Adult ; Aged ; Case-Control Studies ; Female ; Humans ; Male ; Middle Aged ; Vestibular Diseases ; diagnosis ; Vestibular Function Tests ; Vestibule, Labyrinth ; pathology ; Young Adult

OBJECTIVETo investigate the incidence of hot spot mutation of PDS gene by genetic screening testing method in Chifeng City, Inner Mongolia. The feasibility and effectiveness of genetic screening method in finding enlarged vestibular aqueduct syndrome were confirmed by temporal bone CT scan.

METHODSDNA were extracted from peripheral blood of 141 students of Chifeng Deaf and Dumb school. PDS IVS7-2 A-G mutation, the most common PDS mutation in Chinese population, was analyzed by direct sequencing for PDS exon 7, exon 8 with intron 7. The individuals found with homozygous or heterozygous PDS IVS7-2 A-G mutation were given further temporal CT scan, ultrasound scan of thyroid and thyroid hormone assays. The results of PDS genetic screening and temporal bone CT scan were compared with each other.

RESULTSThe sequencing results revealed twenty cases carrying PDS IVS7-2 A-G mutation, of whom nine cases were homozygous mutation and eleven cases were heterozygous mutation. Eighteen cases underwent temporal bone CT scan except two cases that left the school due to other health problem. Sixteen cases were confirmed to be enlarged vestibular aqueduct syndrome (EVAS) by CT scan and the shape and function of thyroid were clinically normal by ultrasound scan of thyroid and thyroid hormone assays, respectively.

CONCLUSIONSThe patients suffered from EVAS can be diagnosed by the screening for the PDS hot spot mutation which has unique advantage in epidemiologic study in large scale deaf population. The preliminary data of this study suggested relatively high incidence of EVAS in Chifeng area.

Adolescent ; Child ; Child, Preschool ; China ; Female ; Genetic Testing ; Hearing Loss ; genetics ; Humans ; Membrane Transport Proteins ; genetics ; Point Mutation ; Syndrome ; Vestibular Aqueduct ; pathology ; Vestibular Diseases ; genetics ; Young Adult

OBJECTIVE: To explore. HRCT and MRI three-dimensional fast imaging employing steady state ac-quisition(3D-FIESTA) imaging features and clinical characteristics of bilateral large vestibular aqueduct syndrome(LVAS). METHOD: The imaging and clinical features of 14 cases of bilateral LVAS identified over a 5-year periodwere retrospectively analyzed. All patients underwent HRCT and MRI 3D-FIESTA scanning of head and neck;MRI three dimensional reconstructions of internal acoustical meatus were also completed at the same time. RESULT: Audiogram showed mild to moderate hearing loss and was progressive. The cut-off values for the coronal midpointand operculum planes on the HRCT scan to diagnose an EVA were 1. 5 mm and 4. 3 mm respectively; the averagevalue was 2. 4 mm. VA expansion degree were not linked to the degree of hearing loss. MRI showed VA andlymph sac abnormalities. Concomitant image finding was cochlear hypoplasia. CONCLUSION HRCT and MRI 3D-FI-ESTA are important examinations for accurate diagnosis of LVAS. HRCT can acquire the specific size of reamedVA. MRI and 3D reconstructions of internal acoustical meatus can noninasive show more intuitive display ofLVAS and other inner ear malformations than HRCT.
Ear, Inner ; Head ; Hearing Loss ; Hearing Tests ; Humans ; Imaging, Three-Dimensional ; Magnetic Resonance Imaging ; Retrospective Studies ; Temporal Bone ; Tomography, X-Ray Computed ; Vestibular Aqueduct ; pathology ; Vestibular Diseases ; diagnosis

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.
Child ; Humans ; Mutation Rate ; Membrane Transport Proteins/genetics* ; China ; Hearing Loss, Sensorineural/diagnosis* ; Mutation ; Vestibular Aqueduct ; Vestibular Diseases/pathology* ; Deafness/genetics*

To assess the clinical application of video head impulse test (vHIT) for vestibular function in vestibular neuritis (VN) and benign paroxysmal positional vertigo (BPPV) patients.Thirty-three patients with VN and 43 patients with BPPV were enrolled from Sir Run Run Shaw Hospital and Ningbo Second Hospital from March 15 to September 10, 2015; and 50 healthy controls were also enrolled in the study. vHIT was used to quantitatively test the vestibulo-ocular reflex (VOR) gains of a pair of horizontal semicircular canals. VOR gains two pairs of vertical semicircular canals, and the corresponding asymmetrical value of three VOR gains. The saccades information was also recorded.Compared with the healthy control group and BPPV patients, the affected horizontal and vertical VOR gains were declined and the corresponding asymmetries were increased in VN patients (all<0.01). BPPV group also showed higher vertical VOR gain asymmetries compared with the healthy control group (all<0.01), but no significant difference was observed in VOR gains and horizontal VOR gain asymmetry (all>0.05). The sensibility of vHIT in diagnosis of VN was 87.9%. Among 33 VN patients, 22 were diagnosed with superior vestibular nerve dysfunction, 7 were found with inferior vestibular nerve dysfunction and 3 were with both dysfunction; and 1 case was not distinguished.Video head impulse test can quantitatively evaluate the vestibular dysfunction of VN and can help early diagnosis of VN, which may be widely used in clinic.
Benign Paroxysmal Positional Vertigo ; diagnosis ; Head Impulse Test ; Humans ; Reflex, Vestibulo-Ocular ; physiology ; Saccades ; physiology ; Semicircular Canals ; innervation ; physiopathology ; Sensitivity and Specificity ; Vestibular Diseases ; classification ; diagnosis ; Vestibular Nerve ; pathology ; Vestibular Neuronitis ; classification ; diagnosis

OBJECTIVE: To investigate the pathogenesis of nasal vestibular cyst. METHOD: Forty two case of nasal vestibular cyst were retrospectively analyzed, including clinical manifestation, pathological findings, surgical therapy efficacy. RESULT: Of these 42 cases of the type of lining epithelia, pseudostratified columnar epithelium was identified in 24 cases, stratified squamous epithelium in five cases, simple cuboidal epithelium in five cases, and two kinds of above mentioned epithelia in eight cases. Goblet cells were present in 23 cases. Surgical excision was performed via the labiogingival groove approach for all patients. The duration of follow-up ranged from 6 months to 10 years. No postoperative recurrences were found. CONCLUSION The abnormal development of nasolacrimal duct systems may take an important role in the pathogenesis of nasal vestibular cyst. According to this, we considered the total excision via the sublabial approach is more reasonable surgery than endoscopic marsupialization, but it is need further observation.
Adult ; Aged ; Cysts ; etiology ; pathology ; Endoscopy ; Female ; Goblet Cells ; cytology ; Humans ; Middle Aged ; Nose Diseases ; etiology ; pathology ; Retrospective Studies ; Vestibular Diseases ; etiology ; pathology

BACKGROUND: Cervical vestibular evoked myogenic potential (cVEMP) testing is a strong tool that enables objective determination of balance functions in humans. However, it remains unknown whether cVEMP correctly expresses vestibular disorder in mice. OBJECTIVE: In this study, correlations of cVEMP with scores for balance-related behavior tests including rotarod, beam, and air-righting reflex tests were determined in ICR mice with vestibular disorder induced by 3,3'-iminodipropiontrile (IDPN) as a mouse model of vestibular disorder. METHODS: Male ICR mice at 4 weeks of age were orally administered IDPN in saline (28 mmol/kg body weight) once. Rotarod, beam crossing, and air-righting reflex tests were performed before and 3-4 days after oral exposure one time to IDPN to determine balance functions. The saccule and utricles were labeled with fluorescein phalloidin. cVEMP measurements were performed for mice in the control and IDPN groups. Finally, the correlations between the scores of behavior tests and the amplitude or latency of cVEMP were determined with Spearman's rank correlation coefficient. Two-tailed Student's t test and Welch's t test were used to determine a significant difference between the two groups. A difference with p < 0.05 was considered to indicate statistical significance. RESULTS: After oral administration of IDPN at 28 mmol/kg, scores of the rotarod, beam, and air-righting reflex tests in the IDPN group were significantly lower than those in the control group. The numbers of hair cells in the saccule, utricle, and cupula were decreased in the IDPN group. cVEMP in the IDPN group was significantly decreased in amplitude and increased in latency compared to those in the control group. cVEMP amplitude had significant correlations with the numbers of hair cells as well as scores for all of the behavior tests in mice. CONCLUSIONS This study demonstrated impaired cVEMP and correlations of cVEMP with imbalance determined by behavior tests in a mouse model of vestibular disorder.
Animals ; Behavior, Animal ; drug effects ; physiology ; Disease Models, Animal ; Hair Cells, Vestibular ; pathology ; Male ; Mice ; Mice, Inbred ICR ; Nitriles ; adverse effects ; Postural Balance ; drug effects ; physiology ; Saccule and Utricle ; pathology ; Sensation Disorders ; chemically induced ; physiopathology ; Vestibular Diseases ; chemically induced ; diagnosis ; pathology ; physiopathology ; Vestibular Evoked Myogenic Potentials ; drug effects ; physiology ; Vestibular Function Tests