Objective To identify the pathogenic gene and variant for a family with branchio-otic syndrome.Methods The clinical data of this family were collected,and the peripheral blood was extracted for deafness gene NGS panel analysis.Pathogenic variation detected was verified by Sanger sequencing.Results The family contained 17 members in three-generations,3 of whom exhibited autosomal dominant,hearing loss,preauricular fistula and branchial cleft fistula,which were in accordance with the clinical diagnosis criteria of branchio-otic syndrome.A no-vel heterozygous variant c.963dupT(p.E322X)in EYA1 gene was identified,which co-segregated with the branchi-o-otic syndrome phenotype in the family.The variant was a nonsense variant resulting in the premature appearance of the stop codon.According to the American College of Medical Genetics and Genomics(ACMG)guidelines and the criteria,the variant was classified as pathogenic.Conclusion We identified a novel pathogenic variant EYA1:c.963dupT(p.E322X)in a family with branchio-otic syndrome.

Objective To analyze the distribution and characteristics of hearing and deafness susceptibility genes in newborns who failed the initial hearing screening,and to explore the association rules for those referred the re-screening.Methods A multicenter retrospective cohort study conducted in 12 339 infants who failed the initial hearing screening in Beijing.Data analysis was conducted on the results of genetic screening for deafness susceptibil-ity genes and the results of the hearing re-screening and diagnosis.The Apriori algorithm was utilized to mine strong association rules related to the failure of the hearing re-screening.Results The detection rate of deafness suscepti-bility gene mutations was 7.14％(881/12 339),withGJB2,SLC26A4,GJB3,and MT-RNR1 being the most fre-quently identified genes.The positive predictive values for initial hearing screening and re-screening referred were 15.93％(1 965/12 339)and 17.87％(226/1 265).Association rule mining revealed that newborns who referred the initial hearing screening in both ears and had twins/multiple births,NICU admission,and deafness gene muta-tion detection had relatively increased risks of 4.47％,9.25％,and 16.72％.Newborns with deafness gene muta-tion detection who referred the initial hearing screening in both ears and female newborns had relatively increased risks of 3.99％and 12.60％who referred the hearing re-screening.Conclusion Newborns who fail the initial hear-ing screening have a relatively high detection rate of deafness susceptibility gene mutations.Those who fail initial bi-lateral hearing screening and have detected deafness gene mutations are at a significantly increased risk of failing the hearing rescreening.

Objective To investigate the effects of glycerol ingestion on pure tone audiometry(PTA),distor-tion products otoacoustic emission(DPOAE),and electrocochleography(ECochG)in patients with Ménière disease(MD).Methods Glycerol test was conducted in 50 patients with MD.PTA was performed in four series:before glycerol intake,1,2 and 3 hours after intake.DPOAE and ECochG were performed before glycerol intake and 2 hours after intake.All results were analyzed to assess the effect of glycerol on cochlear function of patients with MD.Results ① 55％of MD patients tested positive in PTA glycerol test,and the positive rate increased gradually after 1-3 hours of glycerin ingestion(P＜0.05).For the 33 positive ears,the pure tone threshold decreased the most between 1-2 hours and reached the lowest thresholds at 3 hours.Thresholds at 0.5 kHz,1 kHz,2 kHz dropped the most.② The positive rate of DPOAE glycerol test was 56.67％,with 34 positive ears showing a sig-nificant increase in amplitude between 0.75-2 kHz of f2.③ The positive rate of ECochG glycerin test was 13.64％.The decrease of-SP/AP ratio was not statistically significant before and after ingestion of glycerin(P＞0.05).Conclusion Ingestion of glycerin could alter to varying degrees of the results of PTA,DPOAE and ECo-chG,and influence the cochlear function to some extent.

Objective To study the types of articulation errors in children with speech sound disorders(SSD)and compare the differences in articulation between two groups according to their ages of language development(≥4 years and＜4 years).Methods A comprehensive assessment was conducted on 260 children with SSD who visited the outpatient department between May 2022 and May 2023.The S-S method for delayed language development e-valuation and the Gesell developmental schedules were used.Based on their assessed language developmental age,130 children from each age group(≥4 years and＜4 years)were selected.All participants underwent speech articu-lation assessment using the Word List developed by Huang Zhaoming and Han Zhijuan.The types of consonant and vowel mispronunciations were compared between the two groups,and statistical analysis were performed using SPSS 26.0 software to determine differences in speech articulation.Results Apart from distortions,the most common type of consonant mispronunciation in both age groups was frontalization,while the most frequent type of vowel mispronunciation was final sound omission.The occurrence frequency and composition ratio of consonant and vowel mispronunciations were similar in both age groups,and there was no significant difference in speech articulation be-tween the two groups of children.Conclusion Early intervention is crucial for children with SSDs at different lan-guage developmental stages(≥4 years and＜4 years)to prevent the solidification of incorrect articulation patterns.

Objective To propose an effective objective acoustic voice assessment method for detecting vocal fold nodules in children.Methods Continuous vowel sounds/a/from 48 children with vocal fold nodules and 40 healthy chil-dren were analyzed using multi-band cepstral analysis.Thirteen Mel-frequency cepstral coefficients(MFCC),five cepstral peak values,and six cepstral distances were extracted as subband features.An independent sample t-test was conducted to compare the acoustic feature parameters between the two groups.Features with statistically significant differences were fur-ther analyzed using the receiver operating characteristic(ROC)curve to identify the optimal acoustic features with the high-est discriminative power for detecting vocal fold nodule disorders.Results The MFCC2,MFCC3,MFCC5,MFCC11,MFCC12,DQP,EP1,and EP2 feature values were significantly higher in the vocal fold nodule group compared to the nor-mal children group(P＜0.05,P＜0.001),while MFCC1,MFCC6,MFCC8,MFCC13,and EEP were significantly lower(P＜0.05).ROC curve analysis of these features showed that the combined ROC curve area under the curve(AUC)for MFCC1,MFCC2,MFCC3,MFCC5,MFCC6,MFCC8,MFCC11,MFCC12,MFCC13,DQP,EP1,EP2,and EEP was 0.98.The individual AUCs for MFCC1,MFCC2,MFCC3,MFCC5,MFCC6,MFCC8,MFCC11,MFCC12,DQP,and EP2 were all greater than 0.7,indicating a certain level of accuracy.Among these,MFCC2 and MFCC3 had AUCs of 0.85 and 0.87,respectively,indicating that these features have high diagnostic value for vocal fold nodule-related voice seg-ments in children.Conclusion The specific combination of acoustic parameters derived from multiband cepstral features of sustained vowels,including Mel-frequency cepstral coefficients(MFCC1,MFCC2,MFCC3,MFCC5,MFCC6,MFCC8,MFCC11,MFCC12,MFCC13)and cepstral peak values(DQP,EP1,EP2,EEP),can enhance the accuracy of detecting vocal fold nodule-related voice disorders in children.Particularly,MFCC2 and MFCC3 demonstrate high sensitivity and specificity,enabling more accurate identification of vocal fold nodule-related voice disorders in children.

Vertigo is a movement or positional illusion caused by obstacles in the body's spatial positioning.Most people have experienced this condition in their lifetime.The clinical manifestations of vertigo are complex and lack typicality,and the pathogenesis of vertigo has not been fully elucidated in clinical practice,making its clinical diagnosis and treatment difficult.With the development of medical technology,clinical research on vertigo is also in-creasing.Vertigo patients are often accompanied by sleep disorders,which may aggravate the disease development and affect the prognosis of patients.This review summarizes the epidemiology of vertigo,the sleep status of vertigo patients,and the relationship between vertigo and sleep based on the survey results,providing a reference basis for clinical diagnosis and treatment.

Objective To invegtigate the possible etiology,clinical characteristics,and treatment effects of post tympanoplasty full-frequency bone conduction hearing loss in the operated ear.Methods A retrospective analy-sis was conducted on the possible causes,clinical manifestations,and diagnosis and treatment of 6 cases of full-fre-quency bone conduction hearing loss in the operated ear after tympanoplasty.Results The use of diluted epineph-rine during surgery,controlled hypotension during the operation,ethylene oxide in gelatin sponges,and the exces-sive pro-inflammatory factors produced postoperatively may be associated with the occurrence of full-frequency bone conduction hearing loss in the operated ear after tympanoplasty.Among the six patients,the main initial symptom was dizziness without vertigo or nystagmus.Two cases were ineffectively treated,one case was effectively treated,and three cases were cured.Among the four cases that received timely medication,three were effectively treated.Conclusion Full-frequency bone conduction hearing loss in the operated ear after tympanoplasty is related to various factors,and the clinical manifestations of patients are atypical,often manifesting as dizziness.Timely diagnosis through pure tone audiometry and timely treatment according to the sudden deafness treatment plan often leads to fa-vorable outcomes.

Objective To develop a screening questionnaire on the pragmatic competence of children aged 5-10 years old in the context of Chinese language and culture,and to verify its reliability and validity.Methods The revelant questionnaire was developed by compiling and screening the questions on the basis of the literature research method,then 376 ordinary children aged 5-10 years in kindergartens and primary schools in Shanghai were used as subjects for the pre-experiment,and the results of the pre-experiment were analysed by the item analysis and invalid items were excluded.Finally,the questionnaire was formally evaluated by 414 ordinary children and the results of the evaluation were validated for reliability and validity.Results The initial questionnaire contained 49 items,and 43 items were retained after item analysis,covering four dimensions:pragmatic language ability(16 items),social-emotional regulation ability(17 items),general rule ability(6 items),and extra-verbal comprehension ability(4 items).The Cronbach's alpha for the overall questionnaire was 0.979,and the Cronbach's alpha for each dimension ranged from 0.874 to 0.962,the questionnaire had good reliability.The correlation coefficients between each item and total questionnaire ranged from 0.637 to 0.806,and the correlation coefficients between each dimension as well as each dimension and total questionnaire ranged from 0.669 to 0.920,which reached a moderately high degree of correlation.The validated factor analysis was with an x2/df value of 2.945 and an RMSEA value of 0.075 which had a good fit.Conclusion The questionnaire has a certain degree of reliability and validity,and a more scientific and effective screening questionnaire for children's pragmatic competence can be developed by optimising the struc-ture.

Objective To investigate the clinical efficacy of continuous irrigating mode of endoscopic ear sur-gery(CIM-EES)utilizing tragus cartilage-perichondrium without tympanomeatal flap elevation in repairing tympanic membrane perforation.Methods The date of 70 patients(70 ears)who underwent tympanic membrane repair under ear endoscopy from June 2020 to August 2023 were randomly selected and analyzed.They were divided into two groups according to the time of operation:CIM-EES group(observation group)of 44 cases(44 ears)and a conven-tional surgery group(control group)of 26 cases(26 ears).Both groups were repaired with tympanic membrane per-foration using the method of implanting tragus cartilage-perichondrium grafts under endoscope without tympa-nomeatal flap elevation.After 6 months of postoperative follow-up,two groups were compared in terms of operation time,frequency of the endoscopic lens scrubbing,postoperative healing rate,and hearing improvement outcomes.Results The average operation time of the observation group and the control group was 37.50±4.81 minutes and 50.31±8.21 minutes respectively,and the average number of scrubbing the endoscope was 6.77±1.51 and 35.54±7.13 respectively,there was statistical difference significance between the two groups(P＜0.01).All patients in the observation group were successfully repaired in the first stage,with the healing rate of 100％(44/44),and one patient in the control group had a postoperative small perforation that healed after secondary repair with the healing rate of 96.15％(25/26).There was no statistically significant difference between the two groups.The average 6 months postoperative air conduction threshold and air-bone conduction threshold of 0.5-4 kHz in the two groups improved compared to preoperative results(P＜0.01),with no statistically significant difference between the two groups(P＞0.05).Conclusion Endoscopic myringoplasty without tympanomeatal flap elevation under continuous irrigating mode has the advantages of high healing rate,short operation time,simple surgical operation,few post operation complications and good hearing improvement.

Objective To investigate the clinical efficacy of the traditional Chinese medicine(TCM)throat opening and brightening method in treating unilateral vocal cord paralysis(UVCP).Methods Sixty patients with UVCP were prospectively collected and randomly assigned to two groups:the Chinese herbal medicine group(trea-ted with Buyang Huanwu Decoction,n=30)and the throat opening and brightening method group(treated with TCM throat opening and brightening method,n=30).The clinical studies that had utilized injection laryngoplasty for the treatment of UVCP(historical control group).Evaluation indicators included the voice handicap index-10(VHI-10),GRBAS-G,objective acoustic measurements of voice(vocal intensity,F0,shimmer,jitter,HNR),and aerodynamic measurements(maximum phonation time,MPT).Results Before treatment,no significant differences were observed between the two groups in all the evaluation indicators(P＞0.05).Post-treatment,the throat open-ing and brightening method group demonstrated significant improvements in VHI-10,GRBAS-G,shimmer,jitter,HNR,and MPT compared to pre-treatment values(P＜0.01),and these improvements were superior to those in the Chinese herbal medicine group.Pre-treatment VHI-10,GRBAS-G,and shimmer scores in the throat opening and brightening method group were significantly higher than those in the historical literature group(P＜0.01).Af-ter treatment,no significant differences were noted in any assessed parameters between the two groups(P＞0.05).Conclusion The TCM throat opening and brightening method significantly enhances phonatory function and quality of life in patients with UVCP,showing comparable efficacy to injection laryngoplasty.