Τρίτη 14 Νοεμβρίου 2017

Erratum.

Related Articles

Erratum.

J Am Acad Audiol. 2017 Nov/Dec;28(10):961

Authors:

Abstract
[This corrects the article DOI: 10.3766/jaaa.15105.].

PMID: 29130444 [PubMed - in process]



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Unraveling the Mystery of Auditory Brainstem Response Corrections: The Need for Universal Standards.

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Unraveling the Mystery of Auditory Brainstem Response Corrections: The Need for Universal Standards.

J Am Acad Audiol. 2017 Nov/Dec;28(10):950-960

Authors: Norrix LW, Velenovsky D

Abstract
BACKGROUND: The auditory brainstem response (ABR) is used to estimate behavioral hearing thresholds in infants and difficult-to-test populations. Differences between the toneburst ABR and behavioral thresholds exist making the correspondence between the two measures less than perfect. Some authors have suggested that corrections be applied to ABR thresholds to account for these differences. However, because there is no agreed upon universal standard, confusion regarding the use of corrections exists.
PURPOSE: The primary purpose of this article is to review the reasoning behind and use of corrections when the toneburst ABR is employed to estimate behavioral hearing thresholds. We also discuss other considerations that all audiologists should be aware of when obtaining and reporting ABR test results.
RESULTS: A review of the purpose and use of corrections reveals no consensus as to whether they should be applied or which should be used. Additionally, when ABR results are adjusted, there is no agreement as to whether additional corrections for hearing loss or the age of the client are necessary. This lack of consensus can be confusing for all individuals working with hearing-impaired children and their families.
CONCLUSIONS: Toneburst ABR thresholds do not perfectly align with behavioral hearing thresholds. Universal protocols for the use of corrections are needed. Additionally, evidence-based procedures must be employed to obtain valid ABRs that will accurately estimate hearing thresholds.

PMID: 29130443 [PubMed - in process]



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Outcomes of Hearing Aid Use by Individuals with Unilateral Sensorineural Hearing Loss (USNHL).

Related Articles

Outcomes of Hearing Aid Use by Individuals with Unilateral Sensorineural Hearing Loss (USNHL).

J Am Acad Audiol. 2017 Nov/Dec;28(10):941-949

Authors: Bishop CE, Hamadain E, Galster JA, Johnson MF, Spankovich C, Windmill I

Abstract
BACKGROUND: Unilateral sensorineural hearing loss (USNHL) can have a negative impact on functions associated with the advantages of balanced, binaural hearing. Although single-sided deafness, which is a complete loss of audibility in one ear, has gained increased interest in the published research, there is a gap in the literature concerning hearing aid outcomes for individuals with residual, or otherwise "aidable," hearing in the affected ear.
PURPOSE: To assess hearing aid outcomes for a group of individuals with USNHL with residual, aidable function.
RESEARCH DESIGN: A quasi-experimental study of hearing aid outcomes with paired comparisons made between unaided and aided test conditions.
STUDY SAMPLE: A convenience sample of twenty-two individuals with USNHL, with sufficient residual hearing in the affected ear as to receive audibility from use of a hearing aid, were recruited into the study from September 2011 to August 2012.
INTERVENTION: Each participant was fit with a digital behind-the-ear hearing aid coupled to a custom ear mold.
DATA COLLECTION AND ANALYSIS: Assessments were performed at baseline (unaided) and after a three-month field trial (aided) with primary outcomes involving objective measures in sound field yielding signal-to-noise ratio loss (SNR Loss) via the Quick Speech-in-Noise Test and word recognition scores (WRS) via the Northwestern University Auditory Test, No. 6. Outcomes also involved the administration of two well-established subjective benefit questionnaires: The Abbreviated Profile of Hearing Aid Benefit (APHAB) and the 49-item Speech, Spatial, and Qualities of Hearing Scale (SSQ49).
RESULTS: As a group, participants showed significantly improved median SNR Loss thresholds when aided in a test condition that included spatial separation of speech and noise, with speech stimuli directed toward the worse ear and noise stimuli directed toward the better ear (diff. = -4.5; p < 0.001). Hearing aid use had a small, though statistically significant, negative impact on median SNR Loss thresholds, when speech and noise stimuli originated from the same 0° azimuth (diff. = 1.0; p = 0.018). This was also evidenced by the median WRS in sound field (diff. = -6.0; p = 0.006), which was lowered from 98% in the unaided state to 92% in the aided state. Results from the SSQ49 showed statistically significant improvement on all subsection means when participants were aided (p < 0.05), whereas results from the APHAB were generally found to be unremarkable between unaided and aided conditions as benefit was essentially equal to the 50th percentile of the normative data. At the close of the study, it was observed that only slightly more than half of all participants chose to continue use of a hearing aid after their participation.
CONCLUSIONS: We observed that hearing aid use by individuals with USNHL can improve the SNR Loss associated with the interference of background noise, especially in situations when there is spatial separation of the stimuli and speech is directed toward the affected ear. In addition, hearing aid use by these individuals can provide subjective benefit, as evidenced by the APHAB and SSQ49 subjective benefit questionnaires.

PMID: 29130442 [PubMed - in process]



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Is the Device-Oriented Subjective Outcome (DOSO) Independent of Personality?

Related Articles

Is the Device-Oriented Subjective Outcome (DOSO) Independent of Personality?

J Am Acad Audiol. 2017 Nov/Dec;28(10):932-940

Authors: Wu YH, Dumanch K, Stangl E, Miller C, Tremblay K, Bentler R

Abstract
BACKGROUND: Self-report questionnaires are a frequently used method of evaluating hearing aid outcomes. Studies have shown that personality can account for 5-20% of the variance in response to self-report measures. As a result, these influences can impact results and limit their generalizability when the purpose of the study is to examine the technological merit of hearing aids. To reduce personality influences on self-report outcome data, the Device-Oriented Subjective Outcome (DOSO) was developed. The DOSO is meant to demonstrate outcomes of the amplification device relatively independent of the individual's personality. Still, it is unknown if the DOSO achieves its original goal.
PURPOSE: The purpose of this study was to examine the relationship between personality and the DOSO. The relationship between personality and several widely used hearing-related questionnaires was also examined.
RESEARCH DESIGN: This is a nonexperimental study using a correlational design.
STUDY SAMPLE: A total of 119 adult hearing aid wearers participated in the study.
DATA COLLECTION AND ANALYSIS: The NEO Five-Factor Inventory was used to measure five personality traits (Neuroticism, Extraversion, Openness, Agreeableness, and Conscientiousness). The initial (unaided) hearing disablement, residual (aided) hearing disablement, and hearing aid benefit and satisfaction was measured using the DOSO, Hearing Handicap Inventory for the Elderly/Adult, Abbreviated Profile of Hearing Aid Benefit, and Satisfaction with Amplification in Daily Life. The relationship between personality and each questionnaire was examined using a correlation analysis.
RESULTS: All of the DOSO subscales were found to be significantly correlated to personality, regardless of whether age and better-ear hearing thresholds were controlled. Individuals who reported poorer hearing aid outcomes tended to have higher Neuroticism scores, while those who scored higher in Extraversion, Openness, and Agreeableness were more likely to report better outcomes. Across DOSO subscales, the maximum variance explained by personality traits ranged from 6% to 11%. Consistent with the literature, ∼3-18% of the variance of other hearing-related questionnaires was attributable to personality.
CONCLUSIONS: The degree to which personality affects the DOSO is similar to other hearing-related questionnaires. Although the variance accounted for by personality is not large, researchers and clinicians should not assume that the results of the DOSO are independent of personality.

PMID: 29130441 [PubMed - in process]



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Development and Pilot Evaluation of a Novel Theory-Based Intervention to Encourage Help-Seeking for Adult Hearing Loss.

Related Articles

Development and Pilot Evaluation of a Novel Theory-Based Intervention to Encourage Help-Seeking for Adult Hearing Loss.

J Am Acad Audiol. 2017 Nov/Dec;28(10):920-931

Authors: Saunders GH, Frederick MT, Silverman SC, Nielsen C, Laplante-Lévesque A

Abstract
BACKGROUND: Health behavior theories can provide an understanding of hearing health behaviors and, more importantly, can be used to develop theoretically based strategies to change these health behaviors.
PURPOSE: To develop a theory-based brief intervention to increase help-seeking for adult hearing loss and to conduct a pilot study to evaluate its feasibility, effectiveness, and impact on hearing beliefs and behaviors.
RESEARCH DESIGN: An intervention was designed that could be easily administered by a health-care provider who does not have expertise in audiology-such as a primary care physician, community nurse, or social worker. The intervention aims to alter perceived benefit, severity, cues to action, and self-efficacy for seeking help by providing experiential/affective messaging and simultaneously providing intrinsic motivation for the recipient to seek hearing help. To first determine whether this intervention changed beliefs and increased help-seeking behavior, this study was conducted in a hearing research laboratory setting.
STUDY SAMPLE: A total of 101 adults aged 50-89 yr were recruited within 6 months of having attended an appointment at a primary care clinic at the VA Portland Health Care System. All were sent a letter inviting them to participate in a study if they had trouble with their hearing but had not had a scheduled hearing test or worn hearing aids in the prior 5 yr and also had functional oral and written English. Data from 87 individuals were available for analysis.
INTERVENTION: The intervention is designed for use in any health-care setting in which a health-care provider can facilitate a conversation about hearing. On arrival at a health-care facility, recipients are provided with nine emotionally evocative color photographs to prompt reflection on ways in which hearing difficulties impact them. A discussion with a health-care provider (facilitator) follows, during which recipients may identify the negative impacts of their hearing loss. If the recipient identifies negative impacts, the facilitator suggests that he or she consider having a hearing test and provides a list of local hearing-health professionals.
DATA COLLECTION AND ANALYSIS: Participants completed baseline questionnaires assessing hearing beliefs and attitudes. They were then randomly assigned either to the group receiving the study intervention or to a control group. Six months after study enrollment, participants reported whether they had sought help for their hearing and completed a second set of questionnaires.
RESULTS: Twelve of 41 individuals (29.3%) in the intervention group and 7 of 46 individuals (15.2%) in the control group sought help within the 6-month follow-up period. A χ² test showed these numbers did not differ significantly; however, the odds ratio of having had a hearing test were 2.3 times greater for those who received the intervention than for those who did not.
CONCLUSIONS: Despite not reaching statistical significance, the odds ratio suggests that the theory-based brief intervention is worthy of additional examination. We intend to work with health-care providers to conduct a larger study to investigate whether the intervention has value in the real world.

PMID: 29130440 [PubMed - in process]



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Cochlear Implantation in Children with Postlingual Progressive Steeply Sloping High-Frequency Hearing Loss.

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Cochlear Implantation in Children with Postlingual Progressive Steeply Sloping High-Frequency Hearing Loss.

J Am Acad Audiol. 2017 Nov/Dec;28(10):913-919

Authors: Meredith MA, Rubinstein JT, Sie KCY, Norton SJ

Abstract
BACKGROUND: Children with steeply sloping sensorineural hearing loss (SNHL) lack access to critical high-frequency cues despite the use of advanced hearing aid technology. In addition, their auditory-only aided speech perception abilities often meet Food and Drug Administration criteria for cochlear implantation.
PURPOSE: The objective of this study was to describe hearing preservation and speech perception outcomes in a group of young children with steeply sloping SNHL who received a cochlear implant (CI).
RESEARCH DESIGN: Retrospective case series.
STUDY SAMPLE: Eight children with steeply sloping postlingual progressive SNHL who received a unilateral traditional CI at Seattle Children's Hospital between 2009 and 2013 and had follow-up data available up to 24 mo postimplant were included.
DATA COLLECTION AND ANALYSIS: A retrospective chart review was completed. Medical records were reviewed for demographic information, preoperative and postoperative behavioral hearing thresholds, and speech perception scores. Paired t tests were used to analyze speech perception data. Hearing preservation results are reported.
RESULTS: Rapid improvement of speech perception scores was observed within the first month postimplant for all participants. Mean monosyllabic word scores were 76% and mean phoneme scores were 86.7% at 1-mo postactivation compared to mean preimplant scores of 19.5% and 31.0%, respectively. Hearing preservation was observed in five participants out to 24-mo postactivation. Two participants lost hearing in both the implanted and unimplanted ear, and received a sequential bilateral CI in the other ear after progression of the hearing loss. One participant had a total loss of hearing in only the implanted ear. Results reported in this article are from the ear implanted first. Bilateral outcomes are not reported.
CONCLUSIONS: CIs provided benefit for children with steeply sloping bilateral hearing loss for whom hearing aids did not provide adequate auditory access. In our cohort, significant improvements in speech understanding occurred rapidly postactivation. Preservation of residual hearing in children with a traditional CI electrode is possible.

PMID: 29130439 [PubMed - in process]



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Segmental and Suprasegmental Perception in Children Using Hearing Aids.

Related Articles

Segmental and Suprasegmental Perception in Children Using Hearing Aids.

J Am Acad Audiol. 2017 Nov/Dec;28(10):901-912

Authors: Wenrich KA, Davidson LS, Uchanski RM

Abstract
BACKGROUND: Suprasegmental perception (perception of stress, intonation, "how something is said" and "who says it") and segmental speech perception (perception of individual phonemes or perception of "what is said") are perceptual abilities that provide the foundation for the development of spoken language and effective communication. While there are numerous studies examining segmental perception in children with hearing aids (HAs), there are far fewer studies examining suprasegmental perception, especially for children with greater degrees of residual hearing. Examining the relation between acoustic hearing thresholds, and both segmental and suprasegmental perception for children with HAs, may ultimately enable better device recommendations (bilateral HAs, bimodal devices [one CI and one HA in opposite ears], bilateral CIs) for a particular degree of residual hearing. Examining both types of speech perception is important because segmental and suprasegmental cues are affected differentially by the type of hearing device(s) used (i.e., cochlear implant [CI] and/or HA). Additionally, suprathreshold measures, such as frequency resolution ability, may partially predict benefit from amplification and may assist audiologists in making hearing device recommendations.
PURPOSE: The purpose of this study is to explore the relationship between audibility (via hearing thresholds and speech intelligibility indices), and segmental and suprasegmental speech perception for children with HAs. A secondary goal is to explore the relationships among frequency resolution ability (via spectral modulation detection [SMD] measures), segmental and suprasegmental speech perception, and receptive language in these same children.
RESEARCH DESIGN: A prospective cross-sectional design.
STUDY SAMPLE: Twenty-three children, ages 4 yr 11 mo to 11 yr 11 mo, participated in the study. Participants were recruited from pediatric clinic populations, oral schools for the deaf, and mainstream schools.
DATA COLLECTION AND ANALYSIS: Audiological history and hearing device information were collected from participants and their families. Segmental and suprasegmental speech perception, SMD, and receptive vocabulary skills were assessed. Correlations were calculated to examine the significance (p < 0.05) of relations between audibility and outcome measures.
RESULTS: Measures of audibility and segmental speech perception are not significantly correlated, while low-frequency pure-tone average (unaided) is significantly correlated with suprasegmental speech perception. SMD is significantly correlated with all measures (measures of audibility, segmental and suprasegmental perception and vocabulary). Lastly, although age is not significantly correlated with measures of audibility, it is significantly correlated with all other outcome measures.
CONCLUSIONS: The absence of a significant correlation between audibility and segmental speech perception might be attributed to overall audibility being maximized through well-fit HAs. The significant correlation between low-frequency unaided audibility and suprasegmental measures is likely due to the strong, predominantly low-frequency nature of suprasegmental acoustic properties. Frequency resolution ability, via SMD performance, is significantly correlated with all outcomes and requires further investigation; its significant correlation with vocabulary suggests that linguistic ability may be partially related to frequency resolution ability. Last, all of the outcome measures are significantly correlated with age, suggestive of developmental effects.

PMID: 29130438 [PubMed - in process]



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Remote Hearing Aid Support: The Next Frontier.

Related Articles

Remote Hearing Aid Support: The Next Frontier.

J Am Acad Audiol. 2017 Nov/Dec;28(10):893-900

Authors: Angley GP, Schnittker JA, Tharpe AM

Abstract
BACKGROUND: In an effort to reduce health-care disparities, there has been a recent surge of interest in the remote provision of care. Audiologists have begun to provide screening, diagnostic, and rehabilitative services via telehealth technologies.
PURPOSE: To evaluate the feasibility and perceived benefits of providing remote hearing aid follow-up appointments in a controlled clinical environment and in participants' homes.
RESEARCH DESIGN: A descriptive quasi-experimental study was completed.
STUDY SAMPLE: The study consisted of two phases. The in-clinic phase included 50 adults with hearing loss who participated in remote hearing aid follow-up appointments at Vanderbilt University Medical Center. A subgroup of 21 adults from the original in-clinic phase plus one additional participant completed the in-home appointments.
DATA COLLECTION AND ANALYSIS: All participants completed the Montreal Cognitive Assessment and study-designed questionnaires. All participants were asked to install proprietary distance support (DS) client software on a laptop or desktop computer and participate in hearing aid follow-up appointments.
RESULTS: The majority of participants in both groups installed the DS client software with no assistance other than written instructions, and indicated a preference for DS appointments over face-to-face appointments.
CONCLUSION: On average, participants and the study audiologist were satisfied with remote hearing aid follow-up visits. Additional support might be needed for older patients with little confidence in their ability to interact with technology.

PMID: 29130437 [PubMed - in process]



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Hearing Technology Use and Management in School-Age Children: Reports from Data Logs, Parents, and Teachers.

Related Articles

Hearing Technology Use and Management in School-Age Children: Reports from Data Logs, Parents, and Teachers.

J Am Acad Audiol. 2017 Nov/Dec;28(10):883-892

Authors: Gustafson SJ, Ricketts TA, Tharpe AM

Abstract
BACKGROUND: Consistency of hearing aid and remote microphone system use declines as school-age children with hearing loss age. One indicator of hearing aid use time is data logging, another is parent report. Recent data suggest that parents overestimate their children's hearing aid use time relative to data logging. The potential reasons for this disparity remain unclear. Because school-age children spend the majority of their day away from their parents and with their teachers, reports from teachers might serve as a valuable and additional tool for estimating hearing aid use time and management.
PURPOSE: This study expands previous research on factors influencing hearing aid use time in school-age children using data logging records. Discrepancies between data logging records and parent reports were explored using custom surveys designed for parents and teachers. Responses from parents and teachers were used to examine hearing aid use, remote microphone system use, and hearing aid management in school-age children.
STUDY SAMPLE: Thirteen children with mild-to-moderate hearing loss between the ages of 7 and 10 yr and their parents participated in this study. Teachers of ten of these children also participated.
DATA COLLECTION AND ANALYSIS: Parents and teachers of children completed written surveys about each child's hearing aid use, remote microphone system use, and hearing aid management skills. Data logs were read from hearing aids using manufacturer's software. Multiple linear regression analysis and an intraclass correlation coefficient were used to examine factors influencing hearing aid use time and parent agreement with data logs. Parent report of hearing aid use time was compared across various activities and school and nonschool days. Survey responses from parents and teachers were compared to explore areas requiring potential improvement in audiological counseling.
RESULTS: Average daily hearing aid use time was ∼6 hr per day as recorded with data logging technology. Children exhibiting greater degrees of hearing loss and those with poorer vocabulary were more likely to use hearing aids consistently than children with less hearing loss and better vocabulary. Parents overestimated hearing aid use by ∼1 hr per day relative to data logging records. Parent-reported use of hearing aids varied across activities but not across school and nonschool days. Overall, parents and teachers showed excellent agreement on hearing aid and remote microphone system use during school instruction but poor agreement when asked about the child's ability to manage their hearing devices independently.
CONCLUSIONS: Parental reports of hearing aid use in young school-age children are largely consistent with data logging records and with teacher reports of hearing aid use in the classroom. Audiologists might find teacher reports helpful in learning more about children's hearing aid management and remote microphone system use during their time at school. This supplementary information can serve as an additional counseling tool to facilitate discussion about remote microphone system use and hearing aid management in school-age children with hearing loss.

PMID: 29130436 [PubMed - in process]



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Remote Hearing Healthcare.

Related Articles

Remote Hearing Healthcare.

J Am Acad Audiol. 2017 Nov/Dec;28(10):882

Authors: McCaslin DL

PMID: 29130435 [PubMed - in process]



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Erratum.

Related Articles

Erratum.

J Am Acad Audiol. 2017 Nov/Dec;28(10):961

Authors:

Abstract
[This corrects the article DOI: 10.3766/jaaa.15105.].

PMID: 29130444 [PubMed - in process]



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Unraveling the Mystery of Auditory Brainstem Response Corrections: The Need for Universal Standards.

Related Articles

Unraveling the Mystery of Auditory Brainstem Response Corrections: The Need for Universal Standards.

J Am Acad Audiol. 2017 Nov/Dec;28(10):950-960

Authors: Norrix LW, Velenovsky D

Abstract
BACKGROUND: The auditory brainstem response (ABR) is used to estimate behavioral hearing thresholds in infants and difficult-to-test populations. Differences between the toneburst ABR and behavioral thresholds exist making the correspondence between the two measures less than perfect. Some authors have suggested that corrections be applied to ABR thresholds to account for these differences. However, because there is no agreed upon universal standard, confusion regarding the use of corrections exists.
PURPOSE: The primary purpose of this article is to review the reasoning behind and use of corrections when the toneburst ABR is employed to estimate behavioral hearing thresholds. We also discuss other considerations that all audiologists should be aware of when obtaining and reporting ABR test results.
RESULTS: A review of the purpose and use of corrections reveals no consensus as to whether they should be applied or which should be used. Additionally, when ABR results are adjusted, there is no agreement as to whether additional corrections for hearing loss or the age of the client are necessary. This lack of consensus can be confusing for all individuals working with hearing-impaired children and their families.
CONCLUSIONS: Toneburst ABR thresholds do not perfectly align with behavioral hearing thresholds. Universal protocols for the use of corrections are needed. Additionally, evidence-based procedures must be employed to obtain valid ABRs that will accurately estimate hearing thresholds.

PMID: 29130443 [PubMed - in process]



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Outcomes of Hearing Aid Use by Individuals with Unilateral Sensorineural Hearing Loss (USNHL).

Related Articles

Outcomes of Hearing Aid Use by Individuals with Unilateral Sensorineural Hearing Loss (USNHL).

J Am Acad Audiol. 2017 Nov/Dec;28(10):941-949

Authors: Bishop CE, Hamadain E, Galster JA, Johnson MF, Spankovich C, Windmill I

Abstract
BACKGROUND: Unilateral sensorineural hearing loss (USNHL) can have a negative impact on functions associated with the advantages of balanced, binaural hearing. Although single-sided deafness, which is a complete loss of audibility in one ear, has gained increased interest in the published research, there is a gap in the literature concerning hearing aid outcomes for individuals with residual, or otherwise "aidable," hearing in the affected ear.
PURPOSE: To assess hearing aid outcomes for a group of individuals with USNHL with residual, aidable function.
RESEARCH DESIGN: A quasi-experimental study of hearing aid outcomes with paired comparisons made between unaided and aided test conditions.
STUDY SAMPLE: A convenience sample of twenty-two individuals with USNHL, with sufficient residual hearing in the affected ear as to receive audibility from use of a hearing aid, were recruited into the study from September 2011 to August 2012.
INTERVENTION: Each participant was fit with a digital behind-the-ear hearing aid coupled to a custom ear mold.
DATA COLLECTION AND ANALYSIS: Assessments were performed at baseline (unaided) and after a three-month field trial (aided) with primary outcomes involving objective measures in sound field yielding signal-to-noise ratio loss (SNR Loss) via the Quick Speech-in-Noise Test and word recognition scores (WRS) via the Northwestern University Auditory Test, No. 6. Outcomes also involved the administration of two well-established subjective benefit questionnaires: The Abbreviated Profile of Hearing Aid Benefit (APHAB) and the 49-item Speech, Spatial, and Qualities of Hearing Scale (SSQ49).
RESULTS: As a group, participants showed significantly improved median SNR Loss thresholds when aided in a test condition that included spatial separation of speech and noise, with speech stimuli directed toward the worse ear and noise stimuli directed toward the better ear (diff. = -4.5; p < 0.001). Hearing aid use had a small, though statistically significant, negative impact on median SNR Loss thresholds, when speech and noise stimuli originated from the same 0° azimuth (diff. = 1.0; p = 0.018). This was also evidenced by the median WRS in sound field (diff. = -6.0; p = 0.006), which was lowered from 98% in the unaided state to 92% in the aided state. Results from the SSQ49 showed statistically significant improvement on all subsection means when participants were aided (p < 0.05), whereas results from the APHAB were generally found to be unremarkable between unaided and aided conditions as benefit was essentially equal to the 50th percentile of the normative data. At the close of the study, it was observed that only slightly more than half of all participants chose to continue use of a hearing aid after their participation.
CONCLUSIONS: We observed that hearing aid use by individuals with USNHL can improve the SNR Loss associated with the interference of background noise, especially in situations when there is spatial separation of the stimuli and speech is directed toward the affected ear. In addition, hearing aid use by these individuals can provide subjective benefit, as evidenced by the APHAB and SSQ49 subjective benefit questionnaires.

PMID: 29130442 [PubMed - in process]



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Is the Device-Oriented Subjective Outcome (DOSO) Independent of Personality?

Related Articles

Is the Device-Oriented Subjective Outcome (DOSO) Independent of Personality?

J Am Acad Audiol. 2017 Nov/Dec;28(10):932-940

Authors: Wu YH, Dumanch K, Stangl E, Miller C, Tremblay K, Bentler R

Abstract
BACKGROUND: Self-report questionnaires are a frequently used method of evaluating hearing aid outcomes. Studies have shown that personality can account for 5-20% of the variance in response to self-report measures. As a result, these influences can impact results and limit their generalizability when the purpose of the study is to examine the technological merit of hearing aids. To reduce personality influences on self-report outcome data, the Device-Oriented Subjective Outcome (DOSO) was developed. The DOSO is meant to demonstrate outcomes of the amplification device relatively independent of the individual's personality. Still, it is unknown if the DOSO achieves its original goal.
PURPOSE: The purpose of this study was to examine the relationship between personality and the DOSO. The relationship between personality and several widely used hearing-related questionnaires was also examined.
RESEARCH DESIGN: This is a nonexperimental study using a correlational design.
STUDY SAMPLE: A total of 119 adult hearing aid wearers participated in the study.
DATA COLLECTION AND ANALYSIS: The NEO Five-Factor Inventory was used to measure five personality traits (Neuroticism, Extraversion, Openness, Agreeableness, and Conscientiousness). The initial (unaided) hearing disablement, residual (aided) hearing disablement, and hearing aid benefit and satisfaction was measured using the DOSO, Hearing Handicap Inventory for the Elderly/Adult, Abbreviated Profile of Hearing Aid Benefit, and Satisfaction with Amplification in Daily Life. The relationship between personality and each questionnaire was examined using a correlation analysis.
RESULTS: All of the DOSO subscales were found to be significantly correlated to personality, regardless of whether age and better-ear hearing thresholds were controlled. Individuals who reported poorer hearing aid outcomes tended to have higher Neuroticism scores, while those who scored higher in Extraversion, Openness, and Agreeableness were more likely to report better outcomes. Across DOSO subscales, the maximum variance explained by personality traits ranged from 6% to 11%. Consistent with the literature, ∼3-18% of the variance of other hearing-related questionnaires was attributable to personality.
CONCLUSIONS: The degree to which personality affects the DOSO is similar to other hearing-related questionnaires. Although the variance accounted for by personality is not large, researchers and clinicians should not assume that the results of the DOSO are independent of personality.

PMID: 29130441 [PubMed - in process]



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Development and Pilot Evaluation of a Novel Theory-Based Intervention to Encourage Help-Seeking for Adult Hearing Loss.

Related Articles

Development and Pilot Evaluation of a Novel Theory-Based Intervention to Encourage Help-Seeking for Adult Hearing Loss.

J Am Acad Audiol. 2017 Nov/Dec;28(10):920-931

Authors: Saunders GH, Frederick MT, Silverman SC, Nielsen C, Laplante-Lévesque A

Abstract
BACKGROUND: Health behavior theories can provide an understanding of hearing health behaviors and, more importantly, can be used to develop theoretically based strategies to change these health behaviors.
PURPOSE: To develop a theory-based brief intervention to increase help-seeking for adult hearing loss and to conduct a pilot study to evaluate its feasibility, effectiveness, and impact on hearing beliefs and behaviors.
RESEARCH DESIGN: An intervention was designed that could be easily administered by a health-care provider who does not have expertise in audiology-such as a primary care physician, community nurse, or social worker. The intervention aims to alter perceived benefit, severity, cues to action, and self-efficacy for seeking help by providing experiential/affective messaging and simultaneously providing intrinsic motivation for the recipient to seek hearing help. To first determine whether this intervention changed beliefs and increased help-seeking behavior, this study was conducted in a hearing research laboratory setting.
STUDY SAMPLE: A total of 101 adults aged 50-89 yr were recruited within 6 months of having attended an appointment at a primary care clinic at the VA Portland Health Care System. All were sent a letter inviting them to participate in a study if they had trouble with their hearing but had not had a scheduled hearing test or worn hearing aids in the prior 5 yr and also had functional oral and written English. Data from 87 individuals were available for analysis.
INTERVENTION: The intervention is designed for use in any health-care setting in which a health-care provider can facilitate a conversation about hearing. On arrival at a health-care facility, recipients are provided with nine emotionally evocative color photographs to prompt reflection on ways in which hearing difficulties impact them. A discussion with a health-care provider (facilitator) follows, during which recipients may identify the negative impacts of their hearing loss. If the recipient identifies negative impacts, the facilitator suggests that he or she consider having a hearing test and provides a list of local hearing-health professionals.
DATA COLLECTION AND ANALYSIS: Participants completed baseline questionnaires assessing hearing beliefs and attitudes. They were then randomly assigned either to the group receiving the study intervention or to a control group. Six months after study enrollment, participants reported whether they had sought help for their hearing and completed a second set of questionnaires.
RESULTS: Twelve of 41 individuals (29.3%) in the intervention group and 7 of 46 individuals (15.2%) in the control group sought help within the 6-month follow-up period. A χ² test showed these numbers did not differ significantly; however, the odds ratio of having had a hearing test were 2.3 times greater for those who received the intervention than for those who did not.
CONCLUSIONS: Despite not reaching statistical significance, the odds ratio suggests that the theory-based brief intervention is worthy of additional examination. We intend to work with health-care providers to conduct a larger study to investigate whether the intervention has value in the real world.

PMID: 29130440 [PubMed - in process]



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Cochlear Implantation in Children with Postlingual Progressive Steeply Sloping High-Frequency Hearing Loss.

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Cochlear Implantation in Children with Postlingual Progressive Steeply Sloping High-Frequency Hearing Loss.

J Am Acad Audiol. 2017 Nov/Dec;28(10):913-919

Authors: Meredith MA, Rubinstein JT, Sie KCY, Norton SJ

Abstract
BACKGROUND: Children with steeply sloping sensorineural hearing loss (SNHL) lack access to critical high-frequency cues despite the use of advanced hearing aid technology. In addition, their auditory-only aided speech perception abilities often meet Food and Drug Administration criteria for cochlear implantation.
PURPOSE: The objective of this study was to describe hearing preservation and speech perception outcomes in a group of young children with steeply sloping SNHL who received a cochlear implant (CI).
RESEARCH DESIGN: Retrospective case series.
STUDY SAMPLE: Eight children with steeply sloping postlingual progressive SNHL who received a unilateral traditional CI at Seattle Children's Hospital between 2009 and 2013 and had follow-up data available up to 24 mo postimplant were included.
DATA COLLECTION AND ANALYSIS: A retrospective chart review was completed. Medical records were reviewed for demographic information, preoperative and postoperative behavioral hearing thresholds, and speech perception scores. Paired t tests were used to analyze speech perception data. Hearing preservation results are reported.
RESULTS: Rapid improvement of speech perception scores was observed within the first month postimplant for all participants. Mean monosyllabic word scores were 76% and mean phoneme scores were 86.7% at 1-mo postactivation compared to mean preimplant scores of 19.5% and 31.0%, respectively. Hearing preservation was observed in five participants out to 24-mo postactivation. Two participants lost hearing in both the implanted and unimplanted ear, and received a sequential bilateral CI in the other ear after progression of the hearing loss. One participant had a total loss of hearing in only the implanted ear. Results reported in this article are from the ear implanted first. Bilateral outcomes are not reported.
CONCLUSIONS: CIs provided benefit for children with steeply sloping bilateral hearing loss for whom hearing aids did not provide adequate auditory access. In our cohort, significant improvements in speech understanding occurred rapidly postactivation. Preservation of residual hearing in children with a traditional CI electrode is possible.

PMID: 29130439 [PubMed - in process]



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Segmental and Suprasegmental Perception in Children Using Hearing Aids.

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Segmental and Suprasegmental Perception in Children Using Hearing Aids.

J Am Acad Audiol. 2017 Nov/Dec;28(10):901-912

Authors: Wenrich KA, Davidson LS, Uchanski RM

Abstract
BACKGROUND: Suprasegmental perception (perception of stress, intonation, "how something is said" and "who says it") and segmental speech perception (perception of individual phonemes or perception of "what is said") are perceptual abilities that provide the foundation for the development of spoken language and effective communication. While there are numerous studies examining segmental perception in children with hearing aids (HAs), there are far fewer studies examining suprasegmental perception, especially for children with greater degrees of residual hearing. Examining the relation between acoustic hearing thresholds, and both segmental and suprasegmental perception for children with HAs, may ultimately enable better device recommendations (bilateral HAs, bimodal devices [one CI and one HA in opposite ears], bilateral CIs) for a particular degree of residual hearing. Examining both types of speech perception is important because segmental and suprasegmental cues are affected differentially by the type of hearing device(s) used (i.e., cochlear implant [CI] and/or HA). Additionally, suprathreshold measures, such as frequency resolution ability, may partially predict benefit from amplification and may assist audiologists in making hearing device recommendations.
PURPOSE: The purpose of this study is to explore the relationship between audibility (via hearing thresholds and speech intelligibility indices), and segmental and suprasegmental speech perception for children with HAs. A secondary goal is to explore the relationships among frequency resolution ability (via spectral modulation detection [SMD] measures), segmental and suprasegmental speech perception, and receptive language in these same children.
RESEARCH DESIGN: A prospective cross-sectional design.
STUDY SAMPLE: Twenty-three children, ages 4 yr 11 mo to 11 yr 11 mo, participated in the study. Participants were recruited from pediatric clinic populations, oral schools for the deaf, and mainstream schools.
DATA COLLECTION AND ANALYSIS: Audiological history and hearing device information were collected from participants and their families. Segmental and suprasegmental speech perception, SMD, and receptive vocabulary skills were assessed. Correlations were calculated to examine the significance (p < 0.05) of relations between audibility and outcome measures.
RESULTS: Measures of audibility and segmental speech perception are not significantly correlated, while low-frequency pure-tone average (unaided) is significantly correlated with suprasegmental speech perception. SMD is significantly correlated with all measures (measures of audibility, segmental and suprasegmental perception and vocabulary). Lastly, although age is not significantly correlated with measures of audibility, it is significantly correlated with all other outcome measures.
CONCLUSIONS: The absence of a significant correlation between audibility and segmental speech perception might be attributed to overall audibility being maximized through well-fit HAs. The significant correlation between low-frequency unaided audibility and suprasegmental measures is likely due to the strong, predominantly low-frequency nature of suprasegmental acoustic properties. Frequency resolution ability, via SMD performance, is significantly correlated with all outcomes and requires further investigation; its significant correlation with vocabulary suggests that linguistic ability may be partially related to frequency resolution ability. Last, all of the outcome measures are significantly correlated with age, suggestive of developmental effects.

PMID: 29130438 [PubMed - in process]



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Remote Hearing Aid Support: The Next Frontier.

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Remote Hearing Aid Support: The Next Frontier.

J Am Acad Audiol. 2017 Nov/Dec;28(10):893-900

Authors: Angley GP, Schnittker JA, Tharpe AM

Abstract
BACKGROUND: In an effort to reduce health-care disparities, there has been a recent surge of interest in the remote provision of care. Audiologists have begun to provide screening, diagnostic, and rehabilitative services via telehealth technologies.
PURPOSE: To evaluate the feasibility and perceived benefits of providing remote hearing aid follow-up appointments in a controlled clinical environment and in participants' homes.
RESEARCH DESIGN: A descriptive quasi-experimental study was completed.
STUDY SAMPLE: The study consisted of two phases. The in-clinic phase included 50 adults with hearing loss who participated in remote hearing aid follow-up appointments at Vanderbilt University Medical Center. A subgroup of 21 adults from the original in-clinic phase plus one additional participant completed the in-home appointments.
DATA COLLECTION AND ANALYSIS: All participants completed the Montreal Cognitive Assessment and study-designed questionnaires. All participants were asked to install proprietary distance support (DS) client software on a laptop or desktop computer and participate in hearing aid follow-up appointments.
RESULTS: The majority of participants in both groups installed the DS client software with no assistance other than written instructions, and indicated a preference for DS appointments over face-to-face appointments.
CONCLUSION: On average, participants and the study audiologist were satisfied with remote hearing aid follow-up visits. Additional support might be needed for older patients with little confidence in their ability to interact with technology.

PMID: 29130437 [PubMed - in process]



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Hearing Technology Use and Management in School-Age Children: Reports from Data Logs, Parents, and Teachers.

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Hearing Technology Use and Management in School-Age Children: Reports from Data Logs, Parents, and Teachers.

J Am Acad Audiol. 2017 Nov/Dec;28(10):883-892

Authors: Gustafson SJ, Ricketts TA, Tharpe AM

Abstract
BACKGROUND: Consistency of hearing aid and remote microphone system use declines as school-age children with hearing loss age. One indicator of hearing aid use time is data logging, another is parent report. Recent data suggest that parents overestimate their children's hearing aid use time relative to data logging. The potential reasons for this disparity remain unclear. Because school-age children spend the majority of their day away from their parents and with their teachers, reports from teachers might serve as a valuable and additional tool for estimating hearing aid use time and management.
PURPOSE: This study expands previous research on factors influencing hearing aid use time in school-age children using data logging records. Discrepancies between data logging records and parent reports were explored using custom surveys designed for parents and teachers. Responses from parents and teachers were used to examine hearing aid use, remote microphone system use, and hearing aid management in school-age children.
STUDY SAMPLE: Thirteen children with mild-to-moderate hearing loss between the ages of 7 and 10 yr and their parents participated in this study. Teachers of ten of these children also participated.
DATA COLLECTION AND ANALYSIS: Parents and teachers of children completed written surveys about each child's hearing aid use, remote microphone system use, and hearing aid management skills. Data logs were read from hearing aids using manufacturer's software. Multiple linear regression analysis and an intraclass correlation coefficient were used to examine factors influencing hearing aid use time and parent agreement with data logs. Parent report of hearing aid use time was compared across various activities and school and nonschool days. Survey responses from parents and teachers were compared to explore areas requiring potential improvement in audiological counseling.
RESULTS: Average daily hearing aid use time was ∼6 hr per day as recorded with data logging technology. Children exhibiting greater degrees of hearing loss and those with poorer vocabulary were more likely to use hearing aids consistently than children with less hearing loss and better vocabulary. Parents overestimated hearing aid use by ∼1 hr per day relative to data logging records. Parent-reported use of hearing aids varied across activities but not across school and nonschool days. Overall, parents and teachers showed excellent agreement on hearing aid and remote microphone system use during school instruction but poor agreement when asked about the child's ability to manage their hearing devices independently.
CONCLUSIONS: Parental reports of hearing aid use in young school-age children are largely consistent with data logging records and with teacher reports of hearing aid use in the classroom. Audiologists might find teacher reports helpful in learning more about children's hearing aid management and remote microphone system use during their time at school. This supplementary information can serve as an additional counseling tool to facilitate discussion about remote microphone system use and hearing aid management in school-age children with hearing loss.

PMID: 29130436 [PubMed - in process]



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Remote Hearing Healthcare.

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Remote Hearing Healthcare.

J Am Acad Audiol. 2017 Nov/Dec;28(10):882

Authors: McCaslin DL

PMID: 29130435 [PubMed - in process]



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Relationship between radiographic patella-alta pathology and walking dysfunction in children with bilateral spastic Cerebral Palsy

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Publication date: February 2018
Source:Gait & Posture, Volume 60
Author(s): Matthias Hösl, Harald Böhm, Michaela Seltmann, Chakravarthy Ugandhar Dussa, Leonhard Döderlein
BackgroundPatella-alta is very common in patients with Cerebral Palsy (CP). While several diagnostic x-ray indices have been developed for patella-alta in general, the specific relationship with walking dysfunction in CP is only partly understood.Methods33 participants with bilateral spastic CP between 4 and 20 years (GMFCS I–II without previous surgery) that underwent 3D gait analysis as well as a radiographic exam within 0.8 (SD 1.2) months were retrospectively included. The Caton-Deschamps, the Insall-Salvati and the Koshino-Index, as well as the moment-arms of the quadriceps, the pattelar-tendon length and patellar tilt angle were analyzed from x-rays. During gait, tempo-spatial parameters, the knee flexion kinematics, the knee moments and the moment impulse were calculated and correlated to x-ray parameters.ResultsSmaller quadriceps moment-arms were related to slower walking speed (r=0.48, P=0.005) and less knee extension during stance (r=0.68 P<0.001). Smaller quadriceps moment arms and longer patellar-tendons were also significantly related to a larger knee flexion moment impulse in the second half of the stance phase (r=−0.36, P=0.045 and r=0.39, P=0.028) and hence to more abnormal knee loads. Yet, none of the traditional indices was related to any parameter of gait.InterpretationTraditional radiographic indices for patella-alta possess little to no informative value for walking dysfunction in individuals with CP suspected to have knee pathology. Smaller moment-arms are a key feature of patellofemoral pathology in CP reducing the knee extensor mechanism, an aspect which is not sufficiently picked up by traditional indices.



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J. Gail Neely, M.D.: Obituary

imageNo abstract available

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The Growing—and Now Alarming—Burden of Hearing Loss Worldwide

No abstract available

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Letter to the Editor: Regarding Deep N, Besch-Stokes J, Lane J, Driscoll C, Carlson M, “Paget's Disease of the Temporal Bone: A Single-Institution Contemporary Review of 27 Patients”

No abstract available

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Implantable Hearing Devices. Chris de Souza, Peter Roland, Debara L. Tucci, ed.; San Diego, CA: Plural Publishing Inc., 2017

No abstract available

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High Incidence of Bell's Palsy After Mastoidectomy: A Longitudinal Follow-up Study

imageObjective: The objective of this study was to compare the prevalence of Bell's palsy in participants who underwent mastoidectomy (to treat chronic otitis media) and nonmastoidectomy participants (control). Methods: Using the national cohort study from the Korean Health Insurance Review and Assessment Service, mastoidectomy patients (2,045) and control participants (8,180) were matched 1:4 for age, sex, income, and region of residence. The prevalence of Bell's palsy in both the groups was measured from 0 to 10 years postoperation. Results: In a sample of 1,025,340 Korean individuals, 7,070 were diagnosed or treated with Bell's palsy between 2002 and 2013; the annual incidence of Bell's palsy was 0.057%. The overall prevalence of Bell's palsy was three times higher in the mastoidectomy group (1.27%) than control group (0.49%) (p 

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Management of Sigmoid Sinus Associated Pulsatile Tinnitus: A Systematic Review of the Literature

imageObjectives: Although studies demonstrate 4 to 20% of patients with pulsatile tinnitus (PT) have associated sigmoid sinus anomalies, no consensus exists regarding optimal management. Our objective was to perform a systematic review exploring surgical and endovascular intervention of PT caused by sigmoid sinus anomalies. Data Sources/Extraction: A systematic review was performed using the Preferred Reporting Systems for Systematic Reviews and Meta-Analysis guidelines for reporting of results, with a target population encompassing patients with PT and either sigmoid sinus diverticulum or sigmoid wall dehiscence. From an initial search yielding 74 articles, 21 manuscripts met inclusion criteria. Data Synthesis: Of 139 patients, 90.4% were female. Mean age was 39.0 years. Diagnosis was sigmoid sinus diverticulum/aneurysm in 47.5% of patients, sigmoid sinus dehiscence in 35.3% of patients, and both in 17.3%. Sigmoid sinus wall reconstruction/resurfacing (SSW R/R) was used in 91.4% and endovascular procedures in 7.9% of patients. Postoperative recurrence was 3.5% (mean follow-up 21.1 m). Although there was no association between resolution rate and age or sex, right-sided PT resolved at a higher rate. For every increase in body mass index by 1 kg/m2, the odds of PT resolution increased 9.2%. Conclusion: PT as a result of sigmoid sinus diverticula, aneurysms, and dehiscence is a rare, but largely treatable condition. Available interventions include SSW R/R, endovascular intervention, and cardiac U-clip techniques. In SSW R/R, bone pate, unspecified soft-tissue graft, and bone cement had the highest rates of PT resolution. While temporalis fascia and autologous bone chips were the materials most commonly used, they had significantly lower rates of PT resolution compared with the other materials, with the exception of auricular cartilage and bone cement. Most episodes of recurrence are resolved with medical management or a revision procedure. This study serves to summarize the current state of knowledge on the treatment of pulsatile tinnitus across disciplines.

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The Role of Auditory Evoked Potentials in the Context of Cochlear Implant Provision

image Auditory evoked potentials (AEP) are highly demanded during the whole process of equipping patients with cochlear implants (CI). They play an essential role in preoperative diagnostics, intraoperative testing, and postoperative monitoring of auditory performance and success. The versatility of AEP's is essentially enhanced by their property to be evokable by acoustic as well as electric stimuli. Thus, the electric responses of the auditory system following acoustic stimulation and recorded by the conventional surface technique as well as by transtympanic derivation from the promontory (Electrocochleography [ECochG]) are used for the quantitative determination of hearing loss and, additionally, electrically evoked compound actions potentials (ECAP) can be recorded with the intracochlear electrodes of the implant just adjacent to the stimulation electrode to check the functional integrity of the device and its coupling to the auditory system. The profile of ECAP thresholds is used as basis for speech processor fitting, the spread of excitation (SOE) allows the identification of electrode mislocations such as array foldover, and recovery functions may serve to optimize stimulus pulse rate. These techniques as well as those relying on scalp surface activity originating in the brainstem or the auditory cortex accompany the CI recipient during its whole life span and they offer valuable insights into functioning and possible adverse effects of the CI for clinical and scientific purposes.

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Do Measurements of Inner Ear Structures Help in the Diagnosis of Inner Ear Malformations? A Review of Literature

imageObjective: We conducted an extensive review of the literature relevant to inner ear measurements in normal and malformative conditions to select reproducible methods and normative ranges that may be used in clinical practice. Data Sources and Study Selection: A review of the published literature was performed in the English language using PubMed with appropriate keywords. We selected only those articles containing normative values of inner ear structures. Data Extraction and Data Synthesis: The following measurements were identified as reproducible and sensitive for the diagnosis of inner malformations: cochlear height in coronal plane; maximal diameter of bony island of lateral semicircular canal; width of vestibular aqueduct: 1) at midpoint; 2) at operculum in axial plane; cochlear canal and cochlear width in multiplanar reconstructions (MPR)/axial; cochlear length. The following cutoffs for normal inner ears are proposed based on the comparative analysis of the literature: cochlea height: >4.3 mm; lateral semicircular canal bony island: >3 mm; vestibular aqueduct: 1.4 mm and 5.4 mm. Conclusion: Measurements of inner ear structures can help in the interpretation of computed tomography images. They increase the sensitivity in detecting inner ear malformations, especially cochlear hypoplasia now considered more common than previously thought.

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Assessing Readability and Reliability of Online Patient Information Regarding Vestibular Schwannoma

imageHypothesis: The aim of this study is to objectively assess the quality and readability of websites related to vestibular schwannomas. Background: Patients are increasingly seeking information on confirmed or suspected diagnoses through the Internet. Clinicians are often concerned regarding the accuracy, quality, and readability of web-based sites. Methods: Online information relating to vestibular schwannoma was searched using the three most popular search engines. The terms “acoustic neuroma” and “vestibular schwannoma” were used. The top 50 results from each site were assessed for readability using the Flesch-Kincaid Grade Level, Flesch Reading Ease Score, and the Gunning-Fog Index. Quality of website information was scored using the DISCERN tool. Results: Of 300 search results analyzed, 58 separate appropriate websites were identified. The mean readability score using Flesch-Kincaid Grade Level was 10.27 (95% confidence interval [CI] 9.84–10.70). The mean Flesch Reading Ease Score was 48.75 (95% CI 46.57–50.92). The Gunning-Fog Index was 13.40 (95% CI 12.92–13.89). These scores equate to someone finishing secondary school/first year university student. DISCERN scores were highly variable but consistently demonstrated great variability in quality of information. Conclusion: Online patient information on vestibular schwannoma is highly variable in quality. Although there are a wide range of different websites easily available to patients on their condition and its treatment options, the information is written at a difficult level which may exceed the understanding level of many patients as it is written at a higher than average level of expected reading ability.

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Effectiveness in Rehabilitation of Current Wireless CROS Technology in Experienced Bone-Anchored Implant Users

imageObjective: To compare the effectiveness of current contralateral routing of signal technology (CROS) to bone-anchored implants in experienced bone-anchored implant users with unilateral severe-profound sensorineural hearing loss. Design: Prospective, within-subject repeated-measures comparison study. Setting: Tertiary referral center. Patients: Adult, English-speaking patients (n = 12) with severe-profound unilateral sensorineural hearing loss implanted with a bone-anchored implant for the indication of single-sided deafness. Intervention: Subjects were fitted with contralateral routing of signal amplification and tested for speech in noise performance and localization error. Outcome Measures: Speech perception in noise was assessed using the BKB-SIN test materials. Localization was assessed using narrow band noises centered at 500 and 4000 Hz, as well as a broadband speech stimulus presented at random to the front hemifield by 19 speakers spatially separated by 10 degrees. Results: There was no improvement in localization ability in the aided condition and no significant difference in performance with CROS versus bone-anchored implants (BAI). There was a significant improvement in speech in noise performance for monaural listeners in the aided condition for speech poorer ear/noise better ear, speech front/noise front, and speech front/noise back. No significant difference was observed on performance with CROS versus BAI subjects. Conclusion: Contrary to earlier studies suggesting improved performance of BAIs over CROS, the current study found no difference in performance in BAI over CROS devices. Both CROS and BAI provide significant benefit for monaural listeners. The results suggest that noninvasive CROS solutions can successfully rehabilitate certain monaural listening deficits, provide improved hearing outcomes, and expand the reach of treatment in this population.

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Changes in Serum Prestin Concentration After Exposure to Cisplatin

imageHypothesis: There are temporal changes in the outer-hair-cell-specific protein, prestin, in the blood after administration of low-dose cisplatin. Methods: Two rodent models of ototoxicity were used. After control and baseline data collection, mice (n = 30) and guinea pigs (n = 10), respectively, were treated with cisplatin at 8 mg/kg. Auditory brainstem responses were recorded on Days 1, 3, 7, and 14 after treatment. Five mice were sacrificed at each time point and serum samples were obtained. A group of 10 guinea pigs were tested and serum samples were collected at each time point. Serum prestin concentrations were measured using separate enzyme-linked immunosorbent assays for each species. Results: Auditory brainstem responses thresholds changed relatively little in mice, but gradually increased in guinea pigs, as a function of time after cisplatin exposure. In contrast, serum prestin concentrations rose, reaching a peak on Days 3 and 7 after cisplatin treatment in mouse and guinea pig, respectively, before declining back to or below baseline/control levels 14 days after treatment. Conclusion: There was a time-dependent pattern of change in serum prestin after exposure to low-dose cisplatin in a resistant (mouse) and sensitive (guinea pig) rodent models. These comparative results suggest prestin may serve as a biomarker for cisplatin ototoxicity.

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Patterns of Extended High-frequency Hearing Loss Following Stapes Surgery

imageObjective: Thresholds in the extended high-frequency (EHF) range (> 8 kHz) often worsen after otherwise successful stapedectomy. The aims of this study were to document the prevalence of hearing loss from 0.25 to 16 kHz after stapedectomy and the relative rates of transient and permanent EHF hearing loss. Study Design: Prospective, observational, longitudinal. Setting: Tertiary referral center. Patients: Thirty-nine patients who underwent 44 primary or revision stapes surgeries. Intervention: Hearing thresholds were measured at 0.25 to 16 kHz preoperatively, and at approximately 1 week, 1, 3, 6, and 12 months postoperatively. Main Outcome Measures: Average threshold changes in bands of frequencies (0.25–1, 2–8, 9–11.2, 12.5–16 kHz) and the percentage of patients with a change in the highest frequency at which a hearing threshold could be measured were evaluated at each assessment. Results: A mean hearing loss was documented in the EHF range at all postoperative assessments. There was a decrease in the highest frequency at which a hearing threshold was measureable in 77% of patients at the first postoperative assessment, and despite some improvement over time, in 50% of patients 12 months postoperatively. Conclusion: There is a significant incidence of EHF loss after stapedectomy. Although partial recovery often occurs, more than half of patients retain an EHF hearing loss 12 months postoperatively. As hearing loss in the EHF range is more common than loss at 4 kHz, EHF measurements may be a more sensitive model to compare surgical factors and evaluate pharmacologic interventions.

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Response to Letter to the Editor: “Comparison of Acyclovir and Famciclovir for Ramsay Hunt Syndrome”

No abstract available

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The Etiological Relationship Between Migraine and Sudden Hearing Loss

imageObjectives: To investigate the relationship between sudden sensorineural hearing loss (SSNHL) and migraine, assess the prevalence of migraine in patients with idiopathic SSNHL, and determine a possible common vascular etiopathogenesis for migraine and SSNHL. Study Design: Prospective cohort study. Setting: Tertiary referral center. Patients: This study initially assessed 178 SSNHL cases obtained from the Head and Neck Surgery Clinic patient database at a tertiary hospital in Turkey between January 2011 and March 2016. Ultimately, a total of 61 idiopathic SSNHL patients participated in the present study. İnterventions: Diagnostic. Main Outcome Measures: Cases with inflammation in the middle or inner ear; a retro cochlear tumor; autoimmune, infectious, functional, metabolic, neoplastic, traumatic, toxic, or vascular causes; Meniere's disease; otosclerosis; multiple sclerosis; and/or cerebrovascular diseases were excluded. Results: Of the 61 idiopathic SSHNL patients, 34 were women (55.74%); and 24 (39.34%) had migraine, according to the criteria of the International Headache Society (IHS). The mean age of the migraine patients (Group 1) was 43.83 ± 13.16 years, and that of those without migraine (Group 2) was 51.05 ± 16.49 years. The groups did not significantly differ in terms of age, sex, or SSNHL recovery rates according to the Siegel criteria (p > 0.05). Ten of the migraine patients experienced visual aura, and the recovery rates of this group were higher. Additionally, the rate of total hearing loss was lower in Group 1 (n = 3, 12.5%) than in Group 2 (n = 10, 27%). Conclusion: SSNHL patients had a higher prevalence of migraine. Although those with migraine had higher recovery rates, the differences were not statistically significant.

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Effectiveness of Directional Microphones in Bilateral/Bimodal Cochlear Implant Users—Impact of Spatial and Temporal Noise Characteristics

imageObjective: To measure speech reception thresholds (SRTs) in co-located (S0N0) and diffuse noise conditions (multi-source noise field, MSNF) and to assess the impact of beamforming algorithms in MSNF in cochlear implant (CI) users. Study Design: Non-randomized, open, prospective study. Setting: Tertiary referral cochlear implantation center. Patients: Participants included 14 CI users (7 bimodal, 7 bilateral) and 14 normal hearing young adults. Interventions: Cochlear implantation. Main Outcome Measures: SRTs were assessed by means of a German matrix sentence test in either continuous or modulated noise. Loudspeakers were configured in two different conditions: S0N0 and MSNF (speech source in front, four speakers distributed at ±28.6 and ±151.4 degrees). In MSNF, the CI speech processor microphone was set in different directional sensitivity settings: standard (sub-cardioid), fixed (super-cardioid), and adaptive. Results: In continuous noise, SRTs of both CI groups were comparable. In modulated noise, bimodal CI users showed lower SRTs than bilateral CI group, but significant benefit from glimpsing was only demonstrated in normal hearing participants. All subject groups showed significant spatial release from masking (i.e., SRT improvement in MSNF compared with S0N0 condition) in continuous noise. A tendency of improved SRT (1 dB bimodal, 2 dB bilateral) with fixed and adaptive directional sensitivity was found which could not be statistically confirmed due to large between-subject variations. Conclusions: The absence of the glimpsing effect in CI users was reaffirmed in the present study. Although very effective in single noise source conditions, the beneficial impact of beamforming algorithms in multiple noise source conditions is poor.

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STRC Deletion is a Frequent Cause of Slight to Moderate Congenital Hearing Impairment in the Czech Republic

imageObjective: This study aimed to clarify the molecular epidemiology of hearing loss by identifying the responsible genes in patients without GJB2 mutations. Study Design: Prospective genetic study. Setting: Tertiary referral hospital. Patients: Fifty one patients with bilateral sensorineural hearing loss, 20 men, and 31 women, mean age 24.9 years, range 3 to 64 years, from 49 families. GJB2 and deltaGJB6-D13S1830 mutations were excluded previously. Intervention: Diagnostic. Sixty-nine genes reported to be causative of hearing loss were analyzed. Sequence capture technology, next-generation sequencing, and multiplex ligation-dependent probe amplification (MLPA) were used. Coverage of STRC was screened in Integrative Genomics Viewer software. Main Outcome Measure: Identification of causal pathogenic mutations in genes related to deafness. Results: Five families (10%) had recessive STRC deletions or mutations. Five unrelated patients (10%) had recessive mutations in TMPRSS3, USH2A, PCDH15, LOXHD1, and MYO15A. Three families (6%) had autosomal dominant mutations in MYO6A, KCNQ4, and SIX1. One family (2%) had an X-linked POU3F4 mutation. Thus, we identified the cause of hearing loss in 28% of the families studied. Conclusions: Following GJB2, STRC was the second most frequently mutated gene in patients from the Czech Republic with hearing loss. To decrease the cost of testing, we recommend STRC deletion screening with MLPA before next-generation sequencing. The existence of a pseudogene and polymorphic STRC regions can lead to false-positive or false-negative results when copy number variation analysis is based on next-generation sequencing data.

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Long-term Hearing Preservation After Resection of Vestibular Schwannoma: A Systematic Review and Meta-analysis

imageObjective: The objective is to perform a systematic review and meta-analysis of the literature on the long-term results of hearing preservation after vestibular schwannoma resection. Data Sources: Ovid/Medline, PubMed, Embase, and the Cochrane library from January 1980 to January 2015. Study Selection: Inclusion criteria: age ≥18 years, minimum 10 patients in the treatment group, hearing preserving microsurgery, no previous radiation treatment, serviceable hearing at immediate postop follow-up, hearing outcomes reported using Gardner Robinson or the American Academy of Otolaryngology-Head and Neck Surgeons hearing grading scales, and average follow-up of 5 years. Preoperative, immediate postoperative, and last follow-up audiograms were required. Exclusion criteria included neurofibromatosis type 2 patients and surgery for salvage therapy or decompression. Data Extraction: Quality evaluated using Methodological Index for Non-Randomized Studies. Data Synthesis: Meta-analysis was performed using R v3.2.2, Metafor package v 1.9-7. Cohen's D was used to determine effect size. Ten reports had at least 5-year follow-up and used standardized hearing grading scales. The systematic review found that if hearing was preserved at Class A or B at early postop visit, the chance of preserving hearing at 5 years was excellent. Those who maintained speech discrimination score ≥ 89% at the early postoperative follow-up had better long-term hearing preservation. The meta-analysis reveals that only preoperative and postoperative pure-tone average was associated with long-term hearing preservation. Conclusion: Long-term (>5 yr) hearing durability rates are generally very good. Most studies do not report patient and tumor characteristics, therefore precluding combining studies for meta-analysis. Only preoperative and postoperative postoperative pure-tone average was associated with long-term hearing durability.

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Patterns Seen During Electrode Insertion Using Intracochlear Electrocochleography Obtained Directly Through a Cochlear Implant

imageHypothesis: Intraoperative, intracochlear electrocochleography (ECochG) will provide a means to monitor cochlear hair cell and neural response during cochlear implant (CI) electrode insertion. Distinct patterns in the insertion track can be characterized. Background: Conventional CI surgery is performed without a means of actively monitoring cochlear hair cell and neural responses. Intracochlear ECochG obtained directly through the CI may be a source of such feedback. Understanding the patterns observed in the “insertion track” is an essential step toward refining intracochlear ECochG as a tool that can be used to assist in intraoperative decision making and prognostication of hearing preservation. Methods: Intracochlear ECochG was performed in 17 patients. During electrode insertion, a 50-ms tone burst acoustic stimulus was delivered with a frequency of 500 Hz at 110 dB SPL. The ECochG response was monitored from the apical-most electrode. The amplitude of the first harmonic was plotted and monitored in near real time by the audiologist-surgeon team during CI electrode insertion. Results: Three distinct patterns in first harmonic amplitude change were observed across subjects during insertion: Type A (52%), overall increase in amplitude from the beginning of insertion until completion; Type B (11%), a maximum amplitude at the beginning of insertion, with a decrease in amplitude as insertion progressed to completion; and Type C (35%), comparable amplitudes at the beginning and completion of the insertion with the maximum amplitude mid-insertion. Conclusion: Three ECochG patterns were observed during electrode advancement into the cochlea. Ongoing and future work will broaden our scope of knowledge regarding the relationship among these patterns, the presence of cochlear trauma, and functional outcomes related to hearing preservation.

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Cochlear Dysfunction is not Common in Human Meningioma of the Internal Auditory Canal

imageHypothesis: Cochlear dysfunction is not common in human meningioma of the internal auditory canal. Background: Meningiomas arising from the cerebellopontine angle and internal auditory canal typically cause hearing loss. Cochlear dysfunction is known to contribute to sensorineural hearing loss induced by vestibular schwannoma, the most common tumor of the internal auditory canal. Detailed cochlear histopathology in meningioma has not been reported. Methods: Retrospective analysis of cochlear histopathology in five unoperated and five operated meningiomas of the internal auditory canal identified after screening human temporal bone collections from three academic medical centers. Results: While some dysfunction of all analyzed cochlear cell types was identified, a predominant or exclusive loss of hair cells was not observed in any meningioma. Only 14.3% of temporal bones showed significantly more hair cell damage on the side of the tumor when compared with the contralateral ear; cochlear neuronal damage was more prevalent in meningiomas. The incidence of hydrops, perilymphatic precipitate, or endolymphatic precipitate was low. Conclusions: Substantial cochlear damage in human meningioma of the internal auditory canal is not common. This may explain the anecdotal hearing improvement observed after surgical resection of meningioma. Our findings underline the importance of developing therapeutic strategies to prevent cochlear neuronal degeneration due to tumors of the internal auditory canal.

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Decline of Low-Frequency Hearing in People With Ski-Slope Hearing Loss; Implications for Electrode Array Insertion

imageHypothesis: The decline of low-frequency hearing in people with ski-slope hearing loss varies and might depend on etiology. Background: People with ski-sloping hearing loss might benefit from cochlear implantation with preservation of residual hearing. To reduce the risk of losing low-frequency hearing after implantation, the electrode-array can be inserted partially up to the desired frequency. That, however, obstructs electrical stimulation of lower frequencies. To decide between complete or partial insertion, knowledge regarding the natural decline of low-frequency hearing is helpful. Methods: Patients with at least two ski-slope audiograms over time were selected. We calculated progression at lower frequencies for 320 patients. Etiologies for hearing loss were retrieved from medical records. Progression of hearing loss was analyzed separately for patients with uni- and bilateral hearing losses. Relative progression of hearing loss was obtained by comparing progression to a reference group. Results: Average progression of PTA was 1.73 dB/yr and was not significantly different in the bilateral and unilateral group. Etiologies that did not show significantly more progression compared with the reference group could be identified as single or short-lasting pathologic events, whereas long-lasting conditions had significant more progression of PTA. Conclusion: Patients with a ski-slope hearing loss that was caused by a single or short-lasting event have low progression rate and are viable for partial insertion to minimize the risk of damaging residual low-frequency hearing. In the absence of such an event, complete insertion should be considered because faster than normal deterioration of low-frequency hearing over time will probably limit the advantage of preservation of residual hearing.

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Relationship between radiographic patella-alta pathology and walking dysfunction in children with bilateral spastic Cerebral Palsy

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Publication date: February 2018
Source:Gait & Posture, Volume 60
Author(s): Matthias Hösl, Harald Böhm, Michaela Seltmann, Chakravarthy Ugandhar Dussa, Leonhard Döderlein
BackgroundPatella-alta is very common in patients with Cerebral Palsy (CP). While several diagnostic x-ray indices have been developed for patella-alta in general, the specific relationship with walking dysfunction in CP is only partly understood.Methods33 participants with bilateral spastic CP between 4 and 20 years (GMFCS I–II without previous surgery) that underwent 3D gait analysis as well as a radiographic exam within 0.8 (SD 1.2) months were retrospectively included. The Caton-Deschamps, the Insall-Salvati and the Koshino-Index, as well as the moment-arms of the quadriceps, the pattelar-tendon length and patellar tilt angle were analyzed from x-rays. During gait, tempo-spatial parameters, the knee flexion kinematics, the knee moments and the moment impulse were calculated and correlated to x-ray parameters.ResultsSmaller quadriceps moment-arms were related to slower walking speed (r=0.48, P=0.005) and less knee extension during stance (r=0.68 P<0.001). Smaller quadriceps moment arms and longer patellar-tendons were also significantly related to a larger knee flexion moment impulse in the second half of the stance phase (r=−0.36, P=0.045 and r=0.39, P=0.028) and hence to more abnormal knee loads. Yet, none of the traditional indices was related to any parameter of gait.InterpretationTraditional radiographic indices for patella-alta possess little to no informative value for walking dysfunction in individuals with CP suspected to have knee pathology. Smaller moment-arms are a key feature of patellofemoral pathology in CP reducing the knee extensor mechanism, an aspect which is not sufficiently picked up by traditional indices.



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Surgical Management of Tumors Involving Meckel's Cave and Cavernous Sinus: Role of an Extended Middle Fossa and Lateral Sphenoidectomy Approach.

Objective: To study the indications and outcomes of lateral sphenoidectomy as part of a combined skull base approach in the treatment of tumors involving Meckel's cave (MC) and cavernous sinus (CS). Study Design: Retrospective patient series. Setting: Tertiary referral center. Patients: Twenty-two consecutive patients (mean age: 45 yr, range: 16-76) who underwent transzygomatic, extended middle fossa approaches for tumors involving MC and CS. Interventions: Surgical access to MC and CS was achieved via extended middle fossa, trans-clinoid approach. Lateral sphenoidectomy was defined as drill-out of the greater sphenoid wing lateral to foramen rotundum and ovale, decompression of superior orbital fissure, and removal of anterior clinoid process. Reconstruction was achieved using combination of autologous and synthetic materials. Eleven patients (50%) received adjuvant radiation. Main Outcome Measures and Results: Tumor pathologies included meningioma (16 patients), epidermoid cyst (2), trigeminal schwannoma (2), invasive pituitary adenoma (1), and chondrosarcoma (1). Mean (range) preoperative tumor size was 4.0 cm (1.3-9). Mean (range) length of follow-up was 4 years (range 0.1-10). Overall tumor control and gross total resection were achieved in 95 and 23% of patients, respectively. Lateral sphenoidectomy was performed in 16 patients (73%) for enhanced surgical access and/or tumor extension to the infratemporal fossa (6 patients). Postoperatively, cranial nerve deficits occurred in 12 (55%) patients (V-9 patients; III, IV, or VI-4; VII-2; VIII-2). Cerebrospinal fluid leak and hydrocephalus occurred in two and four patients, respectively. Conclusion: In combination with middle fossa-based approaches to tumors involving MC and CS, lateral sphenoidectomy may play a viable role in tumor access and control. Copyright (C) 2017 by Otology & Neurotology, Inc. Image copyright (C) 2010 Wolters Kluwer Health/Anatomical Chart Company

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The psychological and social consequences of single-sided deafness in adulthood

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The psychological and social consequences of single-sided deafness in adulthood

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The psychological and social consequences of single-sided deafness in adulthood

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The psychological and social consequences of single-sided deafness in adulthood

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The psychological and social consequences of single-sided deafness in adulthood

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Retrosigmoid intradural suprameatal-inframeatal approach for complete surgical removal of a giant recurrent vestibular schwannoma with severe petrous bone involvement: technical case report.

Related Articles

Retrosigmoid intradural suprameatal-inframeatal approach for complete surgical removal of a giant recurrent vestibular schwannoma with severe petrous bone involvement: technical case report.

World Neurosurg. 2017 Nov 09;:

Authors: Sato Y, Mizutani T, Shimizu K, Freund HJ, Samii M

Abstract
BACKGROUND: Surgical removal of giant vestibular schwannomas with severe petrous bone involvement remains challenging due to the high risk of complications. The retrosigmoid intradural suprameatal-inframeatal approach (RISIA) allows for safe exposure extending from Meckel's cave to the petrous internal carotid artery (ICA).
CLINICAL DESCRIPTION: A 27-year-old man presented with recurrence of a giant vestibular schwannoma (4.5 cm) invading Meckel's cave and the left petrous ICA. Symptoms included complete left facial palsy and hearing loss due to tumor invasion and previous operations, as well as left-sided trigeminal hypesthesia, abducens nerve palsy, and lower cranial nerve dysfunction due to tumor compression. The patient also exhibited severe discoordination and ataxia. The tumor was completely resected via the RISIA, which involved drilling of the suprameatal and inframeatal portions of the petrous bone. No approach-related complications were observed. Full recovery of cranial nerve functions (with the exception of those related to the facial and cochlear nerves) and balance were observed postoperatively.
CONCLUSIONS: The RISIA allows for safe and effective surgical access during complete tumor resection, even when severe involvement of Meckel's cave and the petrous ICA are observed. The present report is the first to demonstrate the usefulness of this approach in patients with recurrent giant vestibular schwannoma.

PMID: 29129769 [PubMed - as supplied by publisher]



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Retrosigmoid intradural suprameatal-inframeatal approach for complete surgical removal of a giant recurrent vestibular schwannoma with severe petrous bone involvement: technical case report.

Related Articles

Retrosigmoid intradural suprameatal-inframeatal approach for complete surgical removal of a giant recurrent vestibular schwannoma with severe petrous bone involvement: technical case report.

World Neurosurg. 2017 Nov 09;:

Authors: Sato Y, Mizutani T, Shimizu K, Freund HJ, Samii M

Abstract
BACKGROUND: Surgical removal of giant vestibular schwannomas with severe petrous bone involvement remains challenging due to the high risk of complications. The retrosigmoid intradural suprameatal-inframeatal approach (RISIA) allows for safe exposure extending from Meckel's cave to the petrous internal carotid artery (ICA).
CLINICAL DESCRIPTION: A 27-year-old man presented with recurrence of a giant vestibular schwannoma (4.5 cm) invading Meckel's cave and the left petrous ICA. Symptoms included complete left facial palsy and hearing loss due to tumor invasion and previous operations, as well as left-sided trigeminal hypesthesia, abducens nerve palsy, and lower cranial nerve dysfunction due to tumor compression. The patient also exhibited severe discoordination and ataxia. The tumor was completely resected via the RISIA, which involved drilling of the suprameatal and inframeatal portions of the petrous bone. No approach-related complications were observed. Full recovery of cranial nerve functions (with the exception of those related to the facial and cochlear nerves) and balance were observed postoperatively.
CONCLUSIONS: The RISIA allows for safe and effective surgical access during complete tumor resection, even when severe involvement of Meckel's cave and the petrous ICA are observed. The present report is the first to demonstrate the usefulness of this approach in patients with recurrent giant vestibular schwannoma.

PMID: 29129769 [PubMed - as supplied by publisher]



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Further delineation of the GDF6 related multiple synostoses syndrome.

Further delineation of the GDF6 related multiple synostoses syndrome.

Am J Med Genet A. 2017 Nov 12;:

Authors: Terhal PA, Verbeek NE, Knoers N, Nievelstein RJAJ, van den Ouweland A, Sakkers RJ, Speleman L, van Haaften G

Abstract
A mutation in GDF6 was recently found to underlie a multiple synostoses syndrome. In this report, we describe the second family with GDF6-related multiple synostoses syndrome (SYNS4), caused by a novel c.1287C>A/p.Ser429Arg mutation in GDF6. In addition to synostoses of carpal and/or tarsal bones, at least 6 of 10 affected patients in this family have been diagnosed with mild to moderate hearing loss. In four of them otosclerosis was said to be present, one patient had hearing loss due to severe stapes fixation at the age of 6 years, providing evidence that hearing loss in the GDF6-related multiple synostoses syndrome can be present in childhood. Two others had surgery for stapes fixation at adult age. We hypothesize that, identical to the recently published GDF6-related multiple synostoses family, the p.Ser429Arg mutation also leads to a gain of function. The previously reported c.1330T>A/pTyr444Asn mutation was located in a predicted Noggin and receptor I interacting domain and the gain of function was partly due to resistance of the mutant GDF6 to the BMP-inhibitor Noggin. The results in our family show that mutations predicting to affect the type II receptor interface can lead to a similar phenotype and that otosclerosis presenting in childhood can be part of the GDF6-related multiple synostoses syndrome.

PMID: 29130651 [PubMed - as supplied by publisher]



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Tocilizumab for the Treatment of SLC29A3 Mutation Positive PHID Syndrome.

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Tocilizumab for the Treatment of SLC29A3 Mutation Positive PHID Syndrome.

Pediatrics. 2017 Nov;140(5):

Authors: Rafiq NK, Hussain K, Brogan PA

Abstract
Pigmentary hypertrichosis and non-autoimmune insulin-dependent diabetes mellitus (PHID) is associated with recessive mutations in SLC29A3, encoding the equilibrative nucleoside transporter hENT3 expressed in mitochondria, causing PHID and H syndromes, familial Rosai-Dorfman disease, and histiocytosis-lymphadenopathy-plus syndrome. Autoinflammation is increasingly recognized in these syndromes. We previously reported a 16-year-old girl with PHID syndrome associated with severe autoinflammation that was recalcitrant to interleukin-1 and tumor necrosis factor-α blockade. Tocilizumab is a humanized, monoclonal, anti-human interleukin-6 receptor antibody routinely used to treat arthritis in children and adults. Herein we report the first case of successful treatment of PHID syndrome using tocilizumab. Before commencing tocilizumab, there was evidence of significant systemic inflammation, and progressive sclerodermatous changes (physician global assessment [PGA] 7/10). Twelve weeks after starting tocilizumab (8 mg/kg every 2 weeks, intravenously) systemic inflammatory symptoms improved, and acute phase response markers normalized; serum amyloid A reduced from 178 to 8.4 mg/L. After a dose increase to 12 mg/kg every 2 weeks her energy levels, appetite, fevers, and night sweats further improved. Less skin tightness (PGA 5/10) was documented 12 months later. This excellent clinical and serological response was sustained over 48 months, and cutaneous sclerosis had improved further (PGA 3/10). Her height remained well below the 0.4th centile, and tocilizumab also had no impact on her diabetes or exocrine pancreatic insufficiency. Although the mechanism of autoinflammation of PHID remains uncertain, we suggest that tocilizumab should be the first choice when considering treatment of the autoinflammatory or cutaneous manifestations of this genetic disease.

PMID: 29079714 [PubMed - indexed for MEDLINE]



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Reduced penetrance in a large Caucasian pedigree with Stickler syndrome.

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Reduced penetrance in a large Caucasian pedigree with Stickler syndrome.

Ophthalmic Genet. 2017 Jan-Feb;38(1):43-50

Authors: Tompson SW, Johnson C, Abbott D, Bakall B, Soler V, Yanovitch TL, Whisenhunt KN, Klemm T, Rozen S, Stone EM, Johnson M, Young TL

Abstract
BACKGROUND: In a four-generation Caucasian family variably diagnosed with autosomal dominant (AD) Stickler or Wagner disease, commercial gene screening failed to identify a mutation in COL2A1 or VCAN. We utilized linkage mapping and exome sequencing to identify the causal variant.
MATERIALS AND METHODS: Genomic DNA samples collected from 40 family members were analyzed. A whole-genome linkage scan was performed using Illumina HumanLinkage-24 BeadChip followed by two-point and multipoint linkage analyses using FASTLINK and MERLIN. Exome sequencing was performed on two affected individuals, followed by co-segregation analysis.
RESULTS: Parametric multipoint linkage analysis using an AD inheritance model demonstrated HLOD scores > 2.00 at chromosomes 1p36.13-1p36.11 and 12q12-12q14.1. SIMWALK multipoint analysis replicated the peak in chromosome 12q (peak LOD = 1.975). FASTLINK two-point analysis highlighted several clustered chromosome 12q SNPs with HLOD > 1.0. Exome sequencing revealed a novel nonsense mutation (c.115C>T, p.Gln39*) in exon 2 of COL2A1 that is expected to result in nonsense-mediated decay of the RNA transcript. This mutation co-segregated with all clinically affected individuals and seven individuals who were clinically unaffected.
CONCLUSIONS: The utility of combining traditional linkage mapping and exome sequencing is highlighted to identify gene mutations in large families displaying a Mendelian inheritance of disease. Historically, nonsense mutations in exon 2 of COL2A1 have been reported to cause a fully penetrant ocular-only Stickler phenotype with few or no systemic manifestations. We report a novel nonsense mutation in exon 2 of COL2A1 that displays incomplete penetrance and/or variable age of onset with extraocular manifestations.

PMID: 28095098 [PubMed - indexed for MEDLINE]



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