, the core gene ALOX15 was selected from the DEGs among ECRSwNP, nonECRSwNP, and CTRL. IL5, IL1RL1, and IL1RAP were found to exhibit a significant positive correlation with ALOX15.

Level of Evidence

Level 3.

本研究旨在确定慢性鼻炎伴鼻息肉的核心基因,并分析其与炎症相关基因之间的关联。研究人员从基因表达总库(Gene Expression Omnibus,GEO)中获得了包含ECRSwNP、非ECRSwNP和健康样本基因表达数据的GSE72713数据集,并通过limma筛选出了三组样本中的DEGs,然后利用GO、KEGG分析了DEGs的功能和相关通路。通过DEGs的交叉筛选出核心DEGs,并通过STRING构建PPI网络。通过 Mann-Whitney 检验分析了 CRSwNP 核心基因与炎症相关基因表达水平的相关性。分别过滤了ECRSwNP、非ECRSwNP和CTRL中的DEGs,富集分析表明它们与嗅觉和/或免疫反应相关。通过三组交叉得到的 7 个核心 DEGs 构建了 PPI 网络,并确认 ALOX15 为网络中的核心基因。随后,ALOX15的表达水平与炎症相关基因之间的相关性也得到了说明。本研究从 ECRSwNP、nonECRSwNP 和 CTRL 的 DEGs 中选出了核心基因 ALOX15。研究发现,IL5、IL1RL1 和 IL1RAP 与 ALOX15 呈显著正相关。第 3 层
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引用次数: 0
Chronic rhinosinusitis with nasal polyps: changing expectations 伴有鼻息肉的慢性鼻炎:不断变化的预期
IF 2.2 4区 医学 Q2 OTORHINOLARYNGOLOGY Pub Date : 2024-03-01 DOI: 10.1016/j.bjorl.2024.101415
Otavio B. Piltcher
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引用次数: 0
Asymmetry of the anterior ethmoidal artery in relation to the anterior skull base: a population-based study of 500 arteries 乙状前动脉与前颅底的不对称:对 500 条动脉的人口研究
IF 2.2 4区 医学 Q2 OTORHINOLARYNGOLOGY Pub Date : 2024-03-01 DOI: 10.1016/j.bjorl.2024.101412
Bernard Beraldin , Gustavo Rassier Isolan , Lucas Rodrigues Mostardeiro , Vagner Antonio Rodrigues Silva , Joel Lavinsky

Objective

To analyze variability in the distance between the Anterior Ethmoidal Artery (AEA) and the anterior Skull Base (SB), as well as the frequency of lateral asymmetry in a Latin American population using computed tomography.

Methods

A total of 250 computed tomography scans of paranasal sinuses in coronal reconstruction (500 AEAs) were analyzed. After determining the image with the best anatomical view of the artery, the distance between its midpoint and the ethmoidal roof was measured, and the images were independently interpreted by 2 physicians.

Results

Of the 500 AEAs, 279 (55.8%) adhered to or passed through the SB at a distance of 0 mm. A total of 221 AEAs (44.2%) were at some distance from the SB, of which 107 (48.4%) were on the right side, ranging from 1.18 to 6.75 mm, and 114 (51.5%) were on the left side, ranging from 1.15 to 6.04 mm. The overall mean distance between the AEA and SB was 1.22 (SD = 1.57) mm, increasing to 2.77 (SD = 1.14) when the arteries adhered to the SB were excluded. Seventy-six individuals (30.4%) had a lateral distance variation > 1 mm.

Conclusion

Our study includes the largest sample of AEA analyzed with computed tomography scans of paranasal sinuses. There was some distance between the AEA and SB in almost half the patients, and we found a high rate of lateral variability >1 mm.

Level of evidence

Level 3.

使用计算机断层扫描分析拉丁美洲人群中乙状前动脉(AEA)与前颅底(SB)之间距离的变化以及侧向不对称的频率。共分析了 250 张冠状面重建的副鼻窦计算机断层扫描图像(500 张 AEA)。在确定动脉解剖视图最佳的图像后,测量动脉中点与乙状窦顶之间的距离,并由两名医生对图像进行独立解读。在 500 条 AEA 中,有 279 条(55.8%)与 SB 相连或穿过 SB,距离为 0 毫米。共有 221 个 AEA(44.2%)与 SB 保持一定距离,其中 107 个(48.4%)位于右侧,距离在 1.18 到 6.75 毫米之间,114 个(51.5%)位于左侧,距离在 1.15 到 6.04 毫米之间。AEA 和 SB 之间的总平均距离为 1.22(SD = 1.57)毫米,如果不包括附着在 SB 上的动脉,则增加到 2.77(SD = 1.14)毫米。76人(30.4%)的横向距离变化大于1毫米。我们的研究包括了通过计算机断层扫描分析鼻旁窦 AEA 的最大样本。几乎半数患者的 AEA 与 SB 之间存在一定距离,我们发现横向距离变化大于 1 毫米的比例很高。第 3 级。
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引用次数: 0
NKX2-1 gene is targeted by H19 lncRNA and is found to be overexpressed in benign nodular goiter tissues NKX2-1 基因是 H19 lncRNA 的靶向基因,在良性结节性甲状腺肿组织中被发现过度表达
IF 2.2 4区 医学 Q2 OTORHINOLARYNGOLOGY Pub Date : 2024-02-28 DOI: 10.1016/j.bjorl.2024.101409
Seyed-Morteza Javadirad

Objective

Nodular goiter may increase the risk of thyroid cancer, but the genetic factors contributing to nodular goiter are not well understood. There is an overexpression of H19 lncRNA in goiter tissue and its target remains unknown. In this study, we attempted to identify a new target for H19 in the context of goiter development.

Methods

Using interaction energy calculations, the interaction between NKX2-1 mRNA and H19 lncRNA was examined. Putative microRNAs were found at the H19 lncRNA target site with the highest affinity for NKX2-1. RNAseq data was analyzed to determine the tissue specificity of gene expression. Samples were taken from 18 goiter and 18 normal tissues during thyroidectomy. The expression of NKX2-1 was determined by RT-qPCR using specific primers.

Results

The interaction between NKX2-1 and H19 was characterized by six local base-pairing connections, with a maximum energy of −20.56 kcal/moL. Specifically, the sequence that displayed the highest affinity for binding with H19 overlapped with the binding site of has-miR-1827 to NKX2-1. It was found that NKX2-1 is exclusively co-expressed with H19 in normal thyroid tissue. As compared to adjacent normal tissues, nodular goiter tissues have a significant overexpression of NKX2-1 (relative expression = 1.195, p =  0.038).

Conclusion

NKX2-1 has been identified as the putative target of H19 lncRNA, which is overexpressed in nodular goiter tissues significantly.

Level of Evidence

4.

目的结节性甲状腺肿可能会增加罹患甲状腺癌的风险,但导致结节性甲状腺肿的遗传因素尚不十分清楚。H19 lncRNA在甲状腺肿组织中过度表达,但其靶点仍然未知。在这项研究中,我们试图在甲状腺肿发展的背景下确定 H19 的新靶点。方法利用相互作用能量计算,研究了 NKX2-1 mRNA 与 H19 lncRNA 之间的相互作用。在H19 lncRNA靶位点发现了与NKX2-1亲和力最高的推定microRNA。对 RNAseq 数据进行了分析,以确定基因表达的组织特异性。样本取自甲状腺切除术中的18个甲状腺肿和18个正常组织。结果 NKX2-1与H19之间的相互作用表现为六个局部碱基配对连接,最大能量为-20.56 kcal/moL。具体而言,与 H19 结合亲和力最高的序列与 has-miR-1827 与 NKX2-1 的结合位点重叠。研究发现,在正常甲状腺组织中,NKX2-1只与H19共同表达。结论NKX2-1被确定为H19 lncRNA的假定靶点,而H19 lncRNA在结节性甲状腺肿组织中显著过表达。
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引用次数: 0
Parapharyngeal and retropharyngeal infections in children: Kawasaki disease needs vigilance 儿童咽旁和咽后感染:需要警惕川崎病
IF 2.2 4区 医学 Q2 OTORHINOLARYNGOLOGY Pub Date : 2024-02-22 DOI: 10.1016/j.bjorl.2024.101405
Jia Liu , Shui-Hong Zhou

Objective

Kawasaki Disease (KD) may mimic Parapharyngeal (PPI) and Retropharyngeal Infections (RPI), leading to misdiagnosis as Deep Neck Infections (DNIs). The treatment plans for the two diseases are different, and delayed treatment can lead to serious complications. Therefore, prompt diagnosis and management are necessary. This study was performed to evaluate the clinical features of KD mimicking DNIs and explore the treatment options.

Methods

Children with cellulitis or abscess in parapharyngeal or retropharyngeal space in neck CT were included in this study. The medical records of enrolled children were retrospectively reviewed.

Results

In total, 56 children were diagnosed with PPI or/and RPI. Twenty-two (39.3%) participants were eventually diagnosed with KD, and 34 (60.7%) were diagnosed with DNIs. Compared with the DNIs group, the KD group had a higher body temperature (p = 0.007), and higher levels of AST (p = 0.040), ALT (p = 0.027), and ESR (p = 0.030). Deep cervical cellulitis (p = 0.005) were more common in the KD group. However, deep neck abscess often occurred in the DNIs group (p = 0.002), with parapharyngeal abscess being the most common type of abscess (p = 0.004). The KD mimicking DNIs cases did not respond to antibiotic treatment, but symptoms significantly improved after the use of Immunoglobulin (IVIG) and aspirin.

Conclusion

Children with KD may exhibit retropharyngeal or parapharyngeal inflammation in the early stages. KD should be considered a differential diagnosis for children with DNIs, high fever, and no response to antibiotic therapy. Surgery in KD mimicking deep neck abscess requires caution.

Level of Evidence

I.

目的 川崎病(KD)可能会模仿咽旁感染(PPI)和咽后感染(RPI),导致被误诊为颈深部感染(DNI)。这两种疾病的治疗方案不同,延误治疗会导致严重的并发症。因此,及时诊断和治疗是必要的。本研究旨在评估 KD 模仿 DNI 的临床特征,并探讨治疗方案。方法 本研究纳入了颈部 CT 显示咽旁或咽后间隙蜂窝织炎或脓肿的患儿。结果共有 56 名儿童被诊断为 PPI 或/和 RPI。22例(39.3%)最终被诊断为KD,34例(60.7%)被诊断为DNI。与 DNIs 组相比,KD 组体温更高(p = 0.007),AST(p = 0.040)、ALT(p = 0.027)和 ESR(p = 0.030)水平更高。深颈部蜂窝织炎(p = 0.005)在 KD 组更为常见。然而,颈深部脓肿常发生于 DNI 组(p = 0.002),其中咽旁脓肿是最常见的脓肿类型(p = 0.004)。模仿 DNIs 的 KD 病例对抗生素治疗无反应,但在使用免疫球蛋白(IVIG)和阿司匹林后症状明显改善。对于出现 DNI、高烧和对抗生素治疗无反应的儿童,KD 应被视为鉴别诊断。对于模仿颈部深脓肿的 KD,手术治疗需谨慎。
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引用次数: 0
Modified extracorporeal septoplasty: prospective study 改良体外鼻中隔成形术:前瞻性研究
IF 2.2 4区 医学 Q2 OTORHINOLARYNGOLOGY Pub Date : 2024-02-22 DOI: 10.1016/j.bjorl.2024.101398
Raphaella de Oliveira Migliavacca , Michelle Lavinsky , Olívia Egger de Souza , Eduardo Priesnitz Friedrich , Otávio Augusto Gonçalves Dias Cionek , Leonardo Ferreira Subda , Bárbara Luiza Bernardi

Objectives

This study aimed to evaluate quality-of-life and satisfaction outcomes in patients undergoing the MES using the Portuguese version of the Nasal Obstruction Symptom Evaluation (NOSE-p) and Rhinoplasty Outcome Evaluation (ROE), and also to evaluate the frequency of possible complications of this technique.

Methods

We conducted a single-center prospective study with patients who had the indication for MES, from May 2016 to September 2020 at the Facial Plastic Surgery Clinic of Otolaryngology Department of the Hospital de Clinicas de Porto Alegre. The primary outcome was the relative postoperative change in NOSE-p. Secondary outcome was the variation in ROE, a validated quality-of-life questionnaire for rhinoplasty patients.

Results

Of the 31 patients submitted to extracorporeal septorhinoplasty who were evaluated, twenty-seven patients were included. Preoperative and postoperative NOSE-p scale scores were 65.2 ± 29.9 and 23.5 ± 26.7, respectively (mean differences of 42.04; [95% CI 27.35–56.73]; p <  0.0001). Pre and postoperative ROE scores were 38.3 ± 24.3 vs. 67.29 ± 29.7, respectively (mean differences of −29.02; [95% CI −40.5 to −17.5]; p =  0.0001). Residual septal deviation was verified in 2 patients (7.4%).

Conclusion

Most of the patients submitted to modified extracorporeal septoplasty had a significant improvement in quality of life scores of nasal obstruction, with good aesthetical outcomes and low indices of postoperative complications.

Level of evidence

Level 3.

本研究旨在使用葡萄牙语版鼻腔阻塞症状评估(NOSE-p)和鼻整形术效果评估(ROE)评估接受 MES 术的患者的生活质量和满意度,同时评估该技术可能出现的并发症的频率。方法我们于 2016 年 5 月至 2020 年 9 月在阿雷格里港医院耳鼻喉科面部整形诊所对有 MES 适应症的患者进行了一项单中心前瞻性研究。主要结果是术后NOSE-p的相对变化。结果 在接受体外鼻中隔成形术评估的31名患者中,有27名患者接受了评估。术前和术后 NOSE-p 量表评分分别为 65.2 ± 29.9 和 23.5 ± 26.7(平均差异为 42.04;[95% CI 27.35-56.73];P <;0.0001)。术前和术后的 ROE 评分分别为 38.3 ± 24.3 vs. 67.29 ± 29.7(平均差异为 -29.02;[95% CI -40.5 to -17.5];p = 0.0001)。结论大多数接受改良体外鼻中隔成形术的患者的鼻阻塞生活质量评分显著改善,美观效果良好,术后并发症指数较低。
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引用次数: 0
Squamous cell carcinoma arising from a cholesteatoma of the maxillary sinus: a case report⋆ 上颌窦胆脂瘤引发的鳞状细胞癌:病例报告⋆
IF 2.2 4区 医学 Q2 OTORHINOLARYNGOLOGY Pub Date : 2024-02-22 DOI: 10.1016/j.bjorl.2024.101408
Tae-Gyun Kim, Chang-Ho Whangbo, Jae-Ho Yoo, Hee-Jun Park, Sang-Yen Geum, Seung-Heon Shin, Mi Kyung Ye
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引用次数: 0
Position paper of diagnosis and treatment of post-extubation laryngitis in a multidisciplinary expert-based opinion 基于多学科专家意见的拔管后喉炎诊断和治疗立场文件
IF 2.2 4区 医学 Q2 OTORHINOLARYNGOLOGY Pub Date : 2024-02-22 DOI: 10.1016/j.bjorl.2024.101401
Débora Bressan Pazinatto , Rebecca Maunsell , Melissa Ameloti Gomes Avelino , Jose Faibes Lubianca Neto , Cláudia Schweiger , Jamil Pedro de Siqueira Caldas , Marcelo Barciela Brandão , Paula Pires de Souza , Fernanda Aparecida de Oliveira Peixoto , Claudia Pires Ricachinevsky , Rita C. Silveira , Cinara Andreolio , Carolina Sponchiado Miura , Daniele da Silva Jordan Volpe , Walusa Assad Gonçalves Ferri , Fabiano Bleggi Gavazzoni , Paulo Ramos David João , Silmara Aparecida Possas , Carlos Takahiro Chone

Objectives

To make recommendations on the diagnosis and treatment of post-extubation laryngitis (PEL) in children with or without other comorbidities.

Methods

A three-iterative modified Delphi method was applied. Specialists were recruited representing pediatric otolaryngologists, pediatric and neonatal intensivists. Questions and statements approached topics encompassing definition, diagnosis, endoscopic airway evaluation, risk factors, comorbidities, management, and follow-up. A consensus was defined as a supermajority >70%.

Results

Stridor was considered the most frequent symptom and airway endoscopy was recommended for definitive diagnosis. Gastroesophageal reflux and previous history of intubation were considered risk factors. Specific length of intubation did not achieve a consensus as a risk factor. Systemic corticosteroids should be part of the medical treatment and dexamethasone was the drug of choice. No consensus was achieved regarding dosage of corticosteroids, although endoscopic findings help defining dosage and length of treatment. Non-invasive ventilation, laryngeal rest, and use of comfort sedation scales were recommended. Indications for microlaryngoscopy and bronchoscopy under anesthesia were symptoms progression or failure to improve after the first 72-h of medical treatment post-extubation, after two failed extubations, and/or suspicion of severe lesions on flexible fiberoptic laryngoscopy.

Conclusions

Management of post-extubation laryngitis is challenging and can be facilitated by a multidisciplinary approach. Airway endoscopy is mandatory and impacts decision-making, although there is no consensus regarding dosage and length of treatment.

目的 就有或无其他合并症的儿童拔管后喉炎(PEL)的诊断和治疗提出建议。方法 采用三迭代改良德尔菲法。招募了代表儿科耳鼻喉科医生、儿科和新生儿重症监护医生的专家。问题和陈述涉及的主题包括定义、诊断、内窥镜气道评估、风险因素、合并症、管理和随访。结果走廊被认为是最常见的症状,建议进行气道内窥镜检查以明确诊断。胃食管反流和既往插管史被认为是风险因素。插管的具体时间长短并未作为风险因素达成共识。全身性皮质类固醇应作为药物治疗的一部分,地塞米松是首选药物。虽然内窥镜检查结果有助于确定皮质类固醇的剂量和治疗时间,但在剂量方面并未达成共识。建议使用无创通气、喉部休息和舒适镇静量表。在麻醉状态下进行显微喉镜和支气管镜检查的指征是:在拔管后72小时的药物治疗后、在两次拔管失败后、和/或在柔性纤维喉镜检查中怀疑有严重病变,症状仍在发展或没有改善。气道内窥镜检查是强制性的,会对决策产生影响,但在治疗剂量和疗程方面尚未达成共识。
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引用次数: 0
A non-traditional endoscopic approach to laryngeal schwannoma 喉分裂瘤的非传统内窥镜治疗方法
IF 2.2 4区 医学 Q2 OTORHINOLARYNGOLOGY Pub Date : 2024-02-22 DOI: 10.1016/j.bjorl.2024.101400
Petru Gurău
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引用次数: 0
New variants of ALMS1 gene and familial Alström syndrome case series ALMS1 基因的新变异和家族性阿尔斯特罗姆综合征病例系列
IF 2.2 4区 医学 Q2 OTORHINOLARYNGOLOGY Pub Date : 2024-02-22 DOI: 10.1016/j.bjorl.2024.101402
Isabela Carvalho de Queiroz, Natália Carasek, Luiza Costa Villela Ferreira, Lucas Alves Teixeira Oliveira, Fernando Massa Correia, Thaís Gomes Abrahão Elias, Fayez Bahmad Jr

Objectives

To report two new variants of ALMS1 gene and to discuss the audiological evolution and clinical phenotype in two pairs of siblings with Alström syndrome.

Report

This paper is a multi-disciplinary diagnostic evaluation, with genetic and audiological analysis that aims to report two new variants of the ALMS1 gene and to discuss the audiological evolution and clinical phenotype in a case series of patients with familial Alström syndrome. Therefore, we describe 4 cases presenting a complete audiometric profile of two pairs of unrelated siblings, to provide a better understanding of this very rare disease. Additionally, the present study identified two heterozygous mutations in the ALMS1 gene.

Conclusion

This Clinical Capsule Report highlights the importance of audiological monitoring throughout the development of patients with Alström syndrome. The two variants found were not previously reported in the literature, which expands the spectrum of ALMS1 variants in Alström syndrome.

目的报告 ALMS1 基因的两个新变体,并讨论两对阿尔斯特罗姆综合征兄妹的听力学演变和临床表型。报告本文是一项多学科诊断评估,包括遗传学和听力学分析,旨在报告 ALMS1 基因的两个新变体,并讨论家族性阿尔斯特罗姆综合征患者的听力学演变和临床表型。因此,我们描述了 4 个病例,这 4 个病例是两对无血缘关系的同胞兄弟姐妹的完整听力学特征,目的是让人们更好地了解这种非常罕见的疾病。此外,本研究还发现了 ALMS1 基因中的两个杂合突变。结论本临床胶囊报告强调了在阿尔斯特罗姆综合征患者的整个成长过程中进行听力监测的重要性。发现的这两个变异以前未在文献中报道过,这扩大了阿尔斯特罗姆综合征 ALMS1 变异的范围。
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引用次数: 0
期刊
Brazilian Journal of Otorhinolaryngology
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