{"title":"Efficacy of <i>Lactococcus lactis</i> 11/19-B1 in a Mouse Model of Allergic Rhinitis.","authors":"Toshihiko Suzuki, Nozomu Miyazaki, Chiaki Ozaki, Mitsuhiro Okano, Hiroshi Ogawa, Tatsuo Suzutani","doi":"10.1055/a-2804-6274","DOIUrl":"https://doi.org/10.1055/a-2804-6274","url":null,"abstract":"<p><strong>Introduction: </strong>Lactococcus lactis (L. lactis) is widely used in fermented foods and has immunomodulatory properties. However, its effects on allergic rhinitis remain unclear.</p><p><strong>Objective: </strong>This study evaluated the efficacy of L. lactis 11/19-B1 in mitigating allergic rhinitis symptoms in a mouse model.</p><p><strong>Methods: </strong>Female BALB/c mice were fed a diet supplemented with heat-killed L. lactis 11/19-B1, while allergic rhinitis was induced via intraperitoneal and intranasal administration of ovalbumin (OVA). The positive control group received a standard diet without L. lactis 11/19-B1. Sneezing frequency was recorded, and tissue samples were collected for analysis. Serum OVA-immunoglobulin E (IgE) levels were also measured, nasal mucosa histopathology assessed, and the interleukin 4 (IL-4), interferon gamma (IFN-γ), T helper (Th) 1/Th2 balance in cluster of differentiation (CD) 4+ T cells analyzed by flow cytometry (FCM).</p><p><strong>Results: </strong>Mice receiving L. lactis 11/19-B1 showed significantly reduced sneezing frequency and decreased eosinophil infiltration in the nasal mucosa. No significant changes in serum OVA-IgE levels were observed. Flow cytometry analysis showed a significant increase in the Th1/Th2 ratio in Peyer's patches in the L. lactis 11/19-B1 group compared with the positive control group.</p><p><strong>Conclusion: </strong>These findings suggest that L. lactis 11/19-B1 alleviates allergic rhinitis symptoms by modulating the Th1/Th2 balance and reducing eosinophil infiltration, independently of IgE suppression. These findings highlight its potential as a dietary supplement for allergic disease management .</p>","PeriodicalId":13731,"journal":{"name":"International Archives of Otorhinolaryngology","volume":"30 3","pages":"1-7"},"PeriodicalIF":1.1,"publicationDate":"2026-08-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13476103/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148758990","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Son Bao Nguyen, Chat Ngoc Pham, Vinh Thanh Nguyen, Minh Thieu Quach
{"title":"Aditus ad Antrum on Normal Temporal Bone CT Scan.","authors":"Son Bao Nguyen, Chat Ngoc Pham, Vinh Thanh Nguyen, Minh Thieu Quach","doi":"10.1055/a-2825-9870","DOIUrl":"https://doi.org/10.1055/a-2825-9870","url":null,"abstract":"<p><strong>Introduction: </strong>The aditus ad antrum is a structure located on the posterior wall of the tympanic cavity, connecting the epitympanum and mastoid antrum, playing a role in ventilating the mastoid antrum and air cells. However, there is limited in-depth research on this structure.</p><p><strong>Objective: </strong>To study the anatomy and morphology of the aditus ad antrum and evaluate its correlation with mastoid pneumatization using 3D MPR-reconstructed CT scans.</p><p><strong>Methods: </strong>This cross-sectional descriptive study was conducted using 101 normal temporal bone CT scans (190 ears) from individuals aged 16 years or older in Vietnam. The aditus was examined in three planes (axial, coronal, and sagittal) using 3D MPR reconstruction.</p><p><strong>Results: </strong>The aditus ad antrum morphology was classified into four groups, with group 2 being the most prevalent (48.42%). There was no correlation between aditus morphology and gender or ear side. Additionally, no relationship was found between mastoid pneumatization and aditus morphology. With increasing mastoid pneumatization, aditus ad antrum dimensions change. In individuals with two normal ears ( <i>N</i> = 89), bilateral symmetry in aditus morphology was observed in 45% of cases. No significant differences were found in aditus dimensions between ears. The mean transverse diameter of the aditus in males was significantly larger than in females ( <i>p</i> < 0.05). The anterior-posterior diameter of the right ear was significantly greater than the left in the same individual ( <i>p</i> < 0.05).</p><p><strong>Conclusion: </strong>The aditus ad antrum may differ between the left and right ears in normal individuals and is not associated with mastoid pneumatization.</p>","PeriodicalId":13731,"journal":{"name":"International Archives of Otorhinolaryngology","volume":"30 3","pages":"1-7"},"PeriodicalIF":1.1,"publicationDate":"2026-08-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13476100/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148760329","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Geraldo Pereira Jotz, Arthur Viana Jotz, Silvia Dornelles, Leandro Castro Velasco, Luciana Fernandes Costa, Luciana Miwa Nita Watanabe, Thais Gonçalves Pinheiro Vilela, Eliézia Helena de Lima Alvarenga, Evaldo Dacheux de Macedo Filho, Dayse Manrique, Vanessa Santos Elias, Lucia Mourão, Ana Maria Furkim, Natasha Marcarenhas Andrade Braga, Roberta Gonçalves da Silva, Rosane Sampaio Santos, Elisabete Carrara de Angelis
{"title":"What the \"Voices\" of Dysphagia Are Thinking about Its Future.","authors":"Geraldo Pereira Jotz, Arthur Viana Jotz, Silvia Dornelles, Leandro Castro Velasco, Luciana Fernandes Costa, Luciana Miwa Nita Watanabe, Thais Gonçalves Pinheiro Vilela, Eliézia Helena de Lima Alvarenga, Evaldo Dacheux de Macedo Filho, Dayse Manrique, Vanessa Santos Elias, Lucia Mourão, Ana Maria Furkim, Natasha Marcarenhas Andrade Braga, Roberta Gonçalves da Silva, Rosane Sampaio Santos, Elisabete Carrara de Angelis","doi":"10.1055/s-0046-1822811","DOIUrl":"10.1055/s-0046-1822811","url":null,"abstract":"","PeriodicalId":13731,"journal":{"name":"International Archives of Otorhinolaryngology","volume":"30 2","pages":"1-4"},"PeriodicalIF":1.1,"publicationDate":"2026-06-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13229581/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148156282","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Manoel de Nobrega, Daniela Carvalho, José Faibes Lubianca Neto
{"title":"Adherence to International Guidelines in Pediatric Tonsillectomy: A National Survey among Brazilian Otolaryngologists.","authors":"Manoel de Nobrega, Daniela Carvalho, José Faibes Lubianca Neto","doi":"10.1055/a-2801-7896","DOIUrl":"10.1055/a-2801-7896","url":null,"abstract":"<p><strong>Introduction: </strong>The present study aimed to evaluate the adherence of Brazilian otolaryngologists to key recommendations from contemporary international tonsillectomy guidelines, particularly the 2019 Clinical Practice Guideline by Mitchell et al.</p><p><strong>Objective: </strong>To evaluate how Brazilian otorhinolaryngologists perform tonsillectomies and manage potential postoperative complications.</p><p><strong>Methods: </strong>An online questionnaire was developed and completed by otorhinolaryngologists affiliated with relevant medical associations.</p><p><strong>Results: </strong>Revealed that 40.4% of surgeons had over 20 years of experience, indicating substantial expertise. Primary indications for tonsillectomy included snoring, hypertrophy, and recurrent tonsillitis. Diagnostic criteria for acute bacterial tonsillitis and obstructive sleep apnea were analyzed, with 35% of respondents considering episode frequency a key criterion. Polysomnography was requested in specific cases, reflecting concerns about respiratory severity.</p><p><strong>Conclusion: </strong>The present study provides the first comprehensive analysis of the adoption of international guidelines for tonsillectomy in Brazil. We conclude that, although the Brazilian otolaryngology community has adopted key recommendations regarding diagnosis and postoperative care, deeply entrenched deviations persist in technical aspects and intraoperative medication. These latter aspects represent opportunities for educational interventions, resource mobilization, and the development of adapted national guidelines that take local realities into account, with the ultimate goal of standardizing and improving the quality of care for all children undergoing tonsillectomy in the country.</p>","PeriodicalId":13731,"journal":{"name":"International Archives of Otorhinolaryngology","volume":"30 2","pages":"1-8"},"PeriodicalIF":1.1,"publicationDate":"2026-05-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13189703/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147987379","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Exploring the Link Between Tinnitus and Loudness Intolerance.","authors":"Agnes Yohannan, Archana Gundmi","doi":"10.1055/s-0046-1819562","DOIUrl":"10.1055/s-0046-1819562","url":null,"abstract":"<p><strong>Introduction: </strong>A ringing sensation in the ear is referred to as tinnitus. It is one of the common symptoms associated with hearing loss. It can be associated even with loudness-related conditions, such as hyperacusis.</p><p><strong>Objective: </strong>To investigate the relationship between tinnitus and hyperacusis in individuals with normal hearing and up-to-mild hearing loss, focusing on the manifestation of loudness intolerance.</p><p><strong>Methods: </strong>The Tinnitus Handicap Inventory (THI) was administered among 35 adults having primary complaints of tinnitus with normal hearing and up-to-mild hearing loss. Further, the Modified Khalfa Hyperacusis Questionnaire (M-HQ) was used to evaluate the hyperacusis severity among the same individuals. Spearman's correlation coefficient was used to check the correlation between tinnitus and hyperacusis severity.</p><p><strong>Results: </strong>Of the 35 adults who reported tinnitus, 18 (51.4%) of them reported having hyperacusis. The outcome of Spearman's correlation indicated a moderate positive correlation between the THI and M-HQ scores r <sub>s </sub> = 0.401( <i>p</i> = 0.017).</p><p><strong>Conclusion: </strong>The results obtained suggest that tinnitus is associated with hyperacusis. With the subjective evaluation, it is clear that the change in the severity of tinnitus perception is interconnected with the perception of hyperacusis severity. But this relationship is not a completely overlapping one. Future research on the comorbid interplay of tinnitus severity and hyperacusis severity may shed further light on this link.</p>","PeriodicalId":13731,"journal":{"name":"International Archives of Otorhinolaryngology","volume":"30 2","pages":"1-6"},"PeriodicalIF":1.1,"publicationDate":"2026-05-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13189702/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147987339","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Sucheta Bagri, Rajan B Godwin, Ashish Gupta, Shivank Sethi, Neeraj Narang, Sanjay Kumar Yadav, Dhananjaya Sharma
{"title":"Enhanced Analgesia and Reduced Opioid Use with Dexmedetomidine-Ropivacaine for Superficial Cervical Plexus Block in Thyroidectomy: A Randomized Controlled Study.","authors":"Sucheta Bagri, Rajan B Godwin, Ashish Gupta, Shivank Sethi, Neeraj Narang, Sanjay Kumar Yadav, Dhananjaya Sharma","doi":"10.1055/s-0046-1819561","DOIUrl":"10.1055/s-0046-1819561","url":null,"abstract":"<p><strong>Abstract: </strong></p><p><strong>Introduction: </strong>There are concerns about addiction to opioids due to excessive prescription after surgery.</p><p><strong>Objective: </strong>We compared the impact of dexmedetomidine as an additive to ropivacaine for bilateral cervical plexus block to that of ropivacaine alone for postoperative analgesia in patients undergoing thyroidectomy.</p><p><strong>Methods: </strong>A total of 60 patients were randomized in 2 groups: those submitted to bilateral superficial cervical plexus block (BSCPB) using 0.375% ropivacaine (group BSCPB-R, the control group) and those submitted to BSCPB using 0.375% ropivacaine with 1mcg/kg of dexmedetomidine (group BSCPB-RD, the study group). The resultant postoperative analgesia was compared by the morphine milligram equivalents (MMEs) required by each patient.</p><p><strong>Results: </strong>Only 3 (10%) patients in the BSCPB-R group and 2 (6.6%) patients in the BSCPB-RD group required opioid analgesia. The mean total rescue opioid required in the first 24 hours was significantly higher in group BSCPB-R compared to group BSCPB-RD (20 ± 8.14 versus 8 ± 2.85 MME respectively; <i>p</i> = 0.0001). Similarly, the mean total MMEs required during the first 5 days after surgery was of 38 ± 16.4 for group BSCPB-R and 18 ± 8 for group BSCPB-RD ( <i>p</i> = 0.0001).</p><p><strong>Conclusion: </strong>The combination of dexmedetomidine and ropivacaine in the BSCPB protocol results in a lower requirement of opioids for pain in the postoperative period, and very few (if any) patients undergoing thyroid surgery require postoperative opioids with this strategy.</p>","PeriodicalId":13731,"journal":{"name":"International Archives of Otorhinolaryngology","volume":"30 2","pages":"1-6"},"PeriodicalIF":1.1,"publicationDate":"2026-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13155926/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147868363","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Re-envisioning the Concept of Styalgia and Styloidectomy.","authors":"Kavya Sivapuram, Prakash Bhadravathi Ganesh, Ambale Rudrappa Babu, Sandhya Dharmarajan, Bharathi M B, Sandeep Shetty","doi":"10.1055/s-0046-1817133","DOIUrl":"10.1055/s-0046-1817133","url":null,"abstract":"<p><strong>Introduction: </strong>Prevalence of elongated styloid process (SP) is 4% and only 4-10% of these patients are symptomatic. In this study morphology was assessed among the patients unlike the dry skulls. Comparison of elongation and angulation of SP between the case and control groups, as well as symptomatic correlation was done. This study also imparts information regarding symptomatic outcomes following medical and surgical management.</p><p><strong>Objective: </strong>To compare the anatomical variations in SP morphology and symptomatology in patients with and without stylalgia.</p><p><strong>Methods: </strong>A prospective study was done over a period of 1.5 years on 84 participants. The required details were recorded. Radio-imaging was done through Towne's and lateral view of skull X-rays to measure length, as well as medial and anterior angulations. Pain assessment was done with the visual analogue scale before and after conservative or surgical managements.</p><p><strong>Results: </strong>Mean age of participants was 37.2 ± 8.8 years, with a female preponderance. The most common symptom was recurrent oropharyngeal pain (67.8%). Elongated SP was observed in the case group with a mean length of 4.07 cm, compared with 2.36 cm in controls. The mean medial angulation of the SP was of 21.28° in the case group and of 16.77° in the controls. Anterior angulation in the case group was of 32.19°, compared with 21.74° in the controls. A statistically significant difference was noted in in length, medial and anterior angulations in the case group when compared with controls.</p><p><strong>Conclusion: </strong>Symptomatic elongated SP is a complex condition for many patients. Its precise identification will aid in early recovery from symptoms. Surgical management showed better symptomatic outcomes.</p><p><strong>Level of evidence: </strong>Level 3.</p>","PeriodicalId":13731,"journal":{"name":"International Archives of Otorhinolaryngology","volume":"30 2","pages":"1-7"},"PeriodicalIF":1.1,"publicationDate":"2026-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13155922/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147868418","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Bianca Simone Zeigelboim, Bianca L Cavalcante-Leão, Alice Helena de Lima Santos Cardoso, Rosane Sampaio Santos, Helio Afonso Ghizoni Teive, Karinna Verissimo Meira Taveira, Geslaine Janaina Bueno Dos Santos, Maria Izabel Rodrigues Severiano, Vanessa Luisa Destro Fidêncio, Cristiano Miranda de Araujo
{"title":"Effects of Vestibular Rehabilitation with Virtual Reality in Adults with Vestibular Dysfunction: A Systematic Review and Meta-Analysis.","authors":"Bianca Simone Zeigelboim, Bianca L Cavalcante-Leão, Alice Helena de Lima Santos Cardoso, Rosane Sampaio Santos, Helio Afonso Ghizoni Teive, Karinna Verissimo Meira Taveira, Geslaine Janaina Bueno Dos Santos, Maria Izabel Rodrigues Severiano, Vanessa Luisa Destro Fidêncio, Cristiano Miranda de Araujo","doi":"10.1055/s-0046-1819714","DOIUrl":"10.1055/s-0046-1819714","url":null,"abstract":"<p><strong>Introduction: </strong>Virtual reality is a tool used in the rehabilitation of neurodegenerative diseases and vestibular disorders, enabling immersion in a playful and illusory world.</p><p><strong>Objective: </strong>To determine the effects of vestibular rehabilitation with virtual reality in adults with vestibular disorders.</p><p><strong>Data synthesis: </strong>Appropriate word combinations were selected and tailored specifically to seven electronic databases. Studies that investigated vestibular rehabilitation with virtual reality in individuals > 18-years-old and diagnosed with vestibular dysfunction were included. The risk of bias and the certainty of the evidence was assessed. A random-effects meta-analysis was performed, with a total of 18 articles included. There was an improvement in the level of confidence in balance scores between baseline and postintervention of 11.22 (95% CI = 8.55-13.88; I <sup>2</sup> = 18%). An improvement in the disabling effects caused by dizziness was also observed, with a difference between means in relation to the two periods of -22.76 (95% CI = -28.70 to -16.82; I <sup>2</sup> = 88%). The certainty of evidence assessment was very low.</p><p><strong>Conclusion: </strong>Virtual reality therapy in vestibular disorders has shown efficient results, being a useful, low-cost, and motivating tool in the treatment of these disorders.</p>","PeriodicalId":13731,"journal":{"name":"International Archives of Otorhinolaryngology","volume":"30 2","pages":"1-14"},"PeriodicalIF":1.1,"publicationDate":"2026-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13288422/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148316925","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Rafael Casañas, Isabel González-Esmorís, Jose Cabrera, Víctor Pérez-Candela, Pedro Saavedra, José Larena-Avellaneda
{"title":"The Temporomandibular Joint Compromise (TMJC) as a Cause of Otoneurological Symptoms: Headaches, Dizziness and Tinnitus.","authors":"Rafael Casañas, Isabel González-Esmorís, Jose Cabrera, Víctor Pérez-Candela, Pedro Saavedra, José Larena-Avellaneda","doi":"10.1055/s-0046-1819593","DOIUrl":"10.1055/s-0046-1819593","url":null,"abstract":"<p><strong>Introduction: </strong>The prevalence of temporomandibular disorders in the population with chronic or recurrent headaches is too high for a relationship not to exist. Publications propose the examination of the masticatory system in all patients with headache.</p><p><strong>Objective: </strong>To introduce a new entity within temporomandibular disorders, temporomandibular joint compromise (TMJC), mandibular movement limiting pathology of extra-articular traumatic cause, and evaluate the response rate and safety of treatment. The limiting cause of mandibular movement is the lack of space between the mandibular ramus and maxilla. The main symptoms of TMJC include headache, dizziness, and tinnitus. In many cases, the headache is previously diagnosed as a migraine.</p><p><strong>Methods: </strong>Data were collected from 54 patients aged between 6 and 59 years who had a confirmed diagnosis of migraine (according to the the International Classification of Headache Disorders, 3rd edition [ICHD3]) and were treated for TMJC in a dental clinic. They also presented other otolaryngological symptoms. A retrospective quasi-experimental study without a control group was carried out due to ethical considerations related to the harmless nature of the treatment.</p><p><strong>Results: </strong>After treatment of TMJC, migraine symptoms disappeared in 52 patients (96.3%, <i>p</i> < 0.001) and persisted, although with clinical improvement, in 2 (3.7%). There was also an improvement in the other associated symptoms: dizziness disappeared in 23 out of the 27 affected patients (85.21%, <i>p</i> < 0.001) and tinnitus disappeared in the 31 affected patients (100%, <i>p</i> < 0.001). No significant treatment-related side effects were observed.</p><p><strong>Conclusion: </strong>The present study shows the high rate of response and safety of the treatment of TMJC.</p>","PeriodicalId":13731,"journal":{"name":"International Archives of Otorhinolaryngology","volume":"30 2","pages":"1-10"},"PeriodicalIF":1.1,"publicationDate":"2026-05-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13143835/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147837612","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Karina Lezirovitz, Danillo Alencar-Coutinho, Stella Diogo-Cavassana, Rafaella Abreu-Oberhuber, Juliana Sampaio-Silva, Maria Eduarda Paramo-Neto, Regina Célia Mingroni-Netto, Carlos Kazuo Taguchi, Ronaldo Carvalho Santos-Junior, Ana Carla Batissoco, Jeanne Oiticica, Ricardo Ferreira Bento
{"title":"A Structural Variant in the 5' Regulatory Region of <i>DIAPH3</i> Segregates with Postlingual Hearing Loss and Auditory Neuropathy in a Multigenerational Brazilian Family.","authors":"Karina Lezirovitz, Danillo Alencar-Coutinho, Stella Diogo-Cavassana, Rafaella Abreu-Oberhuber, Juliana Sampaio-Silva, Maria Eduarda Paramo-Neto, Regina Célia Mingroni-Netto, Carlos Kazuo Taguchi, Ronaldo Carvalho Santos-Junior, Ana Carla Batissoco, Jeanne Oiticica, Ricardo Ferreira Bento","doi":"10.1055/a-2832-6312","DOIUrl":"10.1055/a-2832-6312","url":null,"abstract":"<p><strong>Introduction: </strong>Hearing loss is genetically diverse, as it is caused by alterations in many genes and diverse inheritance patterns. While most causative variants are found in coding regions, noncoding regulatory variants can alter gene expression and may not be detected by standard exome sequencing analysis.</p><p><strong>Objective: </strong>To identify the genetic cause of autosomal dominant postlingual hearing loss in a large Brazilian family with 39 affected individuals and to describe their clinical features.</p><p><strong>Methods: </strong>Comprehensive audiological and imaging evaluations were conducted. Whole-exome sequencing on four affected subjects, supplemented by structural-variant analysis, identified a candidate variant later confirmed by quantitative polymerase chain reaction (qPCR), PCR, and Sanger sequencing.</p><p><strong>Results: </strong>Audiological testing of 61 relatives identified 31 individuals with progressive sensorineural hearing loss or auditory neuropathy linked to autosomal dominant inheritance. Genetic analysis revealed a <i>DIAPH3</i> 5'UTR deletion-insertion (c.-216_-46delinsAAGAA) that perfectly cosegregated with this specific phenotype. Notably, eight other affected relatives exhibited different clinical forms of hearing loss but did not carry the <i>DIAPH3</i> variant, suggesting separate underlying causes for their symptoms.</p><p><strong>Conclusion: </strong>Identification of this regulatory structural variant supports the role of <i>DIAPH3</i> in the etiological diagnosis of postlingual hearing loss and auditory neuropathy, with direct implications for genetic counseling and clinical management.</p>","PeriodicalId":13731,"journal":{"name":"International Archives of Otorhinolaryngology","volume":"30 2","pages":"1-11"},"PeriodicalIF":1.1,"publicationDate":"2026-05-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13288208/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148316869","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}