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https://www.readbyqxmd.com/read/28648811/a-case-of-improved-hearing-with-cochlear-implantation-in-gaucher-disease-type-1
#1
Shiori Endo, Kunihiro Mizuta, Takashi Yamatodani, Hiroshi Nakanishi, Kumiko Hosokawa, Kiyoshi Misawa, Seiji Hosokawa, Hiroyuki Mineta
Gaucher disease is a lysosomal storage disorder that is caused by congenital defective function of the enzyme glucocerebrosidase. Glucocerebroside that is not hydrolyzed by glucocerebrosidase mainly accumulates in the reticular tissue. We describe a Japanese boy with Gaucher disease type 1 who developed bilateral profound sensorineural hearing loss within approximately 4years. We performed cochlear implantation initially on his right ear and again on his left ear 5 months later. The cochlear implants were successfully utilized with a speech discrimination score of 95% on a Japanese sentence recognition test...
June 22, 2017: Auris, Nasus, Larynx
https://www.readbyqxmd.com/read/28648633/identification-of-evidence-for-autoimmune-pathology-of-bilateral-sudden-sensorineural-hearing-loss-using-proteomic-analysis
#2
Jeon Mi Lee, Jin Young Kim, Jinwoong Bok, Kyu-Sung Kim, Jae Young Choi, Sung Huhn Kim
Sudden sensorineural hearing loss (S-SNHL) is an inner ear disorder with an abrupt hearing loss occurring <3days. The pathologic mechanism of the disease remains unclear, although autoimmunity has been regarded as one of the suggested causes, especially in bilateral form. In this study, we aimed to provide evidence for the involvement of autoimmunity in bilateral S-SNHL using proteomic approaches such as ProtoArray®, western blotting, immunoprecipitation, and liquid column mass spectrometry for mass screening of candidate antigens and autoantibodies based on the hypothesis that multiple autoantibodies and target antigens must exist in order for autoimmune bilateral S-SNHL to develop...
June 22, 2017: Clinical Immunology: the Official Journal of the Clinical Immunology Society
https://www.readbyqxmd.com/read/28648509/pendred-syndrome
#3
REVIEW
Jean-Louis Wémeau, Peter Kopp
Pendred syndrome is an autosomal recessive disorder that is classically defined by the combination of sensorineural deafness/hearing impairment, goiter, and an abnormal organification of iodide with or without hypothyroidism. The hallmark of the syndrome is the impaired hearing, which is associated with inner ear malformations such as an enlarged vestibular aqueduct (EVA). The thyroid phenotype is variable and may be modified by the nutritional iodine intake. Pendred syndrome is caused by biallelic mutations in the SLC26A4/PDS gene, which encodes the multifunctional anion exchanger pendrin...
March 2017: Best Practice & Research. Clinical Endocrinology & Metabolism
https://www.readbyqxmd.com/read/28646272/rhesus-cochlear-and-vestibular-functions-are-preserved-after-inner-ear-injection-of-saline-volume-sufficient-for-gene-therapy-delivery
#4
Chenkai Dai, Mohamed Lehar, Daniel Q Sun, Lani Swarthout Rvt, John P Carey, Tim MacLachlan, Doug Brough, Hinrich Staecker, Alexandra M Della Santina, Timothy E Hullar, Charles C Della Santina
Sensorineural losses of hearing and vestibular sensation due to hair cell dysfunction are among the most common disabilities. Recent preclinical research demonstrates that treatment of the inner ear with a variety of compounds, including gene therapy agents, may elicit regeneration and/or repair of hair cells in animals exposed to ototoxic medications or other insults to the inner ear. Delivery of gene therapy may also offer a means for treatment of hereditary hearing loss. However, injection of a fluid volume sufficient to deliver an adequate dose of a pharmacologic agent could, in theory, cause inner ear trauma that compromises functional outcome...
June 23, 2017: Journal of the Association for Research in Otolaryngology: JARO
https://www.readbyqxmd.com/read/28645678/endolymphatic-hydrops-imaging-differential-diagnosis-in-patients-with-meniere-disease-symptoms
#5
A Attyé, M Eliezer, A Galloux, J Pietras, I Tropres, S Schmerber, G Dumas, A Krainik
PURPOSE: The goal of this retrospective study was to investigate the differential diagnosis of endolymphatic hydrops in patients with Meniere's disease (MD) symptoms by using magnetic resonance imaging (MRI) with intravenous injection of gadolinium chelate and delayed acquisition. MATERIAL AND METHOD: Two hundred patients (133 women, 67 men; mean age=67.2±11 ([SD] years) with unilateral MD underwent MRI at 3-T, between 4.5 and 5.5hours after intravenous administration of gadoterate meglumine at a dose of 0...
June 20, 2017: Diagnostic and Interventional Imaging
https://www.readbyqxmd.com/read/28642583/sox2-is-required-for-inner-ear-neurogenesis
#6
Aleta R Steevens, Danielle L Sookiasian, Jenna C Glatzer, Amy E Kiernan
Neurons of the cochleovestibular ganglion (CVG) transmit hearing and balance information to the brain. During development, a select population of early otic progenitors express NEUROG1, delaminate from the otocyst, and coalesce to form the neurons that innervate all inner ear sensory regions. At present, the selection process that determines which otic progenitors activate NEUROG1 and adopt a neuroblast fate is incompletely understood. The transcription factor SOX2 has been implicated in otic neurogenesis, but its requirement in the specification of the CVG neurons has not been established...
June 22, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28641772/susac-syndrome-a-differential-diagnosis-of-white-matter-lesions
#7
Mariano Marrodan, Jorge Correale, Lucas Alessandro, Mariela Amaya, Maria Eugenia Fracaro, Alejandro Alfredo Köhler, Marcela Fiol
INTRODUCTION: Susac Syndrome is an autoimmune endotheliopathy affecting capillaries and precapillary arterioles of the brain, inner ear and retina. The classic symptom triad includes visual disturbances, hypoacusia, and encephalopathy, but is rarely fully manifest at onset. The syndrome typically follows an active fluctuating monophasic course. Typical imaging findings on brain magnetic resonance show central fiber microischemias/microinfarctions of the corpus callosum known as "snow balls", as well as lineal infarcts and upper callosal fiber involvement...
July 2017: Multiple Sclerosis and related Disorders
https://www.readbyqxmd.com/read/28641325/superior-canal-dehiscence-syndrome-associated-with-scuba-diving
#8
Naoharu Kitajima, Akemi Sugita-Kitajima, Seiji Kitajima
A 28-year-old female diver presented with dizziness and difficulty clearing her left ear whilst scuba diving. Her pure-tone audiometry and tympanometry were normal. Testing of Eustachian tube function revealed tubal stenosis. Video-oculography revealed a predominantly torsional nystagmus while the patient was in the lordotic position. Fistula signs were positive. High-resolution computed tomography (HRCT) of the temporal bone revealed a diagnosis of bilateral superior semicircular canal dehiscence (SCDS). Cervical vestibular-evoked myogenic potential (cVEMP) testing showed that the amplitude of the cVEMP measured from her left ear was larger than that from the right...
June 2017: Diving and Hyperbaric Medicine: the Journal of the South Pacific Underwater Medicine Society
https://www.readbyqxmd.com/read/28641322/scuba-diving-and-otology-a-systematic-review-with-recommendations-on-diagnosis-treatment-and-post-operative-care
#9
REVIEW
Devon M Livingstone, Kristine A Smith, Beth Lange
Scuba diving is a popular recreational and professional activity with inherent risks. Complications related to barotrauma and decompression illness can pose significant morbidity to a diver's hearing and balance systems. The majority of dive-related injuries affect the head and neck, particularly the outer, middle and inner ear. Given the high incidence of otologic complications from diving, an evidence-based approach to the diagnosis and treatment of otic pathology is a necessity. We performed a systematic and comprehensive literature review including the pathophysiology, diagnosis, and treatment of otologic pathology related to diving...
June 2017: Diving and Hyperbaric Medicine: the Journal of the South Pacific Underwater Medicine Society
https://www.readbyqxmd.com/read/28639938/a-pilot-study-of-large-scale-production-of-mutant-pigs-by-enu-mutagenesis
#10
Tang Hai, Chunwei Cao, Haitao Shang, Weiwei Guo, Yanshuang Mu, Shulin Yang, Ying Zhang, Qiantao Zheng, Tao Zhang, Xianlong Wang, Yu Liu, Qingran Kong, Kui Li, Dayu Wang, Meng Qi, Qianlong Hong, Rui Zhang, Xiupeng Wang, Qitao Jia, Xiao Wang, Guosong Qin, Yongshun Li, Ailing Luo, Weiwu Jin, Jing Yao, Jiaojiao Huang, Hongyong Zhang, Menghua Li, Xiangmo Xie, Xuejuan Zheng, Kenan Guo, Qinhua Wang, Shibin Zhang, Liang Li, Fei Xie, Yu Zhang, Xiaogang Weng, Zhi Yin, Kui Hu, Yimei Cong, Peng Zheng, Hailong Zou, Leilei Xin, Jihan Xia, Jinxue Ruan, Hegang Li, Weiming Zhao, Jing Yuan, Zizhan Liu, Weiwang Gu, Ming Li, Yong Wang, Hongmei Wang, Shiming Yang, Zhonghua Liu, Hong Wei, Jianguo Zhao, Qi Zhou, Anming Meng
N-ethyl-N-nitrosourea (ENU) mutagenesis is a powerful tool to efficiently generate large scale of mutants and discover genes with novel functions at the whole-genome level in C. elegans, flies, zebrafish and mice, but has never been tried in large model animals. In the current study, we reported a successful systematic three-generation ENU mutagenesis screening in pigs with the establishment of Chinese Swine Mutagenesis Consortium. A total of 6,770 G1 and 6,800 G3 pigs were screened, 36 dominant and 91 recessive novel pig families with various phenotypes were established...
June 22, 2017: ELife
https://www.readbyqxmd.com/read/28639557/effects-of-selective-seratonine-re-uptake-inhibitors-on-meniere-s-disease
#11
Olcay Kıroğlu, Özgür Sürmelioğlu, Mete Kıroğlu
OBJECTIVE: To evaluate the effects of selective serotonin re-uptake inhibitors (SSRIs) on Meniere's disease (MD) on patients who have both MD and generalized anxiety disorder. MATERIALS AND METHODS: All patients were evaluated with neurotologic examination, videonystagmography, audiological tests, and inner ear magnetic resonance imaging. Characteristic history and the evaluation of the patients' vertigo attacks during the attacks were the primary criteria for the diagnosis of MD...
June 21, 2017: Journal of International Advanced Otology
https://www.readbyqxmd.com/read/28636944/transduction-of-repetitive-mechanical-stimuli-by-piezo1-and-piezo2-ion-channels
#12
Amanda H Lewis, Alisa F Cui, Malcolm F McDonald, Jörg Grandl
Several cell types experience repetitive mechanical stimuli, including vein endothelial cells during pulsating blood flow, inner ear hair cells upon sound exposure, and skin cells and their innervating dorsal root ganglion (DRG) neurons when sweeping across a textured surface or touching a vibrating object. While mechanosensitive Piezo ion channels have been clearly implicated in sensing static touch, their roles in transducing repetitive stimulations are less clear. Here, we perform electrophysiological recordings of heterologously expressed mouse Piezo1 and Piezo2 responding to repetitive mechanical stimulations...
June 20, 2017: Cell Reports
https://www.readbyqxmd.com/read/28636736/the-protective-effect-of-intratympanic-dexamethasone-on-streptomycin-ototoxicity-in-rats
#13
Aylin Gül, Engin Şengül, Beyhan Yılmaz, Fazıl Emre Özkurt, Mehmet Akdağ, Ayşenur Keleş, İsmail Topçu
The purpose of this experimental study was to investigate the protective role of intratympanically administered dexamethasone on the inner ears of rats that were exposed to streptomycin ototoxicity. Twenty-four adult Wistar albino rats were separated into 4 groups: Group 1 (only streptomycin), Group 2 (only intratympanic dexamethasone), Group 3 (streptomycin and intratympanic dexamethasone), and Group 4 (streptomycin and intratympanic saline). All rats were evaluated with distortion product otoacoustic emissions (DPOAE) tests before the start of treatment and on the day it ended...
June 2017: Ear, Nose, & Throat Journal
https://www.readbyqxmd.com/read/28631161/the-role-of-eabr-with-intracochlear-test-electrode-in-decision-making-between-cochlear-and-brainstem-implants-preliminary-results
#14
Betul Cicek Cinar, Mehmet Yarali, Gamze Atay, Munir Demir Bajin, Gonca Sennaroglu, Levent Sennaroglu
The objective of the study was to discuss the findings of intraoperative electrically evoked auditory brainstem response (eABR) test results with a recently designed intracochlear test electrode (ITE) in terms of their relation to decisions of cochlear or auditory brainstem implantation. This clinical study was conducted in Hacettepe University, Department of Otolaryngology, Head and Neck Surgery and Department of Audiology. Subjects were selected from inner ear malformation (IEM) database. Eleven subjects with profound sensorineural hearing loss were included in the current study with age range from 1 year 3 months to 4 years 3 months for children with prelingual hearing loss...
June 19, 2017: European Archives of Oto-rhino-laryngology
https://www.readbyqxmd.com/read/28630054/slc45a2-a-melanoma-antigen-with-high-tumor-selectivity-and-reduced-potential-for-autoimmune-toxicity
#15
Jungsun Park, Amjad H Talukder, Seonah Lim, Kwanghee Kim, Ke Pan, Brenda Melendez, Sherille D Bradley, Kyle Jackson, Jahan S Khalili, Junmei Wang, Caitlin Creasy, Bih-Fang Pan, Scott E Woodman, Chantale Bernatchez, David Hawke, Patrick Hwu, Kyung-Mi Lee, Jason Roszik, Gregory Lizee, Cassian Yee
Cytotoxic T lymphocyte (CTL)-based immunotherapies have had remarkable success at generating objective clinical responses in patients with advanced metastatic melanoma.  Although the melanocyte differentiation antigens (MDAs) MART-1, PMEL, and tyrosinase were among the first melanoma tumor-associated antigens identified and targeted with immunotherapy, expression within normal melanocytes of the eye and inner ear can elicit serious autoimmune side effects, thus limiting their clinical potential as CTL targets...
June 19, 2017: Cancer Immunology Research
https://www.readbyqxmd.com/read/28628917/anatomical-characteristics-of-facial-nerve-and-cochlea-interaction
#16
Nadine Schart-Morén, Sune Larsson, Helge Rask-Andersen, Hao Li
OBJECTIVE: The aim was to study the relationship between the labyrinthine portion (LP) of the facial canal and the cochlea in human inner ear molds and temporal bones using micro-CT and 3D rendering. A reduced cochlea-facial distance may spread electric currents from the cochlear implant to the LP and cause facial nerve stimulation. Influencing factors may be the topographic anatomy and otic capsule properties. METHODS: An archival collection of human temporal bones underwent micro-CT and 3D reconstruction...
June 20, 2017: Audiology & Neuro-otology
https://www.readbyqxmd.com/read/28621418/single-cell-analysis-of-the-inner-ear-sensory-organs
#17
Ofer Yizhar-Barnea, Karen B Avraham
The inner ear is composed of a complex mixture of cells, which together allow organisms to hear and maintain balance. The cells in the inner ear, which undergo an extraordinary process of development, have only recently begun to be studied on an individual level. As it has recently become clear that individual cells, previously considered to be of uniform character, may differ dramatically from each other, the need to study cell-to-cell variation, along with distinct transcriptional and regulatory signatures, has taken hold in the scientific community...
2017: International Journal of Developmental Biology
https://www.readbyqxmd.com/read/28620284/electrophysiological-measurements-of-peripheral-vestibular-function-a-review-of-electrovestibulography
#18
REVIEW
Daniel J Brown, Christopher J Pastras, Ian S Curthoys
Electrocochleography (EcochG), incorporating the Cochlear Microphonic (CM), the Summating Potential (SP), and the cochlear Compound Action Potential (CAP), has been used to study cochlear function in humans and experimental animals since the 1930s, providing a simple objective tool to assess both hair cell (HC) and nerve sensitivity. The vestibular equivalent of ECochG, termed here Electrovestibulography (EVestG), incorporates responses of the vestibular HCs and nerve. Few research groups have utilized EVestG to study vestibular function...
2017: Frontiers in Systems Neuroscience
https://www.readbyqxmd.com/read/28618821/low-intensity-ultrasound-activates-vestibular-otolith-organs-through-acoustic-radiation-force
#19
M M Iversen, D A Christensen, D L Parker, H A Holman, J Chen, M J Frerck, R D Rabbitt
The present study examined the efficacy of 5 MHz low-intensity focused ultrasound (LiFU) as a stimulus to remotely activate inner ear vestibular otolith organs. The otolith organs are the primary sensory apparati responsible for detecting orientation of the head relative to gravity and linear acceleration in three-dimensional space. These organs also respond to loud sounds and vibration of the temporal bone. The oyster toadfish, Opsanus tau, was used to facilitate unobstructed acoustic access to the otolith organs in vivo...
June 2017: Journal of the Acoustical Society of America
https://www.readbyqxmd.com/read/28614181/cochleovestibular-gene-transfer-in-neonatal-mice-by-canalostomy
#20
Jing-Ying Guo, Yu-Ying Liu, Teng-Fei Qu, Zhe Peng, Jing Xie, Guo-Peng Wang, Shu-Sheng Gong
Impairments of the inner ear result in sensorineural hearing loss and vestibular dysfunction in humans. A large proportion of these disorders are congenital, and involve both auditory and vestibular systems. Therefore, genetic interventions to correct deficits must be administered during early developmental stages. In this study, we evaluated inner ear gene transfer in neonatal mice by canalostomy using an adeno-associated virus serotype 8 (AAV8) vector. AAV8 with the green fluorescence protein (GFP) gene was inoculated into the inner ear of the neonatal mice through the posterior semicircular canal (canalostomy)...
June 13, 2017: Neuroreport
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