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https://www.readbyqxmd.com/read/28545070/pou4f3-mutation-screening-in-japanese-hearing-loss-patients-massively-parallel-dna-sequencing-based-analysis-identified-novel-variants-associated-with-autosomal-dominant-hearing-loss
#1
Tomohiro Kitano, Maiko Miyagawa, Shin-Ya Nishio, Hideaki Moteki, Kiyoshi Oda, Kenji Ohyama, Hiromitsu Miyazaki, Hiroshi Hidaka, Ken-Ichi Nakamura, Takaaki Murata, Rina Matsuoka, Yoko Ohta, Nobuhiro Nishiyama, Kozo Kumakawa, Sakiko Furutate, Satoshi Iwasaki, Takechiyo Yamada, Yumi Ohta, Natsumi Uehara, Yoshihiro Noguchi, Shin-Ichi Usami
A variant in a transcription factor gene, POU4F3, is responsible for autosomal dominant nonsyndromic hereditary hearing loss, DFNA15. To date, 14 variants, including a whole deletion of POU4F3, have been reported to cause HL in various ethnic groups. In the present study, genetic screening for POU4F3 variants was carried out for a large series of Japanese hearing loss (HL) patients to clarify the prevalence and clinical characteristics of DFNA15 in the Japanese population. Massively parallel DNA sequencing of 68 target candidate genes was utilized in 2,549 unrelated Japanese HL patients (probands) to identify genomic variations responsible for HL...
2017: PloS One
https://www.readbyqxmd.com/read/28543184/a-systematic-review-of-patient-reported-measures-associated-with-vestibular-dysfunction
#2
REVIEW
Vicky M Stewart, M Dilani Mendis, Nancy Low Choy
OBJECTIVES/HYPOTHESIS: Use of clinical questionnaires to assist in the screening of vestibular disorders in the acute hospital setting is needed. The objective is to detail the clinimetric properties and clinical utility of patient-reported questionnaires for quantifying dizziness/vertigo symptoms associated with vestibular dysfunction, and to determine validity and utility for screening dizziness/vertigo in the emergency department. DATA SOURCES: We performed a systematic review of PubMed, CINAHL, Embase, and Web of Science in May 2015...
May 23, 2017: Laryngoscope
https://www.readbyqxmd.com/read/28543062/an-adaptive-vestibular-rehabilitation-technique
#3
Benjamin T Crane, Michael C Schubert
OBJECTIVES/HYPOTHESIS: There is a large variation in vestibular rehabilitation (VR) results depending on type of therapy, adherence, and the appropriateness for the patient's level of function. A novel adaptive vestibular rehabilitation (AVR) program was developed and evaluated. STUDY DESIGN: Technology and procedure development, and prospective multicenter trial. METHODS: Those with complete unilateral vestibular hypofunction and symptomatic at least 3 months with a Dizziness Handicap Inventory (DHI) >30 were eligible...
May 23, 2017: Laryngoscope
https://www.readbyqxmd.com/read/28542695/partial-resection-in-microsurgical-management-of-vestibular-schwannomas
#4
Michael S Harris, Aaron C Moberly, Oliver F Adunka
No abstract text is available yet for this article.
May 25, 2017: JAMA Otolaryngology—Head & Neck Surgery
https://www.readbyqxmd.com/read/28542688/bilateral-hearing-and-vestibular-loss-in-a-patient-with-untreated-chronic-myeloid-leukemia
#5
Liyang Tang, Michael Schubert, Andrea Marlowe, Heather Weinreich
No abstract text is available yet for this article.
May 25, 2017: JAMA Otolaryngology—Head & Neck Surgery
https://www.readbyqxmd.com/read/28542112/effects-of-vestibular-rehabilitation-on-gait-performance-in-poststroke-patients-a-pilot-randomized-controlled-trial
#6
Tsubasa Mitsutake, Maiko Sakamoto, Kozo Ueta, Shinichiro Oka, Etsuo Horikawa
The effects of vestibular rehabilitation on poststroke patients are unknown. This study aimed to investigate whether or not vestibular rehabilitation would improve both the vestibulo-ocular reflex and gait performance of patients with poststroke hemiparesis. Twenty-eight patients with stroke were assigned randomly to either an experimental group (N=14) or a control group (N=14). The experimental group performed the conventional physical therapy for 40 min and vestibular rehabilitation for 20 min, as a 60 min session, during the first 3 weeks and then completed only the conventional intervention for 60 min for the following 3 weeks...
May 24, 2017: International Journal of Rehabilitation Research. Revue Internationale de Recherches de Réadaptation
https://www.readbyqxmd.com/read/28541766/the-clinical-utility-of-vestibular-autorotation-test-in-patients-with-vestibular-migraine
#7
Yogun Thungavelu, Wei Wang, Peng Lin, Taisheng Chen, Kaixu Xu
OBJECTIVE: To investigate the characteristics and clinical utility of vestibular autorotation test (VAT) in patients with vestibular migraine. METHODS: This study included two groups, an experimental group (441 patients) and a control group (65 healthy subjects). Both groups undertook VAT; the parameters evaluated were horizontal gain/phase, vertical gain/phase and asymmetry. The differences in VAT results between the two groups were investigated. RESULTS: There were no statistical differences between the VAT data of the control group when compared to the reference value from the manufacturer (p > ...
May 25, 2017: Acta Oto-laryngologica
https://www.readbyqxmd.com/read/28538150/lanthanides-report-calcium-sensor-in-the-vestibule-of-ryanodine-receptor
#8
Sándor Sárközi, István Komáromi, István Jóna, János Almássy
Ca(2+) regulates ryanodine receptor's (RyR) activity through an activating and an inhibiting Ca(2+)-binding site located on the cytoplasmic side of the RyR channel. Their altered sensitivity plays an important role in the pathology of malignant hyperthermia and heart failure. We used lanthanide ions (Ln(3+)) as probes to investigate the Ca(2+) sensors of RyR, because they specifically bind to Ca(2+)-binding proteins and they are impermeable to the channel. Eu(3+)'s and Sm(3+)'s action was tested on single RyR1 channels reconstituted into planar lipid bilayers...
May 23, 2017: Biophysical Journal
https://www.readbyqxmd.com/read/28537687/the-effect-of-optimizing-eabr-parameters-in-artificial-cochlear-implantation-for-auditory-rehabilitation
#9
H-L Yang, Z Liu
OBJECTIVE: The objective of the present study was to observe the relationship between V extraction rate and threshold value of electrically evoked auditory brainstem response (EABR) waves in artificial cochlear implantation, in order to optimize EABR parameters for improving auditory rehabilitation. PATIENTS AND METHODS: Thirty patients without residual hearing and treated with artificial cochlear implants were selected. The experimental group included 17 cases with normal cochlear morphology, four with large vestibular aqueduct syndrome (LVAS), six with Mondini malformation, and three with internal auditory canal stenosis...
May 2017: European Review for Medical and Pharmacological Sciences
https://www.readbyqxmd.com/read/28536922/head-shaking-tilt-suppression-a-clinical-test-to-discern-central-from-peripheral-causes-of-vertigo
#10
F C Zuma E Maia, Renato Cal, Ricardo D'Albora, Sergio Carmona, Michael C Schubert
Tilt suppression refers to both tilting the head away from an Earth vertical axis and a reduction of an induced horizontal nystagmus. This phenomenon of reducing an induced horizontal nystagmus involves a circuitry of neurons within the vestibular nuclei and the cerebellum (collectively referred to as velocity storage) and signals from the otolith end organs. Lesions involving this circuitry can disrupt tilt suppression of induced horizontal nystagmus. We investigated the clinical value of combining the horizontal head-shaking nystagmus test with tilt suppression in 28 patients with unilateral peripheral vestibular hypofunction and 11 patients with lesions affecting the central nervous system...
May 23, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28536486/emerging-indications-for-fractionated-gamma-knife-radiosurgery
#11
Emory McTyre, Corbin A Helis, Michael Farris, Lisa Wilkins, Darrell Sloan, William H Hinson, J Daniel Bourland, William A Dezarn, Michael T Munley, Kounosuke Watabe, Fei Xing, Adrian W Laxton, Stephen B Tatter, Michael D Chan
BACKGROUND: Gamma Knife radiosurgery (GKRS) allows for the treatment of intracranial tumors with a high degree of dose conformality and precision. There are, however, certain situations wherein the dose conformality of GKRS is desired, but single session treatment is contraindicated. In these situations, a traditional pin-based GKRS head frame cannot be used, as it precludes fractionated treatment. OBJECTIVE: To report our experience in treating patients with fractionated GKRS using a relocatable, noninvasive immobilization system...
February 1, 2017: Neurosurgery
https://www.readbyqxmd.com/read/28535812/current-insights-in-noise-induced-hearing-loss-a-literature-review-of-the-underlying-mechanism-pathophysiology-asymmetry-and-management-options
#12
REVIEW
Trung N Le, Louise V Straatman, Jane Lea, Brian Westerberg
BACKGROUND: Noise-induced hearing loss is one of the most common forms of sensorineural hearing loss, is a major health problem, is largely preventable and is probably more widespread than revealed by conventional pure tone threshold testing. Noise-induced damage to the cochlea is traditionally considered to be associated with symmetrical mild to moderate hearing loss with associated tinnitus; however, there is a significant number of patients with asymmetrical thresholds and, depending on the exposure, severe to profound hearing loss as well...
May 23, 2017: Journal of Otolaryngology—Head & Neck Surgery
https://www.readbyqxmd.com/read/28534737/integration-of-tmc1-2-into-the-mechanotransduction-complex-in-zebrafish-hair-cells-is-regulated-by-transmembrane-o-methyltransferase-tomt
#13
Timothy Erickson, Clive P Morgan, Jennifer Olt, Katherine Hardy, Elisabeth M Busch-Nentwich, Reo Maeda, Rachel Clemens-Grisham, Jocelyn F Krey, Alex V Nechiporuk, Peter G Barr-Gillespie, Walter Marcotti, Teresa Nicolson
Transmembrane O-methyltransferase (TOMT / LRTOMT) is responsible for non-syndromic deafness DFNB63. However, the specific defects that lead to hearing loss have not been described. Using a zebrafish model of DFNB63, we show that the auditory and vestibular phenotypes are due to a lack of mechanotransduction (MET) in Tomt-deficient hair cells. GFP-tagged Tomt is enriched in the Golgi of hair cells, suggesting that Tomt might regulate the trafficking of other MET components to the hair bundle. We found that Tmc1/2 proteins are specifically excluded from the hair bundle in tomt mutants, whereas other MET complex proteins can still localize to the bundle...
May 23, 2017: ELife
https://www.readbyqxmd.com/read/28534730/big-stimulus-little-ears-safety-in-administering-vestibular-evoked-myogenic-potentials-in-children
#14
Megan L A Thomas, Denis Fitzpatrick, Ryan McCreery, Kristen L Janky
BACKGROUND: Cervical and ocular vestibular-evoked myogenic potentials (VEMPs) have become common clinical vestibular assessments. However, VEMP testing requires high intensity stimuli, raising concerns regarding safety with children, where sound pressure levels may be higher due to their smaller ear canal volumes. PURPOSE: The purpose of this study was to estimate the range of peak-to-peak equivalent sound pressure levels (peSPLs) in child and adult ears in response to high intensity stimuli (i...
May 2017: Journal of the American Academy of Audiology
https://www.readbyqxmd.com/read/28534727/under-pressure-vestibular-evoked-myogenic-potentials-and-the-auditory-stimuli-that-evoke-them
#15
EDITORIAL
Devin L McCaslin
No abstract text is available yet for this article.
May 2017: Journal of the American Academy of Audiology
https://www.readbyqxmd.com/read/28534686/hashimoto-s-thyroiditis-and-vestibular-dysfunction
#16
Giuseppe Chiarella, Diego Russo, Fabio Monzani, Claudio Petrolo, Bruno Fattori, Giuseppe Pasqualetti, Ettore Cassandro, Giuseppe Costante
The aim of this review was to analyze the existing literature concerning the relationship between Hashimoto's thyroiditis (HT) and vestibular dysfunction. METHODS: We used electronic databases (PubMed, EMBASE, Cochrane Library) to search and collect all published articles about association between HT and vestibular disorders. RESULTS: Several observational and retrospective studies have postulated a relationship of thyroid autoimmunity and vestibular disorders. In most cases, an appropriate control group was lacking and the impact of thyroid functional status could not precisely be established...
May 23, 2017: Endocrine Practice
https://www.readbyqxmd.com/read/28534074/facial-nerve-sparing-surgery-for-large-vestibular-schwannomas
#17
Paolo Ferroli, Lorenzo Bosio, Morgan Broggi
BACKGROUND: Nowadays, there is a general trend in vestibular schwannoma (VS) surgery favoring near-total or subtotal tumor resection (NTR/STR) with facial nerve (FN) function preservation rather than gross total resection (GTR) with high risk of FN damage. METHODS: The surgical technique of FN sparing in large VS includes patient-tailored image-guided craniotomy, continuous intraoperative neurophysiological monitoring (INM), intracapsular wide tumor debulking, and only final extracapsular dissection with FN course identification and brainstem decompression...
May 22, 2017: Acta Neurochirurgica
https://www.readbyqxmd.com/read/28533763/is-alteration-of-tuning-property-in-cervical-vestibular-evoked-myogenic-potential-specific-for-m%C3%A3-ni%C3%A3-re-s-disease
#18
Toshihisa Murofushi, Masahito Tsubota, Ryota Suizu, Eriko Yoshimura
OBJECTIVE: The aim of this study is to show sensitivity and specificity of cervical vestibular-evoked myogenic potential (cVEMP) tuning property test to Ménière's disease (MD) in comparison with healthy controls (HC) and patients with other vestibular diseases. SUBJECTS: Totally 92 subjects (50 women and 42 men, 20-77 years of age) were enrolled in this study. Subjects were composed of 38 definite unilateral MD patients, 11 unilateral benign paroxysmal positional vertigo patients, 14 vestibular migraine patients, 19 unilateral vestibular neuritis patients, and 10 HC...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28531938/indication-of-surgical-management-of-vestibular-schwannoma-in-the-older-age-group-mysteries-still-unsolved
#19
Guru Dutta Satyarthee, Gaurav Jain
No abstract text is available yet for this article.
May 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28531896/gamma-knife-radiosurgery-for-vestibular-schwannomas-and-quality-of-life-evaluation
#20
Oren Berkowitz, Yueh-Ying Han, Evelyn O Talbott, Aditya K Iyer, Hideyuki Kano, Douglas Kondziolka, Mason A Brown, L Dade Lunsford
BACKGROUND: Further investigation is needed to look at the impact of vestibular schwannoma (VS) on the health-related quality of life (QOL) of participants who undergo Gamma Knife® radiosurgery (GKRS). OBJECTIVES: Investigators compared the QOL for VS participants to reported US population norms in order to evaluate disease burden and long-term QOL several years after GKRS. METHODS: This cross-sectional study surveyed participants to assess hearing status, tinnitus, imbalance, vertigo, as well as the Short-Form 36-item Health Questionnaire (SF-36)...
May 23, 2017: Stereotactic and Functional Neurosurgery
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