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1.
Artigo em Chinês | MEDLINE | ID: mdl-38973049

RESUMO

Large vestibular aqueduct syndrome(LVAS) is a common recessive hereditary hearing loss disease, and some patients may also experience vestibular dysfunction. With the wide application of cochlear implant(CI) and the development of vestibular medicine, the pathophysiological mechanism of LVAS and the influence mechanism of CI on vestibular function are gradually elucidated. Consequently, the evaluation and rehabilitation of vestibular dysfunction function have also become research hotspots. This article reviews studies on vestibular function and related rehabilitation in patients with large vestibular aqueduct syndrome.


Assuntos
Aqueduto Vestibular , Humanos , Aqueduto Vestibular/anormalidades , Implantes Cocleares , Doenças Vestibulares/reabilitação , Doenças Vestibulares/fisiopatologia , Implante Coclear , Perda Auditiva Neurossensorial/reabilitação , Perda Auditiva Neurossensorial/fisiopatologia , Vestíbulo do Labirinto/fisiopatologia
2.
AJNR Am J Neuroradiol ; 45(4): 511-517, 2024 04 08.
Artigo em Inglês | MEDLINE | ID: mdl-38423746

RESUMO

BACKGROUND AND PURPOSE: High-resolution CT is the mainstay for diagnosing an enlarged vestibular aqueduct (EVA), but MR imaging may be an appealing alternative, given its lack of ionizing radiation exposure. The purpose of this study was to determine how reliably MR imaging demonstrates the endolymphatic duct and endolymphatic duct enlargement in hearing-impaired children. MATERIALS AND METHODS: We performed a retrospective review of temporal bone high-resolution CT and MR imaging of hearing-impaired children evaluated between 2017 and 2020. Vestibular aqueduct diameter was measured on high-resolution CT. The vestibular aqueducts were categorized as being enlarged (EVA+) or nonenlarged (EVA-) using the Cincinnati criteria. The endolymphatic ducts were assessed on axial high-resolution CISS MR imaging. We categorized endolymphatic duct visibility into the following: type 1 (not visible), type 2 (faintly visible), and type 3 (easily visible). Mixed-effect logistic regression was used to identify associations between endolymphatic duct visibility and EVA. Interreader agreement for the endolymphatic duct among 3 independent readers was assessed using the Fleiss κ statistic. RESULTS: In 196 ears from 98 children, endolymphatic duct visibility on MR imaging was type 1 in 74.0%, type 2 in 14.8%, and type 3 in 11.2%; 20.4% of ears were EVA+ on high-resolution CT. There was a significant association between EVA+ status and endolymphatic duct visibility (P < .01). Endolymphatic duct visibility was type 1 in 87.1%, type 2 in 12.8%, and type 3 in 0% of EVA- ears and type 1 in 22.5%, type 2 in 22.5%, and type 3 in 55.0% of EVA+ ears. The predicted probability of a type 3 endolymphatic duct being EVA+ was 0.997. There was almost perfect agreement among the 3 readers for distinguishing type 3 from type 1 or 2 endolymphatic ducts. CONCLUSIONS: CISS MR imaging substantially underdiagnoses EVA; however, when a type 3 endolymphatic duct is evident, there is a >99% likelihood of an EVA.


Assuntos
Perda Auditiva Neurossensorial , Aqueduto Vestibular , Criança , Humanos , Ducto Endolinfático/diagnóstico por imagem , Aqueduto Vestibular/diagnóstico por imagem , Imageamento por Ressonância Magnética , Estudos Retrospectivos
3.
Artigo em Inglês | MEDLINE | ID: mdl-38342426

RESUMO

INTRODUCTION: The enlarged vestibular aqueduct (EVA) is the most frequent malformation of the inner ear associated with sensorineural hearing loss (5-15%). It exists when the diameter in imaging tests is greater than 1.5 mm at its midpoint. The association between hearing loss and EVA has been described in a syndromic and non-syndromic manner. It can appear as a familial or isolated form and the audiological profile is highly variable. The gene responsible for sensorineural hearing loss associated with EVA is located in the same region described for Pendred syndrome, where the SCL26A4 gene is located. OBJECTIVE: To describe a series of children diagnosed with EVA in order to study their clinical and audiological characteristics, as well as the associated genetic and vestibular alterations. METHOD: Retrospective study of data collection of children diagnosed with EVA, from April 2014 to February 2023. RESULTS: Of the 17 cases, 12 were male and 5 were female. 5 of them were unilateral and 12 bilateral. In 5 cases, a cranial traumatism triggered the hearing loss. Genetic alterations were detected in 3 cases: 2 mutations in the SCL26A4 gene and 1 mutation in the MCT1 gene. 13 patients (76.5%) were rehabilitated with hearing aids and 9 of them required cochlear implantation. DISCUSSION: The clinical importance of AVD lies in the fact that it is a frequent finding in the context of postneonatal hearing loss. It is convenient to have a high suspicion to diagnose it with imaging tests, to monitor its evolution, and to rehabilitate early.


Assuntos
Perda Auditiva Neurossensorial , Aqueduto Vestibular , Humanos , Aqueduto Vestibular/anormalidades , Aqueduto Vestibular/diagnóstico por imagem , Masculino , Feminino , Estudos Retrospectivos , Perda Auditiva Neurossensorial/genética , Perda Auditiva Neurossensorial/etiologia , Lactente , Pré-Escolar , Criança , Transportadores de Sulfato/genética , Surdez/genética , Surdez/etiologia , Adolescente , Mutação
4.
Mol Genet Genomic Med ; 12(2): e2361, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38348997

RESUMO

OBJECTIVE: We aimed to evaluate the genotype-phenotype relationship in two Chinese family members with enlarged vestibular aqueduct (EVA). METHODS: We collected blood samples and clinical data from each pedigree family member. Genomic DNA was isolated from peripheral leukocytes using standard methods. Targeted next-generation sequencing and Sanger sequencing were performed to find the pathogenic mutation in this family. Minigene assays were used to verify whether the novel intronic mutation SLC26A4c.765+4A>G influenced mRNA splicing. RESULTS: Hearing loss in the patients with EVA was diagnosed using auditory tests and imaging examinations. Two pathogenic mutations, c.765+4A>G and c.919-2A>G were detected in SLC26A4. In vitro minigene analysis confirmed that c.765+4A>G variant could cause aberrant splicing, resulting in skipping over exon 6. CONCLUSIONS: The SLC26A4c.765+4A>G mutation is the causative variant in the Chinese family with EVA. Particular attention should be paid to intronic variants.


Assuntos
Perda Auditiva Neurossensorial , Proteínas de Membrana Transportadoras , Irmãos , Aqueduto Vestibular/anormalidades , Humanos , Proteínas de Membrana Transportadoras/genética , Mutação , China
5.
Ann Anat ; 253: 152236, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38417484

RESUMO

BACKGROUND AND AIM: The cochlear aqueduct (CA) connects between the perilymphatic space of the cochlea and the subarachnoid space in the posterior cranial fossa. The study aimed to examine 1) whether cavitation of the CA occurs on the subarachnoid side or the cochlear side and 2) the growth and/or degeneration of the CA and its concomitant vein. METHODS: We examined paraffin-embedded histological sections from human fetuses: 15 midterm fetuses (crown-rump length or CRL, 39-115 mm) and 12 near-term fetuses (CRL, 225-328 mm). RESULTS: A linear mesenchymal condensation, i.e., a likely candidate of the CA anlage, was observed without the accompanying vein at 9-10 weeks. The vein appeared until 15 weeks, but it was sometimes distant from the CA. At 10-12 weeks, the subarachnoid space (or the epidural space) near the glossopharyngeal nerve rapidly protruded into the CA anlage and reached the scala tympani, in which cavitation was gradually on-going but without epithelial lining. However, CA cavitation did not to occur in the anlage. At the opening to the scala, the epithelial-like lining of the CA lost its meningeal structure. At near-term, the CA was often narrowed and obliterated. CONCLUSION: The CA develops from meningeal tissues when the cavitation of the scala begins. The latter cavitation seemed to reduce tissue stiffness leading, to meningeal protrusion. The so-called anlage of CA might be a phylogenetic remnant of the glossopharyngeal nerve branch. A course of cochlear veins appears to be determined by a rule different from the CA development.


Assuntos
Aqueduto da Cóclea , Orelha Interna , Humanos , Aqueduto da Cóclea/fisiologia , Filogenia , Cóclea/irrigação sanguínea , Rampa do Tímpano
6.
Acta Otolaryngol ; 144(1): 39-43, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-38289678

RESUMO

BACKGROUND: Over half of patients with enlarged vestibular aqueducts (EVA) will have an air-bonr gap (ABG), however, current research on audiology has focused on the influencing factors of air-conducted. OBJECTIVE: To retrospectively analyse the influencing factors and clinical manifestations of the bone-conduction threshold and ABG in patients with EVA. MATERIALS AND METHODS: We included 286 patients with EVA; among them, 126 had full SLC26A4 gene sequence results. We performed a descriptive analysis of the bone-conduction threshold and explored the effect of age. Finally, we analyzed the relationship of ABG and SLC26A4 genes with the degree of vestibular aqueduct (VA) enlargement. RESULTS: Among 555 ears, 312 (57.8%) ears had ABG; approximately 94% of the patients' bone-conduction hearing is almost completely lost at frequencies of 2 and 4 kHz. There was no linear correlation between age and bone-conduction threshold (p > 0.05). ABG did not significantly differ according to the degree of VA enlargement and number of SLC26A4 allele mutations (p > 0.05). CONCLUSIONS AND SIGNIFICANCE: Among patients with EVA, ABG is mainly produced at low frequencies and is not significantly correlated with age, size of the VA opening or SLC26A4 genes, which could be attributed to the biomechanical effects.


Assuntos
Perda Auditiva Neurossensorial , Aqueduto Vestibular/anormalidades , Humanos , Estudos Retrospectivos , Proteínas de Membrana Transportadoras/genética , Perda Auditiva Neurossensorial/genética , Mutação
7.
Eur Arch Otorhinolaryngol ; 281(2): 649-654, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-37477685

RESUMO

BACKGROUND: The relationship between the hearing phenotype and the SLC26A4 mutation in enlarged vestibular aqueduct cases has not been fully elucidated. OBJECTIVES: To detect SLC26A4 mutation in a group of cases with enlarged vestibular aqueduct who received cochlear implantation and to analyze the correlation between the SLC26A4 genotype and the progression of deafness. MATERIALS AND METHODS: Twenty-nine enlarged vestibular aqueduct patients were selected. Using the Sanger sequence to analyze SLC26A4 gene mutations. The 29 cases were divided into group A (carrying the c.919-2A > G mutation) and group B (not carrying the c.919-2A > G mutation). The difference in the duration of deafness was analyzed between the two groups. RESULTS: The detection rate of the c.1174A > T mutation in the postlingual deafness group was 37.5%, higher than that in the prelingual deafness group (0%). The difference in the duration of deafness between groups A and B was not statistically significant by the Mann-Whitney U test (p > 0.05). CONCLUSIONS: The correlation between the SLC26A4 genotype and the duration of deafness in cases with enlarged vestibular aqueduct is not yet clear. However, the c.1174A > T mutation may be linked to delayed hearing loss and the progression of deafness may be relatively slow in some cases of c.919-2A > G mutation.


Assuntos
Surdez , Perda Auditiva Neurossensorial , Aqueduto Vestibular , Humanos , Proteínas de Membrana Transportadoras/genética , Perda Auditiva Neurossensorial/genética , Surdez/genética , Mutação , Aqueduto Vestibular/diagnóstico por imagem , Transportadores de Sulfato/genética
8.
Am J Otolaryngol ; 45(2): 104192, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38104470

RESUMO

PURPOSE: Radiographic review of pathologies that associate with third window syndrome. METHODS: Case series and literature review. RESULTS: Eight unique third window conditions are described and illustrated, including superior, lateral, and posterior semicircular canal dehiscence; carotid-cochlear, facial-cochlear, and internal auditory canal-cochlear dehiscence, labyrinthine erosion from endolymphatic sac tumor, and enlarged vestibular aqueduct. CONCLUSION: The present study highlights the characteristic imaging features and symptoms to differentiate third window pathologies for expedient diagnosis and management planning.


Assuntos
Perda Auditiva Neurossensorial , Doenças do Labirinto , Deiscência do Canal Semicircular , Aqueduto Vestibular , Humanos , Doenças do Labirinto/diagnóstico por imagem , Doenças do Labirinto/patologia , Perda Auditiva Neurossensorial/patologia , Aqueduto Vestibular/patologia , Cóclea/diagnóstico por imagem , Cóclea/patologia , Canais Semicirculares/diagnóstico por imagem , Canais Semicirculares/patologia
9.
J Int Adv Otol ; 19(6): 454-460, 2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-38088316

RESUMO

ACKGROUND: There is a need to operationalize existing clinical data to support precision medicine in progressive hearing loss (HL). By utilizing enlarged vestibular aqueduct (EVA) and its associated inner ear abnormalities as an exemplar, we model data from a large international cohort, confirm prognostic factors for HL, and explore the potential to generate a prediction model to optimize current management paradigms. METHODS: An international retrospective cohort study. Regression analyses were utilized to model frequency-specific HL and identify prognostic factors for baseline average HL severity and progression. Elastic-net regression and machine learning (ML) techniques were utilized to predict future average HL progression based upon routinely measurable clinical, genetic, and radiological data. RESULTS: Higher frequencies of hearing were lost more severely. Prognostic factors for HL were the presence of incomplete partition type 2 (coefficient 12.95 dB, P=.011, 95% CI 3.0-22 dB) and presence of sac signal heterogeneity (P=.009, 95% CI 0.062-0.429) on magnetic resonance imaging. Elastic-net regression outperformed the ML algorithms (R2 0.32, mean absolute error 11.05 dB) with coefficients for baseline average hearing level and the presence of sac heterogeneity contributing the most to prediction outcomes. CONCLUSION: Incomplete partition type 2 and endolymphatic sac signal heterogeneity phenotypes should be monitored closely for hearing deterioration and need for early audiological rehabilitation/cochlear implant. Preliminary prediction models have been generated using routinely collected health data in EVA. This study showcases how international collaborative research can use exemplar techniques to improve precision medicine in relatively rare disease entities.


Assuntos
Surdez , Perda Auditiva Neurossensorial , Perda Auditiva , Aqueduto Vestibular , Humanos , Estudos Retrospectivos , Prognóstico , Perda Auditiva/patologia , Perda Auditiva Neurossensorial/diagnóstico , Perda Auditiva Neurossensorial/patologia , Aqueduto Vestibular/diagnóstico por imagem , Aqueduto Vestibular/patologia
10.
Acta Otolaryngol ; 143(11-12): 931-935, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-38127466

RESUMO

Background: The cochlear aqueduct (CA), which connects the scala tympani and the subarachnoid space, and its accompanying structures appear to have a significant relevance during cochlear implantation and an accurate visualization in clinical imaging is of great interest. Aims and Objective: This study aims to determine which potential and limitations clinically available imaging modalities have in the visualization of the CA. Methods: Micro-CT, flat-panel volume computed tomography with and without secondary reconstruction (fpVCT, fpVCTseco) and multislice computed tomography (MSCT) of 10 temporal bone specimen were used for 3D analysis of the CA. Results: FpVCTseco proved superior in visualizing the associated structures and lateral portions of the CA, which merge into the basal turn of the cochlea. All clinical imaging modalities proved equal in analyzing the length, total volume of the CA and its area of the medial orifice. Conclusion: The choice of the most accurate clinical imaging modality to evaluate the CA and its associated structures depends on the clinical or scientific question. Furthermore, this study should provide a basis for further investigations analyzing the CA.


Assuntos
Implante Coclear , Implantes Cocleares , Aqueduto da Cóclea/diagnóstico por imagem , Aqueduto da Cóclea/cirurgia , Cóclea/diagnóstico por imagem , Cóclea/cirurgia , Implante Coclear/métodos , Osso Temporal/cirurgia , Microtomografia por Raio-X
11.
Artigo em Chinês | MEDLINE | ID: mdl-37905486

RESUMO

Objective:To study the frequency of SLC26A4 gene mutation sites in children with enlarged vestibular aqueduct deafness in Yunnan, report the new mutation sites of SLC26A4 gene, further clarify the mutation spectrum of SLC26A4gene, and explore the association between biallelic and monoallelic mutations of SLC26A4 gene and CT phenotype of inner ear, so as to provide basis for clinical and genetic diagnosis of deafness. Methods:Review the results of temporal bone CT examination of 390 children after cochlear implantation in the Department of Otolaryngology, Kunming Children's Hospital from August 2016 to September 2021. Sanger sequencing of SLC26A4 gene was performed in 59 children with enlarged vestibular aqueduct. According to the genetic test results, the children who underwent temporal bone CT examination were divided into two groups: SLC26A4 biallelic mutation group(homozygous mutation and compound heterozygous mutation), monoallelic mutation group, and the association with inner ear CT phenotype was analyzed, and the new sites were summarized and analyzed. Results:The c.919-2a>g mutation was the most common mutation in children with enlarged vestibular aqueduct with SLC26A4 gene mutation. Three new variants of SLC26A4 gene were found; CT examination combined with genetic testing found that a part of children with enlarged vestibular aqueduct was associated with SLC26A4 monoallelic mutation or no SLC26A4 gene mutation was detected. Further research is needed to investigate the involvement of other pathogenic factors in the pathogenesis of EVA.


Assuntos
Surdez , Perda Auditiva Neurossensorial , Aqueduto Vestibular , Doenças Vestibulares , Criança , Humanos , Taxa de Mutação , Proteínas de Membrana Transportadoras/genética , China , Perda Auditiva Neurossensorial/diagnóstico , Mutação , Doenças Vestibulares/patologia , Surdez/genética
12.
Hum Genet ; 142(10): 1499-1517, 2023 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-37668839

RESUMO

Enlargement of the endolymphatic sac, duct, and vestibular aqueduct (EVA) is the most common inner ear malformation identified in patients with sensorineural hearing loss. EVA is associated with pathogenic variants in SLC26A4. However, in European-Caucasian populations, about 50% of patients with EVA carry no pathogenic alleles of SLC26A4. We tested for the presence of variants in CHD7, a gene known to be associated with CHARGE syndrome, Kallmann syndrome, and hypogonadotropic hypogonadism, in a cohort of 34 families with EVA subjects without pathogenic alleles of SLC26A4. In two families, NM_017780.4: c.3553A > G [p.(Met1185Val)] and c.5390G > C [p.(Gly1797Ala)] were detected as monoallelic CHD7 variants in patients with EVA. At least one subject from each family had additional signs or potential signs of CHARGE syndrome but did not meet diagnostic criteria for CHARGE. In silico modeling of these two missense substitutions predicted detrimental effects upon CHD7 protein structure. Consistent with a role of CHD7 in this tissue, Chd7 transcript and protein were detected in all epithelial cells of the endolymphatic duct and sac of the developing mouse inner ear. These results suggest that some CHD7 variants can cause nonsyndromic hearing loss and EVA. CHD7 should be included in DNA sequence analyses to detect pathogenic variants in EVA patients. Chd7 expression and mutant phenotype data in mice suggest that CHD7 contributes to the formation or function of the endolymphatic sac and duct.


Assuntos
Surdez , Perda Auditiva Neurossensorial , Perda Auditiva , Aqueduto Vestibular , Animais , Camundongos , Alelos , DNA Helicases/genética , Perda Auditiva/genética , Perda Auditiva Neurossensorial/genética
13.
Otol Neurotol ; 44(5): e273-e280, 2023 06 01.
Artigo em Inglês | MEDLINE | ID: mdl-37167444

RESUMO

OBJECTIVE: To determine the relationship between hearing loss etiology, cochlear implant (CI) programming levels, and speech perception performance in a large clinical cohort of pediatric CI recipients. STUDY DESIGN: Retrospective chart review. SETTING: Tertiary care hospitals. PATIENTS: A total of 136 pediatric CI recipients (218 ears) were included in this study. All patients had diagnoses of either enlarged vestibular aqueduct (EVA) or GJB2 (Connexin-26) mutation confirmed via radiographic data and/or genetic reports. All patients received audiologic care at either Boston Children's Hospital or Massachusetts Eye and Ear in Boston, MA, between the years 1999 and 2020. MAIN OUTCOME MEASURES: Electrode impedances and programming levels for each active electrode and speech perception scores were evaluated as a function of etiology (EVA or GJB2 mutation). RESULTS: Children with EVA had significantly higher impedances and programming levels (thresholds and upper stimulation levels) than the children with GJB2 mutation. Speech perception scores did not differ as a function of etiology in this sample; rather, they were positively correlated with duration of CI experience (time since implantation). CONCLUSIONS: Differences in electrode impedances and CI programming levels suggest that the electrode-neuron interface varies systematically as a function of hearing loss etiology in pediatric CI recipients with EVA and those with GJB2 mutation. Time with the CI was a better predictor of speech perception scores than etiology, suggesting that children can adapt to CI stimulation with experience.


Assuntos
Implante Coclear , Implantes Cocleares , Surdez , Perda Auditiva Neurossensorial , Percepção da Fala , Aqueduto Vestibular , Criança , Humanos , Conexinas/genética , Surdez/genética , Surdez/cirurgia , Perda Auditiva Neurossensorial/cirurgia , Mutação , Estudos Retrospectivos , Aqueduto Vestibular/cirurgia
14.
Int J Pediatr Otorhinolaryngol ; 169: 111574, 2023 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-37099948

RESUMO

OBJECTIVE: To investigate the occurrence and characteristics of balance and vestibular deficits in pediatric patients with enlarged vestibular aqueduct (EVA). MATERIALS AND METHODS: Retrospective review of 53 children with EVA who underwent a comprehensive vestibular evaluation in our pediatric balance and vestibular program. Laboratory testing included videonystagmography (VNG), rotary chair, video head impulse testing (vHIT), vestibular evoked myogenic potential (VEMP), subjective visual vertical (SVV) and Sensory Organization Test (SOT) in posturography. RESULTS: The mean age of these children, 31 girls and 22 boys, was 7.1 years (SD = 4.8). Among these 53 children, 16 had unilateral EVA (7 on the left side and 9 on the right side) and 37 had bilateral EVA, in which genetic testing confirmed 5 cases of Pendred syndrome. Abnormal testing results were found in 58% (11/19) on SOT, 67% (32/48) on rotary chair, 55% (48/88 of ears) on VEMP, 30% (8/27) on vHIT, 39% (7/18) on SVV, and 8% (4/53) on VNG. CONCLUSIONS: Vestibular dysfunction may be a common finding in children with EVA. Clinicians who provide medical care for children with EVA need to be familiar with signs of potential balance and vestibular impairments. Although performing vestibular evaluation on young children with EVA can be difficult, objective testing is important in order to identify any potential vestibular deficit in these pediatric patients so that proper vestibular rehabilitation and balance retraining can be provided.


Assuntos
Perda Auditiva Neurossensorial , Aqueduto Vestibular , Vestíbulo do Labirinto , Masculino , Feminino , Criança , Humanos , Pré-Escolar , Perda Auditiva Neurossensorial/diagnóstico , Estudos Retrospectivos
15.
Genes (Basel) ; 14(2)2023 01 28.
Artigo em Inglês | MEDLINE | ID: mdl-36833263

RESUMO

The most frequently observed congenital inner ear malformation is enlarged vestibular aqueduct (EVA). It is often accompanied with incomplete partition type 2 (IP2) of the cochlea and a dilated vestibule, which together constitute Mondini malformation. Pathogenic SLC26A4 variants are considered the major cause of inner ear malformation but the genetics still needs clarification. The aim of this study was to identify the cause of EVA in patients with hearing loss (HL). Genomic DNA was isolated from HL patients with radiologically confirmed bilateral EVA (n = 23) and analyzed by next generation sequencing using a custom HL gene panel encompassing 237 HL-related genes or a clinical exome. The presence and segregation of selected variants and the CEVA haplotype (in the 5' region of SLC26A4) was verified by Sanger sequencing. Minigene assay was used to evaluate the impact of novel synonymous variant on splicing. Genetic testing identified the cause of EVA in 17/23 individuals (74%). Two pathogenic variants in the SLC26A4 gene were identified as the cause of EVA in 8 of them (35%), and a CEVA haplotype was regarded as the cause of EVA in 6 of 7 patients (86%) who carried only one SLC26A4 genetic variant. In two individuals with a phenotype matching branchio-oto-renal (BOR) spectrum disorder, cochlear hypoplasia resulted from EYA1 pathogenic variants. In one patient, a novel variant in CHD7 was detected. Our study shows that SLC26A4, together with the CEVA haplotype, accounts for more than half of EVA cases. Syndromic forms of HL should also be considered in patients with EVA. We conclude that to better understand inner ear development and the pathogenesis of its malformations, there is a need to look for pathogenic variants in noncoding regions of known HL genes or to link them with novel candidate HL genes.


Assuntos
Surdez , Perda Auditiva Neurossensorial , Perda Auditiva , Aqueduto Vestibular , Humanos , Perda Auditiva Neurossensorial/genética , Aqueduto Vestibular/anormalidades , Aqueduto Vestibular/patologia , Perda Auditiva/genética , Surdez/patologia , Patrimônio Genético
16.
Auris Nasus Larynx ; 50(5): 733-742, 2023 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-36797195

RESUMO

OBJECTIVE: Large vestibular aqueduct syndrome (LVAS) is one of the etiology of hearing loss. Clinically, we observed that the VA size of patients with idiopathic sudden sensorineural hearing loss (ISSNHL) did not meet the diagnostic criteria of VA enlargement, but there were individual variations. Through this study, we want to understand the VA development and explore its risk for suffering from ISSNHL. METHODS: 74 patients with ISSNHL were retrospectively reviewed in our department from June 2018 to September 2021. Meanwhile, 57 people with no ear diseases were randomly selected as the control group. All their clinical information were systematically collected. The axial thin-slice CT images of temporal bone were used to observe and measure the VA in ISSNHL and controls. ISSNHL were classified as different types and grades according to pure tone audiometry and the degree of hearing loss, respectively. Logistic regression analysis was adopted to evaluate the risk factors of different types and grades of ISSNHL. RESULTS: The operculum morphology could be funnel-shaped, tubular and invisible, but they had no statistical difference in the morbidity of ISSNHL. The operculum width of the affected sides in the case group was significantly wider than that of the matched sides in the control group (0.84±0.35mm vs 0.68±0.34mm, p=0.009), but the midpoint width had no statistical difference (p=0.447). The operculum width was an independent risk factor for the total hearing loss type (p=0.036, OR=4.49, 95% CI=1.10-18.29), moderate (p=0.013, OR=17.62, 95% CI=1.82-170.95) and profound (p=0.031, OR=4.50, 95% CI=1.14-17.67) grade of ISSNHL. Hypertension was an independent risk factor for the severe grade (p=0.004, OR=12.44, 95% CI=2.19-70.64) of ISSNHL. Both the operculum width (p=0.048, OR=7.14, 95% CI=1.02-50.26) and hypertension (p=0.014, OR=6.73, 95% CI=1.46-30.97) were the risk factors for the flat type of ISSNHL. The midpoint width of the VA, gender, age, diabetes mellitus, hyperlipidemia, and plasma fibrinogen concentration had no significant effect on the risk for suffering from ISSNHL. CONCLUSION: The development of the VA operculum is a risk factor for some types and grades of ISSNHL. Hypertension remained a risk factor for ISSNHL.


Assuntos
Surdez , Perda Auditiva Neurossensorial , Perda Auditiva Súbita , Aqueduto Vestibular , Doenças Vestibulares , Humanos , Estudos Retrospectivos , Perda Auditiva Neurossensorial/diagnóstico por imagem , Perda Auditiva Neurossensorial/epidemiologia , Perda Auditiva Súbita/diagnóstico por imagem , Perda Auditiva Súbita/epidemiologia , Doenças Vestibulares/complicações , Aqueduto Vestibular/diagnóstico por imagem
17.
Laryngoscope ; 133(10): 2786-2791, 2023 10.
Artigo em Inglês | MEDLINE | ID: mdl-36762450

RESUMO

OBJECTIVES: Enlarged vestibular aqueduct (EVA) is the most common anatomic abnormality contributing to permanent hearing loss (HL) in children. Although the association between EVA and HL is well-documented, the pass rate for the newborn hearing screening (NBHS) for patients with EVA-related HL is not. Our objective was to investigate the association between NBHS results and audiologic and clinical outcomes in a large cohort of pediatric patients with EVA. METHODS: This was a retrospective chart review of patients seen in the Boston Children's Hospital (BCH) Department of Otolaryngology and Communication Enhancement with confirmed HL, known NBHS results, and confirmed EVA. Demographic, clinical, audiologic, and imaging data were collected from the medical record. Frequency-specific data points from pure-tone audiograms and/or automated auditory brainstem response tests were recorded, and four-frequency pure tone average was calculated using air conduction thresholds at 500, 1000, 2000, and 4000 Hz. RESULTS: Of the 183 patients included in the study, 84 (45.9%) passed their NBHS, whereas 99 (54.1%) did not pass. Compared with patients who did not pass, patients who passed were more likely to have unilateral EVA and unilateral HL, whereas they were less likely to undergo cochlear implantation and to have causative SLC26A4 variants. CONCLUSIONS: EVA-associated HL may be identified at birth or during childhood, with nearly half the patients in this cohort passing their NBHS. Our results provide prognostic information for patients with EVA who pass their NBHS and highlight the importance of regular hearing monitoring for children not initially suspected of having HL. LEVEL OF EVIDENCE: 4 Laryngoscope, 133:2786-2791, 2023.


Assuntos
Perda Auditiva Neurossensorial , Aqueduto Vestibular , Recém-Nascido , Criança , Humanos , Estudos Retrospectivos , Perda Auditiva Neurossensorial/etiologia , Perda Auditiva Neurossensorial/complicações , Audição , Aqueduto Vestibular/diagnóstico por imagem , Audiometria de Tons Puros
18.
Artigo em Chinês | MEDLINE | ID: mdl-36748152

RESUMO

Objective: To clarify the phenotypes of the newborns with SLC26A4 single-allele mutation in deafness genetic screening and second variant; to analyze the SLC26A4 genotype and hearing phenotype. Methods: 850 newborns born in Beijing from April 2015 to December 2019 were included and there were 468 males and 382 females. They received genetic deafness screening for 9 or 15 variants, with the result of SLC26A4 single-allele mutation. Firstly, three step deafness gene sequencing was adopted in this work, i.e., the first step was "SLC26A4 gene whole exons and splice sites" sequencing; the second step was "SLC26A4 gene promoter, FOXI1 gene and KCNJ10 gene whole exons" sequencing; and the third step was detection for "SLC26A4 gene copy number variation". Secondly, we collected the results of newborn hearing screening for all patients with the second mutation found in the three step test, and conducted audiological examinations, such as acoustic immittance, auditory brainstem response and auditory steady state response. Thirdly, for novel/VUS mutations, we searched the international deafness gene database or software, such as DVD, ClinVar and Mutation Taster, to predict the pathogenicity of mutations according to the ACMG guideline. Lastly, we analyzed the relationship between genotype and phenotype of newborns with SLC26A4 single allele mutation. Results: Among 850 cases, the median age of diagnosis was 4 months. In the first step, 850 cases were sequenced. A total of 32 cases (3.76%, 32/850) of a second variants were detected, including 18 cases (2.12%, 18/850) with identified pathogenic variants; 832 cases were sequenced and 8 cases of KCNJ10 gene missense variants were detected among the second step. No missense mutations in the FOXI1 gene and abnormal SLC26A4 gene promoter were detected; the third step sequencing results were all negative. Genotypes and hearing phenotypes included 18 cases combined with the second clear pathogenic variant, 16 cases (16/18) referred newborn hearing screening and 2 cases (2/18) passed in both ears; degree of hearing loss consisted of 18 profound ears (18/36), 13 severe ears (13/36) and 5 moderate ears (5/36); audiogram patterns comprised 17 high frequency drop ears (17/36), 14 flat ears (14/36), 3 undistinguished ears (3/36), and 2 U shaped ears (2/36); 11 cases underwent imaging examination, all of which were bilateral enlarged vestibular aqueduct. As for 22 cases of other genotypes, all passed neonatal hearing screening and the hearing diagnosis was normal, including 9 cases with VUS or possibly novel benign variants, 8 cases with KCNJ10 double gene heterozygous variants, and 5 cases with double heterozygous variants. Conclusions: The probability of individuals with SLC26A4 single-allele variant who merge with a second pathogenic variant is 2.12%, all of which are SNV, which can provide scientific basis for the genetic diagnosis and genetic counseling of SLC26A4 variants. Those who have merged with second pathogenic variant are all diagnosed with sensorineural hearing loss. Patients with KCNJ10 gene mutations do not manifest hearing loss during the infancy, suggesting the need for further follow-up.


Assuntos
Surdez , Fatores de Transcrição Forkhead , Perda Auditiva Neurossensorial , Perda Auditiva , Canais de Potássio Corretores do Fluxo de Internalização , Transportadores de Sulfato , Feminino , Humanos , Masculino , Alelos , Surdez/genética , Variações do Número de Cópias de DNA , Fatores de Transcrição Forkhead/genética , Genótipo , Perda Auditiva/genética , Perda Auditiva Neurossensorial/genética , Mutação , Fenótipo , Transportadores de Sulfato/genética , Aqueduto Vestibular , Recém-Nascido , Canais de Potássio Corretores do Fluxo de Internalização/genética
19.
Sci Rep ; 13(1): 66, 2023 01 05.
Artigo em Inglês | MEDLINE | ID: mdl-36604454

RESUMO

The mathematical equations to estimate cochlear duct length (CDL) using cochlear parameters such as basal turn diameter (A-value) and width (B-value) are currently applied for cochleae with two and a half turns of normal development. Most of the inner ear malformation (IEM) types have either less than two and a half cochlear turns or have a cystic apex, making the current available CDL equations unsuitable for cochleae with abnormal anatomies. Therefore, this study aimed to estimate the basal turn length (BTL) from the cochlear parameters of different anatomical types, including normal anatomy; enlarged vestibular aqueduct; incomplete partition types I, II, and III; and cochlear hypoplasia. The lateral wall was manually tracked for 360° of the angular depth, along with the A and B values in the oblique coronal view for all anatomical types. A strong positive linear correlation was observed between BTL and the A- (r2 = 0.74) and B-values (r2 = 0.84). The multiple linear regression model to predict the BTL from the A-and B-values resulted in the following equation (estimated BTL = [A × 1.04] + [B × 1.89] - 0.92). The manually measured and estimated BTL differed by 1.12%. The proposed equation could be beneficial in adequately selecting an electrode that covers the basal turn in deformed cochleae.


Assuntos
Implante Coclear , Implantes Cocleares , Perda Auditiva Neurossensorial , Aqueduto Vestibular , Humanos , Tomografia Computadorizada por Raios X , Cóclea/cirurgia , Ducto Coclear , Implante Coclear/métodos
20.
Terminologia | DeCS - Descritores em Ciências da Saúde | ID: 027960

RESUMO

A fine channel that passes through the TEMPORAL BONE near the SCALA TYMPANI (the basilar turn of the cochlea). The cochlear aqueduct connects the PERILYMPH-filled bony labyrinth to the SUBARACHNOID SPACE.


Fino canal que atraviesa el HUESO TEMPORAL cerca de la escala o RAMPA TIMPÁNICA (el bucle basilar de la cóclea). El acueducto coclear conecta el laberinto óseo relleno de PERILINFA con el ESPACIO SUBARACNOIDEO.


Canal estreito que passa através do OSSO TEMPORAL, próximo à RAMPA DO TÍMPANO (a volta basilar da cóclea). O aqueduto da cóclea liga o labirinto ósseo (preenchido por PERILINFA) ao ESPAÇO SUBARACNOIDE.

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