Alexandros Sfakianakis
Anapafseos 5 . Agios Nikolaos
Crete.Greece.72100
2841026182
Anapafseos 5 . Agios Nikolaos
Crete.Greece.72100
2841026182
6948891480
Πέμπτη 11 Μαΐου 2017
Current FDA-approved injection pattern versus targeted peripheral nerve–directed injection pattern. The current FDA-approved injection pattern includes chemodenervation of 7 head and neck muscle groups (A–C). The total units of BOTOX injected for each site bilaterally include: corrugators 10U, procerus 5U, frontalis 20U (A), temporalis 40U (B), occipitalis 30U, cervical paraspinal 20U, and trapezius 30U (C). By comparison, peripheral nerve–directed BOTOX injection targets fewer sites with a smaller total quantity of BOTOX (D–F). The total units of BOTOX injected for each site bilaterally include: supraorbital nerve/supratrochlear nerve 25U (D), zygomaticotemporal nerve 37.5U (E), and greater occipital nerve 50U (F). Source Targeted Peripheral Nerve-directed Onabotulinumtoxin A Injection for Effective Long-term Therapy for Migraine Headache
Autologous Platelet-rich Plasma Glue : Seroma and hematoma formations are the most common complications after plastic surgery. The aim of this study was to assess the efficacy of autologous platelet-rich plasma (A-PRP) glue to reduce postoperative wound complications and improve surgical outcomes.
http://otorhinolaryngology-crete.blogspot.com/2017/05/autologous-platelet-rich-plasma-glue.html
Alexandros Sfakianakis
Anapafseos 5 . Agios Nikolaos
Crete.Greece.72100
2841026182
Anapafseos 5 . Agios Nikolaos
Crete.Greece.72100
2841026182
6948891480
Spectrographic and Electroglottographic Findings of Religious Vocal Performers in Düzce Province of Turkey
Source:Journal of Voice
Author(s): Sahin Saruhan, Ender Guclu, Ali Ertugrul
ObjectivesIn the present study, the register phenomenon and spectral characteristics of vocal styles used by vocal performers in a Muslim community were investigated.MethodsElectroglottography was performed on 17 subjects, whereas spectrography was performed on 18 subjects, and 16 of these subjects participated in both parts of the study.ResultsWe observed that the participants used chest register in voice production and there was no change in this situation related to the increase in frequency. It was found that Western opera singers' formant cluster did not exist in their normal speech and performance voice spectrum. Generally, there were clear energy peaks at the 3- to 4-kHz spectral region in their performance voice, but this peak did not appear in the daily speech voice.ConclusionsIt was concluded that a bunched F3, F4, and F5 is a critical prerequisite in the production of a calling formant cluster. However, it was observed that in certain cases, this phenomenon was produced only with bunching of F4 and F5 or with an increased F4 energy level. Although an increase in F3 assists in the production of the calling formant cluster, the main source of the calling formant cluster was the decrease in F4 and F5 frequencies, and the main contribution came from F5, which was fairly decreased. Moreover, it was found that a decreased closed quotient value caused a raise in the relative level of calling formant cluster (Lcfc) value. In conclusion, our results indicate that the production of the calling formant cluster is based not only on vocal tract properties but also on glottal settings.
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Editorial Board
Source:Journal of Voice, Volume 31, Issue 3
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Calendar Listings
Source:Journal of Voice, Volume 31, Issue 3
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Validation and Evaluation of the Effects of Semi-Occluded Face Mask Straw Phonation Therapy Methods on Aerodynamic Parameters in Comparison to Traditional Methods
Source:Journal of Voice, Volume 31, Issue 3
Author(s): Randal Mills, Cameron Hays, Jehad Al-Ramahi, Jack J. Jiang
Objectives/HypothesisTraditional semi-occluded vocal tract therapies have the benefit of improving vocal economy but, do not allow for connected speech during rehabilitation. In this study, we introduce a semi-occluded face mask (SOFM) as an improvement upon current methods. This novel technique allows for normal speech production, and will make the transition to everyday speech more natural. We hypothesize that use of an SOFM will lead to the same gains in vocal economy seen in traditional methods.Study DesignRepeated measures excised canine larynx bench experiment with each larynx subject to controls and a randomized series of experimental conditions.MethodsAerodynamic data were collected for 30 excised canine larynges. The larynges were subjected to conditions including a control, two tube extensions (15 and 30 cm), and two tube diameters (6.5 and 17 mm) both with and without the SOFM. Results were compared between groups and between conditions within each group.ResultsNo significant differences were found between the phonation threshold pressure and phonation threshold flow measurements obtained with or without the SOFM throughout all extension and constriction levels. Significant differences in phonation threshold pressure and phonation threshold flow were observed when varying the tube diameter while the same comparison for varying the tube length at least trended toward significance.ConclusionsThis study suggests that a SOFM can be used to elicit the same gains in vocal economy as what has been seen with traditional semi-occluded vocal tract methods. Future studies should test this novel technique in human subjects to validate its use in a clinical setting.
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Voice Quality After a Semi-Occluded Vocal Tract Exercise With a Ventilation Mask in Contemporary Commercial Singers: Acoustic Analysis and Self-Assessments
Source:Journal of Voice, Volume 31, Issue 3
Author(s): Marco Fantini, Giovanni Succo, Erika Crosetti, Alfonso Borragán Torre, Roberto Demo, Franco Fussi
ObjectiveThe current study aimed at investigating the immediate effects of a semi-occluded vocal tract exercise with a ventilation mask in a group of contemporary commercial singers.Study DesignA randomized controlled study was carried out.MethodsThirty professional or semi-professional singers with no voice complaints were randomly divided into two groups on recruitment: an experimental group and a control group. The same warm-up exercise was performed by the experimental group with an occluded ventilation mask placed over the nose and the mouth and by the control group without the ventilation mask. Voice was recorded before and after the exercise. Acoustic and self-assessment analysis were accomplished. The acoustic parameters of the voice samples recorded before and after training were compared, as well as the parameters' variations between the experimental and the control group. Self-assessment results of the experimental and the control group were compared too.ResultsSignificant changes after the warm-up exercise included jitter, shimmer, and singing power ratio (SPR) in the experimental group. No significant changes were recorded in the control group. Significant differences between the experimental and the control group were found for ΔShimmer and ΔSPR. Self-assessment analysis confirmed a significantly higher phonatory comfort and voice quality perception for the experimental group.ConclusionsThe results of the present study support the immediate advantageous effects on singing voice of a semi-occluded vocal tract exercise with a ventilation mask in terms of acoustic quality, phonatory comfort, and voice quality perception in contemporary commercial singers. Long-term effects still remain to be studied.
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Clinical balance scales indicate worse postural control in people with Parkinson’s disease who exhibit freezing of gait compared to those who do not: a meta-analysis
Publication date: Available online 11 May 2017
Source:Gait & Posture
Author(s): Esther M.J. Bekkers, Bauke W. Dijkstra, Kim Dockx, Elke Heremans, Sabine M.P. Verschueren, Alice Nieuwboer
Postural instability and freezing of gait (FOG) are key features of Parkinson’s disease (PD) that are closely related to falls. Uncovering the postural control differences between individuals with and without FOG contributes to our understanding of the relationship between these phenomena. The objective of this meta-analysis was to investigate whether postural control deficits, as detected by clinical balance scales, were more apparent in FOG+ compared to FOG-. Furthermore, we aimed to identify whether different scales were equally sensitive to postural control deficits and whether medication affected postural control differentially in each subgroup. Relevant articles were identified via five electronic databases. We performed a meta-analysis on nine studies which reported clinical balance scale scores in 249 freezers and 321 non-freezers. Methodological analysis showed that in 5/9 studies disease duration differed between subgroups. Despite this drawback, postural control was found to be significantly worse in FOG+ compared to FOG-. All included clinical balance scales were found to be sufficiently sensitive to detect the postural control differences. Levodopa did not differentially affect postural control (p=0.21), as in both medication states FOG+ had worse postural stability than FOG-. However, this finding warrants a cautious interpretation given the limitations of the studies included. From subscore analysis, we found that reactive and dynamic postural control were the most affected postural control systems in FOG+. We conclude that our findings provide important evidence for pronounced postural instability in individuals with FOG, which can be easily picked up with clinical evaluation tools. Posturographic measures in well-matched subgroups are needed to highlight the exact nature of these deficits.
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Source:Gait & Posture
Author(s): Esther M.J. Bekkers, Bauke W. Dijkstra, Kim Dockx, Elke Heremans, Sabine M.P. Verschueren, Alice Nieuwboer
Postural instability and freezing of gait (FOG) are key features of Parkinson’s disease (PD) that are closely related to falls. Uncovering the postural control differences between individuals with and without FOG contributes to our understanding of the relationship between these phenomena. The objective of this meta-analysis was to investigate whether postural control deficits, as detected by clinical balance scales, were more apparent in FOG+ compared to FOG-. Furthermore, we aimed to identify whether different scales were equally sensitive to postural control deficits and whether medication affected postural control differentially in each subgroup. Relevant articles were identified via five electronic databases. We performed a meta-analysis on nine studies which reported clinical balance scale scores in 249 freezers and 321 non-freezers. Methodological analysis showed that in 5/9 studies disease duration differed between subgroups. Despite this drawback, postural control was found to be significantly worse in FOG+ compared to FOG-. All included clinical balance scales were found to be sufficiently sensitive to detect the postural control differences. Levodopa did not differentially affect postural control (p=0.21), as in both medication states FOG+ had worse postural stability than FOG-. However, this finding warrants a cautious interpretation given the limitations of the studies included. From subscore analysis, we found that reactive and dynamic postural control were the most affected postural control systems in FOG+. We conclude that our findings provide important evidence for pronounced postural instability in individuals with FOG, which can be easily picked up with clinical evaluation tools. Posturographic measures in well-matched subgroups are needed to highlight the exact nature of these deficits.
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Clinical balance scales indicate worse postural control in people with Parkinson’s disease who exhibit freezing of gait compared to those who do not: a meta-analysis
Publication date: Available online 11 May 2017
Source:Gait & Posture
Author(s): Esther M.J. Bekkers, Bauke W. Dijkstra, Kim Dockx, Elke Heremans, Sabine M.P. Verschueren, Alice Nieuwboer
Postural instability and freezing of gait (FOG) are key features of Parkinson’s disease (PD) that are closely related to falls. Uncovering the postural control differences between individuals with and without FOG contributes to our understanding of the relationship between these phenomena. The objective of this meta-analysis was to investigate whether postural control deficits, as detected by clinical balance scales, were more apparent in FOG+ compared to FOG-. Furthermore, we aimed to identify whether different scales were equally sensitive to postural control deficits and whether medication affected postural control differentially in each subgroup. Relevant articles were identified via five electronic databases. We performed a meta-analysis on nine studies which reported clinical balance scale scores in 249 freezers and 321 non-freezers. Methodological analysis showed that in 5/9 studies disease duration differed between subgroups. Despite this drawback, postural control was found to be significantly worse in FOG+ compared to FOG-. All included clinical balance scales were found to be sufficiently sensitive to detect the postural control differences. Levodopa did not differentially affect postural control (p=0.21), as in both medication states FOG+ had worse postural stability than FOG-. However, this finding warrants a cautious interpretation given the limitations of the studies included. From subscore analysis, we found that reactive and dynamic postural control were the most affected postural control systems in FOG+. We conclude that our findings provide important evidence for pronounced postural instability in individuals with FOG, which can be easily picked up with clinical evaluation tools. Posturographic measures in well-matched subgroups are needed to highlight the exact nature of these deficits.
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Source:Gait & Posture
Author(s): Esther M.J. Bekkers, Bauke W. Dijkstra, Kim Dockx, Elke Heremans, Sabine M.P. Verschueren, Alice Nieuwboer
Postural instability and freezing of gait (FOG) are key features of Parkinson’s disease (PD) that are closely related to falls. Uncovering the postural control differences between individuals with and without FOG contributes to our understanding of the relationship between these phenomena. The objective of this meta-analysis was to investigate whether postural control deficits, as detected by clinical balance scales, were more apparent in FOG+ compared to FOG-. Furthermore, we aimed to identify whether different scales were equally sensitive to postural control deficits and whether medication affected postural control differentially in each subgroup. Relevant articles were identified via five electronic databases. We performed a meta-analysis on nine studies which reported clinical balance scale scores in 249 freezers and 321 non-freezers. Methodological analysis showed that in 5/9 studies disease duration differed between subgroups. Despite this drawback, postural control was found to be significantly worse in FOG+ compared to FOG-. All included clinical balance scales were found to be sufficiently sensitive to detect the postural control differences. Levodopa did not differentially affect postural control (p=0.21), as in both medication states FOG+ had worse postural stability than FOG-. However, this finding warrants a cautious interpretation given the limitations of the studies included. From subscore analysis, we found that reactive and dynamic postural control were the most affected postural control systems in FOG+. We conclude that our findings provide important evidence for pronounced postural instability in individuals with FOG, which can be easily picked up with clinical evaluation tools. Posturographic measures in well-matched subgroups are needed to highlight the exact nature of these deficits.
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Clinical balance scales indicate worse postural control in people with Parkinson’s disease who exhibit freezing of gait compared to those who do not: a meta-analysis
Publication date: Available online 11 May 2017
Source:Gait & Posture
Author(s): Esther M.J. Bekkers, Bauke W. Dijkstra, Kim Dockx, Elke Heremans, Sabine M.P. Verschueren, Alice Nieuwboer
Postural instability and freezing of gait (FOG) are key features of Parkinson’s disease (PD) that are closely related to falls. Uncovering the postural control differences between individuals with and without FOG contributes to our understanding of the relationship between these phenomena. The objective of this meta-analysis was to investigate whether postural control deficits, as detected by clinical balance scales, were more apparent in FOG+ compared to FOG-. Furthermore, we aimed to identify whether different scales were equally sensitive to postural control deficits and whether medication affected postural control differentially in each subgroup. Relevant articles were identified via five electronic databases. We performed a meta-analysis on nine studies which reported clinical balance scale scores in 249 freezers and 321 non-freezers. Methodological analysis showed that in 5/9 studies disease duration differed between subgroups. Despite this drawback, postural control was found to be significantly worse in FOG+ compared to FOG-. All included clinical balance scales were found to be sufficiently sensitive to detect the postural control differences. Levodopa did not differentially affect postural control (p=0.21), as in both medication states FOG+ had worse postural stability than FOG-. However, this finding warrants a cautious interpretation given the limitations of the studies included. From subscore analysis, we found that reactive and dynamic postural control were the most affected postural control systems in FOG+. We conclude that our findings provide important evidence for pronounced postural instability in individuals with FOG, which can be easily picked up with clinical evaluation tools. Posturographic measures in well-matched subgroups are needed to highlight the exact nature of these deficits.
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Source:Gait & Posture
Author(s): Esther M.J. Bekkers, Bauke W. Dijkstra, Kim Dockx, Elke Heremans, Sabine M.P. Verschueren, Alice Nieuwboer
Postural instability and freezing of gait (FOG) are key features of Parkinson’s disease (PD) that are closely related to falls. Uncovering the postural control differences between individuals with and without FOG contributes to our understanding of the relationship between these phenomena. The objective of this meta-analysis was to investigate whether postural control deficits, as detected by clinical balance scales, were more apparent in FOG+ compared to FOG-. Furthermore, we aimed to identify whether different scales were equally sensitive to postural control deficits and whether medication affected postural control differentially in each subgroup. Relevant articles were identified via five electronic databases. We performed a meta-analysis on nine studies which reported clinical balance scale scores in 249 freezers and 321 non-freezers. Methodological analysis showed that in 5/9 studies disease duration differed between subgroups. Despite this drawback, postural control was found to be significantly worse in FOG+ compared to FOG-. All included clinical balance scales were found to be sufficiently sensitive to detect the postural control differences. Levodopa did not differentially affect postural control (p=0.21), as in both medication states FOG+ had worse postural stability than FOG-. However, this finding warrants a cautious interpretation given the limitations of the studies included. From subscore analysis, we found that reactive and dynamic postural control were the most affected postural control systems in FOG+. We conclude that our findings provide important evidence for pronounced postural instability in individuals with FOG, which can be easily picked up with clinical evaluation tools. Posturographic measures in well-matched subgroups are needed to highlight the exact nature of these deficits.
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Extramedullary Hematopoiesis Presenting as Bilateral Glomus Tympanicum-First Case Report in a Pediatric Patient and With Bilateral Presentation.
| Related Articles |
Extramedullary Hematopoiesis Presenting as Bilateral Glomus Tympanicum-First Case Report in a Pediatric Patient and With Bilateral Presentation.
Pediatr Dev Pathol. 2017 Jan 01;:1093526617704267
Authors: Chen LN, Espinel A, Reilly B, Luca DC
Abstract
To the best of our knowledge, this is the first case report of middle ear extramedullary hematopoiesis (EMH) in a pediatric patient as well as the first bilateral presentation reported in both children and adults. We report a 13-year-old African-American female with sickle cell disease who developed bilateral hearing loss, with magnetic resonance imaging findings consistent with bilateral glomus tympanicum (GT). Upon excisional biopsy, however, EMH was diagnosed histologically. Besides its novelty, this case highlights the importance of considering EMH in the differential diagnosis of GT including cases with bilateral presentation that may be otherwise highly suggestive of the familial form of GT.
PMID: 28488469 [PubMed - as supplied by publisher]
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Mutations in CDC14A, Encoding a Protein Phosphatase Involved in Hair Cell Ciliogenesis, Cause Autosomal-Recessive Severe to Profound Deafness.
   |
Related Articles |
Mutations in CDC14A, Encoding a Protein Phosphatase Involved in Hair Cell Ciliogenesis, Cause Autosomal-Recessive Severe to Profound Deafness.
Am J Hum Genet. 2016 Jun 02;98(6):1266-70
Authors: Delmaghani S, Aghaie A, Bouyacoub Y, El Hachmi H, Bonnet C, Riahi Z, Chardenoux S, Perfettini I, Hardelin JP, Houmeida A, Herbomel P, Petit C
Abstract
By genetic linkage analysis in a large consanguineous Iranian family with eleven individuals affected by severe to profound congenital deafness, we were able to define a 2.8 Mb critical interval (at chromosome 1p21.2-1p21.1) for an autosomal-recessive nonsyndromic deafness locus (DFNB). Whole-exome sequencing allowed us to identify a CDC14A biallelic nonsense mutation, c.1126C>T (p.Arg376(∗)), which was present in the eight clinically affected individuals still alive. Subsequent screening of 115 unrelated individuals affected by severe or profound congenital deafness of unknown genetic cause led us to identify another CDC14A biallelic nonsense mutation, c.1015C>T (p.Arg339(∗)), in an individual originating from Mauritania. CDC14A encodes a protein tyrosine phosphatase. Immunofluorescence analysis of the protein distribution in the mouse inner ear showed a strong labeling of the hair cells' kinocilia. By using a morpholino strategy to knockdown cdc14a in zebrafish larvae, we found that the length of the kinocilia was reduced in inner-ear hair cells. Therefore, deafness caused by loss-of-function mutations in CDC14A probably arises from a morphogenetic defect of the auditory sensory cells' hair bundles, whose differentiation critically depends on the proper growth of their kinocilium.
PMID: 27259055 [PubMed - indexed for MEDLINE]
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Safety and tolerability of high-dose ulinastatin after 2-hour intravenous infusion in adult healthy Chinese volunteers: A randomized, double-blind, placebo-controlled, ascending-dose study
by Qian Chen, Chaoying Hu, Ye Liu, Yun Liu, Wei Wang, Hongchao Zheng, Lianchen Rong, Jingying Jia, Shixuan Sun, Chen Yu, Yan Mei Liu
Ulinastatin, is a broad-spectrum protease inhibitor purified from human urine, inhibits endogenous proteases such as trypsin, α-chymotrypsin, hyaluronidase, and plasmin. It is widely being used at increasingly higher doses for the treatment of acute or chronic pancreatitis, severe infection, and acute organ failure. We aimed to evaluate the safety and tolerability of high-dose ulinastatin in healthy volunteers in our single center, randomized, double-blind, placebo-controlled, single-dose escalation study. Fifty-one healthy Chinese subjects were enrolled in 9 dose cohorts (3×105 U, 6×105 U, 12×105 U, 20×105 U, 30×105 U, 45×105 U, 60×105 U, 70×105 U, or 80×105 U of ulinastatin) and randomized to UTI or matching placebo (n = 1). Each dose cohort was composed of 3–7 subjects. All subjects were required to have 2 h of intravenous infusion. Safety and tolerability were assessed throughout the study via monitoring of vital signs, physical examinations, clinical laboratory tests, 12-lead electrocardiograms, and interviews with the subjects about adverse events. Fifty-one subjects (35 men and 16 women) completed the study. A total of 13 AEs were reported by 10 subjects: 11 adverse events in the ulinastatin groups and 2 adverse events in the placebo group. Twelve of the adverse events were possibly related to the study drug. The most common drug-related adverse events included dizziness, pain at injection site, and a decrease in white blood cell count. All adverse events were of mild severity; none were serious. In conclusion, 2 hours of intravenous infusion of ulinastatin (3×105 to 80×105 U) was well tolerated by healthy Chinese subjects.from #Audiology via xlomafota13 on Inoreader http://ift.tt/2qwLGor
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Peripheral hearing loss reduces the ability of children to direct selective attention during multi-talker listening
Source:Hearing Research
Author(s): Emma Holmes, Padraig T. Kitterick, A. Quentin Summerfield
Restoring normal hearing requires knowledge of how peripheral and central auditory processes are affected by hearing loss. Previous research has focussed primarily on peripheral changes following sensorineural hearing loss, whereas consequences for central auditory processing have received less attention. We examined the ability of hearing-impaired children to direct auditory attention to a voice of interest (based on the talker's spatial location or gender) in the presence of a common form of background noise: the voices of competing talkers (i.e. during multi-talker, or “Cocktail Party” listening). We measured brain activity using electro-encephalography (EEG) when children prepared to direct attention to the spatial location or gender of an upcoming target talker who spoke in a mixture of three talkers. Compared to normally-hearing children, hearing-impaired children showed significantly less evidence of preparatory brain activity when required to direct spatial attention. This finding is consistent with the idea that hearing-impaired children have a reduced ability to prepare spatial attention for an upcoming talker. Moreover, preparatory brain activity was not restored when hearing-impaired children listened with their acoustic hearing aids. An implication of these findings is that steps to improve auditory attention alongside acoustic hearing aids may be required to improve the ability of hearing-impaired children to understand speech in the presence of competing talkers.
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Speak on time! Effects of a musical rhythmic training on children with hearing loss
Source:Hearing Research
Author(s): Céline Hidalgo, Simone Falk, Daniele Schön
This study investigates temporal adaptation in speech interaction in children with normal hearing and in children with cochlear implants (CIs) and/or hearing aids (HAs). We also address the question of whether musical rhythmic training can improve these skills in children with hearing loss (HL). Children named pictures presented on the screen in alternation with a virtual partner. Alternation rate (fast or slow) and the temporal predictability (match vs mismatch of stress occurrences) were manipulated. One group of children with normal hearing (NH) and one with HL were tested. The latter group was tested twice: once after 30 min of speech therapy and once after 30 min of musical rhythmic training. Both groups of children (NH and with HL) can adjust their speech production to the rate of alternation of the virtual partner. Moreover, while children with normal hearing benefit from the temporal regularity of stress occurrences, children with HL become sensitive to this manipulation only after rhythmic training. Rhythmic training may help children with HL to structure the temporal flow of their verbal interactions.
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Peripheral hearing loss reduces the ability of children to direct selective attention during multi-talker listening
Source:Hearing Research
Author(s): Emma Holmes, Padraig T. Kitterick, A. Quentin Summerfield
Restoring normal hearing requires knowledge of how peripheral and central auditory processes are affected by hearing loss. Previous research has focussed primarily on peripheral changes following sensorineural hearing loss, whereas consequences for central auditory processing have received less attention. We examined the ability of hearing-impaired children to direct auditory attention to a voice of interest (based on the talker's spatial location or gender) in the presence of a common form of background noise: the voices of competing talkers (i.e. during multi-talker, or “Cocktail Party” listening). We measured brain activity using electro-encephalography (EEG) when children prepared to direct attention to the spatial location or gender of an upcoming target talker who spoke in a mixture of three talkers. Compared to normally-hearing children, hearing-impaired children showed significantly less evidence of preparatory brain activity when required to direct spatial attention. This finding is consistent with the idea that hearing-impaired children have a reduced ability to prepare spatial attention for an upcoming talker. Moreover, preparatory brain activity was not restored when hearing-impaired children listened with their acoustic hearing aids. An implication of these findings is that steps to improve auditory attention alongside acoustic hearing aids may be required to improve the ability of hearing-impaired children to understand speech in the presence of competing talkers.
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Speak on time! Effects of a musical rhythmic training on children with hearing loss
Source:Hearing Research
Author(s): Céline Hidalgo, Simone Falk, Daniele Schön
This study investigates temporal adaptation in speech interaction in children with normal hearing and in children with cochlear implants (CIs) and/or hearing aids (HAs). We also address the question of whether musical rhythmic training can improve these skills in children with hearing loss (HL). Children named pictures presented on the screen in alternation with a virtual partner. Alternation rate (fast or slow) and the temporal predictability (match vs mismatch of stress occurrences) were manipulated. One group of children with normal hearing (NH) and one with HL were tested. The latter group was tested twice: once after 30 min of speech therapy and once after 30 min of musical rhythmic training. Both groups of children (NH and with HL) can adjust their speech production to the rate of alternation of the virtual partner. Moreover, while children with normal hearing benefit from the temporal regularity of stress occurrences, children with HL become sensitive to this manipulation only after rhythmic training. Rhythmic training may help children with HL to structure the temporal flow of their verbal interactions.
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Peripheral hearing loss reduces the ability of children to direct selective attention during multi-talker listening
Source:Hearing Research
Author(s): Emma Holmes, Padraig T. Kitterick, A. Quentin Summerfield
Restoring normal hearing requires knowledge of how peripheral and central auditory processes are affected by hearing loss. Previous research has focussed primarily on peripheral changes following sensorineural hearing loss, whereas consequences for central auditory processing have received less attention. We examined the ability of hearing-impaired children to direct auditory attention to a voice of interest (based on the talker's spatial location or gender) in the presence of a common form of background noise: the voices of competing talkers (i.e. during multi-talker, or “Cocktail Party” listening). We measured brain activity using electro-encephalography (EEG) when children prepared to direct attention to the spatial location or gender of an upcoming target talker who spoke in a mixture of three talkers. Compared to normally-hearing children, hearing-impaired children showed significantly less evidence of preparatory brain activity when required to direct spatial attention. This finding is consistent with the idea that hearing-impaired children have a reduced ability to prepare spatial attention for an upcoming talker. Moreover, preparatory brain activity was not restored when hearing-impaired children listened with their acoustic hearing aids. An implication of these findings is that steps to improve auditory attention alongside acoustic hearing aids may be required to improve the ability of hearing-impaired children to understand speech in the presence of competing talkers.
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Speak on time! Effects of a musical rhythmic training on children with hearing loss
Source:Hearing Research
Author(s): Céline Hidalgo, Simone Falk, Daniele Schön
This study investigates temporal adaptation in speech interaction in children with normal hearing and in children with cochlear implants (CIs) and/or hearing aids (HAs). We also address the question of whether musical rhythmic training can improve these skills in children with hearing loss (HL). Children named pictures presented on the screen in alternation with a virtual partner. Alternation rate (fast or slow) and the temporal predictability (match vs mismatch of stress occurrences) were manipulated. One group of children with normal hearing (NH) and one with HL were tested. The latter group was tested twice: once after 30 min of speech therapy and once after 30 min of musical rhythmic training. Both groups of children (NH and with HL) can adjust their speech production to the rate of alternation of the virtual partner. Moreover, while children with normal hearing benefit from the temporal regularity of stress occurrences, children with HL become sensitive to this manipulation only after rhythmic training. Rhythmic training may help children with HL to structure the temporal flow of their verbal interactions.
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Peripheral hearing loss reduces the ability of children to direct selective attention during multi-talker listening
Publication date: Available online 10 May 2017
Source:Hearing Research
Author(s): Emma Holmes, Padraig T. Kitterick, A. Quentin Summerfield
Restoring normal hearing requires knowledge of how peripheral and central auditory processes are affected by hearing loss. Previous research has focussed primarily on peripheral changes following sensorineural hearing loss, whereas consequences for central auditory processing have received less attention. We examined the ability of hearing-impaired children to direct auditory attention to a voice of interest (based on the talker's spatial location or gender) in the presence of a common form of background noise: the voices of competing talkers (i.e. during multi-talker, or “Cocktail Party” listening). We measured brain activity using electro-encephalography (EEG) when children prepared to direct attention to the spatial location or gender of an upcoming target talker who spoke in a mixture of three talkers. Compared to normally-hearing children, hearing-impaired children showed significantly less evidence of preparatory brain activity when required to direct spatial attention. This finding is consistent with the idea that hearing-impaired children have a reduced ability to prepare spatial attention for an upcoming talker. Moreover, preparatory brain activity was not restored when hearing-impaired children listened with their acoustic hearing aids. An implication of these findings is that steps to improve auditory attention alongside acoustic hearing aids may be required to improve the ability of hearing-impaired children to understand speech in the presence of competing talkers.
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Source:Hearing Research
Author(s): Emma Holmes, Padraig T. Kitterick, A. Quentin Summerfield
Restoring normal hearing requires knowledge of how peripheral and central auditory processes are affected by hearing loss. Previous research has focussed primarily on peripheral changes following sensorineural hearing loss, whereas consequences for central auditory processing have received less attention. We examined the ability of hearing-impaired children to direct auditory attention to a voice of interest (based on the talker's spatial location or gender) in the presence of a common form of background noise: the voices of competing talkers (i.e. during multi-talker, or “Cocktail Party” listening). We measured brain activity using electro-encephalography (EEG) when children prepared to direct attention to the spatial location or gender of an upcoming target talker who spoke in a mixture of three talkers. Compared to normally-hearing children, hearing-impaired children showed significantly less evidence of preparatory brain activity when required to direct spatial attention. This finding is consistent with the idea that hearing-impaired children have a reduced ability to prepare spatial attention for an upcoming talker. Moreover, preparatory brain activity was not restored when hearing-impaired children listened with their acoustic hearing aids. An implication of these findings is that steps to improve auditory attention alongside acoustic hearing aids may be required to improve the ability of hearing-impaired children to understand speech in the presence of competing talkers.
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Speak on time! Effects of a musical rhythmic training on children with hearing loss
Publication date: Available online 10 May 2017
Source:Hearing Research
Author(s): Céline Hidalgo, Simone Falk, Daniele Schön
This study investigates temporal adaptation in speech interaction in children with normal hearing and in children with cochlear implants (CIs) and/or hearing aids (HAs). We also address the question of whether musical rhythmic training can improve these skills in children with hearing loss (HL). Children named pictures presented on the screen in alternation with a virtual partner. Alternation rate (fast or slow) and the temporal predictability (match vs mismatch of stress occurrences) were manipulated. One group of children with normal hearing (NH) and one with HL were tested. The latter group was tested twice: once after 30 min of speech therapy and once after 30 min of musical rhythmic training. Both groups of children (NH and with HL) can adjust their speech production to the rate of alternation of the virtual partner. Moreover, while children with normal hearing benefit from the temporal regularity of stress occurrences, children with HL become sensitive to this manipulation only after rhythmic training. Rhythmic training may help children with HL to structure the temporal flow of their verbal interactions.
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Source:Hearing Research
Author(s): Céline Hidalgo, Simone Falk, Daniele Schön
This study investigates temporal adaptation in speech interaction in children with normal hearing and in children with cochlear implants (CIs) and/or hearing aids (HAs). We also address the question of whether musical rhythmic training can improve these skills in children with hearing loss (HL). Children named pictures presented on the screen in alternation with a virtual partner. Alternation rate (fast or slow) and the temporal predictability (match vs mismatch of stress occurrences) were manipulated. One group of children with normal hearing (NH) and one with HL were tested. The latter group was tested twice: once after 30 min of speech therapy and once after 30 min of musical rhythmic training. Both groups of children (NH and with HL) can adjust their speech production to the rate of alternation of the virtual partner. Moreover, while children with normal hearing benefit from the temporal regularity of stress occurrences, children with HL become sensitive to this manipulation only after rhythmic training. Rhythmic training may help children with HL to structure the temporal flow of their verbal interactions.
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Peripheral hearing loss reduces the ability of children to direct selective attention during multi-talker listening
Publication date: Available online 10 May 2017
Source:Hearing Research
Author(s): Emma Holmes, Padraig T. Kitterick, A. Quentin Summerfield
Restoring normal hearing requires knowledge of how peripheral and central auditory processes are affected by hearing loss. Previous research has focussed primarily on peripheral changes following sensorineural hearing loss, whereas consequences for central auditory processing have received less attention. We examined the ability of hearing-impaired children to direct auditory attention to a voice of interest (based on the talker's spatial location or gender) in the presence of a common form of background noise: the voices of competing talkers (i.e. during multi-talker, or “Cocktail Party” listening). We measured brain activity using electro-encephalography (EEG) when children prepared to direct attention to the spatial location or gender of an upcoming target talker who spoke in a mixture of three talkers. Compared to normally-hearing children, hearing-impaired children showed significantly less evidence of preparatory brain activity when required to direct spatial attention. This finding is consistent with the idea that hearing-impaired children have a reduced ability to prepare spatial attention for an upcoming talker. Moreover, preparatory brain activity was not restored when hearing-impaired children listened with their acoustic hearing aids. An implication of these findings is that steps to improve auditory attention alongside acoustic hearing aids may be required to improve the ability of hearing-impaired children to understand speech in the presence of competing talkers.
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Source:Hearing Research
Author(s): Emma Holmes, Padraig T. Kitterick, A. Quentin Summerfield
Restoring normal hearing requires knowledge of how peripheral and central auditory processes are affected by hearing loss. Previous research has focussed primarily on peripheral changes following sensorineural hearing loss, whereas consequences for central auditory processing have received less attention. We examined the ability of hearing-impaired children to direct auditory attention to a voice of interest (based on the talker's spatial location or gender) in the presence of a common form of background noise: the voices of competing talkers (i.e. during multi-talker, or “Cocktail Party” listening). We measured brain activity using electro-encephalography (EEG) when children prepared to direct attention to the spatial location or gender of an upcoming target talker who spoke in a mixture of three talkers. Compared to normally-hearing children, hearing-impaired children showed significantly less evidence of preparatory brain activity when required to direct spatial attention. This finding is consistent with the idea that hearing-impaired children have a reduced ability to prepare spatial attention for an upcoming talker. Moreover, preparatory brain activity was not restored when hearing-impaired children listened with their acoustic hearing aids. An implication of these findings is that steps to improve auditory attention alongside acoustic hearing aids may be required to improve the ability of hearing-impaired children to understand speech in the presence of competing talkers.
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Speak on time! Effects of a musical rhythmic training on children with hearing loss
Publication date: Available online 10 May 2017
Source:Hearing Research
Author(s): Céline Hidalgo, Simone Falk, Daniele Schön
This study investigates temporal adaptation in speech interaction in children with normal hearing and in children with cochlear implants (CIs) and/or hearing aids (HAs). We also address the question of whether musical rhythmic training can improve these skills in children with hearing loss (HL). Children named pictures presented on the screen in alternation with a virtual partner. Alternation rate (fast or slow) and the temporal predictability (match vs mismatch of stress occurrences) were manipulated. One group of children with normal hearing (NH) and one with HL were tested. The latter group was tested twice: once after 30 min of speech therapy and once after 30 min of musical rhythmic training. Both groups of children (NH and with HL) can adjust their speech production to the rate of alternation of the virtual partner. Moreover, while children with normal hearing benefit from the temporal regularity of stress occurrences, children with HL become sensitive to this manipulation only after rhythmic training. Rhythmic training may help children with HL to structure the temporal flow of their verbal interactions.
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Source:Hearing Research
Author(s): Céline Hidalgo, Simone Falk, Daniele Schön
This study investigates temporal adaptation in speech interaction in children with normal hearing and in children with cochlear implants (CIs) and/or hearing aids (HAs). We also address the question of whether musical rhythmic training can improve these skills in children with hearing loss (HL). Children named pictures presented on the screen in alternation with a virtual partner. Alternation rate (fast or slow) and the temporal predictability (match vs mismatch of stress occurrences) were manipulated. One group of children with normal hearing (NH) and one with HL were tested. The latter group was tested twice: once after 30 min of speech therapy and once after 30 min of musical rhythmic training. Both groups of children (NH and with HL) can adjust their speech production to the rate of alternation of the virtual partner. Moreover, while children with normal hearing benefit from the temporal regularity of stress occurrences, children with HL become sensitive to this manipulation only after rhythmic training. Rhythmic training may help children with HL to structure the temporal flow of their verbal interactions.
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Stem Cell Cure For Tinnitus
For those who suffer from tinnitus, life can be a very frustrating experience. As day after day goes by, those with this condition often feel as if there is no hope that they will be cured. However, as researchers have studied this condition over the years, the prospect of using stem cells has emerged as a promising prospect. After much work and analysis, research scientists at Kyoto University in Japan may have finally found a stem cell cure for tinnitus.
Restoring Damaged Cells
In this research, scientists discovered numerous ways in which damaged cells can be restored using stem cells. By restoring damaged hair cells in the cochlea, transplanted stem cells have shown promise by being able to grow from the damaged part of the auditory nerve to the brain stem, restoring auditory function with remarkable efficiency and offering the real possibility a stem cell cure for tinnitus can be found.
The Key to Success
While in years past a stem cell cure for tinnitus seemed out of reach, one change to the procedure has seemed to make all the difference. In past experiments, the majority of stem cells died due to being implanted underneath the glial scar. But in the most recent experiments, success was found by implanting the cells on the surface of the glial scar, enabling the cells to thrive and grow on the surface instead of underneath it. By implementing this one change in the procedure, researchers found much better success while also showing a stem cell cure for tinnitus is possible to achieve.
What’s the Future?
Due to the success of this procedure, scientists now know there is much greater success ahead when it comes to finding a stem cell cure for tinnitus. By using the surface stem cell transplant method, it now becomes possible to preserve the stem cells long enough so that they can grow and multiply. As a result, normal functioning of the connection between the ear and central nervous system once again becomes possible. When this occurs, the symptoms of tinnitus can be lessened or even eliminated. In addition to this, it’s quite possible the connection between the ear and brain could be improved, thus allowing normal functioning. However, since this would disturb the original process, scientists learned how to establish the ear-brain connection with as little disturbance as possible. While tinnitus can be frustrating, it’s clear this new treatment offers hope to those dealing with this condition.
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Right-or left-handedness affects sign language comprehension
The speed at which sign language users understand what others are 'saying' to them depends on whether the conversation partners are left- or right-handed, a new study has found.
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Right-or left-handedness affects sign language comprehension
The speed at which sign language users understand what others are 'saying' to them depends on whether the conversation partners are left- or right-handed, a new study has found.
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Right-or left-handedness affects sign language comprehension
The speed at which sign language users understand what others are 'saying' to them depends on whether the conversation partners are left- or right-handed, a new study has found.
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Early Diagnosis of CAPOS Syndrome Before Acute-Onset Ataxia-Review of the Literature and a New Family.
| Related Articles |
Early Diagnosis of CAPOS Syndrome Before Acute-Onset Ataxia-Review of the Literature and a New Family.
Pediatr Neurol. 2017 Jan 25;:
Authors: Duat Rodriguez A, Prochazkova M, Santos Santos S, Rubio Cabezas O, Cantarin Extremera V, Gonzalez-Gutierrez-Solana L
Abstract
BACKGROUND: CAPOS syndrome (cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss) is a rare disease that has been reported in 22 patients so far. In all cases, the mutation c.2452G>A (p.Glu818Lys) in the ATP1A3 gene was identified. Patients typically present at an early age with an acute-onset fever-induced episode of ataxia frequently associated with encephalopathy and weakness. They usually present one to three episodes. The acute symptoms improve within days, but most patients show slow progression afterward.
METHODS: We describe three new patients, a woman and her two sons diagnosed with CAPOS syndrome. A systematic review of literature on all reported cases was performed.
RESULTS: The first son presented with acute-onset ataxia, encephalopathy, and sensorineural hearing loss, induced by febrile illness. The second one developed generalized areflexia and mild instability without an acute episode. The mother had been previously diagnosed with sensorineural hearing loss and optic nerve atrophy. The c.2452G>A mutation in ATP1A3 was found in all three cases.
CONCLUSION: Only 25 Individuals with CAPOS syndrome have been reported, including our family. This is the first time a Spanish family has been described. The fact that both siblings were assessed before the first acute-onset episode contributes to the description of early symptoms and signs of the disease, which could aid early diagnosis and management before the onset of acute episodes.
PMID: 28483396 [PubMed - as supplied by publisher]
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Novel missense mutation in the bZIP transcription factor, MAF, associated with congenital cataract, developmental delay, seizures and hearing loss (Aymé-Gripp syndrome).
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Novel missense mutation in the bZIP transcription factor, MAF, associated with congenital cataract, developmental delay, seizures and hearing loss (Aymé-Gripp syndrome).
BMC Med Genet. 2017 May 08;18(1):52
Authors: Javadiyan S, Craig JE, Sharma S, Lower KM, Casey T, Haan E, Souzeau E, Burdon KP
Abstract
BACKGROUND: Cataract is a major cause of severe visual impairment in childhood. The purpose of this study was to determine the genetic cause of syndromic congenital cataract in an Australian mother and son.
METHOD: Fifty-one genes associated with congenital cataract were sequenced in the proband using a custom Ampliseq library on the Ion Torrent Personal Genome Machine (PGM). Reads were aligned against the human genome (hg19) and variants were annotated. Variants were prioritised for validation by Sanger sequencing if they were novel, rare or previously reported to be associated with paediatric cataract and were predicted to be protein changing. Variants were assessed for segregation with the phenotype in the affected mother.
RESULT: A novel likely pathogenic variant was identified in the transactivation domain of the MAF gene (c.176C > G, p.(Pro59Arg)) in the proband and his affected mother., but was absent in 326 unrelated controls and absent from public variant databases.
CONCLUSION: The MAF variant is the likely cause of the congenital cataract, Asperger syndrome, seizures, hearing loss and facial characteristics in the proband, providinga diagnosis of Aymé-Gripp syndrome for the family.
PMID: 28482824 [PubMed - in process]
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Novel compound heterozygous MYO7A mutations in Moroccan families with autosomal recessive non-syndromic hearing loss.
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Novel compound heterozygous MYO7A mutations in Moroccan families with autosomal recessive non-syndromic hearing loss.
PLoS One. 2017;12(5):e0176516
Authors: Bakhchane A, Charif M, Bousfiha A, Boulouiz R, Nahili H, Rouba H, Charoute H, Lenaers G, Barakat A
Abstract
The MYO7A gene encodes a protein belonging to the unconventional myosin super family. Mutations within MYO7A can lead to either non syndromic hearing loss or to the Usher syndrome type 1B (USH1B). Here, we report the results of genetic analyses performed on Moroccan families with autosomal recessive non syndromic hearing loss that identified two families with compound heterozygous MYO7A mutations. Five mutations (c.6025delG, c.6229T>A, c.3500T>A, c.5617C>T and c.4487C>A) were identified in these families, the latter presenting two differently affected branches. Multiple bioinformatics programs and molecular modelling predicted the pathogenic effect of these mutations. In conclusion, the absence of vestibular and retinal symptom in the affected patients suggests that these families have the isolated non-syndromic hearing loss DFNB2 (nonsyndromic autosomal recessive hearing loss) presentation, instead of USH1B.
PMID: 28472130 [PubMed - in process]
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Sensorineural hearing loss in patients with chronic suppurative otitis media: Is there a significant correlation?
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Sensorineural hearing loss in patients with chronic suppurative otitis media: Is there a significant correlation?
Electron Physician. 2017 Feb;9(2):3823-3827
Authors: Amali A, Hosseinzadeh N, Samadi S, Nasiri S, Zebardast J
Abstract
INTRODUCTION: Hearing loss as a sequel of chronic suppurative otitis media (CSOM) is often conductive, but recent studies have found an additional sensorineural component in these patients, thus demonstrating inner ear damage. The aim of the study was to determine the association between CSOM and sensorineural hearing loss (SNHL) and to assess the influence of patient's age, duration of disease, and presence of cholesteatoma and ossicular erosion on the degree of SNHL.
METHODS: In a retrospective study, the medical records of 119 patients who underwent surgery was reviewed. Seventy patients met the inclusion criteria of unilateral otorrhea, normal contralateral ear on otoscopy, and age between 10-65 years with no history of head trauma or ear surgery or familial hearing loss. Bone conduction (BC) thresholds for affected and contralateral ear were measured at frequencies of 500, 1000, 2000, and 4000 Hz. Data analysis was performed using SPSS 13 with independent-samples t-test, Pearson correlation test, and two-tailed analysis. A p ≤ 0.05 was considered statistically significant.
RESULTS: Significant higher BC thresholds were found in the affected ear than in the normal ear for each frequency (p < 0.001), which increased with increasing frequency (7.00 dB at the 500 Hz and 9.71 dB at the 4000 Hz). There was a significant correlation between age and degree of SNHL (r = 0.422, p < 0.001) but no significant correlation was in duration of the disease (r = 0.119, p > 0.05). There was no relationship between presence of cholesteatoma and ossicular erosion with SNHL (p > 0.05).
CONCLUSION: These findings demonstrate that CSOM is associated with some degree of SNHL and cochlear damage, and higher frequencies are more affected. Aging can act as a precipitating factor in this pathological process.
PMID: 28465813 [PubMed - in process]
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Otoacoustic Emissions in Rural Nicaragua: Cost Analysis and Implications for Newborn Hearing Screening.
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Otoacoustic Emissions in Rural Nicaragua: Cost Analysis and Implications for Newborn Hearing Screening.
Otolaryngol Head Neck Surg. 2017 May;156(5):877-885
Authors: Wong LY, Espinoza F, Alvarez KM, Molter D, Saunders JE
Abstract
Objective (1) Determine the incidence and risk factors for congenital hearing loss. (2) Perform cost analysis of screening programs. Study Design Proportionally distributed cross-sectional survey. Setting Jinotega, Nicaragua. Subjects and Methods Otoacoustic emissions (OAEs) were used to screen 640 infants <6 months of age from neonatal intensive care unit, institutional, and home birth settings. Data on 15 risk factors were analyzed. Cost of 4 implementation strategies was studied: universal screening, screening at the regional health center (RHC), targeted screening, and screening at the RHC plus targeted screening. Cost-effectiveness analysis over 10 years was based on disability-adjusted life year estimates, with the World Health Organization standard of cost-effectiveness ratio (CER) / gross domestic product (GDP) <3, with GDP set at $4884.15. Results Thirty-eight infants failed the initial OAE (5.94%). In terms of births, 325 (50.8%) were in the RHC, 69 (10.8%) in the neonatal intensive care unit, and 29 (4.5%) at home. Family history and birth defect were significant in univariate analysis; birth defect was significant in multivariate analysis. Cost-effectiveness analysis demonstrated that OAE screening is cost-effective without treatment (CER/GDP = 0.06-2.00) and with treatment (CER/GDP = 0.58-2.52). Conclusions Our rate of OAE failures was comparable to those of developed countries and lower than hearing loss rates noted among Nicaraguan schoolchildren, suggesting acquired or progressive etiology in the latter. Birth defects and familial hearing loss correlated with OAE failure. OAE screening of infants is feasible and cost-effective in rural Nicaragua, although highly influenced by estimated hearing loss severity in identified infants and the high travel costs incurred in a targeted screening strategy.
PMID: 28457225 [PubMed - in process]
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Screening of Myo7A Mutations in Iranian Patients with Autosomal Recessive Hearing Loss from West of Iran.
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Screening of Myo7A Mutations in Iranian Patients with Autosomal Recessive Hearing Loss from West of Iran.
Iran J Public Health. 2017 Jan;46(1):76-82
Authors: Asgharzade S, Reiisi S, Tabatabaiefar MA, Chaleshtori MH
Abstract
BACKGROUND: Hearing loss (HL) is the most frequent neurosensory impairment. HL is highly heterogeneous defect. This disorder affects 1 out of 500 newborns. This study aimed to determine the role of DFNB2 locus and frequency of MYO7A gene mutations in a population from west of Iran.
METHODS: Thirty families investigated in Shahrekord University of Medical Sciences in 2014, genetic linkage analysis via four short tandem repeat markers linked to MYO7A was performed for two consanguineous families originating from Hamedan (family-13) and Chaharmahal-Bakhtiari (family-32) provinces of Iran, co-segregating autosomal recessive HL and showed no mutation in GJB2 gene in our preliminary investigation. All 49 coding exons and exon- intron boundaries of the MYO7A gene were amplified by PCR and analyzed using direct DNA sequencing.
RESULTS: Two of families displayed linkage to DFNB2. Family-13 segregated a homozygous missense mutation (c.6487G>A) in exon 48 that results in a p.G2163S amino acid substitution in C-terminal domain of the myosin VIIA protein. While family-32 segregated a homozygous nonsense mutation (c.448 C>T) in exon five, resulting in a premature truncation at amino acid position 150 (p.Arg150X) in the motor domain of this protein.
CONCLUSION: Mutation frequency of MYO7A gene in different populations of Iran as well as cause of HL in most cases are still unknown and more extensive studies have to be done.
PMID: 28451532 [PubMed - in process]
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Expression of C-type lectin receptor mRNA in chronic otitis media with cholesteatoma.
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Related Articles |
Expression of C-type lectin receptor mRNA in chronic otitis media with cholesteatoma.
Acta Otolaryngol. 2017 Jun;137(6):581-587
Authors: Kim SH, Han SH, Byun JY, Park MS, Kim YI, Yeo SG
Abstract
CONCLUSIONS: The levels of expression of various C-type lectin receptors (CLRs) messenger ribo nucleic acids (mRNAs) were significantly higher in cholesteatomas than in normal skin, suggesting that these CLRs may be involved in the pathogenesis of cholesteatoma.
OBJECTIVES: Altered expression of pattern recognition receptors may be associated with immune responses in patients with cholesteatoma. This study assessed the levels of expression of CLR mRNAs in normal skin and in cholesteatoma.
METHODS: Cholesteatoma specimens were obtained from 38 patients with acquired cholesteatoma. The levels of expression of various CLR mRNAs were assessed quantitatively using real-time RT-PCR (Reverse transcription polymerase chain reaction) and correlated with age, sex, the presence of bacteria, hearing level, frequency of surgery, and degree of ossicle destruction.
RESULTS: The levels of CD206 (cluster of differentiation 206), DEC-205 (Dendritic and epithelial cell-205), MGL (monoacylglycerol lipase), CLEC5A (C-type lectin domain family 5 member A), Dectin-2 (dendrite cell-associated C-type lectin-2), BDCA2 (Blood dendritic cell antigen 2), Mincle, DCIR (dendritic cell immunoreceptor), Dectin-1, MICL (Myeloid inhibitory C type-like lectin), and CLEC12B (C-type lectin domain family 12, member B) mRNAs were significantly higher in cholesteatoma than in control skin samples (p < 0.05). The levels of CLEC5A (C-type lectin domain family 5 member) and Dectin-1 mRNAs were significantly higher in cholesteatomas with ≥2 than ≤1 destroyed ossicles (p < 0.05), and the levels of MGL, Mincle, Dectin-1, and CLEC12B mRNAs were significantly higher in recurrent than initial cholesteatoma specimens (p < 0.05). The level of CLEC5A mRNAs was significantly higher in patients with severe than mild-to-moderate hearing loss (p < 0.05).
PMID: 28440726 [PubMed - in process]
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Phenome-wide association study for CYP2A6 alleles: rs113288603 is associated with hearing loss symptoms in elderly smokers.
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Phenome-wide association study for CYP2A6 alleles: rs113288603 is associated with hearing loss symptoms in elderly smokers.
Sci Rep. 2017 Apr 21;7(1):1034
Authors: Polimanti R, Jensen KP, Gelernter J
Abstract
To identify novel phenotypic associations related to Cytochrome P450 Family 2 Subfamily A Member 6 (CYP2A6), we investigated the human phenome in a total of 11,271 individuals. Initially, we conducted a phenome-wide association study in 3,401 nicotine-exposed elderly subjects considering 358 phenotypic traits. We identified a significant association between CYP2A6 rs113288603 and hearing loss symptoms (p = 5.75 × 10(-5)). No association was observed in a sample of 3,245 nicotine-unexposed individuals from the same discovery cohort, consistent with the conclusion that the finding is related to CYP2A6 involvement in nicotine metabolism. Consistent results were obtained (p < 0.1) in an independent sample of 2,077 nicotine-exposed elderly subjects, and similarly, no significance was observed in the nicotine-unexposed sample (n = 2,548) of the replication cohort. Additional supporting evidence for this association was provided by gene expression data: rs113288603 is associated with increased CYP2A6 expression in cerebellar hemispheres (p = 7.8 × 10(-4)). There is a well-known correlation between smoking and age-related hearing loss. Cigarette smoking is associated with structural changes in the brain and CYP2A6 mediates these changes. In this context, the regulatory role of rs113288603 in cerebellum appears to be consistent with the known involvement of this brain region in auditory function.
PMID: 28432340 [PubMed - in process]
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TBC1D24 Mutations in a Sibship with Multifocal Polymyoclonus.
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TBC1D24 Mutations in a Sibship with Multifocal Polymyoclonus.
Tremor Other Hyperkinet Mov (N Y). 2017;7:452
Authors: Ngoh A, Bras J, Guerreiro R, McTague A, Ng J, Meyer E, Chong WK, Boyd S, MacLellan L, Kirkpatrick M, Kurian MA
Abstract
BACKGROUND: Advances in molecular genetic technologies have improved our understanding of genetic causes of rare neurological disorders with features of myoclonus.
CASE REPORT: A family with two affected siblings, presenting with multifocal polymyoclonus and neurodevelopmental delay, was recruited for whole-exome sequencing following unyielding diagnostic neurometabolic investigations. Compound heterozygous mutations in TBC1D24, a gene previously associated with various epilepsy phenotypes and hearing loss, were identified in both siblings. The mutations included a missense change c.457G>A (p.Glu157Lys), and a novel frameshift mutation c.545del (p.Thr182Serfs*6).
DISCUSSION: We propose that TBC1D24-related diseases should be in the differential diagnosis for children with polymyoclonus.
PMID: 28428906 [PubMed - in process]
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The OTOGL p.Arg925* Variant is Associated with Moderate Hearing Loss in a Syrian Nonconsanguineous Family.
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The OTOGL p.Arg925* Variant is Associated with Moderate Hearing Loss in a Syrian Nonconsanguineous Family.
Genet Test Mol Biomarkers. 2017 Apr 20;:
Authors: Barake R, Abou-Rizk S, Nemer G, Bassim M
Abstract
AIMS: To screen for the genetic basis of congenital hearing loss in a Syrian family.
METHODS: A Syrian patient living in Lebanon presented with moderate congenital hearing loss. The patient's large nonconsanguineous family was recruited. DNA was extracted from blood samples and sent for whole-exome sequencing. A detailed clinical examination along with audiograms was obtained for all subjects.
RESULTS: Hearing loss was noted to be mild to moderate in the low and mid frequencies, sloping to moderate to severe in the high frequencies for all affected members. Results of DNA analysis showed the presence of a previously described p.Arg925* mutation in the OTOGL gene on both alleles in affected family members, whereas nonaffected members either had the wild type or one copy of the mutated allele.
DISCUSSION: Mutations affecting the OTOGL gene have been recently connected with nonsyndromic sensorineural hearing loss. Seven such mutations have already been described. The p.Arg925* reported in this study has been found once in a French family. The current report is the first to describe this mutation in a Middle Eastern family.
PMID: 28426234 [PubMed - as supplied by publisher]
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Empowering Adolescents Who Are Deaf and Hard of Hearing.
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Empowering Adolescents Who Are Deaf and Hard of Hearing.
N C Med J. 2017 Mar-Apr;78(2):129-130
Authors: Sexton J
Abstract
The adolescent years are challenging for all kids. If hearing loss is added into the mix, the issues faced by these teens are quite complex and require some skill development in advocacy, empowerment, and independence. This article will explore the emotional journey of the individual and the family.
PMID: 28420778 [PubMed - in process]
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The Application of Next-Generation Sequencing for Mutation Detection in Autosomal-Dominant Hereditary Hearing Impairment.
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The Application of Next-Generation Sequencing for Mutation Detection in Autosomal-Dominant Hereditary Hearing Impairment.
Otol Neurotol. 2017 Apr 17;:
Authors: Gürtler N, Röthlisberger B, Ludin K, Schlegel C, Lalwani AK
Abstract
OBJECTIVE: Identification of the causative mutation using next-generation sequencing in autosomal-dominant hereditary hearing impairment, as mutation analysis in hereditary hearing impairment by classic genetic methods, is hindered by the high heterogeneity of the disease.
PATIENTS: Two Swiss families with autosomal-dominant hereditary hearing impairment.
INTERVENTION: Amplified DNA libraries for next-generation sequencing were constructed from extracted genomic DNA, derived from peripheral blood, and enriched by a custom-made sequence capture library. Validated, pooled libraries were sequenced on an Illumina MiSeq instrument, 300 cycles and paired-end sequencing. Technical data analysis was performed with SeqMonk, variant analysis with GeneTalk or VariantStudio. The detection of mutations in genes related to hearing loss by next-generation sequencing was subsequently confirmed using specific polymerase-chain-reaction and Sanger sequencing.
MAIN OUTCOME MEASURE: Mutation detection in hearing-loss-related genes.
RESULTS: The first family harbored the mutation c.5383+5delGTGA in the TECTA-gene. In the second family, a novel mutation c.2614-2625delCATGGCGCCGTG in the WFS1-gene and a second mutation TCOF1-c.1028G>A were identified.
CONCLUSION: Next-generation sequencing successfully identified the causative mutation in families with autosomal-dominant hereditary hearing impairment. The results helped to clarify the pathogenic role of a known mutation and led to the detection of a novel one. NGS represents a feasible approach with great potential future in the diagnostics of hereditary hearing impairment, even in smaller labs.
PMID: 28419064 [PubMed - as supplied by publisher]
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ZO-2, a tight junction protein involved in gene expression, proliferation, apoptosis, and cell size regulation.
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ZO-2, a tight junction protein involved in gene expression, proliferation, apoptosis, and cell size regulation.
Ann N Y Acad Sci. 2017 Apr 17;:
Authors: González-Mariscal L, Miranda J, Raya-Sandino A, Domínguez-Calderón A, Cuellar-Perez F
Abstract
ZO-2 is a peripheral tight junction protein that belongs to the membrane-associated guanylate kinase protein family. Here, we explain the modular and supramodular organization of ZO-2 that allows it to interact with a wide variety of molecules, including cell-cell adhesion proteins, cytoskeletal components, and nuclear factors. We also describe how ZO proteins evolved through metazoan evolution and analyze the intracellular traffic of ZO-2, as well as the roles played by ZO-2 at the plasma membrane and nucleus that translate into the regulation of proliferation, cell size, and apoptosis. In addition, we focus on the impact of ZO-2 expression on male fertility and on maladies like cancer, cholestasis, and hearing loss.
PMID: 28415133 [PubMed - as supplied by publisher]
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Novel compound heterozygous mutations in BCS1L gene causing Bjornstad syndrome in two siblings.
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Novel compound heterozygous mutations in BCS1L gene causing Bjornstad syndrome in two siblings.
Am J Med Genet A. 2017 May;173(5):1348-1352
Authors: Falco M, Franzè A, Iossa S, De Falco L, Gambale A, Marciano E, Iolascon A
Abstract
Bjornstad syndrome is a rare condition characterized by pili torti and sensorineural hearing loss associated with pathological variations in BCS1L. Mutations in this gene are also associated with the more severe complex III deficiency and GRACILE syndrome. We report the first Italian patients with Bjornstad syndrome, two siblings with pili torti and sensorineural hearing loss, in whom we detected two novel compound heterozygous mutations in BCS1L. A thorough clinical evaluation did not reveal any features consistent with complex III deficiency or GRACILE syndrome.
PMID: 28322498 [PubMed - indexed for MEDLINE]
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Analysis of difficulties occurring during the early auditory screening in children.
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Analysis of difficulties occurring during the early auditory screening in children.
Otolaryngol Pol. 2016 Jun 30;70(4):41-8
Authors: Kocoń S, Wiatr M, Stręk P, Wiatr A, Grudzień-Ziarno A, Hartwich P
Abstract
INTRODUCTION: It is assumed that the critical period for diagnosis of hearing disorders is the baby's first three months of life and that appropriate course and implementation of treatment and/or rehabilitation should begin before a child is six months old. However various kinds of problems may occur during auditory screening of a child may exceed this interval. This problem is particularly pronounced among children with development and health problems and leads to unreliable and varied results.
AIM: The aim of this study was an analysis of prevalence of difficulties occurring during the first year of auditory screening among groups of children with congenital hearing impairment.
MATERIAL AND METHODS: Patients were examined in The Universal Newborn Hearing Screening Program in the years 2012 - 2013 in Level III NICUs in Krakow. Results from 250 cases were analyzed retrospectively. Medical exam results of patients with high risk of hearing loss were also included in our analysis. The groups of children included in our study were: children with Down Syndrome, children with nervous system disorders , children with cleft palate or both cleft palate and lip and children with congenital CMV.
RESULTS: In the group of children with cleft palate or both cleft palate and lip the most frequent cause of not conducting objective audiometric tests was bad health condition of a child which precluded his arrival for administering the tests. The most common cause of difficulties in performing hearing tests was the emotional state of children from groups with Down Syndrome. In the group of children with congenital CMV the most common cause of difficulties was a lack of availability of their parents.
CONCLUSIONS: 1. We encountered the greatest diagnostic difficulties during the child's first year of life in chosen high-risk groups of children with congenital hearing loss in children with cleft palate or both cleft palate and lip. 2. The highest prevalence of not finished tests was in III and IV interval for all chosen high-risk groups with congenital hearing loss.
PMID: 27387216 [PubMed - indexed for MEDLINE]
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The prevalence of hearing impairment within the Cape Town Metropolitan area.
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The prevalence of hearing impairment within the Cape Town Metropolitan area.
S Afr J Commun Disord. 2016 Apr 08;63(1):
Authors: Ramma L, Sebothoma B
Abstract
BACKGROUND: There is a lack of data on the prevalence of hearing impairment in South Africa. Current data is unreliable as it is based on national census information which tends to underestimate the prevalence of hearing impairment.
AIM: The aim of this study was to estimate the prevalence of hearing impairment in the Cape Town Metropolitan area and to determine factors associated with hearing impairment.
METHOD: A cross-sectional household survey involving 2494 partcipants from 718 households was conducted between the months of February and October 2013. Random cluster sampling was used to select four health sub-districts from eight health sub-districts in the Cape Town Metropolitan area using a method of probability proportional to size (PPS). The survey was conducted according to the World Health Organization (WHO) Ear and Hearing Disorders Survey Protocol and the classifcation of hearing impairment matched the WHO's criteria for the grading of hearing impairment.
RESULTS: The overall prevalence of hearing impairment in the population of this study was 12.35% (95%CI: 11.06% - 13.64%) and prevalence of disabling hearing impairment was 4.57% (95% CI: 3.75% - 5.39%) amongst individuals ≥ 4 years old. The following factors were found to be associated with hearing impairment; male gender, age, hypertension, a history of head and neck trauma and a family history of hearing impairment.
CONCLUSION: Based on the data from communities surveyed during this study, hearing impairment is more prevalent than previously estimated based on national population census information. Interventions for the prevention of hearing impairment in these communities should focus on individuals with associated risk factors.
PMID: 27247255 [PubMed - indexed for MEDLINE]
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Regeneration of hair cells in the mammalian vestibular system.
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Regeneration of hair cells in the mammalian vestibular system.
Front Med. 2016 Jun;10(2):143-51
Authors: Li W, You D, Chen Y, Chai R, Li H
Abstract
Hair cells regenerate throughout the lifetime of non-mammalian vertebrates, allowing these animals to recover from hearing and balance deficits. Such regeneration does not occur efficiently in humans and other mammals. Thus, balance deficits become permanent and is a common sensory disorder all over the world. Since Forge and Warchol discovered the limited spontaneous regeneration of vestibular hair cells after gentamicininduced damage in mature mammals, significant efforts have been exerted to trace the origin of the limited vestibular regeneration in mammals after hair cell loss. Moreover, recently many strategies have been developed to promote the hair cell regeneration and subsequent functional recovery of the vestibular system, including manipulating the Wnt, Notch and Atoh1. This article provides an overview of the recent advances in hair cell regeneration in mammalian vestibular epithelia. Furthermore, this review highlights the current limitations of hair cell regeneration and provides the possible solutions to regenerate functional hair cells and to partially restore vestibular function.
PMID: 27189205 [PubMed - indexed for MEDLINE]
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