scholarly journals Molecular Modelling-Based Investigations of a Mutant Protein in Patients with Hearing Loss

10.5772/58398 ◽  
2014 ◽  
Author(s):  
Kazunori Namba
Keyword(s):  
Hearing Loss ◽  
Molecular Modelling ◽  
Mutant Protein

Mechanism of a novel missense mutation, p.V174M, of the human connexin31 (GJB3) in causing nonsyndromic hearing loss

2014 ◽  
Vol 92 (4) ◽  
pp. 251-257 ◽  
Author(s):  
Tung-Cheng Li ◽  
Yu-Hsiang Kuan ◽  
Tzu-Yu Ko ◽  
Chuan Li ◽  
Jiann-Jou Yang
Keyword(s):  
Hearing Loss ◽  
Gap Junction ◽  
Missense Mutation ◽  
Functional Change ◽  
Dominant Negative ◽  
Mutant Protein ◽  
Dominant Negative Effect ◽  
Nonsyndromic Hearing Loss ◽  
Dye Transfer ◽  
Gap Junction Channel

Hearing loss is the most common sensory disorder, worldwide. In a recent study, we have identified a missense mutation, p.V174M, in the connexin 31 encoded by the GJB3 gene, in a patient with nonsyndromic hearing loss. However, the functional change in the CX31V174M mutant remains unknown. This study compared the intracellular distribution and assembly of the mutant CX31V174M with that of the wild-type (WT) CX31 in HeLa cells, and it examined the effect that the mutant protein had on those cells. A fluorescent localization assay of WT CX31 showed the typical punctuate pattern of a gap junction channel between the neighboring expression cells. Conversely, the p.V174M missense mutation resulted in the accumulation of the mutant protein in the lysosomes rather than in the cytoplasmic membrane. Moreover, dye transfer experiments have also demonstrated that the CX31V174M mutant did not form functional gap junction channels, probably due to the incorrect assembly or the altered properties of the CX31 channels. In addition, we found that CX31V174M-transfection can cause cell death by MTT assay. CX31V174M co-expressed with either CX31WT or CX26WT studies, suggested the impairment of the ability of CX26WT proteins to intracellular trafficking and targeting to the plasma membrane, but did not influence the trafficking of CX31WT. Based on these findings, we suggest that the CX31V174M mutant may have an effect on the formation and function of the gap junction, and CX31V174M has a trans-dominant negative effect on the function of wild types CX26. These results provide a novel molecular explanation for the role that GJB3 plays in hearing loss.

Fluorocitrate Neural Dystrophy of the Guinea Pig Cochlea

1975 ◽  
Vol 33 ◽  
pp. 368-369
Author(s):  
G.J. Spector ◽  
C.D. Carr ◽  
I. Kaufman Arenberg ◽  
R.H. Maisel
Keyword(s):  
Hearing Loss ◽  
Hair Cells ◽  
Sodium Phosphate ◽  
Sensory Cells ◽  
Barium Salt ◽  
Perfusion Medium ◽  
Cochlear Hair Cells ◽  
Neural Degeneration ◽  
Sodium Phosphate Buffer ◽  
Cochlear Neurons

All studies on primary neural degeneration in the cochlea have evaluated the end stages of degeneration or the indiscriminate destruction of both sensory cells and cochlear neurons. We have developed a model which selectively simulates the dystrophic changes denoting cochlear neural degeneration while sparing the cochlear hair cells. Such a model can be used to define more precisely the mechanism of presbycusis or the hearing loss in aging man.Twenty-two pigmented guinea pigs (200-250 gm) were perfused by the perilymphatic route as live preparations using fluorocitrate in various concentrations (15-250 ug/cc) and at different incubation times (5-150 minutes). The barium salt of DL fluorocitrate, (C6H4O7F)2Ba3, was reacted with 1.0N sulfuric acid to precipitate the barium as a sulfate. The perfusion medium was prepared, just prior to use, as follows: sodium phosphate buffer 0.2M, pH 7.4 = 9cc; fluorocitrate = 15-200 mg/cc; and sucrose = 0.2M.

Teacher Identification of Elementary School Children with Hearing Loss

1978 ◽  
Vol 9 (1) ◽  
pp. 24-28 ◽  
Author(s):  
Richard H. Nodar
Keyword(s):  
Elementary School ◽  
Hearing Loss ◽  
School Children ◽  
Elementary School Children ◽  
Total Sample ◽  
Hearing Impaired ◽  
Teacher Interviews ◽  
Teacher Screening ◽  
Children With Hearing Loss ◽  
Hearing Problems

The teachers of 2231 elementary school children were asked to identify those with known or suspected hearing problems. Following screening, the data were compared. Teachers identified 5% of the children as hearing-impaired, while screening identified only 3%. There was agreement between the two procedures on 1%. Subsequent to the teacher interviews, rescreening and tympanometry were conducted. These procedures indicated that teacher screening and tympanometry were in agreement on 2% of the total sample or 50% of the hearing-loss group. It was concluded that teachers could supplement audiometry, particularly when otoscopy and typanometry are not available.

A Clinical Study of Twenty-seven Children Exhibiting Functional Hearing Loss

1981 ◽  
Vol 12 (1) ◽  
pp. 26-35 ◽  
Author(s):  
Donald L. McCanna ◽  
Giacinto DeLapa
Keyword(s):  
Hearing Loss ◽  
Clinical Study ◽  
Early Identification ◽  
Behavioral Responses ◽  
Upper Elementary ◽  
Elementary Grades ◽  
Ability Level ◽  
Hearing Problem

This report reviews 27 cases of children exhibiting functional hearing loss. The study reveals that most students were in the upper elementary grades and were predominantly females. These subjects were functioning below their ability level in school and were usually in conflict with school, home, or peers. Tests used were selected on the basis of their helping to provide early identification. The subjects' oral and behavioral responses are presented, as well as ways of resolving the hearing problem. Some helpful counseling techniques are also presented.

Dimensions of Multiskilling

1999 ◽  
Vol 30 (1) ◽  
pp. 4-10 ◽  
Author(s):  
Carole E. Johnson
Keyword(s):  
Hearing Loss ◽  
Service Delivery ◽  
Monitoring Program ◽  
School Age Children ◽  
School Age ◽  
Support Personnel ◽  
Educational Personnel ◽  
Educational Audiology ◽  
Children With Hearing Loss ◽  
Improve Service Delivery

Educational audiologists often must delegate certain tasks to other educational personnel who function as support personnel and need training in order to perform assigned tasks. Support personnel are people who, after appropriate training, perform tasks that are prescribed, directed, and supervised by a professional such as a certified and licensed audiologist. The training of support personnel to perform tasks that are typically performed by those in other disciplines is calledmultiskilling. This article discusses multiskilling and the use of support personnel in educational audiology in reference to the following principles: guidelines, models of multiskilling, components of successful multiskilling, and "dos and don’ts" for multiskilling. These principles are illustrated through the use of multiskilling in the establishment of a hearing aid monitoring program. Successful multiskilling and the use of support personnel by educational audiologists can improve service delivery to school-age children with hearing loss.

The Relationship Between Hearing Loss Self-Management and Hearing Aid Benefit and Satisfaction

2019 ◽  
Vol 28 (2) ◽  
pp. 274-284 ◽  
Author(s):  
Elizabeth Convery ◽  
Gitte Keidser ◽  
Louise Hickson ◽  
Carly Meyer
Keyword(s):  
Decision Making ◽  
Hearing Loss ◽  
Hearing Aids ◽  
Clinical Decision Making ◽  
Hearing Aid ◽  
Well Being ◽  
Self Report ◽  
Self Management ◽  
Hearing Aid Benefit ◽  
The Relationship

Purpose Hearing loss self-management refers to the knowledge and skills people use to manage the effects of hearing loss on all aspects of their daily lives. The purpose of this study was to investigate the relationship between self-reported hearing loss self-management and hearing aid benefit and satisfaction. Method Thirty-seven adults with hearing loss, all of whom were current users of bilateral hearing aids, participated in this observational study. The participants completed self-report inventories probing their hearing loss self-management and hearing aid benefit and satisfaction. Correlation analysis was used to investigate the relationship between individual domains of hearing loss self-management and hearing aid benefit and satisfaction. Results Participants who reported better self-management of the effects of their hearing loss on their emotional well-being and social participation were more likely to report less aided listening difficulty in noisy and reverberant environments and greater satisfaction with the effect of their hearing aids on their self-image. Participants who reported better self-management in the areas of adhering to treatment, participating in shared decision making, accessing services and resources, attending appointments, and monitoring for changes in their hearing and functional status were more likely to report greater satisfaction with the sound quality and performance of their hearing aids. Conclusion Study findings highlight the potential for using information about a patient's hearing loss self-management in different domains as part of clinical decision making and management planning.

Speech-Language Pathologists' Perceptions of School-Based Services for Children With Hearing Loss

2020 ◽  
Vol 51 (2) ◽  
pp. 469-478
Author(s):  
Sarah Allen ◽  
Robert Mayo
Keyword(s):  
Hearing Loss ◽  
Online Survey ◽  
Working Relationships ◽  
Speech Language Pathologists ◽  
School Aged Children ◽  
School Based ◽  
Significant Difference ◽  
Positive Feelings ◽  
Children With Hearing Loss ◽  
Perceptions Of School

Purpose School-aged children with hearing loss are best served by a multidisciplinary team of professionals. The purpose of this research was to assess school-based speech-language pathologists' (SLPs) perceptions of their access to, involvement of, and working relationships with educational audiologists in their current work setting. Method An online survey was developed and distributed to school-based SLPs in North Carolina. Results A significant difference in access to and involvement of educational audiologists across the state was found. Conclusions This research contributes to professional knowledge by providing information about current perceptions in the field about interprofessional practice in a school-based setting. Overall, SLPs reported positive feelings about their working relationship with educational audiologists and feel the workload is distributed fairly.

A Pilot Study of Early Storybook Reading With Babies With Hearing Loss

2019 ◽  
Vol 62 (9) ◽  
pp. 3397-3412
Author(s):  
Michelle I. Brown ◽  
David Trembath ◽  
Marleen F. Westerveld ◽  
Gail T. Gillon
Keyword(s):  
Hearing Loss ◽  
Pilot Study ◽  
Visual Analysis ◽  
Single Case ◽  
Eye Contact ◽  
Preliminary Evidence ◽  
Storybook Reading ◽  
Book Selection ◽  
Turn Taking ◽  
Parent Child

Purpose This pilot study explored the effectiveness of an early storybook reading (ESR) intervention for parents with babies with hearing loss (HL) for improving (a) parents' book selection skills, (b) parent–child eye contact, and (c) parent–child turn-taking. Advancing research into ESR, this study examined whether the benefits from an ESR intervention reported for babies without HL were also observed in babies with HL. Method Four mother–baby dyads participated in a multiple baseline single-case experimental design across behaviors. Treatment effects for parents' book selection skills, parent–child eye contact, and parent–child turn-taking were examined using visual analysis and Tau-U analysis. Results Statistically significant increases, with large to very large effect sizes, were observed for all 4 participants for parent–child eye contact and parent–child turn-taking. Limited improvements with ceiling effects were observed for parents' book selection skills. Conclusion The findings provide preliminary evidence for the effectiveness of an ESR intervention for babies with HL for promoting parent–child interactions through eye contact and turn-taking.

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