International journal of pediatric otorhinolaryngology最新文献

{"title":"Genetic screening for hearing impairment and the genotype-phenotype correlation of GJB2 c.109G>A variants in 47,729 neonates: a population-based study in southern China","authors":"Jianjun Li,&nbsp;Meng Guo,&nbsp;Wenwen Yu,&nbsp;Li Ma,&nbsp;Qi Zhang,&nbsp;Qi Wang,&nbsp;Xueyu Yang,&nbsp;Hongyun He,&nbsp;Wenlan Liu","doi":"10.1016/j.ijporl.2026.112737","DOIUrl":"10.1016/j.ijporl.2026.112737","url":null,"abstract":"<div><h3>Background</h3><div>This study aimed to characterize the Variant profile of the 4 common deafness-causing genes and evaluated the genotype-phenotype correlation of <em>GJB2</em> c.109G &gt; A variants in a neonatal cohort, providing insights for early diagnosis of congenital hearing loss.</div></div><div><h3>Methods</h3><div>A total of 47,729 newborns in Shenzhen underwent integrated deafness gene screening (23 common pathogenic variants across <em>GJB2</em>, <em>SLC26A4</em>, <em>MT-RNR1</em>, and <em>GJB3</em>) and two-stage audiometric assessments from January 2022 to November 2024. Participants were stratified into three groups based on <em>GJB2</em> c.109G &gt; A genotypes: homozygous (Group A, n = 487), compound heterozygous (Group B, n = 87), and heterozygous carriers (Group C, n = 8055). Hearing function was evaluated via otoacoustic emissions (OAE) at 48 h postpartum, with non-passing cases receiving follow-up OAE and auditory brainstem response (ABR) testing at 42 days.</div></div><div><h3>Results</h3><div>Deafness-associated Variant were detected in 21.56 % (10,291/47,729) of neonates, with <em>GJB2</em> exhibiting the highest carrier frequency (20.25 %), followed by <em>SLC26A4</em> (1.44 %), <em>MT-RNR1</em> (0.28 %), and <em>GJB3</em> (0.18 %). The <em>GJB2</em> c.109G &gt; A locus dominated the variant landscape, with a carrier rate of 18.12 % (n = 8649) and an minor allele frequency of 9.57 %. The overall pass rates for the two-stage audiological assessments differed significantly across the groups: 63.66 % (Group A), 70.11 % (Group B), and 98.92 % (Group C). Bilateral hearing impairment predominated in Groups A and B.</div></div><div><h3>Conclusion</h3><div>The <em>GJB2</em> c.109G &gt; A Variant represents the most prevalent pathogenic variant in Shenzhen neonates, and the infants carrying deafness-causing genotypes of this variant presents relatively high hearing screening pass rate. Integrated genetic and audiometric screening could enhance early identification of high-risk infants.</div></div>","PeriodicalId":14388,"journal":{"name":"International journal of pediatric otorhinolaryngology","volume":"202 ","pages":"Article 112737"},"PeriodicalIF":1.3,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146018710","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Composite chondroperichondrial clip (“Triple-C”) tympanoplasty in pediatric patients","authors":"Shadi Shinnawi ,&nbsp;Roni Barzilai ,&nbsp;Majd Khoury ,&nbsp;Muhammad Zahlaka ,&nbsp;Ali Hammad ,&nbsp;Mauricio Cohen-Vaizer","doi":"10.1016/j.ijporl.2026.112746","DOIUrl":"10.1016/j.ijporl.2026.112746","url":null,"abstract":"","PeriodicalId":14388,"journal":{"name":"International journal of pediatric otorhinolaryngology","volume":"202 ","pages":"Article 112746"},"PeriodicalIF":1.3,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146063215","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Catastrophic primary bleeding post intracapsular tonsillectomy in paediatrics – highlighting risk and technical considerations","authors":"Authors Amy Hannigan ,&nbsp;Raimundo Garcia-Matte ,&nbsp;Christopher Jackson ,&nbsp;Hannah Burns ,&nbsp;Eric Levi ,&nbsp;Phillip Sale ,&nbsp;Hayley Herbert","doi":"10.1016/j.ijporl.2026.112706","DOIUrl":"10.1016/j.ijporl.2026.112706","url":null,"abstract":"","PeriodicalId":14388,"journal":{"name":"International journal of pediatric otorhinolaryngology","volume":"202 ","pages":"Article 112706"},"PeriodicalIF":1.3,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145957676","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Analyses of GJB2 status in hereditary and non-syndromic hearing loss cases in Turkey reveal pathogenicity of rare c.247_249delTTC variant","authors":"Sait Tümer ,&nbsp;Mustafa Bülent Şerbetçioğlu ,&nbsp;Günay Kırkım ,&nbsp;Seda Nur Homurlu ,&nbsp;Oğuz Altungöz","doi":"10.1016/j.ijporl.2026.112739","DOIUrl":"10.1016/j.ijporl.2026.112739","url":null,"abstract":"","PeriodicalId":14388,"journal":{"name":"International journal of pediatric otorhinolaryngology","volume":"202 ","pages":"Article 112739"},"PeriodicalIF":1.3,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146075220","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Determination of the normative values of the subjective visual vertical and horizontal test in the pediatric population","authors":"Sanem Can Sarıoğlu ,&nbsp;Deniz Uğur Cengi̇z ,&nbsp;Esra Buğra ,&nbsp;Buşra Mazooğlu ,&nbsp;Almıla Avşar","doi":"10.1016/j.ijporl.2026.112749","DOIUrl":"10.1016/j.ijporl.2026.112749","url":null,"abstract":"<div><h3>Background</h3><div>Subjective Visual Vertical (SVV) and Subjective Visual Horizontal (SVH) tests are useful tests to identify central vestibular tone imbalances.</div></div><div><h3>Aim</h3><div>To determine the normal values of the Subjective Visual Vertical/Subjective Visual Horizontal (SVV/SVH) test in the pediatric group. The normative data were intended to be used as reference values in the vestibular evaluation of patients presenting with balance disorders and complaints of dizziness.</div></div><div><h3>Materials and methods</h3><div>The study included 60 individuals between the ages of 8 and 18. All participants underwent static and dynamic SVV and SVH testing using the Virtualis Virtual Reality device, based on a test-retest protocol with six different initial tilt angles (10°, −10°, 20°, −20°, 30°, −30°). Deviation angles were analyzed.</div></div><div><h3>Results</h3><div>Across all tilt angles, the mean deviation angle ranged from 1.93° to 2.44° for the static SVV test and from 1.73° to 2.31° for the static SVH test. For the dynamic SVV test, the mean deviation angle ranged from 10.47° to 11.42°, while in the dynamic SVH test, it ranged from 7.3° to 8.85° across all tilt angles.</div></div><div><h3>Conclusion</h3><div>As a result of this study, normative values for static and dynamic SVV and SVH tests using the Virtualis Virtual Reality Device were established for use in vestibular assessment in the pediatric population. The study contributes to the current literature by providing updated data, addressing the limited number of studies on static and dynamic SVV and SVH tests in pediatric populations.</div></div>","PeriodicalId":14388,"journal":{"name":"International journal of pediatric otorhinolaryngology","volume":"202 ","pages":"Article 112749"},"PeriodicalIF":1.3,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146137428","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The role of nasopharyngeal airways in Robin sequence: Insights from a retrospective cohort study with review of the literature","authors":"Shirley van de Velde ,&nbsp;Maartje Haasnoot ,&nbsp;Saskia Coenraad ,&nbsp;J. Peter W. Don Griot ,&nbsp;Aebele B. Mink van der Molen ,&nbsp;Emma C. Paes","doi":"10.1016/j.ijporl.2026.112744","DOIUrl":"10.1016/j.ijporl.2026.112744","url":null,"abstract":"","PeriodicalId":14388,"journal":{"name":"International journal of pediatric otorhinolaryngology","volume":"202 ","pages":"Article 112744"},"PeriodicalIF":1.3,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146075223","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Interdisciplinary approach: The importance of dysphagia diagnostics in pediatric patients","authors":"Fabian Kraus,&nbsp;Wafaa Shehata-Dieler,&nbsp;Rudolf Hagen,&nbsp;Stephan Hackenberg","doi":"10.1016/j.ijporl.2026.112724","DOIUrl":"10.1016/j.ijporl.2026.112724","url":null,"abstract":"<div><div>Pediatric dysphagia represents a complex and multifactorial clinical challenge with potentially profound implications for development, nutritional status, pulmonary health, and overall quality of life. In infants and children, the early identification of swallowing difficulties is critical due to their impact on growth trajectories, neurodevelopment, and the psychosocial well-being of both the child and caregivers. This comprehensive article examines the importance of a systematic, interdisciplinary diagnostic approach in evaluating pediatric dysphagia in a university hospital. Based on a ten-year retrospective cohort study involving 223 pediatric patients aged one month to sixteen years, we investigate how the integration of clinical history, physical examination, and state-of-the-art instrumental techniques - such as flexible endoscopic evaluation of swallowing (FEES) - within a collaborative, multi-specialist framework can enhance diagnostic precision. Findings underscore the necessity of individualized, developmentally sensitive diagnostic pathways involving phoniatricions, ENT specialists, pediatricians, speech-language pathologists, radiologists and nutrition experts.</div></div>","PeriodicalId":14388,"journal":{"name":"International journal of pediatric otorhinolaryngology","volume":"202 ","pages":"Article 112724"},"PeriodicalIF":1.3,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145957705","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Tracheal cartilaginous sleeve prevalence in syndromic craniosynostosis: A single institution study","authors":"Roy K. Park ,&nbsp;Katherine Hu ,&nbsp;Zoe H. Fullerton ,&nbsp;Melissa C. Lee ,&nbsp;Rohit K. Khosla ,&nbsp;Karthik Balakrishnan","doi":"10.1016/j.ijporl.2026.112745","DOIUrl":"10.1016/j.ijporl.2026.112745","url":null,"abstract":"<div><h3>Purpose</h3><div>This study aimed to evaluate the incidence of tracheal cartilaginous sleeve (TCS) among syndromic craniosynostosis patients, as well as describe their genetic profiles, associated co-morbidities, and operative outcomes.</div></div><div><h3>Methods</h3><div>We performed a retrospective analysis of syndromic craniosynostosis patients (Apert, Crouzon, and Pfeiffer) at a single tertiary academic center between January 1, 2002, and February 1, 2024.</div></div><div><h3>Results</h3><div>39 patients with syndromic craniosynostosis were identified, with 17 patients (17/39, 43.6%) undergoing airway evaluation. 1 patient (1/17, 5.9%) was diagnosed with TCS, but 5 patients (5/17, 29.4%) had other airway abnormalities, all reflecting abnormalities of the airway wall or some type of airway stenosis. 28 patients (28/39, 73.7%) presented with a diagnosis of OSA, and 7 patients (7/39, 17.9%) of patients presented with choanal anomaly (atresia or stenosis). 32 patients (32/39, 82.1%) had genetic sequencing information available, with the most common mutations affecting p.P253R within the FGFR2 gene in 7 patients. No patients in our cohort presented with a p.W290 mutation and 7 patients presented with a p.C342 mutation, of which 4 patients had the p.C342Y mutation.</div></div><div><h3>Conclusion</h3><div>The true prevalence of TCS may be likely lower than prior reports, which may aid with alleviating some familial anxiety and provide additional context and data for medical counseling and decision-making. Nonetheless, all patients should be strongly recommended to undergo airway evaluation given the risks associated with TCS, the high prevalence of structural airway anomalies, and the overall low risk of airway evaluation.</div></div>","PeriodicalId":14388,"journal":{"name":"International journal of pediatric otorhinolaryngology","volume":"202 ","pages":"Article 112745"},"PeriodicalIF":1.3,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146118488","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical trial assessing the use of optical coherence tomography in decision making for children presenting with acute otitis media","authors":"Joseph E. Kerschner ,&nbsp;Roger A. Daley Jr. ,&nbsp;Roxanne Link ,&nbsp;Rachel M. Jones ,&nbsp;Katherine J. Peterson ,&nbsp;Robert H. Chun ,&nbsp;Valerie A. Flanary ,&nbsp;Michael Gorelik ,&nbsp;Kristina L. Keppel ,&nbsp;Matthew Maksimoski ,&nbsp;Marsha Malloy ,&nbsp;Timothy J. Martin ,&nbsp;Michael E. McCormick ,&nbsp;Thomas C. Robey ,&nbsp;Sadia Ansari ,&nbsp;Grace M. Matoska ,&nbsp;Caroline A. Rupcich ,&nbsp;Marineta L. Saunderson ,&nbsp;Sophie G. Shay ,&nbsp;Cecille Sulman ,&nbsp;Stephen A. Boppart","doi":"10.1016/j.ijporl.2026.112728","DOIUrl":"10.1016/j.ijporl.2026.112728","url":null,"abstract":"<div><h3>Objective</h3><div>To identify the ability of optical coherence tomography (OCT) to assist in the diagnosis and treatment of patients presenting to a primary care provider with signs and symptoms suggesting acute otitis media (AOM).</div></div><div><h3>Design-Setting-Participants</h3><div>An NIH-funded clinical trial was conducted and enrolled 75 children between 1 and under 7 years of age. Children presented with complaints of ear pain or suspected ear infection from their caregiver history to primary care clinics associated with an academic children's hospital. These patients upon presentation were eligible to enroll in the trial. Following a complete history and physical exam, including pneumatic otoscopy (PO), patients were provided with a diagnosis and treatment plan. Diagnoses included: AOM, middle ear effusion without AOM, or no evidence of otitis media with a clear middle ear space. Following this, OCT was performed, and the diagnosis and treatment plan was reassessed using this data.</div></div><div><h3>Results</h3><div>The diagnosis and/or treatment plan changed for 15.3 % of patients following the use of OCT compared with the initial use of PO. The greatest influence was seen in the patient group with MEE without AOM, with 36 % (5/14) of these patients having their diagnosis and/or treatment plan changed after OCT was employed.</div></div><div><h3>Conclusions</h3><div>OCT provides an additional adjunct for primary care providers to enhance visualization of the tympanic membrane and middle ear space. This data, in our clinical trial, resulted in enhanced clinical decision making, in particular for patients with MEE who were not diagnosed with AOM on PO.</div></div><div><h3>Trial registration information</h3><div>Coherent Optical Detection of Middle Ear Disease (OCTII). Clinicaltrials.gov ID number: NCT05353569.</div></div>","PeriodicalId":14388,"journal":{"name":"International journal of pediatric otorhinolaryngology","volume":"202 ","pages":"Article 112728"},"PeriodicalIF":1.3,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145981432","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Molecular markers of pediatric cholesteatoma: A gene expression comparison with adult tissue","authors":"Mack J. Tempero ,&nbsp;Peter Kfoury ,&nbsp;Michael Seipp ,&nbsp;Kelly Otsuka ,&nbsp;Matthew A. Firpo ,&nbsp;Sarah Al Nemer ,&nbsp;Albert H. Park","doi":"10.1016/j.ijporl.2026.112721","DOIUrl":"10.1016/j.ijporl.2026.112721","url":null,"abstract":"<div><h3>Objective</h3><div>This study aims to compare gene expression levels in pediatric versus adult cholesteatoma using bulk RNA sequencing.</div></div><div><h3>Study design</h3><div>Retrospective analysis of prospectively collected human tissue.</div></div><div><h3>Setting</h3><div>Tertiary medical center.</div></div><div><h3>Methods</h3><div>RNA sequencing was performed on 3 pediatric and 3 adult cholesteatoma tissue samples and differentially expressed genes were identified. Gene set enrichment analysis (GSEA) was performed to identify mechanistic pathways and differential cellular reprogramming.</div></div><div><h3>Results</h3><div>Bulk RNA sequencing of 3 pediatric and 3 adult cholesteatoma tissue samples identified 20,298 genes. Differential gene expression analysis revealed 14 genes: 6 downregulated in and 8 upregulated in pediatric cholesteatoma compared to adult tissue. The GSEA revealed 3 gene sets upregulated in pediatric samples compared to adults relevant in cholesteatoma literature: Tumor Necrosis Factor (TNF-α), Transforming Growth Factor Beta (TGF-β, and the Epithelial-Mesenchymal Transition (EMT).</div></div><div><h3>Conclusion</h3><div>Pediatric cholesteatoma has distinct gene expression and pathway enrichment compared to adult disease, involving inflammation and fibrosis. This study highlights the complex inflammatory process seen in pediatric cholesteatoma and suggests molecular markers that could serve as potential therapeutic targets for treatment.</div></div>","PeriodicalId":14388,"journal":{"name":"International journal of pediatric otorhinolaryngology","volume":"202 ","pages":"Article 112721"},"PeriodicalIF":1.3,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145981433","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}