The Impact of Electrode Array Length on Hearing Preservation in Cochlear Implantation.

Objective: The aim of the study was to determine the degree of hearing preservation (HP) and its relation to electrode array length after cochlear implantation using different thin flexible electrode arrays (TFEA). Study Design: Retrospective analysis. Intervention: One hundred twenty adult patients with preoperative residual hearing received a cochlear implant with a TFEA: 46 received a TFEA20, 34 a TFEA24, and 40 a TFEA28 mm. Main Outcome Measures: Pure-tone audiometry (125-1500 Hz) was performed preoperatively, at initial fitting, and at 3, 6, and 12 months postoperatively. Median hearing loss (HL) was determined for each of the three array groups. The pre- to postoperative pure-tone average difference was scaled into three groups (15 to 30 dB) for array group. Results: At initial fitting, median HL of 17.5 dB (TFEA20), 20 dB (TFEA24), and 24 dB (TFEA28) was observed. At 12 months, medial HL of 15 dB (TFEA20), 19.4 dB (TFEA24), and 32.5 dB (TFEA28) was observed. At initial fitting, a HL of

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Stapedotomy With Adipose Tissue Seal: Hearing Outcomes, Incidence of Sensorineural Hearing Loss, and Comparison to Alternative Techniques.

Objective: To evaluate hearing outcomes and incidence of sensorineural hearing loss (SNHL) after stapedotomy with adipose tissue seal, and to compare adipose tissue sealing with alternative techniques. Study Design: Retrospective chart review. Setting: Tertiary referral center. Patients: Primary stapedotomy was performed in 179 patients using a KTP laser, microdrill, piston prosthesis, and adipose tissue seal of the oval window fenestra between 1991 and 2015. An additional 123 patients underwent stapes surgery with alternative techniques. Interventions: Stapes surgery for otosclerosis. Audiograms were performed preoperatively and 3 months postoperatively. Main Outcome Measures: Hearing outcomes were measured as percentage of cases with closure of the air-bone gap (ABG) to within 10 and 15 dB. SNHL was identified as cases with decrement in bone conduction thresholds greater than 10 or 5 dB. The median postoperative ABG and change in bone conduction thresholds were compared between the primary stapedotomy group (KTP laser with adipose tissue seal) and various subgroups with alternative techniques. Results: We found excellent hearing outcomes after primary stapedotomy with adipose tissue seal. The ABG closed to within 10 dB in 81.01% of cases and within 15 dB in 93.30% of cases. We observed a low rate of SNHL without any cases of profound hearing loss. 1.67% of cases had a decrement in bone conduction greater than 10 dB while 6.14% of cases had a decrement greater than 5 dB. Stapedotomy with adipose tissue seal compared favorably with alternative techniques with respect to hearing outcomes and SNHL. Conclusions: Adipose tissue is an effective and cost-efficient tissue seal during stapedotomy with excellent hearing outcomes and low incidence of SNHL. Copyright (C) 2016 by Otology & Neurotology, Inc. Image copyright (C) 2010 Wolters Kluwer Health/Anatomical Chart Company

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Temporal Lobe Gliosarcoma After Gamma Knife Radiosurgery for Vestibular Schwannoma.

Objective: Secondary tumorigenesis after exposure to ionizing radiation is a well-described phenomenon. The probability of developing a malignancy after stereotactic radiosurgery (SRS) is theoretically less than conventional external beam radiation therapy; however, the exact risk remains unknown. Such information is important for patient counseling when considering treatment of benign conditions such as vestibular schwannoma (VS). The objective of the current report is to describe a case of a temporal lobe gliosarcoma developing 3 years after radiosurgical treatment of a sporadic VS. Setting: Tertiary academic referral center. Patient: A 54-year-old man was diagnosed with a left-sided 1.6 cm cerebellopontine angle mass, consistent with VS. After reviewing treatment options, the patient proceeded with radiosurgery, and a tumor volume of 2.4 cm3 was treated with a marginal dose of 12.5 Gy prescribed to the 50% isodose line. Results: Serial magnetic resonance imaging (MRI) revealed good treatment response, demonstrated by central necrosis and tumor shrinkage. However, 3 years after treatment, the patient presented to the emergency department for a month long history of progressive word finding difficulties. Imaging revealed a 5 cm temporal lobe mass consistent with a high-grade glial neoplasm. He subsequently underwent stereotactic resection and final pathology confirmed World Health Organization Grade IV gliosarcoma. Conclusion: De novo malignancy after radiosurgery for VS is rare. We present only the second case of a gliosarcoma arising within the low-dose radiation field of the radiosurgery treatment plan. Some of the challenges of establishing causality between radiation treatment and secondary tumor development are discussed. The reporting of malignancy after radiation therapy, and even microsurgery, warrants continued vigilance. Copyright (C) 2016 by Otology & Neurotology, Inc. Image copyright (C) 2010 Wolters Kluwer Health/Anatomical Chart Company

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Development of Auxiliaries in Young Children Learning African American English

Purpose

We examined language samples of young children learning African American English (AAE) to determine if and when their use of auxiliaries shows dialect-universal and dialect-specific effects.

Method

The data were longitudinal language samples obtained from two children, ages 18 to 36 months, and three children, ages 33 to 51 months. Dialect-universal analyses examined age of first form and early uses of BE, DO, and modal auxiliaries. Dialect-specific analyses focused on rates of overt marking by auxiliary type and syntactic construction and for BE by surface form and succeeding element.

Results

Initial production of auxiliaries occurred between 19 and 24 months. The children's forms were initially restricted and produced in syntactically simple constructions. Over time, they were expanded in ways that showed their rates of marking to vary by auxiliary type, their rates of BE and DO marking to vary by syntactic construction, and their rates of BE marking to vary by surface form and succeeding element.

Conclusions

Development of auxiliaries by young children learning AAE shows both dialect-universal and dialect-specific effects. The findings are presented within a development chart to guide clinicians in the assessment of children learning AAE and in the treatment of AAE-speaking children with language impairment.

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Development of Auxiliaries in Young Children Learning African American English

Purpose

We examined language samples of young children learning African American English (AAE) to determine if and when their use of auxiliaries shows dialect-universal and dialect-specific effects.

Method

The data were longitudinal language samples obtained from two children, ages 18 to 36 months, and three children, ages 33 to 51 months. Dialect-universal analyses examined age of first form and early uses of BE, DO, and modal auxiliaries. Dialect-specific analyses focused on rates of overt marking by auxiliary type and syntactic construction and for BE by surface form and succeeding element.

Results

Initial production of auxiliaries occurred between 19 and 24 months. The children's forms were initially restricted and produced in syntactically simple constructions. Over time, they were expanded in ways that showed their rates of marking to vary by auxiliary type, their rates of BE and DO marking to vary by syntactic construction, and their rates of BE marking to vary by surface form and succeeding element.

Conclusions

Development of auxiliaries by young children learning AAE shows both dialect-universal and dialect-specific effects. The findings are presented within a development chart to guide clinicians in the assessment of children learning AAE and in the treatment of AAE-speaking children with language impairment.

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Development of Auxiliaries in Young Children Learning African American English

Purpose

We examined language samples of young children learning African American English (AAE) to determine if and when their use of auxiliaries shows dialect-universal and dialect-specific effects.

Method

The data were longitudinal language samples obtained from two children, ages 18 to 36 months, and three children, ages 33 to 51 months. Dialect-universal analyses examined age of first form and early uses of BE, DO, and modal auxiliaries. Dialect-specific analyses focused on rates of overt marking by auxiliary type and syntactic construction and for BE by surface form and succeeding element.

Results

Initial production of auxiliaries occurred between 19 and 24 months. The children's forms were initially restricted and produced in syntactically simple constructions. Over time, they were expanded in ways that showed their rates of marking to vary by auxiliary type, their rates of BE and DO marking to vary by syntactic construction, and their rates of BE marking to vary by surface form and succeeding element.

Conclusions

Development of auxiliaries by young children learning AAE shows both dialect-universal and dialect-specific effects. The findings are presented within a development chart to guide clinicians in the assessment of children learning AAE and in the treatment of AAE-speaking children with language impairment.

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Comment on Two-port network analysis and modeling of a balanced armature receiver

Publication date: Available online 16 June 2016
Source:Hearing Research
Author(s): Antoine Bernier, Philippe Herzog, Jérémie Voix




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A Combination of Two Truncating Mutations in USH2A causes more Severe and Progressive Hearing Impairment in Usher syndrome type IIa

Publication date: Available online 16 June 2016
Source:Hearing Research
Author(s): Bas P. Hartel, Maria Löfgren, Patrick L.M. Huygen, Iris Guchelaar, Nicole Lo-A-Njoe Kort, Andre M. Sadeghi, Erwin van Wijk, Lisbeth Tranebjærg, Hannie Kremer, William J. Kimberling, Cor W.R.J. Cremers, Claes Möller, Ronald J.E. Pennings
ObjectivesUsher syndrome is an inherited disorder that is characterized by hearing impairment (HI), retinitis pigmentosa, and in some cases vestibular dysfunction. Usher syndrome type IIa is caused by mutations in USH2A. HI in these patients is highly heterogeneous and the present study evaluates the effects of different types of USH2A mutations on the audiometric phenotype. Data from two large centres of expertise on Usher Syndrome in the Netherlands and Sweden were combined in order to create a large combined sample of patients to identify possible genotype-phenotype correlations.DesignA retrospective study on HI in 110 patients (65 Dutch and 45 Swedish) genetically diagnosed with Usher syndrome type IIa. We used methods especially designed for characterizing and testing differences in audiological phenotype between patient subgroups. These methods included Age Related Typical Audiograms (ARTA) and a method to evaluate the difference in the degree of HI developed throughout life between subgroups.ResultsCross-sectional linear regression analysis of last-visit audiograms for the best hearing ear demonstrated a gradual decline of hearing over decades. The congenital level of HI was in the range of 16-33 dB at 0.25-0.5 kHz, and in the range of 51-60 dB at 1-8 kHz. The annual threshold deterioration was in the range of 0.4-0.5 dB/year at 0.25-2 kHz and in the range of 0.7-0.8 dB/year at 4-8 kHz. Patients with two truncating mutations, including homozygotes for the common c.2299delG mutation, developed significantly more severe HI throughout life than patients with one truncating mutation combined with one nontruncating mutation, and patients with two nontruncating mutations.ConclusionsThe results have direct implications for patient counselling in terms of prognosis of hearing and may serve as baseline measures for future (genetic) therapeutic interventions.



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Comment on Two-port network analysis and modeling of a balanced armature receiver

Publication date: Available online 16 June 2016
Source:Hearing Research
Author(s): Antoine Bernier, Philippe Herzog, Jérémie Voix




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A Combination of Two Truncating Mutations in USH2A causes more Severe and Progressive Hearing Impairment in Usher syndrome type IIa

Publication date: Available online 16 June 2016
Source:Hearing Research
Author(s): Bas P. Hartel, Maria Löfgren, Patrick L.M. Huygen, Iris Guchelaar, Nicole Lo-A-Njoe Kort, Andre M. Sadeghi, Erwin van Wijk, Lisbeth Tranebjærg, Hannie Kremer, William J. Kimberling, Cor W.R.J. Cremers, Claes Möller, Ronald J.E. Pennings
ObjectivesUsher syndrome is an inherited disorder that is characterized by hearing impairment (HI), retinitis pigmentosa, and in some cases vestibular dysfunction. Usher syndrome type IIa is caused by mutations in USH2A. HI in these patients is highly heterogeneous and the present study evaluates the effects of different types of USH2A mutations on the audiometric phenotype. Data from two large centres of expertise on Usher Syndrome in the Netherlands and Sweden were combined in order to create a large combined sample of patients to identify possible genotype-phenotype correlations.DesignA retrospective study on HI in 110 patients (65 Dutch and 45 Swedish) genetically diagnosed with Usher syndrome type IIa. We used methods especially designed for characterizing and testing differences in audiological phenotype between patient subgroups. These methods included Age Related Typical Audiograms (ARTA) and a method to evaluate the difference in the degree of HI developed throughout life between subgroups.ResultsCross-sectional linear regression analysis of last-visit audiograms for the best hearing ear demonstrated a gradual decline of hearing over decades. The congenital level of HI was in the range of 16-33 dB at 0.25-0.5 kHz, and in the range of 51-60 dB at 1-8 kHz. The annual threshold deterioration was in the range of 0.4-0.5 dB/year at 0.25-2 kHz and in the range of 0.7-0.8 dB/year at 4-8 kHz. Patients with two truncating mutations, including homozygotes for the common c.2299delG mutation, developed significantly more severe HI throughout life than patients with one truncating mutation combined with one nontruncating mutation, and patients with two nontruncating mutations.ConclusionsThe results have direct implications for patient counselling in terms of prognosis of hearing and may serve as baseline measures for future (genetic) therapeutic interventions.



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Comment on Two-port network analysis and modeling of a balanced armature receiver

Publication date: Available online 16 June 2016
Source:Hearing Research
Author(s): Antoine Bernier, Philippe Herzog, Jérémie Voix




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A Combination of Two Truncating Mutations in USH2A causes more Severe and Progressive Hearing Impairment in Usher syndrome type IIa

Publication date: Available online 16 June 2016
Source:Hearing Research
Author(s): Bas P. Hartel, Maria Löfgren, Patrick L.M. Huygen, Iris Guchelaar, Nicole Lo-A-Njoe Kort, Andre M. Sadeghi, Erwin van Wijk, Lisbeth Tranebjærg, Hannie Kremer, William J. Kimberling, Cor W.R.J. Cremers, Claes Möller, Ronald J.E. Pennings
ObjectivesUsher syndrome is an inherited disorder that is characterized by hearing impairment (HI), retinitis pigmentosa, and in some cases vestibular dysfunction. Usher syndrome type IIa is caused by mutations in USH2A. HI in these patients is highly heterogeneous and the present study evaluates the effects of different types of USH2A mutations on the audiometric phenotype. Data from two large centres of expertise on Usher Syndrome in the Netherlands and Sweden were combined in order to create a large combined sample of patients to identify possible genotype-phenotype correlations.DesignA retrospective study on HI in 110 patients (65 Dutch and 45 Swedish) genetically diagnosed with Usher syndrome type IIa. We used methods especially designed for characterizing and testing differences in audiological phenotype between patient subgroups. These methods included Age Related Typical Audiograms (ARTA) and a method to evaluate the difference in the degree of HI developed throughout life between subgroups.ResultsCross-sectional linear regression analysis of last-visit audiograms for the best hearing ear demonstrated a gradual decline of hearing over decades. The congenital level of HI was in the range of 16-33 dB at 0.25-0.5 kHz, and in the range of 51-60 dB at 1-8 kHz. The annual threshold deterioration was in the range of 0.4-0.5 dB/year at 0.25-2 kHz and in the range of 0.7-0.8 dB/year at 4-8 kHz. Patients with two truncating mutations, including homozygotes for the common c.2299delG mutation, developed significantly more severe HI throughout life than patients with one truncating mutation combined with one nontruncating mutation, and patients with two nontruncating mutations.ConclusionsThe results have direct implications for patient counselling in terms of prognosis of hearing and may serve as baseline measures for future (genetic) therapeutic interventions.



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Comment on Two-port network analysis and modeling of a balanced armature receiver

Publication date: Available online 16 June 2016
Source:Hearing Research
Author(s): Antoine Bernier, Philippe Herzog, Jérémie Voix




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A Combination of Two Truncating Mutations in USH2A causes more Severe and Progressive Hearing Impairment in Usher syndrome type IIa

Publication date: Available online 16 June 2016
Source:Hearing Research
Author(s): Bas P. Hartel, Maria Löfgren, Patrick L.M. Huygen, Iris Guchelaar, Nicole Lo-A-Njoe Kort, Andre M. Sadeghi, Erwin van Wijk, Lisbeth Tranebjærg, Hannie Kremer, William J. Kimberling, Cor W.R.J. Cremers, Claes Möller, Ronald J.E. Pennings
ObjectivesUsher syndrome is an inherited disorder that is characterized by hearing impairment (HI), retinitis pigmentosa, and in some cases vestibular dysfunction. Usher syndrome type IIa is caused by mutations in USH2A. HI in these patients is highly heterogeneous and the present study evaluates the effects of different types of USH2A mutations on the audiometric phenotype. Data from two large centres of expertise on Usher Syndrome in the Netherlands and Sweden were combined in order to create a large combined sample of patients to identify possible genotype-phenotype correlations.DesignA retrospective study on HI in 110 patients (65 Dutch and 45 Swedish) genetically diagnosed with Usher syndrome type IIa. We used methods especially designed for characterizing and testing differences in audiological phenotype between patient subgroups. These methods included Age Related Typical Audiograms (ARTA) and a method to evaluate the difference in the degree of HI developed throughout life between subgroups.ResultsCross-sectional linear regression analysis of last-visit audiograms for the best hearing ear demonstrated a gradual decline of hearing over decades. The congenital level of HI was in the range of 16-33 dB at 0.25-0.5 kHz, and in the range of 51-60 dB at 1-8 kHz. The annual threshold deterioration was in the range of 0.4-0.5 dB/year at 0.25-2 kHz and in the range of 0.7-0.8 dB/year at 4-8 kHz. Patients with two truncating mutations, including homozygotes for the common c.2299delG mutation, developed significantly more severe HI throughout life than patients with one truncating mutation combined with one nontruncating mutation, and patients with two nontruncating mutations.ConclusionsThe results have direct implications for patient counselling in terms of prognosis of hearing and may serve as baseline measures for future (genetic) therapeutic interventions.



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Comment on Two-port network analysis and modeling of a balanced armature receiver

Publication date: Available online 16 June 2016
Source:Hearing Research
Author(s): Antoine Bernier, Philippe Herzog, Jérémie Voix




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A Combination of Two Truncating Mutations in USH2A causes more Severe and Progressive Hearing Impairment in Usher syndrome type IIa

Publication date: Available online 16 June 2016
Source:Hearing Research
Author(s): Bas P. Hartel, Maria Löfgren, Patrick L.M. Huygen, Iris Guchelaar, Nicole Lo-A-Njoe Kort, Andre M. Sadeghi, Erwin van Wijk, Lisbeth Tranebjærg, Hannie Kremer, William J. Kimberling, Cor W.R.J. Cremers, Claes Möller, Ronald J.E. Pennings
ObjectivesUsher syndrome is an inherited disorder that is characterized by hearing impairment (HI), retinitis pigmentosa, and in some cases vestibular dysfunction. Usher syndrome type IIa is caused by mutations in USH2A. HI in these patients is highly heterogeneous and the present study evaluates the effects of different types of USH2A mutations on the audiometric phenotype. Data from two large centres of expertise on Usher Syndrome in the Netherlands and Sweden were combined in order to create a large combined sample of patients to identify possible genotype-phenotype correlations.DesignA retrospective study on HI in 110 patients (65 Dutch and 45 Swedish) genetically diagnosed with Usher syndrome type IIa. We used methods especially designed for characterizing and testing differences in audiological phenotype between patient subgroups. These methods included Age Related Typical Audiograms (ARTA) and a method to evaluate the difference in the degree of HI developed throughout life between subgroups.ResultsCross-sectional linear regression analysis of last-visit audiograms for the best hearing ear demonstrated a gradual decline of hearing over decades. The congenital level of HI was in the range of 16-33 dB at 0.25-0.5 kHz, and in the range of 51-60 dB at 1-8 kHz. The annual threshold deterioration was in the range of 0.4-0.5 dB/year at 0.25-2 kHz and in the range of 0.7-0.8 dB/year at 4-8 kHz. Patients with two truncating mutations, including homozygotes for the common c.2299delG mutation, developed significantly more severe HI throughout life than patients with one truncating mutation combined with one nontruncating mutation, and patients with two nontruncating mutations.ConclusionsThe results have direct implications for patient counselling in terms of prognosis of hearing and may serve as baseline measures for future (genetic) therapeutic interventions.



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Singing Sand

So your audiometer decides to call it quits all of a sudden and you have a full schedule of patients to see. What do you do? Well, if you happen to be in Death Valley or a few select other sandy places in the world you have your back up right outside the door. Just walk out to the nearest sand dune, climb to the top, and start a mini avalanche by pushing some sand down. Soon you will have the entire dune humming a low frequency tone around 500 Hz.

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Transmasculine People's Voice Function: A Review of the Currently Available Evidence

Publication date: Available online 16 June 2016
Source:Journal of Voice
Author(s): David Azul, Ulrika Nygren, Maria Södersten, Christiane Neuschaefer-Rube
ObjectivesThis study aims to evaluate the currently available discursive and empirical data relating to those aspects of transmasculine people's vocal situations that are not primarily gender-related, to identify restrictions to voice function that have been observed in this population, and to make suggestions for future voice research and clinical practice.MethodsWe conducted a comprehensive review of the voice literature. Publications were identified by searching six electronic databases and bibliographies of relevant articles. Twenty-two publications met inclusion criteria. Discourses and empirical data were analyzed for factors and practices that impact on voice function and for indications of voice function-related problems in transmasculine people. The quality of the evidence was appraised.ResultsThe extent and quality of studies investigating transmasculine people's voice function was found to be limited. There was mixed evidence to suggest that transmasculine people might experience restrictions to a range of domains of voice function, including vocal power, vocal control/stability, glottal function, pitch range/variability, vocal endurance, and voice quality.ConclusionsMore research into the different factors and practices affecting transmasculine people's voice function that takes account of a range of parameters of voice function and considers participants' self-evaluations is needed to establish how functional voice production can be best supported in this population.



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Corrigendum to “Three dimensional multi-segmental trunk kinematics and kinetics during gait: Test-retest reliability and minimal detectable change” [Gait Posture 46 (2016) 18–25]

Publication date: Available online 16 June 2016
Source:Gait & Posture
Author(s): Rita S. Fernandes, Paulo Armada-da-Silva, Annelies L. Pool-Goudzwaard, Vera Moniz-Pereira, Antonio P. Veloso




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Corrigendum to “Test–retest reliability and minimal detectable change of three-dimensional gait analysis in chronic low back pain patients” [Gait Posture 42 (2015) 491–497]

Publication date: Available online 16 June 2016
Source:Gait & Posture
Author(s): Rita S. Fernandes, Paulo Armada-da-Silva, Annelies L. Pool-Goudzwaard, Vera Moniz-Pereira, António P. Veloso




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Corrigendum to “Three dimensional multi-segmental trunk kinematics and kinetics during gait: Test-retest reliability and minimal detectable change” [Gait Posture 46 (2016) 18–25]

Publication date: Available online 16 June 2016
Source:Gait & Posture
Author(s): Rita S. Fernandes, Paulo Armada-da-Silva, Annelies L. Pool-Goudzwaard, Vera Moniz-Pereira, Antonio P. Veloso




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Corrigendum to “Test–retest reliability and minimal detectable change of three-dimensional gait analysis in chronic low back pain patients” [Gait Posture 42 (2015) 491–497]

Publication date: Available online 16 June 2016
Source:Gait & Posture
Author(s): Rita S. Fernandes, Paulo Armada-da-Silva, Annelies L. Pool-Goudzwaard, Vera Moniz-Pereira, António P. Veloso




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Corrigendum to “Three dimensional multi-segmental trunk kinematics and kinetics during gait: Test-retest reliability and minimal detectable change” [Gait Posture 46 (2016) 18–25]

Publication date: Available online 16 June 2016
Source:Gait & Posture
Author(s): Rita S. Fernandes, Paulo Armada-da-Silva, Annelies L. Pool-Goudzwaard, Vera Moniz-Pereira, Antonio P. Veloso




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Corrigendum to “Test–retest reliability and minimal detectable change of three-dimensional gait analysis in chronic low back pain patients” [Gait Posture 42 (2015) 491–497]

Publication date: Available online 16 June 2016
Source:Gait & Posture
Author(s): Rita S. Fernandes, Paulo Armada-da-Silva, Annelies L. Pool-Goudzwaard, Vera Moniz-Pereira, António P. Veloso




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RMND1 deficiency associated with neonatal lactic acidosis, infantile onset renal failure, deafness, and multiorgan involvement.

Related Articles

RMND1 deficiency associated with neonatal lactic acidosis, infantile onset renal failure, deafness, and multiorgan involvement.

Eur J Hum Genet. 2015 Oct;23(10):1301-7

Authors: Janer A, van Karnebeek CD, Sasarman F, Antonicka H, Al Ghamdi M, Shyr C, Dunbar M, Stockler-Ispiroglu S, Ross CJ, Vallance H, Dionne J, Wasserman WW, Shoubridge EA

Abstract
RMND1 is an integral inner membrane mitochondrial protein that assembles into a large 240 kDa complex to support translation of the 13 polypeptides encoded on mtDNA, all of which are essential subunits of the oxidative phosphorylation (OXPHOS) complexes. Variants in RMND1 produce global defects in mitochondrial translation and were first reported in patients with severe neurological phenotypes leading to mortality in the first months of life. Using whole-exome sequencing, we identified compound heterozygous RMND1 variants in a 4-year-old patient with congenital lactic acidosis, severe myopathy, hearing loss, renal failure, and dysautonomia. The levels of mitochondrial ribosome proteins were reduced in patient fibroblasts, causing a translation defect, which was rescued by expression of the wild-type cDNA. RMND1 was almost undetectable by immunoblot analysis in patient muscle and fibroblasts. BN-PAGE analysis showed a severe combined OXPHOS assembly defect that was more prominent in patient muscle than in fibroblasts. Immunofluorescence experiments showed that RMND1 localizes to discrete foci in the mitochondrial network, juxtaposed to RNA granules where the primary mitochondrial transcripts are processed. RMND1 foci were not detected in patient fibroblasts. We hypothesize that RMND1 acts to anchor or stabilize the mitochondrial ribosome near the sites where the mRNAs are matured, spatially coupling post-transcriptional handling mRNAs with their translation, and that loss of function variants in RMND1 are associated with a unique constellation of clinical phenotypes that vary with the severity of the mitochondrial translation defect.

PMID: 25604853 [PubMed - indexed for MEDLINE]

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Why do geriatric patients visit otorhinolaryngology?

Why do geriatric patients visit otorhinolaryngology?

Ear Nose Throat J. 2016 Jun;95(6):224-229

Authors: Özler GS, Yengil E

Abstract
The number and proportion of people more than 65 years old in the population are increasing with the rise in life expectancy. This study was designed to investigate the otolarygologic needs and visits of geriatric patients. We conducted a retrospective study that included all patients ≥65 years of age who visited the otolaryngology department between 8 a.m. and 4 p.m. during 1 year. Age, gender, main complaint, and clinical diagnosis were noted on a chart and analyzed. In 2012, a total of 19,875 patients attended the otolaryngology department between 8 a.m. and 4 p.m., of whom 418 (2.1%) were aged ≥65 years. The most common complaints were ear and hearing disorders (24.2%), epistaxis(15.3%), balance disorders (15.1%), pharyngotonsillar pathologies (14.8%), and head and facial trauma (9.6%). This study shows that the changing patient population will change the type and frequencies of pathologies seen in general otolaryngology practices. Geriatric patients need a targeted approach to their diseases because they have special issues unique to their population.

PMID: 27304440 [PubMed - as supplied by publisher]

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Multiple Solutions to the Same Problem: Utilization of Plausibility and Syntax in Sentence Comprehension by Older Adults with Impaired Hearing.

Multiple Solutions to the Same Problem: Utilization of Plausibility and Syntax in Sentence Comprehension by Older Adults with Impaired Hearing.

Front Psychol. 2016;7:789

Authors: Amichetti NM, White AG, Wingfield A

Abstract
A fundamental question in psycholinguistic theory is whether equivalent success in sentence comprehension may come about by different underlying operations. Of special interest is whether adult aging, especially when accompanied by reduced hearing acuity, may shift the balance of reliance on formal syntax vs. plausibility in determining sentence meaning. In two experiments participants were asked to identify the thematic roles in grammatical sentences that contained either plausible or implausible semantic relations. Comprehension of sentence meanings was indexed by the ability to correctly name the agent or the recipient of an action represented in the sentence. In Experiment 1 young and older adults' comprehension was tested for plausible and implausible sentences with the meaning expressed with either an active-declarative or a passive syntactic form. In Experiment 2 comprehension performance was examined for young adults with age-normal hearing, older adults with good hearing acuity, and age-matched older adults with mild-to-moderate hearing loss for plausible or implausible sentences with meaning expressed with either a subject-relative (SR) or an object-relative (OR) syntactic structure. Experiment 1 showed that the likelihood of interpreting a sentence according to its literal meaning was reduced when that meaning expressed an implausible relationship. Experiment 2 showed that this likelihood was further decreased for OR as compared to SR sentences, and especially so for older adults whose hearing impairment added to the perceptual challenge. Experiment 2 also showed that working memory capacity as measured with a letter-number sequencing task contributed to the likelihood that listeners would base their comprehension responses on the literal syntax even when this processing scheme yielded an implausible meaning. Taken together, the results of both experiments support the postulate that listeners may use more than a single uniform processing strategy for successful sentence comprehension, with the existence of these alternative solutions only revealed when literal syntax and plausibility do not coincide.

PMID: 27303346 [PubMed]

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Vestibular function following unilateral cochlear implantation for profound sensorineural hearing loss.

Vestibular function following unilateral cochlear implantation for profound sensorineural hearing loss.

J Otolaryngol Head Neck Surg. 2016;45(1):38

Authors: le Nobel GJ, Hwang E, Wu A, Cushing S, Lin VY

Abstract
BACKGROUND: Many Canadians are affected by sensorineural hearing loss (SNHL) and those with severe or profound hearing loss may have poor hearing function despite optimized hearing aids. Cochlear implants (CI) offer effective hearing rehabilitation for these patients, however, concern continues to exist regarding possible effects of CI on the vestibular system and balance. The objective of this study was to conduct a pilot study assessing the effects of unilateral cochlear implantation (CI) on balance and the vestibular system in post-lingually deafened adults.
METHODS: Twelve patients were included in this pilot study and were assessed pre-operatively and at immediate, 1 week, and 1 month post-operative intervals. Assessments consisted of the dizziness handicap inventory (DHI), subjective visual vertical (SVV), and timed up-and-go testing (TUG). When applicable, testing was repeated with the CI on and off.
RESULTS: Many patients were found to have deviated SVV at pre-operative and post-operative assessments. However, statistically significant changes were not seen when comparing pre-operative and post-operative SVV or when comparing SVV with the CI on and with the CI off. DHI was found to improve in five patients and worsen in two patients, however, no statistically significant change was found in DHI scores or with TUG testing.
CONCLUSIONS: This current pilot study does not indicate that CI surgery or implant activity influence vestibular or balance function, however, this pilot study is underpowered and greater numbers of patients would need be assessed to confirm these findings.

PMID: 27301263 [PubMed - in process]

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Why do geriatric patients visit otorhinolaryngology?

Why do geriatric patients visit otorhinolaryngology?

Ear Nose Throat J. 2016 Jun;95(6):224-229

Authors: Özler GS, Yengil E

Abstract
The number and proportion of people more than 65 years old in the population are increasing with the rise in life expectancy. This study was designed to investigate the otolarygologic needs and visits of geriatric patients. We conducted a retrospective study that included all patients ≥65 years of age who visited the otolaryngology department between 8 a.m. and 4 p.m. during 1 year. Age, gender, main complaint, and clinical diagnosis were noted on a chart and analyzed. In 2012, a total of 19,875 patients attended the otolaryngology department between 8 a.m. and 4 p.m., of whom 418 (2.1%) were aged ≥65 years. The most common complaints were ear and hearing disorders (24.2%), epistaxis(15.3%), balance disorders (15.1%), pharyngotonsillar pathologies (14.8%), and head and facial trauma (9.6%). This study shows that the changing patient population will change the type and frequencies of pathologies seen in general otolaryngology practices. Geriatric patients need a targeted approach to their diseases because they have special issues unique to their population.

PMID: 27304440 [PubMed - as supplied by publisher]

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Multiple Solutions to the Same Problem: Utilization of Plausibility and Syntax in Sentence Comprehension by Older Adults with Impaired Hearing.

Multiple Solutions to the Same Problem: Utilization of Plausibility and Syntax in Sentence Comprehension by Older Adults with Impaired Hearing.

Front Psychol. 2016;7:789

Authors: Amichetti NM, White AG, Wingfield A

Abstract
A fundamental question in psycholinguistic theory is whether equivalent success in sentence comprehension may come about by different underlying operations. Of special interest is whether adult aging, especially when accompanied by reduced hearing acuity, may shift the balance of reliance on formal syntax vs. plausibility in determining sentence meaning. In two experiments participants were asked to identify the thematic roles in grammatical sentences that contained either plausible or implausible semantic relations. Comprehension of sentence meanings was indexed by the ability to correctly name the agent or the recipient of an action represented in the sentence. In Experiment 1 young and older adults' comprehension was tested for plausible and implausible sentences with the meaning expressed with either an active-declarative or a passive syntactic form. In Experiment 2 comprehension performance was examined for young adults with age-normal hearing, older adults with good hearing acuity, and age-matched older adults with mild-to-moderate hearing loss for plausible or implausible sentences with meaning expressed with either a subject-relative (SR) or an object-relative (OR) syntactic structure. Experiment 1 showed that the likelihood of interpreting a sentence according to its literal meaning was reduced when that meaning expressed an implausible relationship. Experiment 2 showed that this likelihood was further decreased for OR as compared to SR sentences, and especially so for older adults whose hearing impairment added to the perceptual challenge. Experiment 2 also showed that working memory capacity as measured with a letter-number sequencing task contributed to the likelihood that listeners would base their comprehension responses on the literal syntax even when this processing scheme yielded an implausible meaning. Taken together, the results of both experiments support the postulate that listeners may use more than a single uniform processing strategy for successful sentence comprehension, with the existence of these alternative solutions only revealed when literal syntax and plausibility do not coincide.

PMID: 27303346 [PubMed]

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Vestibular function following unilateral cochlear implantation for profound sensorineural hearing loss.

Vestibular function following unilateral cochlear implantation for profound sensorineural hearing loss.

J Otolaryngol Head Neck Surg. 2016;45(1):38

Authors: le Nobel GJ, Hwang E, Wu A, Cushing S, Lin VY

Abstract
BACKGROUND: Many Canadians are affected by sensorineural hearing loss (SNHL) and those with severe or profound hearing loss may have poor hearing function despite optimized hearing aids. Cochlear implants (CI) offer effective hearing rehabilitation for these patients, however, concern continues to exist regarding possible effects of CI on the vestibular system and balance. The objective of this study was to conduct a pilot study assessing the effects of unilateral cochlear implantation (CI) on balance and the vestibular system in post-lingually deafened adults.
METHODS: Twelve patients were included in this pilot study and were assessed pre-operatively and at immediate, 1 week, and 1 month post-operative intervals. Assessments consisted of the dizziness handicap inventory (DHI), subjective visual vertical (SVV), and timed up-and-go testing (TUG). When applicable, testing was repeated with the CI on and off.
RESULTS: Many patients were found to have deviated SVV at pre-operative and post-operative assessments. However, statistically significant changes were not seen when comparing pre-operative and post-operative SVV or when comparing SVV with the CI on and with the CI off. DHI was found to improve in five patients and worsen in two patients, however, no statistically significant change was found in DHI scores or with TUG testing.
CONCLUSIONS: This current pilot study does not indicate that CI surgery or implant activity influence vestibular or balance function, however, this pilot study is underpowered and greater numbers of patients would need be assessed to confirm these findings.

PMID: 27301263 [PubMed - in process]

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