Τετάρτη 25 Ιανουαρίου 2017

Establishing Language Benchmarks for Children With Typically Developing Language and Children With Language Impairment

Purpose
Practitioners, researchers, and policymakers (i.e., stakeholders) have vested interests in children's language growth yet currently do not have empirically driven methods for measuring such outcomes. The present study established language benchmarks for children with typically developing language (TDL) and children with language impairment (LI) from 3 to 9 years of age.
Method
Effect sizes for grammar, vocabulary, and overall language were calculated for children with TDL (n = 20,018) using raw score means and standard deviations from 8 norm-referenced measures of language. Effect sizes for children with LI were calculated using fall and spring norm-referenced language measures for 497 children with LI receiving business-as-usual therapy in the public schools.
Results
Considerable variability was found in expected change across both samples of children over time, with preschoolers exhibiting larger effect sizes (d = 0.82 and 0.70, respectively) compared with school-age children (d = 0.49 and 0.55, respectively).
Conclusions
This study provides a first step toward establishing empirically based language benchmarks for children. These data offer stakeholders an initial tool for setting goals based on expected growth (practitioners), making informed decisions on language-based curricula (policymakers), and measuring effectiveness of intervention research (researchers).

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Tone Attrition in Mandarin Speakers of Varying English Proficiency

Purpose
The purpose of this study was to determine whether the degree of dominance of Mandarin–English bilinguals' languages affects phonetic processing of tone content in their native language, Mandarin.
Method
We tested 72 Mandarin–English bilingual college students with a range of language-dominance profiles in the 2 languages and ages of acquisition of English. Participants viewed 2 photographs at a time while hearing a familiar Mandarin word referring to 1 photograph. The names of the 2 photographs diverged in tone, vowels, or both. Word recognition was evaluated using clicking accuracy, reaction times, and an online recognition measure (gaze) and was compared in the 3 conditions.
Results
Relative proficiency in English was correlated with reduced word recognition success in tone-disambiguated trials, but not in vowel-disambiguated trials, across all 3 dependent measures. This selective attrition for tone content emerged even though all bilinguals had learned Mandarin from birth. Lengthy experience with English thus weakened tone use.
Conclusions
This finding has implications for the question of the extent to which bilinguals' 2 phonetic systems interact. It suggests that bilinguals may not process pitch information language-specifically and that processing strategies from the dominant language may affect phonetic processing in the nondominant language—even when the latter was learned natively.

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Assessing Vowel Centralization in Dysarthria: A Comparison of Methods

Purpose
The strength of the relationship between vowel centralization measures and perceptual ratings of dysarthria severity has varied considerably across reports. This article evaluates methods of acoustic-perceptual analysis to determine whether procedural changes can strengthen the association between these measures.
Method
Sixty-one speakers (17 healthy individuals and 44 speakers with dysarthria) read a standard passage. To obtain acoustic data, 2 points of formant extraction (midpoint and articulatory point) and 2 frequency measures (Hz and Bark) were trialed. Both vowel space area and an adapted formant centralization ratio were calculated using first and second formants of speakers' corner vowels. Twenty-eight listeners rated speech samples using different prompts: one with a focus on intelligibility, the other on speech precision.
Results
Perceptually, listener ratings of speech precision provided the best index of acoustic change. Acoustically, the combined use of an articulatory-based formant extraction point, Bark frequency units, and the formant centralization ratio was most effective in explaining perceptual ratings. This combination of procedures resulted in an increase of 17% to 27% explained variance between measures.
Conclusions
The procedures researchers use to assess articulatory impairment can significantly alter the strength of relationship between acoustic and perceptual measures. Procedures that maximize this relationship are recommended.

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Vocal Ergonomics in the Workplace: Heating, Ventilation, and Air-Conditioning Method Influences on Vocal Comfort and Function

Purpose
The purpose of this study was to examine the influence of the heating, ventilation, and air-conditioning method on voice function following a voicing task using ecologically valid offices, one with radiant HVAC and one with forced air.
Method
A total of 12 consented participants (6 women, 6 men) narrated a video in each of 4 environmental conditions in a within-between repeated-measures design. Acoustic data were collected with an ambulatory phonation monitor and perceived phonatory effort was determined following the voicing task. Data were analyzed using a within-between repeated-measures analysis of variance with significance set at α Results

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Establishing Language Benchmarks for Children With Typically Developing Language and Children With Language Impairment

Purpose
Practitioners, researchers, and policymakers (i.e., stakeholders) have vested interests in children's language growth yet currently do not have empirically driven methods for measuring such outcomes. The present study established language benchmarks for children with typically developing language (TDL) and children with language impairment (LI) from 3 to 9 years of age.
Method
Effect sizes for grammar, vocabulary, and overall language were calculated for children with TDL (n = 20,018) using raw score means and standard deviations from 8 norm-referenced measures of language. Effect sizes for children with LI were calculated using fall and spring norm-referenced language measures for 497 children with LI receiving business-as-usual therapy in the public schools.
Results
Considerable variability was found in expected change across both samples of children over time, with preschoolers exhibiting larger effect sizes (d = 0.82 and 0.70, respectively) compared with school-age children (d = 0.49 and 0.55, respectively).
Conclusions
This study provides a first step toward establishing empirically based language benchmarks for children. These data offer stakeholders an initial tool for setting goals based on expected growth (practitioners), making informed decisions on language-based curricula (policymakers), and measuring effectiveness of intervention research (researchers).

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Tone Attrition in Mandarin Speakers of Varying English Proficiency

Purpose
The purpose of this study was to determine whether the degree of dominance of Mandarin–English bilinguals' languages affects phonetic processing of tone content in their native language, Mandarin.
Method
We tested 72 Mandarin–English bilingual college students with a range of language-dominance profiles in the 2 languages and ages of acquisition of English. Participants viewed 2 photographs at a time while hearing a familiar Mandarin word referring to 1 photograph. The names of the 2 photographs diverged in tone, vowels, or both. Word recognition was evaluated using clicking accuracy, reaction times, and an online recognition measure (gaze) and was compared in the 3 conditions.
Results
Relative proficiency in English was correlated with reduced word recognition success in tone-disambiguated trials, but not in vowel-disambiguated trials, across all 3 dependent measures. This selective attrition for tone content emerged even though all bilinguals had learned Mandarin from birth. Lengthy experience with English thus weakened tone use.
Conclusions
This finding has implications for the question of the extent to which bilinguals' 2 phonetic systems interact. It suggests that bilinguals may not process pitch information language-specifically and that processing strategies from the dominant language may affect phonetic processing in the nondominant language—even when the latter was learned natively.

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Assessing Vowel Centralization in Dysarthria: A Comparison of Methods

Purpose
The strength of the relationship between vowel centralization measures and perceptual ratings of dysarthria severity has varied considerably across reports. This article evaluates methods of acoustic-perceptual analysis to determine whether procedural changes can strengthen the association between these measures.
Method
Sixty-one speakers (17 healthy individuals and 44 speakers with dysarthria) read a standard passage. To obtain acoustic data, 2 points of formant extraction (midpoint and articulatory point) and 2 frequency measures (Hz and Bark) were trialed. Both vowel space area and an adapted formant centralization ratio were calculated using first and second formants of speakers' corner vowels. Twenty-eight listeners rated speech samples using different prompts: one with a focus on intelligibility, the other on speech precision.
Results
Perceptually, listener ratings of speech precision provided the best index of acoustic change. Acoustically, the combined use of an articulatory-based formant extraction point, Bark frequency units, and the formant centralization ratio was most effective in explaining perceptual ratings. This combination of procedures resulted in an increase of 17% to 27% explained variance between measures.
Conclusions
The procedures researchers use to assess articulatory impairment can significantly alter the strength of relationship between acoustic and perceptual measures. Procedures that maximize this relationship are recommended.

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Vocal Ergonomics in the Workplace: Heating, Ventilation, and Air-Conditioning Method Influences on Vocal Comfort and Function

Purpose
The purpose of this study was to examine the influence of the heating, ventilation, and air-conditioning method on voice function following a voicing task using ecologically valid offices, one with radiant HVAC and one with forced air.
Method
A total of 12 consented participants (6 women, 6 men) narrated a video in each of 4 environmental conditions in a within-between repeated-measures design. Acoustic data were collected with an ambulatory phonation monitor and perceived phonatory effort was determined following the voicing task. Data were analyzed using a within-between repeated-measures analysis of variance with significance set at α Results

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Establishing Language Benchmarks for Children With Typically Developing Language and Children With Language Impairment

Purpose
Practitioners, researchers, and policymakers (i.e., stakeholders) have vested interests in children's language growth yet currently do not have empirically driven methods for measuring such outcomes. The present study established language benchmarks for children with typically developing language (TDL) and children with language impairment (LI) from 3 to 9 years of age.
Method
Effect sizes for grammar, vocabulary, and overall language were calculated for children with TDL (n = 20,018) using raw score means and standard deviations from 8 norm-referenced measures of language. Effect sizes for children with LI were calculated using fall and spring norm-referenced language measures for 497 children with LI receiving business-as-usual therapy in the public schools.
Results
Considerable variability was found in expected change across both samples of children over time, with preschoolers exhibiting larger effect sizes (d = 0.82 and 0.70, respectively) compared with school-age children (d = 0.49 and 0.55, respectively).
Conclusions
This study provides a first step toward establishing empirically based language benchmarks for children. These data offer stakeholders an initial tool for setting goals based on expected growth (practitioners), making informed decisions on language-based curricula (policymakers), and measuring effectiveness of intervention research (researchers).

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Tone Attrition in Mandarin Speakers of Varying English Proficiency

Purpose
The purpose of this study was to determine whether the degree of dominance of Mandarin–English bilinguals' languages affects phonetic processing of tone content in their native language, Mandarin.
Method
We tested 72 Mandarin–English bilingual college students with a range of language-dominance profiles in the 2 languages and ages of acquisition of English. Participants viewed 2 photographs at a time while hearing a familiar Mandarin word referring to 1 photograph. The names of the 2 photographs diverged in tone, vowels, or both. Word recognition was evaluated using clicking accuracy, reaction times, and an online recognition measure (gaze) and was compared in the 3 conditions.
Results
Relative proficiency in English was correlated with reduced word recognition success in tone-disambiguated trials, but not in vowel-disambiguated trials, across all 3 dependent measures. This selective attrition for tone content emerged even though all bilinguals had learned Mandarin from birth. Lengthy experience with English thus weakened tone use.
Conclusions
This finding has implications for the question of the extent to which bilinguals' 2 phonetic systems interact. It suggests that bilinguals may not process pitch information language-specifically and that processing strategies from the dominant language may affect phonetic processing in the nondominant language—even when the latter was learned natively.

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Assessing Vowel Centralization in Dysarthria: A Comparison of Methods

Purpose
The strength of the relationship between vowel centralization measures and perceptual ratings of dysarthria severity has varied considerably across reports. This article evaluates methods of acoustic-perceptual analysis to determine whether procedural changes can strengthen the association between these measures.
Method
Sixty-one speakers (17 healthy individuals and 44 speakers with dysarthria) read a standard passage. To obtain acoustic data, 2 points of formant extraction (midpoint and articulatory point) and 2 frequency measures (Hz and Bark) were trialed. Both vowel space area and an adapted formant centralization ratio were calculated using first and second formants of speakers' corner vowels. Twenty-eight listeners rated speech samples using different prompts: one with a focus on intelligibility, the other on speech precision.
Results
Perceptually, listener ratings of speech precision provided the best index of acoustic change. Acoustically, the combined use of an articulatory-based formant extraction point, Bark frequency units, and the formant centralization ratio was most effective in explaining perceptual ratings. This combination of procedures resulted in an increase of 17% to 27% explained variance between measures.
Conclusions
The procedures researchers use to assess articulatory impairment can significantly alter the strength of relationship between acoustic and perceptual measures. Procedures that maximize this relationship are recommended.

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Vocal Ergonomics in the Workplace: Heating, Ventilation, and Air-Conditioning Method Influences on Vocal Comfort and Function

Purpose
The purpose of this study was to examine the influence of the heating, ventilation, and air-conditioning method on voice function following a voicing task using ecologically valid offices, one with radiant HVAC and one with forced air.
Method
A total of 12 consented participants (6 women, 6 men) narrated a video in each of 4 environmental conditions in a within-between repeated-measures design. Acoustic data were collected with an ambulatory phonation monitor and perceived phonatory effort was determined following the voicing task. Data were analyzed using a within-between repeated-measures analysis of variance with significance set at α Results

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Stereotactic Radiosurgical Treatment of Glomus Jugulare Tumors.

Objective: Determine treatment outcomes of stereotactic radiosurgery (SRS) for glomus jugulare tumors (GJT), focusing on three-dimensional volume change and symptoms before and after SRS, as well as complications related to SRS. Study Design: Retrospective case review. Setting: Tertiary referral center. Patients: Thirty-eight patients treated with SRS between 2000 and 2015. Intervention: SRS treatment of GJT. Main Outcome Measures: The tumor volumes on pre- and posttreatment imaging were compared utilizing the Leskell GammaPlan treatment plan software to assess tumor progression. Pre- and posttreatment symptoms, Fisch classification, and complications were recorded. Results: The mean radiographic follow-up was 39.1 months. The mean dose-to-tumor margin was 13.2 Gy. The mean tumor size at treatment was 5.8 and 5.2 cm3 at last follow-up. Thirty-three patients had follow-up imaging suitable for analysis. When defining both 10 and 15% tumor size increases as significant, 27 (82%) and 29 (88%) tumors decreased in size or remained stable, respectively. For the seven tumors with documented pre-SRS growth, treatment success was 86%. The mean marginal dose for treatment success and failure were 13.2 and 13.7 Gy, respectively. Patients receiving a higher margin dose had a greater risk of tumor progression (p = 0.0277). Fisch classification did not impact tumor progression rate. Initial tumor volume had no significance on tumor response to SRS. Conclusions: SRS is an effective treatment option for GJT. Both initial tumor volume and Fisch classification did not impact tumor progression. There were no significant patient or lesion characteristics that distinguished treatment success and/or failure. Copyright (C) 2017 by Otology & Neurotology, Inc. Image copyright (C) 2010 Wolters Kluwer Health/Anatomical Chart Company

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Resorbable Mesh Cranioplasty Repair of Bilateral Cerebrospinal Fluid Leaks Following Pediatric Simultaneous Bilateral Auditory Brainstem Implant Surgery.

Objective: To present a child with cochlear nerve deficiency (CND) who received simultaneous bilateral simultaneous auditory brainstem implants (BS-ABI) and subsequently presented with bilateral cerebrospinal fluid (CSF) leaks unresponsive to standard treatments. To propose a novel rigid retrosigmoid cranioplasty for treating and preventing CSF leaks in children at high risk for this complication. Patient: A 3.5-year-old child with CND, vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities, coloboma, heart defect, atresia choanae, retarded growth and development, genital abnormality, and ear abnormality, Arnold Chiari malformation, previous treated tracheo-esophageal fistula underwent BS-ABI. Postoperatively, the child had recurrent bilateral retroauricular fluid collections. A standard revision procedure revealed breaches in the dural closure, migration of the auditory brainstem implantation (ABI) receiver stimulator on both sides and was unsuccessful in stopping the leak. Interventions: Bilateral repair with free fat grafting filling the craniectomy space and two absorbable meshes of poly-L-D-lactic (PLDL) acid stabilized with PLDL pins on the surrounding cranium, one to stabilize the fat graft and one to fix the ABI receiver stimulators inside the subperiosteal pockets. Main Outcome Measure: CSF leak recurrence, postoperative computed tomographic (CT) scans, intra- and postoperative simultaneous electrically evoked auditory brainstem responses (EABRs). Subjective and objective assessment of ABI function. Results: No postoperative CSF leaks at 60 days follow-up. EABRs and consistent behavioral responses obtained at initial mapping on both sides. Conclusions: The use of BS-ABI likely contributed to bilateral CSF leaks requiring revision surgeries in this child. Simultaneous bilateral craniotomies can put patients at risk for CSF leak. A novel cranioplasty technique employed finally proved successful in stopping the CSF leak in this case. Copyright (C) 2017 by Otology & Neurotology, Inc. Image copyright (C) 2010 Wolters Kluwer Health/Anatomical Chart Company

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Outcomes of the Suture "Pull-through" Technique for Repair of Lateral Skull Base CSF Fistula and Encephaloceles.

Objective: Describe the safety profile and surgical outcomes of a combined transmastoid-middle cranial fossa suture "pull through" technique for repair of lateral skull base defects. Study Design: Retrospective. Setting: Tertiary care hospital. Patients: Patients undergoing surgery for cerebrospinal fluid (CSF) fistula and/or encephalocele. Intervention: Combined transmastoid and middle fossa approach using suture pull-through technique. Main Outcome Measures: The primary outcome measures of interest were recurrence of CSF fistula or encephalocele, and postoperative air-bone gap. Results: Twenty-six patients were included; mean age at surgery was 60 +/- 14 years and 65% of patients were female. The majority of defects involved both the tegmen mastoideum and tympani (69%); multiple defects were present in 11 patients. Small craniotomy (2 x 3 cm) was performed and defects were repaired using composite grafts constructed with fascia, bone, and/or cartilage, and dural substitute affixed with suture. The suture tail was left long and passed from the middle fossa through the defect into the mastoid. At average follow-up of 8.3 months, no patients of recurrent CSF leak were noted. Significant improvements in both mean pure-tone average and air-bone gap were noted for the entire cohort (p = 0.04 and p = 0.02, respectively). Conclusion: A combined transmastoid-middle cranial fossa for the repair of lateral skull base CSF fistula and encephaloceles using the suture "pull-through" technique is efficacious and the complication profile is favorable. This method facilitates reliable placement of a composite graft in the center of lateral skull base defects through a small craniotomy that minimizes temporal lobe retraction. Copyright (C) 2017 by Otology & Neurotology, Inc. Image copyright (C) 2010 Wolters Kluwer Health/Anatomical Chart Company

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Functional implications of muscle co-contraction during gait in advanced age

Publication date: March 2017
Source:Gait & Posture, Volume 53
Author(s): Justine Lo, On-Yee Lo, Erin A. Olson, Daniel Habtemariam, Ikechukwu Iloputaife, Margaret M. Gagnon, Brad Manor, Lewis A. Lipsitz
Older adults often exhibit high levels of lower extremity muscle co-contraction, which may be the cause or effect of age-related impairments in gait and associated falls. Normal gait requires intact executive function and thus can be slowed by challenging executive resources available to the neuromuscular system through the performance of a dual task. We therefore investigated associations between lower limb co-contraction and gait characteristics under normal and dual task conditions in healthy older adults (85.4±5.9years). We hypothesized that greater co-contraction is associated with slower gait speed during dual task conditions that stress executive and attentional abilities. Co-contraction was quantified during different phases of the gait cycle using surface electromyography (EMG) signals obtained from the anterior tibialis and lateral gastrocnemius while walking at preferred speed during normal and dual task conditions. Variables included the time difference to complete the Trail Making Test A and B (ΔTMT) and gait measures during normal or dual task walking. Higher co-contraction levels during the swing phase of both normal and dual task walking were associated with longer ΔTMT (normal: R2=0.25, p=0.02; dual task: R2=0.27, p=0.01). Co-contraction was associated with gait measures during dual task walking only; greater co-contraction levels during stride and stance were associated with slower gait speed (stride: R2=0.38, p=0.04; stance: R2=0.38, p=0.04), and greater co-contraction during stride was associated with longer stride time (R2=0.16, p=0.03). Our results suggest that relatively high lower limb co-contraction may explain some of the mobility impairments associated with the conduct of executive tasks in older adults.



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Functional implications of muscle co-contraction during gait in advanced age

Publication date: March 2017
Source:Gait & Posture, Volume 53
Author(s): Justine Lo, On-Yee Lo, Erin A. Olson, Daniel Habtemariam, Ikechukwu Iloputaife, Margaret M. Gagnon, Brad Manor, Lewis A. Lipsitz
Older adults often exhibit high levels of lower extremity muscle co-contraction, which may be the cause or effect of age-related impairments in gait and associated falls. Normal gait requires intact executive function and thus can be slowed by challenging executive resources available to the neuromuscular system through the performance of a dual task. We therefore investigated associations between lower limb co-contraction and gait characteristics under normal and dual task conditions in healthy older adults (85.4±5.9years). We hypothesized that greater co-contraction is associated with slower gait speed during dual task conditions that stress executive and attentional abilities. Co-contraction was quantified during different phases of the gait cycle using surface electromyography (EMG) signals obtained from the anterior tibialis and lateral gastrocnemius while walking at preferred speed during normal and dual task conditions. Variables included the time difference to complete the Trail Making Test A and B (ΔTMT) and gait measures during normal or dual task walking. Higher co-contraction levels during the swing phase of both normal and dual task walking were associated with longer ΔTMT (normal: R2=0.25, p=0.02; dual task: R2=0.27, p=0.01). Co-contraction was associated with gait measures during dual task walking only; greater co-contraction levels during stride and stance were associated with slower gait speed (stride: R2=0.38, p=0.04; stance: R2=0.38, p=0.04), and greater co-contraction during stride was associated with longer stride time (R2=0.16, p=0.03). Our results suggest that relatively high lower limb co-contraction may explain some of the mobility impairments associated with the conduct of executive tasks in older adults.



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Functional implications of muscle co-contraction during gait in advanced age

Publication date: March 2017
Source:Gait & Posture, Volume 53
Author(s): Justine Lo, On-Yee Lo, Erin A. Olson, Daniel Habtemariam, Ikechukwu Iloputaife, Margaret M. Gagnon, Brad Manor, Lewis A. Lipsitz
Older adults often exhibit high levels of lower extremity muscle co-contraction, which may be the cause or effect of age-related impairments in gait and associated falls. Normal gait requires intact executive function and thus can be slowed by challenging executive resources available to the neuromuscular system through the performance of a dual task. We therefore investigated associations between lower limb co-contraction and gait characteristics under normal and dual task conditions in healthy older adults (85.4±5.9years). We hypothesized that greater co-contraction is associated with slower gait speed during dual task conditions that stress executive and attentional abilities. Co-contraction was quantified during different phases of the gait cycle using surface electromyography (EMG) signals obtained from the anterior tibialis and lateral gastrocnemius while walking at preferred speed during normal and dual task conditions. Variables included the time difference to complete the Trail Making Test A and B (ΔTMT) and gait measures during normal or dual task walking. Higher co-contraction levels during the swing phase of both normal and dual task walking were associated with longer ΔTMT (normal: R2=0.25, p=0.02; dual task: R2=0.27, p=0.01). Co-contraction was associated with gait measures during dual task walking only; greater co-contraction levels during stride and stance were associated with slower gait speed (stride: R2=0.38, p=0.04; stance: R2=0.38, p=0.04), and greater co-contraction during stride was associated with longer stride time (R2=0.16, p=0.03). Our results suggest that relatively high lower limb co-contraction may explain some of the mobility impairments associated with the conduct of executive tasks in older adults.



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Adenovirus Vectors Target Several Cell Subtypes of Mammalian Inner Ear In Vivo.

Related Articles

Adenovirus Vectors Target Several Cell Subtypes of Mammalian Inner Ear In Vivo.

Neural Plast. 2016;2016:9409846

Authors: Shu Y, Tao Y, Li W, Shen J, Wang Z, Chen ZY

Abstract
Mammalian inner ear harbors diverse cell types that are essential for hearing and balance. Adenovirus is one of the major vectors to deliver genes into the inner ear for functional studies and hair cell regeneration. To identify adenovirus vectors that target specific cell subtypes in the inner ear, we studied three adenovirus vectors, carrying a reporter gene encoding green fluorescent protein (GFP) from two vendors or with a genome editing gene Cre recombinase (Cre), by injection into postnatal days 0 (P0) and 4 (P4) mouse cochlea through scala media by cochleostomy in vivo. We found three adenovirus vectors transduced mouse inner ear cells with different specificities and expression levels, depending on the type of adenoviral vectors and the age of mice. The most frequently targeted region was the cochlear sensory epithelium, including auditory hair cells and supporting cells. Adenovirus with GFP transduced utricular supporting cells as well. This study shows that adenovirus vectors are capable of efficiently and specifically transducing different cell types in the mammalian inner ear and provides useful tools to study inner ear gene function and to evaluate gene therapy to treat hearing loss and vestibular dysfunction.

PMID: 28116172 [PubMed - in process]



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Massively Parallel Sequencing of a Chinese Family with DFNA9 Identified a Novel Missense Mutation in the LCCL Domain of COCH.

Related Articles

Massively Parallel Sequencing of a Chinese Family with DFNA9 Identified a Novel Missense Mutation in the LCCL Domain of COCH.

Neural Plast. 2016;2016:5310192

Authors: Gu X, Su W, Tang M, Guo L, Zhao L, Li H

Abstract
DFNA9 is a late-onset, progressive, autosomal dominantly inherited sensorineural hearing loss with vestibular dysfunction, which is caused by mutations in the COCH (coagulation factor C homology) gene. In this study, we investigated a Chinese family segregating autosomal dominant nonsyndromic sensorineural hearing loss. We identified a missense mutation c.T275A p.V92D in the LCCL domain of COCH cosegregating with the disease and absent in 100 normal hearing controls. This mutation leads to substitution of the hydrophobic valine to an acidic amino acid aspartic acid. Our data enriched the mutation spectrum of DFNA9 and implied the importance for mutation screening of COCH in age related hearing loss with vestibular dysfunctions.

PMID: 28116169 [PubMed - in process]



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Neurotological findings after electrical injury at the workplace.

Neurotological findings after electrical injury at the workplace.

Laryngoscope. 2017 Jan 24;:

Authors: Wuesthoff C, Ilan O, Rutka JA

Abstract
OBJECTIVES/HYPOTHESIS: Neurotological findings secondary to electrical injuries have rarely been reported in the world literature. We attempt to characterize the neurotological findings following electrical injury and to determine the role head injury and loss of consciousness play in this population's clinical presentation.
STUDY DESIGN: Retrospective cohort study.
METHODS: A database containing 3,438 patients with work-related injuries was scanned for individuals who sustained and survived electrical injuries at work. Detailed analysis of the frequencies of presenting features and test results was performed. A comparative analysis was made between the subsets of patients with and without loss of consciousness and/or head injury.
RESULTS: A cohort of 42 patients was identified. All patients had multiple symptoms. Dizziness was a significant complaint in all workers with electrical injuries. Other common complaints included tinnitus and imbalance. Characterization of these symptoms is provided in detail according to statistical frequency. In this cohort, 25 workers had a concomitant head injury and 17 workers had an associated loss of consciousness. There was no statistically significant difference when clinical presentation, examination, and balance testing results were compared between the subsets.
CONCLUSIONS: Frequency and characterization of symptoms following electrical injury are provided. Dizziness is the most common presenting neurotological feature. Loss of consciousness and/or associated head injury do not affect the clinical presentation in this particular population.
LEVEL OF EVIDENCE: 2b. Laryngoscope, 2017.

PMID: 28117879 [PubMed - as supplied by publisher]



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Validation of the Penn Acoustic Neuroma Quality-of-Life Scale (PANQOL) for Spanish-Speaking Patients.

Validation of the Penn Acoustic Neuroma Quality-of-Life Scale (PANQOL) for Spanish-Speaking Patients.

Otolaryngol Head Neck Surg. 2017 Jan 01;:194599816688640

Authors: Medina MD, Carrillo A, Polo R, Fernandez B, Alonso D, Vaca M, Cordero A, Perez C, Muriel A, Cobeta I

Abstract
Objective To perform translation, cross-cultural adaptation, and validation of the Penn Acoustic Neuroma Quality-of-Life Scale (PANQOL) to the Spanish language. Study Design Prospective study. Setting Tertiary neurotologic referral center. Subjects and Methods PANQOL was translated and translated back, and a pretest trial was performed. The study included 27 individuals diagnosed with vestibular schwannoma. Inclusion criteria were adults with untreated vestibular schwannoma, diagnosed in the past 12 months. Feasibility, internal consistency, test-retest reliability, construct validity, and ceiling and floor effects were assessed for the present study. Results The mean overall score of the PANQOL was 69.21 (0-100 scale, lowest to highest quality of life). Cronbach's α was 0.87. Intraclass correlation coefficient was performed for each item, with an overall score of 0.92. The κ coefficient scores were between moderate and almost perfect in more than 92% of patients. Anxiety and energy domains of the PANQOL were correlated with both physical and mental components of the SF-12. Hearing, balance, and pain domains were correlated with the SF-12 physical component. Facial and general domains were not significantly correlated with any component of the SF-12. Furthermore, the overall score of the PANQOL was correlated with the physical component of the SF-12. Conclusion Feasibility, internal consistency, reliability, and construct validity outcomes in the current study support the validity of the Spanish version of the PANQOL.

PMID: 28116984 [PubMed - as supplied by publisher]



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Adenovirus Vectors Target Several Cell Subtypes of Mammalian Inner Ear In Vivo.

Related Articles

Adenovirus Vectors Target Several Cell Subtypes of Mammalian Inner Ear In Vivo.

Neural Plast. 2016;2016:9409846

Authors: Shu Y, Tao Y, Li W, Shen J, Wang Z, Chen ZY

Abstract
Mammalian inner ear harbors diverse cell types that are essential for hearing and balance. Adenovirus is one of the major vectors to deliver genes into the inner ear for functional studies and hair cell regeneration. To identify adenovirus vectors that target specific cell subtypes in the inner ear, we studied three adenovirus vectors, carrying a reporter gene encoding green fluorescent protein (GFP) from two vendors or with a genome editing gene Cre recombinase (Cre), by injection into postnatal days 0 (P0) and 4 (P4) mouse cochlea through scala media by cochleostomy in vivo. We found three adenovirus vectors transduced mouse inner ear cells with different specificities and expression levels, depending on the type of adenoviral vectors and the age of mice. The most frequently targeted region was the cochlear sensory epithelium, including auditory hair cells and supporting cells. Adenovirus with GFP transduced utricular supporting cells as well. This study shows that adenovirus vectors are capable of efficiently and specifically transducing different cell types in the mammalian inner ear and provides useful tools to study inner ear gene function and to evaluate gene therapy to treat hearing loss and vestibular dysfunction.

PMID: 28116172 [PubMed - in process]



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Neurotological findings after electrical injury at the workplace.

Neurotological findings after electrical injury at the workplace.

Laryngoscope. 2017 Jan 24;:

Authors: Wuesthoff C, Ilan O, Rutka JA

Abstract
OBJECTIVES/HYPOTHESIS: Neurotological findings secondary to electrical injuries have rarely been reported in the world literature. We attempt to characterize the neurotological findings following electrical injury and to determine the role head injury and loss of consciousness play in this population's clinical presentation.
STUDY DESIGN: Retrospective cohort study.
METHODS: A database containing 3,438 patients with work-related injuries was scanned for individuals who sustained and survived electrical injuries at work. Detailed analysis of the frequencies of presenting features and test results was performed. A comparative analysis was made between the subsets of patients with and without loss of consciousness and/or head injury.
RESULTS: A cohort of 42 patients was identified. All patients had multiple symptoms. Dizziness was a significant complaint in all workers with electrical injuries. Other common complaints included tinnitus and imbalance. Characterization of these symptoms is provided in detail according to statistical frequency. In this cohort, 25 workers had a concomitant head injury and 17 workers had an associated loss of consciousness. There was no statistically significant difference when clinical presentation, examination, and balance testing results were compared between the subsets.
CONCLUSIONS: Frequency and characterization of symptoms following electrical injury are provided. Dizziness is the most common presenting neurotological feature. Loss of consciousness and/or associated head injury do not affect the clinical presentation in this particular population.
LEVEL OF EVIDENCE: 2b. Laryngoscope, 2017.

PMID: 28117879 [PubMed - as supplied by publisher]



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Validation of the Penn Acoustic Neuroma Quality-of-Life Scale (PANQOL) for Spanish-Speaking Patients.

Validation of the Penn Acoustic Neuroma Quality-of-Life Scale (PANQOL) for Spanish-Speaking Patients.

Otolaryngol Head Neck Surg. 2017 Jan 01;:194599816688640

Authors: Medina MD, Carrillo A, Polo R, Fernandez B, Alonso D, Vaca M, Cordero A, Perez C, Muriel A, Cobeta I

Abstract
Objective To perform translation, cross-cultural adaptation, and validation of the Penn Acoustic Neuroma Quality-of-Life Scale (PANQOL) to the Spanish language. Study Design Prospective study. Setting Tertiary neurotologic referral center. Subjects and Methods PANQOL was translated and translated back, and a pretest trial was performed. The study included 27 individuals diagnosed with vestibular schwannoma. Inclusion criteria were adults with untreated vestibular schwannoma, diagnosed in the past 12 months. Feasibility, internal consistency, test-retest reliability, construct validity, and ceiling and floor effects were assessed for the present study. Results The mean overall score of the PANQOL was 69.21 (0-100 scale, lowest to highest quality of life). Cronbach's α was 0.87. Intraclass correlation coefficient was performed for each item, with an overall score of 0.92. The κ coefficient scores were between moderate and almost perfect in more than 92% of patients. Anxiety and energy domains of the PANQOL were correlated with both physical and mental components of the SF-12. Hearing, balance, and pain domains were correlated with the SF-12 physical component. Facial and general domains were not significantly correlated with any component of the SF-12. Furthermore, the overall score of the PANQOL was correlated with the physical component of the SF-12. Conclusion Feasibility, internal consistency, reliability, and construct validity outcomes in the current study support the validity of the Spanish version of the PANQOL.

PMID: 28116984 [PubMed - as supplied by publisher]



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via IFTTT

Adenovirus Vectors Target Several Cell Subtypes of Mammalian Inner Ear In Vivo.

Related Articles

Adenovirus Vectors Target Several Cell Subtypes of Mammalian Inner Ear In Vivo.

Neural Plast. 2016;2016:9409846

Authors: Shu Y, Tao Y, Li W, Shen J, Wang Z, Chen ZY

Abstract
Mammalian inner ear harbors diverse cell types that are essential for hearing and balance. Adenovirus is one of the major vectors to deliver genes into the inner ear for functional studies and hair cell regeneration. To identify adenovirus vectors that target specific cell subtypes in the inner ear, we studied three adenovirus vectors, carrying a reporter gene encoding green fluorescent protein (GFP) from two vendors or with a genome editing gene Cre recombinase (Cre), by injection into postnatal days 0 (P0) and 4 (P4) mouse cochlea through scala media by cochleostomy in vivo. We found three adenovirus vectors transduced mouse inner ear cells with different specificities and expression levels, depending on the type of adenoviral vectors and the age of mice. The most frequently targeted region was the cochlear sensory epithelium, including auditory hair cells and supporting cells. Adenovirus with GFP transduced utricular supporting cells as well. This study shows that adenovirus vectors are capable of efficiently and specifically transducing different cell types in the mammalian inner ear and provides useful tools to study inner ear gene function and to evaluate gene therapy to treat hearing loss and vestibular dysfunction.

PMID: 28116172 [PubMed - in process]



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