Acta otorrinolaringologica espanola最新文献

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Comment on the article: Recurrent peritonsillar abscess in adults: Incidence and risk factors in a prospective longitudinal cohort.
Acta otorrinolaringologica espanola Pub Date : 2025-03-24 DOI: 10.1016/j.otoeng.2025.512233
Francisco Javier García-Callejo, Miguel Juantegui Azpilicueta
{"title":"Comment on the article: Recurrent peritonsillar abscess in adults: Incidence and risk factors in a prospective longitudinal cohort.","authors":"Francisco Javier García-Callejo, Miguel Juantegui Azpilicueta","doi":"10.1016/j.otoeng.2025.512233","DOIUrl":"10.1016/j.otoeng.2025.512233","url":null,"abstract":"","PeriodicalId":93855,"journal":{"name":"Acta otorrinolaringologica espanola","volume":" ","pages":"512233"},"PeriodicalIF":0.0,"publicationDate":"2025-03-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143733541","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
Association of human papillomavirus (HPV) infection with the occurrence of second neoplasms and their prognostic impact in patients with oropharyngeal carcinoma.
Acta otorrinolaringologica espanola Pub Date : 2025-03-22 DOI: 10.1016/j.otoeng.2025.512237
Julia Gayà, David Rubio, Cristina Valero, Cristina Vázquez-López, Anna Holgado, Miquel Quer, Xavier León
{"title":"Association of human papillomavirus (HPV) infection with the occurrence of second neoplasms and their prognostic impact in patients with oropharyngeal carcinoma.","authors":"Julia Gayà, David Rubio, Cristina Valero, Cristina Vázquez-López, Anna Holgado, Miquel Quer, Xavier León","doi":"10.1016/j.otoeng.2025.512237","DOIUrl":"10.1016/j.otoeng.2025.512237","url":null,"abstract":"<p><strong>Introduction: </strong>This study analyses the incidence of second neoplasms in patients with oropharyngeal carcinoma according to human papillomavirus (HPV) status and its impact on survival.</p><p><strong>Material and methods: </strong>A retrospective analysis of 583 patients with oropharyngeal cancer treated between 1991 and 2023 was performed. A total of 112 patients (19.2%) had HPV-positive tumours.</p><p><strong>Results: </strong>During the follow-up, 181 patients (31.0%) had a second neoplasm. The 5-year and 10-year second neoplasm-free survival for HPV-negative patients were 60.5% and 37.5%, significantly lower than in HPV-positive patients, which were 88.2% and 70.8%, respectively (p = .0001). The 84.4% of second and subsequent neoplasms in HPV-negative patients occurred in locations associated with tobacco and alcohol use, compared to 65.5% in HPV-positive patients (p = .001). In comparison to HPV-positive patients with no history of toxics consumption, HPV-positive patients with severe toxics consumption had a significantly higher risk of second neoplasms in locations associated with tobacco and alcohol use (p = .003). The competitive mortality associated with the appearance of second and subsequent neoplasms was significantly higher for patients with HPV-negative tumours (p = .0001).</p><p><strong>Conclusions: </strong>Patients with HPV-positive oropharyngeal carcinomas have a lower risk of second neoplasms and lower competitive mortality associated with the appearance of second neoplasms compared with HPV-negative patients.</p>","PeriodicalId":93855,"journal":{"name":"Acta otorrinolaringologica espanola","volume":" ","pages":"512237"},"PeriodicalIF":0.0,"publicationDate":"2025-03-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143702429","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.
Acta otorrinolaringologica espanola Pub Date : 2025-03-22 DOI: 10.1016/j.otoeng.2025.512236
Marta Zabaleta López, Belén Clemente Cuartero, Pedro Díaz de Cerio Canduela, Nisa Boukichou Abdelkader, Javier Ugedo Urruela
{"title":"Respiratory complications in patients undergoing surgery for oral cavity, pharyngeal, and laryngeal cancer in a tertiary hospital.","authors":"Marta Zabaleta López, Belén Clemente Cuartero, Pedro Díaz de Cerio Canduela, Nisa Boukichou Abdelkader, Javier Ugedo Urruela","doi":"10.1016/j.otoeng.2025.512236","DOIUrl":"10.1016/j.otoeng.2025.512236","url":null,"abstract":"<p><strong>Background and objective: </strong>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).</p><p><strong>Materials and methods: </strong>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.</p><p><strong>Results: </strong>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).</p><p><strong>Conclusions: </strong>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.</p>","PeriodicalId":93855,"journal":{"name":"Acta otorrinolaringologica espanola","volume":" ","pages":"512236"},"PeriodicalIF":0.0,"publicationDate":"2025-03-22","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
Acoustic characteristics of the voice of children with cochlear implant.
Acta otorrinolaringologica espanola Pub Date : 2025-03-22 DOI: 10.1016/j.otoeng.2025.512238
F Núñez-Batalla, A Álvarez, I Sandoval, P Sánchez, E Díaz-Fresno, J J Ramírez, M Guntín, J Gómez, J L Llorente, V Suárez-Martínez
{"title":"Acoustic characteristics of the voice of children with cochlear implant.","authors":"F Núñez-Batalla, A Álvarez, I Sandoval, P Sánchez, E Díaz-Fresno, J J Ramírez, M Guntín, J Gómez, J L Llorente, V Suárez-Martínez","doi":"10.1016/j.otoeng.2025.512238","DOIUrl":"10.1016/j.otoeng.2025.512238","url":null,"abstract":"<p><strong>Introduction: </strong>Congenital profound bilateral hearing loss prevents the correct development of speech and voice. This study assesses certain acoustic parameters of the voice in order to determine their normality in the implanted population.</p><p><strong>Method: </strong>Two population groups were studied. A control group consisting of 42 healthy pediatric patients, 22 boys and 20 girls, and a group of 22 pediatric patients, 11 boys and 11 girls with congenital profound hearing loss implanted bilaterally. The variables median pitch, CPPS, jitter rap and shimmer apq5 were evaluated in an isolated phonation exercise and another in connected speech for the phoneme /a/ with the PRAAT program. Student's t-test and Wilcoxcon tests were applied.</p><p><strong>Results: </strong>Significant intergroup differences were obtained for all variables in the vowel extracted from connected speech, but not in the sustained vowel. The hearing-impaired population showed some significant differences in the intra-group analysis. The experimental group showed better results in the vocal quality parameters, particularly jitter, shimmer and CPPS showed statistically significant differences.</p><p><strong>Conclusion: </strong>Early bilateral implantation allows the cochlear implant user to approximate his acoustic values ​​to normative values ​​in terms of pitch, stability, quality and articulatory precision.</p>","PeriodicalId":93855,"journal":{"name":"Acta otorrinolaringologica espanola","volume":" ","pages":"512238"},"PeriodicalIF":0.0,"publicationDate":"2025-03-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143702423","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
Effect of bariatric surgery in the treatment of obstructive sleep apnea in obese patients.
Acta otorrinolaringologica espanola Pub Date : 2025-03-21 DOI: 10.1016/j.otoeng.2025.512221
Silvia Matarredona Quiles, Marina Carrasco Llatas, Paula Martínez Ruíz de Apodaca, Jose Ángel Díez Ares, Elena González Turienzo, José Dalmau Galofre
{"title":"Effect of bariatric surgery in the treatment of obstructive sleep apnea in obese patients.","authors":"Silvia Matarredona Quiles, Marina Carrasco Llatas, Paula Martínez Ruíz de Apodaca, Jose Ángel Díez Ares, Elena González Turienzo, José Dalmau Galofre","doi":"10.1016/j.otoeng.2025.512221","DOIUrl":"10.1016/j.otoeng.2025.512221","url":null,"abstract":"<p><strong>Purpose: </strong>To analyze the success rate of bariatric surgery in the treatment of obstructive sleep apnea (OSA) in obese patients and its related factors.</p><p><strong>Methods: </strong>Longitudinal, prospective, single cohort study, with consecutive sampling including OSA patients aged 18-65 years intervened of bariatric surgery. An anamnesis regarding OSA, a complete upper airway (UA) exploration and a cardiorespiratory polygraphy (CRP) pre- and post-surgery were performed.</p><p><strong>Results: </strong>Fifty-seven patients were included in this study. The overall surgical success and cure rates for bariatric surgery as a treatment for OSA were 61.4% and 52.6%, respectively. Factors predicting success were female sex (OR = 12.54; CI95% = 1.75-89.88, p = 0.012), age below 53 years old (OR = 7.24; CI95% = 1.48-35.51, p = 0.015) and pre-surgical weight below 105 kg (OR = 8.1; CI95% = 1.44-45.62, p = 0.018). Surgical success cases had lower weight and body mass index, greater weight loss, smaller postsurgical neck circumference and less palatal webbing, however these were not independent factors in the multivariate analysis.</p><p><strong>Conclusions: </strong>Our results show that bariatric surgery is a feasible option for OSA treatment in obese patients, with a higher success rate in female, younger and thinner patients. Moreover, adipose tissue on the UA has been proven to decrease as a result of weight loss, although not correlated with surgery success in the treatment of OSA.</p>","PeriodicalId":93855,"journal":{"name":"Acta otorrinolaringologica espanola","volume":" ","pages":"512221"},"PeriodicalIF":0.0,"publicationDate":"2025-03-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143694711","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
Comparison of the EPOS 2020 and POLINA 2.0 guidelines for indicating biologic treatment in adults with chronic rhinosinusitis and nasal polyps.
Acta otorrinolaringologica espanola Pub Date : 2025-03-21 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
{"title":"Comparison of the EPOS 2020 and POLINA 2.0 guidelines for indicating biologic treatment in adults with chronic rhinosinusitis and nasal polyps.","authors":"Mireia Golet, Núria Padullés-Zamora, Alejandro Portillo, José María Caballero, Mariana Muñoz Esquerre, Joaquín Sastre, Isam Alobid, Xavier González-Compta","doi":"10.1016/j.otoeng.2025.512224","DOIUrl":"10.1016/j.otoeng.2025.512224","url":null,"abstract":"<p><strong>Objective: </strong>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.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusions: </strong>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.</p>","PeriodicalId":93855,"journal":{"name":"Acta otorrinolaringologica espanola","volume":" ","pages":"512224"},"PeriodicalIF":0.0,"publicationDate":"2025-03-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143694551","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
Anatomical variations of sphenoid sinus on cone beam computed tomography.
Acta otorrinolaringologica espanola Pub Date : 2025-03-21 DOI: 10.1016/j.otoeng.2025.512229
Patrícia Fernandes Lopes, Tatiana Carvalho, Miguel Furtado
{"title":"Anatomical variations of sphenoid sinus on cone beam computed tomography.","authors":"Patrícia Fernandes Lopes, Tatiana Carvalho, Miguel Furtado","doi":"10.1016/j.otoeng.2025.512229","DOIUrl":"10.1016/j.otoeng.2025.512229","url":null,"abstract":"<p><strong>Introduction: </strong>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.</p><p><strong>Methods: </strong>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®.</p><p><strong>Results: </strong>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).</p><p><strong>Discussion/conclusion: </strong>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.</p>","PeriodicalId":93855,"journal":{"name":"Acta otorrinolaringologica espanola","volume":" ","pages":"512229"},"PeriodicalIF":0.0,"publicationDate":"2025-03-21","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
SEORL-CCC consensus on the nomenclature of cervical lymph node dissections.
Acta otorrinolaringologica espanola Pub Date : 2025-03-21 DOI: 10.1016/j.otoeng.2025.512231
Laura Rodrigáñez, Alexander Sistiaga, Fernando López, Eduardo Ferrandis, Pedro Diaz de Cerio, Pablo Parente, Alejandro Castro, Javier Gavilán
{"title":"SEORL-CCC consensus on the nomenclature of cervical lymph node dissections.","authors":"Laura Rodrigáñez, Alexander Sistiaga, Fernando López, Eduardo Ferrandis, Pedro Diaz de Cerio, Pablo Parente, Alejandro Castro, Javier Gavilán","doi":"10.1016/j.otoeng.2025.512231","DOIUrl":"10.1016/j.otoeng.2025.512231","url":null,"abstract":"<p><p>There have been multiple classifications of cervical dissections for decades in the literature, however none of them has been completely applied worldwide. After an exhaustive review, the Oncology and Head and Neck Surgery Committee of the SEORL-CCC has agreed on its own classification to standardise neck dissections and thus be able to compare results. The Oncology and Head and Neck Surgery Committee 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, depending on the anatomical areas dissected (comprehensive or selective).</p>","PeriodicalId":93855,"journal":{"name":"Acta otorrinolaringologica espanola","volume":" ","pages":"512231"},"PeriodicalIF":0.0,"publicationDate":"2025-03-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143694669","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
ENT pediatric infection diseases and its relationship with COVID-19. Results of a retrospective cohort study in Madrid, Spain.
Acta otorrinolaringologica espanola Pub Date : 2025-03-21 DOI: 10.1016/j.otoeng.2025.512225
Montserrat Asensi-Diaz, Monica Hernando Cuñado, Alex Lowy Benoliel, Juan Antonio Pasamontes Pingarron, Carlos Martin-Oviedo, Rosalia Souviron Encabo, Maria Scola Torres, Miguel Ángel Arístegui Ruíz
{"title":"ENT pediatric infection diseases and its relationship with COVID-19. Results of a retrospective cohort study in Madrid, Spain.","authors":"Montserrat Asensi-Diaz, Monica Hernando Cuñado, Alex Lowy Benoliel, Juan Antonio Pasamontes Pingarron, Carlos Martin-Oviedo, Rosalia Souviron Encabo, Maria Scola Torres, Miguel Ángel Arístegui Ruíz","doi":"10.1016/j.otoeng.2025.512225","DOIUrl":"10.1016/j.otoeng.2025.512225","url":null,"abstract":"<p><strong>Introduction: </strong>During the COVID-19 pandemic, ENT infections decreased but became more severe when combined with COVID-19. Post-pandemic, there has been a notable rise in ENT infections globally, particularly ear infections. In our region, we observed an increase in complicated pediatric ENT infections requiring urgent surgical intervention after the end of preventive measures. This study investigates the changes in ENT infection profiles in Madrid, Spain, following the pandemic.</p><p><strong>Material and methods: </strong>We analyzed data from children who underwent urgent ENT surgical interventions at a Spanish tertiary hospital between January 2018 and December 2023. The data was divided into three groups: pre-pandemic (1st group), during the pandemic with preventive measures (2nd group), and post-pandemic after the removal of these measures (3rd group). Variables included demographics, clinical data, imaging, treatment, and hospitalization duration.</p><p><strong>Results: </strong>The study involved 87 children (58.6% male) with a mean age of 6.4 years. There was a significant overall increase in ENT infections in the 3rd group compared to the 1st and 2nd groups (p = 0.036). Specifically, ear infections increased significantly after the removal of social measures (p = 0.033). In the 3rd group, Streptococcus pyogenes infections increased (p = 0.028), with Amoxicillin becoming the predominant treatment (p = 0.047), as opposed to Amoxicillin-clavulanic acid used for Fusobacterium in earlier periods (p = 0.00).</p><p><strong>Discussion and conclusion: </strong>The pandemic has shifted the ENT infection profile, with increased ear infections and a rise in Group A streptococcus post-pandemic. This underscores the need for updated treatment strategies for pediatric ENT infections.</p>","PeriodicalId":93855,"journal":{"name":"Acta otorrinolaringologica espanola","volume":" ","pages":"512225"},"PeriodicalIF":0.0,"publicationDate":"2025-03-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143694715","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
A look at DFNB16 markers and their application in the genetic study of hearing loss in Iranian deaf families.
Acta otorrinolaringologica espanola Pub Date : 2025-03-21 DOI: 10.1016/j.otoeng.2025.512230
Reihane Fazeli-Jezei, Elham Davoudi-Dehaghani
{"title":"A look at DFNB16 markers and their application in the genetic study of hearing loss in Iranian deaf families.","authors":"Reihane Fazeli-Jezei, Elham Davoudi-Dehaghani","doi":"10.1016/j.otoeng.2025.512230","DOIUrl":"10.1016/j.otoeng.2025.512230","url":null,"abstract":"<p><strong>Introduction: </strong>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.</p><p><strong>Material and methods: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Discussion: </strong>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.</p>","PeriodicalId":93855,"journal":{"name":"Acta otorrinolaringologica espanola","volume":" ","pages":"512230"},"PeriodicalIF":0.0,"publicationDate":"2025-03-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143694427","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
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