International journal of pediatric otorhinolaryngology最新文献_第3页

Mutation spectrum of GJB2, SLC26A4 and mtDNA12SrRNA genes in non-syndromic hearing loss patients from Gansu, China

IF 1.2 4区医学

International journal of pediatric otorhinolaryngology Pub Date : 2025-03-04 DOI: 10.1016/j.ijporl.2025.112298

Shihong Duan, Yuan Hou, Yong Li, Yufen Guo

{"title":"Mutation spectrum of GJB2, SLC26A4 and mtDNA12SrRNA genes in non-syndromic hearing loss patients from Gansu, China","authors":"Shihong Duan, Yuan Hou, Yong Li, Yufen Guo","doi":"10.1016/j.ijporl.2025.112298","DOIUrl":"10.1016/j.ijporl.2025.112298","url":null,"abstract":"<div><h3>Objective</h3><div>This study examined the mutation spectrum and frequency of three prevalent pathogenic genes in patients with non-syndromic hearing loss (NSHL) from Gansu Province, China.</div></div><div><h3>Methods</h3><div>We analyzed 452 NSHL patients from five special education schools across several cities in Gansu Province using SNPscan technology to determine the mutation spectrum of <em>mtDNA 12S rRNA</em>, <em>GJB2</em>, and <em>SLC26A4</em> genes.</div></div><div><h3>Results</h3><div>Among the 452 patients evaluated, mutations in the <em>GJB2</em> gene were observed in 91 cases (20.13 %), mutations in the <em>SLC26A4</em> gene in 81 cases (17.92 %), and homoplasmic mutations in mtDNA 12S rRNA in 26 cases (5.75 %). Significant differences in <em>GJB2</em> mutations were observed between Han patients and those of Hui, Tibetan and Mongolian ethnicity (χ<sup>2</sup> = 4.554, p = 0.033; χ<sup>2</sup> = 3.987, p = 0.046; χ<sup>2</sup> = 4.041, p = 0.044), as well as in <em>SLC26A4</em> gene mutations between Han patients and both Hui and Tu patients (χ<sup>2</sup> = 4.247, p = 0.039; p = 0.035, two-sided). <em>MT-RNR1</em> mutations were exclusively identified in Tibetans, Han, and Hui patients.</div></div><div><h3>Conclusion</h3><div>Our findings demonstrate variations in the mutation spectra of the <em>GJB2</em>, <em>SLC26A4</em>, and <em>mtDNA 12S rRNA</em> genes across different ethnic groups, highlighting ethnic variations in mutation prevalence. This study expands the understanding of the genetic mutation spectrum associated with deafness in Gansu and supports the enhancement of molecular diagnostic accuracy for diverse ethnic populations in the region.</div></div>","PeriodicalId":14388,"journal":{"name":"International journal of pediatric otorhinolaryngology","volume":"191 ","pages":"Article 112298"},"PeriodicalIF":1.2,"publicationDate":"2025-03-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143549920","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}

引用次数: 0

Management of middle ear disease in pediatric primary ciliary dyskinesia

IF 1.2 4区医学

International journal of pediatric otorhinolaryngology Pub Date : 2025-03-04 DOI: 10.1016/j.ijporl.2025.112297

Ethan G. Muhonen , Austin Zhu , Sera Sempson , Samantha Bothwell , Scott D. Sagel , Kenny H. Chan

{"title":"Management of middle ear disease in pediatric primary ciliary dyskinesia","authors":"Ethan G. Muhonen , Austin Zhu , Sera Sempson , Samantha Bothwell , Scott D. Sagel , Kenny H. Chan","doi":"10.1016/j.ijporl.2025.112297","DOIUrl":"10.1016/j.ijporl.2025.112297","url":null,"abstract":"<div><h3>Introduction</h3><div>Primary ciliary dyskinesia (PCD) adversely affects the middle ear from early childhood resulting in otitis media with effusion (OME) and conductive hearing loss (CHL). Chronic otorrhea and tympanic membrane (TM) perforation are serious postoperative complications from tympanostomy tube (TT) placement. Management of OME and CHL has been debated for decades. This study reports on a proposed management schema for the middle ear in individuals with PCD.</div></div><div><h3>Methods</h3><div>A pediatric PCD cohort was retrospectively reviewed at Children's Hospital Colorado (CHCO) using electronic health record systems. Paired middle-ear/audiologic data for all subjects at their most recent CHCO visits were organized in a 4-age-group grid to compare clinical/audiologic outcomes between no-TT and TT subgroups.</div></div><div><h3>Results</h3><div>68 PCD subjects with middle-ear and audiologic data were tabulated. No-TT and TT subgroup comparisons showed no difference in clinical (normal TM and OME prevalence) and hearing [CHL percentage and pure-tone average (PTA)] outcomes across 4 age-groups except for higher percentage of normal TM (10 to <15 years category; p = 0.006) and fewer hearing loss ears (≥15 years category; p = 0.008), both favoring the no-TT subgroup. There were 9/13 (subjects/ears) in the TT subgroup with TM perforations, and a total of 130 sets of TT and other medical/surgical procedures were performed in this sub-cohort.</div></div><div><h3>Conclusion</h3><div>Children with PCD have a high prevalence of otologic complications. A schema is proposed to restrict the indications for TT placement and guide active management of CHL with the goal of preventing adverse sequalae of OME and achieving best clinical outcomes.</div></div>","PeriodicalId":14388,"journal":{"name":"International journal of pediatric otorhinolaryngology","volume":"192 ","pages":"Article 112297"},"PeriodicalIF":1.2,"publicationDate":"2025-03-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143576767","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}

引用次数: 0

Cochlear Implant in Prelingual Children: Predicting the First-word Utterance from LittlEARS Auditory Questionnaire

IF 1.2 4区医学

International journal of pediatric otorhinolaryngology Pub Date : 2025-03-03 DOI: 10.1016/j.ijporl.2025.112294

Nihal Hisham Abdelhamid , Mohammad Mostafa Gaballah , Moataz Abdel Baky , Rahma Sweedy

{"title":"Cochlear Implant in Prelingual Children: Predicting the First-word Utterance from LittlEARS Auditory Questionnaire","authors":"Nihal Hisham Abdelhamid , Mohammad Mostafa Gaballah , Moataz Abdel Baky , Rahma Sweedy","doi":"10.1016/j.ijporl.2025.112294","DOIUrl":"10.1016/j.ijporl.2025.112294","url":null,"abstract":"<div><h3>Objective</h3><div>The LittlEARS Auditory Questionnaire (LEAQ) is a reliable tool for assessing children's auditory development. This study investigates the expected time for the first-word utterance in children with cochlear implant (CI) based on the LEAQ score.</div></div><div><h3>Methods</h3><div>An observational study was conducted on 94 children (50 males and 44 females) with bilateral severe to profound sensorineural hearing loss (SNHL) who underwent CI surgery at a tertiary center between January 2022 and November 2024. The study included children with prelingual hearing loss and satisfactory auditory responses post-surgery, while those with post-lingual onset or an intelligence quotient (IQ) below 85 were excluded. The LEAQ was applied every 3 months postoperatively. The total score was calculated from all ‘yes’ answers, and hearing age was determined until the child uttered their first word.</div></div><div><h3>Results</h3><div>Children were expected to utter their first word at an average LEAQ score of 11.3 ± 4.1 and an average hearing age of 0.8 ± 0.5 years. The average chronological age at first-word utterance was 4.0 ± 1.1 years, when the average implantation age was 3.3 ± 1.1 years. Significant positive correlations were found between the LEAQ score and the chronological and hearing ages at first-word utterance. The age of implantation did not significantly affect the LEAQ score.</div></div><div><h3>Conclusion</h3><div>The first-word development among CI children is predicted by the LEAQ score, influenced by the child's chronological age and duration of CI use. While the age at which the child underwent the implantation seemed to be a non-significant predictor.</div></div>","PeriodicalId":14388,"journal":{"name":"International journal of pediatric otorhinolaryngology","volume":"192 ","pages":"Article 112294"},"PeriodicalIF":1.2,"publicationDate":"2025-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143576769","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}

引用次数: 0

Corrigendum to “Factors influencing auditory brainstem response changes in infants” [Int. J. Pediatr. Otorhinolaryngol. Volume185/issue details, cover date, 112094] “影响婴儿听觉脑干反应变化的因素”的勘误表[j]。j . Pediatr。Otorhinolaryngol。卷185/发行详情，封面日期，112094]。

IF 1.2 4区医学

International journal of pediatric otorhinolaryngology Pub Date : 2025-03-01 DOI: 10.1016/j.ijporl.2024.112206

Tomoko Esaki , Tadao Yoshida , Masumi Kobayashi , Kyoko Morimoto , Chisa Shibata , Michihiko Sone

引用次数: 0

Retraction notice to “Outcomes and considerations in children with developmental delay undergoing tonsillectomy” [Int. J. Pediatr. Otorhinolaryngol. 164 (January 2023) 111393] 撤回通知

IF 1.2 4区医学

International journal of pediatric otorhinolaryngology Pub Date : 2025-03-01 DOI: 10.1016/j.ijporl.2023.111839

Jordan B. Luttrell, Chad A. Nieri, Madhu Mamidala, Anthony Sheyn

引用次数: 0

Corrigendum to “A review of the importance of top-down processing assessment in auditory processing disorder” [Int. J. Pediatr. Otorhinolaryngol. 186, (November 2024), 112128] 关于 "听觉处理障碍中自上而下处理评估重要性的综述 "的更正 [Int. J. Pediatr. Otorhinolaryngol.

IF 1.2 4区医学

International journal of pediatric otorhinolaryngology Pub Date : 2025-03-01 DOI: 10.1016/j.ijporl.2024.112202

Bahareh Khavarghazalani , Zahra Hosseini Dastgerdi , Morteza Hamidi Nahrani , Maryam Emadi

引用次数: 0

Corrigendum to “Efficacy of endoscopic sinus surgery in patients under six years old” [Int. J. Pediatr. Otorhinolaryngol. 188 (2025) 112213]

IF 1.2 4区医学

International journal of pediatric otorhinolaryngology Pub Date : 2025-03-01 DOI: 10.1016/j.ijporl.2025.112256

Chloe Harrington, Ibrahim Ibrahim, Hengameh Bezadpour, Alexandra Espinel, Habib Zalzal

引用次数: 0

Laryngomalacia: Not just an infant disease

IF 1.2 4区医学

International journal of pediatric otorhinolaryngology Pub Date : 2025-02-27 DOI: 10.1016/j.ijporl.2025.112291

Leon Joseph , Shmuel Goldberg , Shlomo Cohen , Gabrielle Aschkenasy , Elie Picard

{"title":"Laryngomalacia: Not just an infant disease","authors":"Leon Joseph , Shmuel Goldberg , Shlomo Cohen , Gabrielle Aschkenasy , Elie Picard","doi":"10.1016/j.ijporl.2025.112291","DOIUrl":"10.1016/j.ijporl.2025.112291","url":null,"abstract":"<div><h3>Aim</h3><div>Laryngomalacia is the most common congenital anomaly of the larynx and is regarded as a process that resolves by the age of two years. The aim of the current study was to assess the prevalence of laryngomalacia beyond the age of 2 years, to describe its clinical characteristics and to identify risk factors.</div></div><div><h3>Methods</h3><div>We retrospectively reviewed all bronchoscopies performed over a 3 year period. We compared the prevalence of laryngomalacia between children younger and older than 2 years of age. We also compared the presenting symptoms and co-morbidities between the two age groups.</div></div><div><h3>Results</h3><div>Laryngomalacia was diagnosed in 167 (27 %) out of 618 pediatric bronchoscopies. Among the patients with laryngomalacia, 125 (75 %) were less than 2 years old and 42 (25 %) were more than 2 years old. Older children with laryngomalacia were more likely to present with snoring than stridor (44 % vs 24 %) and had more co-morbidities (48 % vs 22 %) than the younger group.</div></div><div><h3>Conclusions</h3><div>Laryngomalacia is not rare in children older than 2 years of age. Co-morbidities are reported frequently in these children. Snoring is a more common symptom in this age group. Further complementary prospective studies are necessary to confirm our observations.</div></div>","PeriodicalId":14388,"journal":{"name":"International journal of pediatric otorhinolaryngology","volume":"191 ","pages":"Article 112291"},"PeriodicalIF":1.2,"publicationDate":"2025-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143549918","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}

引用次数: 0

Primary vs. secondary closure of tracheocutaneous fistulas: A prospective cohort study

IF 1.2 4区医学

International journal of pediatric otorhinolaryngology Pub Date : 2025-02-26 DOI: 10.1016/j.ijporl.2025.112293

Alisa Timashpolsky , Luv Javia , Ian Jacobs , Conor Devine , Terri Giordano , Karen B. Zur , Ryan Borek , Steven Sobol

{"title":"Primary vs. secondary closure of tracheocutaneous fistulas: A prospective cohort study","authors":"Alisa Timashpolsky , Luv Javia , Ian Jacobs , Conor Devine , Terri Giordano , Karen B. Zur , Ryan Borek , Steven Sobol","doi":"10.1016/j.ijporl.2025.112293","DOIUrl":"10.1016/j.ijporl.2025.112293","url":null,"abstract":"<div><h3>Objective</h3><div>To prospectively compare outcomes and complications of the two most common techniques for closure of tracheocutaneous fistulas (TCFs): surgical excision of the tract with primary closure (PC), and de-epithelialization with healing by secondary intention (SI).</div></div><div><h3>Study design</h3><div>Prospective cohort study.</div></div><div><h3>Setting</h3><div>Tertiary academic center.</div></div><div><h3>Methods</h3><div>All patients who underwent closure of a TCF between 5/1/2022 and 5/30/2023 were eligible for inclusion in the study. Data was prospectively collected and included demographics, tracheostomy history, intraoperative data (including fistula size and closure technique), postoperative recovery and any complications.</div></div><div><h3>Results</h3><div>There were 15 patients who underwent PC, and 10 patients who underwent closure by SI. Both cohorts were premature and had tracheostomies for at least 2 years prior to decannulation. The length of time from decannulation to closure was longer in the primary vs secondary group (p = .01). The operative time was significantly longer in the PC group (p = .002) and the PC group experienced a significantly higher number of postoperative respiratory complications (p = .05) during their postoperative admission. The average TCF size was larger in the SI group compared to the PC group (p < 0.001).</div></div><div><h3>Conclusion</h3><div>This prospective study demonstrated fewer postoperative respiratory complications for SI closure of TCFs compared to PC.</div></div>","PeriodicalId":14388,"journal":{"name":"International journal of pediatric otorhinolaryngology","volume":"191 ","pages":"Article 112293"},"PeriodicalIF":1.2,"publicationDate":"2025-02-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143549919","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}

引用次数: 0

Platinum-induced ototoxicity in pediatric patients with solid tumors: Younger and male children are more susceptible

IF 1.2 4区医学

International journal of pediatric otorhinolaryngology Pub Date : 2025-02-26 DOI: 10.1016/j.ijporl.2025.112292

Jie Bai , Yao Song , Xuetong Wang , Zhihan Lin , Yi Zhou , Xin Jin , Ying Li , Zhipeng Zheng , Xueyao Wang , Jifeng Shi , Haihong Liu

{"title":"Platinum-induced ototoxicity in pediatric patients with solid tumors: Younger and male children are more susceptible","authors":"Jie Bai , Yao Song , Xuetong Wang , Zhihan Lin , Yi Zhou , Xin Jin , Ying Li , Zhipeng Zheng , Xueyao Wang , Jifeng Shi , Haihong Liu","doi":"10.1016/j.ijporl.2025.112292","DOIUrl":"10.1016/j.ijporl.2025.112292","url":null,"abstract":"<div><div>The purpose of this study was to explore prevalence and risk factors of platinum drug-induced ototoxicity, delineate the severity of ototoxicity, and quantify the cumulative dose of platinum-based drugs, in China. This retrospective study involved 108 pediatric solid tumor patients who underwent platinum-containing chemotherapy. We utilized logistics regression to identify risk factors. A threshold for the cumulative dose of platinum-drugs was determined by ROC (receiver operating characteristic curve). The hearing thresholds across sex and age groups were examined. Overall, 37.04 % of patients had ototoxicity as measured audiometrically. The prevalence of males (46.43 %, p = .036) was higher than that of females. The cumulative dose of cisplatin was the most significant risk factor for ototoxicity (p = .002, OR = 1.29, per 100 mg/mm<sup>2</sup>). The cut-off value for the cisplatin cumulative dose was 220 mg/m<sup>2</sup>. Another risk factor is male (p = .037, OR = 2.54). The hearing thresholds at 8 kHz were higher in males (61.81 ± 15.05 dB HL; p = .042)than in females. The group of patients≤3 years old showed more pronounced ototoxicity at 6 kHz [66.00 ± 9.37 dB HL]and 8 kHz [70.00 (65.00,80.00)dB HL] than the older group (4–6 years)at 6 kHz and 8 kHz. Ototoxicity in pediatric patients with platinum-containing chemotherapy is ubiquitous in China, which is influenced by cumulative dose of drugs, sex and age. The threshold of cumulative dose deserves attention.</div></div>","PeriodicalId":14388,"journal":{"name":"International journal of pediatric otorhinolaryngology","volume":"192 ","pages":"Article 112292"},"PeriodicalIF":1.2,"publicationDate":"2025-02-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143682541","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}

引用次数: 0