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Management of orbital complications of acute rhinosinusitis: A 13-year experience 急性鼻窦炎眼眶并发症的处理:13年的经验。
Pub Date : 2025-09-01 DOI: 10.1016/j.otoeng.2025.512262
Monica Rueda Vega , M Montserrat Asensi Diaz , María C Scola Torres , Carolina López Granados , Mónica Hernando , Juan Antonio Pasamontes

Introduction

After the development of antibiotics and early diagnostic methods, the complications of acute rhinosinusitis (ARS) have reduced in recent years. However, in clinical practice, we still observe both orbital and intracranial complications.
The aim of this study is to describe a series of patients with complications of ARS and to define what clinical and radiological characteristics may indicate the need of surgical treatment.

Materials

Retrospective observational study of patients diagnosed with orbital complications secondary to ARS who were hospitalized at a tertiary hospital between 2010 and 2023. Demographic, clinical, radiological, microbiological data, therapeutic strategy and hospitalization time were studied.

Results

Fifty-six patients were included (59% male), with a mean age of 11.5 years (37 under 18 years old). The most frequent symptoms were eyelid edema (98%) and erythema (89%), proptosis (46%) and fever (50%). According to Chandler’s classification, the most frequent complications were subperiosteal abscesses (46%) and orbital cellulitis (23%). There were six cases of orbital abscesses and one cavernous sinus thrombosis. The most frequently used antibiotic was amoxicillin + clavulanic acid (54%). Surgical intervention was necessary in 26 patients (46%).

Conclusion

Orbital complications of ARS are rare, but they can have potentially vision-threatening and life-threatening complications. Therefore, it is essential to consider them in the differential diagnosis, and in case of suspicion, initiate antibiotic treatment as soon as possible, with or without surgical drainage. Endoscopic surgery is the preferred approach, but it may be necessary to combine it with external drainage, especially in lateral locations or on the orbital roof.
近年来,随着抗生素和早期诊断方法的发展,急性鼻窦炎(ARS)的并发症有所减少。然而,在临床实践中,我们仍然观察到眼眶和颅内并发症。本研究的目的是描述一系列ARS并发症患者,并确定哪些临床和放射学特征可能表明需要手术治疗。资料:回顾性观察研究2010 - 2023年在某三级医院诊断为ARS继发眼眶并发症的患者。研究了人口统计学、临床、放射学、微生物学资料、治疗策略和住院时间。结果:纳入56例患者(59%为男性),平均年龄11.5岁(18岁以下37例)。最常见的症状是眼睑水肿(98%)、红斑(89%)、眼球突出(46%)和发热(50%)。根据Chandler的分类,最常见的并发症是骨膜下脓肿(46%)和眶蜂窝织炎(23%)。眼眶脓肿6例,海绵窦血栓1例。最常用的抗生素是阿莫西林+克拉维酸(54%)。26例(46%)患者需要手术干预。结论:ARS眼窝并发症虽少见,但有潜在的危及视力和生命的并发症。因此,在鉴别诊断时必须考虑到这些因素,一旦怀疑,无论是否进行手术引流,都应尽快开始抗生素治疗。内窥镜手术是首选的方法,但可能需要结合外引流,特别是在外侧位置或眶顶。
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引用次数: 0
Otorhinolaryngological manifestations in patients with eosinophilic granulomatosis with polyangiitis in a single university center 单一大学中心嗜酸性肉芽肿病合并多血管炎患者的耳鼻喉科表现。
Pub Date : 2025-09-01 DOI: 10.1016/j.otoeng.2025.512263
Julia Fernández-Enseñat , Fabricio Benavides-Villanueva , Andrea Martínez-Camerano , Vanesa Calvo-Rio , Ricardo Blanco , Carmelo Morales-Angulo

Objectives

Eosinophilic granulomatosis with polyangiitis (EGPA) is an ANCA-associated vasculitis affecting multiple systems, with common ear, nose and throat (ENT) manifestations. This study aimed to evaluate the most frequent ENT manifestations in EGPA patients and the relationship between nasal polyps and other clinical findings such as ANCA tests and eosinophilia.

Materials and methods

A retrospective observational study was conducted on EGPA patients diagnosed between 2000 and 2024 at a tertiary hospital using the 2022 ACR/EULAR criteria. Head and neck examinations, including audiometry, and their imaging and histopathological studies were reviewed. Patients were classified based on the presence or absence of nasal polyps, and the relationship between ANCA positivity and eosinophilia was assessed.

Results

Of 173 patients with ANCA vasculitis, 22 met EGPA criteria, with a prevalence of 3.6 per 100,000 in Cantabria. Head and neck manifestations were observed in 90.5% of patients (19/21). Sinonasal involvement was the most frequent (82%), with otological manifestations in 31.8% (7/21). Nasal polyps were the most common manifestation (7/21). Head and neck biopsies were performed in 7 cases (32%), which showed no evidence of vasculitis. There was no statistically significant association between nasal polyps, ANCA positivity, and eosinophilia.

Conclusions

Sinonasal involvement is prevalent in EGPA, often presenting as chronic rhinitis or rhinosinusitis with or without polyps. Otological issues, such as eustachian tube dysfunction and sensorineural hearing loss, are also common. No laryngeal, oral, or salivary gland lesions were observed. There was no significant correlation between the presence of polyps and ANCA positivity or eosinophilia.
目的:嗜酸性肉芽肿病合并多血管炎(EGPA)是一种影响多系统的anca相关血管炎,常见的耳鼻喉(ENT)表现。本研究旨在评估EGPA患者最常见的耳鼻喉科表现,以及鼻息肉与其他临床表现(如ANCA检查和嗜酸性粒细胞增多)之间的关系。材料和方法:采用2022年ACR/EULAR标准,对某三级医院2000 - 2024年诊断的EGPA患者进行回顾性观察研究。我们回顾了头颈部检查,包括听力学,及其影像学和组织病理学研究。根据有无鼻息肉对患者进行分类,并评估ANCA阳性与嗜酸性粒细胞增多的关系。结果:在173例ANCA血管炎患者中,22例符合EGPA标准,坎塔布里亚的患病率为每10万人3.6例。90.5%的患者(19/21)出现头颈部症状。鼻窦受累最常见(82%),耳部表现占31.8%(7/21)。鼻息肉是最常见的表现(7/21)。头颈部活检7例(32%),未发现血管炎。鼻息肉、ANCA阳性和嗜酸性粒细胞增多之间无统计学意义的关联。结论:EGPA患者普遍受累于鼻窦,常表现为慢性鼻炎或鼻鼻窦炎伴或不伴息肉。耳科疾病,如咽鼓管功能障碍和感音神经性听力损失,也很常见。未观察到喉部、口腔或唾液腺病变。息肉的出现与ANCA阳性或嗜酸性粒细胞增多无显著相关性。
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引用次数: 0
Aberrant intratympanic internal carotid artery 腔内颈内动脉异常。
Pub Date : 2025-09-01 DOI: 10.1016/j.otoeng.2025.512268
Saúl Astray-Gómez , Celia Montón-Gómez , Carlos de Paula-Vernetta
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引用次数: 0
Disease control in unresectable laryngeal carcinoma cuniculatum using pembrolizumab and chemotherapy: A case report 使用派姆单抗和化疗控制不可切除喉癌的疾病:1例报告。
Pub Date : 2025-09-01 DOI: 10.1016/j.otoeng.2025.512270
Natalia Arango Cabezas , Rosa Delia Ramirez-Ruiz , Nuria Cuesta , Isabel Vilaseca
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引用次数: 0
Comparison of the EPOS 2020 and POLINA 2.0 guidelines for indicating biologic treatment in adults with chronic rhinosinusitis and nasal polyps epos2020和POLINA 2.0指南对成人慢性鼻窦炎和鼻息肉生物治疗的比较
Pub Date : 2025-07-01 DOI: 10.1016/j.otoeng.2025.512224
Mireia Golet , Núria Padullés-Zamora , Alejandro Portillo , José María Caballero , Mariana Muñoz Esquerre , Joaquín Sastre , Isam Alobid , Xavier González-Compta

Objective

To analyze the volume of patients with chronic rhinosinusitis with nasal polyps (CRSwNP) to whom biologics would be prescribed based on the European and Spanish clinical practice guidelines, and to evaluate the impact that an increase of 1 required prior surgery (from 1 to 2) may have on the number of indications.

Methods

Cross-sectional analysis evaluating the application of the European Position Paper on CRSwNP Guidelines (EPOS 2020) and the Spanish Consensus on the Management of CRSwNP Guidelines (POLINA 2.0) on an on-going prospective cohort study of consecutive patients with severe CRSwNP in a tertiary hospital.

Results

For a total of 103 patients with severe CRSwNP, 57.3% met EPOS 2020 criteria for biological treatment, whereas only 32% met POLINA 2.0 criteria. However, if the number of surgeries required to prescribe a biological therapy is increased to 2, only 31.1% of the patients would have indication of biological treatment, in any of the two guidelines.

Conclusions

The differences among the POLINA 2.0 and the EPOS 2020 guidelines appear to have an impact in the proportion of patients eligible for biological therapies, with the former being stricter. Increasing the number of prior surgeries required, reduces the proportion of patients eligible for monoclonal antibodies prescription.
目的:分析慢性鼻窦炎合并鼻息肉(CRSwNP)患者的数量,根据欧洲和西班牙临床实践指南开具生物制剂处方,并评估术前手术要求增加1例(从1例增加到2例)对适应症数量的影响。方法:通过横断面分析评估欧洲CRSwNP指南立场文件(EPOS 2020)和西班牙CRSwNP指南管理共识(POLINA 2.0)在一项正在进行的前瞻性队列研究中的应用,该研究纳入了一家三级医院的连续严重CRSwNP患者。结果:在103例重度CRSwNP患者中,57.3%符合EPOS 2020生物治疗标准,而只有32%符合POLINA 2.0标准。然而,如果开生物疗法所需的手术数量增加到2次,在两种指南中,只有31.1%的患者有生物治疗的指征。结论:POLINA 2.0和EPOS 2020指南之间的差异似乎对符合生物治疗条件的患者比例产生了影响,前者更严格。增加术前手术所需的数量,降低了单克隆抗体处方的患者比例。
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引用次数: 0
Anatomical variations of sphenoid sinus on cone beam computed tomography 锥束计算机体层摄影在蝶窦解剖上的变化。
Pub Date : 2025-07-01 DOI: 10.1016/j.otoeng.2025.512229
Patrícia Fernandes Lopes , Tatiana Carvalho , Miguel Furtado

Introduction

The surgical approach to the sphenoid sinus (SS) is one of the most challenging aspects of endoscopic surgery due to its proximity to critical structures. To minimize risks, computed tomography (CT) aids in navigational guidance. Although cone beam computed tomography (CBCT) has lower contrast resolution, it offers improved precision, reduced radiation exposure, and faster imaging, making it a viability as a preoperative tool.

Methods

We randomly selected 75 patients from 707 who underwent CBCT between January and December 2023. Two observers evaluated SS anatomy with consensus. Statistical analyses were conducted using Excel® and Jamovi®.

Results

Anatomical variations were documented, with prevalence rates as follows: sphenoethmoidal cell (15%); optic nerve (ON) protrusion (21%) and dehiscence (4%); internal carotid artery (ICA) protrusion (31%) and dehiscence (0%); vidian canal (VC) protrusion (39%) and dehiscence (6%); foramen rotundum (FR) protrusion (23%) and dehiscence (5%); anterior clinoid process (ACP) pneumatization (20%); pterygoid process (PP) pneumatization (33%); conchal (1%), presellar (7%), sellar (36%) and postsellar type (56%) SS; and intersphenoidal septum (47%). Statistically significant correlations were observed between ACP pneumatization and ON protrusion (p < 0.001) and dehiscence (p = 0.018), and ICA protrusion (p = 0.001). PP pneumatization was significantly correlated with VC protrusion (p < 0.001) and dehiscence (p = 0.011), and foramen rotundum protrusion (p < 0.001).

Discussion/Conclusion

Our CBCT findings largely aligned with CT data in existing literature. Due to its faster acquisition and lower radiation exposure, CBCT shows potential as a preoperative evaluation method for assessing the SS.
导读:蝶窦的手术入路是内镜手术中最具挑战性的方面之一,因为它接近关键结构。为了降低风险,计算机断层扫描(CT)有助于导航。尽管锥形束计算机断层扫描(CBCT)的对比度分辨率较低,但它提供了更高的精度、更少的辐射暴露和更快的成像,使其成为一种可行的术前工具。方法:从2023年1月至12月期间接受CBCT检查的707例患者中随机选择75例。两名观察员一致评价SS解剖。采用Excel®和Jamovi®进行统计分析。结果:解剖变异被记录,患病率如下:蝶筛细胞(15%);视神经(ON)突出(21%)和裂裂(4%);颈内动脉(ICA)突出(31%)和开裂(0%);viddian canal (VC)突出(39%)和开裂(6%);圆孔(FR)突出(23%)和开裂(5%);前斜突(ACP)通气(20%);翼状突(PP)气化(33%);鼻窦型(1%)、鞍前型(7%)、鞍前型(36%)和鞍后型(56%);蝶窦间隔(47%)。ACP气化与ON突出之间存在统计学意义上的相关性(p)讨论/结论:我们的CBCT结果与现有文献中的CT数据基本一致。由于其采集速度快,辐射暴露低,CBCT有潜力作为术前评估SS的方法。
{"title":"Anatomical variations of sphenoid sinus on cone beam computed tomography","authors":"Patrícia Fernandes Lopes ,&nbsp;Tatiana Carvalho ,&nbsp;Miguel Furtado","doi":"10.1016/j.otoeng.2025.512229","DOIUrl":"10.1016/j.otoeng.2025.512229","url":null,"abstract":"<div><h3>Introduction</h3><div>The surgical approach to the sphenoid sinus (SS) is one of the most challenging aspects of endoscopic surgery due to its proximity to critical structures. To minimize risks, computed tomography (CT) aids in navigational guidance. Although cone beam computed tomography (CBCT) has lower contrast resolution, it offers improved precision, reduced radiation exposure, and faster imaging, making it a viability as a preoperative tool.</div></div><div><h3>Methods</h3><div>We randomly selected 75 patients from 707 who underwent CBCT between January and December 2023. Two observers evaluated SS anatomy with consensus. Statistical analyses were conducted using Excel® and Jamovi®.</div></div><div><h3>Results</h3><div>Anatomical variations were documented, with prevalence rates as follows: sphenoethmoidal cell (15%); optic nerve (ON) protrusion (21%) and dehiscence (4%); internal carotid artery (ICA) protrusion (31%) and dehiscence (0%); vidian canal (VC) protrusion (39%) and dehiscence (6%); foramen rotundum (FR) protrusion (23%) and dehiscence (5%); anterior clinoid process (ACP) pneumatization (20%); pterygoid process (PP) pneumatization (33%); conchal (1%), presellar (7%), sellar (36%) and postsellar type (56%) SS; and intersphenoidal septum (47%). Statistically significant correlations were observed between ACP pneumatization and ON protrusion (<em>p</em> &lt; 0.001) and dehiscence (<em>p</em> = 0.018), and ICA protrusion (<em>p</em> = 0.001). PP pneumatization was significantly correlated with VC protrusion (<em>p</em> &lt; 0.001) and dehiscence (<em>p</em> = 0.011), and foramen rotundum protrusion (<em>p</em> &lt; 0.001).</div></div><div><h3>Discussion/Conclusion</h3><div>Our CBCT findings largely aligned with CT data in existing literature. Due to its faster acquisition and lower radiation exposure, CBCT shows potential as a preoperative evaluation method for assessing the SS.</div></div>","PeriodicalId":93855,"journal":{"name":"Acta otorrinolaringologica espanola","volume":"76 4","pages":"Article 512229"},"PeriodicalIF":0.0,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143694396","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Respiratory complications in patients undergoing surgery for oral cavity, pharyngeal, and laryngeal cancer in a tertiary hospital 某三级医院口腔癌、咽喉癌手术患者的呼吸系统并发症
Pub Date : 2025-07-01 DOI: 10.1016/j.otoeng.2025.512236
Marta Zabaleta López , Belén Clemente Cuartero , Pedro Díaz de Cerio Canduela , Nisa Boukichou Abdelkader , Javier Ugedo Urruela

Background and objective

The incidence of head and neck cancer (HNC) is directly related to tobacco and alcohol consumption, which explains why patients with HNC often present comorbidities, with chronic obstructive pulmonary disease (COPD) being an example. This condition is underdiagnosed, and various authors have demonstrated how its presence increases the incidence of respiratory complications in patients undergoing surgery for HNC.
We conducted a study aimed at evaluating respiratory complications in patients undergoing surgery for HNC at the San Pedro University Hospital (HUSP).

Materials and methods

A retrospective and descriptive study was conducted, including all adult patients diagnosed with oral cavity, pharyngeal, or laryngeal carcinoma who underwent surgery at the San Pedro University Hospital (HUSP) in Logroño between 2018 and 2021. Sociodemographic variables, medical history, previous pulmonary evaluation, and respiratory complications were recorded. A two-year follow-up was carried out.

Results

A total of 160 patients were included. 74.4% of the patients were men, and the mean age was 72 years. 69.4% had a smoking habit, and 41.2% consumed alcohol. Comorbidities were documented in 82.5% of patients, with hypertension being the most prevalent, while COPD ranked fifth at 8.1%. Prior to surgery, only 16% of patients underwent spirometry, and fewer than 2% were evaluated in the pulmonary clinic.
Ten patients (6.25%) developed respiratory complications. Of these, 80% were smokers, and 30% had COPD, yet none had been evaluated in the pulmonary clinic prior to surgery. Diabetes mellitus and non-epidermoid cancer types were significantly associated with complications (p < 0.05).

Conclusions

6.25% of patients who underwent surgery for HNC experienced respiratory complications. Although this rate is lower than those reported in other studies, it is noteworthy. This is especially relevant considering that, despite 30% of these patients having a prior diagnosis of COPD, none were evaluated before surgery to optimise treatment for this condition. These findings underscore the importance of identifying and managing COPD in patients with HNC and the need for further research in this area.
背景与目的:头颈癌(HNC)的发病率与烟草和酒精消费直接相关,这就解释了为什么HNC患者经常出现合并症,慢性阻塞性肺疾病(COPD)就是一个例子。这种情况没有得到充分的诊断,许多作者已经证明了它的存在如何增加了接受HNC手术的患者呼吸系统并发症的发生率。我们进行了一项研究,旨在评估在圣佩德罗大学医院(HUSP)接受HNC手术的患者的呼吸并发症。材料和方法:进行了一项回顾性和描述性研究,包括2018年至2021年期间在Logroño圣佩德罗大学医院(HUSP)接受手术的所有诊断为口腔、咽喉癌或喉癌的成年患者。记录社会人口学变量、病史、既往肺部评估和呼吸系统并发症。进行了为期两年的随访。结果:共纳入160例患者。男性占74.4%,平均年龄72岁。69.4%有吸烟习惯,41.2%有饮酒习惯。82.5%的患者有合并症,其中高血压最为普遍,而COPD排名第五,为8.1%。手术前,只有16%的患者接受了肺活量测定,不到2%的患者在肺部临床进行了评估。10例(6.25%)出现呼吸道并发症。其中80%是吸烟者,30%患有慢性阻塞性肺病,但在手术前没有人在肺部临床接受过评估。糖尿病和非表皮样癌类型与并发症显著相关(p)。结论:6.25%的HNC手术患者出现呼吸系统并发症。虽然这一比率低于其他研究报告,但值得注意。考虑到尽管这些患者中有30%先前诊断为COPD,但在手术前没有对其进行评估以优化治疗,这一点尤为重要。这些发现强调了在HNC患者中识别和管理COPD的重要性以及在这一领域进一步研究的必要性。
{"title":"Respiratory complications in patients undergoing surgery for oral cavity, pharyngeal, and laryngeal cancer in a tertiary hospital","authors":"Marta Zabaleta López ,&nbsp;Belén Clemente Cuartero ,&nbsp;Pedro Díaz de Cerio Canduela ,&nbsp;Nisa Boukichou Abdelkader ,&nbsp;Javier Ugedo Urruela","doi":"10.1016/j.otoeng.2025.512236","DOIUrl":"10.1016/j.otoeng.2025.512236","url":null,"abstract":"<div><h3>Background and objective</h3><div>The incidence of head and neck cancer (HNC) is directly related to tobacco and alcohol consumption, which explains why patients with HNC often present comorbidities, with chronic obstructive pulmonary disease (COPD) being an example. This condition is underdiagnosed, and various authors have demonstrated how its presence increases the incidence of respiratory complications in patients undergoing surgery for HNC.</div><div>We conducted a study aimed at evaluating respiratory complications in patients undergoing surgery for HNC at the San Pedro University Hospital (HUSP).</div></div><div><h3>Materials and methods</h3><div>A retrospective and descriptive study was conducted, including all adult patients diagnosed with oral cavity, pharyngeal, or laryngeal carcinoma who underwent surgery at the San Pedro University Hospital (HUSP) in Logroño between 2018 and 2021. Sociodemographic variables, medical history, previous pulmonary evaluation, and respiratory complications were recorded. A two-year follow-up was carried out.</div></div><div><h3>Results</h3><div>A total of 160 patients were included. 74.4% of the patients were men, and the mean age was 72 years. 69.4% had a smoking habit, and 41.2% consumed alcohol. Comorbidities were documented in 82.5% of patients, with hypertension being the most prevalent, while COPD ranked fifth at 8.1%. Prior to surgery, only 16% of patients underwent spirometry, and fewer than 2% were evaluated in the pulmonary clinic.</div><div>Ten patients (6.25%) developed respiratory complications. Of these, 80% were smokers, and 30% had COPD, yet none had been evaluated in the pulmonary clinic prior to surgery. Diabetes mellitus and non-epidermoid cancer types were significantly associated with complications (p &lt; 0.05).</div></div><div><h3>Conclusions</h3><div>6.25% of patients who underwent surgery for HNC experienced respiratory complications. Although this rate is lower than those reported in other studies, it is noteworthy. This is especially relevant considering that, despite 30% of these patients having a prior diagnosis of COPD, none were evaluated before surgery to optimise treatment for this condition. These findings underscore the importance of identifying and managing COPD in patients with HNC and the need for further research in this area.</div></div>","PeriodicalId":93855,"journal":{"name":"Acta otorrinolaringologica espanola","volume":"76 4","pages":"Article 512236"},"PeriodicalIF":0.0,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143702431","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Where are we heading with sleep medicine? A study of multidisciplinary units in Spain 睡眠医学的发展方向是什么?西班牙多学科单位的研究。
Pub Date : 2025-07-01 DOI: 10.1016/j.otoeng.2025.512234
Laura Rodriguez Alcala , Carlos O’Connor-Reina , Carlos Egea , F. Javier Puertas , Milagros Merino , Marina Carrasco , Jose Maria Ignacio , Peter Baptista , Guillermo Plaza
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引用次数: 0
A look at DFNB16 markers and their application in the genetic study of hearing loss in Iranian deaf families DFNB16标记及其在伊朗失聪家庭听力损失遗传学研究中的应用
Pub Date : 2025-07-01 DOI: 10.1016/j.otoeng.2025.512230
Reihane Fazeli-Jezei , Elham Davoudi-Dehaghani

Introduction

The study of the gene encoding stereocilin (STRC) is complicated by the presence of a pseudogene (STRCP1) with over 98.8% similarity. We analysed the linkage between hearing loss and the DFNB16 locus in consanguineous Iranian deaf families.

Materials and methods

A review of previous studies on the DFNB16 locus was conducted to find the smallest regions linked to the STRC gene with no reported crossing-overs, as well as an investigation of short tandem repeat (STR) and single nucleotide polymorphism (SNP) markers of the DFNB16 locus using the UCSC, NCBI, and Iranome databases. A total of 36 consanguineous families with at least two individuals affected by autosomal recessive non-syndromic hearing loss (ARNSHL) were selected for the study. Autozygosity mapping was performed using tag SNP markers linked to the DFNB16 locus.

Results

The investigation showed that SNPs are more appropriate for linkage studies in these families than STR markers. In this study, 12 distinct haplotypes were identified, with frequencies ranging from 3.1% to 21.8%. Based on the haplotype analysis results and the autozygosity mapping, no linkage was found in any families analysed.

Discussion

In genetic studies of deafness in multi-affected consanguineous families, preliminary screening by autozygosity mapping can be helpful, especially for complicated genes like STRC. If the distance between STRs and the gene under study is significant, SNPs can provide a more effective solution. This study can potentially help to develop a more cost-effective method for genetic testing of STRC-related deafness.
摘要:编码stereocilin (STRC)基因的研究因一个相似度超过98.8%的假基因STRCP1的存在而变得复杂。我们分析了伊朗近亲耳聋家庭中听力损失与DFNB16基因座之间的联系。材料和方法:对DFNB16基因座的既往研究进行了回顾,寻找与STRC基因相关的最小区域,并使用UCSC、NCBI和Iranome数据库对DFNB16基因座的短串联重复(STR)和单核苷酸多态性(SNP)标记进行了调查。共有36个近亲家庭,至少有2人患有常染色体隐性非综合征性听力损失(ARNSHL)。使用与DFNB16位点相关的标签SNP标记进行自合子定位。结果:调查显示snp比STR标记更适合于这些家族的连锁研究。在这项研究中,鉴定出12种不同的单倍型,频率从3.1%到21.8%不等。根据单倍型分析结果和自合子图谱,在所有分析的家族中均未发现连锁。讨论:在多患近亲家族耳聋的遗传研究中,通过自合作图进行初步筛选是有帮助的,特别是对于STRC等复杂基因。如果STRs与所研究基因之间的距离很大,snp可以提供更有效的解决方案。这项研究可能有助于开发一种更具成本效益的方法,用于strc相关耳聋的基因检测。
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引用次数: 0
Impact of chronic rhinosinusitis with nasal polyps on Eustachian tube dysfunction 慢性鼻窦炎伴鼻息肉对耳咽管功能障碍的影响。
Pub Date : 2025-07-01 DOI: 10.1016/j.otoeng.2025.512235
Francisco Javier García-Callejo , Miguel Juantegui-Azpilicueta , María Díaz-Ferrer , Pablo Tiziano Guastella Almeida , John Deiver Cardona Henao

Introduction

Adequate nasal patency has been classically considered a crucial factor in middle ear ventilation. We valued the influence of nasosinusal polyposis on Eustachian tube (ET) function.

Material and methods

A prospective follow-up with all cases of chronic rhinosinusitis with nasal polyps (CRSwNP) assisted between January 2019 and October 2024 was carried out. Their endoscopic, radiological and clinical characteristics were noted, as well as the presence of a type 2 inflammation context (T2I) and the incidence of middle ear pathology. Polypoid involvement and tubal dysfunction were studied using several scores: Lidholdt’s scale, Lund-McKay nasal polyp grading, Lund-Kennedy endoscopic scoring system, SNOT-22 and Eustachian Tube Dysfunction Questionnaire-7 (ETDQ-7) score.

Results

Information was collected from 155 patients, with an incidence of 15,1 cases/100,000 inhabitants. 70,9% showed an T2I profile. This group showed a higher average of cases with acute otitis media and effusion (18,1% vs. 4,4%; P < .001), tympanometric alterations (12,7% vs. 4,4%; P < 0.01), conductive hearing loss (17,2%. vs 4,4%; P < 0.001) and needing for transtympanic drains (9,1% vs. 2,2%; P < .01) than the group without an eosinophilic profile or elevated IgE. The ETDQ-7 score correlated well with the SNOT-22 and Lund-Kennedy scales.

Conclusions

Regression analysis revealed that an T2I profile might play a more important role in tubal patency than nasal obstruction. Polyposis may alter ET function, but more likely due to its inflammatory-allergic aetiopathogenesis than to its obstructive nature.
适当的鼻通畅一直被认为是中耳通气的关键因素。我们评价鼻窦息肉病对咽鼓管功能的影响。材料和方法:对2019年1月至2024年10月期间所有慢性鼻窦炎伴鼻息肉(CRSwNP)患者进行前瞻性随访。他们的内窥镜,放射学和临床特征,以及2型炎症背景(T2I)的存在和中耳病理的发生率被记录下来。采用Lidholdt量表、Lund-McKay鼻息肉分级、Lund-Kennedy内窥镜评分系统、SNOT-22和耳咽管功能障碍问卷-7 (ETDQ-7)评分对息肉累及和输卵管功能障碍进行研究。结果:共收集155例患者资料,发病率为15.1例/10万居民。70.9%为T2I型。该组急性中耳炎和积液的平均发生率较高(18.1% Vs. 4.4%;结论:回归分析显示T2I在输卵管通畅中可能比鼻塞起更重要的作用。息肉病可能改变ET功能,但更可能是由于其炎症过敏性病原作用,而不是其梗阻性。
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引用次数: 0
期刊
Acta otorrinolaringologica espanola
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