Chinese journal of otorhinolaryngology head and neck surgery最新文献

{"title":"[The updates of the ACMG variant interpretation guidelines affect the pathogenicity determination of <i>OTOF</i> gene variations in patients with auditory neuropathy].","authors":"K L Wu, J Li, H Y Wang, Q J Wang","doi":"10.3760/cma.j.cn115330-20231129-00254","DOIUrl":"10.3760/cma.j.cn115330-20231129-00254","url":null,"abstract":"<p><p><b>Objective:</b> To compare the differences between the variation interpretation standards and guidelines issued by the American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) in 2015 (The 2015ACMG/AMP guideline) and the Deafness Specialist Group of the Clinical Genome Resource (ClinGen) in 2018 for hereditary hearing loss (Healing loss, HL) issued the expert specification of the variation interpretation guide (The 2018 HL-EP guideline) in evaluating the pathogenicity of <i>OTOF</i> gene variation in patients with auditory neuropathy. <b>Methods:</b> Thirty-eight auditory neuropathy patients with <i>OTOF</i> gene variant were selected as the study subjects (23 males and 15 females, aged 0.3-25.9 years). Using whole-genome sequencing, whole exome sequencing or target region sequencing (Panel) combined with Sanger sequencing, 38 cases were found to carry more than two <i>OTOF</i> mutation sites. A total of 59 candidate variants were independently interpreted based on the 2015 ACMG/AMP guideline and 2018 HL-EP guideline. Compared with the judgment results in 2015 ACMG/AMP guideline, the variants interpreted as lower pathogenic classifications in the 2018 HL-EP guideline were defined as downgraded variants, and the variants regarded as higher pathogenic classifications were defined as upgraded variants. Statistical analysis was conducted using SPSS 20.0. <b>Results:</b> The concordance rate of variant classification between the guidelines was 72.9%(43/59). The 13.6%(8/59) of variants were upgraded and 13.6% (8/59) of variants downgraded in the classifications of the 2018 HL-EP guideline. A couple of rules saw significant differences between the guidelines (PVS1, PM3, PP2, PP3 and PP5). The distribution of pathogenicity of splicing mutation was statistically different (<i>P</i>=0.013). <b>Conclusions:</b> The 2018 HL-EP guideline is inconsistent with the 2015 ACMG/AMP guideline, when judging the pathogenicity of <i>OTOF</i> gene variants in patients with auditory neuropathy. Through the deletion and refinement of evidence and the breaking of solidification thinking, the 2018 HL-EP guideline makes the pathogenicity grading more traceable and improves the credibility.</p>","PeriodicalId":23987,"journal":{"name":"Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141176472","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}

{"title":"[A case of laryngeal collision tumor].","authors":"X X Zhao, Z J Xu, Z X Chen, C S Zang, J Liu, M Han","doi":"10.3760/cma.j.cn115330-20231115-00218","DOIUrl":"10.3760/cma.j.cn115330-20231115-00218","url":null,"abstract":"","PeriodicalId":23987,"journal":{"name":"Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141176408","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}

{"title":"[Evaluation of the outcomes of cochlear implant in children with auditory neuropathy].","authors":"C C Ren, Y Lin, X Q Fan, P F Liang, X Y Zhang, Z J Gao, D J Zha","doi":"10.3760/cma.j.cn115330-20230913-00089","DOIUrl":"10.3760/cma.j.cn115330-20230913-00089","url":null,"abstract":"<p><p><b>Objective:</b> To investigate the auditory and speech abilities of children with congenital auditory neuropathy (AN) after cochlear implant (CI), and to analyze the role of genetic testing in predicting the postoperative outcomes of CI in AN patients. <b>Methods:</b> Fourteen children diagnosed with AN by audiological battery test and underwent CI surgery in Xijing Hospital of the Air Force Medical University from 2002 to 2021 were included in this study (9 males and 5 females), with an implantation age of (3.1±1.7) years (mean±standard deviation, the same as follows). The preoperative audiological results and deafness gene results were analyzed. Another 52 children with ordinary sensorineural hearing loss (SNHL) were selected as the control group (30 males and 22 females), with an implantation age of (2.2±0.9) years. The demographic factors such as age and gender were matched with those of the AN group. The modified Category Auditory Performance (CAP-Ⅱ) and Speech Intelligence Rate (SIR) were used to evaluate the development of postoperative auditory and speech abilities in two groups. The Mandarin Speech Test System was used to test the speech recognition rate of monosyllabic and disyllabic words and sentences. Matlab 2022 software was used to analyze the data. <b>Results:</b> The results of gene in 14 children with AN showed that 6 cases had <i>OTOF</i> gene mutations, 2 cases (siblings) were confirmed to have TNN gene mutations through whole exome sequencing, and the remaining 6 cases were not find any clear pathogenic gene mutations. All subjects underwent CI surgery with electrodes implanted into the cochlea smoothly, and there were no postoperative complications. After surgery, all AN children had improved auditory and speech abilities, but only 64% (9/14) of AN children with CI had auditory ability scores comparable to the control group of SNHL children (including 2 children with <i>TNN</i> gene mutations), and 36% (5/14) of AN children had lower scores than the control group of SNHL children.The average speech recognition rate of two children with TNN gene mutations was 86.5%, and of two children with OTOF gene mutations was 83.2%. <b>Conclusions:</b> AN children achieved varying degrees of auditory and speech abilities after CI, but the postoperative effects varied greatly. Some children achieved similar results as ordinary SNHL children, but there were still some children whose effects were worse than those of ordinary SNHL children. The postoperative efficacy of CI in two children with AN caused by <i>TNN</i> pathogenic genes were comparable to that of ordinary SNHL in children. Genetic testing had certain reference value for predicting the postoperative effect of CI in AN children.</p>","PeriodicalId":23987,"journal":{"name":"Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141176425","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}

{"title":"[Current status of gene therapy for auditory neuropathy].","authors":"Y L Sun, C X Jin, B Y Feng, T T Dong, H Wu, Y Tao","doi":"10.3760/cma.j.cn115330-20231029-00177","DOIUrl":"10.3760/cma.j.cn115330-20231029-00177","url":null,"abstract":"","PeriodicalId":23987,"journal":{"name":"Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141176423","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}

{"title":"[How to break through the diagnosis and treatment bottleneck of auditory neuropathy].","authors":"Q J Wang","doi":"10.3760/cma.j.cn115330-20240126-00048","DOIUrl":"https://doi.org/10.3760/cma.j.cn115330-20240126-00048","url":null,"abstract":"","PeriodicalId":23987,"journal":{"name":"Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141176427","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}

{"title":"[Correlation study between brain damage and anxiety, depression, and cognitive impairment in patients with moderate to severe obstructive sleep apnea hypopnea syndrome using diffusional kurtosis imaging].","authors":"Y Y Zhai, X X Liu, C Meng, S H Li, D H Wu","doi":"10.3760/cma.j.cn115330-20231120-00230","DOIUrl":"10.3760/cma.j.cn115330-20231120-00230","url":null,"abstract":"<p><p><b>Objective:</b> To explore the brain white matter damage in patients with moderate to severe obstructive sleep apnea hypopnea syndrome(OSAHS) using diffusional kurtosis imaging(DKI), and to analyze its relationship with anxiety, depression and cognitive impairment in patients. <b>Methods:</b> This was a retrospective case-control study. Fifty confirmed cases (47 males and 3 females) of moderate to severe OSAHS diagnosed by polysomnography(PSG) from November 2017 to December 2022 were selected as OSAHS group(age range from 22 to 65 years old, with median age of 40 years old), and 32 healthy controls(27 males and 5 females) of non-OSAHS diagnosed by PSG were selected as control group(age range from 19 to 56 years old, with median age of 34 years old). DKI scanning, Beck Anxiety Inventory(BAI), Beck Depression Inventory-Ⅱ(BDI-Ⅱ), and Montreal cognitive assessment(MoCA) scores were performed in all subjects. Differences in kurtosis fractional anisotropy(KFA) of various brain regions were compared between the two groups to identify differential brain regions. Correlations were analyzed between KFA reduction and anxiety, depression, and cognitive impairment in OSAHS patients. To study the correlation between brain injury and anxiety, depressive mood, and cognitive dysfunction, statistical methods such as non-parametric tests for two independent samples, chi-square tests, and partial correlation analysis, were used to analyze the evaluation indicators of the two groups. <b>Results:</b> The KFA values in right external capsule, left anterior corona radiata, right anterior corona radiata, left posterior corona radiata, right posterior corona radiata, left superior corona radiata, right superior corona radiata, left superior longitudinal fasciculus, right superior longitudinal fasciculus, genu of corpus callosum, splenium of corpus callosum, body of corpus callosum, posterior cingulate gyrus of moderate to severe OSAHS group were all lower than those in the control group(<i>t</i>=-2.247, -3.028, -3.955, -4.871, -2.632, -2.594, -2.121, -2.167, -3.129, -2.015, -2.317, -2.313, -2.152,<i>P</i><0.05). For the moderate to severe OSAHS group, the correlation between AHI and KFA values of right posterior corona radiata, right superior corona radiata, left anterior corona radiata, left posterior corona radiata, left superior corona radiata, left superior longitudinal fasciculus, genu of corpus callosum, body of corpus callosum, splenium of corpus callosum were all negative(<i>r</i>=-0.378, -0.307, -0.337, -0.343, -0.341, -0.613, -0.390, -0.384, -0.396, <i>P</i><0.05). The correlation between LSO₂ and KFA values of right anterior corona radiata, right posterior corona radiata, right superior corona radiata, right superior longitudinal fasciculus, left anterior corona radiata, left posterior corona radiata, left superior corona radiata, left superior longitudinal fasciculus, genu of corpus callosum, body of corpus callosum, splenium of corpus callo","PeriodicalId":23987,"journal":{"name":"Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141176421","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}

{"title":"[Recognition of unilateral auditory neuropathy in children].","authors":"Y Li, Z H Lin, X Y Wang, Y Yang, X Zhang, Y Zhou, X Jin, Z P Zheng, J F Shi, X T Wang, J Bai, L N Guo, H H Liu","doi":"10.3760/cma.j.cn115330-20231129-00248","DOIUrl":"10.3760/cma.j.cn115330-20231129-00248","url":null,"abstract":"<p><p><b>Objective:</b> This study aimed to compare the audiological characteristics between children with unilateral auditory neuropathy (UAN) and single-sided deafness (SSD) to establish a valid basis for the differential diagnosis of children with UAN. <b>Methods:</b> A retrospective analysis was conducted on audiological and imaging evaluations of children with UAN and SSD who were treated at Beijing Children's Hospital of Capital Medical University between May 2015 and June 2023. There were 17 children with UAN, comprising 10 males and 7 females, with an average age of 4.7 years. Additionally, there were 43 children with SSD, consisting of 27 males and 16 females, with an average age of 6.5 years. Audiological assessments included Auditory brainstem response (ABR), Steady-state auditory evoked potential (ASSR), Behavioural audiometry, Cochlear microphonic potential (CM), Distortino-product otoacoustic emission (DPOAE), and acoustic immittance test. The results of the audiological assessment and imaging phenotypic between the two groups of children were compared and analyzed by applying SPSS 27.0 statistical software. <b>Results:</b> (1) The UAN group (77.8%) had a significantly higher rate of ABR wave III^L than the SSD group (20.9%) (<i>P</i><0.01). The PA thresholds at 500 Hz and 1 000 Hz of children with SSD were higher than those of children with UAN, while the ASSR thresholds at 500 Hz, 1000 Hz, 2 000 Hz, and 4 000 Hz of children with SSD were significantly higher than those of children with UAN (<i>P</i><0.05). (2) The degree of hearing loss in both UAN and SSD children was predominantly complete hearing loss. The percentage of complete hearing loss was significantly higher (χ²=4.353, <i>P</i>=0.037) in the SSD group (93.0%, 40/43) than in the UAN group (63.6%, 7/11). However, the percentage of profound hearing loss was significantly higher in the UAN group (27.3%, 3/11) than in the SSD group (2.3%, 1/43) (<i>Fisher's exact test, P=</i>0.023). In terms of hearing curve configuration, the percentage of flat type was significantly higher in the SSD group (76.7%, 33/43) than in the UAN group (36.4%, 4/11). The proportion of the UAN group (27.3%, 3/11) was significantly higher than that in the SSD group (2.3%, 1/43) in ascending type (<i>P</i><0.05). There were no statistically significant differences in the hearing curves of the declining type and other types between the two groups (<i>P</i>>0.05). (3) The proportion of imaging assessment without abnormality was significantly more common in the UAN group (81.8%) than in the SSD group (37.1%) (χ²=6.695, <i>P</i>=0.015). <b>Conclusions:</b> Compared to children with SSD, the occurrence of wave III^L on the ABR test was significantly more common in children with UAN. The percentage of ascending hearing curves was significantly higher in children with UAN than in children with SSD. ASSR thresholds were significantly lower in children with UAN. The normal imaging phenotype ","PeriodicalId":23987,"journal":{"name":"Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141176431","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}

{"title":"[Advances in the correlation between metabolic abnormalities and benign paroxysmal positional vertigo].","authors":"G J Tan, A C Deng","doi":"10.3760/cma.j.cn115330-20240117-00032","DOIUrl":"10.3760/cma.j.cn115330-20240117-00032","url":null,"abstract":"","PeriodicalId":23987,"journal":{"name":"Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141176418","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}

{"title":"[The preliminary application of mNGS in the diagnosis of invasive fungal sinusitis].","authors":"C T Zhang, Y B Liang, J T Zhi, L Zhao, P Lin, W Wang, G M Zhang","doi":"10.3760/cma.j.cn115330-20231129-00253","DOIUrl":"10.3760/cma.j.cn115330-20231129-00253","url":null,"abstract":"<p><p><b>Objective:</b> By conducting a retrospective analysis of the clinical data of 14 patients diagnosed with invasive fungal rhinosinusitis (IFRS) confirmed by metagenomics next generation sequencing (mNGS) technology, we aim to explore the rapid diagnosis value of mNGS in IFRS. <b>Methods:</b> The clinical data of 14 IFRS patients admitted to TianJin First Central Hospital were retrospectively analyzed from February 2021 to October 2023. The study cohort comprised 8 males and 6 females, with ages ranging from 14 to 77 years. All patients were diagnosed as IFRS by performing mNGS sequencing technology of nasal sinus lesion biopsy specimens. Clinical data such as laboratory examination, imaging examination, histopathological examination results, treatment plan and prognosis were summarized and analyzed. <b>Results:</b> All 14 patients were diagnosed as IFRS, with mNGS detecting pathogens such as <i>Rhizopus</i> (7 cases), Aspergillus (5 cases), Trichoderma (1 case), and <i>Scedosporium apiospermum</i> (1 case). Follow-up evaluations were conducted for a period ranging from 2 months to 2 years post-treatment. At the end of follow-up, 11 out of 14 IFRS patients achieved a complete cure with no signs of recurrence, while the symptoms of the remaining 3 patients significantly improved with comprehensive treatment. <b>Conclusion:</b> mNGS emerges as a highly effective diagnostic tool for IFRS, providing valuable microbiological evidence for clinical diagnosis and demonstrating promising clinical utility.</p>","PeriodicalId":23987,"journal":{"name":"Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141176465","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}

{"title":"[Research progress on the role of memory B cells in type 2 inflammatory diseases].","authors":"H Zheng, S Xu, S M Chen","doi":"10.3760/cma.j.cn115330-20231218-00310","DOIUrl":"10.3760/cma.j.cn115330-20231218-00310","url":null,"abstract":"","PeriodicalId":23987,"journal":{"name":"Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141176437","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}