Objectives: Cochlear implantation (CI) has been the most successful procedure for restoring hearing in a patient with severe and profound hearing loss. However, possibly owing to the variable brain functions of each patient, its performance and the associated patient satisfaction are widely variable. The authors hypothesize that peripheral and cerebral circulation can be assessed by noninvasive and globally available methods, yielding superior presurgical predictive factors of the performance of CI in adult patients with postlingual hearing loss who are scheduled to undergo CI. Design: Twenty-two adult patients with cochlear implants for postlingual hearing loss were evaluated using Doppler sonography measurement of the cervical arteries (reflecting cerebral blood flow), flow-mediated dilation (FMD; reflecting the condition of cerebral arteries), and their pre-/post-CI best score on a monosyllabic discrimination test (pre-/post-CI best monosyllabic discrimination [BMD] score). Correlations between post-CI BMD score and the other factors were examined using univariate analysis and stepwise multiple linear regression analysis. The prediction factors were calculated by examining the receiver-operating characteristic curve between post-CI BMD score and the significantly positively correlated factors. Results: Age and duration of deafness had a moderately negative correlation. The mean velocity of the internal carotid arteries and FMD had a moderate-to-strong positive correlation with the post-CI BMD score in univariate analysis. Stepwise multiple linear regression analysis revealed that only FMD was significantly positively correlated with post-CI BMD score. Analysis of the receiver-operating characteristic curve showed that a FMD cutoff score of 1.8 significantly predicted post-CI BMD score. Conclusions: These data suggest that FMD is a convenient, noninvasive, and widely available tool for predicting the efficacy of cochlear implants. An FMD cutoff score of 1.8 could be a good index for determining whether patients will hear well with cochlear implants. It could also be used to predict whether cochlear implants will provide good speech recognition benefits to candidates, even if their speech discrimination is poor. This FMD index could become a useful predictive tool for candidates with poor speech discrimination to determine the efficacy of CI before surgery. Copyright (C) 2017 Wolters Kluwer Health, Inc. All rights reserved.
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Τετάρτη 1 Νοεμβρίου 2017
Hearing Handicap and Speech Recognition Correlate With Self-Reported Listening Effort and Fatigue.
Objectives: To investigate the correlations between hearing handicap, speech recognition, listening effort, and fatigue. Design: Eighty-four adults with hearing loss (65 to 85 years) completed three self-report questionnaires: the Fatigue Assessment Scale, the Effort Assessment Scale, and the Hearing Handicap Inventory for Elderly. Audiometric assessment included pure-tone audiometry and speech recognition in noise. Results: There was a significant positive correlation between handicap and fatigue (r = 0.39, p
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Effects of Cerebral Blood Flow and Vessel Conditions on Speech Recognition in Patients With Postlingual Adult Cochlear Implant: Predictable Factors for the Efficacy of Cochlear Implant.
Objectives: Cochlear implantation (CI) has been the most successful procedure for restoring hearing in a patient with severe and profound hearing loss. However, possibly owing to the variable brain functions of each patient, its performance and the associated patient satisfaction are widely variable. The authors hypothesize that peripheral and cerebral circulation can be assessed by noninvasive and globally available methods, yielding superior presurgical predictive factors of the performance of CI in adult patients with postlingual hearing loss who are scheduled to undergo CI. Design: Twenty-two adult patients with cochlear implants for postlingual hearing loss were evaluated using Doppler sonography measurement of the cervical arteries (reflecting cerebral blood flow), flow-mediated dilation (FMD; reflecting the condition of cerebral arteries), and their pre-/post-CI best score on a monosyllabic discrimination test (pre-/post-CI best monosyllabic discrimination [BMD] score). Correlations between post-CI BMD score and the other factors were examined using univariate analysis and stepwise multiple linear regression analysis. The prediction factors were calculated by examining the receiver-operating characteristic curve between post-CI BMD score and the significantly positively correlated factors. Results: Age and duration of deafness had a moderately negative correlation. The mean velocity of the internal carotid arteries and FMD had a moderate-to-strong positive correlation with the post-CI BMD score in univariate analysis. Stepwise multiple linear regression analysis revealed that only FMD was significantly positively correlated with post-CI BMD score. Analysis of the receiver-operating characteristic curve showed that a FMD cutoff score of 1.8 significantly predicted post-CI BMD score. Conclusions: These data suggest that FMD is a convenient, noninvasive, and widely available tool for predicting the efficacy of cochlear implants. An FMD cutoff score of 1.8 could be a good index for determining whether patients will hear well with cochlear implants. It could also be used to predict whether cochlear implants will provide good speech recognition benefits to candidates, even if their speech discrimination is poor. This FMD index could become a useful predictive tool for candidates with poor speech discrimination to determine the efficacy of CI before surgery. Copyright (C) 2017 Wolters Kluwer Health, Inc. All rights reserved.
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Hearing Handicap and Speech Recognition Correlate With Self-Reported Listening Effort and Fatigue.
Objectives: To investigate the correlations between hearing handicap, speech recognition, listening effort, and fatigue. Design: Eighty-four adults with hearing loss (65 to 85 years) completed three self-report questionnaires: the Fatigue Assessment Scale, the Effort Assessment Scale, and the Hearing Handicap Inventory for Elderly. Audiometric assessment included pure-tone audiometry and speech recognition in noise. Results: There was a significant positive correlation between handicap and fatigue (r = 0.39, p
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Effects of Cerebral Blood Flow and Vessel Conditions on Speech Recognition in Patients With Postlingual Adult Cochlear Implant: Predictable Factors for the Efficacy of Cochlear Implant.
Objectives: Cochlear implantation (CI) has been the most successful procedure for restoring hearing in a patient with severe and profound hearing loss. However, possibly owing to the variable brain functions of each patient, its performance and the associated patient satisfaction are widely variable. The authors hypothesize that peripheral and cerebral circulation can be assessed by noninvasive and globally available methods, yielding superior presurgical predictive factors of the performance of CI in adult patients with postlingual hearing loss who are scheduled to undergo CI. Design: Twenty-two adult patients with cochlear implants for postlingual hearing loss were evaluated using Doppler sonography measurement of the cervical arteries (reflecting cerebral blood flow), flow-mediated dilation (FMD; reflecting the condition of cerebral arteries), and their pre-/post-CI best score on a monosyllabic discrimination test (pre-/post-CI best monosyllabic discrimination [BMD] score). Correlations between post-CI BMD score and the other factors were examined using univariate analysis and stepwise multiple linear regression analysis. The prediction factors were calculated by examining the receiver-operating characteristic curve between post-CI BMD score and the significantly positively correlated factors. Results: Age and duration of deafness had a moderately negative correlation. The mean velocity of the internal carotid arteries and FMD had a moderate-to-strong positive correlation with the post-CI BMD score in univariate analysis. Stepwise multiple linear regression analysis revealed that only FMD was significantly positively correlated with post-CI BMD score. Analysis of the receiver-operating characteristic curve showed that a FMD cutoff score of 1.8 significantly predicted post-CI BMD score. Conclusions: These data suggest that FMD is a convenient, noninvasive, and widely available tool for predicting the efficacy of cochlear implants. An FMD cutoff score of 1.8 could be a good index for determining whether patients will hear well with cochlear implants. It could also be used to predict whether cochlear implants will provide good speech recognition benefits to candidates, even if their speech discrimination is poor. This FMD index could become a useful predictive tool for candidates with poor speech discrimination to determine the efficacy of CI before surgery. Copyright (C) 2017 Wolters Kluwer Health, Inc. All rights reserved.
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Hearing Handicap and Speech Recognition Correlate With Self-Reported Listening Effort and Fatigue.
Objectives: To investigate the correlations between hearing handicap, speech recognition, listening effort, and fatigue. Design: Eighty-four adults with hearing loss (65 to 85 years) completed three self-report questionnaires: the Fatigue Assessment Scale, the Effort Assessment Scale, and the Hearing Handicap Inventory for Elderly. Audiometric assessment included pure-tone audiometry and speech recognition in noise. Results: There was a significant positive correlation between handicap and fatigue (r = 0.39, p
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The Vocal Tract Organ: A New Musical Instrument Using 3-D Printed Vocal Tracts
Source:Journal of Voice
Author(s): David M. Howard
The advent and now increasingly widespread availability of 3-D printers is transforming our understanding of the natural world by enabling observations to be made in a tangible manner. This paper describes the use of 3-D printed models of the vocal tract for different vowels that are used to create an acoustic output when stimulated with an appropriate sound source in a new musical instrument: the Vocal Tract Organ. The shape of each printed vocal tract is recovered from magnetic resonance imaging. It sits atop a loudspeaker to which is provided an acoustic L-F model larynx input signal that is controlled by the notes played on a musical instrument digital interface device such as a keyboard. The larynx input is subject to vibrato with extent and frequency adjustable as desired within the ranges usually found for human singing. Polyphonic inputs for choral singing textures can be applied via a single loudspeaker and vocal tract, invoking the approximation of linearity in the voice production system, thereby making multiple vowel stops a possibility while keeping the complexity of the instrument in reasonable check. The Vocal Tract Organ offers a much more human and natural sounding result than the traditional Vox Humana stops found in larger pipe organs, offering the possibility of enhancing pipe organs of the future as well as becoming the basis for a “multi-vowel” chamber organ in its own right.
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Idiopathic Supraglottic Stenosis Refractory to Multiple Interventions Improved With Serial Office-based Steroid Injections
Source:Journal of Voice
Author(s): Matthew R. Hoffman, Johnny P. Mai, Seth H. Dailey
PurposeThe objective of this study was to describe a patient with idiopathic supraglottic stenosis who experienced persistent disease despite multiple office-based and operative interventions, whose disease is now better controlled with scheduled serial office-based steroid injections.MethodsThis is a case report and literature review.ResultsA 42-year-old female was referred for worsening supraglottic stenosis despite systemic steroids. She underwent awake tracheotomy. A thorough historical, histologic, and laboratory workup did not reveal an etiology to her stenosis. She later underwent endoscopic partial laryngectomy and was able to be decannulated. She underwent a second endoscopic partial laryngectomy two years later for worsening disease and then was managed over the next seven years with intermittent systemic steroids. Over the last year, she has undergone eight office-based steroid injections with improvement in her degree of stenosis and symptom burden.ConclusionsThere are only four prior reported cases of idiopathic supraglottic stenosis, none of which has been managed with serial office-based steroid injections. This case report adds to the small body of literature on the management of this rare disease and proposes a new office-based treatment pathway that may help induce regression of stenosis.
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Psychometric Properties of Voice Activity Participation Profile—Persian Version (VAPPP)
Source:Journal of Voice
Author(s): Maryam Faham, Zahra Ghayoumi Anaraki, Akram Ahmadi, Abbas Ebadi, Erin Pearson Silverman
ObjectivesIndividuals with voice disorders may experience limits in activity and restricted participation in daily activities. The aim of this study was to investigate the psychometric properties of the Voice Activity Participation Profile—Persian Version (VAPPP), a questionnaire which specifically investigates activity limitation and participation restriction in Persian-speaking individuals with voice disorders.MethodWe completed a translation procedure according to World Health Organization guidelines, prior to administering the questionnaire to 208 participants (156 patients with dysphonia and 52 controls), each of whom completed the questionnaire. We examined various psychometric properties including item analysis, factor analysis, internal consistency, discriminant validity, criterion-related validity, and test-retest reliability were investigated for this questionnaire.ResultsConfirmatory factor analysis revealed that the 27 items on the VAPPP were distributed across four factors and that the first question, which assesses self-perceived dysphonia severity, was grouped separately. All the four subscales and total VAPPP have high internal consistency and test–retest reliability based on Cronbach's alpha coefficients and the intraclass correlation coefficient (ICC). Job effects (α = 0.85; ICC = 0.96), daily communication effects (α = 0.96; ICC = 0.83), social communication effects (α = 0.91; ICC = 0.93), emotional effects (α = 0.94; ICC = 0.76), and total score (α = 0.97; ICC = 0.88) are presented. VAPPP scores in patients with dysphonia were significantly different from those of the healthy control group (P < 0.001). The VAPPP total score has a high correlation to the Voice Handicap Index (r = 0.86; P < 0.001)ConclusionThe VAPPP is a reliable and valid tool for evaluating the quality of life of patients with dysphonia in Iran.
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Prevalence and Risk Factors of Self-reported Voice Problems Among Yakshagana Artists
Source:Journal of Voice
Author(s): Usha Devadas, Manisha Hegde, Santosh Maruthy
BackgroundYakshagana /jakʃaga:na/ is a form of folk theater of India. It is a blend of music, acting, dance, costume, dialogue, and stage techniques with an exclusive style and form. Even though Yakshagana artists (singers and actors) are professional voice users, no reports are available in the literature regarding the prevalence of voice problems (VPs) in these performers.AimThe current study investigated (a) the prevalence of self-reported VPs, (b) the different risk factors associated with the development of VPs, (c) the self-reported vocal health, and (d) the effect of VP on Yakshagana folk artists.MethodThis cross-sectional survey was conducted using a self-reported questionnaire. Data for the present study were obtained through convenience sampling by distributing 160 questionnaires to Yakshagana artists in and around Udupi /uɖupi/ and Mangaluru /maŋgalu:ru/ districts of Karnataka state, India. The results of the study are analyzed and discussed based on 129 eligible questionnaires.ResultsCareer prevalence of self-reported VPs in singers and actors were found to be 91.2% and 74%, respectively, with multiple symptoms of vocal attrition. Frequent throat clearing was found to have a significant association with actors reporting VPs. Around 55% of artists missed their work for 2–3 days or more with an average of 2.12 days (minimum of 1 day to maximum of 5 days).ConclusionsOverall, the results suggest that Yakshagana artists are at greater risk of developing VPs. Hence, there is a need for thorough understanding of factors influencing VPs and for educating the Yakshagana artists about voice care strategies.
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Mandarin (Simplified) Chinese Version of the Voice Activity and Participation Profile: Adaptation and Validation
Source:Journal of Voice
Author(s): Dan Lu, Estella P.-M. Ma, Jia Ren, Dai Pu, Hui Yang, Edwin M.-L. Yiu
ObjectiveThe purpose of this study was to evaluate the reliability and validity of the Mandarin (simplified) Chinese version of Voice Activity and Participation Profile (MC-VAPP) in mainland China.MethodsThis study enrolled 786 subjects from February 2015 to March 2017, including 456 individuals with voice disorders (dysphonic group) and 330 vocally healthy individuals (nondysphonic group). The internal consistency (Cronbach alpha coefficient), test-retest reliability (intraclass correlation coefficient [ICC]), and differences in the MC-VAPP scores were compared between the two groups. Exploratory factor analysis was performed. The receiver operating characteristic curve and cutoff point were calculated.ResultsThe MC-VAPP had a high internal consistency. Cronbach alpha coefficients for the subsection scores were from 0.86 and 0.96, with 0.98 for the total score. Test-retest reliability was high for the total score (ICC = 0.98). The four factors' cumulative contribution was determined to be 74.68%. The dysphonic participants displayed significantly higher total score and subsection scores than the nondysphonic participants (P < 0.001). There were significant differences in total activity limitation scores and the total participation restriction scores between the two groups (P < 0.001). The cutoff point for screening between the two groups was 36.5, with a sensitivity of 76.80% and specificity of 80.30%.ConclusionThe MC-VAPP is a reliable and valid instrument for the evaluation of voice-related quality of life in Chinese-speaking individuals. It is also recommended that the MC-VAPP would be a useful tool for screening individuals with and without voice disorders based on the cutoff value of 36.5.
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Unilateral Vocal Fold Paralysis in Parkinson Disease: Case Report and Review of the Literature
Source:Journal of Voice
Author(s): Abdul-Latif Hamdan, Elie Khalifee, Georges Tabet
ObjectiveThe objective of this study was to report the first case of unilateral vocal fold paralysis in a patient with Parkinson disease (PD) and to review the literature.MethodsThis is a case report and literature review following PubMed search using the keywords “Parkinson,” “vocal fold paralysis,” “vocal fold palsy,” “vocal fold immobility,” “vocal fold adductor palsy,” “airway obstruction,” and “stridor.”ResultsA total of 18 subjects diagnosed with PD and vocal fold paralysis were described. In all cases, the vocal fold paralysis was bilateral and the main presenting symptoms were stridor and shortness of breath necessitating intubation and tracheostomy. This article describes the first case of PD presenting with dysphonia secondary to unilateral vocal fold paralysis (left). The management consisted of injection laryngoplasty for medialization of the paralyzed vocal fold.ConclusionsPatients with PD can present with unilateral vocal fold paralysis. Early treatment is advocated in view of the advent of injection laryngoplasty as a safe office procedure.
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Five times sit-to-stand test in subjects with total knee replacement: reliability and relationship with functional mobility tests
Source:Gait & Posture
Author(s): Francesc Medina-Mirapeix, Iván Vivo-Fernández, Juan López-Cañizares, José A. García-Vidal, Josep Carles Benítez-Martínez, María Elena del Baño-Aledo
The objective was to determine the inter-observer and test/retest reliability of the “Five-repetition sit-to-stand” (5STS) test in patients with total knee replacement (TKR). To explore correlation between 5STS and two mobility tests. A reliability study was conducted among 24 (mean age 72.13, S.D. 10.67; 50% were women) outpatients with TKR. They were recruited from a traumatology unit of a public hospital via convenience sampling. A physiotherapist and trauma physician assessed each patient at the same time. The same physiotherapist realized a 5STS second measurement 45–60minutes after the first one. Reliability was assessed with intraclass correlation coefficients (ICCs) and Bland-Altman plots. Pearson coefficient was calculated to assess the correlation between 5STS, time up to go test (TUG) and four meters gait speed (4MGS). ICC for inter-observer and test-retest reliability of the 5STS were 0.998 (95% confidence interval [CI], 0.995-0.999) and 0.982 (95% CI, 0.959-0.992). Bland-Altman plot inter-observer showed limits between −0.82 and 1.06 with a mean of 0.11 and no heteroscedasticity within the data. Bland-Altman plot for test-retest showed the limits between 1.76 and 4.16, a mean of 1.20 and heteroscedasticity within the data. Pearson correlation coefficient revealed significant correlation between 5STS and TUG (r=0.7, p <0.001) and 4MGS (r=−0.583, p=0.003). This study demonstrates excellent inter-observer and test-retest reliability when it is used in people with TKR, and also significant correlation with other functional mobility tests. These findings support the use of 5STS as outcome measure in TKR population.
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Validity and reliability of an iPhone App to assess time, velocity and leg power during a sit-to-stand functional performance test
Source:Gait & Posture
Author(s): Juan Diego Ruiz-Cárdenas, Juan José Rodríguez-Juan, Rowan R. Smart, Jennifer M. Jakobi, Gareth R. Jones
The purposes of this study were: (i) Analyze the concurrent validity and reliability of an iPhone App for measuring time, velocity and power during a single sit-to-stand (STS) test compared with measurements recorded from a force plate; and (ii) Evaluate the relationship between the iPhone App measures with age and functional performance. Forty-eight healthy individuals (age range: 26-81 years) were recruited. All participants completed a STS test on a force plate with the movement recorded on an iPhone 6 at 240 frames-per-second. Functional ability was also measured using isometric handgrip strength and self-paced walking time tests. Intraclass correlation coefficients (ICC), Pearson’s correlation coefficient, Cronbach's alpha (α) and Bland-Altman plots with 95% confidence intervals (CI) were used to test validity and reliability between instruments. The results showed a good agreement between all STS measurement variables; time (ICC=0.864, 95%CI=0.77–0.92; α=0.926), velocity (ICC=0.912, 95%CI=0.85–0.95; α=0.953) and power (ICC=0.846, 95%CI=0.74–0.91; α=0.917) with no systematic bias between instruments for any variable analyzed. STS time, velocity and power derived from the iPhone App show moderate to strong associations with age (|r|=0.63 to 0.83) and handgrip strength (|r|=0.4 to 0.64) but not the walking test. The results of this study identify that this iPhone App is reliable for measuring STS and the derived values of time, velocity and power shows strong associations with age and handgrip strength.
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Five times sit-to-stand test in subjects with total knee replacement: reliability and relationship with functional mobility tests
Source:Gait & Posture
Author(s): Francesc Medina-Mirapeix, Iván Vivo-Fernández, Juan López-Cañizares, José A. García-Vidal, Josep Carles Benítez-Martínez, María Elena del Baño-Aledo
The objective was to determine the inter-observer and test/retest reliability of the “Five-repetition sit-to-stand” (5STS) test in patients with total knee replacement (TKR). To explore correlation between 5STS and two mobility tests. A reliability study was conducted among 24 (mean age 72.13, S.D. 10.67; 50% were women) outpatients with TKR. They were recruited from a traumatology unit of a public hospital via convenience sampling. A physiotherapist and trauma physician assessed each patient at the same time. The same physiotherapist realized a 5STS second measurement 45–60minutes after the first one. Reliability was assessed with intraclass correlation coefficients (ICCs) and Bland-Altman plots. Pearson coefficient was calculated to assess the correlation between 5STS, time up to go test (TUG) and four meters gait speed (4MGS). ICC for inter-observer and test-retest reliability of the 5STS were 0.998 (95% confidence interval [CI], 0.995-0.999) and 0.982 (95% CI, 0.959-0.992). Bland-Altman plot inter-observer showed limits between −0.82 and 1.06 with a mean of 0.11 and no heteroscedasticity within the data. Bland-Altman plot for test-retest showed the limits between 1.76 and 4.16, a mean of 1.20 and heteroscedasticity within the data. Pearson correlation coefficient revealed significant correlation between 5STS and TUG (r=0.7, p <0.001) and 4MGS (r=−0.583, p=0.003). This study demonstrates excellent inter-observer and test-retest reliability when it is used in people with TKR, and also significant correlation with other functional mobility tests. These findings support the use of 5STS as outcome measure in TKR population.
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Validity and reliability of an iPhone App to assess time, velocity and leg power during a sit-to-stand functional performance test
Source:Gait & Posture
Author(s): Juan Diego Ruiz-Cárdenas, Juan José Rodríguez-Juan, Rowan R. Smart, Jennifer M. Jakobi, Gareth R. Jones
The purposes of this study were: (i) Analyze the concurrent validity and reliability of an iPhone App for measuring time, velocity and power during a single sit-to-stand (STS) test compared with measurements recorded from a force plate; and (ii) Evaluate the relationship between the iPhone App measures with age and functional performance. Forty-eight healthy individuals (age range: 26-81 years) were recruited. All participants completed a STS test on a force plate with the movement recorded on an iPhone 6 at 240 frames-per-second. Functional ability was also measured using isometric handgrip strength and self-paced walking time tests. Intraclass correlation coefficients (ICC), Pearson’s correlation coefficient, Cronbach's alpha (α) and Bland-Altman plots with 95% confidence intervals (CI) were used to test validity and reliability between instruments. The results showed a good agreement between all STS measurement variables; time (ICC=0.864, 95%CI=0.77–0.92; α=0.926), velocity (ICC=0.912, 95%CI=0.85–0.95; α=0.953) and power (ICC=0.846, 95%CI=0.74–0.91; α=0.917) with no systematic bias between instruments for any variable analyzed. STS time, velocity and power derived from the iPhone App show moderate to strong associations with age (|r|=0.63 to 0.83) and handgrip strength (|r|=0.4 to 0.64) but not the walking test. The results of this study identify that this iPhone App is reliable for measuring STS and the derived values of time, velocity and power shows strong associations with age and handgrip strength.
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Five times sit-to-stand test in subjects with total knee replacement: reliability and relationship with functional mobility tests
Source:Gait & Posture
Author(s): Francesc Medina-Mirapeix, Iván Vivo-Fernández, Juan López-Cañizares, José A. García-Vidal, Josep Carles Benítez-Martínez, María Elena del Baño-Aledo
The objective was to determine the inter-observer and test/retest reliability of the “Five-repetition sit-to-stand” (5STS) test in patients with total knee replacement (TKR). To explore correlation between 5STS and two mobility tests. A reliability study was conducted among 24 (mean age 72.13, S.D. 10.67; 50% were women) outpatients with TKR. They were recruited from a traumatology unit of a public hospital via convenience sampling. A physiotherapist and trauma physician assessed each patient at the same time. The same physiotherapist realized a 5STS second measurement 45–60minutes after the first one. Reliability was assessed with intraclass correlation coefficients (ICCs) and Bland-Altman plots. Pearson coefficient was calculated to assess the correlation between 5STS, time up to go test (TUG) and four meters gait speed (4MGS). ICC for inter-observer and test-retest reliability of the 5STS were 0.998 (95% confidence interval [CI], 0.995-0.999) and 0.982 (95% CI, 0.959-0.992). Bland-Altman plot inter-observer showed limits between −0.82 and 1.06 with a mean of 0.11 and no heteroscedasticity within the data. Bland-Altman plot for test-retest showed the limits between 1.76 and 4.16, a mean of 1.20 and heteroscedasticity within the data. Pearson correlation coefficient revealed significant correlation between 5STS and TUG (r=0.7, p <0.001) and 4MGS (r=−0.583, p=0.003). This study demonstrates excellent inter-observer and test-retest reliability when it is used in people with TKR, and also significant correlation with other functional mobility tests. These findings support the use of 5STS as outcome measure in TKR population.
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Validity and reliability of an iPhone App to assess time, velocity and leg power during a sit-to-stand functional performance test
Source:Gait & Posture
Author(s): Juan Diego Ruiz-Cárdenas, Juan José Rodríguez-Juan, Rowan R. Smart, Jennifer M. Jakobi, Gareth R. Jones
The purposes of this study were: (i) Analyze the concurrent validity and reliability of an iPhone App for measuring time, velocity and power during a single sit-to-stand (STS) test compared with measurements recorded from a force plate; and (ii) Evaluate the relationship between the iPhone App measures with age and functional performance. Forty-eight healthy individuals (age range: 26-81 years) were recruited. All participants completed a STS test on a force plate with the movement recorded on an iPhone 6 at 240 frames-per-second. Functional ability was also measured using isometric handgrip strength and self-paced walking time tests. Intraclass correlation coefficients (ICC), Pearson’s correlation coefficient, Cronbach's alpha (α) and Bland-Altman plots with 95% confidence intervals (CI) were used to test validity and reliability between instruments. The results showed a good agreement between all STS measurement variables; time (ICC=0.864, 95%CI=0.77–0.92; α=0.926), velocity (ICC=0.912, 95%CI=0.85–0.95; α=0.953) and power (ICC=0.846, 95%CI=0.74–0.91; α=0.917) with no systematic bias between instruments for any variable analyzed. STS time, velocity and power derived from the iPhone App show moderate to strong associations with age (|r|=0.63 to 0.83) and handgrip strength (|r|=0.4 to 0.64) but not the walking test. The results of this study identify that this iPhone App is reliable for measuring STS and the derived values of time, velocity and power shows strong associations with age and handgrip strength.
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TMEM132: an ancient architecture of cohesin and immunoglobulin domains define a new family of neural adhesion molecules.
TMEM132: an ancient architecture of cohesin and immunoglobulin domains define a new family of neural adhesion molecules.
Bioinformatics. 2017 Oct 27;:
Authors: Sanchez-Pulido L, Ponting CP
Abstract
Summary: The molecular functions of TMEM132 genes remain poorly understood and under-investigated despite their mutations associated with non-syndromic hearing loss, panic disorder and cancer. Here we show the full domain architecture of human TMEM132 family proteins solved using in-depth sequence and structural analysis. We reveal them to be five previously unappreciated cell adhesion molecules whose domain architecture has an early holozoan origin prior to the emergence of choanoflagellates and metazoa. The extra-cellular portions of TMEM132 proteins contain five conserved domains including three tandem immunoglobulin domains, and a cohesin domain homologue, the first such domain found in animals. These findings strongly predict a cellular adhesion function for TMEM132 family, connecting the extracellular medium with the intracellular actin cytoskeleton.
Contact: Luis.Sanchez-Pulido@igmm.ed.ac.uk.
Supplementary information: Supplementary data are available at Bioinformatics online.
PMID: 29088312 [PubMed - as supplied by publisher]
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Genetic Testing of Non-familial Deaf Patients for CIB2 and GJB2 Mutations: Phenotype and Genetic Counselling.
Genetic Testing of Non-familial Deaf Patients for CIB2 and GJB2 Mutations: Phenotype and Genetic Counselling.
Biochem Genet. 2017 Oct 31;:
Authors: Shaikh H, Waryah AM, Narsani AK, Iqbal M, Shahzad M, Waryah YM, Shaikh N, Mahmood A
Abstract
CIB2 and GJB2 genes variants contribute significantly in familial cases of prelingual recessive hearing loss (HL). This study was aimed to determine the CIB2 and GJB2 variants and associated phenotype in 150 non-familial individuals with HL. After getting informed consent, 150 non-familial deaf patients were enrolled and blood samples were obtained for DNA extraction. Pure tone air conduction audiometry was performed. Coding exons of CIB2 and GJB2 genes were Sanger sequenced. A tetra primer ARMS assay was developed for recurrent CIB2 variant. Four bi-allelic GJB2 variants, c.71G>A p.(Trp24*), c.231G>A p.(Trp77*), c.235delC p.(Leu79Cysfs3*) and c.35delG p.(Gly11Leufs24*), were found in nine hearing impaired individuals. We also found four homozygotes and five carriers of c.380G>A p. (Arg127His) variant of controversial clinical significance. CIB2 sequencing revealed single recurrent variant c.272T>C p. (Phe91Ser) segregating with HL in ten individuals. Among our patients, c.71G>A (p.Trp24*) was the most common variant, accounted for 45% of GJB2 variants. Two known GJB2 variants, c.235delC p. (Leu79Cysfs3*) and c.310del14 p. (Lys105Argfs2*), are reported here for the first time in Pakistani population. Our data further support the benign nature of c.380G>A p. (Arg127His) variant. For CIB2, c.272T>C p. (Phe91Ser) is the second common cause of HL among our sporadic cases. Phenotypically, in our patients, individuals homozygous for GJB2 variants had profound HL, whereas CIB2 homozygotes had severe to profound prelingual HL. Our results suggest that GJB2 and CIB2 are common cause of HL in different Pakistani ethnicities.
PMID: 29086887 [PubMed - as supplied by publisher]
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Child Health in Elementary School Following California’s Paid Family Leave Program.
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Child Health in Elementary School Following California’s Paid Family Leave Program.
J Policy Anal Manage. 2017;36(4):790-827
Authors: Lichtman-Sadot S, Bell NP
Abstract
We evaluate changes in elementary school children health outcomes following the introduction of California’s Paid Family Leave (PFL) program, which provided parents with paid time off following the birth of a child. Our health outcomes--overweight, ADHD, and hearing-related problems--are characterized by diagnosis rates that only pick up during early elementary school. Moreover, our health outcomes have been found to be negatively linked with many potential implications of extended maternity leave--increased breastfeeding, prompt medical checkups at infancy, reduced prenatal stress, and reduced non-parental care during infancy. Using the Early Childhood Longitudinal Studies (ECLS) within a difference-in-differences framework, our results suggest improvements in health outcomes among California elementary school children following PFL’s introduction. Furthermore, the improvements are driven by children from less advantaged backgrounds, which is consistent with the notion that California’s PFL had the greatest effect on leave-taking duration after childbirth mostly for less advantaged mothers who previously could not afford to take unpaid leave.
PMID: 28991423 [PubMed - indexed for MEDLINE]
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Genetic counseling in CHARGE syndrome: Diagnostic evaluation through follow up.
Genetic counseling in CHARGE syndrome: Diagnostic evaluation through follow up.
Am J Med Genet C Semin Med Genet. 2017 Oct 31;:
Authors: Hefner MA, Fassi E
Abstract
CHARGE syndrome (CS) is a complex genetic disorder causing multiple birth defects and sensory deficits (hearing, vision, balance, smell). Genetic counseling in CS must include not only the provision of factual information about CS, its cause, and inheritance, but also information about the developmental implications of CS features, referral to appropriate resources, and assistance with psychosocial adaptation to this information. CS should be considered in patients with any of the major diagnostic features: coloboma, choanal atresia, semicircular canal anomalies, or cranial nerve anomalies. The prime candidates in the differential are 22q11.2 deletion and Kabuki syndromes. Evaluation of features of CS, dysmorphology examination, and genetic testing can usually distinguish between the three conditions. Genetic counseling is important from early on, to help the family understand the process of genetic diagnosis, to interpret information coming from other specialists and to provide support and resources. Parents can easily be overwhelmed with the complexity of issues facing their child at diagnosis and in the future. CS is a substantial burden on a child, with high early mortality, multiple illnesses, hospitalizations and surgeries, and apparent medical fragility throughout life. The medical complexity of CS disrupts family life and contributes to delayed development. Multiple sensory deficits (impaired vision, hearing, and balance) further contribute to delayed motor and language development despite many individuals with CS having normal intelligence. Early referral to specialists in deafblindness and sensory deficits is essential. Resources are available to assist genetic counselors in diagnosis, follow-up, and management of patients with CS.
PMID: 29088501 [PubMed - as supplied by publisher]
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Ribeye protein is intrinsically dynamic but is stabilized in the context of the ribbon synapse.
Ribeye protein is intrinsically dynamic but is stabilized in the context of the ribbon synapse.
J Physiol. 2017 Oct 31;:
Authors: Chen Z, Chou SW, McDermott BM
Abstract
Ribeye protein is a major constituent of the synaptic ribbon, an organelle that coordinates rapid and sustained vesicle release to enable hearing and balance. The ribbon is considered to be a stable structure. However, under certain physiological conditions such as acoustic overexposure that results in temporary noise-induced hearing loss or perturbations of ion channels, ribbons may change shape or vanish altogether, suggesting greater plasticity than previously appreciated. The dynamic properties of ribeye proteins are unknown. Here we use transgenesis and imaging to explore the behaviours of ribeye proteins within the ribbon and also their intrinsic properties outside the context of the ribbon synapse in a control cell type, the skin cell. By fluorescence recovery after photobleaching (FRAP) on transgenic zebrafish larvae, we test whether ribeye proteins are dynamic in vivo in real time. In the skin, a cell type devoid of synaptic contacts, Ribeye a-mCherry exchanges with ribbon-like structures on a minute timescale (t1/2 = 3.2 min). In contrast, Ribeye a of the ear and lateral line and Ribeye b of the lateral line each exchange at ribbons of hair cells an order of magnitude slower (t1/2 of 125.6 min, 107.0 min, and 95.3 min, respectively) than Ribeye a of the skin. These basal exchange rates suggest that long-term ribbon presence may require ribeye renewal. Our studies demonstrate that ribeye proteins are inherently dynamic but are stabilized at the ribbons of sensory cells in vivo. This article is protected by copyright. All rights reserved.
PMID: 29086422 [PubMed - as supplied by publisher]
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CIB2, defective in isolated deafness, is key for auditory hair cell mechanotransduction and survival.
CIB2, defective in isolated deafness, is key for auditory hair cell mechanotransduction and survival.
EMBO Mol Med. 2017 Oct 30;:
Authors: Michel V, Booth KT, Patni P, Cortese M, Azaiez H, Bahloul A, Kahrizi K, Labbé M, Emptoz A, Lelli A, Dégardin J, Dupont T, Aghaie A, Oficjalska-Pham D, Picaud S, Najmabadi H, Smith RJ, Bowl MR, Brown SD, Avan P, Petit C, El-Amraoui A
Abstract
Defects of CIB2, calcium- and integrin-binding protein 2, have been reported to cause isolated deafness, DFNB48 and Usher syndrome type-IJ, characterized by congenital profound deafness, balance defects and blindness. We report here two new nonsense mutations (pGln12* and pTyr110*) in CIB2 patients displaying nonsyndromic profound hearing loss, with no evidence of vestibular or retinal dysfunction. Also, the generated CIB2(-/-) mice display an early onset profound deafness and have normal balance and retinal functions. In these mice, the mechanoelectrical transduction currents are totally abolished in the auditory hair cells, whilst they remain unchanged in the vestibular hair cells. The hair bundle morphological abnormalities of CIB2(-/-) mice, unlike those of mice defective for the other five known USH1 proteins, begin only after birth and lead to regression of the stereocilia and rapid hair-cell death. This essential role of CIB2 in mechanotransduction and cell survival that, we show, is restricted to the cochlea, probably accounts for the presence in CIB2(-/-) mice and CIB2 patients, unlike in Usher syndrome, of isolated hearing loss without balance and vision deficits.
PMID: 29084757 [PubMed - as supplied by publisher]
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Genetic counseling in CHARGE syndrome: Diagnostic evaluation through follow up.
Genetic counseling in CHARGE syndrome: Diagnostic evaluation through follow up.
Am J Med Genet C Semin Med Genet. 2017 Oct 31;:
Authors: Hefner MA, Fassi E
Abstract
CHARGE syndrome (CS) is a complex genetic disorder causing multiple birth defects and sensory deficits (hearing, vision, balance, smell). Genetic counseling in CS must include not only the provision of factual information about CS, its cause, and inheritance, but also information about the developmental implications of CS features, referral to appropriate resources, and assistance with psychosocial adaptation to this information. CS should be considered in patients with any of the major diagnostic features: coloboma, choanal atresia, semicircular canal anomalies, or cranial nerve anomalies. The prime candidates in the differential are 22q11.2 deletion and Kabuki syndromes. Evaluation of features of CS, dysmorphology examination, and genetic testing can usually distinguish between the three conditions. Genetic counseling is important from early on, to help the family understand the process of genetic diagnosis, to interpret information coming from other specialists and to provide support and resources. Parents can easily be overwhelmed with the complexity of issues facing their child at diagnosis and in the future. CS is a substantial burden on a child, with high early mortality, multiple illnesses, hospitalizations and surgeries, and apparent medical fragility throughout life. The medical complexity of CS disrupts family life and contributes to delayed development. Multiple sensory deficits (impaired vision, hearing, and balance) further contribute to delayed motor and language development despite many individuals with CS having normal intelligence. Early referral to specialists in deafblindness and sensory deficits is essential. Resources are available to assist genetic counselors in diagnosis, follow-up, and management of patients with CS.
PMID: 29088501 [PubMed - as supplied by publisher]
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Ribeye protein is intrinsically dynamic but is stabilized in the context of the ribbon synapse.
Ribeye protein is intrinsically dynamic but is stabilized in the context of the ribbon synapse.
J Physiol. 2017 Oct 31;:
Authors: Chen Z, Chou SW, McDermott BM
Abstract
Ribeye protein is a major constituent of the synaptic ribbon, an organelle that coordinates rapid and sustained vesicle release to enable hearing and balance. The ribbon is considered to be a stable structure. However, under certain physiological conditions such as acoustic overexposure that results in temporary noise-induced hearing loss or perturbations of ion channels, ribbons may change shape or vanish altogether, suggesting greater plasticity than previously appreciated. The dynamic properties of ribeye proteins are unknown. Here we use transgenesis and imaging to explore the behaviours of ribeye proteins within the ribbon and also their intrinsic properties outside the context of the ribbon synapse in a control cell type, the skin cell. By fluorescence recovery after photobleaching (FRAP) on transgenic zebrafish larvae, we test whether ribeye proteins are dynamic in vivo in real time. In the skin, a cell type devoid of synaptic contacts, Ribeye a-mCherry exchanges with ribbon-like structures on a minute timescale (t1/2 = 3.2 min). In contrast, Ribeye a of the ear and lateral line and Ribeye b of the lateral line each exchange at ribbons of hair cells an order of magnitude slower (t1/2 of 125.6 min, 107.0 min, and 95.3 min, respectively) than Ribeye a of the skin. These basal exchange rates suggest that long-term ribbon presence may require ribeye renewal. Our studies demonstrate that ribeye proteins are inherently dynamic but are stabilized at the ribbons of sensory cells in vivo. This article is protected by copyright. All rights reserved.
PMID: 29086422 [PubMed - as supplied by publisher]
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CIB2, defective in isolated deafness, is key for auditory hair cell mechanotransduction and survival.
CIB2, defective in isolated deafness, is key for auditory hair cell mechanotransduction and survival.
EMBO Mol Med. 2017 Oct 30;:
Authors: Michel V, Booth KT, Patni P, Cortese M, Azaiez H, Bahloul A, Kahrizi K, Labbé M, Emptoz A, Lelli A, Dégardin J, Dupont T, Aghaie A, Oficjalska-Pham D, Picaud S, Najmabadi H, Smith RJ, Bowl MR, Brown SD, Avan P, Petit C, El-Amraoui A
Abstract
Defects of CIB2, calcium- and integrin-binding protein 2, have been reported to cause isolated deafness, DFNB48 and Usher syndrome type-IJ, characterized by congenital profound deafness, balance defects and blindness. We report here two new nonsense mutations (pGln12* and pTyr110*) in CIB2 patients displaying nonsyndromic profound hearing loss, with no evidence of vestibular or retinal dysfunction. Also, the generated CIB2(-/-) mice display an early onset profound deafness and have normal balance and retinal functions. In these mice, the mechanoelectrical transduction currents are totally abolished in the auditory hair cells, whilst they remain unchanged in the vestibular hair cells. The hair bundle morphological abnormalities of CIB2(-/-) mice, unlike those of mice defective for the other five known USH1 proteins, begin only after birth and lead to regression of the stereocilia and rapid hair-cell death. This essential role of CIB2 in mechanotransduction and cell survival that, we show, is restricted to the cochlea, probably accounts for the presence in CIB2(-/-) mice and CIB2 patients, unlike in Usher syndrome, of isolated hearing loss without balance and vision deficits.
PMID: 29084757 [PubMed - as supplied by publisher]
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