Acta otorrinolaringologica espanola最新文献

{"title":"Rendimiento diagnóstico del estudio genético en adultos con hipoacusia neurosensorial","authors":"Sara Reda del Barrio ,&nbsp;Joaquín de Vergas Gutiérrez ,&nbsp;Juan Francisco Quesada-Espinosa ,&nbsp;María Teresa Sánchez-Calvín ,&nbsp;Irene Gómez-Manjón ,&nbsp;Olalla Sierra-Tomillo ,&nbsp;Alexandra Juárez-Rufián ,&nbsp;Alfredo García Fernández","doi":"10.1016/j.otorri.2023.10.003","DOIUrl":"10.1016/j.otorri.2023.10.003","url":null,"abstract":"<div><h3>Introduction</h3><p>The contribution of genetic causes to sensorineural hearing loss (SNHL) in adults is less clear than in children, and genetic diagnosis is still not standardized in adults. In this study we present the genetic results obtained in a cohort of adult patients with SNHL.</p></div><div><h3>Materials and method</h3><p>We included 63 adults with SNHL that received genetic testing between 2019 and 2022. Whole exome sequencing was performed and variants in genes related to hearing loss (virtual panel with 244 genes) were prioritized and analyzed.</p></div><div><h3>Results</h3><p>Twenty-four percent (15/63) of patients were genetically diagnosed: 87% (13/15) of patients had non-syndromic hearing loss and 13% (2/15) had syndromic hearing loss. We identified pathogenic and likely pathogenic variants in 11 different genes.</p></div><div><h3>Conclusions</h3><p>Our results show that a significant proportion of adults with SNHL have a genetic origin, and that implementation of genetic testing improves diagnostic accuracy and allows personalized management of these patients.</p></div>","PeriodicalId":7019,"journal":{"name":"Acta otorrinolaringologica espanola","volume":"75 3","pages":"Pages 185-191"},"PeriodicalIF":1.0,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138987078","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":"Diagnostic value of vestibular evoked myogenic potentials in benign paroxysmal positional vertigo","authors":"Laura López-Viñas ,&nbsp;Esmeralda Rocío-Martín ,&nbsp;Elena de la Rosa Santiago ,&nbsp;Jorge Prada Pendolero ,&nbsp;Rybel Wix-Ramos","doi":"10.1016/j.otorri.2023.10.006","DOIUrl":"https://doi.org/10.1016/j.otorri.2023.10.006","url":null,"abstract":"<div><h3>Objectives</h3><p>Vestibular evoked myogenic potentials (VEMPs) are useful for studying the disturbances along nerve pathways implicated in the transmission of neurological information from otolithic organs related to vestibular function. This study aims to determine the differences in VEMPs in patients affected with benign paroxysmal positional vertigo (BPPV).</p></div><div><h3>Methods</h3><p>We recruited 36 patients, 9 diagnosed with recurrent BPPV (rBPPV), 9 with only one episode of vertigo (iBPPV), and 18 as a control group. We performed cervical and ocular VEMPs (cVEMPs and oVEMPs).</p></div><div><h3>Results</h3><p>We observed differences in asymmetry ratio, which was 41.82% in cVEMPs in iBPPV and 68.27% in oVEMPs in rBPPV, while no asymmetry was found in control cases. Also, there was a lack of both VEMP responses in 22.2% of cases and an absence of cVEMP in 11.1% in iBPPV; in rBPPV, 11.1 % presented no responses in cVEMPs or oVEMPs, 22.2% showed no oVEMP, and 11.1% showed no cVEMP. These values were normal in the control group.</p></div><div><h3>Conclusion</h3><p>The value of VEMPs in BPPV demonstrates the implication of vestibular damage, mainly utricle damage. For better sensitivity in detecting otolith abnormalities, we should perform oVEMPs and cVEMPs in recurrent BPPV and early stages of BPPV.</p></div>","PeriodicalId":7019,"journal":{"name":"Acta otorrinolaringologica espanola","volume":"75 3","pages":"Pages 192-196"},"PeriodicalIF":1.0,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140910266","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":"Análisis del cribado selectivo de citomegalovirus congénito en un hospital secundario. Problemas y soluciones","authors":"Ana Marco Sabater ,&nbsp;José Miguel Sequi Sabater ,&nbsp;Marta Gómez Delgado ,&nbsp;Alberto Lora Martín ,&nbsp;Víctor Aparisi Climent ,&nbsp;José Miguel Sequi Canet","doi":"10.1016/j.otorri.2023.07.006","DOIUrl":"10.1016/j.otorri.2023.07.006","url":null,"abstract":"<div><p>Universal hearing screening offers unique possibilities for detection of congenital deafness as a consequence of congenital cytomegalovirus (CMVc) infection, so its selective study in the case of a failed test could be a non-negligible screening opportunity while other guidelines covering the possibility of universal screening are adopted. The aim of this study is to analyse the possibility of selective screening for CMVc after an altered hearing test in a regional hospital. During the period studied, the results obtained were unsatisfactory, especially in children born outside the hospital of residence, showing an excessive delay in hearing screening in many cases and in the few cases where CMVc screening could be performed, only 30% had the test ordered in a timely manner. The reasons for this are varied and the solution is to include selective screening for CMVc in the hearing screening programme. This implies shortening the timing of the hearing screening protocol to allow CMVc testing in saliva or urine (preferably) before 21<!--> <!-->days of age and providing screening programmes with the necessary staff and time to perform it properly.</p></div>","PeriodicalId":7019,"journal":{"name":"Acta otorrinolaringologica espanola","volume":"75 3","pages":"Pages 162-168"},"PeriodicalIF":1.0,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139295019","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":"En respuesta a la carta al director «Comentarios a: Manifestaciones otorrinolaringológicas en la viruela del mono»","authors":"Berta Alegre ,&nbsp;Isabel Vilaseca","doi":"10.1016/j.otorri.2023.10.004","DOIUrl":"10.1016/j.otorri.2023.10.004","url":null,"abstract":"","PeriodicalId":7019,"journal":{"name":"Acta otorrinolaringologica espanola","volume":"75 2","pages":"Page 135"},"PeriodicalIF":1.0,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139021981","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":"Comentario a «Manifestaciones otorrinolaringológicas en la viruela del mono»","authors":"Aida Veiga-Alonso ,&nbsp;Trinidad Dierssen-Sotos ,&nbsp;Carmelo Morales-Angulo","doi":"10.1016/j.otorri.2023.10.002","DOIUrl":"10.1016/j.otorri.2023.10.002","url":null,"abstract":"","PeriodicalId":7019,"journal":{"name":"Acta otorrinolaringologica espanola","volume":"75 2","pages":"Pages 134-135"},"PeriodicalIF":1.0,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139195990","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":"Guía de práctica clínica sobre el manejo del schwannoma vestibular","authors":"Luis Lassaletta ,&nbsp;Leticia Acle Cervera ,&nbsp;Xabier Altuna ,&nbsp;Emilio Amilibia Cabeza ,&nbsp;Miguel Arístegui Ruiz ,&nbsp;Ángel Batuecas Caletrio ,&nbsp;Jesús Benítez del Rosario ,&nbsp;Rubén Cabanillas Farpón ,&nbsp;María Costales Marcos ,&nbsp;Pedro Escada ,&nbsp;Juan Manuel Espinosa-Sánchez ,&nbsp;Roberto García Leal ,&nbsp;Javier Gavilán ,&nbsp;Justo Gómez Martínez ,&nbsp;Rocío González-Aguado ,&nbsp;Victor Martinez-Gonzalez ,&nbsp;Gloria Guerra Jiménez ,&nbsp;Alejandro Harguindey Antolí-Candela ,&nbsp;Borja J. Hernández García ,&nbsp;Cesar Orús Dotú ,&nbsp;José Manuel Morales Puebla","doi":"10.1016/j.otorri.2023.10.005","DOIUrl":"10.1016/j.otorri.2023.10.005","url":null,"abstract":"<div><h3>Introduction</h3><p>Vestibular schwannoma (VS) is the most common tumour of the cerebellopontine angle. The greater accessibility to radiological tests has increased its diagnosis. Taking into account the characteristics of the tumour, the symptoms and the age of the patient, three therapeutic strategies have been proposed: observation, surgery or radiotherapy. Choosing the most appropriate for each patient is a frequent source of controversy.</p></div><div><h3>Material and methods</h3><p>This paper includes an exhaustive literature review of issues related to VS that can serve as a clinical guide in the management of patients with these lesions. The presentation has been oriented in the form of questions that the clinician usually asks himself and the answers have been written and/or reviewed by a panel of national and international experts consulted by the Otology Commission of the SEORL-CCC.</p></div><div><h3>Results</h3><p>A list has been compiled containing the 13 most controversial thematic blocks on the management of VS in the form of 50 questions, and answers to all of them have been sought through a systematic literature review (articles published on PubMed and Cochrane Library between 1992 and 2023 related to each thematic area). Thirty-three experts, led by the Otology Committee of SEORL-CCC, have analyzed and discussed all the answers. In Annex 1, 14 additional questions divided into 4 thematic areas can be found.</p></div><div><h3>Conclusions</h3><p>This clinical practice guideline on the management of VS offers agreed answers to the most common questions that are asked about this tumour. The absence of sufficient prospective studies means that the levels of evidence on the subject are generally medium or low. This fact increases the interest of this type of clinical practice guidelines prepared by experts.</p></div>","PeriodicalId":7019,"journal":{"name":"Acta otorrinolaringologica espanola","volume":"75 2","pages":"Pages 108-128"},"PeriodicalIF":1.0,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139015406","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":"The role of allergic and nonallergic rhinitis on success of type 1 cartilage tympanoplasty","authors":"Elif Ersoy Çallıoğlu ,&nbsp;Kazım Bozdemir ,&nbsp;Şadan Soyyiğit ,&nbsp;Saliha Atalay ,&nbsp;Bengi Arslan","doi":"10.1016/j.otorri.2023.07.003","DOIUrl":"https://doi.org/10.1016/j.otorri.2023.07.003","url":null,"abstract":"<div><h3>Objective</h3><p>To investigate the role of allergic rhinitis (AR) and non-allergic rhinitis (NAR) on success of type 1 cartilage tympanoplasty.</p></div><div><h3>Methods</h3><p>This prospective study was conducted on 60 patients who had type 1 cartilage tympanoplasty. The patients were divided into three groups as no-rhinitis (<em>n</em> = 28), NAR (<em>n</em> = 18) and AR (<em>n</em> = 14) groups, based on their symptoms, skin prick tests and/or serum specific IgE levels. AR and NAR groups were treated for their rhinitis symptoms both pre- and postoperatively. The patients were followed up for a minimum of 6 months and compared for graft success rates and audiological outcomes.</p></div><div><h3>Results</h3><p>Three study groups were similar for age, gender distributions and preoperative air-bone gaps (<em>p</em> = 0.780, <em>p</em> = 0.167 and <em>p</em> = 0.676, respectively). Postoperative graft perforation rate was 0% in no-rhinitis and AR groups while it was 16.7% in NAR group, with a significant difference among three groups (<em>p</em> = 0.034). The comparison of three study groups for change in the postoperative air bone gaps in comparison with preoperative air bone gaps did not yield any statistically significant result (<em>p</em> = 0.729).</p></div><div><h3>Conclusion</h3><p>Although AR does not result in failure of type 1 cartilage tympanoplasty in patients treated for rhinitis compared to the control group, NAR does. Pre- and postoperative treatment of patients for rhinitis and employment of cartilage graft may be the key factors for success of surgery in patients with AR. Further studies with a larger sample size are needed.</p></div>","PeriodicalId":7019,"journal":{"name":"Acta otorrinolaringologica espanola","volume":"75 2","pages":"Pages 102-107"},"PeriodicalIF":1.0,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140041975","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":"Diagnóstico genético de la hipoacusia neurosensorial infantil","authors":"Sara Reda del Barrio ,&nbsp;Alfredo García Fernández ,&nbsp;Juan Francisco Quesada-Espinosa ,&nbsp;María Teresa Sánchez-Calvín ,&nbsp;Irene Gómez-Manjón ,&nbsp;Olalla Sierra-Tomillo ,&nbsp;Alexandra Juárez-Rufián ,&nbsp;Joaquín de Vergas Gutiérrez","doi":"10.1016/j.otorri.2023.07.002","DOIUrl":"10.1016/j.otorri.2023.07.002","url":null,"abstract":"<div><h3>Introduction</h3><p>Congenital/early-onset sensorineural hearing loss (SNHL) is one of the most common hereditary disorders in our environment. There is increasing awareness of the importance of an etiologic diagnosis, and genetic testing with next-generation sequencing (NGS) has the highest diagnostic yield. Our study shows the genetic results obtained in a cohort of patients with bilateral congenital/early-onset SNHL.</p></div><div><h3>Materials and methods</h3><p>We included 105 children with bilateral SNHL that received genetic testing between 2019 and 2022. Genetic tests were performed with whole exome sequencing, analyzing genes related to hearing loss (virtual panel with 244 genes).</p></div><div><h3>Results</h3><p>48% (50/105) of patients were genetically diagnosed. We identified pathogenic and likely pathogenic variants in 26 different genes, and the most frequently mutated genes were <em>GJB2, USH2A</em> and <em>STRC</em>. 52% (26/50) of variants identified produced non-syndromic hearing loss, 40% (20/50) produced syndromic hearing loss, and the resting 8% (4/50) could produce both non-syndromic and syndromic hearing loss.</p></div><div><h3>Conclusions</h3><p>Genetic testing plays a vital role in the etiologic diagnosis of bilateral SNHL. Our cohort shows that genetic testing with NGS has a high diagnostic yield and can provide useful information for the clinical workup of patients.</p></div>","PeriodicalId":7019,"journal":{"name":"Acta otorrinolaringologica espanola","volume":"75 2","pages":"Pages 83-93"},"PeriodicalIF":1.0,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139298331","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":"Capacidad pronóstica del PIV (pan-immune-inflammation value) en pacientes con carcinoma escamoso de cabeza y cuello","authors":"Aina Sansa ,&nbsp;Cristina Valero ,&nbsp;Albert Pujol ,&nbsp;Blanca Sauter ,&nbsp;Julia Gayà ,&nbsp;Miquel Quer ,&nbsp;Xavier León","doi":"10.1016/j.otorri.2023.07.005","DOIUrl":"10.1016/j.otorri.2023.07.005","url":null,"abstract":"<div><h3>Introduction</h3><p>The pan-immune-inflammation value (PIV), an index that results from the following ratio: (neutrophils<!--> <!-->×<!--> <!-->monocytes<!--> <!-->×<!--> <!-->platelets) / lymphocytes, has been proposed as a prognostic biomarker in different tumor models. The aim of this study is to analyze the prognostic capacity of PIV in patients with head and neck squamous cell carcinoma.</p></div><div><h3>Patients and methods</h3><p>Retrospective study of 1,187 patients with head and neck squamous cell carcinoma treated at our center between 2000-2017. PIV value was obtained from an analysis performed within 3 weeks prior to the start of treatment.</p></div><div><h3>Results</h3><p>PIV value was significantly associated with toxic consumption (0.001), tumor location (0.0001), tumor extension (0.0001), and histological grade (0.016). Four categories were defined based on PIV value using a recursive partitioning analysis: category <span>i</span>: PIV<!--> <!-->&lt;<!--> <!-->136.3 (n<!--> <!-->=<!--> <!-->118, 9.9%), category <span>ii</span>: PIV 136.3-451.1 (n<!--> <!-->=<!--> <!-->594, 50.0%), category <span>iii</span>: PIV 451.1-1,141.2 (n<!--> <!-->=<!--> <!-->357, 30.1%), and category <span>iv</span>: PIV<!--> <!-->&gt;<!--> <!-->1,141.2 (n<!--> <!-->=<!--> <!-->118, 9.9%). A significant and ordered decrease in disease-specific survival was observed as the PIV category increased. This decrease in survival was independent of the type of treatment, tumor extension, or location of the primary tumor. The PIV category was an independent prognostic factor of disease-specific survival in a multivariable study.</p></div><div><h3>Conclusions</h3><p>PIV is a prognostic biomarker in patients with head and neck squamous cell carcinoma.</p></div>","PeriodicalId":7019,"journal":{"name":"Acta otorrinolaringologica espanola","volume":"75 2","pages":"Pages 94-101"},"PeriodicalIF":1.0,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139299258","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":"Traqueotomía versus traqueostomía, la necesidad de una aclaración lexicográfica","authors":"Serafín Sánchez-Gómez ,&nbsp;Elena Molina-Fernández ,&nbsp;María Eugenia Acosta Mosquera ,&nbsp;José María Palacios-García ,&nbsp;Fernando López-Álvarez ,&nbsp;María Sonia de Juana Morrondo ,&nbsp;Beatriz Tena-García","doi":"10.1016/j.otorri.2023.06.003","DOIUrl":"10.1016/j.otorri.2023.06.003","url":null,"abstract":"<div><p>In the healthcare field, the terms “traqueotomía” and “traqueostomía” are frequently used, often leading to confusion among professionals regarding the appropriate definition for each term or which one should be considered more correct in specific cases. A search was conducted for the terms “traqueotomía” and “traqueostomía” in general Spanish-language dictionaries such as the Dictionary of the Royal Spanish Academy (DRAE) and the Historical Dictionary of the Spanish Language of the Royal Spanish Academy (DHLE), as well as for the English terms “tracheotomy” and “tracheostomy” in English general dictionaries like the Oxford Dictionary, the Cambridge Dictionary, and the Collins English Dictionary. Additionally, searches were performed in medical dictionaries in both Spanish, specifically the Dictionary of Medical Terms of the National Academy of Medicine (DTM), and English, including the Farlex Dictionary. The terms were also explored using the Google search engine. Definitions were analyzed from both lexicographical and etymological perspectives. Definitions found in general dictionaries, in both Spanish and English, were found to be imprecise, limited, and ambiguous, as they mixed outdated indications with criteria that deviated from etymology. In contrast, definitions in medical dictionaries in both languages were more aligned with etymology. “Traqueotomía” strictly identifies the surgical procedure of creating an opening in the anterior face of the trachea. “Traqueostomía” identifies the creation of an opening that connects the trachea to the exterior, involving a modification of the upper airway by providing an additional entry for the respiratory pathway. “Traqueostomía” becomes the sole means of entry to the airway in total laryngectomies. Both terms can be used synonymously when a traqueotomía culminates in a traqueostomía. However, it is not appropriate to use the term “traqueostomía” when the procedure concludes with the closure of the planes and does not result in the creation of a stoma. Traqueostomas can be qualified with adjectives indicating permanence (temporary/permanent), size (large/small), shape (round/elliptical), or depth, without being linked to any specific disease or surgical indication. Not all permanent traqueostomas are the result of total laryngectomies, and they do not necessarily have an irreversible character systematically.</p></div>","PeriodicalId":7019,"journal":{"name":"Acta otorrinolaringologica espanola","volume":"75 2","pages":"Pages 73-82"},"PeriodicalIF":1.0,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139304783","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}