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OtoRhinoLaryngology by Sfakianakis G.Alexandros Sfakianakis G.Alexandros,Anapafseos 5 Agios Nikolaos 72100 Crete Greece,tel : 00302841026182,00306932607174
by Hong Wu, Yong Feng, Lu Jiang, Qian Pan, Yalan Liu, Chang Liu, Chufeng He, Hongsheng Chen, Xueming Liu, Chang Hu, Yiqiao Hu, Lingyun Mei
ObjectiveThe aim of this study was to evaluate the GoldenGate microarray as a diagnostic tool and to elucidate the contribution of the genes on this array to the development of both nonsyndromic and syndromic sensorineural hearing loss in China.
MethodsWe developed a microarray to detect 240 mutations underlying syndromic and nonsyndromic sensorineural hearing loss. The microarray was then used for analysis of 382 patients with nonsyndromic sensorineural hearing loss (including 15 patients with enlarged vestibular aqueduct syndrome), 21 patients with Waardenburg syndrome, and 60 unrelated controls. Subsequently, we analyzed the sensitivity, specificity, and reproducibility of this new approach after Sanger sequencing-based verification, and also determined the contribution of the genes on this array to the development of distinct hearing disorders.
ResultsThe sensitivity and specificity of the microarray chip were 98.73% and 98.34%, respectively. Genetic defects were identified in 61.26% of the patients with nonsyndromic sensorineural hearing loss, and 9 causative genes were identified. The molecular etiology was confirmed in 19.05% and 46.67% of the patients with Waardenburg syndrome and enlarged vestibular aqueduct syndrome, respectively.
ConclusionOur new mutation-based microarray comprises an accurate and comprehensive genetic tool for the detection of sensorineural hearing loss. This microarray-based detection method could serve as a first-pass screening (before next-generation-sequencing screening) for deafness-causing mutations in China.
The skewness of the first time derivative of a pressure waveform, or derivative skewness, has been used previously to describe the presence of shock-like content in jet and rocket noise. Despite its use, a quantitative understanding of derivative skewness values has been lacking. In this paper, the derivative skewness for nonlinearly propagating waves is investigated using analytical, numerical, and experimental methods. Analytical expressions for the derivative skewness of an initially sinusoidal plane wave are developed and, along with numerical data, are used to describe its behavior in the preshock, sawtooth, and old-age regions. Analyses of common measurement issues show that the derivative skewness is relatively sensitive to the effects of a smaller sampling rate, but less sensitive to the presence of additive noise. In addition, the derivative skewness of nonlinearly propagating noise is found to reach greater values over a shorter length scale relative to sinusoidal signals. A minimum sampling rate is recommended for sinusoidal signals to accurately estimate derivative skewness values up to five, which serves as an approximate threshold indicating significant shock formation.
The biosonar signals of two free-swimming Atlantic bottlenose dolphins performing a complex sonar search for a bottom target in San Diego Bay were compared with the biosonar signals of a dolphin performing a target discrimination task in a net pen in the same bay. A bite-plate device carried by the free-swimming dolphins supported a hydrophone that extended directly in front of the dolphin. A biosonarmeasuring tool attached to the bite plate measured the outgoing biosonar signals while the dolphins conducted sonar searches. Each of the free-swimming dolphins used different biosonar search strategy in solving the problem and the dolphins' biosonar signals reflect the difference in strategy. The dolphin in the pen stationed in a hoop while echolocating on a target 6 m away and reported if the indentation on a spherical target was directed toward it. The signals were parameterized by determining the peak-to-peak source levels, source energy flux density, peak frequency, center frequency, root-mean-square (rms) bandwidth, rms duration, and the Q of the signals. Some parameters were similar for the free-swimming and stationary dolphins while some were significantly different, suggesting biosonar signals used by free-swimming animals may be different than signals used by dolphins in a pen.
The acoustic center of radiating sources is relevant to the modeling of radiation patterns and to their effective implementation in acoustical applications and computer models. However, the acoustic center of the sources may not be unique and therefore should be defined. Previously studied source centering algorithms used analytic methods for specific acoustic models, or applied post processing methods on a recorded sound from an acoustic source that was surrounded by a spherical microphone array. This work performs an acoustic centering of a radiating circular baffled piston that is formed by an open termination of a circular pipe. A signal processing based acoustic centering algorithm is redefined for this case and is shown to be correlated with the effective length of the pipe.
The relationship between the intensity and loudness of self-generated (autophonic) speech remains invariant despite changes in auditory feedback, indicating that non-auditory processes contribute to this form of perception. The aim of the current study was to determine if the speech perception deficit associated with Parkinson's disease may be linked to deficits in such processes. Loudness magnitude estimates were obtained from parkinsonian and non-parkinsonian subjects across four separate conditions: self-produced speech under normal, perturbed, and masked auditory feedback, as well as auditory presentation of pre-recorded speech (passive listening). Slopes and intercepts of loudness curves were compared across groups and conditions. A significant difference in slope was found between autophonic and passive-listening conditions for both groups. Unlike control subjects, parkinsonian subjects' magnitude estimates under auditory masking increased in variability and did not show as strong a shift in intercept values. These results suggest that individuals with Parkinson's disease rely on auditory feedback to compensate for underlying deficits in sensorimotor integration important in establishing and regulating autophonic loudness.
Carbon nanotube thermophones can create acoustic waves from 1 Hz to 100 kHz. The thermoacoustic effect that allows for this non-vibrating sound source is naturally inefficient. Prior efforts have not explored their true efficiency (i.e., the ratio of the total acoustic power to the electrical input power). All previous works have used the ratio of sound pressure to input electrical power. A method for true power efficiency measurement is shown using a fully anechoic technique. True efficiency data are presented for three different drive signal processing techniques: standard alternating current(AC),direct current added to alternating current (DCAC), and amplitude modulation of an alternating current (AMAC) signal. These signal processing techniques are needed to limit the frequency doubling non-linear effects inherent to carbon nanotube thermophones. Each type of processing affects the true efficiency differently. Using a 72 Wrms input signal, the measured efficiency ranges were 4.3 × 10−6 − 319 × 10−6, 1.7 × 10−6 − 308 × 10−6, and 1.2 × 10−6 – 228 × 10−6% for AC, DCAC, and AMAC, respectively. These data were measured in the frequency range of 100 Hz to 10 kHz. In addition, the effects of these processing techniques relative to sound quality are presented in terms of total harmonic distortion.
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[Craniofacial fibrous dysplasia].
Rev Med Interne. 2016 Mar 23;
Authors: Couturier A, Aumaître O, Mom T, Gilain L, André M
Abstract
Fibrous dysplasia of bone is a benign, uncommon, sporadic, congenital skeletal disorder resulting in deformity. This disease arises from activating somatic mutation in GNAS which encodes the α subunit of the G stimulatory protein associated with proliferation of undifferentiated osteogenic cells resulting in marrow fibrosis, abnormal matrix production, and stimulation of osteoclastic resorption upon overproduction of IL-6 observed in dysplastic cells. Fibrous dysplasia may be monostotic or polyostotic. This mutation affecting many tissues, café au lait skin macules and endocrinopathies (precocious puberty, hyperthyroidism, growth hormone excess, Cushing syndrome) may be associated in McCune-Albright syndrome, but also myxoma in Mazabraud syndrome or phosphate diabetes. Diagnosis of craniofacial fibrous dysplasia should be considered in the presence of headache, neuralgia, sensory disorders (vision, hearing, balance, smelling), functional disorders (nasal obstruction, nasolacrimal duct obstruction, non-matching occlusion), infectious complications (sinusitis, otitis, mastoiditis). Such symptoms should lead to perform craniofacial CT scan completed with MRI. Bone biopsy is not systematic. Surgical treatment is discussed in cases of nervous complication, facial deformity or active lesions. In case of pain resistant to conventional analgesics, intravenous bisphosphonates can be proposed. In non-responder patients, several case reports suggest the efficacy of a monoclonal antibody directed against the IL-6 receptor which requires to be confirmed by randomized studies.
PMID: 27017329 [PubMed - as supplied by publisher]
Related Articles |
[Craniofacial fibrous dysplasia].
Rev Med Interne. 2016 Mar 23;
Authors: Couturier A, Aumaître O, Mom T, Gilain L, André M
Abstract
Fibrous dysplasia of bone is a benign, uncommon, sporadic, congenital skeletal disorder resulting in deformity. This disease arises from activating somatic mutation in GNAS which encodes the α subunit of the G stimulatory protein associated with proliferation of undifferentiated osteogenic cells resulting in marrow fibrosis, abnormal matrix production, and stimulation of osteoclastic resorption upon overproduction of IL-6 observed in dysplastic cells. Fibrous dysplasia may be monostotic or polyostotic. This mutation affecting many tissues, café au lait skin macules and endocrinopathies (precocious puberty, hyperthyroidism, growth hormone excess, Cushing syndrome) may be associated in McCune-Albright syndrome, but also myxoma in Mazabraud syndrome or phosphate diabetes. Diagnosis of craniofacial fibrous dysplasia should be considered in the presence of headache, neuralgia, sensory disorders (vision, hearing, balance, smelling), functional disorders (nasal obstruction, nasolacrimal duct obstruction, non-matching occlusion), infectious complications (sinusitis, otitis, mastoiditis). Such symptoms should lead to perform craniofacial CT scan completed with MRI. Bone biopsy is not systematic. Surgical treatment is discussed in cases of nervous complication, facial deformity or active lesions. In case of pain resistant to conventional analgesics, intravenous bisphosphonates can be proposed. In non-responder patients, several case reports suggest the efficacy of a monoclonal antibody directed against the IL-6 receptor which requires to be confirmed by randomized studies.
PMID: 27017329 [PubMed - as supplied by publisher]