Application of a New Genetic Deafness Microarray for Detecting Mutations in the Deaf in China

by Hong Wu, Yong Feng, Lu Jiang, Qian Pan, Yalan Liu, Chang Liu, Chufeng He, Hongsheng Chen, Xueming Liu, Chang Hu, Yiqiao Hu, Lingyun Mei

Objective

The aim of this study was to evaluate the GoldenGate microarray as a diagnostic tool and to elucidate the contribution of the genes on this array to the development of both nonsyndromic and syndromic sensorineural hearing loss in China.

Methods

We developed a microarray to detect 240 mutations underlying syndromic and nonsyndromic sensorineural hearing loss. The microarray was then used for analysis of 382 patients with nonsyndromic sensorineural hearing loss (including 15 patients with enlarged vestibular aqueduct syndrome), 21 patients with Waardenburg syndrome, and 60 unrelated controls. Subsequently, we analyzed the sensitivity, specificity, and reproducibility of this new approach after Sanger sequencing-based verification, and also determined the contribution of the genes on this array to the development of distinct hearing disorders.

Results

The sensitivity and specificity of the microarray chip were 98.73% and 98.34%, respectively. Genetic defects were identified in 61.26% of the patients with nonsyndromic sensorineural hearing loss, and 9 causative genes were identified. The molecular etiology was confirmed in 19.05% and 46.67% of the patients with Waardenburg syndrome and enlarged vestibular aqueduct syndrome, respectively.

Conclusion

Our new mutation-based microarray comprises an accurate and comprehensive genetic tool for the detection of sensorineural hearing loss. This microarray-based detection method could serve as a first-pass screening (before next-generation-sequencing screening) for deafness-causing mutations in China.

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Comparison of Intelligibility Measures for Adults With Parkinson's Disease, Adults With Multiple Sclerosis, and Healthy Controls

Purpose

This study obtained judgments of sentence intelligibility using orthographic transcription for comparison with previously reported intelligibility judgments obtained using a visual analog scale (VAS) for individuals with Parkinson's disease and multiple sclerosis and healthy controls (K. Tjaden, J. E. Sussman, & G. E. Wilding, 2014).

Method

Speakers read Harvard sentences in habitual, clear, loud, and slow conditions. Sentence stimuli were equated for peak intensity and mixed with multitalker babble. A total of 50 listeners orthographically transcribed sentences. Procedures were identical to those for a VAS reported in Tjaden, Sussman, and Wilding (2014).

Results

The percent correct scores from transcription were significantly higher in magnitude than the VAS scores. Multivariate linear modeling indicated that the pattern of findings for transcription and VAS was virtually the same with respect to differences among groups and speaking conditions. Correlation analyses further indicated a moderately strong, positive relationship between the two metrics. The majority of these correlations were significant. Last, intrajudge and interjudge listener reliability metrics for the two intelligibility tasks were comparable.

Conclusion

Results suggest that there may be instances when the less time-consuming VAS task may be a viable substitute for an orthographic transcription task when documenting intelligibility in mild dysarthria.

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Intraoperative assessment of Ossicular Fixation

Publication date: Available online 28 March 2016
Source:Hearing Research
Author(s): John Peacock, Joris Dirckx, Magnus von Unge
Determining the degree of ossicular fixation is a difficult task, with the final assessment often being made with manual palpation during exploratory tympanotomy. A more objective method to evaluate ossicular fixation would be valuable.In this paper we describe a new method which makes use of a magnet and coil to measure ossicular motion through the ear canal with an elevated tympanic membrane. We report measurements of the vibration response at the umbo, the tip of the incus long process and the lateral posterior crus of the stapes before and after artificially fixing the stapes footplate and anterior mallear ligament with luting cement. Results were obtained on temporal bones, but the practicality of the method allows easy clinical implementation. Velocity ratios between different measurement points along the ossicular chain may provide a quantitative indication of the degree of stapes fixation. Isolated anterior mallear ligament fixation was not distinguishable from the unfixed condition.



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Comparison of Intelligibility Measures for Adults With Parkinson's Disease, Adults With Multiple Sclerosis, and Healthy Controls

Purpose

This study obtained judgments of sentence intelligibility using orthographic transcription for comparison with previously reported intelligibility judgments obtained using a visual analog scale (VAS) for individuals with Parkinson's disease and multiple sclerosis and healthy controls (K. Tjaden, J. E. Sussman, & G. E. Wilding, 2014).

Method

Speakers read Harvard sentences in habitual, clear, loud, and slow conditions. Sentence stimuli were equated for peak intensity and mixed with multitalker babble. A total of 50 listeners orthographically transcribed sentences. Procedures were identical to those for a VAS reported in Tjaden, Sussman, and Wilding (2014).

Results

The percent correct scores from transcription were significantly higher in magnitude than the VAS scores. Multivariate linear modeling indicated that the pattern of findings for transcription and VAS was virtually the same with respect to differences among groups and speaking conditions. Correlation analyses further indicated a moderately strong, positive relationship between the two metrics. The majority of these correlations were significant. Last, intrajudge and interjudge listener reliability metrics for the two intelligibility tasks were comparable.

Conclusion

Results suggest that there may be instances when the less time-consuming VAS task may be a viable substitute for an orthographic transcription task when documenting intelligibility in mild dysarthria.

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Intraoperative assessment of Ossicular Fixation

Publication date: Available online 28 March 2016
Source:Hearing Research
Author(s): John Peacock, Joris Dirckx, Magnus von Unge
Determining the degree of ossicular fixation is a difficult task, with the final assessment often being made with manual palpation during exploratory tympanotomy. A more objective method to evaluate ossicular fixation would be valuable.In this paper we describe a new method which makes use of a magnet and coil to measure ossicular motion through the ear canal with an elevated tympanic membrane. We report measurements of the vibration response at the umbo, the tip of the incus long process and the lateral posterior crus of the stapes before and after artificially fixing the stapes footplate and anterior mallear ligament with luting cement. Results were obtained on temporal bones, but the practicality of the method allows easy clinical implementation. Velocity ratios between different measurement points along the ossicular chain may provide a quantitative indication of the degree of stapes fixation. Isolated anterior mallear ligament fixation was not distinguishable from the unfixed condition.



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Comparison of Intelligibility Measures for Adults With Parkinson's Disease, Adults With Multiple Sclerosis, and Healthy Controls

Purpose

This study obtained judgments of sentence intelligibility using orthographic transcription for comparison with previously reported intelligibility judgments obtained using a visual analog scale (VAS) for individuals with Parkinson's disease and multiple sclerosis and healthy controls (K. Tjaden, J. E. Sussman, & G. E. Wilding, 2014).

Method

Speakers read Harvard sentences in habitual, clear, loud, and slow conditions. Sentence stimuli were equated for peak intensity and mixed with multitalker babble. A total of 50 listeners orthographically transcribed sentences. Procedures were identical to those for a VAS reported in Tjaden, Sussman, and Wilding (2014).

Results

The percent correct scores from transcription were significantly higher in magnitude than the VAS scores. Multivariate linear modeling indicated that the pattern of findings for transcription and VAS was virtually the same with respect to differences among groups and speaking conditions. Correlation analyses further indicated a moderately strong, positive relationship between the two metrics. The majority of these correlations were significant. Last, intrajudge and interjudge listener reliability metrics for the two intelligibility tasks were comparable.

Conclusion

Results suggest that there may be instances when the less time-consuming VAS task may be a viable substitute for an orthographic transcription task when documenting intelligibility in mild dysarthria.

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Intraoperative assessment of Ossicular Fixation

Publication date: Available online 28 March 2016
Source:Hearing Research
Author(s): John Peacock, Joris Dirckx, Magnus von Unge
Determining the degree of ossicular fixation is a difficult task, with the final assessment often being made with manual palpation during exploratory tympanotomy. A more objective method to evaluate ossicular fixation would be valuable.In this paper we describe a new method which makes use of a magnet and coil to measure ossicular motion through the ear canal with an elevated tympanic membrane. We report measurements of the vibration response at the umbo, the tip of the incus long process and the lateral posterior crus of the stapes before and after artificially fixing the stapes footplate and anterior mallear ligament with luting cement. Results were obtained on temporal bones, but the practicality of the method allows easy clinical implementation. Velocity ratios between different measurement points along the ossicular chain may provide a quantitative indication of the degree of stapes fixation. Isolated anterior mallear ligament fixation was not distinguishable from the unfixed condition.



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