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Alterations of gut microbiome in chronic rhinosinusitis: insights from a mendelian randomization study 慢性鼻窦炎患者肠道微生物组的改变:来自孟德尔随机研究的见解
IF 1.8 4区 医学 Q2 OTORHINOLARYNGOLOGY Pub Date : 2025-09-20 DOI: 10.1016/j.bjorl.2025.101698
Ke-Shuang Wang , Jun-Hao Tu , Qian-Xing Wang , Sui-Zi Zhou , Jia-Rong Wu , Qian-Hui Qiu

Objective

Gut microbiome dysbiosis is associated with various diseases. Causal association between Chronic Rhinosinusitis (CRS) and gut microbiome is yet unknown. This study aimed to investigate the potential causal relationship between CRS and gut microbiome dysbiosis.

Methods

We used Genome-Wide Association Study (GWAS) data from FinnGen database for CRS. The Dutch Microbiome Project study provided data on gut microbiota species. A total of 334,182 individuals were included. Two-sample bidirectional Mendelian Randomization (MR) analysis was used to investigate causal relationship between CRS and gut microbiome. The main methods of evaluation were Inverse Variance Weighting (IVW), weighted median, weighted mode, and MR-Egger regression. Sensitivity analyses were performed to assess heterogeneity and pleiotropy.

Results

Forward MR analysis indicated CRS is potentially linked to decreased risk of Haemophilus parainfluenzae (OR = 0.79, 95% CI 0.66‒0.94, p = 0.009) and increased risk of Bilophila’s (OR = 1.14, 95% CI 1.02–1.27, p = 0.023) within the gut. Reduced risks in gut microbiota-related pathways like UDP-N-acetyl-d-glucosamine biosynthesis I (OR = 0.85, 95% CI 0.77‒0.94, p = 0.002) and increased risk in pathway NAD biosynthesis I from aspartate (OR = 1.14, 95% CI 1.03–1.27, p = 0.010) were also linked to CRS. Reverse MR analyses, we obtained no positive results (p > 0.05/412).

Conclusion

This study reveals CRS exerts a causal impact on shifts within the composition of the gut microbiome and also links to the changes of gut microbiota-related metabolic pathways. The risk of changes in gut microbiota should be of greater concern in patients with CRS than in the general population.

Level of evidence

Mendelian Randomized (MR) studies are second only to randomized controlled trials in terms of the level of evidence.
目的肠道菌群失调与多种疾病有关。慢性鼻窦炎(CRS)与肠道微生物群之间的因果关系尚不清楚。本研究旨在探讨CRS与肠道微生物群失调之间的潜在因果关系。方法采用FinnGen数据库的全基因组关联研究(GWAS)数据进行CRS研究。荷兰微生物组项目研究提供了肠道菌群种类的数据。共纳入334182人。采用双样本双向孟德尔随机化(MR)分析研究CRS与肠道微生物组的因果关系。评价方法主要有方差反加权法(IVW)、加权中位数法、加权模式法和MR-Egger回归法。进行敏感性分析以评估异质性和多效性。结果前瞻性磁共振分析显示,CRS可能与肠道内副流感嗜血杆菌风险降低(OR = 0.79, 95% CI 0.66-0.94, p = 0.009)和嗜血杆菌风险增加(OR = 1.14, 95% CI 1.02-1.27, p = 0.023)有关。肠道菌群相关途径如udp - n -乙酰-d-葡萄糖胺生物合成I的风险降低(OR = 0.85, 95% CI 0.77-0.94, p = 0.002)和天冬氨酸NAD生物合成I途径的风险增加(OR = 1.14, 95% CI 1.03-1.27, p = 0.010)也与CRS有关。反向MR分析,我们没有得到阳性结果(p > 0.05/412)。结论CRS对肠道菌群组成的变化具有因果影响,并与肠道菌群相关代谢途径的变化有关。CRS患者肠道菌群变化的风险应比一般人群更值得关注。证据水平就证据水平而言,孟德尔随机(MR)研究仅次于随机对照试验。
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引用次数: 0
Analysis on the plane and mechanism of tongue-originated obstruction in Obstructive Sleep Apnea Syndrome (OSAS) patients with macroglossia 阻塞性睡眠呼吸暂停综合征(OSAS)伴大舌障碍患者舌源性梗阻的平面及机制分析
IF 1.8 4区 医学 Q2 OTORHINOLARYNGOLOGY Pub Date : 2025-09-13 DOI: 10.1016/j.bjorl.2025.101709
Min Huang , Guohao Chen

Objective

To investigate the plane and related mechanisms of tongue-originated obstruction in Obstructive Sleep Apnea Syndrome (OSAS) patients with macroglossia, utilizing pharyngeal Magnetic Resonance Imaging (MRI) in combination with Upper Airway Pressure Monitoring (UAPM).

Methods

Nineteen OSAS patients with macroglossia and 19 healthy controls were enrolled in this study. Every case was examined by pharyngeal MRI and Polysomnogram (PSG). The minimum Retropalatal Space (RP), the minimum Retrolingual Space (RL), soft palate thickness and the minimum space from the dorsal tongue to the soft palate (TP) were measured on a midsagittal plane. UAPM was measured only in the OSAS group. The differences of results between groups were statistically analyzed.

Results

Both UAPM and pharyngeal MRI indicated that the obstruction plane was present in patients with OSAS along the velopharyngeal plane. The mean values of both RP and RP/RL of patients with OSAS in this study were significantly smaller than control group values (p < 0.05). There was no significant difference in RL and soft palate thickness across the two groups (p > 0.05). The value of TP in both groups was close to 0, showing no significant difference between groups (p > 0.05).

Conclusions

The velopharyngeal plane was the most common site demonstrating obstructive etiology in OSAS patients with macroglossia. The related mechanism is suspected to include the backward movement of the soft palate caused by the high arch and the fall of the middle segment of the hypertrophic tongue. These findings may inform tongue-related surgical site decision-making for OSAS patients with macroglossia.

Level of evidence

IV: Retrospective cohort study.
目的应用咽磁共振成像(MRI)联合上气道压力监测(UAPM)技术,探讨阻塞性睡眠呼吸暂停综合征(OSAS)伴大舌音患者舌源性梗阻的平面及相关机制。方法选择19例OSAS伴大语言缺失患者和19例健康对照。所有病例均行咽部MRI及多导睡眠图(PSG)检查。在正中矢状面测量最小腭后间距(RP)、最小舌后间距(RL)、软腭厚度和舌背至软腭的最小间距(TP)。仅在OSAS组测量UAPM。对两组结果的差异进行统计学分析。结果UAPM和咽部MRI提示osaas患者沿腭咽平面存在梗阻面。本研究中OSAS患者的RP均值和RP/RL均显著小于对照组(p < 0.05)。两组患者RL、软腭厚度差异无统计学意义(p > 0.05)。两组TP值均接近于0,组间差异无统计学意义(p > 0.05)。结论腭咽平面是osaas伴大舌音患者最常见的梗阻性病因。相关的机制被怀疑包括由高弓引起的软腭向后运动和肥厚舌中部的下降。这些发现可以为伴有大舌症的OSAS患者的舌相关手术部位决策提供参考。证据水平iv:回顾性队列研究。
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引用次数: 0
Competencies in head and neck surgery teaching for specialty residents. Position statement of Brazilian Head and Neck Surgery Society 头颈外科专科住院医师的教学能力。巴西头颈外科学会立场声明
IF 1.8 4区 医学 Q2 OTORHINOLARYNGOLOGY Pub Date : 2025-09-13 DOI: 10.1016/j.bjorl.2025.101710
Rogério Aparecido Dedivitis , Mario Augusto Ferrari de Castro , Fátima Cristina Mendes de Matos , Marianne Yumi Nakai , Leandro Luongo de Matos , Marco Aurélio Vamondes Kulcsar , Carlos Takahiro Chone , Luiz Paulo Kowalski , Fernando Luiz Dias , André Cruz Martins , Bruna Carteiro Silva

Objectives

To standardize the necessary competencies for Head and Neck Surgery residents related to the specialty.

Methods

The Delphi process was employed in its sequential phases: the selection of an expert panel; a structured questionnaire containing a preliminary list of potential competencies; the electronic distribution of the questionnaire to the experts, with options to “maintain”, “remove”, or “modify” the competencies and to suggest the inclusion of new competencies; a second round indicating “agree” or “disagree” for each reformulated or new competency; and the final consensus.

Results

Forty-six competencies were established for Head and Neck Surgery residents in the specialty.

Conclusion

Head and Neck Surgery residents and fellows should be trained in depth for the competency framework encompassing both routine and complex surgical interventions.

Level of evidence

5.
目的规范头颈外科住院医师与本专业相关的必要能力。方法采用德尔菲法,选取专家小组;一份包含潜在能力初步清单的结构化问卷;以电子方式向专家分发调查问卷,选择“保留”、“删除”或“修改”能力,并建议列入新的能力;第二轮对每一个重新表述的或新的能力表示“同意”或“不同意”;最后的共识。结果为头颈外科住院医师建立了46项胜任能力。结论头颈外科住院医师和实习医师应深入学习包括常规和复杂手术干预在内的能力框架。证据水平。
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引用次数: 0
The emerging role of platelet-rich plasma subepithelial infusion for vocal fold scar, sulcus, and atrophy 富血小板血浆上皮下输注在声带瘢痕、沟和萎缩中的新作用
IF 1.8 4区 医学 Q2 OTORHINOLARYNGOLOGY Pub Date : 2025-09-11 DOI: 10.1016/j.bjorl.2025.101716
Gustavo Polacow Korn , Michal M. Johns III
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引用次数: 0
Generative artificial intelligence in otorhinolaryngology: From innovation to public health transformation 耳鼻喉科的生成式人工智能:从创新到公共卫生转型
IF 1.8 4区 医学 Q2 OTORHINOLARYNGOLOGY Pub Date : 2025-09-11 DOI: 10.1016/j.bjorl.2025.101714
Alexandre Vallée
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引用次数: 0
Causal analysis of the impact of serum 25-hydroxyvitamin D levels on laryngeal cancer: A two-sample mendelian randomization study 血清25-羟基维生素D水平对喉癌影响的因果分析:一项双样本孟德尔随机化研究。
IF 1.8 4区 医学 Q2 OTORHINOLARYNGOLOGY Pub Date : 2025-09-10 DOI: 10.1016/j.bjorl.2025.101705
Bo Li , Cuiping She

Objective

The levels of vitamin D in the human body are primarily measured through serum 25-hydroxyvitamin D (25(OH)D) levels. Observational studies suggest a potential association between the incidence of laryngeal cancer and vitamin D levels, but the causality remains unclear. This study aims to investigate the potential causal relationship between vitamin D levels and laryngeal cancer.

Methods

This Mendelian Randomization (MR) study is based on large-scale GWAS (Genome-Wide Association Study) summary datasets. We selected two different datasets of 25(OH)D and conducted two two-sample univariable Mendelian Randomization (MR) analyses. Four different MR methods were applied, and a series of sensitivity analyses were performed. In addition, a two-sample Mendelian randomization was conducted to account for the confounding effect of smoking. Furthermore, we performed GO enrichment analyses on the SNPs used as instrumental variables.

Results

The combined findings from both univariable MR analyses support a potential causal relationship between serum 25(OH)D levels and laryngeal cancer, suggesting that higher levels of vitamin D may have a protective effect against laryngeal cancer. Multivariable MR analysis showed that even after accounting for smoking as a confounding factor, the impact of 25(OH)D on laryngeal cancer remained significant. Enrichment analysis further indicated that 25(OH)D may inhibit the occurrence and progression of laryngeal cancer by regulating the metabolism of exogenous substances, lipid metabolism, and cellular responses to environmental stimuli.

Conclusion

Higher serum 25-hydroxyvitamin D levels serve as a protective factor against laryngeal cancer, suggesting that increasing vitamin D levels may reduce the risk of laryngeal cancer.

Level of evidence

This was a Mendelian randomized study with a level of evidence second only to clinical randomized trials, and higher than cohort and case-control studies.
目的:测定人体内维生素D水平主要是通过血清25-羟基维生素D (25(OH)D)水平。观察性研究表明喉癌发病率与维生素D水平之间存在潜在联系,但因果关系尚不清楚。本研究旨在探讨维生素D水平与喉癌之间的潜在因果关系。方法:这项孟德尔随机化(MR)研究基于大规模GWAS(全基因组关联研究)汇总数据集。我们选择了两个不同的25(OH)D数据集,并进行了两次双样本单变量孟德尔随机化(MR)分析。采用了四种不同的MR方法,并进行了一系列敏感性分析。此外,还进行了双样本孟德尔随机化,以解释吸烟的混杂效应。此外,我们对作为工具变量的SNPs进行了氧化石墨烯富集分析。结果:两项单变量磁共振分析的综合结果支持血清25(OH)D水平与喉癌之间的潜在因果关系,表明较高水平的维生素D可能对喉癌有保护作用。多变量磁共振分析显示,即使将吸烟作为一个混杂因素考虑在内,25(OH)D对喉癌的影响仍然显著。富集分析进一步表明,25(OH)D可能通过调节外源物质代谢、脂质代谢和细胞对环境刺激的反应来抑制喉癌的发生和发展。结论:血清25-羟基维生素D水平升高是预防喉癌的保护因素,提示维生素D水平升高可降低喉癌的发病风险。证据水平:这是一项孟德尔随机研究,证据水平仅次于临床随机试验,高于队列研究和病例对照研究。
{"title":"Causal analysis of the impact of serum 25-hydroxyvitamin D levels on laryngeal cancer: A two-sample mendelian randomization study","authors":"Bo Li ,&nbsp;Cuiping She","doi":"10.1016/j.bjorl.2025.101705","DOIUrl":"10.1016/j.bjorl.2025.101705","url":null,"abstract":"<div><h3>Objective</h3><div>The levels of vitamin D in the human body are primarily measured through serum 25-hydroxyvitamin D (25(OH)D) levels. Observational studies suggest a potential association between the incidence of laryngeal cancer and vitamin D levels, but the causality remains unclear. This study aims to investigate the potential causal relationship between vitamin D levels and laryngeal cancer.</div></div><div><h3>Methods</h3><div>This Mendelian Randomization (MR) study is based on large-scale GWAS (Genome-Wide Association Study) summary datasets. We selected two different datasets of 25(OH)D and conducted two two-sample univariable Mendelian Randomization (MR) analyses. Four different MR methods were applied, and a series of sensitivity analyses were performed. In addition, a two-sample Mendelian randomization was conducted to account for the confounding effect of smoking. Furthermore, we performed GO enrichment analyses on the SNPs used as instrumental variables.</div></div><div><h3>Results</h3><div>The combined findings from both univariable MR analyses support a potential causal relationship between serum 25(OH)D levels and laryngeal cancer, suggesting that higher levels of vitamin D may have a protective effect against laryngeal cancer. Multivariable MR analysis showed that even after accounting for smoking as a confounding factor, the impact of 25(OH)D on laryngeal cancer remained significant. Enrichment analysis further indicated that 25(OH)D may inhibit the occurrence and progression of laryngeal cancer by regulating the metabolism of exogenous substances, lipid metabolism, and cellular responses to environmental stimuli.</div></div><div><h3>Conclusion</h3><div>Higher serum 25-hydroxyvitamin D levels serve as a protective factor against laryngeal cancer, suggesting that increasing vitamin D levels may reduce the risk of laryngeal cancer.</div></div><div><h3>Level of evidence</h3><div>This was a Mendelian randomized study with a level of evidence second only to clinical randomized trials, and higher than cohort and case-control studies.</div></div>","PeriodicalId":49099,"journal":{"name":"Brazilian Journal of Otorhinolaryngology","volume":"92 1","pages":"Article 101705"},"PeriodicalIF":1.8,"publicationDate":"2025-09-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145042000","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
Cochlear size variation among the Argentinian population 阿根廷人群中耳蜗大小的变化
IF 1.8 4区 医学 Q2 OTORHINOLARYNGOLOGY Pub Date : 2025-09-10 DOI: 10.1016/j.bjorl.2025.101708
Maria Fernanda Di Gregorio , Ana Celeste Ferrari , Anandhan Dhanasingh , Maximo Zernotti , Mario Zernotti

Objective

Cochlear size, shape and the anatomy vary a lot among the human population. Cochlear size is a clinically useful parameter to determine the suitable cochlear implant electrode length. Objective is to assess the cochlear size and shape variation among the Argentine population.

Methods

Computer Tomography (CT) scans of 247 ears were assessed for the cochlear parameters including basal turn diameter (A-value) and width (B-value) and the cochlear height in the mid-modiolar section (H-value) using OTOPLAN® version 4.0. Shape of cochlear basal turn was determined by the ratio between B- and A-values. Cochlear Duct Length (CDL) was estimated from the A-, and B-values.

Results

The A-value was found to vary between 6.7 mm and 10.1 mm with a mean value of 8.7 ± 0.61 mm and the B-value was found to vary between 4.5 mm and 8.1 mm with a mean value of 6.4 ± 0.57 mm. The cochlear height as measured in the axial view from the mid-modiolar section was 3.78 ± 0.57 mm. Shape of the cochlear basal turn as determined by the ratio between B- and A-values showed 41 out of 248 ears (16.5%) have more of a round shaped basal turn with the ratio of ≥0.75 leaving the remaining 207 ears (83.5%) with more of an elliptical shaped basal turn. CDL was found to vary between 24.5 mm and 41.2 mm with a median value of 33.6 mm.

Conclusion

Argentine population appears to have slightly smaller cochlear size compared to population from other countries as reported in literature.

Level of evidence

3.
目的:不同人群的耳蜗大小、形状和解剖结构差异很大。耳蜗大小是临床上确定合适的人工耳蜗电极长度的重要参数。目的是评估阿根廷人群中耳蜗大小和形状的变化。方法采用OTOPLAN®4.0版本对247只耳蜗进行CT扫描,评估耳蜗基底转径(a值)、宽度(b值)和耳蜗中磨牙段高度(h值)等参数。通过B值与a值之比确定耳蜗基底转形状。根据A值和b值估计耳蜗管长度(CDL)。结果a值在6.7 ~ 10.1 mm之间变化,平均值为8.7±0.61 mm; b值在4.5 ~ 8.1 mm之间变化,平均值为6.4±0.57 mm。中磨牙切面轴向位测耳蜗高度为3.78±0.57 mm。B值与a值之比测定耳蜗基底转形状:248耳中有41耳(16.5%)的基底转以圆形为主,比值≥0.75,其余207耳(83.5%)的基底转以椭圆形为主。CDL在24.5 mm和41.2 mm之间变化,中位值为33.6 mm。结论阿根廷人群的耳蜗尺寸与文献报道的其他国家人群相比略小。证据水平3。
{"title":"Cochlear size variation among the Argentinian population","authors":"Maria Fernanda Di Gregorio ,&nbsp;Ana Celeste Ferrari ,&nbsp;Anandhan Dhanasingh ,&nbsp;Maximo Zernotti ,&nbsp;Mario Zernotti","doi":"10.1016/j.bjorl.2025.101708","DOIUrl":"10.1016/j.bjorl.2025.101708","url":null,"abstract":"<div><h3>Objective</h3><div>Cochlear size, shape and the anatomy vary a lot among the human population. Cochlear size is a clinically useful parameter to determine the suitable cochlear implant electrode length. Objective is to assess the cochlear size and shape variation among the Argentine population.</div></div><div><h3>Methods</h3><div>Computer Tomography (CT) scans of 247 ears were assessed for the cochlear parameters including basal turn diameter (A-value) and width (B-value) and the cochlear height in the mid-modiolar section (H-value) using OTOPLAN® version 4.0. Shape of cochlear basal turn was determined by the ratio between B- and A-values. Cochlear Duct Length (CDL) was estimated from the A-, and B-values.</div></div><div><h3>Results</h3><div>The A-value was found to vary between 6.7 mm and 10.1 mm with a mean value of 8.7 ± 0.61 mm and the B-value was found to vary between 4.5 mm and 8.1 mm with a mean value of 6.4 ± 0.57 mm. The cochlear height as measured in the axial view from the mid-modiolar section was 3.78 ± 0.57 mm. Shape of the cochlear basal turn as determined by the ratio between B- and A-values showed 41 out of 248 ears (16.5%) have more of a round shaped basal turn with the ratio of ≥0.75 leaving the remaining 207 ears (83.5%) with more of an elliptical shaped basal turn. CDL was found to vary between 24.5 mm and 41.2 mm with a median value of 33.6 mm.</div></div><div><h3>Conclusion</h3><div>Argentine population appears to have slightly smaller cochlear size compared to population from other countries as reported in literature.</div></div><div><h3>Level of evidence</h3><div>3.</div></div>","PeriodicalId":49099,"journal":{"name":"Brazilian Journal of Otorhinolaryngology","volume":"92 1","pages":"Article 101708"},"PeriodicalIF":1.8,"publicationDate":"2025-09-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145027668","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
High frequency of balance abnormalities in Turner syndrome 特纳综合征平衡性异常的高频率
IF 1.8 4区 医学 Q2 OTORHINOLARYNGOLOGY Pub Date : 2025-09-10 DOI: 10.1016/j.bjorl.2025.101713
Vanessa Brito Campoy Rocha , Raquel Mezzalira , Guita Stoler , Gil Guerra-Junior , Sofia Helena Valente de Lemos-Marini , Andréa Trevas Maciel-Guerra

Objective

To perform a thorough evaluation of body balance in Turner Syndrome, adding evidence to the already scarce data in literature regarding labyrinth impairment in these patients.

Methods

Adolescent and adult patients and a control group of healthy women were subject to otolaryngological, audiological, and vestibular evaluations. The latter included electronystagmography with caloric and rotational testing, cervical vestibular-evoked myogenic potential and static posturography with dynamic tests.

Results

Twenty-seven patients aged 15–33 years (mean: 21.9-years) were evaluated. Karyotype was 45,X in 13/27 cases. Dizziness was reported in eight patients and progressive hearing loss in ten. Audiometry was abnormal in 13/27 cases, six of them sensorineural, six conductive, and one with a mixed pattern. A balance abnormality was found in 21/27 patients (78%). Nineteen patients had vestibular lesion, [12 peripheral (57%), four combined (19%), three central (11%)] and two had only somatosensorial deficit. Non-vestibular abnormalities were found in 6 (22%) patients, five with somatosensorial deficit and one with visual dependence. Balance abnormalities were neither associated with karyotype (45,X vs. other karyotypes) nor with hearing impairment. Control group comprised 20 healthy women aged 27–35 years (mean: 30.5 years); 4/20 (25%) had a balance abnormality, two peripheral and two central causes, a frequency significantly lower than that of TS patients (p < 0.001).

Conclusion

Despite the low frequency of self-reported vestibular and auditory symptoms, this study reveals a high rate of inner ear involvement among women with TS, in which both auditory and vestibular pathways are frequently affected, often in a subclinical or compensated manner. These findings reinforce the importance of comprehensive screening protocols and indicate that appropriate interventions, including vestibular rehabilitation, should be considered as components of clinical follow-up in this population.

Level of Evidence

4.
目的对特纳综合征患者的身体平衡进行全面的评估,为文献中关于该患者迷宫损伤的数据补充证据。方法采用耳鼻喉科、听力学和前庭功能检查对青少年、成年患者和健康女性进行对照。后者包括含热量和旋转测试的眼震电图、颈前庭诱发肌电位和含动态测试的静态体位图。结果本组患者27例,年龄15 ~ 33岁,平均21.9岁。核型为45x, 13/27例。8名患者报告头晕,10名患者报告进行性听力丧失。听力学异常13/27例,感音神经性6例,传导性6例,混合型1例。27例患者中有21例(78%)出现平衡异常。前庭病变19例,外周病变12例(57%),合并病变4例(19%),中枢病变3例(11%),仅有体感功能障碍2例。6例(22%)患者无前庭功能异常,5例有体感障碍,1例有视觉依赖。平衡异常与核型无关(45,X与其他核型),也与听力障碍无关。对照组为20名27-35岁的健康女性(平均30.5岁);4/20(25%)有平衡异常,2个外周原因和2个中心原因,频率显著低于TS患者(p < 0.001)。结论:尽管自我报告的前庭和听觉症状的频率较低,但本研究揭示了TS女性内耳受累的高发生率,其中听觉和前庭通路经常受到影响,通常以亚临床或代偿方式。这些发现加强了全面筛查方案的重要性,并表明适当的干预措施,包括前庭康复,应被视为该人群临床随访的组成部分。证据水平
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引用次数: 0
One-year efficacy of Dupilumab in sense of smell, nasal polyp score and quality of life in CRSwNP patients: A real-world multicenter study in Brazil Dupilumab对CRSwNP患者嗅觉、鼻息肉评分和生活质量的一年疗效:巴西的一项真实世界的多中心研究
IF 1.8 4区 医学 Q2 OTORHINOLARYNGOLOGY Pub Date : 2025-09-06 DOI: 10.1016/j.bjorl.2025.101704
Otávio Marana Mieli , Fabiana Cardoso Pereira Valera , Vanessa Ramos Pires Dinarte , Clara Mônica Figueiredo de Lima , Marcio Nakanishi , Maria Eduarda Trocoli Zanetti , Felipe Oliveira Pires , Denny Marcos Garcia , Adriana de Andrade Batista Murashima , Luisa Karla de Paula Arruda , Fabrizio Ricci Romano , José Eduardo Seneda Lemos , Eduardo Macoto Kosugi , Eulalia Sakano , Miguel Soares Tepedino , Edwin Tamashiro , Wilma Terezinha Anselmo-Lima

Introduction

Chronic rhinosinusitis with nasal polyp (CRSwNP) is a predominant type 2 inflammatory disease, affecting the sense of smell and quality of life. Loss of smell compromises physical and emotional health, creating negative impacts and its treatment in CRSwNP is challenging.

Aim

To present the outcomes of dupilumab in olfactory function, Nasal Polyp Score (NPS) and quality of life in Brazilian patients with severe CRSwNP.

Material & methods

We selected severe type 2 CRSwNP patients from different Brazilian centers. Dupilumab was indicated after failure of optimized medical and surgical treatment. Patients were evaluated with endoscopic Nasal Polyps Score (NPS), Connecticut smell test (CCCRC) and quality of life questionnaire (SNOT-22), at baseline (T0) and at one year (T1) after dupilumab was initiated. The clinical response was classified as good or non-responsive, according to the degree of improvement at T1. Regarding disease control, patients were classified as controlled, partially controlled or uncontrolled.

Results

53 patients completed one year of treatment (19–76 years-old); 51 individuals (96.2%) had asthma and 33 had Aspirin-Exacerbated Respiratory Disease (AERD) (62.3%). Dupilumab decreased mean SNOT-22 scores from 61.9 to 16.7 points (paired t-test, t = 13.4, p < 0.0001). The median CCCRC scores improved from anosmia (0-points) to mild hyposmia (5.5-points) (Wilcoxon signed rank test, p < 0.0001). Regarding NPS, we observed a decrease from a median of 6 in T0 to 1 at T1. AERD patients showed similar responses to those with only asthma as comorbid disease. Overall, most of the patients (86.8%) showed improvement in the disease control (Bowker's Test, p < 0.0001).

Conclusions

Real-world data show that dupilumab improved NPS, smell function, and SNOT-22 scores in the Brazilian CRSwNP population. These results support the benefits of dupilumab in treating severe cases of CRSwNP.

Level of evidence

Level 3.
慢性鼻窦炎伴鼻息肉(CRSwNP)是一种主要的2型炎症性疾病,影响嗅觉和生活质量。嗅觉丧失损害身体和情绪健康,产生负面影响,CRSwNP的治疗具有挑战性。目的探讨dupilumab对巴西重度CRSwNP患者嗅觉功能、鼻息肉评分(NPS)和生活质量的影响。材料和方法我们选择了来自巴西不同中心的严重2型CRSwNP患者。在优化的内科和外科治疗失败后,使用Dupilumab。在基线(T0)和dupilumab开始治疗后1年(T1),通过内镜下鼻息肉评分(NPS)、康涅狄格嗅觉测试(CCCRC)和生活质量问卷(SNOT-22)对患者进行评估。根据T1时的改善程度,将临床反应分为良好或无反应。在疾病控制方面,将患者分为控制、部分控制和未控制。结果53例患者完成1年治疗,年龄19 ~ 76岁;51人(96.2%)患有哮喘,33人患有阿斯匹林加重呼吸系统疾病(AERD)(62.3%)。Dupilumab使SNOT-22平均评分从61.9降至16.7分(配对t检验,t = 13.4, p < 0.0001)。CCCRC评分中位数从嗅觉缺失(0分)改善到轻度低嗅觉(5.5分)(Wilcoxon sign rank检验,p < 0.0001)。关于NPS,我们观察到从T0的中位数6下降到T1的1。AERD患者表现出与仅哮喘为合并症的患者相似的反应。总体而言,大多数患者(86.8%)的疾病控制得到改善(Bowker’s Test, p < 0.0001)。真实数据显示,dupilumab可改善巴西CRSwNP人群的NPS、嗅觉功能和SNOT-22评分。这些结果支持dupilumab治疗重症CRSwNP的益处。证据等级:3级。
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引用次数: 0
Endonasal endoscopic treatment of a rare advanced Teratocarcinosarcoma of skull base 鼻内窥镜治疗1例罕见晚期颅底畸胎癌肉瘤
IF 1.8 4区 医学 Q2 OTORHINOLARYNGOLOGY Pub Date : 2025-09-06 DOI: 10.1016/j.bjorl.2025.101707
Lucas Sousa Salgado, Vinicius Domene, Thomas Peter Maahs, Rafael de Castro da Silva, Vanessa Carvalho de Oliveira, Renata Papatella Araujo, Carlos Takahiro Chone
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引用次数: 0
期刊
Brazilian Journal of Otorhinolaryngology
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