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Moving past the usual suspects: a new framework for aural fullness 超越了通常的怀疑:听觉丰满的新框架
IF 1.8 4区 医学 Q2 OTORHINOLARYNGOLOGY Pub Date : 2026-05-01 Epub Date: 2026-01-29 DOI: 10.1016/j.bjorl.2026.101767
Roseli Saraiva Moreira Bittar , Lucas Resende Lucinda Mangia , Raquel Mezzalira
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引用次数: 0
Is there any relationship between the menopause transition and dizziness? 更年期过渡和头晕之间有什么关系吗?
IF 1.8 4区 医学 Q2 OTORHINOLARYNGOLOGY Pub Date : 2026-05-01 Epub Date: 2026-02-05 DOI: 10.1016/j.bjorl.2026.101763
Lucas Resende Lucinda Mangia , Roseli Saraiva Moreira Bittar

Objectives

This review aims to study the impact of menopause transition on the vestibular system.

Methods

A broad systematic search of biomedical databases was performed. Papers investigating the effects of changes in female sex hormones on the vestibular physiology or the relationship between these changes in midlife women and vestibular manifestations were reviewed. Data from basic science, epidemiological studies and clinical investigations were organized and elaborated. The authors also addressed the gaps and limitations of current literature.

Results

Hormonal modifications during menopause transition seem to affect the vestibular system. Accordingly, epidemiological investigations describe a remarkable prevalence of vestibular disorders in climacteric women. However, clinical studies exploring this relationship are scarce, and little is known about the clinical and pathophysiological aspects of these diseases. The predisposition to vestibular disturbances during the menopause transition might be the result of an intricate combination of hormonal effects in the nervous system. These effects encompass changes in energy metabolism, immune and inflammatory regulation, modulation of several neurotransmitter systems, integrity of microcirculation and neuroprotection and neuroplasticity pathways. As a result, structural consequences within the inner ear, changes in the transduction and modulation of peripheral signals and dysregulation of central vestibular circuits may occur. Additionally, patients may present with signs of disturbances in sensory processing or difficulties in recovering from functional damages to the vestibular system. These events may contribute to the manifestation of individual vulnerabilities, causing sensory complaints, and the onset or worsening of vestibular problems. Preliminary data also corroborate the impact of menopause transition in specific vestibular diseases.

Conclusion

There is a theoretical basis for understanding the menopause transition as a facilitating condition for vestibular symptoms and diseases. However, clinical studies addressing these issues are scarce. Exploring them is a promising field of investigation that could lead to improvement in care for vestibular patients.
目的:探讨绝经过渡期对前庭系统的影响。方法:对生物医学数据库进行广泛系统的检索。本文综述了有关女性性激素变化对中年女性前庭生理的影响以及这些变化与前庭表现之间关系的研究。对基础科学、流行病学研究和临床调查的数据进行了整理和阐述。作者还讨论了当前文献的差距和局限性。结果:绝经过渡期的激素变化似乎影响前庭系统。因此,流行病学调查描述了绝经期妇女前庭疾病的显著患病率。然而,探索这种关系的临床研究很少,对这些疾病的临床和病理生理方面知之甚少。绝经期前庭功能紊乱的易感性可能是神经系统中激素作用复杂组合的结果。这些影响包括能量代谢、免疫和炎症调节、几种神经递质系统的调节、微循环和神经保护的完整性以及神经可塑性途径的变化。因此,内耳内的结构性后果,外周信号的转导和调节的变化以及中央前庭电路的失调可能会发生。此外,患者可能出现感觉处理障碍或前庭系统功能损伤恢复困难的迹象。这些事件可能导致个体脆弱的表现,引起感觉抱怨,以及前庭问题的发生或恶化。初步数据也证实了更年期过渡对特定前庭疾病的影响。结论:更年期是前庭症状和疾病的促进条件,有一定的理论基础。然而,解决这些问题的临床研究很少。探索它们是一个有前途的研究领域,可以改善前庭病人的护理。
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引用次数: 0
Lipoma in the hypopharynx: a case report 下咽脂肪瘤1例
IF 1.8 4区 医学 Q2 OTORHINOLARYNGOLOGY Pub Date : 2026-05-01 Epub Date: 2026-01-29 DOI: 10.1016/j.bjorl.2026.101764
Diego Guzman Rodrigues , Rynat Dasaev Oliveira Chagas , Natália Matos Muricy , Raissa Damasceno Barreto da Silva
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引用次数: 0
Experience of comprehensive sequential therapy for salivary duct carcinoma with HER2 gene amplification: a case report 综合序贯治疗涎腺管癌合并HER2基因扩增1例。
IF 1.8 4区 医学 Q2 OTORHINOLARYNGOLOGY Pub Date : 2026-05-01 Epub Date: 2026-02-06 DOI: 10.1016/j.bjorl.2026.101765
Yu Zhang , Chenke Wei , Wei Shang , Zongxuan He
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引用次数: 0
Epistaxis kit ‒ a standardized approach to optimize emergency care. 鼻出血工具包-标准化的方法,以优化紧急护理。
IF 1.8 4区 医学 Q2 OTORHINOLARYNGOLOGY Pub Date : 2026-03-19 DOI: 10.1016/j.bjorl.2026.101782
Luciano Lobato Gregorio, Eduardo Macoto Kosugi
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引用次数: 0
Tomographic assessment of anatomical boundaries in endoscopic frontal sinusotomy: retrospective radiologic analysis of Draf IIA and IIB approaches. 内镜额窦切开术解剖边界的断层扫描评估:IIA和IIB入路的回顾性放射学分析。
IF 1.8 4区 医学 Q2 OTORHINOLARYNGOLOGY Pub Date : 2026-03-19 DOI: 10.1016/j.bjorl.2026.101787
Paulo José da Costa Mariz Neto, Camila de Santa Cruz Souza, Matheus Dorigatti Soldatelli, Rainer Guilherme Haetinger, Eduardo Macoto Kosugi, Thiago Freire Pinto Bezerra

Objectives: The aim of this study was to evaluate the anatomical dimensions and boundaries involved in Draf IIA (DIIA) and Draf IIB (DIIB) frontal sinusotomies, and to determine how complete frontal beak removal affects the frontal sinus drainage pathway. Specifically, we compared the proportional increase in drainage area between DIIA and DIIB performed with and without complete frontal beak removal.

Methods: This retrospective radiological anatomical study analyzed 296 hemifaces (from 148 patients) who underwent paranasal sinus Computed Tomography (CT). Individuals over 18-years of age without evidence of paranasal sinus disease were included. We measured the anatomical distances defining the frontal recess and estimated the differences in frontal recess area for three approaches: Draf type IIA (DIIA), Draf type IIB without complete removal of the frontal beak (DIIBwoFB), and Draf type IIB with complete removal of the frontal beak (DIIB).

Results: The measured areas of the frontal ostium were as follows: 59.00 ± 24.34 mm2 (range: 0.55-160.00) for DIIA, 79.66 ± 30.29 mm2 (range: 0.85-200.00) for DIIBwoFB, and 147.00 ± 35.25 mm2 (range: 71.47-282.74) for DIIB. The proportional increase in drainage area was significantly higher when comparing DIIA to DIIB than to DIIBwoFB (3.64 ± 14.37 [range: 2.52-248.40] vs. 1.37 ± 0.18 [range: 1.00-2.64], respectively).

Conclusion: Among the evaluated surgical approaches, the greatest proportional increase in anatomical drainage area was achieved with Draf IIB combined with complete frontal beak removal. These findings underscore the importance of frontal beak resection when considering the Draf IIB approach.

Level of evidence: IV.

目的:本研究的目的是评估草稿IIA (DIIA)和草稿IIB (DIIB)额窦切开术涉及的解剖尺寸和边界,并确定完全去除额喙对额窦引流通路的影响。具体来说,我们比较了DIIA和DIIB在完全切除和不切除额喙时引流面积的比例增加。方法:回顾性分析148例接受鼻窦计算机断层扫描(CT)患者的296个半面。年龄超过18岁且无鼻窦疾病证据的个体被纳入研究。我们测量了定义额隐窝的解剖距离,并估计了三种入路的额隐窝面积差异:draft type IIA (DIIA)、draft type IIB不完全去除额喙(DIIBwoFB)和draft type IIB完全去除额喙(DIIB)。结果:DIIA的额骨口测量面积为59.00±24.34 mm2(范围:0.55 ~ 160.00),DIIBwoFB为79.66±30.29 mm2(范围:0.85 ~ 200.00),DIIB为147.00±35.25 mm2(范围:71.47 ~ 282.74)。DIIA与DIIB相比,引流面积的比例增加明显高于DIIBwoFB(分别为3.64±14.37[范围:2.52-248.40]和1.37±0.18[范围:1.00-2.64])。结论:在所评估的手术入路中,draft IIB联合完全切除额喙的手术入路的解剖引流面积比例增加最大。这些发现强调了当考虑草案IIB入路时,额喙切除的重要性。证据等级:四级。
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引用次数: 0
Comparison of utility measures and auditory performance in children with cochlear implants and hearing aids in India: a cross-sectional study. 印度使用人工耳蜗和助听器的儿童的效用测量和听觉表现的比较:一项横断面研究。
IF 1.8 4区 医学 Q2 OTORHINOLARYNGOLOGY Pub Date : 2026-03-18 DOI: 10.1016/j.bjorl.2026.101776
Anuradha Sharma, Shankar Prinja, Ravinder Thakur, Rajwinder Kaur, Sanjay Munjal, Jaimanti Bakshi

Objectives: Hearing loss significantly impacts auditory function and quality of life in children. Assessing Health-Related Quality of Life (HRQoL) using utility measures provides valuable insight into the effectiveness of interventions such as Cochlear Implants (CI) and Hearing Aids (HA). To compare HRQoL using multiple utility measures (HUI-3, EQ-5D-5 L, VAS) and functional auditory performance (PEACH, TEACH) in children with cochlear implants, hearing aids, and unaided severe to profound hearing loss.

Methods: Ninety children aged 7-10 years were divided into three groups (n = 30 each): CI users, HA users, and children with unaided severe to profound hearing loss. Utility measures and auditory performance scales were administered. Statistical analysis involved ANOVA and Pearson's correlation.

Results: CI users exhibited the highest utility scores (HUI-3 = 0.68964; EQ-5D = 0.88446) and auditory performance scores (PEACH = 37; TEACH = 25.83). Strong correlations were found between utility scores and auditory performance. HUI-3 showed greater sensitivity in detecting hearing-specific QOL improvements.

Conclusion: Cochlear implantation results in superior HRQoL and auditory performance compared to hearing aids. Use of sensitive, hearing-specific tools like HUI-3 is recommended. LEVEL 3: Non-randomized controlled cohort/follow-up study.

目的:听力损失显著影响儿童的听觉功能和生活质量。使用效用测量评估健康相关生活质量(HRQoL)为人工耳蜗(CI)和助听器(HA)等干预措施的有效性提供了有价值的见解。比较人工耳蜗、助听器和非辅助重度至重度听力损失儿童的HRQoL和功能性听觉表现(PEACH、TEACH)。方法:90例7 ~ 10岁儿童分为三组(每组30例):CI使用者、HA使用者和单纯重度至重度听力损失儿童。使用效用测量和听觉表现量表。统计分析采用方差分析和Pearson相关分析。结果:CI用户表现出最高的效用得分(HUI-3 = 0.68964; EQ-5D = 0.88446)和听觉表现得分(PEACH = 37; TEACH = 25.83)。在效用得分和听觉表现之间发现了很强的相关性。HUI-3在检测听力特异性生活质量改善方面表现出更高的敏感性。结论:人工耳蜗植入术患者的HRQoL和听觉表现优于助听器。建议使用敏感的听力专用工具,如HUI-3。LEVEL 3:非随机对照队列/随访研究。
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引用次数: 0
Elevated S100A8 in nasal mucosa correlates with epithelial barrier dysfunction in allergic rhinitis. 变应性鼻炎患者鼻黏膜S100A8升高与上皮屏障功能障碍相关。
IF 1.8 4区 医学 Q2 OTORHINOLARYNGOLOGY Pub Date : 2026-03-18 DOI: 10.1016/j.bjorl.2026.101800
Xiaocong Deng, Di Wu, Zhenlin Cai, Yong Qian

Objective: Epithelial barrier dysfunction is central to the pathogenesis of Allergic Rhinitis (AR), yet its molecular mechanisms remain unclear. S100A8 is implicated in epithelial barrier disruption, but its role in AR is not fully understood. This study aimed to investigate S100A8 expression in AR and its association with barrier dysfunction.

Methods: Nasal mucosal tissues were collected from 30 AR patients and 30 Healthy Controls (HCs). Expression levels of S100A8 and tight junction proteins (ZO-1, E-cadherin, occludin) were assessed by Immunofluorescence (IF), Western Blot (WB), and RT-qPCR. Correlation analysis was performed to evaluate the relationship between S100A8 and tight junction markers. Human Nasal Epithelial Cells (HNECs) from HCs were stimulated with House Dust Mite (HDM) extracts, and S100A8 expression was silenced using siRNA to assess its role in HDM-induced barrier disruption.

Results: WB and RT-qPCR results showed that the expression of S100A8 was significantly enhanced in nasal mucosal samples of AR patients compared to the HC group. S100A8 mRNA level was significantly elevated, and its level was positively correlated with the Visual Analog Scores (VAS) and total nasal symptom scores (TNSS) of the patients. Moreover, IF further confirmed that S100A8 was enhanced in the AR group, and mainly localised in the nasal epithelium. The expression of ZO-1, E-cadherin, and occludin was markedly reduced in AR patients and showed a negative correlation with S100A8 levels. In vitro, HDM stimulation of HNECs led to a dose- and time-dependent increase in S100A8 expression, along with reduced levels of tight junction proteins. Silencing S100A8 via siRNA significantly restored tight junction protein expression, indicating that S100A8 inhibition may help preserve nasal epithelial barrier integrity.

Conclusion: S100A8 is upregulated in AR and associated with disease severity and epithelial barrier dysfunction. Targeting S100A8 may offer a therapeutic strategy to preserve nasal barrier integrity in AR.

Level of evidence: Level 3.

目的:上皮屏障功能障碍是变应性鼻炎(AR)发病的核心,但其分子机制尚不清楚。S100A8与上皮屏障破坏有关,但其在AR中的作用尚不完全清楚。本研究旨在探讨S100A8在AR中的表达及其与屏障功能障碍的关系。方法:收集30例AR患者和30例健康对照者的鼻黏膜组织。免疫荧光(IF)、Western Blot (WB)和RT-qPCR检测S100A8和紧密连接蛋白(ZO-1、E-cadherin、occludin)的表达水平。通过相关分析评价S100A8与紧密结标记的关系。用屋尘螨(HDM)提取物刺激HCs的人鼻上皮细胞(HNECs),使用siRNA沉默S100A8的表达,以评估其在HDM诱导的屏障破坏中的作用。结果:WB和RT-qPCR结果显示,与HC组相比,AR患者鼻黏膜样品中S100A8的表达明显增强。S100A8 mRNA水平显著升高,其水平与患者的视觉模拟评分(VAS)和总鼻症状评分(TNSS)呈正相关。此外,IF进一步证实,S100A8在AR组增强,且主要定位于鼻上皮。AR患者ZO-1、E-cadherin、occludin的表达明显降低,且与S100A8水平呈负相关。在体外,HDM刺激HNECs导致S100A8表达呈剂量和时间依赖性增加,同时紧密连接蛋白水平降低。通过siRNA沉默S100A8可显著恢复紧密连接蛋白的表达,表明抑制S100A8可能有助于保持鼻上皮屏障的完整性。结论:S100A8在AR中表达上调,并与疾病严重程度和上皮屏障功能障碍相关。靶向S100A8可能提供一种治疗策略,以保持ar的鼻屏障完整性。证据水平:3级。
{"title":"Elevated S100A8 in nasal mucosa correlates with epithelial barrier dysfunction in allergic rhinitis.","authors":"Xiaocong Deng, Di Wu, Zhenlin Cai, Yong Qian","doi":"10.1016/j.bjorl.2026.101800","DOIUrl":"https://doi.org/10.1016/j.bjorl.2026.101800","url":null,"abstract":"<p><strong>Objective: </strong>Epithelial barrier dysfunction is central to the pathogenesis of Allergic Rhinitis (AR), yet its molecular mechanisms remain unclear. S100A8 is implicated in epithelial barrier disruption, but its role in AR is not fully understood. This study aimed to investigate S100A8 expression in AR and its association with barrier dysfunction.</p><p><strong>Methods: </strong>Nasal mucosal tissues were collected from 30 AR patients and 30 Healthy Controls (HCs). Expression levels of S100A8 and tight junction proteins (ZO-1, E-cadherin, occludin) were assessed by Immunofluorescence (IF), Western Blot (WB), and RT-qPCR. Correlation analysis was performed to evaluate the relationship between S100A8 and tight junction markers. Human Nasal Epithelial Cells (HNECs) from HCs were stimulated with House Dust Mite (HDM) extracts, and S100A8 expression was silenced using siRNA to assess its role in HDM-induced barrier disruption.</p><p><strong>Results: </strong>WB and RT-qPCR results showed that the expression of S100A8 was significantly enhanced in nasal mucosal samples of AR patients compared to the HC group. S100A8 mRNA level was significantly elevated, and its level was positively correlated with the Visual Analog Scores (VAS) and total nasal symptom scores (TNSS) of the patients. Moreover, IF further confirmed that S100A8 was enhanced in the AR group, and mainly localised in the nasal epithelium. The expression of ZO-1, E-cadherin, and occludin was markedly reduced in AR patients and showed a negative correlation with S100A8 levels. In vitro, HDM stimulation of HNECs led to a dose- and time-dependent increase in S100A8 expression, along with reduced levels of tight junction proteins. Silencing S100A8 via siRNA significantly restored tight junction protein expression, indicating that S100A8 inhibition may help preserve nasal epithelial barrier integrity.</p><p><strong>Conclusion: </strong>S100A8 is upregulated in AR and associated with disease severity and epithelial barrier dysfunction. Targeting S100A8 may offer a therapeutic strategy to preserve nasal barrier integrity in AR.</p><p><strong>Level of evidence: </strong>Level 3.</p>","PeriodicalId":49099,"journal":{"name":"Brazilian Journal of Otorhinolaryngology","volume":"92 3","pages":"101800"},"PeriodicalIF":1.8,"publicationDate":"2026-03-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147488147","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
Neurodegeneration of the mastoid segment of the human facial nerve associated with senescence. 人类面神经乳突节的神经退行性变与衰老有关。
IF 1.8 4区 医学 Q2 OTORHINOLARYNGOLOGY Pub Date : 2026-03-18 DOI: 10.1016/j.bjorl.2026.101784
Ivam Luiz Mariano Rocha, Joel Lavinsky, Mateus Belmonte Macedo, Adriana Ubirajara Silva Petry, Taís Malysz

Objective: To describe and analyze the microscopic morphometry of the mastoid segment of the human facial nerve in the region of the stylomastoid foramen, in different age groups of elderly individuals.

Methods: Eighteen blocks of temporal bones from cadavers aged between 63 and 94 years old were used and divided into 3 age groups: 60-70, 71-80 and over 80-years-old. The nerve was collected, fixed in a glutaraldehyde and paraformaldehyde solution and then subjected to dehydration and resin embedding processes. Semi-thin cross-sectional sections (1 μm) were obtained using an ultramicrotome and stained with toluidine blue. Histological images were captured and analyzed using Zen 2.6 software. The variables were described by mean and standard deviation and compared between age groups (SPSS; p < 0.05).

Results: The Cross-Sectional Area (CSA) of the nerve, diameter of the myelinated fiber, CSA of the myelinated fiber, thickness of the myelin sheath and percentage of total area occupied by myelinated fibers were lower in the groups with older ages, with significant differences among all age groups (p < 0.001). The total number of myelinated fibers and density remained constant and did not present significant differences between age groups. CSA and axon diameter decreased at older ages, with significant differences only between the second and third groups (p < 0.001). The degree of myelination (g ratio) and the percentage of area occupied by the endoneurium, unmyelinated fibers and degenerating tissue were higher in the older age groups (p < 0.001). In the older age groups, there was an increase in the percentage of myelinated fibers with lower CSA and a reduction in the percentage of myelinated fibers with higher CSA.

Conclusion: The results indicate that the facial nerve presents morphometric variations suggestive of neurodegeneration, associated with aging.

Level of evidence: Level V.

目的:描述和分析不同年龄组老年人面神经茎突乳突孔区域乳突节段的显微形态。方法:选取63 ~ 94岁尸体颞骨18块,分为60 ~ 70岁、71 ~ 80岁和80岁以上3组。收集神经,在戊二醛和多聚甲醛溶液中固定,然后进行脱水和树脂包埋。采用超微切片法获得半薄截面(1 μm),并用甲苯胺蓝染色。采用Zen 2.6软件采集组织学图像并进行分析。变量用均值和标准差描述,并在年龄组之间进行比较(SPSS;p结果:神经的横截面积(CSA)、有髓纤维直径、有髓纤维的CSA、髓鞘厚度和有髓纤维占总面积的百分比在年龄越大越低,且各年龄组间差异有统计学意义(p结论:结果提示面神经出现神经退行性变化,与年龄有关。证据等级:V级。
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引用次数: 0
Identification of hypoxia-related gene signatures and molecular subtypes in chronic rhinosinusitis with nasal polyps. 慢性鼻窦炎伴鼻息肉患者缺氧相关基因特征和分子亚型的鉴定。
IF 1.8 4区 医学 Q2 OTORHINOLARYNGOLOGY Pub Date : 2026-03-18 DOI: 10.1016/j.bjorl.2026.101788
Lulu Song, Shican Zhou, Lili Wang, Ju Lai, Shiwang Tan, Chunyan Yao, Shaoqing Yu

Objectives: Chronic Rhinosinusitis with Nasal Polyps (CRSwNP) is a common and severe subtype of Chronic Rhinosinusitis (CRS), characterized by persistent inflammation and tissue remodeling in the nasal cavity. Hypoxia, resulting from chronic inflammation, is believed to play a pivotal role in CRSwNP pathogenesis. This study aims to identify Hypoxia-Related Genes (HRGs) involved in CRSwNP and explore their potential as diagnostic biomarkers and therapeutic targets.

Methods: We retrieved transcriptomic datasets (GSE136825 and GSE179265) from the Gene Expression Omnibus (GEO) database. Differential expression analysis was conducted to identify Hypoxia-Related Differentially Expressed Genes (HRG-DEGs) in CRSwNP. Machine learning techniques, including Least Absolute Shrinkage and Selection Operator (LASSO) regression and random forest, were employed to identify key HRGs. Validation of these genes was performed using qRT-PCR on clinical CRSwNP and control tissue samples. Additionally, consensus clustering analysis was applied to categorize CRSwNP patients into different molecular subtypes based on HRG expression, followed by gene ontology (GO) enrichment and immune infiltration analysis.

Results: A total of 19 hypoxia-related Differentially Expressed Genes (DEGs) were identified. Through LASSO regression and Random Forest analysis, followed by validation using an external dataset and qRT-PCR of clinical samples, four hypoxia-related hub genes ‒ CXCR4, HMOX1, DTNA, and FBP1 ‒ were identified. Receiver Operating Characteristic (ROC) curve analysis demonstrated that all four genes had Area Under the Curve (AUC) values exceeding 0.8. Additionally, consensus clustering revealed two distinct clusters with different hypoxia characteristics.

Conclusion: This study identifies four key hypoxia-related genes (CXCR4, HMOX1, DTNA, and FBP1) that may serve as novel diagnostic biomarkers for CRSwNP. The molecular subtypes identified through clustering provide further insights into CRSwNP heterogeneity, suggesting the need for personalized treatment approaches targeting hypoxia-related pathways.

目的:慢性鼻窦炎伴鼻息肉(CRSwNP)是慢性鼻窦炎(CRS)的一种常见且严重的亚型,其特征是鼻腔持续炎症和组织重塑。慢性炎症引起的缺氧被认为在CRSwNP发病机制中起关键作用。本研究旨在鉴定参与CRSwNP的缺氧相关基因(HRGs),并探索其作为诊断生物标志物和治疗靶点的潜力。方法:从Gene Expression Omnibus (GEO)数据库中检索转录组数据集GSE136825和GSE179265。通过差异表达分析鉴定CRSwNP中缺氧相关差异表达基因(HRG-DEGs)。机器学习技术,包括最小绝对收缩和选择算子(LASSO)回归和随机森林,被用来识别关键的hrg。在临床CRSwNP和对照组织样本上使用qRT-PCR对这些基因进行验证。此外,采用共识聚类分析,基于HRG表达将CRSwNP患者分为不同的分子亚型,然后进行基因本体(GO)富集和免疫浸润分析。结果:共鉴定出19个与缺氧相关的差异表达基因(DEGs)。通过LASSO回归和随机森林分析,然后使用外部数据集和临床样本的qRT-PCR验证,鉴定出4个与缺氧相关的中心基因- CXCR4, HMOX1, DTNA和FBP1。受试者工作特征(ROC)曲线分析显示,4个基因的曲线下面积(Area Under the curve, AUC)均大于0.8。此外,共识聚类还揭示了两个具有不同缺氧特征的不同聚类。结论:本研究确定了四个关键的缺氧相关基因(CXCR4、HMOX1、DTNA和FBP1),可能作为CRSwNP的新的诊断生物标志物。通过聚类鉴定的分子亚型进一步揭示了CRSwNP的异质性,提示需要针对缺氧相关通路的个性化治疗方法。
{"title":"Identification of hypoxia-related gene signatures and molecular subtypes in chronic rhinosinusitis with nasal polyps.","authors":"Lulu Song, Shican Zhou, Lili Wang, Ju Lai, Shiwang Tan, Chunyan Yao, Shaoqing Yu","doi":"10.1016/j.bjorl.2026.101788","DOIUrl":"https://doi.org/10.1016/j.bjorl.2026.101788","url":null,"abstract":"<p><strong>Objectives: </strong>Chronic Rhinosinusitis with Nasal Polyps (CRSwNP) is a common and severe subtype of Chronic Rhinosinusitis (CRS), characterized by persistent inflammation and tissue remodeling in the nasal cavity. Hypoxia, resulting from chronic inflammation, is believed to play a pivotal role in CRSwNP pathogenesis. This study aims to identify Hypoxia-Related Genes (HRGs) involved in CRSwNP and explore their potential as diagnostic biomarkers and therapeutic targets.</p><p><strong>Methods: </strong>We retrieved transcriptomic datasets (GSE136825 and GSE179265) from the Gene Expression Omnibus (GEO) database. Differential expression analysis was conducted to identify Hypoxia-Related Differentially Expressed Genes (HRG-DEGs) in CRSwNP. Machine learning techniques, including Least Absolute Shrinkage and Selection Operator (LASSO) regression and random forest, were employed to identify key HRGs. Validation of these genes was performed using qRT-PCR on clinical CRSwNP and control tissue samples. Additionally, consensus clustering analysis was applied to categorize CRSwNP patients into different molecular subtypes based on HRG expression, followed by gene ontology (GO) enrichment and immune infiltration analysis.</p><p><strong>Results: </strong>A total of 19 hypoxia-related Differentially Expressed Genes (DEGs) were identified. Through LASSO regression and Random Forest analysis, followed by validation using an external dataset and qRT-PCR of clinical samples, four hypoxia-related hub genes ‒ CXCR4, HMOX1, DTNA, and FBP1 ‒ were identified. Receiver Operating Characteristic (ROC) curve analysis demonstrated that all four genes had Area Under the Curve (AUC) values exceeding 0.8. Additionally, consensus clustering revealed two distinct clusters with different hypoxia characteristics.</p><p><strong>Conclusion: </strong>This study identifies four key hypoxia-related genes (CXCR4, HMOX1, DTNA, and FBP1) that may serve as novel diagnostic biomarkers for CRSwNP. The molecular subtypes identified through clustering provide further insights into CRSwNP heterogeneity, suggesting the need for personalized treatment approaches targeting hypoxia-related pathways.</p>","PeriodicalId":49099,"journal":{"name":"Brazilian Journal of Otorhinolaryngology","volume":"92 3","pages":"101788"},"PeriodicalIF":1.8,"publicationDate":"2026-03-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147488175","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
期刊
Brazilian Journal of Otorhinolaryngology
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