OtoRhinoLaryngology by Sfakianakis G.Alexandros Sfakianakis G.Alexandros,Anapafseos 5 Agios Nikolaos 72100 Crete Greece,tel : 00302841026182,00306932607174
Τρίτη 19 Απριλίου 2016
Inner Ear Active Hearing Device in Non-Otosclerotic Severe Mixed Hearing Loss.
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Loads and Coupling Modalities Influence the Performance of the Floating Mass Transducer as a Round Window Driver.
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Neutrophil to Lymphocyte Ratio as a Predictive Marker of Vestibular Schwannoma Growth.
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Correlation of CT MR and Histopathology in Incomplete Partition-II Cochlear Anomaly.
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Cochlear Implant Surgery in the Elderly: The Feasibility of a Modified Suprameatal Approach Under Local Anesthesia.
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Impact of Noise Reduction Algorithm in Cochlear Implant Processing on Music Enjoyment.
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Secondary Endolymphatic Hydrops After Acoustic Trauma.
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Response to Letter to the Editor: Comment on "Usher's Syndrome: Evaluation of the Vestibular System with Cervical and Ocular Vestibular Evoked Myogenic Potentials and the Video Head Impulse Test".
Langerhan's Cell Histiocytosis in an Immunosuppressed Patient Isolated to the Temporal Bone.
Comment on "Usher's Syndrome: Evaluation of the Vestibular System with Cervical and Ocular Vestibular Evoked Myogenic Potentials and the Video Head Impulse Test".
CT Scan Imaging of the Human Fetal Labyrinth: Case Series Data Throughout Gestation.
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Test-retest and Interrater Reliability of the Video Head Impulse Test in the Pediatric Population.
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The Association of External and Middle Ear Anomaly and Mandibular Morphology in Congenital Microtia.
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Comparison of Audiological Results Between a Transcutaneous and a Percutaneous Bone Conduction Instrument in Conductive Hearing Loss.
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Cochlear Implant Rate Pitch and Melody Perception as a Function of Place and Number of Electrodes
Six Nucleus cochlear implant recipients participated in a study investigating the effect of place of stimulation on melody perception using rate-pitch cues. Each stimulus was a pulse train delivered on either a single electrode or multiple electrodes sequentially. Four spatial stimulation patterns were used: a single apical electrode, a single mid electrode, a pair of electrodes (apical and mid), and 11 electrodes (from apical to mid). Within one block of trials, all stimuli had the same spatial stimulation pattern, with pulse rate varying from 131 to 262 pps. An additional pulse rate range of 262 to 523 pps was tested with the single-electrode stimuli. Two experimental procedures were used: note ranking; and a modified melodies test with backwards and warp modification. In each trial of the modified melodies test, a familiar melody and a version with modified pitch were presented (in random order), and the subject’s task was to select the unmodified melody. There were no significant differences in performance for stimulation on 1, 2, or 11 electrodes, implying that recipients were unable to combine temporal information from different places in the cochlea to give a stronger pitch cue. No advantage of apical electrodes was found: at the lower pulse rates, there were no significant differences between electrodes; and at the higher pulse rates, scores on the apical electrode dropped more than those on the mid electrode.
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The Perception of Auditory Motion
The growing availability of efficient and relatively inexpensive virtual auditory display technology has provided new research platforms to explore the perception of auditory motion. At the same time, deployment of these technologies in command and control as well as in entertainment roles is generating an increasing need to better understand the complex processes underlying auditory motion perception. This is a particularly challenging processing feat because it involves the rapid deconvolution of the relative change in the locations of sound sources produced by rotational and translations of the head in space (self-motion) to enable the perception of actual source motion. The fact that we perceive our auditory world to be stable despite almost continual movement of the head demonstrates the efficiency and effectiveness of this process. This review examines the acoustical basis of auditory motion perception and a wide range of psychophysical, electrophysiological, and cortical imaging studies that have probed the limits and possible mechanisms underlying this perception.
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An Investigation of Multidimensional Voice Program Parameters in Three Different Databases for Voice Pathology Detection and Classification
Source:Journal of Voice
Author(s): Ahmed Al-nasheri, Ghulam Muhammad, Mansour Alsulaiman, Zulfiqar Ali, Tamer A. Mesallam, Mohamed Farahat, Khalid H. Malki, Mohamed A. Bencherif
Background and ObjectiveAutomatic voice-pathology detection and classification systems may help clinicians to detect the existence of any voice pathologies and the type of pathology from which patients suffer in the early stages. The main aim of this paper is to investigate Multidimensional Voice Program (MDVP) parameters to automatically detect and classify the voice pathologies in multiple databases, and then to find out which parameters performed well in these two processes.Materials and MethodsSamples of the sustained vowel /a/ of normal and pathological voices were extracted from three different databases, which have three voice pathologies in common. The selected databases in this study represent three distinct languages: (1) the Arabic voice pathology database; (2) the Massachusetts Eye and Ear Infirmary database (English database); and (3) the Saarbruecken Voice Database (German database). A computerized speech lab program was used to extract MDVP parameters as features, and an acoustical analysis was performed. The Fisher discrimination ratio was applied to rank the parameters. A t test was performed to highlight any significant differences in the means of the normal and pathological samples.ResultsThe experimental results demonstrate a clear difference in the performance of the MDVP parameters using these databases. The highly ranked parameters also differed from one database to another. The best accuracies were obtained by using the three highest ranked MDVP parameters arranged according to the Fisher discrimination ratio: these accuracies were 99.68%, 88.21%, and 72.53% for the Saarbruecken Voice Database, the Massachusetts Eye and Ear Infirmary database, and the Arabic voice pathology database, respectively.
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Quantifying the Subharmonic Mucosal Wave in Excised Larynges via Digital Kymography
Source:Journal of Voice
Author(s): Yu Zhang, Nanmu Huang, William Calawerts, Lin Li, Allison L. Maytag, Jack J. Jiang
ObjectivesIn this paper, a nonlinear least squares fitting method was proposed to quantify subharmonic mucosal waves.Study Design and MethodsSubharmonic mucosal waves from 10 excised canine larynges were recorded using digital kymography and analyzed using nonlinear least squares and linear least squares methods. Amplitudes of fundamental and subharmonic mucosal wave components of right-upper, right-lower, left-upper, and left-lower vocal fold lips were calculated. Lastly, phase differences of fundamental and subharmonic components of the left and right vocal folds were compared.ResultsThe results showed that the nonlinear least squares analysis method provides a more effective complement to the linear fitting method for subharmonic mucosal wave extraction. There was a significant difference in amplitudes between the subharmonic and the fundamental components of mucosal waves (P < 0.05). The phase differences of the fundamental and the subharmonic components of the right and left vocal folds were not significantly different.ConclusionsThe application of the nonlinear least squares analysis method in digital kymography is useful for the characterization of subharmonic mucosal waves.
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Cochlear Implant Rate Pitch and Melody Perception as a Function of Place and Number of Electrodes
Six Nucleus cochlear implant recipients participated in a study investigating the effect of place of stimulation on melody perception using rate-pitch cues. Each stimulus was a pulse train delivered on either a single electrode or multiple electrodes sequentially. Four spatial stimulation patterns were used: a single apical electrode, a single mid electrode, a pair of electrodes (apical and mid), and 11 electrodes (from apical to mid). Within one block of trials, all stimuli had the same spatial stimulation pattern, with pulse rate varying from 131 to 262 pps. An additional pulse rate range of 262 to 523 pps was tested with the single-electrode stimuli. Two experimental procedures were used: note ranking; and a modified melodies test with backwards and warp modification. In each trial of the modified melodies test, a familiar melody and a version with modified pitch were presented (in random order), and the subject’s task was to select the unmodified melody. There were no significant differences in performance for stimulation on 1, 2, or 11 electrodes, implying that recipients were unable to combine temporal information from different places in the cochlea to give a stronger pitch cue. No advantage of apical electrodes was found: at the lower pulse rates, there were no significant differences between electrodes; and at the higher pulse rates, scores on the apical electrode dropped more than those on the mid electrode.
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The Perception of Auditory Motion
The growing availability of efficient and relatively inexpensive virtual auditory display technology has provided new research platforms to explore the perception of auditory motion. At the same time, deployment of these technologies in command and control as well as in entertainment roles is generating an increasing need to better understand the complex processes underlying auditory motion perception. This is a particularly challenging processing feat because it involves the rapid deconvolution of the relative change in the locations of sound sources produced by rotational and translations of the head in space (self-motion) to enable the perception of actual source motion. The fact that we perceive our auditory world to be stable despite almost continual movement of the head demonstrates the efficiency and effectiveness of this process. This review examines the acoustical basis of auditory motion perception and a wide range of psychophysical, electrophysiological, and cortical imaging studies that have probed the limits and possible mechanisms underlying this perception.
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Cochlear Implant Rate Pitch and Melody Perception as a Function of Place and Number of Electrodes
Six Nucleus cochlear implant recipients participated in a study investigating the effect of place of stimulation on melody perception using rate-pitch cues. Each stimulus was a pulse train delivered on either a single electrode or multiple electrodes sequentially. Four spatial stimulation patterns were used: a single apical electrode, a single mid electrode, a pair of electrodes (apical and mid), and 11 electrodes (from apical to mid). Within one block of trials, all stimuli had the same spatial stimulation pattern, with pulse rate varying from 131 to 262 pps. An additional pulse rate range of 262 to 523 pps was tested with the single-electrode stimuli. Two experimental procedures were used: note ranking; and a modified melodies test with backwards and warp modification. In each trial of the modified melodies test, a familiar melody and a version with modified pitch were presented (in random order), and the subject’s task was to select the unmodified melody. There were no significant differences in performance for stimulation on 1, 2, or 11 electrodes, implying that recipients were unable to combine temporal information from different places in the cochlea to give a stronger pitch cue. No advantage of apical electrodes was found: at the lower pulse rates, there were no significant differences between electrodes; and at the higher pulse rates, scores on the apical electrode dropped more than those on the mid electrode.
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The Perception of Auditory Motion
The growing availability of efficient and relatively inexpensive virtual auditory display technology has provided new research platforms to explore the perception of auditory motion. At the same time, deployment of these technologies in command and control as well as in entertainment roles is generating an increasing need to better understand the complex processes underlying auditory motion perception. This is a particularly challenging processing feat because it involves the rapid deconvolution of the relative change in the locations of sound sources produced by rotational and translations of the head in space (self-motion) to enable the perception of actual source motion. The fact that we perceive our auditory world to be stable despite almost continual movement of the head demonstrates the efficiency and effectiveness of this process. This review examines the acoustical basis of auditory motion perception and a wide range of psychophysical, electrophysiological, and cortical imaging studies that have probed the limits and possible mechanisms underlying this perception.
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The Intelligibility of Interrupted Speech: Cochlear Implant Users and Normal Hearing Listeners
Abstract
Compared with normal-hearing listeners, cochlear implant (CI) users display a loss of intelligibility of speech interrupted by silence or noise, possibly due to reduced ability to integrate and restore speech glimpses across silence or noise intervals. The present study was conducted to establish the extent of the deficit typical CI users have in understanding interrupted high-context sentences as a function of a range of interruption rates (1.5 to 24 Hz) and duty cycles (50 and 75 %). Further, factors such as reduced signal quality of CI signal transmission and advanced age, as well as potentially lower speech intelligibility of CI users even in the lack of interruption manipulation, were explored by presenting young, as well as age-matched, normal-hearing (NH) listeners with full-spectrum and vocoded speech (eight-channel and speech intelligibility baseline performance matched). While the actual CI users had more difficulties in understanding interrupted speech and taking advantage of faster interruption rates and increased duty cycle than the eight-channel noise-band vocoded listeners, their performance was similar to the matched noise-band vocoded listeners. These results suggest that while loss of spectro-temporal resolution indeed plays an important role in reduced intelligibility of interrupted speech, these factors alone cannot entirely explain the deficit. Other factors associated with real CIs, such as aging or failure in transmission of essential speech cues, seem to additionally contribute to poor intelligibility of interrupted speech.
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Transmucosal Gas-Loss Rates in Middle Ears Initially Filled with O2 or CO2
Source:Hearing Research
Author(s): Romain E. Kania, Benjamin Verillaud, Bernard Ars, Patrice Tran Ba Huy, Philippe Herman, Amos Ar
This study investigates the role of different gases in clearance of gas in the middle ear cavity (ME) by its mucosal blood flow. A rat model was used to measure gas volume changes in the ME cavity at constant pressure without ventilation. We disturbed the normal gas composition of the ME by filling it with O2 or CO2, measured the consequent changes in gas volume over time and compared these results with previously obtained ones for air and N2. The first 5 min of the primary transient phase (phase I) for O2 or CO2 was characterized by a volume loss decrease of -0.49 ± 0.34 μL and -46.28 ± 8.49 μL, respectively, with volume loss increase for air and N2 differing greatly, at +0.17 ± 0.17 and +2.31 ± 0.81, respectively. The CO2 value of -46.28 μL showed that a volume of gas equivalent to that of the ME cleft volume was eliminated within the first 5 min. In the second phase (phase II), all gases showed a linear decrease in volume, which presumably represents a steady-state gas loss rate. However, the gas loss rate of -0.307 ± 0.170 μL∙min-1 for O2-filled MEs was significantly higher than the mean of -0.124 μL∙min-1 for all other gases. We used a previously established mathematical model to calculate the effective ME mucosal blood flow rate under steady-state (phase II) conditions. The blood flow results for O2-filled MEs differed greatly from those of the other gases (89.0 ± 49.28 vs. 26.5 μL∙min-1, on average), which suggest that the model used to calculate blood flow should be modified if used with O2-filled MEs. Further work should involve a comparison of our method with different methods to verify ME blood flow rate.
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Transmucosal Gas-Loss Rates in Middle Ears Initially Filled with O2 or CO2
Source:Hearing Research
Author(s): Romain E. Kania, Benjamin Verillaud, Bernard Ars, Patrice Tran Ba Huy, Philippe Herman, Amos Ar
This study investigates the role of different gases in clearance of gas in the middle ear cavity (ME) by its mucosal blood flow. A rat model was used to measure gas volume changes in the ME cavity at constant pressure without ventilation. We disturbed the normal gas composition of the ME by filling it with O2 or CO2, measured the consequent changes in gas volume over time and compared these results with previously obtained ones for air and N2. The first 5 min of the primary transient phase (phase I) for O2 or CO2 was characterized by a volume loss decrease of -0.49 ± 0.34 μL and -46.28 ± 8.49 μL, respectively, with volume loss increase for air and N2 differing greatly, at +0.17 ± 0.17 and +2.31 ± 0.81, respectively. The CO2 value of -46.28 μL showed that a volume of gas equivalent to that of the ME cleft volume was eliminated within the first 5 min. In the second phase (phase II), all gases showed a linear decrease in volume, which presumably represents a steady-state gas loss rate. However, the gas loss rate of -0.307 ± 0.170 μL∙min-1 for O2-filled MEs was significantly higher than the mean of -0.124 μL∙min-1 for all other gases. We used a previously established mathematical model to calculate the effective ME mucosal blood flow rate under steady-state (phase II) conditions. The blood flow results for O2-filled MEs differed greatly from those of the other gases (89.0 ± 49.28 vs. 26.5 μL∙min-1, on average), which suggest that the model used to calculate blood flow should be modified if used with O2-filled MEs. Further work should involve a comparison of our method with different methods to verify ME blood flow rate.
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Transmucosal Gas-Loss Rates in Middle Ears Initially Filled with O2 or CO2
Source:Hearing Research
Author(s): Romain E. Kania, Benjamin Verillaud, Bernard Ars, Patrice Tran Ba Huy, Philippe Herman, Amos Ar
This study investigates the role of different gases in clearance of gas in the middle ear cavity (ME) by its mucosal blood flow. A rat model was used to measure gas volume changes in the ME cavity at constant pressure without ventilation. We disturbed the normal gas composition of the ME by filling it with O2 or CO2, measured the consequent changes in gas volume over time and compared these results with previously obtained ones for air and N2. The first 5 min of the primary transient phase (phase I) for O2 or CO2 was characterized by a volume loss decrease of -0.49 ± 0.34 μL and -46.28 ± 8.49 μL, respectively, with volume loss increase for air and N2 differing greatly, at +0.17 ± 0.17 and +2.31 ± 0.81, respectively. The CO2 value of -46.28 μL showed that a volume of gas equivalent to that of the ME cleft volume was eliminated within the first 5 min. In the second phase (phase II), all gases showed a linear decrease in volume, which presumably represents a steady-state gas loss rate. However, the gas loss rate of -0.307 ± 0.170 μL∙min-1 for O2-filled MEs was significantly higher than the mean of -0.124 μL∙min-1 for all other gases. We used a previously established mathematical model to calculate the effective ME mucosal blood flow rate under steady-state (phase II) conditions. The blood flow results for O2-filled MEs differed greatly from those of the other gases (89.0 ± 49.28 vs. 26.5 μL∙min-1, on average), which suggest that the model used to calculate blood flow should be modified if used with O2-filled MEs. Further work should involve a comparison of our method with different methods to verify ME blood flow rate.
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Transmucosal Gas-Loss Rates in Middle Ears Initially Filled with O2 or CO2
Source:Hearing Research
Author(s): Romain E. Kania, Benjamin Verillaud, Bernard Ars, Patrice Tran Ba Huy, Philippe Herman, Amos Ar
This study investigates the role of different gases in clearance of gas in the middle ear cavity (ME) by its mucosal blood flow. A rat model was used to measure gas volume changes in the ME cavity at constant pressure without ventilation. We disturbed the normal gas composition of the ME by filling it with O2 or CO2, measured the consequent changes in gas volume over time and compared these results with previously obtained ones for air and N2. The first 5 min of the primary transient phase (phase I) for O2 or CO2 was characterized by a volume loss decrease of -0.49 ± 0.34 μL and -46.28 ± 8.49 μL, respectively, with volume loss increase for air and N2 differing greatly, at +0.17 ± 0.17 and +2.31 ± 0.81, respectively. The CO2 value of -46.28 μL showed that a volume of gas equivalent to that of the ME cleft volume was eliminated within the first 5 min. In the second phase (phase II), all gases showed a linear decrease in volume, which presumably represents a steady-state gas loss rate. However, the gas loss rate of -0.307 ± 0.170 μL∙min-1 for O2-filled MEs was significantly higher than the mean of -0.124 μL∙min-1 for all other gases. We used a previously established mathematical model to calculate the effective ME mucosal blood flow rate under steady-state (phase II) conditions. The blood flow results for O2-filled MEs differed greatly from those of the other gases (89.0 ± 49.28 vs. 26.5 μL∙min-1, on average), which suggest that the model used to calculate blood flow should be modified if used with O2-filled MEs. Further work should involve a comparison of our method with different methods to verify ME blood flow rate.
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Transmucosal Gas-Loss Rates in Middle Ears Initially Filled with O2 or CO2
Source:Hearing Research
Author(s): Romain E. Kania, Benjamin Verillaud, Bernard Ars, Patrice Tran Ba Huy, Philippe Herman, Amos Ar
This study investigates the role of different gases in clearance of gas in the middle ear cavity (ME) by its mucosal blood flow. A rat model was used to measure gas volume changes in the ME cavity at constant pressure without ventilation. We disturbed the normal gas composition of the ME by filling it with O2 or CO2, measured the consequent changes in gas volume over time and compared these results with previously obtained ones for air and N2. The first 5 min of the primary transient phase (phase I) for O2 or CO2 was characterized by a volume loss decrease of -0.49 ± 0.34 μL and -46.28 ± 8.49 μL, respectively, with volume loss increase for air and N2 differing greatly, at +0.17 ± 0.17 and +2.31 ± 0.81, respectively. The CO2 value of -46.28 μL showed that a volume of gas equivalent to that of the ME cleft volume was eliminated within the first 5 min. In the second phase (phase II), all gases showed a linear decrease in volume, which presumably represents a steady-state gas loss rate. However, the gas loss rate of -0.307 ± 0.170 μL∙min-1 for O2-filled MEs was significantly higher than the mean of -0.124 μL∙min-1 for all other gases. We used a previously established mathematical model to calculate the effective ME mucosal blood flow rate under steady-state (phase II) conditions. The blood flow results for O2-filled MEs differed greatly from those of the other gases (89.0 ± 49.28 vs. 26.5 μL∙min-1, on average), which suggest that the model used to calculate blood flow should be modified if used with O2-filled MEs. Further work should involve a comparison of our method with different methods to verify ME blood flow rate.
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Labyrinthine concussion following gunshot injury: A case report
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Labyrinthine concussion following gunshot injury: A case report
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Labyrinthine concussion following gunshot injury: A case report
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Labyrinthine concussion following gunshot injury: A case report
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Labyrinthine concussion following gunshot injury: A case report
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Labyrinthine concussion following gunshot injury: A case report
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AC/DC Singer Battles Sensorineural Hearing Loss
In an article posted to CNN.com on April 19, AC/DC lead singer Brian Johnson details his battle with sensorineural hearing loss after years of unprotected noise exposure from concert performances. In the article, he refers to his admission of hearing loss and ultimate decision to cease touring with the band as his “darkest day.” Sadly, Johnson is only one in a long line of musicians, including Pete Townshend, Eric Clapton, Ted Nugent, Phil Collins, will.I.am, and many more, who suffer from tinnitus and/or hearing loss as a consequence of their profession.
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Image reconstruction with uncertainty quantification in photoacoustic tomography
Photoacoustictomography is a hybrid imaging method that combines optical contrast and ultrasound resolution. The goal of photoacoustictomography is to resolve an initial pressure distribution from detectedultrasound waves generated within an object due to an illumination of a short light pulse. In this work, a Bayesian approach to photoacoustictomography is described. The solution of the inverse problem is derived and computation of the point estimates for image reconstruction and uncertainty quantification is described. The approach is investigated with simulations in different detector geometries, including limited view setup, and with different detector properties such as ideal point-like detectors, finite size detectors, and detectors with a finite bandwidth. The results show that the Bayesian approach can be used to provide accurate estimates of the initial pressure distribution, as well as information about the uncertainty of the estimates.
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Military jet noise source imaging using multisource statistically optimized near-field acoustical holography
The identification of acoustic sources is critical to targeted noise reduction efforts for jets on high-performance tactical aircraft. This paper describes the imaging of acoustic sources from a tactical jet using near-field acoustical holography techniques. The measurement consists of a series of scans over the hologram with a dense microphone array. Partial field decomposition methods are performed to generate coherent holograms. Numerical extrapolation of data beyond the measurement aperture mitigates artifacts near the aperture edges. A multisource equivalent wave model is used that includes the effects of the ground reflection on the measurement. Multisource statistically optimized near-field acoustical holography (M-SONAH) is used to reconstruct apparent source distributions between 20 and 1250 Hz at four engine powers. It is shown that M-SONAH produces accurate field reconstructions for both inward and outward propagation in the region spanned by the physical hologram measurement. Reconstructions across the set of engine powers and frequencies suggests that directivity depends mainly on estimated source location; sources farther downstream radiate at a higher angle relative to the inlet axis. At some frequencies and engine powers, reconstructed fields exhibit multiple radiation lobes originating from overlapped source regions, which is a phenomenon relatively recently reported for full-scale jets.
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Shallow water acoustic response and platform motion modeling via a hierarchical Gaussian mixture model
A hierarchical Gaussian mixture model is proposed to characterize shallow water acoustic response functions that are time-varying and sparse. The mixture model is based on the assumption that acoustic paths can be partitioned into two sets. The first is a relatively coherent set of arrivals that on average exhibit Doppler spreading about a mean Doppler and the remaining set is of multiple surface scattered paths that exhibit a spectrally flat Doppler. The hierarchy establishes constraints on the parameters of each of these Gaussian models such that coherent components of the response are both sparse and in the ensemble obey the Doppler spread profile. This is accomplished with a Bernoulli model that indicates the ensonification state of each element in the bi-frequency representation of the acoustic response function. Estimators of the time-varying acoustic response for the full duration of a broadband transmission are developed and employed to compensate for the shared time-varying dilation process among the coherent arrivals. The approach ameliorates response coherence degradation and can be employed to enhance coherent multi-path combining and is a useful alternative to time recursive estimation. The model is tested with acoustic communication recordings taken in shallow water at low signal-to-noise ratios.
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Sensory challenges for trawling bats: Finding transient prey on water surfaces
Bats are able to identify obstacles and prey objects based exclusively on acoustic information acquired via echolocation. To assess the echo information potentially available to the trawling bat Noctilio leporinus, prey objects were ensonified with artificial bat calls and deduced echo target strengths (TS) of the reflected signals. The artificial calls consisted either of constant frequency (CF) or frequency modulated (FM)sounds. Detection distances were calculated for call intensities of N. leporinus emitted in the field and in confined space. Measurements of a transient target consisting of a brief water splash and subsequently expanding water ripples revealed that concentrically expanding water ripples can provide sufficiently loud echoes to be detected by trawling bats. Experiments with stationary targets revealed differences in TS depending on the type of signal used (CF or FM). A calculated maximum detection distance between 4.5 and 13.7 m for all measured targets indicates that prey detection in this very loud calling species occurs much earlier than suggested by estimations based on modifications in echolocation or flight behavior.
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Novel missense mutation in the CLPP gene causes Perrault Syndrome type-3 in a Turkish family.
Novel missense mutation in the CLPP gene causes Perrault Syndrome type-3 in a Turkish family.
J Clin Res Pediatr Endocrinol. 2016 Apr 18;
Authors: Dursun F, Mohamoud HS, Karim N, Naeem M, Jelani M, Kırmızıbekmez H
Abstract
Perrault syndrome (PRLTS) is a heterogeneous group of clinical and genetic disorders in which patients are characterized by sensory neuronal hearing loss, in both sexes and premature ovarian failure or infertility in females. Neurological and hearing loss symptoms appear early in life; however, female infertility obviously cannot be detected before puberty. In addition to this, spastic limbs, muscle weakness, delayed puberty; irregular menstrual cycles have also been observed in PRLTS patients. Mutations in five genes, HSD17B4, HARS2, CLPP, LARS2, and C10orf2, have been reported in five subtypes of PRLTS. Here we report a milder phenotype of PRLTS in a Turkish family in which two affected patients had no neurological findings; however, they both were characterized by sensory neuronal hearing loss and only the female also had secondary amenorrhea and gonadal dysgenesis. Genome-wide homozygosity mapping using 300K SNP microarray analysis together with iScan platform (Illumina, USA) followed by candidate gene Sanger sequencing with ABI 3500 Genetic Analyzer (Life Technologies, USA) were used for molecular diagnosis. We found a novel missense alteration c.624C>G; p.Ile208Met in exon 5 of the CLPP at chromosome 19p13.3. This study expands the mutation spectrum of CLPP pathogenicity in PRLTS type-3 phenotype.
PMID: 27087618 [PubMed - as supplied by publisher]
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