Acta otorrinolaringologica espanola最新文献

{"title":"A look at DFNB16 markers and their application in the genetic study of hearing loss in Iranian deaf families","authors":"Reihane Fazeli-Jezei ,&nbsp;Elham Davoudi-Dehaghani","doi":"10.1016/j.otorri.2025.512230","DOIUrl":"10.1016/j.otorri.2025.512230","url":null,"abstract":"<div><h3>Introduction</h3><div>The study of the gene encoding stereocilin (<em>STRC</em>) is complicated by the presence of a pseudogene (<em>STRCP1</em>) with over 98.8% similarity. We analysed the linkage between hearing loss and the DFNB16 locus in consanguineous Iranian deaf families.</div></div><div><h3>Materials and methods</h3><div>A review of previous studies on the DFNB16 locus was conducted to find the smallest regions linked to the <em>STRC</em> 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.</div></div><div><h3>Results</h3><div>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.</div></div><div><h3>Discussion</h3><div>In genetic studies of deafness in multi-affected consanguineous families, preliminary screening by autozygosity mapping can be helpful, especially for complicated genes like <em>STRC</em>. 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 <em>STRC</em>-related deafness.</div></div>","PeriodicalId":7019,"journal":{"name":"Acta otorrinolaringologica espanola","volume":"76 4","pages":"Article 512230"},"PeriodicalIF":0.9,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144713623","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}

{"title":"Isolated frontal sinus angiofibroma with external forehead deformity: A case report","authors":"Ali Tawfik,&nbsp;Ahmed Musaad Abd-Elfattah,&nbsp;Hisham Atef Ebada,&nbsp;Ahmad Muhammad Al-Arman,&nbsp;Donia Usama Hamza,&nbsp;Elsharawy Kamal","doi":"10.1016/j.otorri.2025.512227","DOIUrl":"10.1016/j.otorri.2025.512227","url":null,"abstract":"","PeriodicalId":7019,"journal":{"name":"Acta otorrinolaringologica espanola","volume":"76 4","pages":"Article 512227"},"PeriodicalIF":0.9,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144713659","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}

{"title":"¿Dónde se dirige la medicina del sueño? Un análisis de las unidades multidisciplinares en España","authors":"Laura Rodriguez Alcala ,&nbsp;Carlos O’Connor-Reina ,&nbsp;Carlos Egea ,&nbsp;F. Javier Puertas ,&nbsp;Milagros Merino ,&nbsp;Marina Carrasco ,&nbsp;Jose Maria Ignacio ,&nbsp;Peter Baptista ,&nbsp;Guillermo Plaza","doi":"10.1016/j.otorri.2025.512234","DOIUrl":"10.1016/j.otorri.2025.512234","url":null,"abstract":"","PeriodicalId":7019,"journal":{"name":"Acta otorrinolaringologica espanola","volume":"76 4","pages":"Article 512234"},"PeriodicalIF":0.9,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144713660","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}

{"title":"External ear affection in multiple myeloma","authors":"João Tavares Correia,&nbsp;Isabel Silva-Carvalho,&nbsp;Luís Meireles","doi":"10.1016/j.otorri.2025.512228","DOIUrl":"10.1016/j.otorri.2025.512228","url":null,"abstract":"","PeriodicalId":7019,"journal":{"name":"Acta otorrinolaringologica espanola","volume":"76 4","pages":"Article 512228"},"PeriodicalIF":0.9,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144712491","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}

{"title":"Complicaciones respiratorias en pacientes intervenidos por cáncer de cavidad oral, faringe y laringe en un hospital terciario","authors":"Marta Zabaleta López ,&nbsp;Belén Clemente Cuartero ,&nbsp;Pedro Díaz de Cerio Canduela ,&nbsp;Nisa Boukichou Addelkader ,&nbsp;Javier Ugedo Urruela","doi":"10.1016/j.otorri.2025.512236","DOIUrl":"10.1016/j.otorri.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 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 pulmonology 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 pulmonology clinic prior to surgery. Diabetes mellitus and non-epidermoid cancer types were significantly associated with complications (<em>P</em> <!-->&lt;<!--> <!-->.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 optimize 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":7019,"journal":{"name":"Acta otorrinolaringologica espanola","volume":"76 4","pages":"Article 512236"},"PeriodicalIF":0.9,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144713612","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}

{"title":"Epignatus: una causa inusual de obstrucción de vía aérea en el recién nacido","authors":"Mónica Rueda Vega,&nbsp;Alex Lowy Benoliel,&nbsp;Rosalía Souvirón Encabo","doi":"10.1016/j.otorri.2025.512232","DOIUrl":"10.1016/j.otorri.2025.512232","url":null,"abstract":"","PeriodicalId":7019,"journal":{"name":"Acta otorrinolaringologica espanola","volume":"76 3","pages":"Article 512232"},"PeriodicalIF":0.9,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144088754","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}

{"title":"Nebulized hyaluronic acid and xylitol based solution after turbinate radiofrequency ablation. A triple blind randomized multicentric clinical trial","authors":"Christian Calvo-Henríquez ,&nbsp;Ainhoa García-Lliberos ,&nbsp;Byron Maldonado-Alvarado ,&nbsp;Miguel Rodriguez-Iglesias ,&nbsp;David Lobo-Duro ,&nbsp;Juan Maza-Solano ,&nbsp;Serafín Sánchez-Gomez ,&nbsp;Isam Alobid","doi":"10.1016/j.otorri.2025.512218","DOIUrl":"10.1016/j.otorri.2025.512218","url":null,"abstract":"<div><h3>Objective</h3><div>This prospective, triple blind randomized clinical trial aims to specifically evaluate the effect of Aluneb® (hyaluronic acid plus xilitol) in the postoperative treatment of inferior turbinate radiofrequency in adults compared to nebulized isotonic saline.</div></div><div><h3>Methods</h3><div>Adults undergoing radiofrequency turbinate ablation were included. Treatment group received Aluneb® (hyaluronic acid plus xylitol) while the control group received nebulized isotonic saline for two months after treatment. Participants were studied the week before surgery (visit 0), and at 7, 15, 30 and 60 days after surgery. At all visits, participants underwent physical examination, rhinomanometry, SNOT-22, and visual analogue scale (VAS) of symptoms.</div></div><div><h3>Results</h3><div>34 participants were recruited. Crusts (endoscopy) were less in the Aluneb® hyaluronic acid plus xylitol group. Nasal crusting, epistaxis and nasal obstruction VAS were statistically significant lower. VAS for Rhinorrea, halitosis, cacosmia and pain and nasal resistance obtained lower self-reported values in the hyaluronic acid plus xilitol group, but these differences were not statistically significant.</div></div><div><h3>Conclusions</h3><div>Hyaluronic acid plus xilitol demonstrated promise in improving postoperative outcomes, future studies with larger sample sizes and different surgical techniques are encouraged.</div></div>","PeriodicalId":7019,"journal":{"name":"Acta otorrinolaringologica espanola","volume":"76 3","pages":"Article 512218"},"PeriodicalIF":0.9,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144088752","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}

{"title":"Pediatric maxillary expansion to treat nasal obstruction","authors":"Christian Calvo-Henriquez ,&nbsp;Pedro Martínez-Seijas ,&nbsp;Antonino Maniaci ,&nbsp;Juan Carlos Pérez-Varela ,&nbsp;Sandra Kahn ,&nbsp;Isam Alobid ,&nbsp;Stanley Y. Liu","doi":"10.1016/j.otorri.2025.512220","DOIUrl":"10.1016/j.otorri.2025.512220","url":null,"abstract":"<div><h3>Objective</h3><div>An often neglected cause of nasal obstruction is maxillary constriction. Maxillary expansion (ME) has been proven to decrease nasal resistance and increase nasal volume and airflow thus improving nasal obstruction symptoms both in adults and children. However, up to the present, studies have reported on patients with an orthodontic indication for ME, but not being treated for nasal obstruction. In this study we report a case series of pediatric patients who have been diagnosed with nasal obstruction attributed to maxillary constriction and who have been treated with ME.</div></div><div><h3>Methods</h3><div>Participants were consecutively selected. All children performed anterior active rhinomanometry and SN-5 questionnaire before and after ME. The longest follow-up visit to otolaryngology was recorded for this study. The inclusion criteria were children without adenoid or turbinate enlargement with persistent oral breathing and nasal obstruction confirmed through rhinomanometry. All included children were referred to their odontologist who performed ME only if it was safe for the patient.</div></div><div><h3>Results</h3><div>23 participants with a mean age of 10.1 (range 6.66–13.27) were included. 78.3% had been previously submitted to surgery to restore or improve nasal breathing. There was a mean decrease in nasal resistance of 0.13 Pa s/cm³, which is a reduction of 34.2% over the mean initial value (<em>P</em> &lt; .001). There was a statistically significant correlation between the amount of expansion and the decrease in nasal resistance (Rho = 0.75; <em>P</em> &lt; .001), and the increase in nasal airflow (rho = 0.71; <em>P</em> &lt; .001). Participants demonstrated a statistically significant decrease in their nasal symptoms measured with the SN5 questionnaire (<em>P</em> = .033).</div></div><div><h3>Conclusions</h3><div>These are preliminary results that should be managed with caution. Considering previous reports which included ME performed for orthodontic reasons, and the case series herein presented, which includes ME performed for nasal breathing, it seems that ME could be used with this latter objective. Future controlled studies should corroborate these results before producing a general recommendation.</div></div>","PeriodicalId":7019,"journal":{"name":"Acta otorrinolaringologica espanola","volume":"76 3","pages":"Article 512220"},"PeriodicalIF":0.9,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144088761","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}

{"title":"Cochleo-vestibular phenotype in patients with pathogenic variations in the ACTG1 gene","authors":"Rocío González-Aguado ,&nbsp;Jaime Gallo-Terán ,&nbsp;Eshter Onecha ,&nbsp;Carmelo Morales-Angulo","doi":"10.1016/j.otorri.2025.512217","DOIUrl":"10.1016/j.otorri.2025.512217","url":null,"abstract":"<div><h3>Objective</h3><div>This study aimed to investigate the prevalence of pathogenic, likely pathogenic, and variants of unknown significance in the <em>ACTG1</em> gene among families with suspected bilateral sensorineural hearing loss of genetic origin. Additionally, the research aimed to elucidate the cochleovestibular phenotype of individuals carrying these variants.</div></div><div><h3>Methods</h3><div>A cohort of 365 unrelated families with sensorineural hearing loss participated in this study. Genetic analysis was conducted using Next-Generation Sequencing (NGS).</div></div><div><h3>Results</h3><div>The study identified c.94C&gt;A and c.721G&gt;A pathogenic variants in heterozygosity in the <em>ACTG1</em> gene among three probands. Two of these cases exhibited an autosomal dominant inheritance pattern, while the third was a <em>de novo</em> variant. Additionally, three other family members underwent genetic and audiological evaluations. Onset of hearing loss typically occurred between the first and second decades of life, initially affecting high frequencies and gradually extending to all frequencies. Treatment with hearing aids yielded favourable outcomes in all cases.</div></div><div><h3>Conclusions</h3><div>Pathogenic variants in the <em>ACTG1</em> gene were found to be rare in the studied population. Nonetheless, these variants should be considered in families presenting with postlingual bilateral sensorineural hearing loss, particularly when high-frequency hearing loss progressively worsens to profound levels.</div></div>","PeriodicalId":7019,"journal":{"name":"Acta otorrinolaringologica espanola","volume":"76 3","pages":"Article 512217"},"PeriodicalIF":0.9,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144088751","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}

{"title":"Consenso de la SEORL-CCC sobre la nomenclatura de los vaciamientos ganglionares cervicales","authors":"Laura Rodrigáñez ,&nbsp;Alexander Sistiaga ,&nbsp;Fernando López ,&nbsp;Eduardo Ferrandis ,&nbsp;Pedro Diaz de Cerio ,&nbsp;Pablo Parente ,&nbsp;Alejandro Castro ,&nbsp;Javier Gavilán","doi":"10.1016/j.otorri.2025.512231","DOIUrl":"10.1016/j.otorri.2025.512231","url":null,"abstract":"<div><div>There have been multiple classifications of cervical dissections for decades in the literature, but none of them has been completely imposed worldwide. After an exhaustive review of them, the Oncology and Head and Neck Surgery Commission of the SEORL-CCC has agreed on its own classification to standardize neck dissections to be able to compare results.</div><div>The Oncology and Head and Neck Surgery Commission of the SEORL-CCC considers that cervical dissections should be classified according to the type of surgical approach performed (functional or radical) and its extension pursuant to the anatomical areas dissected (comprehensive or selective).</div></div>","PeriodicalId":7019,"journal":{"name":"Acta otorrinolaringologica espanola","volume":"76 3","pages":"Article 512231"},"PeriodicalIF":0.9,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144088762","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}