Coupling of an active middle-ear implant to the long process of the incus using an elastic clip attachment

Publication date: Available online 13 April 2016
Source:Hearing Research
Author(s): Sebastian P. Schraven, Robert Mlynski, Ernst Dalhoff, Andreas Heyd, Daniela Wildenstein, Kristen Rak, Andreas Radeloff, Rudolf Hagen, Anthony W. Gummer
The active middle-ear implant Vibrant Soundbridge^© (VSB) is used to treat mild-to-severe sensorineural hearing losses. The standard surgical approach for incus vibroplasty is a mastoidectomy and a posterior tympanotomy, crimping the Floating Mass Transducer (FMT) to the long process of the incus (LPI) (standard crimped application). However, tight crimping increases the risk of necrosis of the LPI, resulting in reduction of energy transfer and loss of amplification.The aim of this study was to develop a new coupling device for the LPI, that does not require crimping, and to test its vibrational transfer properties in temporal-bone preparations.An extended antrotomy and a posterior tympanotomy were performed in ten fresh human temporal bones. As a control for normal middle-ear function, the tympanic membrane was stimulated acoustically and the vibration of the stapes footplate was measured by laser Doppler vibrometry (LDV). FMT-induced vibration responses of the stapes were then measured for the standard crimped application at the LPI and for the newly designed elastic long process coupler (LP coupler). For the LP coupler, velocity-amplitude responses in temporal-bone preparations showed increased mean amplitudes at around 1 kHz (∼10 dB) and a reduction between 1.8 and 6 kHz (13 dB on average for 2 ≤ f ≤ 5 kHz).In conclusion, attachment of the FMT to the LPI with the LP coupler leads to generally good mechanical and functional coupling in temporal-bone preparations with a notable disadvantage between 1.8 and 6 kHz. Due to its elastic clip attachment it is expected that the LP coupler will reduce the risk of necrosis of the incus long process, which has to been shown in further studies. Clinical results of the LP coupler are pending.



from #Audiology via xlomafota13 on Inoreader http://ift.tt/1Sik8ex
via IFTTT

Coupling of an active middle-ear implant to the long process of the incus using an elastic clip attachment

Publication date: Available online 13 April 2016
Source:Hearing Research
Author(s): Sebastian P. Schraven, Robert Mlynski, Ernst Dalhoff, Andreas Heyd, Daniela Wildenstein, Kristen Rak, Andreas Radeloff, Rudolf Hagen, Anthony W. Gummer
The active middle-ear implant Vibrant Soundbridge^© (VSB) is used to treat mild-to-severe sensorineural hearing losses. The standard surgical approach for incus vibroplasty is a mastoidectomy and a posterior tympanotomy, crimping the Floating Mass Transducer (FMT) to the long process of the incus (LPI) (standard crimped application). However, tight crimping increases the risk of necrosis of the LPI, resulting in reduction of energy transfer and loss of amplification.The aim of this study was to develop a new coupling device for the LPI, that does not require crimping, and to test its vibrational transfer properties in temporal-bone preparations.An extended antrotomy and a posterior tympanotomy were performed in ten fresh human temporal bones. As a control for normal middle-ear function, the tympanic membrane was stimulated acoustically and the vibration of the stapes footplate was measured by laser Doppler vibrometry (LDV). FMT-induced vibration responses of the stapes were then measured for the standard crimped application at the LPI and for the newly designed elastic long process coupler (LP coupler). For the LP coupler, velocity-amplitude responses in temporal-bone preparations showed increased mean amplitudes at around 1 kHz (∼10 dB) and a reduction between 1.8 and 6 kHz (13 dB on average for 2 ≤ f ≤ 5 kHz).In conclusion, attachment of the FMT to the LPI with the LP coupler leads to generally good mechanical and functional coupling in temporal-bone preparations with a notable disadvantage between 1.8 and 6 kHz. Due to its elastic clip attachment it is expected that the LP coupler will reduce the risk of necrosis of the incus long process, which has to been shown in further studies. Clinical results of the LP coupler are pending.



from #Audiology via ola Kala on Inoreader http://ift.tt/1Sik8ex
via IFTTT

Coupling of an active middle-ear implant to the long process of the incus using an elastic clip attachment

Publication date: Available online 13 April 2016
Source:Hearing Research
Author(s): Sebastian P. Schraven, Robert Mlynski, Ernst Dalhoff, Andreas Heyd, Daniela Wildenstein, Kristen Rak, Andreas Radeloff, Rudolf Hagen, Anthony W. Gummer
The active middle-ear implant Vibrant Soundbridge^© (VSB) is used to treat mild-to-severe sensorineural hearing losses. The standard surgical approach for incus vibroplasty is a mastoidectomy and a posterior tympanotomy, crimping the Floating Mass Transducer (FMT) to the long process of the incus (LPI) (standard crimped application). However, tight crimping increases the risk of necrosis of the LPI, resulting in reduction of energy transfer and loss of amplification.The aim of this study was to develop a new coupling device for the LPI, that does not require crimping, and to test its vibrational transfer properties in temporal-bone preparations.An extended antrotomy and a posterior tympanotomy were performed in ten fresh human temporal bones. As a control for normal middle-ear function, the tympanic membrane was stimulated acoustically and the vibration of the stapes footplate was measured by laser Doppler vibrometry (LDV). FMT-induced vibration responses of the stapes were then measured for the standard crimped application at the LPI and for the newly designed elastic long process coupler (LP coupler). For the LP coupler, velocity-amplitude responses in temporal-bone preparations showed increased mean amplitudes at around 1 kHz (∼10 dB) and a reduction between 1.8 and 6 kHz (13 dB on average for 2 ≤ f ≤ 5 kHz).In conclusion, attachment of the FMT to the LPI with the LP coupler leads to generally good mechanical and functional coupling in temporal-bone preparations with a notable disadvantage between 1.8 and 6 kHz. Due to its elastic clip attachment it is expected that the LP coupler will reduce the risk of necrosis of the incus long process, which has to been shown in further studies. Clinical results of the LP coupler are pending.



from #Audiology via ola Kala on Inoreader http://ift.tt/1Sik8ex
via IFTTT

Coupling of an active middle-ear implant to the long process of the incus using an elastic clip attachment

Publication date: Available online 13 April 2016
Source:Hearing Research
Author(s): Sebastian P. Schraven, Robert Mlynski, Ernst Dalhoff, Andreas Heyd, Daniela Wildenstein, Kristen Rak, Andreas Radeloff, Rudolf Hagen, Anthony W. Gummer
The active middle-ear implant Vibrant Soundbridge^© (VSB) is used to treat mild-to-severe sensorineural hearing losses. The standard surgical approach for incus vibroplasty is a mastoidectomy and a posterior tympanotomy, crimping the Floating Mass Transducer (FMT) to the long process of the incus (LPI) (standard crimped application). However, tight crimping increases the risk of necrosis of the LPI, resulting in reduction of energy transfer and loss of amplification.The aim of this study was to develop a new coupling device for the LPI, that does not require crimping, and to test its vibrational transfer properties in temporal-bone preparations.An extended antrotomy and a posterior tympanotomy were performed in ten fresh human temporal bones. As a control for normal middle-ear function, the tympanic membrane was stimulated acoustically and the vibration of the stapes footplate was measured by laser Doppler vibrometry (LDV). FMT-induced vibration responses of the stapes were then measured for the standard crimped application at the LPI and for the newly designed elastic long process coupler (LP coupler). For the LP coupler, velocity-amplitude responses in temporal-bone preparations showed increased mean amplitudes at around 1 kHz (∼10 dB) and a reduction between 1.8 and 6 kHz (13 dB on average for 2 ≤ f ≤ 5 kHz).In conclusion, attachment of the FMT to the LPI with the LP coupler leads to generally good mechanical and functional coupling in temporal-bone preparations with a notable disadvantage between 1.8 and 6 kHz. Due to its elastic clip attachment it is expected that the LP coupler will reduce the risk of necrosis of the incus long process, which has to been shown in further studies. Clinical results of the LP coupler are pending.



from #Audiology via ola Kala on Inoreader http://ift.tt/1Sik8ex
via IFTTT

Coupling of an active middle-ear implant to the long process of the incus using an elastic clip attachment

Publication date: Available online 13 April 2016
Source:Hearing Research
Author(s): Sebastian P. Schraven, Robert Mlynski, Ernst Dalhoff, Andreas Heyd, Daniela Wildenstein, Kristen Rak, Andreas Radeloff, Rudolf Hagen, Anthony W. Gummer
The active middle-ear implant Vibrant Soundbridge^© (VSB) is used to treat mild-to-severe sensorineural hearing losses. The standard surgical approach for incus vibroplasty is a mastoidectomy and a posterior tympanotomy, crimping the Floating Mass Transducer (FMT) to the long process of the incus (LPI) (standard crimped application). However, tight crimping increases the risk of necrosis of the LPI, resulting in reduction of energy transfer and loss of amplification.The aim of this study was to develop a new coupling device for the LPI, that does not require crimping, and to test its vibrational transfer properties in temporal-bone preparations.An extended antrotomy and a posterior tympanotomy were performed in ten fresh human temporal bones. As a control for normal middle-ear function, the tympanic membrane was stimulated acoustically and the vibration of the stapes footplate was measured by laser Doppler vibrometry (LDV). FMT-induced vibration responses of the stapes were then measured for the standard crimped application at the LPI and for the newly designed elastic long process coupler (LP coupler). For the LP coupler, velocity-amplitude responses in temporal-bone preparations showed increased mean amplitudes at around 1 kHz (∼10 dB) and a reduction between 1.8 and 6 kHz (13 dB on average for 2 ≤ f ≤ 5 kHz).In conclusion, attachment of the FMT to the LPI with the LP coupler leads to generally good mechanical and functional coupling in temporal-bone preparations with a notable disadvantage between 1.8 and 6 kHz. Due to its elastic clip attachment it is expected that the LP coupler will reduce the risk of necrosis of the incus long process, which has to been shown in further studies. Clinical results of the LP coupler are pending.



from #Audiology via ola Kala on Inoreader http://ift.tt/1Sik8ex
via IFTTT

An optimized design of in-shoe heel lifts reduces plantar pressure of healthy males

Publication date: Available online 13 April 2016
Source:Gait & Posture
Author(s): Xianyi Zhang, Bo Li, Kaiyun Liang, Qiufeng Wan, Benedicte Vanwanseele
Conventional heel lift with a flat surface increases the risk of foot problems related to higher plantar pressure and decreased stability. In this study, an optimized design of in-shoe heel lifts developed to maintain the midfoot function was tested to investigate if the plantar pressure distribution was improved. The design was based on three dimensional foot plantar contour which was captured by an Infoot 3D scanning system while the heel was elevated by a heel wedge. To facilitate midfoot function, an arch support was designed to support the lateral longitudinal arch, while allowing functional movement of the medial longitudinal arch. Twenty healthy male subjects were asked to walk along an 8m walkway while wearing high-cut footwear with and without the optimized heel lift. Peak pressure, contact area and force-time integral were measured using the Pedar insole system. Range and velocity of medial-lateral center of pressure during forefoot contact phase and foot flat phase were collected using a Footscan pressure plate. Compared to the shoe only condition, peak pressure under the rearfoot decreased with the optimized heel lift, while no increase of peak pressure was observed under the forefoot and midfoot regions, indicating improved plantar pressure distribution. The findings of this study suggest that this optimized heel lift has better biomechanical performance than a conventional flat heel lift. Results from this study may have implications for insole and shoe last design, especially for people who need additional heel height without sacrificing midfoot function.



from #Audiology via ola Kala on Inoreader http://ift.tt/1YvT8Xp
via IFTTT

An optimized design of in-shoe heel lifts reduces plantar pressure of healthy males

Publication date: Available online 13 April 2016
Source:Gait & Posture
Author(s): Xianyi Zhang, Bo Li, Kaiyun Liang, Qiufeng Wan, Benedicte Vanwanseele
Conventional heel lift with a flat surface increases the risk of foot problems related to higher plantar pressure and decreased stability. In this study, an optimized design of in-shoe heel lifts developed to maintain the midfoot function was tested to investigate if the plantar pressure distribution was improved. The design was based on three dimensional foot plantar contour which was captured by an Infoot 3D scanning system while the heel was elevated by a heel wedge. To facilitate midfoot function, an arch support was designed to support the lateral longitudinal arch, while allowing functional movement of the medial longitudinal arch. Twenty healthy male subjects were asked to walk along an 8m walkway while wearing high-cut footwear with and without the optimized heel lift. Peak pressure, contact area and force-time integral were measured using the Pedar insole system. Range and velocity of medial-lateral center of pressure during forefoot contact phase and foot flat phase were collected using a Footscan pressure plate. Compared to the shoe only condition, peak pressure under the rearfoot decreased with the optimized heel lift, while no increase of peak pressure was observed under the forefoot and midfoot regions, indicating improved plantar pressure distribution. The findings of this study suggest that this optimized heel lift has better biomechanical performance than a conventional flat heel lift. Results from this study may have implications for insole and shoe last design, especially for people who need additional heel height without sacrificing midfoot function.



from #Audiology via ola Kala on Inoreader http://ift.tt/1YvT8Xp
via IFTTT

An optimized design of in-shoe heel lifts reduces plantar pressure of healthy males

Publication date: Available online 13 April 2016
Source:Gait & Posture
Author(s): Xianyi Zhang, Bo Li, Kaiyun Liang, Qiufeng Wan, Benedicte Vanwanseele
Conventional heel lift with a flat surface increases the risk of foot problems related to higher plantar pressure and decreased stability. In this study, an optimized design of in-shoe heel lifts developed to maintain the midfoot function was tested to investigate if the plantar pressure distribution was improved. The design was based on three dimensional foot plantar contour which was captured by an Infoot 3D scanning system while the heel was elevated by a heel wedge. To facilitate midfoot function, an arch support was designed to support the lateral longitudinal arch, while allowing functional movement of the medial longitudinal arch. Twenty healthy male subjects were asked to walk along an 8m walkway while wearing high-cut footwear with and without the optimized heel lift. Peak pressure, contact area and force-time integral were measured using the Pedar insole system. Range and velocity of medial-lateral center of pressure during forefoot contact phase and foot flat phase were collected using a Footscan pressure plate. Compared to the shoe only condition, peak pressure under the rearfoot decreased with the optimized heel lift, while no increase of peak pressure was observed under the forefoot and midfoot regions, indicating improved plantar pressure distribution. The findings of this study suggest that this optimized heel lift has better biomechanical performance than a conventional flat heel lift. Results from this study may have implications for insole and shoe last design, especially for people who need additional heel height without sacrificing midfoot function.



from #Audiology via xlomafota13 on Inoreader http://ift.tt/1YvT8Xp
via IFTTT

Gradient of learnability in teaching English pronunciation to Korean learners

This paper aims to propose a gradient of learnability as a criterion for setting priorities in pronunciation teaching. A total of 40 Korean subjects (mostly aged 12 year) were tested on their discrimination ability of English sounds before and after participating in a high variability phonetic training (HVPT) program for 4 weeks. This study shows highly promising results for pronunciation teaching with the HVPT method. First, lower level learners show greater improvements in phoneme discrimination ability compared to upper level learners. Second, consonants are better discriminated than vowels and greater improvements are seen with consonant contrasts than with vowels that have a lower functional load. Third, many of the sounds with high functional load have a high learnability. Fourth, greater improvements are seen with sounds that are poorly identified before the training than sounds that are well-identified. Fifth, young learners also benefit from the HVPT, much like highly motivated adult learners. A learnability gradient was established on the basis of the phoneme learnability index and the pairwise learnability index. On the basis of the constructed gradient of learnability and the concept of functional load, a set of priorities was provided for teaching English pronunciation to young Korean learners.

from #Audiology via xlomafota13 on Inoreader http://ift.tt/1qJGxFr
via IFTTT

Estimation of low-altitude moving target trajectory using single acoustic array

An acoustic-signature based method of estimating the flight trajectory of low-altitude flying aircraft that only requires a stationary microphone array is proposed. This method leverages the Doppler shifts of engine sound to estimate the closest point of approach distance, time, and speed. It also leverages the acoustic phase shift over the microphone array to estimate the direction of arrival of the target. Combining these parameters, this algorithm provides a total least square estimate of the target trajectory under the assumption of constant target height, direction, and speed. Analytical bounds of potential performance degradation due to noise are derived and the estimation error caused by signal propagation delay is analyzed, and both are verified with extensive simulation. The proposed algorithm is also validated by processing the data collected in field experiments.

from #Audiology via xlomafota13 on Inoreader http://ift.tt/1NpPFUF
via IFTTT

Ebi, a Drosophila homologue of TBL1, regulates the balance between cellular defense responses and neuronal survival.

Related Articles

Ebi, a Drosophila homologue of TBL1, regulates the balance between cellular defense responses and neuronal survival.

Am J Neurodegener Dis. 2016;5(1):62-8

Authors: Lim YM, Tsuda L

Abstract
Transducin β-like 1 (TBL1), a transcriptional co-repressor complex, is a causative factor for late-onset hearing impairments. Transcriptional co-repressor complexes play pivotal roles in gene expression by making a complex with divergent transcription factors. However, it remained to be clarified how co-repressor complex regulates cellular survival. We herein demonstrated that ebi, a Drosophila homologue of TBL1, suppressed photoreceptor cell degeneration in the presence of excessive innate immune signaling. We also showed that the balance between NF-κB and AP-1 is a key component of cellular survival under stress conditions. Given that Ebi plays an important role in innate immune responses by regulating NF-κB activity and inhibition of apoptosis induced by associating with AP-1, it may be involved in the regulation of photoreceptor cell survival by modulating cross-talk between NF-κB and AP-1.

PMID: 27073743 [PubMed]

from #Audiology via ola Kala on Inoreader http://ift.tt/1p0q2mZ
via IFTTT

Clinical outcome and patient satisfaction using biodegradable (NasoPore) and non-biodegradable packing, a double-blind, prospective, randomized study.

Related Articles

Clinical outcome and patient satisfaction using biodegradable (NasoPore) and non-biodegradable packing, a double-blind, prospective, randomized study.

Braz J Otorhinolaryngol. 2016 Mar 28;

Authors: Burduk PK, Wierzchowska M, Grześkowiak B, Kaźmierczak W, Wawrzyniak K

Abstract
INTRODUCTION: Nasal packing after endoscopic sinus surgery is used as a standard procedure. The optimum solution to minimize or eliminate all disadvantages of this procedure may be accomplished using biodegradable packs.
OBJECTIVE: The aim of this study was to compare patient satisfaction and clinical outcome associated with absorbable and non-absorbable packing after FESS.
METHODS: In total, 50 patients were included in a prospective, double-blind, randomized trial. One side was packed with polyurethane foam, while the opposite side was packed with gauze packing. On the 2nd, 10th, and 30th postoperative day, the patients were questioned with the aid of a visual analog scale. The standardized questionnaires for bleeding, nasal breathing, feeling of pressure, and headache were used. The presence of synechiae, infection, or granulation was noted and recorded with the video-endoscopy.
RESULTS: A significant difference according to lower pressure was found in the NasoPore group compared to the controls on day ten after surgery. The NasoPore packing had lower scores with respect to postoperative nose blockage on the 2nd and 10th days. Mucosal healing was better for the NasoPore group, both at day ten and 30 compared with the control group.
CONCLUSION: The overall patient comfort is higher when using NasoPore compared to non-resorbable traditional impregnated gauze packing. Intensive saline douches applied three to four times per day are mandatory after the operation to prevent synechiae formation and fluid resorption by the packing.

PMID: 27068885 [PubMed - as supplied by publisher]

from #Audiology via ola Kala on Inoreader http://ift.tt/1p0q4es
via IFTTT

Ebi, a Drosophila homologue of TBL1, regulates the balance between cellular defense responses and neuronal survival.

Related Articles

Ebi, a Drosophila homologue of TBL1, regulates the balance between cellular defense responses and neuronal survival.

Am J Neurodegener Dis. 2016;5(1):62-8

Authors: Lim YM, Tsuda L

Abstract
Transducin β-like 1 (TBL1), a transcriptional co-repressor complex, is a causative factor for late-onset hearing impairments. Transcriptional co-repressor complexes play pivotal roles in gene expression by making a complex with divergent transcription factors. However, it remained to be clarified how co-repressor complex regulates cellular survival. We herein demonstrated that ebi, a Drosophila homologue of TBL1, suppressed photoreceptor cell degeneration in the presence of excessive innate immune signaling. We also showed that the balance between NF-κB and AP-1 is a key component of cellular survival under stress conditions. Given that Ebi plays an important role in innate immune responses by regulating NF-κB activity and inhibition of apoptosis induced by associating with AP-1, it may be involved in the regulation of photoreceptor cell survival by modulating cross-talk between NF-κB and AP-1.

PMID: 27073743 [PubMed]

from #Audiology via ola Kala on Inoreader http://ift.tt/1p0q2mZ
via IFTTT

Clinical outcome and patient satisfaction using biodegradable (NasoPore) and non-biodegradable packing, a double-blind, prospective, randomized study.

Related Articles

Clinical outcome and patient satisfaction using biodegradable (NasoPore) and non-biodegradable packing, a double-blind, prospective, randomized study.

Braz J Otorhinolaryngol. 2016 Mar 28;

Authors: Burduk PK, Wierzchowska M, Grześkowiak B, Kaźmierczak W, Wawrzyniak K

Abstract
INTRODUCTION: Nasal packing after endoscopic sinus surgery is used as a standard procedure. The optimum solution to minimize or eliminate all disadvantages of this procedure may be accomplished using biodegradable packs.
OBJECTIVE: The aim of this study was to compare patient satisfaction and clinical outcome associated with absorbable and non-absorbable packing after FESS.
METHODS: In total, 50 patients were included in a prospective, double-blind, randomized trial. One side was packed with polyurethane foam, while the opposite side was packed with gauze packing. On the 2nd, 10th, and 30th postoperative day, the patients were questioned with the aid of a visual analog scale. The standardized questionnaires for bleeding, nasal breathing, feeling of pressure, and headache were used. The presence of synechiae, infection, or granulation was noted and recorded with the video-endoscopy.
RESULTS: A significant difference according to lower pressure was found in the NasoPore group compared to the controls on day ten after surgery. The NasoPore packing had lower scores with respect to postoperative nose blockage on the 2nd and 10th days. Mucosal healing was better for the NasoPore group, both at day ten and 30 compared with the control group.
CONCLUSION: The overall patient comfort is higher when using NasoPore compared to non-resorbable traditional impregnated gauze packing. Intensive saline douches applied three to four times per day are mandatory after the operation to prevent synechiae formation and fluid resorption by the packing.

PMID: 27068885 [PubMed - as supplied by publisher]

from #Audiology via ola Kala on Inoreader http://ift.tt/1p0q4es
via IFTTT

AMP genomic sequencing procedure microcosting & health economic cost-impact analyses

The Association for Molecular Pathology (AMP), the premier global, non-profit organization serving molecular diagnostic professionals, has announced the results from a 2015 analysis of the costs...

from #Audiology via xlomafota13 on Inoreader http://ift.tt/22wpnab
via IFTTT

AMP genomic sequencing procedure microcosting & health economic cost-impact analyses

The Association for Molecular Pathology (AMP), the premier global, non-profit organization serving molecular diagnostic professionals, has announced the results from a 2015 analysis of the costs...

from #Audiology via ola Kala on Inoreader http://ift.tt/22wpnab
via IFTTT

AMP genomic sequencing procedure microcosting & health economic cost-impact analyses

The Association for Molecular Pathology (AMP), the premier global, non-profit organization serving molecular diagnostic professionals, has announced the results from a 2015 analysis of the costs...

from #Audiology via ola Kala on Inoreader http://ift.tt/22wpnab
via IFTTT

A novel mutation of the MITF gene in a family with Waardenburg syndrome type 2: A case report.

Related Articles

A novel mutation of the MITF gene in a family with Waardenburg syndrome type 2: A case report.

Exp Ther Med. 2016 Apr;11(4):1516-1518

Authors: Shi Y, Li X, Ju D, Li Y, Zhang X, Zhang Y

Abstract
Waardenburg syndrome (WS) is an autosomal dominant disorder with varying degrees of sensorineural hearing loss, and accumulation of pigmentation in hair, skin and iris. There are four types of WS (WS1-4) with differing characteristics. Mutations in six genes [paired box gene 3 (PAX3), microphthalmia-associated transcription factor (MITF), endothelin 3 (END3), endothelin receptor type B (EDNRB), SRY (sex determining region Y)-box 10 (SOX10) and snail homolog 2 (SNAI2)] have been identified to be associated with the various types. This case report describes the investigation of genetic mutations in three patients with WS2 from a single family. Genomic DNA was extracted, and the six WS-related genes were sequenced using next-generation sequencing technology. In addition to mutations in PAX3, EDNRB and SOX10, a novel heterozygous MITF mutation, p.Δ315Arg (c.944_946delGAA) on exon 8 was identified. This is predicted to be a candidate disease-causing mutation that may affect the structure and function of the enzyme.

PMID: 27073475 [PubMed - as supplied by publisher]

from #Audiology via xlomafota13 on Inoreader http://ift.tt/1Na7Vq1
via IFTTT

New insights in the interpretation of array-CGH: autism spectrum disorder and positive family history for intellectual disability predict the detection of pathogenic variants.

Related Articles

New insights in the interpretation of array-CGH: autism spectrum disorder and positive family history for intellectual disability predict the detection of pathogenic variants.

Ital J Pediatr. 2016;42(1):39

Authors: Cappuccio G, Vitiello F, Casertano A, Fontana P, Genesio R, Bruzzese D, Ginocchio VM, Mormile A, Nitsch L, Andria G, Melis D

Abstract
BACKGROUND: Array-CGH (aCGH) is presently used into routine clinical practice for diagnosis of patients with intellectual disability (ID), multiple congenital anomalies (MCA), and autism spectrum disorder (ASD). ACGH could detect small chromosomal imbalances, copy number variations (CNVs), and closely define their size and gene content. ACGH detects pathogenic imbalances in 14-20 % of patients with ID. The aims of this study were: to establish clinical clues potentially associated with pathogenic CNVs and to identify cytogenetic indicators to predict the pathogenicity of the variants of uncertain significance (VOUS) in a large cohort of paediatric patients.
METHODS: We enrolled 214 patients referred for either: ID, and/or ASD and/or MCA to genetic services at the Federico II University of Naples, Department of Translational Medicine. For each patient we collected clinical and imaging data. All the patients were tested with aCGH or as first-tier test or as part of a wider diagnostic work-up.
RESULTS: Pathologic data were detected in 65 individuals (30 %) and 46 CNVs revealed a known syndrome. The pathological CNVs were usually deletions showing the highest gene-dosage content. The positive family history for ID/ASD/MCA and ASD were good indicators for detecting pathological chromosomal rearrangements. Other clinical features as eyes anomalies, hearing loss, neurological signs, cutaneous dyscromia and endocrinological problems seem to be potential predictors of pathological CNVs. Among patients carrying VOUS we analyzed genetic features including CNVs size, presence of deletion or duplication, genic density, multiple CNVs, to clinical features. Higher gene density was found in patients affected by ID. This result suggest that higher gene content has more chances to include pathogenic gene involved and causing ID in these patients.
CONCLUSION: Our study suggest the use of aCGH as first-tier test in patients with neurdevelopmental phenotypes. The inferred results have been used for building a flow-chart to be applied for children with ID.

PMID: 27072107 [PubMed - in process]

from #Audiology via xlomafota13 on Inoreader http://ift.tt/1Na7Ti3
via IFTTT

Etiology and associated GJB2 mutations in Mauritanian children with non-syndromic hearing loss.

Related Articles

Etiology and associated GJB2 mutations in Mauritanian children with non-syndromic hearing loss.

Eur Arch Otorhinolaryngol. 2016 Apr 11;

Authors: Moctar EC, Riahi Z, El Hachmi H, Veten F, Meiloud G, Bonnet C, Abdelhak S, Errami M, Houmeida A

Abstract
Origins of all hearing impairment forms may be divided into genetic mutations and acquired influence. Both carry damage to the inner ear structure resulting in a mild to profound dysfunction of the auditory system. The purpose of this study was to assess the different etiologies of deafness in two reference centers for hearing-impaired children in Nouakchott/Mauritania. Data on gender, age, consanguinity, etiology and family history of deafness were gathered by interviewing the custodians of 139 children with hearing loss. DNA of pupils with hereditary non-syndromic deafness was then screened for GJB2 mutations by sequencing methods. Postnatal hearing loss was found in 36 (25.8 %) out of the 139 children surveyed. The main etiologies of this group were infections caused by meningitis (12.9 %) and measles (2.8 %). Unknown and ototoxic origins accounted for, respectively, 5.7 and 3.5 %. In 103 (74.1 %) children, deafness was identified near after the time of birth and, therefore, presumed as congenital. 56.8 % of deaf children had consanguineous parents. Two GJB2 mutations, c.del35G with an allele frequency of 4.7 % and R32C (3.7 %) were detected. Infections such as meningitis and measles were the most prevalent causes of postnatal deafness. In cases of congenital hearing impairment, two GJB2 allele variants, i.e., del35G and R32C (3.7 %) were detected. Extended genetic testing is recommended for a more comprehensive determination of congenital causes.

PMID: 27067584 [PubMed - as supplied by publisher]

from #Audiology via xlomafota13 on Inoreader http://ift.tt/1Na7Ti1
via IFTTT

Mutations in PRPS1 causing syndromic or nonsyndromic hearing impairment: intrafamilial phenotypic variation complicates genetic counseling.

Related Articles

Mutations in PRPS1 causing syndromic or nonsyndromic hearing impairment: intrafamilial phenotypic variation complicates genetic counseling.

Pediatr Res. 2015 Jul;78(1):97-102

Authors: Gandía M, Fernández-Toral J, Solanellas J, Domínguez-Ruiz M, Gómez-Rosas E, Del Castillo FJ, Villamar M, Moreno-Pelayo MA, Del Castillo I

Abstract
BACKGROUND: PRPS1 encodes isoform I of phosphoribosylpyrophosphate synthetase (PRS-I), a key enzyme in nucleotide biosynthesis. Different missense mutations in PRPS1 cause a variety of disorders that include PRS-I superactivity, nonsyndromic sensorineural hearing impairment, Charcot-Marie-Tooth disease, and Arts syndrome. It has been proposed that each mutation would result in a specific phenotype, depending on its effects on the structure and function of the enzyme.
METHODS: Thirteen Spanish unrelated families segregating X-linked hearing impairment were screened for PRPS1 mutations by Sanger sequencing. In two positive pedigrees, segregation of mutations was studied, and clinical data from affected subjects were compared.
RESULTS: We report two novel missense mutations in PRPS1, p.Ile275Thr and p.Gly306Glu, which were found in the propositi of two unrelated Spanish families, both subjects presenting with nonsyndromic hearing impairment. Further investigation revealed syndromic features in other hemizygous carriers from one of the pedigrees. Sequencing of genes that are functionally related to PRPS1 did not reveal any candidate variant that might act as a phenotype modifier.
CONCLUSION: This case of intrafamilial phenotypic variation associated with a single PRPS1 mutation complicates the genotype-phenotype correlations, which makes genetic counseling of mutation carriers difficult because of the wide spectrum of severity of the associated disorders.

PMID: 25785835 [PubMed - indexed for MEDLINE]

from #Audiology via xlomafota13 on Inoreader http://ift.tt/1Na7ThX
via IFTTT

Cochlear implantation in adolescents: Factors influencing compliance.

Related Articles

Cochlear implantation in adolescents: Factors influencing compliance.

Cochlear Implants Int. 2015 Jul;16(4):186-94

Authors: Markey AL, Nichani J, Lockley M, Melling C, Ramsden RT, Green KM, Bruce IA

Abstract
OBJECTIVES: To quantify rates of non- and partial-use of cochlear implants (CIs) in adolescent patients implanted in adolescence and childhood and identify factors influencing compliance.
METHODS: A retrospective case note review undertaken at The Manchester Auditory Implant Centre. Adolescents were defined as young people aged 11-18 years. Individuals implanted in adolescence were defined as Group 1, individuals implanted in childhood under the age of 3 years and currently adolescents were defined as Group 2 and individuals implanted between the age of 3 and11 years and currently adolescents were defined as Group 3. Non-use was defined as not using the CI at all and partial use was defined as consistently using the CI less than full-time, or fluctuating periods of full and less than full-time use.
RESULTS: In Group 1 there was 1 non-user (1.3%) and 11 partial-users (13.9%), with an overall non-compliance rate of 15.2%. In Group 2 there was one non-user (1.9%) and one partial-user (1.9%) with an overall non-compliance rate of 3.8%. In Group 3 there were no non-users and eight partial-users (9%), with an overall non-compliance rate of 9%. The factors influencing compliance differed between groups with the most common factor in Group 1 being a preference for the auditory input gained from the contralateral hearing aid (50%). In Groups 2 and 3 the main factors influencing compliance were behavioural and related to wearing the implant only at school (50 and 75%, respectively).
CONCLUSIONS: Patients implanted during adolescence have higher rates of non- and partial-use compared with their adolescent counterparts who have been implanted during childhood. It is important to investigate factors influencing non-compliance so appropriate support may be provided to the patient and their family.

PMID: 24624996 [PubMed - indexed for MEDLINE]

from #Audiology via xlomafota13 on Inoreader http://ift.tt/1Q98vzb
via IFTTT

Sound Source Localization by Normal-Hearing Listeners, Hearing-Impaired Listeners and Cochlear Implant Listeners

Objective: Our primary aim was to determine whether listeners in the following patient groups achieve localization accuracy within the 95th percentile of accuracy shown by younger or older normal-hearing (NH) listeners: (1) hearing impaired with bilateral hearing aids, (2) bimodal cochlear implant (CI), (3) bilateral CI, (4) hearing preservation CI, (5) single-sided deaf CI and (6) combined bilateral CI and bilateral hearing preservation. Design: The listeners included 57 young NH listeners, 12 older NH listeners, 17 listeners fit with hearing aids, 8 bimodal CI listeners, 32 bilateral CI listeners, 8 hearing preservation CI listeners, 13 single-sided deaf CI listeners and 3 listeners with bilateral CIs and bilateral hearing preservation. Sound source localization was assessed in a sound-deadened room with 13 loudspeakers arrayed in a 180-degree arc. Results: The root mean square (rms) error for the NH listeners was 6 degrees. The 95th percentile was 11 degrees. Nine of 16 listeners with bilateral hearing aids achieved scores within the 95th percentile of normal. Only 1 of 64 CI patients achieved a score within that range. Bimodal CI listeners scored at a level near chance, as did the listeners with a single CI or a single NH ear. Listeners with (1) bilateral CIs, (2) hearing preservation CIs, (3) single-sided deaf CIs and (4) both bilateral CIs and bilateral hearing preservation, all showed rms error scores within a similar range (mean scores between 20 and 30 degrees of error). Conclusion: Modern CIs do not restore a normal level of sound source localization for CI listeners with access to sound information from two ears.
Audiol Neurotol 2016;21:127-131

from #Audiology via xlomafota13 on Inoreader http://ift.tt/1S90E6Z
via IFTTT

The Short- and Long-Term Outcome of Intratympanic Steroid Therapy as a Salvage Treatment for Acute Low-Tone Sensorineural Hearing Loss without Episodes of Vertigo

Objectives: To evaluate the hearing outcomes of intratympanic steroid (ITS) treatment for patients with acute low-tone sensorineural hearing loss (ALHL) after failure of initial therapy and to investigate the recurrence and progression to definite Ménière's disease (MD) during a long-term follow-up. Methods: We retrospectively reviewed the medical records of 90 patients with refractory ALHL who were followed up for at least 1 year between January 2000 and April 2014. Patients who responded poorly to initial medical treatment received intratympanic dexamethasone injections (ITS group) or isosorbide administration for 4 weeks (diuretic group) as salvage treatment options according to their choice of management. The control group did not receive ITS or the diuretic, due to their refusal of both medical treatments. The hearing outcomes were evaluated 1 month, 1 year and 5 years after the completion of the second-line therapy, and the rates of recurrence and progression to MD were measured during a follow-up period of at least 1 year. Results: Twenty-seven patients in the ITS group, 39 patients in the diuretic group and 24 patients in the control group were enrolled. Of these, 12 patients in the ITS group, 15 patients in the diuretic group and 12 patients in the control group were followed up for over 5 years. We found that the recovery rates and the audiometric functional values after 1 month and 1 year in the ITS group were significantly higher than those in the diuretic and control groups. However, there were no significant differences in the recovery rates or the audiometric functional values after 5 years, or in the rates of recurrence and progression to MD between the groups. Conclusions: Salvage ITS therapy can provide a relatively good short-term hearing outcome for ALHL patients who have persistent hearing loss despite conventional treatment. However, both recurrence and progression to MD after treatment were observed in some patients during the long-term follow-up.
Audiol Neurotol 2016;21:132-140

from #Audiology via xlomafota13 on Inoreader http://ift.tt/1VY2xbe
via IFTTT