OtoRhinoLaryngology by Sfakianakis G.Alexandros Sfakianakis G.Alexandros,Anapafseos 5 Agios Nikolaos 72100 Crete Greece,tel : 00302841026182,00306932607174
Πέμπτη 31 Αυγούστου 2017
Tympanometric assessment of Eustachian tube function as a prognostic indicator in myringoplasty
Advanced Arab Academy of Audio-Vestibulogy Journal 2017 4(1):14-18
Aim To determine eustachian tube function in tubo-tympanic type of chronic ear disease and correlate it with pathological changes in middle ear. Objective To ascertain whether eustachian tube function had any demeanor upon the outcome of myringoplasty. Backgound The prevailing interest in the patho-physiology of the eustachian tube has been stimulated by the persistent incidence of middle ear effusion and chronic otitis media. The ongoing sophistication in current middle ear reconstructive surgery has added more dimensions to the study of eustachian tube and its effects in the course of reconstructive middle ear surgery. One of the prime elements accountable for failure of reconstructive middle ear surgery has been tubal dysfunction. Method In the present study eustachian tube function was evaluated in in 30 patients who were undergoing myringoplasty for tubo-tympanic type of chronic suppurative otitis media having central perforation by tuning fork tests, microscopic evaluation of the middle ear mucosa and Impedance audiometry. Results 70% of the myringoplasty cases had good surgical outcome and of the 24 cases that had good eustation tube function 87.5% had successful surgical outcome remaining cases had recurrence of otorrhea. Conclusion The results were validating good eustachain tube function as a criterion for electing cases under middle ear reconstructive surgery and Impedance audiometer assures a superlative means of appraising Eustachain tube function.
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The role of antibiotics in treating secretory otitis media in children aged 2–12 years in an accredited teaching hospital in southeast Asia
Advanced Arab Academy of Audio-Vestibulogy Journal 2017 4(1):6-9
Introduction Secretory otitis media (SOM) is the most common clinical condition that can cause conductive deafness, especially among school-going children. The outcomes of hearing loss in children include speech problems, behavioral problems, and poor academic performance. Management of SOM therefore remains crucial. We carried out a comparative study of antibiotics versus surgical therapy for the treatment of SOM. Patients and methods The present study included 50 patients. Detailed history taking with ENT examinations was performed and documented in a validated pro forma. Routine investigations such as complete blood count, urine examination, audiological investigation such as impedance audiometry, etc, were carried out. Observation and results About 70% of the patients presented with symptoms of ear block with mouth breathing. Increased incidence was found in the 2–6 years age group. The present showed that surgery can increase the rate of recovery, shorten the duration of therapy, and prevent the recurrence of SOM compared with treatment with antibiotics. Conclusion Both the treatments have complications associated with them. Large, well-controlled studies can help resolve the risk–benefit ratio by measuring SOM recurrence, functional outcome, quality of life, and long-term outcomes.
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Sound therapy for tinnitus patients
Advanced Arab Academy of Audio-Vestibulogy Journal 2017 4(1):1-5
Sound therapy, or use of any sound for the purposes of tinnitus management, is widely accepted as a management tool for tinnitus. Sound therapy have varying goals. Reducing the attention drawn to tinnitus, reducing the loudness of tinnitus, substituting a less disruptive noise. Sound therapy can be achieved with many modalities: Environmental Enrichment, tinnitus maskers, hearing aids and combination instruments such as: Danalogic iFIT Tinnitus, ReSound Live TS, Oticon’s Tinnitus “SoundSupport”, Phonak’s Tinnitus Balance and Widex Zen Fractal Tones. There are other sound devices e.g.: Acoustic Co-ordinated Reset, Neuromodulation, Serenade, Neuromonics, Phase-Out, Phase-shift and tinnitus inhibitory pathway activation. The advantages of sound therapy are: being non-invasive, reduce patient frustration and anxiety, some patients experience residual inhibition and it can facilitate patient’s habituation to tinnitus.
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Hearing profile in children with allergic rhinitis
Advanced Arab Academy of Audio-Vestibulogy Journal 2017 4(1):10-13
Objective We carried out this study to determine the profile of hearing of children with allergic rhinitis compared with normal controls. Patients and methods Children with allergic rhinitis between the ages of 4 and 16 years attending the Otorhinolaryngology Clinics as well as age-matched and sex-matched controls were recruited into this study. We obtained the participants’ bio data, symptoms and duration using a structured interviewer questionnaire. We then carried out a pure tone audiometry on the participants. The degree of hearing loss was determined on the basis of the WHO standard classification. Results We recruited 99 children with clinical evidence of allergic rhinitis and an equal number of healthy controls completed the study. The mean age was 9.19±3.98 years in the test participants and 9.35±4.05 years in the controls, respectively. Mild hearing loss on the right side was more than twice as common among patients, 24 (24.2%), compared with the controls, 11(11.1%). Left-sided mild hearing loss was more than four times more prevalent among patients with allergic rhinitis, 26 (26.3%), compared with the controls, six (6.1%). Hearing threshold worse than 25 dB hearing level in the better-hearing ear was found to be significantly more prevalent among patients compared with the controls. Conclusion We could conclude that hearing is significantly worse in allergic children compared with controls, with disabling hearing loss being more significantly associated with allergic rhinitis.
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Comparison of two hearing aid fitting formulae in improving the patients’ satisfaction with amplification for experienced hearing aid users
Advanced Arab Academy of Audio-Vestibulogy Journal 2017 4(1):19-25
Introduction The effectiveness of real word satisfaction is very important for optimal hearing aid (HA) fitting, which can be assessed using self-report questionnaires. The Client Oriented Scale of Improvement (COSI) and Abbreviated Profile of Hearing Aid Benefit (APHAB) are useful tools for assessing the effectiveness of HA in achieving patient satisfaction. Patients and methods This study included 20 hearing-impaired adults. Their hearing thresholds ranged from moderate to moderately severe sensorineural hearing loss and had previous experience with HAs. Their ages ranged from 18 to 60 years, and the mean duration of HA experience was 3.85±5.02 years. Participants were examined in three scheduled sessions: unaided, aided National Acoustics Laboratories-Nonlinear 2 (NAL-NL2), and aided desired sensation level (DSL) v5. Each session was scheduled 2 months after the previous session. Patient satisfaction was assessed using the COSI and APHAB questionnaires for each HA fitting formulae. Results Both formulae have improved patient’s five client needs of the COSI; however, NAL-NL2 had better final ability score compared with DSL v5. Using the APHAB questionnaire, both formulae have decreased the listening difficulty score significantly. Using APHAB questionnaire, NAL-NL2 showed significantly less listening difficulty compared with DSL v5 as regards difficulties in ease of communication, broadband noise, and reverberation. However, both formulae did not improve ‘aversiveness’ conditions. Conclusion Questionnaires are equally important to audiometric tests and should not be underestimated and hence should be relied upon it in HA-fitting verification.
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Tympanometric assessment of Eustachian tube function as a prognostic indicator in myringoplasty
Advanced Arab Academy of Audio-Vestibulogy Journal 2017 4(1):14-18
Aim To determine eustachian tube function in tubo-tympanic type of chronic ear disease and correlate it with pathological changes in middle ear. Objective To ascertain whether eustachian tube function had any demeanor upon the outcome of myringoplasty. Backgound The prevailing interest in the patho-physiology of the eustachian tube has been stimulated by the persistent incidence of middle ear effusion and chronic otitis media. The ongoing sophistication in current middle ear reconstructive surgery has added more dimensions to the study of eustachian tube and its effects in the course of reconstructive middle ear surgery. One of the prime elements accountable for failure of reconstructive middle ear surgery has been tubal dysfunction. Method In the present study eustachian tube function was evaluated in in 30 patients who were undergoing myringoplasty for tubo-tympanic type of chronic suppurative otitis media having central perforation by tuning fork tests, microscopic evaluation of the middle ear mucosa and Impedance audiometry. Results 70% of the myringoplasty cases had good surgical outcome and of the 24 cases that had good eustation tube function 87.5% had successful surgical outcome remaining cases had recurrence of otorrhea. Conclusion The results were validating good eustachain tube function as a criterion for electing cases under middle ear reconstructive surgery and Impedance audiometer assures a superlative means of appraising Eustachain tube function.
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The role of antibiotics in treating secretory otitis media in children aged 2–12 years in an accredited teaching hospital in southeast Asia
Advanced Arab Academy of Audio-Vestibulogy Journal 2017 4(1):6-9
Introduction Secretory otitis media (SOM) is the most common clinical condition that can cause conductive deafness, especially among school-going children. The outcomes of hearing loss in children include speech problems, behavioral problems, and poor academic performance. Management of SOM therefore remains crucial. We carried out a comparative study of antibiotics versus surgical therapy for the treatment of SOM. Patients and methods The present study included 50 patients. Detailed history taking with ENT examinations was performed and documented in a validated pro forma. Routine investigations such as complete blood count, urine examination, audiological investigation such as impedance audiometry, etc, were carried out. Observation and results About 70% of the patients presented with symptoms of ear block with mouth breathing. Increased incidence was found in the 2–6 years age group. The present showed that surgery can increase the rate of recovery, shorten the duration of therapy, and prevent the recurrence of SOM compared with treatment with antibiotics. Conclusion Both the treatments have complications associated with them. Large, well-controlled studies can help resolve the risk–benefit ratio by measuring SOM recurrence, functional outcome, quality of life, and long-term outcomes.
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Sound therapy for tinnitus patients
Advanced Arab Academy of Audio-Vestibulogy Journal 2017 4(1):1-5
Sound therapy, or use of any sound for the purposes of tinnitus management, is widely accepted as a management tool for tinnitus. Sound therapy have varying goals. Reducing the attention drawn to tinnitus, reducing the loudness of tinnitus, substituting a less disruptive noise. Sound therapy can be achieved with many modalities: Environmental Enrichment, tinnitus maskers, hearing aids and combination instruments such as: Danalogic iFIT Tinnitus, ReSound Live TS, Oticon’s Tinnitus “SoundSupport”, Phonak’s Tinnitus Balance and Widex Zen Fractal Tones. There are other sound devices e.g.: Acoustic Co-ordinated Reset, Neuromodulation, Serenade, Neuromonics, Phase-Out, Phase-shift and tinnitus inhibitory pathway activation. The advantages of sound therapy are: being non-invasive, reduce patient frustration and anxiety, some patients experience residual inhibition and it can facilitate patient’s habituation to tinnitus.
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Hearing profile in children with allergic rhinitis
Advanced Arab Academy of Audio-Vestibulogy Journal 2017 4(1):10-13
Objective We carried out this study to determine the profile of hearing of children with allergic rhinitis compared with normal controls. Patients and methods Children with allergic rhinitis between the ages of 4 and 16 years attending the Otorhinolaryngology Clinics as well as age-matched and sex-matched controls were recruited into this study. We obtained the participants’ bio data, symptoms and duration using a structured interviewer questionnaire. We then carried out a pure tone audiometry on the participants. The degree of hearing loss was determined on the basis of the WHO standard classification. Results We recruited 99 children with clinical evidence of allergic rhinitis and an equal number of healthy controls completed the study. The mean age was 9.19±3.98 years in the test participants and 9.35±4.05 years in the controls, respectively. Mild hearing loss on the right side was more than twice as common among patients, 24 (24.2%), compared with the controls, 11(11.1%). Left-sided mild hearing loss was more than four times more prevalent among patients with allergic rhinitis, 26 (26.3%), compared with the controls, six (6.1%). Hearing threshold worse than 25 dB hearing level in the better-hearing ear was found to be significantly more prevalent among patients compared with the controls. Conclusion We could conclude that hearing is significantly worse in allergic children compared with controls, with disabling hearing loss being more significantly associated with allergic rhinitis.
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Comparison of two hearing aid fitting formulae in improving the patients’ satisfaction with amplification for experienced hearing aid users
Advanced Arab Academy of Audio-Vestibulogy Journal 2017 4(1):19-25
Introduction The effectiveness of real word satisfaction is very important for optimal hearing aid (HA) fitting, which can be assessed using self-report questionnaires. The Client Oriented Scale of Improvement (COSI) and Abbreviated Profile of Hearing Aid Benefit (APHAB) are useful tools for assessing the effectiveness of HA in achieving patient satisfaction. Patients and methods This study included 20 hearing-impaired adults. Their hearing thresholds ranged from moderate to moderately severe sensorineural hearing loss and had previous experience with HAs. Their ages ranged from 18 to 60 years, and the mean duration of HA experience was 3.85±5.02 years. Participants were examined in three scheduled sessions: unaided, aided National Acoustics Laboratories-Nonlinear 2 (NAL-NL2), and aided desired sensation level (DSL) v5. Each session was scheduled 2 months after the previous session. Patient satisfaction was assessed using the COSI and APHAB questionnaires for each HA fitting formulae. Results Both formulae have improved patient’s five client needs of the COSI; however, NAL-NL2 had better final ability score compared with DSL v5. Using the APHAB questionnaire, both formulae have decreased the listening difficulty score significantly. Using APHAB questionnaire, NAL-NL2 showed significantly less listening difficulty compared with DSL v5 as regards difficulties in ease of communication, broadband noise, and reverberation. However, both formulae did not improve ‘aversiveness’ conditions. Conclusion Questionnaires are equally important to audiometric tests and should not be underestimated and hence should be relied upon it in HA-fitting verification.
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Tympanometric assessment of Eustachian tube function as a prognostic indicator in myringoplasty
Advanced Arab Academy of Audio-Vestibulogy Journal 2017 4(1):14-18
Aim To determine eustachian tube function in tubo-tympanic type of chronic ear disease and correlate it with pathological changes in middle ear. Objective To ascertain whether eustachian tube function had any demeanor upon the outcome of myringoplasty. Backgound The prevailing interest in the patho-physiology of the eustachian tube has been stimulated by the persistent incidence of middle ear effusion and chronic otitis media. The ongoing sophistication in current middle ear reconstructive surgery has added more dimensions to the study of eustachian tube and its effects in the course of reconstructive middle ear surgery. One of the prime elements accountable for failure of reconstructive middle ear surgery has been tubal dysfunction. Method In the present study eustachian tube function was evaluated in in 30 patients who were undergoing myringoplasty for tubo-tympanic type of chronic suppurative otitis media having central perforation by tuning fork tests, microscopic evaluation of the middle ear mucosa and Impedance audiometry. Results 70% of the myringoplasty cases had good surgical outcome and of the 24 cases that had good eustation tube function 87.5% had successful surgical outcome remaining cases had recurrence of otorrhea. Conclusion The results were validating good eustachain tube function as a criterion for electing cases under middle ear reconstructive surgery and Impedance audiometer assures a superlative means of appraising Eustachain tube function.
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The role of antibiotics in treating secretory otitis media in children aged 2–12 years in an accredited teaching hospital in southeast Asia
Advanced Arab Academy of Audio-Vestibulogy Journal 2017 4(1):6-9
Introduction Secretory otitis media (SOM) is the most common clinical condition that can cause conductive deafness, especially among school-going children. The outcomes of hearing loss in children include speech problems, behavioral problems, and poor academic performance. Management of SOM therefore remains crucial. We carried out a comparative study of antibiotics versus surgical therapy for the treatment of SOM. Patients and methods The present study included 50 patients. Detailed history taking with ENT examinations was performed and documented in a validated pro forma. Routine investigations such as complete blood count, urine examination, audiological investigation such as impedance audiometry, etc, were carried out. Observation and results About 70% of the patients presented with symptoms of ear block with mouth breathing. Increased incidence was found in the 2–6 years age group. The present showed that surgery can increase the rate of recovery, shorten the duration of therapy, and prevent the recurrence of SOM compared with treatment with antibiotics. Conclusion Both the treatments have complications associated with them. Large, well-controlled studies can help resolve the risk–benefit ratio by measuring SOM recurrence, functional outcome, quality of life, and long-term outcomes.
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Sound therapy for tinnitus patients
Advanced Arab Academy of Audio-Vestibulogy Journal 2017 4(1):1-5
Sound therapy, or use of any sound for the purposes of tinnitus management, is widely accepted as a management tool for tinnitus. Sound therapy have varying goals. Reducing the attention drawn to tinnitus, reducing the loudness of tinnitus, substituting a less disruptive noise. Sound therapy can be achieved with many modalities: Environmental Enrichment, tinnitus maskers, hearing aids and combination instruments such as: Danalogic iFIT Tinnitus, ReSound Live TS, Oticon’s Tinnitus “SoundSupport”, Phonak’s Tinnitus Balance and Widex Zen Fractal Tones. There are other sound devices e.g.: Acoustic Co-ordinated Reset, Neuromodulation, Serenade, Neuromonics, Phase-Out, Phase-shift and tinnitus inhibitory pathway activation. The advantages of sound therapy are: being non-invasive, reduce patient frustration and anxiety, some patients experience residual inhibition and it can facilitate patient’s habituation to tinnitus.
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Hearing profile in children with allergic rhinitis
Advanced Arab Academy of Audio-Vestibulogy Journal 2017 4(1):10-13
Objective We carried out this study to determine the profile of hearing of children with allergic rhinitis compared with normal controls. Patients and methods Children with allergic rhinitis between the ages of 4 and 16 years attending the Otorhinolaryngology Clinics as well as age-matched and sex-matched controls were recruited into this study. We obtained the participants’ bio data, symptoms and duration using a structured interviewer questionnaire. We then carried out a pure tone audiometry on the participants. The degree of hearing loss was determined on the basis of the WHO standard classification. Results We recruited 99 children with clinical evidence of allergic rhinitis and an equal number of healthy controls completed the study. The mean age was 9.19±3.98 years in the test participants and 9.35±4.05 years in the controls, respectively. Mild hearing loss on the right side was more than twice as common among patients, 24 (24.2%), compared with the controls, 11(11.1%). Left-sided mild hearing loss was more than four times more prevalent among patients with allergic rhinitis, 26 (26.3%), compared with the controls, six (6.1%). Hearing threshold worse than 25 dB hearing level in the better-hearing ear was found to be significantly more prevalent among patients compared with the controls. Conclusion We could conclude that hearing is significantly worse in allergic children compared with controls, with disabling hearing loss being more significantly associated with allergic rhinitis.
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Comparison of two hearing aid fitting formulae in improving the patients’ satisfaction with amplification for experienced hearing aid users
Advanced Arab Academy of Audio-Vestibulogy Journal 2017 4(1):19-25
Introduction The effectiveness of real word satisfaction is very important for optimal hearing aid (HA) fitting, which can be assessed using self-report questionnaires. The Client Oriented Scale of Improvement (COSI) and Abbreviated Profile of Hearing Aid Benefit (APHAB) are useful tools for assessing the effectiveness of HA in achieving patient satisfaction. Patients and methods This study included 20 hearing-impaired adults. Their hearing thresholds ranged from moderate to moderately severe sensorineural hearing loss and had previous experience with HAs. Their ages ranged from 18 to 60 years, and the mean duration of HA experience was 3.85±5.02 years. Participants were examined in three scheduled sessions: unaided, aided National Acoustics Laboratories-Nonlinear 2 (NAL-NL2), and aided desired sensation level (DSL) v5. Each session was scheduled 2 months after the previous session. Patient satisfaction was assessed using the COSI and APHAB questionnaires for each HA fitting formulae. Results Both formulae have improved patient’s five client needs of the COSI; however, NAL-NL2 had better final ability score compared with DSL v5. Using the APHAB questionnaire, both formulae have decreased the listening difficulty score significantly. Using APHAB questionnaire, NAL-NL2 showed significantly less listening difficulty compared with DSL v5 as regards difficulties in ease of communication, broadband noise, and reverberation. However, both formulae did not improve ‘aversiveness’ conditions. Conclusion Questionnaires are equally important to audiometric tests and should not be underestimated and hence should be relied upon it in HA-fitting verification.
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Applying Item Response Theory to the Development of a Screening Adaptation of the Goldman-Fristoe Test of Articulation–Second Edition
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Applying Item Response Theory to the Development of a Screening Adaptation of the Goldman-Fristoe Test of Articulation–Second Edition
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Applying Item Response Theory to the Development of a Screening Adaptation of the Goldman-Fristoe Test of Articulation–Second Edition
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Effects of Aging on Vocal Fundamental Frequency and Vowel Formants in Men and Women
Source:Journal of Voice
Author(s): Julie Traub Eichhorn, Raymond D. Kent, Diane Austin, Houri K. Vorperian
PurposeThis study reports data on vocal fundamental frequency (fo) and the first four formant frequencies (F1, F2, F3, F4) for four vowels produced by speakers in three adult age cohorts, in a test of the null hypothesis that there are no age-related changes in these variables. Participants were 43 men and 53 women between the ages of 20 and 92 years.ResultsThe most consistent age-related effect was a decrease in fo for women. Significant differences in F1, F2, and F3 were vowel-specific for both sexes. No significant differences were observed for the highest formant F4.ConclusionsWomen experience a significant decrease in fo, which is likely related to menopause. Formant frequencies of the corner vowels change little across several decades of adult life, either because physiological aging has small effects on these variables or because individuals compensate for age-related changes in anatomy and physiology.
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A New Relationship
How I craved you in my youth. The bigger your roar, the less I could resist you. The harder you shook everything that was supposed to be stationary, the closer I moved in. I needed to experience you up close and personal. You brought the style to a musical gathering. If my cheeks did not tremble in your pressure wave, I was not close enough to the speakers or the stage.
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Τετάρτη 30 Αυγούστου 2017
Understanding Hearing and Hearing Loss in Children With Down Syndrome
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Understanding Hearing and Hearing Loss in Children With Down Syndrome
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Understanding Hearing and Hearing Loss in Children With Down Syndrome
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Training Peer Partners to Use a Speech-Generating Device With Classmates With Autism Spectrum Disorder: Exploring Communication Outcomes Across Preschool Contexts
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Distributed Training Enhances Implicit Sequence Acquisition in Children With Specific Language Impairment
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Training Peer Partners to Use a Speech-Generating Device With Classmates With Autism Spectrum Disorder: Exploring Communication Outcomes Across Preschool Contexts
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Distributed Training Enhances Implicit Sequence Acquisition in Children With Specific Language Impairment
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Training Peer Partners to Use a Speech-Generating Device With Classmates With Autism Spectrum Disorder: Exploring Communication Outcomes Across Preschool Contexts
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Distributed Training Enhances Implicit Sequence Acquisition in Children With Specific Language Impairment
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Preliminary evaluation of a novel non-linear frequency compression scheme for use in children
Preliminary evaluation of a novel non-linear frequency compression scheme for use in children
Preliminary evaluation of a novel non-linear frequency compression scheme for use in children
Preliminary evaluation of a novel non-linear frequency compression scheme for use in children
Preliminary evaluation of a novel non-linear frequency compression scheme for use in children
NLRP3 mutation and cochlear autoinflammation cause syndromic and nonsyndromic hearing loss DFNA34 responsive to anakinra therapy.
Related Articles |
NLRP3 mutation and cochlear autoinflammation cause syndromic and nonsyndromic hearing loss DFNA34 responsive to anakinra therapy.
Proc Natl Acad Sci U S A. 2017 Aug 28;:
Authors: Nakanishi H, Kawashima Y, Kurima K, Chae JJ, Ross AM, Pinto-Patarroyo G, Patel SK, Muskett JA, Ratay JS, Chattaraj P, Park YH, Grevich S, Brewer CC, Hoa M, Kim HJ, Butman JA, Broderick L, Hoffman HM, Aksentijevich I, Kastner DL, Goldbach-Mansky R, Griffith AJ
Abstract
The NLRP3 inflammasome is an intracellular innate immune sensor that is expressed in immune cells, including monocytes and macrophages. Activation of the NLRP3 inflammasome leads to IL-1β secretion. Gain-of-function mutations of NLRP3 result in abnormal activation of the NLRP3 inflammasome, and cause the autosomal dominant systemic autoinflammatory disease spectrum, termed cryopyrin-associated periodic syndromes (CAPS). Here, we show that a missense mutation, p.Arg918Gln (c.2753G > A), of NLRP3 causes autosomal-dominant sensorineural hearing loss in two unrelated families. In family LMG446, hearing loss is accompanied by autoinflammatory signs and symptoms without serologic evidence of inflammation as part of an atypical CAPS phenotype and was reversed or improved by IL-1β blockade therapy. In family LMG113, hearing loss segregates without any other target-organ manifestations of CAPS. This observation led us to explore the possibility that resident macrophage/monocyte-like cells in the cochlea can mediate local autoinflammation via activation of the NLRP3 inflammasome. The NLRP3 inflammasome can indeed be activated in resident macrophage/monocyte-like cells in the mouse cochlea, resulting in secretion of IL-1β. This pathway could underlie treatable sensorineural hearing loss in DFNA34, CAPS, and possibly in a wide variety of hearing-loss disorders, such as sudden sensorineural hearing loss and Meniere's disease that are elicited by pathogens and processes that stimulate innate immune responses within the cochlea.
PMID: 28847925 [PubMed - as supplied by publisher]
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Succinyl-CoA synthetase (SUCLA2) deficiency in two siblings with impaired activity of other mitochondrial oxidative enzymes in skeletal muscle without mitochondrial DNA depletion.
Related Articles |
Succinyl-CoA synthetase (SUCLA2) deficiency in two siblings with impaired activity of other mitochondrial oxidative enzymes in skeletal muscle without mitochondrial DNA depletion.
Mol Genet Metab. 2017 Mar;120(3):213-222
Authors: Huang X, Bedoyan JK, Demirbas D, Harris DJ, Miron A, Edelheit S, Grahame G, DeBrosse SD, Wong LJ, Hoppel CL, Kerr DS, Anselm I, Berry GT
Abstract
Mutations in SUCLA2 result in succinyl-CoA ligase (ATP-forming) or succinyl-CoA synthetase (ADP-forming) (A-SCS) deficiency, a mitochondrial tricarboxylic acid cycle disorder. The phenotype associated with this gene defect is largely encephalomyopathy. We describe two siblings compound heterozygous for SUCLA2 mutations, c.985A>G (p.M329V) and c.920C>T (p.A307V), with parents confirmed as carriers of each mutation. We developed a new LC-MS/MS based enzyme assay to demonstrate the decreased SCS activity in the siblings with this unique genotype. Both siblings shared bilateral progressive hearing loss, encephalopathy, global developmental delay, generalized myopathy, and dystonia with choreoathetosis. Prior to diagnosis and because of lactic acidosis and low activity of muscle pyruvate dehydrogenase complex (PDC), sibling 1 (S1) was placed on dichloroacetate, while sibling 2 (S2) was on a ketogenic diet. S1 developed severe cyclic vomiting refractory to therapy, while S2 developed Leigh syndrome, severe GI dysmotility, intermittent anemia, hypogammaglobulinemia and eventually succumbed to his disorder. The mitochondrial DNA contents in skeletal muscle (SM) were normal in both siblings. Pyruvate dehydrogenase complex, ketoglutarate dehydrogenase complex, and several mitochondrial electron transport chain (ETC) activities were low or at the low end of the reference range in frozen SM from S1 and/or S2. In contrast, activities of PDC, other mitochondrial enzymes of pyruvate metabolism, ETC and, integrated oxidative phosphorylation, in skin fibroblasts were not significantly impaired. Although we show that propionyl-CoA inhibits PDC, it does not appear to account for decreased PDC activity in SM. A better understanding of the mechanisms of phenotypic variability and the etiology for tissue-specific secondary deficiencies of mitochondrial enzymes of oxidative metabolism, and independently mitochondrial DNA depletion (common in other cases of A-SCS deficiency), is needed given the implications for control of lactic acidosis and possible clinical management.
PMID: 27913098 [PubMed - indexed for MEDLINE]
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Beyond Cell-Cell Adhesion: Sensational Cadherins for Hearing and Balance.
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Beyond Cell-Cell Adhesion: Sensational Cadherins for Hearing and Balance.
Cold Spring Harb Perspect Biol. 2017 Aug 28;:
Authors: Jaiganesh A, Narui Y, Araya-Secchi R, Sotomayor M
Abstract
Cadherins form a large family of proteins often involved in calcium-dependent cellular adhesion. Although classical members of the family can provide a physical bond between cells, a subset of special cadherins use their extracellular domains to interlink apical specializations of single epithelial sensory cells. Two of these cadherins, cadherin-23 (CDH23) and protocadherin-15 (PCDH15), form extracellular "tip link" filaments that connect apical bundles of stereocilia on hair cells essential for inner-ear mechanotransduction. As these bundles deflect in response to mechanical stimuli from sound or head movements, tip links gate hair-cell mechanosensitive channels to initiate sensory perception. Here, we review the unusual and diverse structural properties of these tip-link cadherins and the functional significance of their deafness-related missense mutations. Based on the structural features of CDH23 and PCDH15, we discuss the elasticity of tip links and models that bridge the gap between the nanomechanics of cadherins and the micromechanics of hair-cell bundles during inner-ear mechanotransduction.
PMID: 28847902 [PubMed - as supplied by publisher]
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Beyond Cell-Cell Adhesion: Sensational Cadherins for Hearing and Balance.
Related Articles |
Beyond Cell-Cell Adhesion: Sensational Cadherins for Hearing and Balance.
Cold Spring Harb Perspect Biol. 2017 Aug 28;:
Authors: Jaiganesh A, Narui Y, Araya-Secchi R, Sotomayor M
Abstract
Cadherins form a large family of proteins often involved in calcium-dependent cellular adhesion. Although classical members of the family can provide a physical bond between cells, a subset of special cadherins use their extracellular domains to interlink apical specializations of single epithelial sensory cells. Two of these cadherins, cadherin-23 (CDH23) and protocadherin-15 (PCDH15), form extracellular "tip link" filaments that connect apical bundles of stereocilia on hair cells essential for inner-ear mechanotransduction. As these bundles deflect in response to mechanical stimuli from sound or head movements, tip links gate hair-cell mechanosensitive channels to initiate sensory perception. Here, we review the unusual and diverse structural properties of these tip-link cadherins and the functional significance of their deafness-related missense mutations. Based on the structural features of CDH23 and PCDH15, we discuss the elasticity of tip links and models that bridge the gap between the nanomechanics of cadherins and the micromechanics of hair-cell bundles during inner-ear mechanotransduction.
PMID: 28847902 [PubMed - as supplied by publisher]
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Dual-Task Walking Performance in Older Persons With Hearing Impairment: Implications for Interventions From a Preliminary Observational Study.
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Stability of Auditory Steady State Responses Over Time.
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Dual-Task Walking Performance in Older Persons With Hearing Impairment: Implications for Interventions From a Preliminary Observational Study.
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Stability of Auditory Steady State Responses Over Time.
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Dual-Task Walking Performance in Older Persons With Hearing Impairment: Implications for Interventions From a Preliminary Observational Study.
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Stability of Auditory Steady State Responses Over Time.
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Τρίτη 29 Αυγούστου 2017
Texas Department of Licensing and Regulation for Out-of-State Health-Care Providers Assisting with Disaster Response
In accordance with Section 418.016 of the Texas Government Code, Governor Greg Abbott has temporarily suspended all necessary statutes and rules to allow licensed health-care providers employed by a hospital and who are in good standing in another state to practice in Texas to assist with disaster response operations.
This suspension is in effect until terminated by the Office of the Governor or until the Hurricane Harvey disaster declaration is lifted or expires.
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Auditory Training Schedules: What Is the Best Strategy?
Are the outcomes of an auditory training (AT) program better if the training is intensive and done close together in time (i.e., massed) or spread apart (i.e., spaced)? Tye-Murray et al (2017) attempted to answer this question.
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Δευτέρα 28 Αυγούστου 2017
How to Enjoy a Holiday Weekend
With Labor Day right around the corner, many of us may be planning some much-needed time away from the office. Are you able to truly relax and leave work behind when you are on vacation? Not everyone is able to stop thinking about work when they are not in the office. If this sounds like you, you may want to check out Art Markman's Harvard Business Review article titled “How to Forget About Work When You're Not Working.”
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Κυριακή 27 Αυγούστου 2017
Laryngeal Manual Therapies for Behavioral Dysphonia: A Systematic Review and Meta-analysis
Source:Journal of Voice
Author(s): Vanessa Veis Ribeiro, Vanessa Pedrosa, Kelly Cristina Alves Silverio, Mara Behlau
ObjectivesThe aim of this study was to review systematically the literature and to analyze the effectiveness of laryngeal manual therapy in addressing the overall severity of vocal deviation, the intensity of vocal and laryngeal symptoms, and musculoskeletal pain in adults with behavioral dysphonia.Study DesignThis is a systematic review and meta-analysis.MethodsTwo independent authors selected clinical trials that analyzed the effectiveness of laryngeal manual therapy compared with other interventions in the treatment of adults with behavioral dysphonia from the Cochrane Library, PubMed, Web of Science, and LILACS. The analyzed outcomes were the overall severity of vocal deviation, the intensity of vocal and laryngeal symptoms, and musculoskeletal pain. Data analysis was conducted based on the following steps: the assessment of the risk of bias, the measures of treatment effect and descriptive data analysis, the assessment of heterogeneity, subgroup analysis, sensitivity analysis, and the assessment of reporting biases.ResultsA total of 2135 studies were identified, three of which met the selection criteria. Data analysis showed an unclear risk of 100% of performance bias and 66% of detection bias, in addition to a 33% high risk of selection bias. Low statistical and clinical heterogeneities were found. In addition, no significant difference was found in the relative risk of improvement with laryngeal manual therapy and with other interventions in the analyzed outcomes.ConclusionsVarious types of laryngeal manual therapies are available with similar objectives and effects, but their effectiveness is equivalent to that of other interventions involving direct voice therapy in the rehabilitation of adults with behavioral dysphonia.
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Σάββατο 26 Αυγούστου 2017
Tolerable delay for speech production and perception: effects of hearing ability and experience with hearing aids.
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Tolerable delay for speech production and perception: effects of hearing ability and experience with hearing aids.
Int J Audiol. 2017 Aug 24;:1-8
Authors: Goehring T, Chapman JL, Bleeck S, Monaghan JJM
Abstract
OBJECTIVE: Processing delay is one of the important factors that limit the development of novel algorithms for hearing devices. In this study, both normal-hearing listeners and listeners with hearing loss were tested for their tolerance of processing delay up to 50 ms using a real-time setup for own-voice and external-voice conditions based on linear processing to avoid confounding effects of time-dependent gain.
DESIGN: Participants rated their perceived subjective annoyance for each condition on a 7-point Likert scale.
STUDY SAMPLE: Twenty normal-hearing participants and twenty participants with a range of mild to moderate hearing losses.
RESULTS: Delay tolerance was significantly greater for the participants with hearing loss in two out of three voice conditions. The average slopes of annoyance ratings were negatively correlated with the degree of hearing loss across participants. A small trend of higher tolerance of delay by experienced users of hearing aids in comparison to new users was not significant.
CONCLUSION: The increased tolerance of processing delay for speech production and perception with hearing loss and reduced sensitivity to changes in delay with stronger hearing loss may be beneficial for novel algorithms for hearing devices but the setup used in this study differed from commercial hearing aids.
PMID: 28838277 [PubMed - as supplied by publisher]
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Tolerable delay for speech production and perception: effects of hearing ability and experience with hearing aids.
Related Articles |
Tolerable delay for speech production and perception: effects of hearing ability and experience with hearing aids.
Int J Audiol. 2017 Aug 24;:1-8
Authors: Goehring T, Chapman JL, Bleeck S, Monaghan JJM
Abstract
OBJECTIVE: Processing delay is one of the important factors that limit the development of novel algorithms for hearing devices. In this study, both normal-hearing listeners and listeners with hearing loss were tested for their tolerance of processing delay up to 50 ms using a real-time setup for own-voice and external-voice conditions based on linear processing to avoid confounding effects of time-dependent gain.
DESIGN: Participants rated their perceived subjective annoyance for each condition on a 7-point Likert scale.
STUDY SAMPLE: Twenty normal-hearing participants and twenty participants with a range of mild to moderate hearing losses.
RESULTS: Delay tolerance was significantly greater for the participants with hearing loss in two out of three voice conditions. The average slopes of annoyance ratings were negatively correlated with the degree of hearing loss across participants. A small trend of higher tolerance of delay by experienced users of hearing aids in comparison to new users was not significant.
CONCLUSION: The increased tolerance of processing delay for speech production and perception with hearing loss and reduced sensitivity to changes in delay with stronger hearing loss may be beneficial for novel algorithms for hearing devices but the setup used in this study differed from commercial hearing aids.
PMID: 28838277 [PubMed - as supplied by publisher]
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Tolerable delay for speech production and perception: effects of hearing ability and experience with hearing aids.
Related Articles |
Tolerable delay for speech production and perception: effects of hearing ability and experience with hearing aids.
Int J Audiol. 2017 Aug 24;:1-8
Authors: Goehring T, Chapman JL, Bleeck S, Monaghan JJM
Abstract
OBJECTIVE: Processing delay is one of the important factors that limit the development of novel algorithms for hearing devices. In this study, both normal-hearing listeners and listeners with hearing loss were tested for their tolerance of processing delay up to 50 ms using a real-time setup for own-voice and external-voice conditions based on linear processing to avoid confounding effects of time-dependent gain.
DESIGN: Participants rated their perceived subjective annoyance for each condition on a 7-point Likert scale.
STUDY SAMPLE: Twenty normal-hearing participants and twenty participants with a range of mild to moderate hearing losses.
RESULTS: Delay tolerance was significantly greater for the participants with hearing loss in two out of three voice conditions. The average slopes of annoyance ratings were negatively correlated with the degree of hearing loss across participants. A small trend of higher tolerance of delay by experienced users of hearing aids in comparison to new users was not significant.
CONCLUSION: The increased tolerance of processing delay for speech production and perception with hearing loss and reduced sensitivity to changes in delay with stronger hearing loss may be beneficial for novel algorithms for hearing devices but the setup used in this study differed from commercial hearing aids.
PMID: 28838277 [PubMed - as supplied by publisher]
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Tolerable delay for speech production and perception: effects of hearing ability and experience with hearing aids.
Related Articles |
Tolerable delay for speech production and perception: effects of hearing ability and experience with hearing aids.
Int J Audiol. 2017 Aug 24;:1-8
Authors: Goehring T, Chapman JL, Bleeck S, Monaghan JJM
Abstract
OBJECTIVE: Processing delay is one of the important factors that limit the development of novel algorithms for hearing devices. In this study, both normal-hearing listeners and listeners with hearing loss were tested for their tolerance of processing delay up to 50 ms using a real-time setup for own-voice and external-voice conditions based on linear processing to avoid confounding effects of time-dependent gain.
DESIGN: Participants rated their perceived subjective annoyance for each condition on a 7-point Likert scale.
STUDY SAMPLE: Twenty normal-hearing participants and twenty participants with a range of mild to moderate hearing losses.
RESULTS: Delay tolerance was significantly greater for the participants with hearing loss in two out of three voice conditions. The average slopes of annoyance ratings were negatively correlated with the degree of hearing loss across participants. A small trend of higher tolerance of delay by experienced users of hearing aids in comparison to new users was not significant.
CONCLUSION: The increased tolerance of processing delay for speech production and perception with hearing loss and reduced sensitivity to changes in delay with stronger hearing loss may be beneficial for novel algorithms for hearing devices but the setup used in this study differed from commercial hearing aids.
PMID: 28838277 [PubMed - as supplied by publisher]
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More Infants are Benefiting from Newborn Hearing Screenings
Early diagnosis of hearing loss, starting with newborn screening, has been shown to reduce deficits in receptive and expressive language that occur in unscreened children who subsequently receive a clinical diagnosis of hearing loss. (Pediatrics. 2016;137[1].) The authors of the report hope the lessons learned from the success of newborn hearing screening programs could be applied to early detection and intervention initiatives for critical congenital heart disease and other health conditions.
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More Infants are Benefiting from Newborn Hearing Screenings
Early diagnosis of hearing loss, starting with newborn screening, has been shown to reduce deficits in receptive and expressive language that occur in unscreened children who subsequently receive a clinical diagnosis of hearing loss. (Pediatrics. 2016;137[1].) The authors of the report hope the lessons learned from the success of newborn hearing screening programs could be applied to early detection and intervention initiatives for critical congenital heart disease and other health conditions.
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More Infants are Benefiting from Newborn Hearing Screenings
Early diagnosis of hearing loss, starting with newborn screening, has been shown to reduce deficits in receptive and expressive language that occur in unscreened children who subsequently receive a clinical diagnosis of hearing loss. (Pediatrics. 2016;137[1].) The authors of the report hope the lessons learned from the success of newborn hearing screening programs could be applied to early detection and intervention initiatives for critical congenital heart disease and other health conditions.
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Παρασκευή 25 Αυγούστου 2017
Human Frequency Following Responses to Vocoded Speech
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Hearing Threshold Shifts Among 11- to 35-Year-Olds With Early Hearing Impairment
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Combined Electric and Acoustic Stimulation With Hearing Preservation: Effect of Cochlear Implant Low-Frequency Cutoff on Speech Understanding and Perceived Listening Difficulty
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Binaural Interaction Effects of 30–50 Hz Auditory Steady State Responses
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Pre- and Postoperative Binaural Unmasking for Bimodal Cochlear Implant Listeners
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