scholarly journals Prevalence of Mutations in the GJB2, SLC26A4, GJB3, and MT-RNR1 Genes in 103 Children with Sensorineural Hearing Loss in Shaoxing, China

2018 ◽  
Vol 97 (6) ◽  
pp. E33-E38 ◽  
Author(s):  
Hong Yu ◽  
Dan Liu ◽  
Jingqun Yang ◽  
Zhiqiang Wu
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Genetic Screening ◽  
Mutant Allele ◽  
Hot Spot ◽  
Pathogenic Mutation ◽  
Sensorineural Hearing ◽  
Common Cause ◽  
Vestibular Aqueduct ◽  
Multiple Pcr

Mutations in the GJB2, SLC26A4, GJB3, and MT-RNR1 genes are known to be a common cause of hearing loss. However, the frequency of hot-spot mutations and genotype-phenotype correlations in patients with sensorineural hearing loss (SNHL) has been less frequently reported. We conducted a study of 103 children—56 boys and 47 girls, aged 5 months to 9 years (mean: 4.1 yr)—with SNHL who underwent genetic screening for 20 hot-spot mutations of the GJB2, SLC26A4, GJB3, and MT-RNR1 genes. Mutations were detected by multiple-PCR-based MALDI-TOF MS assay. At least one mutated allele was detected in 48 patients (46.6%), and 30 patients (29.1%) carried pathogenic mutations. Among all the detected mutations, the most common were GJB2 c.235delC and SLC26A4 c.919-2A>G, with allele frequencies of 23.8 and 6.8%, respectively. At least one mutant allele of SLC26A4 was detected in the 13 patients who had an enlarged vestibular aqueduct (EVA). Almost half of the children with SNHL carried a common deafness-related mutation, and nearly one-third carried a pathogenic mutation. The mutations in SLC26A4 were prevalent and correlated strongly with EVA.

Progressive Sensorineural Hearing Loss and a Widened Vestibular Aqueduct in Pendred Syndrome

1998 ◽  
Vol 124 (5) ◽  
pp. 501 ◽  
Author(s):  
Cor W. R. J. Cremers ◽  
Cuny Bolder ◽  
Ronald J. C. Admiraal ◽  
Lorraine A. Everett ◽  
Frank B. M. Joosten ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Sensorineural Hearing ◽  
Pendred Syndrome ◽  
Vestibular Aqueduct

scholarly journals Fluctuating Sensorineural Hearing Loss

2019 ◽  
Vol 24 (3) ◽  
pp. 109-116 ◽  
Author(s):  
Hui Liu ◽  
Kunpeng Zhou ◽  
Xuemei Zhang ◽  
Kevin A. Peng
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Current Treatment ◽  
Sensorineural Hearing ◽  
Initial Presentation ◽  
Vestibular Aqueduct ◽  
Long Term Follow Up ◽  
Inner Ear Disease ◽  
Fluctuating Hearing Loss

Background: Several otologic conditions can present with fluctuating sensorineural hearing loss, including Ménière’s disease, autoimmune inner ear disease, and enlarged vestibular aqueduct. Although these 3 etiologies vary greatly, distinguishing between these conditions at initial presentation can be challenging. Furthermore, initial treatment of these conditions is often similar. In this review, we discuss historical and current perspectives on diagnosis and treatment of these conditions. Summary: A literature search was performed regarding fluctuating hearing loss, and current treatment of these etiologies of fluctuating hearing loss was summarized. Immediate measures at the onset of acute hearing loss include corticosteroid therapy, while preventative and chronic therapies, which can limit disease severity and frequency, vary based on the specific condition treated. Key Messages: Fluctuating hearing loss can represent a range of pathologies, but the precise etiology may not be clear at initial presentation. Timely treatment and long-term follow-up, along with appropriate diagnostics, are necessary to optimize long-term hearing.

Three Familial Cases of Hearing Loss Associated with Enlargement of the Vestibular Aqueduct

1997 ◽  
Vol 106 (12) ◽  
pp. 1063-1069 ◽  
Author(s):  
Satoko Abe ◽  
Shin-ichi Usami ◽  
Hideichi Shinkawa
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
High Frequency ◽  
Present Report ◽  
Sensorineural Hearing ◽  
Familial Cases ◽  
Vestibular Aqueduct ◽  
Different Types ◽  
The Common

The present report describes three familial cases of recessive hearing loss associated with enlargement of the vestibular aqueduct (EVA). Six siblings from three families showed EVA. The common characteristic of these patients was the presence of congenital, high-frequency, fluctuating sensorineural hearing loss. These cases suggest that EVA may be a useful discriminator between different types of recessive hearing loss.

Enlarged Vestibular Aqueduct in Pediatric SNHL

2008 ◽  
Vol 139 (2_suppl) ◽  
pp. P104-P104
Author(s):  
Karuna Dewan ◽  
Judith C. Lieu
Keyword(s):  
Hearing Loss ◽  
Cochlear Implant ◽  
Sensorineural Hearing Loss ◽  
Temporal Bone ◽  
Pediatric Population ◽  
Sensorineural Hearing ◽  
Enlarged Vestibular Aqueduct ◽  
Vestibular Aqueduct ◽  
Current Estimation ◽  
Temporal Bone Ct

Problem Current diagnostic criteria for enlarged vestibular aqueduct (EVA), >1.5mm at the midpoint, was determined in the pre-CT era by Valvassori. Recent research, based on 73 CTs from children with no sensorineural hearing loss (SNHL), suggests new criteria for the diagnosis of EVA—midpoint of >0.9mm or operculum >1.9mm. We evaluated the proposed new radiographic, Cincinnati criteria for the diagnosis of EVA. Methods In a retrospective cohort study, we reviewed temporal bone CT scans of 130 pediatric cochlear implant recipients to measure the vestibular aqueduct midpoint and opercular width and 5 other temporal bone dimensions. Results The Cincinnati criteria identified 44% of patients with EVA versus 16% with the Valvassori criterion (P < 0.01). Of those with EVA, 45% were unilateral and 55% were bilateral using Cincinnati criteria; 64% were unilateral and 36% bilateral using Valvassori criterion (P<0.01). Right and left side measurements of vestibular aqueduct operculum (r=0.67, P<0.01) and midpoint (r=0.58, P<0.01) correlated substantially. The Cincinnati criteria diagnosed 70 ears with EVA classified as normal using the Valvassori criterion (P<0.01). Of these 70 ears, 59 had no other medical explanation for their hearing loss. Conclusion The Cincinnati criteria identified a large percentage of pediatric cochlear implant patients with EVA who otherwise had no known etiology for their deafness. Significant correlations between right and left side measurements suggest that EVA may not be morphologically asymmetric as previously thought. Significance The Cincinnati criteria potentially alters the current estimation of the most common etiologies of bilateral severe-to-profound sensorineural hearing loss in the pediatric population. Support KD is a Doris Duke Clinical Research Fellow, supported by the Doris Duke Foundation.

Distal Renal Tubular Acidosis Associated with Isolated Large Vestibular Aqueduct and Sensorineural Hearing Loss

2002 ◽  
Vol 111 (5) ◽  
pp. 385-391 ◽  
Author(s):  
Stefano Berrettini ◽  
Francesca Ravecca ◽  
Francesca Forli ◽  
Mauro Massimetti ◽  
Stefano Sellari Franceschini ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Renal Tubular Acidosis ◽  
Distal Renal Tubular Acidosis ◽  
Sensorineural Hearing ◽  
Molecular Defect ◽  
Recessive Trait ◽  
Vestibular Aqueduct ◽  
Recessive Form ◽  
Renal Tubular

Distal renal tubular acidosis (dRTA) is characterized by a defect in urinary acidification with various degrees of metabolic acidosis; it can be inherited either as an autosomal dominant trait or as a recessive trait. The recessive form is associated in about one third of cases with progressive sensorineural hearing loss (SNHL). We performed a neuroradiological study in 3 consecutive unrelated pediatric patients affected with sporadic dRTA and progressive SNHL that disclosed an enlarged vestibular aqueduct (VA) and endolymphatic sac (ES) in each. The presence of an enlarged VA in our patients with dRTA and SNHL could contribute to the development, or at least the progression, of the hearing impairment. We suppose that the same molecular defect present in both the kidney and the inner ear could be the cause of dRTA and of the development of the enlarged VA and ES.

Hyperbaric oxygen therapy for sudden sensorineural hearing loss in large vestibular aqueduct syndrome

2013 ◽  
Vol 128 (S1) ◽  
pp. S50-S54 ◽  
Author(s):  
H Shilton ◽  
M Hodgson ◽  
G Burgess
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Hyperbaric Oxygen ◽  
Hyperbaric Oxygen Therapy ◽  
Oxygen Therapy ◽  
Sudden Sensorineural Hearing Loss ◽  
Sensorineural Hearing ◽  
Vestibular Aqueduct ◽  
Large Vestibular Aqueduct Syndrome ◽  
Large Vestibular Aqueduct

AbstractIntroduction:We report the first use in Australia of hyperbaric oxygen therapy for sudden hearing loss following head trauma in a child with large vestibular aqueduct syndrome.Case report:A 12-year-old boy with large vestibular aqueduct syndrome presented with significant hearing loss following head trauma. He was treated with steroids and hyperbaric oxygen therapy, with good improvement of hearing thresholds on audiography. This case represents the first reported use of hyperbaric oxygen therapy for this indication in Australia, following a few previous reports of patients in Japan. We review the literature on management of acute sensorineural hearing loss in large vestibular aqueduct syndrome. The reported case demonstrates a potentially beneficial therapy for a rare condition that usually results in an inevitable decline in hearing.Conclusion:Hyperbaric oxygen therapy can be tolerated well by children, and may represent a potential treatment for sudden sensorineural hearing loss in patients with large vestibular aqueduct syndrome.

Etiologic diagnosis of sensorineural hearing loss in adults

2005 ◽  
Vol 132 (6) ◽  
pp. 890-895 ◽  
Author(s):  
Simon I. Angeli ◽  
Denise Yan ◽  
Fred Telischi ◽  
Thomas J. Balkany ◽  
Xiao M. Ouyang ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Mitochondrial Dna ◽  
Sensorineural Hearing Loss ◽  
Medical Center ◽  
Academic Medical Center ◽  
Sensorineural Hearing ◽  
Gjb2 Gene ◽  
High Resolution Computed Tomography ◽  
Vestibular Aqueduct ◽  
Etiologic Diagnosis

OBJECTIVE: To determine the etiology of adult-onset sensorineural hearing loss. STUDY DESIGN AND SETTING: This is a prospective cohort study of 60 adult subjects with bilateral sensorineural hearing loss of no obvious etiology by medical history and physical examination. These patients were evaluated at an academic medical center and underwent evaluation by high-resolution computed tomography of the temporal bone, autoimmune panel, and DNA testing for mutations of both the GJB2 gene and the mitochondrial DNA (1555A>G and 7445A>G). RESULTS: An etiologic diagnosis was achieved in 6 patients: cochlear otosclerosis, 1 case; dilated vestibular aqueduct, 1 case; a mitochondrial DNA 7445A>G mutation, 3 cases; and a mitochondrial DNA 1555A>G mutation, 1 case. CONCLUSION: This result underscores the importance of a search for the etiology of a hearing deficit in adult patients. There are specific interventions now available for the management of hearing-impaired patients with cochlear otosclerosis and mitochondrial DNA mutations.

The Enlarged Vestibular Aqueduct Syndrome (EVA Syndrome)

1993 ◽  
Vol 72 (11) ◽  
pp. 746-751 ◽  
Author(s):  
Walter M. Belenky ◽  
David N. Madgy ◽  
Jeffrey S. Leider ◽  
Christie J. Becker ◽  
Andrew J. Hotaling
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Round Window ◽  
Sensorineural Hearing ◽  
Fistula Formation ◽  
Enlarged Vestibular Aqueduct ◽  
Children's Hospital ◽  
Vestibular Aqueduct ◽  
Extensive Evaluation ◽  
Children’S Hospital

The presentation to the Department of Pediatric Otolaryngology at the Children's Hospital of Michigan of a series of patients with sensorineural hearing loss and enlargement of the vestibular aqueduct prompted exploratory tympanotomy in three patients (two unilateral and one bilateral), for a total of four ears. These explorations were prompted by progression and/or fluctuation of hearing levels. The discovery of abnormal round windows in all four ears with a post-traumatic fistula present in one ear suggested the presence of a new association. A previously undescribed association of an enlarged vestibular aqueduct, sensorineural hearing loss and round window abnormality with potential fistula formation was identified. A review of the anatomy and physiology, literature review, and a prospective analysis with discussion of eight patients with enlarged vestibular aqueduct syndrome evaluated and treated at Children's Hospital of Michigan, is presented. We conclude that all children with sensorineural hearing loss should undergo extensive evaluation to determine etiology, including radiographic studies of the temporal bone. Further, the presence of an enlarged vestibular aqueduct should prompt the otolaryngologist to consider the presence of a round window abnormality and the potential for predisposition to perilymph fistula.

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