Prevalence of GJB2 gene mutation in 330 cochlear implant patients in the Jiangsu province

2016 ◽  
Vol 130 (10) ◽  
pp. 902-906 ◽  
Author(s):  
L Shi ◽  
J Chen ◽  
J Li ◽  
X Wei ◽  
X Gao
Keyword(s):  
Hearing Loss ◽  
Cochlear Implant ◽  
Gene Mutation ◽  
Cochlear Implantation ◽  
Gene Mutations ◽  
Jiangsu Province ◽  
Gjb2 Gene ◽  
Novel Mutations ◽  
Pathogenic Mutations

AbstractObjective:GJB2 gene mutations are highly prevalent in pre-lingual hearing loss patients from China. Pre-lingual deafness is a sensorineural disorder that can only be treated with cochlear implantation.Method:The prevalence of GJB2 gene mutations was examined in 330 randomly selected patients treated with cochlear implantation.Results:Overall, 276 patients (83.64 per cent) carried variations in the GJB2 gene. Seventeen different genotypes were identified, including 10 confirmed pathogenic mutations (c.235delC, c.299delAT, c.176del16, p.E47X, p.T123N, p.V167M, p.C218Y, p.T86R, p.V63L and p.R184Q), 3 polymorphisms (p.V27I, p.E114 G and p.I203 T) and 2 unidentified mutations (p.V37I and c.571 T > C).Conclusion:A total of 103 patients (31.2 per cent) carried 2 confirmed pathogenic mutations. The frequency of c.235delC was higher than that reported previously in the Jiangsu province. The two novel mutations identified, 69C > G and 501G > A, are likely to be polymorphisms.

Association of GJB2 gene mutation with cochlear implant performance in genetic non-syndromic hearing loss

2011 ◽  
Vol 75 (12) ◽  
pp. 1572-1575 ◽  
Author(s):  
Recep Karamert ◽  
Yildirim A. Bayazit ◽  
Senay Altinyay ◽  
Akın Yılmaz ◽  
Adnan Menevse ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Cochlear Implant ◽  
Gene Mutation ◽  
Gjb2 Gene ◽  
Syndromic Hearing Loss

Impact of Cochlear Implantation on Neurocognitive Subdomains in Adult Cochlear Implant Recipients

2021 ◽  
pp. 1-10
Author(s):  
Christiane Völter ◽  
Lisa Götze ◽  
Imme Haubitz ◽  
Janine Müther ◽  
Stefan Dazert ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Cochlear Implant ◽  
Cochlear Implantation ◽  
Verbal Fluency ◽  
Homogeneous Population ◽  
Delayed Recall ◽  
Hearing Status ◽  
Age Related ◽  
Significant Difference ◽  
The Impact

<b><i>Introduction:</i></b> Age-related hearing loss affects about one-third of the population worldwide. Studies suggest that hearing loss may be linked to cognitive decline and auditory rehabilitation may improve cognitive functions. So far, the data are limited, and the underlying mechanisms are not fully understood. The study aimed to analyze the impact of cochlear implantation on cognition in a large homogeneous population of hearing-impaired adults using a comprehensive non-auditory cognitive assessment with regard to normal-hearing (NH) subjects. <b><i>Material and Methods:</i></b> Seventy-one cochlear implant (CI) candidates with a postlingual, bilateral severe or profound hearing loss aged 66.3 years (standard deviation [SD] 9.2) and 105 NH subjects aged 65.96 years (SD 9.4) were enrolled. The computer-based neurocognitive tool applied included 11 subtests covering attention (M3), short- and long-term memory (recall and delayed recall), working memory (0- and 2-back, Operation Span [OSPAN] task), processing speed (Trail Making Test [TMT] A), mental flexibility (TMT B), inhibition (cFlanker and iFlanker), and verbal fluency. CI patients underwent a neurocognitive testing preoperatively as well as 12 months postoperatively. Impact of hearing status, age, gender, and education on cognitive subdomains was studied. Additionally, after controlling for education and age, cognitive performance of CI subjects (<i>n</i> = 41) was compared to that of NH (<i>n</i> = 34). <b><i>Results:</i></b> CI users achieved significantly better neurocognitive scores 12 months after cochlear implantation than before in most subtests (M3, [delayed] recall, 2-back, OSPAN, iFlanker, and verbal fluency; all <i>p</i> &#x3c; 0.05) except for the TMT A and B. A significant correlation could be found between the postoperative improvement in speech perception and in the attentional task M3 (<i>p</i> = 0.01). Hearing status (<i>p</i> = 0.0006) had the strongest effect on attention, whereas education had a high impact on recall (<i>p</i> = 0.002), OSPAN (<i>p</i> = 0.0004), and TMT A (<i>p</i> = 0.005) and B (<i>p</i> = 0.003). Inhibition was mainly age-dependent with better results in younger subjects (<i>p</i> = 0.016). Verbal fluency was predicted by gender as females outperformed men (<i>p</i> = 0.009). Even after controlling for age and education NH subjects showed a significantly better performance than CI candidates in the recall (<i>p</i> = 0.03) and delayed recall (<i>p</i> = 0.01) tasks. Postoperatively, there was no significant difference between the 2 groups anymore. <b><i>Conclusion:</i></b> Impact of cochlear implantation on neurocognitive functions differs according to the cognitive subdomains. Postoperatively, CI recipients performed as good as age- and education-matched NH subjects.

Cochlear Implant Patients with Superficial Siderosis

2009 ◽  
Vol 20 (06) ◽  
pp. 348-352 ◽  
Author(s):  
Sarah A. Sydlowski ◽  
Michael J. Cevette ◽  
Jon Shallop ◽  
David M. Barrs
Keyword(s):  
Central Nervous System ◽  
Hearing Loss ◽  
Cochlear Implant ◽  
Cochlear Implantation ◽  
Case Reports ◽  
Superficial Siderosis ◽  
Viable Option ◽  
Retrospective Case ◽  
Fatal Disease ◽  
The Central Nervous System

Background: Considered a rare disorder, superficial siderosis of the central nervous system (SSCN) has become more frequently diagnosed in recent years. As it is characterized by progressive sensorineural hearing loss, patients' needs may surpass the capability of hearing aid technology. Despite the retrocochlear nature of the disorder, patients have undergone cochlear implantation (CI) with varying success. Purpose: To summarize the issues surrounding cochlear implant candidates with SSCN as well as highlight trends in performance postimplantation. Research Design: Retrospective case reports of seven cochlear implant candidates detail the symptoms, typical audiologic presentation, and array of clinical issues for patients with this progressive and potentially fatal disease. Results: Despite the retrocochlear component of a hearing loss caused by SSCN, cochlear implantation may be a viable option. Conclusions: It is essential that the CI audiologist not only be aware of the disorder but also be well versed in the resulting implications for the cochlear implant process. A more thorough case history, an expanded candidacy test battery, and knowledge of the typical presentation of SSCN are critical. The diagnosis of SSCN will impact expectations for success with the cochlear implant, and counseling should be adjusted accordingly.

scholarly journals Complications of cochlear implant surgery

2004 ◽  
Vol 132 (9-10) ◽  
pp. 302-305 ◽  
Author(s):  
Rade Kosanovic ◽  
Zoran Ivankovic ◽  
Sandra Stojanovic
Keyword(s):  
Hearing Loss ◽  
Cochlear Implant ◽  
Cochlear Implantation ◽  
Fatal Outcome ◽  
Modern Technology ◽  
Hearing Impairments ◽  
Severe Hearing Loss ◽  
Cochlear Implant Surgery ◽  
Coding Strategies ◽  
The World

During the last several decades, cochlear implant has been fully recognized in treatment of severe hearing loss. Development of modern technology enabled inconceivable possibilities of technical qualities of the device as well as development of usable coding strategies, which led to extraordinary results in patient rehabilitation. Although cochlear implantation has become one of the routine operative procedures throughout the world nowadays, it gives rise to certain complications. These complications, though rare, can sometimes be very serious, even with fatal outcome. If cochlear implantation is performed by experienced and well-educated team of experts, the possibility of complications is minimal and is certainly not the argument against cochlear implantation as a method of treatment of severe hearing impairments.

scholarly journals Study on the relationship between the pathogenic mutations of SLC26A4 and CT phenotypes of inner ear in patient with sensorineural hearing loss

2019 ◽  
Vol 39 (3) ◽  
Author(s):  
Lihua Wu ◽  
Yunliang Liu ◽  
Jianman Wu ◽  
Sheng Chen ◽  
Shupin Tang ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Ct Scan ◽  
Inner Ear ◽  
Gene Mutations ◽  
Pathogenic Mutation ◽  
Vestibular Aqueduct ◽  
Slc26a4 Gene ◽  
Pathogenic Mutations ◽  
Inner Ear Malformation ◽  
Single Allele

Abstract To investigate the possible association of pathogenic mutations of SLC26A4 and computerized tomography (CT) phenotypes of inner ear, and explore the feasibility of using the method of gene sequence analysis. A total of 155 patients with bilateral hearing loss carrying SLC26A4 gene mutations were further subjected to high-resolution temporal bone CT and thyroid B ultrasound tests. The potential relationship between the pathogenic mutations of gene and the CT phenotypes were analyzed. As a result, 65 patients (41.9%, 65/155) carried SLC26A4 gene mutations, and 27 cases were detected with pathogenic mutations of SLC26A4 where IVS7-2A>G (55.6%, 15/27) was the most common pathogenic mutation. Amongst them, 19 patients carrying bi-allelic SLC26A4 mutations were all confirmed to have inner ear malformation by CT scan including four cases of enlarged vestibular aqueduct (EVA) and 15 cases of Mondini dysplasia (MD). However, there was only one in eight cases of single allele pathogenic mutation who was confirmed to have EVA by CT scan. Further, only one patient with EVA was confirmed to be slightly higher of total T3 than normal by thyroid ultrasound scan and thyroid hormone assays. These findings suggested that CT detection and SLC26A4 gene detection are efficient methods to diagnose EVA, which can complement each other. Also, the bi-allelic pathogenic mutations of SLC26A4 are more likely to induce inner ear malformation than single allele pathogenic mutation.

Audiological outcome of stapes surgery for far advanced cochlear otosclerosis

2017 ◽  
Vol 131 (11) ◽  
pp. 961-964 ◽  
Author(s):  
C Heining ◽  
R Banga ◽  
R Irving ◽  
C Coulson ◽  
P Monksfield
Keyword(s):  
Hearing Loss ◽  
Cochlear Implant ◽  
Revision Surgery ◽  
Cochlear Implantation ◽  
Stapes Surgery ◽  
Hearing Thresholds ◽  
Suitable Treatment ◽  
Conductive Component ◽  
Clinically Significant ◽  
Hearing Outcomes

AbstractBackground:Patients with advanced otosclerosis can present with hearing thresholds eligible for cochlear implantation. This study sought to address whether stapes surgery in this patient group provides a clinically significant audiological benefit.Objectives:To assess pre- and post-operative hearing outcomes of patients with advanced otosclerosis, and to determine what proportion of these patients required further surgery including cochlear implantation.Methods:Between 2002 and 2015, 252 patients underwent primary stapes surgery at our institution. Twenty-eight ears in 25 patients were deemed to have advanced otosclerosis, as defined by pure audiometry thresholds over 80 dB. The patients’ records were analysed to determine audiological improvement following stapes surgery, and assess whether any further surgery was required.Results:The audiological outcome for most patients who underwent primary stapes surgery was good. A minority of patients (7 per cent) required revision surgery. Patients who underwent cochlear implantation after stapes surgery (10 per cent) also demonstrated a good audiological outcome.Conclusion:Stapes surgery is a suitable treatment option for patients with advanced otosclerosis, and should be considered mandatory, before offering cochlear implantation, for those with a demonstrable conductive component to their hearing loss. A small group of patients get little benefit from surgery and subsequently a cochlear implant should be considered.

Update of the spectrum of GJB2 gene mutations in Tunisian families with autosomal recessive nonsyndromic hearing loss

Gene ◽  
2013 ◽  
Vol 525 (1) ◽  
pp. 1-4 ◽  
Author(s):  
Zied Riahi ◽  
Hassen Hammami ◽  
Houyem Ouragini ◽  
Habib Messai ◽  
Rim Zainine ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Autosomal Recessive ◽  
Gene Mutations ◽  
Gjb2 Gene ◽  
Nonsyndromic Hearing Loss

scholarly journals Spectrum and Frequency of the GJB2 Gene Mutations Among Latvian Patients with Prelingual Nonsyndromic Hearing Loss

2009 ◽  
Vol 63 (4-5) ◽  
pp. 198-203
Author(s):  
Olga Šterna ◽  
Natālija Proņina ◽  
Ieva Grīnfelde ◽  
Sandra Kušķe ◽  
Astrīda Krūmiņa ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Gene Mutations ◽  
Gjb2 Gene ◽  
Connexin 26 ◽  
Compound Heterozygous ◽  
Nonsyndromic Hearing Loss ◽  
Profound Hearing Loss ◽  
Common Cause ◽  
Gjb2 Mutation ◽  
35Delg Mutation

Spectrum and Frequency of the GJB2 Gene Mutations Among Latvian Patients with Prelingual Nonsyndromic Hearing Loss Mutations in the GJB2 gene (connexin 26) are the most common cause of congenital nonsyndromic severe-to-profound hearing loss. Sixty-five hearing impaired probands from Latvia were tested for mutations in the GJB2 gene to determine the percentage of hearing loss attributed to connexin 26 and the types of mutations in this population. A total of 62% of patients tested had GJB2 mutations. Four different mutations in the GJB2 gene were identified in Latvian patients with nonsyndromic sensorineural hearing loss: 35delG, 311-324del14, 235delC and M34T. The most prevalent mutation is 35delG (47% of all probands were homozygous and 8% compound heterozygous). Our findings support the conclusion that the 35delG mutation is the most prevalent GJB2 mutation and that it is the common cause of hereditary nonsyndromic hearing loss in populations of European descent.

Cochlear Implants in Children: Reliability of Computed Tomography

1992 ◽  
Vol 107 (3) ◽  
pp. 410-417 ◽  
Author(s):  
Michael A. Seicshnaydre ◽  
Michele H. Johnson ◽  
M. Suzanne Hasenstab ◽  
George H. Williams
Keyword(s):  
Computed Tomography ◽  
Hearing Loss ◽  
Cochlear Implant ◽  
Temporal Bone ◽  
Cochlear Implants ◽  
Cochlear Implantation ◽  
Ct Scans ◽  
Presurgical Evaluation ◽  
Preoperative Ct ◽  
Ct Studies

Preoperative temporal bone computed tomography (CT) can demonstrate anatomic details relevant to surgical management and is therefore essential in the presurgical evaluation of patients receiving cochlear implants. The purpose of this study was to evaluate preoperative CT studies and compare them to surgical findings in 34 children who received the Nucleus multichannel cochlear implant. The focus of this report is to discuss the dependability of CT scans in predicting surgical findings at the time of cochlear implantation. Results indicate that agreement of CT interpretations with surgical findings is partially related to the etiology of hearing loss and the experience of the surgeon and neuroradiologist. Advantages and limitations of the CT scans in predicting surgical findings are discussed.

scholarly journals Cochlear implant surgery at the Clinical Center of Vojvodina - ten-year experience

2014 ◽  
Vol 67 (suppl. 1) ◽  
pp. 25-31
Author(s):  
Dragan Dankuc ◽  
Darja Segan ◽  
Zoran Komazec ◽  
Ljiljana Vlaski ◽  
Slobodanka Lemajic-Komazec ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Facial Nerve ◽  
Cochlear Implant ◽  
Surgical Procedures ◽  
Cochlear Implantation ◽  
Facial Nerve Paralysis ◽  
Nerve Paralysis ◽  
Implant Surgery ◽  
Clinical Center ◽  
Cochlear Implant Surgery

Introduction. The first cochlear implant surgery was performed at the Center for Cochlear Implantation of the Department of Ear, Nose and Throat Diseases, Clinical Center of Vojvodina in 2002 after long preparations and that was the first successful cochlear implantation in Serbia. Material and Methods. Over the period from November 2002 to November 2013, 99 patients underwent surgical procedures and 100 cochlear implants were placed. Results. The analysis encompassed 99 patients, the youngest and the oldest one being 1 year and 61 years old, respectively. Prelingual and postlingual deafness developed in 84 (84.9%) and in 15 (15.1%), respectively. Postlingual deafness was observed in all 11 adult patients. The prelingual deafness was diagnosed in 84 (95.4%) children, whereas in four (4.6%) children it occurred after the development of speech between 6 and 8 years of age. Progressive hearing loss was observed in 11 patients - seven adults and four children. The majority of our patients, i.e. 74 (74.75%) manifested idiopathic deafness of unknown cause. A range of usually reported hearing loss etiologies included ototoxic medications in seven (7.07%), hereditary factor in six (6.06%), and bacterial meningitis in four (4.04%) patients. Somewhat less common causes were perinatal hypoxia in three (3.03%), premature birth in three (3.03%), Down syndrome in one (1.01%), and chronic otitis media in one (1.01%) patient. Conclusion. Both intraoperative and postoperative complications were analyzed in the investigated patient population. The complications developed in 11 patients, i.e. in 10.5% of 105 surgical procedures. The majority of procedures (89.5%) were not accompanied by any post-surgical complications. Unsuccessful implantation in a single-step procedure and transient facial nerve paralysis can be considered most frequent among our patients, whereas cochlear ossification and transient ataxia occurred more rarely. Stimulation of facial nerve, intraoperative perilymph liquid gusher, device failure and late infections were recorded extremely rarely.

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