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https://www.readbyqxmd.com/read/28328131/recessive-mutations-in-slc35a3-cause-early-onset-epileptic-encephalopathy-with-skeletal-defects
#1
Carla Marini, Katia Hardies, Tiziana Pisano, Patrick May, Sarah Weckhuysen, Elena Cellini, Arvid Suls, Davide Mei, Rudi Balling, Peter D Jonghe, Ingo Helbig, Domenico Garozzo, Renzo Guerrini
We describe the clinical and whole genome sequencing (WGS) study of a non-consanguineous Italian family in which two siblings, a boy and a girl, manifesting a severe epileptic encephalopathy (EE) with skeletal abnormalities, carried novel SLC35A3 compound heterozygous mutations. Both siblings exhibited infantile spasms, associated with focal, and tonic vibratory seizures from early infancy. EEG recordings showed a suppression-burst (SB) pattern and multifocal paroxysmal activity in both. In addition both had quadriplegia, acquired microcephaly, and severe intellectual disability...
April 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28326869/design-and-evaluation-of-vibratory-shoe-on-balance-control-for-elderly-subjects-technical-note
#2
Atefeh Aboutorabi, Mokhtar Arazpour, Farzam Farahmand, Mahmood Bahramizadeh, Reza Fadayevatan, Ehsan Abdollahi
BACKGROUND AND AIM: Aging often results in a decline in somatosensory function, and such changes are associated with diminished motor performance. Input noise can enhance sensory and motor function through a mechanism known as stochastic resonance (SR). This paper describes the development and testing of a new vibrating shoe to possibly assist the elderly patients in controlling their balance and decreasing their falling risks. TECHNIQUE: The new vibrating shoe was evaluated to ascertain its ability to generate appropriate random and nonlinear vibrations...
March 22, 2017: Disability and Rehabilitation. Assistive Technology
https://www.readbyqxmd.com/read/28325351/flexible-fiber-optic-high-speed-imaging-of-vocal-fold-vibration-a-preliminary-report
#3
Peak Woo, Peter Baxter
OBJECTIVE: High-speed video (HSV) imaging of vocal fold vibration has been possible only through the rigid endoscope. This study reports that a fiberscope-based high-speed imaging system may allow HSV imaging of naturalistic voicing. MATERIALS AND METHODS: Twenty-two subjects were recorded using a commercially available black and white high-speed camera (Photron Motion Tools, 256 × 120 pixel, 2000 frames per second, 8 second acquisition time). The camera gain is set to +6 db...
March 2017: Journal of Voice: Official Journal of the Voice Foundation
https://www.readbyqxmd.com/read/28323013/electroencephalographic-sensorimotor-rhythms-are-modulated-in-the-acute-phase-following-focal-vibration-in-healthy-subjects
#4
Susanna Lopez, Fabiano Bini, Claudio Del Percio, Franco Marinozzi, Claudia Celletti, Antonio Suppa, Raffaele Ferri, Emanuela Staltari, Filippo Camerota, Claudio Babiloni
Few minutes of focal vibration (FV) on limb muscles can improve motor control in neurological (stroke, Parkinson) patients for unknown underlying neurophysiological mechanisms. Here we hypothesized that in healthy volunteers this FV would increase excitability in the primary sensorimotor cortex (S1-M1) during an isometric contraction of the stimulated muscle. The design included an initial control condition with no FV stimulation (Baseline) as well as three short experimental sessions of FV and a Sham (fake) session in a pseudo-random order...
March 17, 2017: Neuroscience
https://www.readbyqxmd.com/read/28318967/pitch-strength-as-an-outcome-measure-for-treatment-of-dysphonia
#5
Lisa M Kopf, Cristina Jackson-Menaldi, Adam D Rubin, Jean Skeffington, Eric J Hunter, Mark D Skowronski, Rahul Shrivastav
BACKGROUND: Measurement of treatment outcomes is critical for the spectrum of voice treatments (ie, surgical, behavioral, or pharmacological). Outcome measures typically include visual (eg, stroboscopic data), auditory (eg, Consensus Auditory-Perceptual Evaluation of Voice; Grade, Roughness, Breathiness, Asthenia, Strain), and objective correlates of vocal fold vibratory characteristics, such as acoustic signals (eg, harmonics-to-noise ratio, cepstral peak prominence) or patient self-reported questionnaires (eg, Voice Handicap Index, Voice-Related Quality of Life)...
March 16, 2017: Journal of Voice: Official Journal of the Voice Foundation
https://www.readbyqxmd.com/read/28318780/surface-electromyogram-and-muscle-ultrasonography-for-detection-of-muscle-fasciculations-in-pediatric-peripheral-neuropathy
#6
Masayoshi Oguri, Yoshiaki Saito, Tetsuya Okazaki, Wataru Matsumura, Koyo Ohno, Masami Togawa, Chisako Fukuda, Yuko Saito, Ichizo Nishino, Yoshihiro Maegaki
A 12-year-old girl presented with talipes equinus of both legs, attenuation of upper and lower limb tendon reflexes, thermal hyperalgesia, and reduction of vibratory sensation. On clinical examination, muscle twitches of fingers of both hands, as well as the abductor halluces and the dorsal interossei muscles of the right foot were observed. Nerve conduction velocity was significantly declined in the upper and lower extremities. Needle electromyography (EMG) was not performed; however, ultrasonography revealed repetitive, semi-regular muscle twitches lasting 0...
March 16, 2017: Brain & Development
https://www.readbyqxmd.com/read/28262501/vocal-fold-vibration-following-surgical-intervention-in-three-vocal-pathologies-a-preliminary-study
#7
Wenli Chen, Peak Woo, Thomas Murry
High-speed videoendoscopy captures the cycle-to-cycle vibratory motion of each individual vocal fold in normal and severely disordered phonation. Therefore, it provides a direct method to examine the specific vibratory changes following vocal fold surgery. The purpose of this study was to examine the vocal fold vibratory pattern changes in the surgically treated pathologic vocal fold and the contralateral vocal fold in three vocal pathologies: vocal polyp (n = 3), paresis or paralysis (n = 3), and scar (n = 3)...
March 3, 2017: Journal of Voice: Official Journal of the Voice Foundation
https://www.readbyqxmd.com/read/28261493/upper-limb-vibration-prototype-with-sports-and-rehabilitation-applications-development-evaluation-and-preliminary-study
#8
Amit Narahar Pujari, Richard D Neilson, Sumeet S Aphale, Marco Cardinale
Vibration stimulation as an exercise intervention has been studied increasingly for its potential benefits and applications in sports and rehabilitation. Vibratory exercise devices should be capable of generating highly precise and repeatable vibrations and should be capable of generating a range of vibration amplitudes and frequencies in order to provide different training protocols. Many devices used to exercise the upper body provide limited variations to exercise regimes mostly due to the fact that only vibration frequency can be controlled...
February 2017: Healthcare Technology Letters
https://www.readbyqxmd.com/read/28243588/computational-modeling-of-fluid-structure-acoustics-interaction-during-voice-production
#9
Weili Jiang, Xudong Zheng, Qian Xue
The paper presented a three-dimensional, first-principle based fluid-structure-acoustics interaction computer model of voice production, which employed a more realistic human laryngeal and vocal tract geometries. Self-sustained vibrations, important convergent-divergent vibration pattern of the vocal folds, and entrainment of the two dominant vibratory modes were captured. Voice quality-associated parameters including the frequency, open quotient, skewness quotient, and flow rate of the glottal flow waveform were found to be well within the normal physiological ranges...
2017: Frontiers in Bioengineering and Biotechnology
https://www.readbyqxmd.com/read/28240982/inner-ear-excitation-in-normal-and-postmastoidectomy-participants-by-fluid-stimulation-in-the-absence-of-air-and-bone-conduction-mechanisms
#10
Ofri Ronen, Miriam Geal-Dor, Michal Kaufmann-Yehezkely, Ronen Perez, Shai Chordekar, Cahtia Adelman, Haim Sohmer
BACKGROUND: Hearing can be induced not only by airborne sounds (air conduction [AC]) and by the induction of skull vibrations by a bone vibrator (osseous bone conduction [BC]), but also by inducing vibrations of the soft tissues of the head, neck, and thorax. This hearing mode is called soft tissue conduction (STC) or nonosseous BC. PURPOSE: This study was designed to gain insight into the mechanism of STC auditory stimulation. RESEARCH DESIGN: Fluid was applied to the external auditory canal in normal participants and to the mastoidectomy common cavity in post-radical mastoidectomy patients...
February 2017: Journal of the American Academy of Audiology
https://www.readbyqxmd.com/read/28231579/vibration-induced-nystagmus-a-biomarker-for-vestibular-deficits-a-synopsis
#11
Karl-Friedrich Hamann
A review of more than 20 years of experience with vibratory stimulation in vestibular diseases is given. Vibrations in a frequency frame of 30-60 Hz are applied on the mastoid during 20 s. Eye movements are recorded by video-oculography to detect a vibration-induced nystagmus (VIN). A VIN occurs in cases of a side difference between the peripheral vestibular receptors beating to the side of better excitability. In patients with central lesions, a VIN does not appear generally, only exceptionally if the lesion is located laterally in the brain stem...
2017: ORL; Journal for Oto-rhino-laryngology and its related Specialties
https://www.readbyqxmd.com/read/28210068/use-of-an-arm-weight-bearing-combined-with-upper-limb-reaching-apparatus-to-facilitate-motor-paralysis-recovery-in-an-incomplete-spinal-cord-injury-patient-a-single-case-report
#12
Takashi Hoei, Kazumi Kawahira, Hidefumi Fukuda, Keizo Sihgenobu, Megumi Shimodozono, Tadashi Ogura
[Purpose] Training using an arm weight-bearing device combined with upper-limb reaching apparatus to facilitate motor paralysis recovery, named the "Reaching Robot", as well as Repetitive Facilitation Exercise were applied to a patient with severe impairment of the shoulder and elbow due to incomplete spinal cord injury and the effects were examined. [Subjects and Methods] A 66-year-old man with incomplete spinal cord injury participated in an upper extremity rehabilitation program involving a Reaching Robot...
January 2017: Journal of Physical Therapy Science
https://www.readbyqxmd.com/read/28199505/influence-of-left-right-asymmetries-on-voice-quality-in-simulated-paramedian-vocal-fold-paralysis
#13
Robin A Samlan, Brad H Story
Purpose: The purpose of this study was to determine the vocal fold structural and vibratory symmetries that are important to vocal function and voice quality in a simulated paramedian vocal fold paralysis. Method: A computational kinematic speech production model was used to simulate an exemplar "voice" on the basis of asymmetric settings of parameters controlling glottal configuration. These parameters were then altered individually to determine their effect on maximum flow declination rate, spectral slope, cepstral peak prominence, harmonics-to-noise ratio, and perceived voice quality...
February 1, 2017: Journal of Speech, Language, and Hearing Research: JSLHR
https://www.readbyqxmd.com/read/28194485/detection-of-hydrodynamic-stimuli-by-the-postcranial-body-of-florida-manatees-trichechus-manatus-latirostris
#14
Joseph C Gaspard, Gordon B Bauer, David A Mann, Katharine Boerner, Laura Denum, Candice Frances, Roger L Reep
Manatees live in shallow, frequently turbid waters. The sensory means by which they navigate in these conditions are unknown. Poor visual acuity, lack of echolocation, and modest chemosensation suggest that other modalities play an important role. Rich innervation of sensory hairs that cover the entire body and enlarged somatosensory areas of the brain suggest that tactile senses are good candidates. Previous tests of detection of underwater vibratory stimuli indicated that they use passive movement of the hairs to detect particle displacements in the vicinity of a micron or less for frequencies from 10 to 150 Hz...
February 13, 2017: Journal of Comparative Physiology. A, Neuroethology, Sensory, Neural, and Behavioral Physiology
https://www.readbyqxmd.com/read/28169095/oscillatory-onset-and-offset-in-young-vocally-healthy-adults-across-various-measurement-methods
#15
Rita R Patel, Reuben Walker, Michael Döllinger
OBJECTIVE: This study aimed to investigate the relationship between (1) oscillatory onset-offset time across various approaches that use different measurement criteria and (2) oscillatory onset and offset times in vocally healthy young adults. METHOD: Oscillatory onset-offset times were obtained from 71 vocally normal adults, using high-speed videoendoscopy. Comparisons between the different onset methods involved measurement of the oscillatory onset time (OOT), voice initiation period (VIP), and the phonation onset time (POT), and for offset methods involved computation of the oscillatory offset time (OOToff) and the phonation offset time...
February 3, 2017: Journal of Voice: Official Journal of the Voice Foundation
https://www.readbyqxmd.com/read/28118033/emergency-braking-is-affected-by-the-use-of-cruise-control
#16
Yves Jammes, Michel Behr, Maxime Llari, Sarah Bonicel, Jean Paul Weber, Stephane Berdah
OBJECTIVE: We compared the differences in the braking response to vehicle collision between an active human emergency braking (control condition) and cruise control (CC) or adaptive cruise control (ACC). METHODS: In 11 male subjects, age 22 to 67 years, we measured the active emergency braking response during manual driving using the accelerator pedal (control condition) or in condition mimicking CC or ACC. In both conditions, we measured the brake reaction time (BRT), delay to produce the peak braking force (PBD), total emergency braking response (BRT + PBD), and peak braking force (PBF)...
January 24, 2017: Traffic Injury Prevention
https://www.readbyqxmd.com/read/28114036/investigation-on-low-voltage-operation-of-electrovibration-display
#17
Jeonggoo Kang, Heewon Kim, Seungmoon Choi, Ki-Duk Kim, Jeha Ryu
This paper presents three methods of input voltage signals that allow low voltage operation of an electrovibration display while preserving the perceptual feel and strength of electrovibration stimuli. The first method uses the amplitude modulation of a high-frequency carrier-signal. The second method uses a dc-offset, and the third method uses a combination of the two methods. The performance of the three methods was evaluated by a physical experiment that measured and analyzed static (dc-component) and dynamic (vibratory component) friction forces and two subsequent psychophysical studies...
December 5, 2016: IEEE Transactions on Haptics
https://www.readbyqxmd.com/read/28109659/fighting-for-the-web-competition-between-female-feather-legged-spiders-uloborus-plumipes
#18
Anna-Christin Joel, Anne Habedank, Jonas Hausen, Jörg Mey
Most spider species are solitary, and among the few social interactions among them, resource competition between females has received little attention. We discovered that females of the feather-legged spider Uloborus plumipes invade the orb webs of conspecifics and compete for webs. Following observations in the wild, intruder-defender interactions were studied in a terrarium and in controlled laboratory experiments. We found that contests for orb webs occurred spontaneously between adult females. Competitive interactions in U...
December 14, 2016: Zoology: Analysis of Complex Systems, ZACS
https://www.readbyqxmd.com/read/28108153/parameters-from-the-complete-phonatory-range-of-an-excised-rabbit-larynx
#19
Randal D Mills, Keith Dodd, Alex Ablavsky, Erin Devine, Jack J Jiang
OBJECTIVE: This study aims to collect data throughout the complete phonatory range using rabbit larynges. STUDY DESIGN: This is a methodological excised rabbit larynx study. METHODS: Seven rabbit larynges were dissected and mounted on a modified excised laryngeal apparatus. Phonation was initiated at phonation threshold pressure (PTP) and airflow was increased by consistent increments until phonation instability pressure (PIP) was reached...
January 17, 2017: Journal of Voice: Official Journal of the Voice Foundation
https://www.readbyqxmd.com/read/28087356/long-term-sensitivity-and-patient-reported-functionality-of-the-neoclitoris-after-gender-reassignment-surgery
#20
Hannes Sigurjónsson, Caroline Möllermark, Johan Rinder, Filip Farnebo, T Kalle Lundgren
INTRODUCTION: A cornerstone of treating gender dysphoria for transgender women is gender reassignment surgery (GRS) encompassing vaginoplasty and clitoroplasty. The neoclitoris is harvested as a flap with a neurovascular pedicle from the proximal dorsal part of the glans penis. Few long-term follow-ups exist on postoperative sensation and patient-reported sexual functionality of the neoclitoris. AIM: To examine the sensitivity of the neoclitoris and its relation to orgasm and sexual function at least 1 year after GRS...
February 2017: Journal of Sexual Medicine
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