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https://www.readbyqxmd.com/read/28357181/prevalence-of-vestibular-symptoms-in-individuals-with-auditory-neuropathy-spectrum-disorder-a-retrospective-study
#1
Prashanth Prabhu, Pratyasha Jamuar
The objective of the study was to retrospectively determine the prevalence of vestibular symptoms in individuals with auditory neuropathy spectrum disorder (ANSD). It was also attempted to determine the prevalence of vestibular symptoms and factors (gender and age of reported hearing loss) that could affect the prevalence in individuals with ANSD. The vestibular symptoms reported in the case history were analyzed in individuals diagnosed with ANSD. The symptoms reported by a total of 316 individuals (185 females and 131 males) with ANSD were analyzed...
February 2017: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/28346294/diagnosis-and-treatment-of-vestibular-neuritis-neuronitis-or-peripheral-vestibulopathy-pvp-open-questions-and-possible-answers
#2
Stefan C A Hegemann, Angela Wenzel
The acute vestibular syndrome is a clinically defined entity consisting of vertigo or dizziness that develops acutely over minutes to hours and is accompanied by nausea/vomiting, gait instability, head motion intolerance, and nystagmus, while persisting over a day or more. When it is caused by a peripheral vestibular lesion and is not associated with clinically manifest auditory deficits, it is mostly labeled vestibular neuritis/neuronitis/neuropathy or sometimes peripheral vestibulopathy. Here, we propose hypotheses and discuss current research advances on viral or vascular factors in the pathogenesis, the recurrence, the site of lesion, old and new treatment options, contraindicated measures, the differential diagnosis, and the prognosis of vestibular neuritis/neuronitis/neuropathy or vestibulopathy...
March 24, 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/28335750/novel-compound-heterozygous-mutations-in-the-otof-gene-identified-by-whole-exome-sequencing-in-auditory-neuropathy-spectrum-disorder
#3
Fengzhu Tang, Dengke Ma, Yulan Wang, Yuecai Qiu, Fei Liu, Qingqing Wang, Qiutian Lu, Min Shi, Liang Xu, Min Liu, Jianping Liang
BACKGROUND: Many hearing-loss diseases are demonstrated to have Mendelian inheritance caused by mutations in single gene. However, many deaf individuals have diseases that remain genetically unexplained. Auditory neuropathy is a sensorineural deafness in which sounds are able to be transferred into the inner ear normally but the transmission of the signals from inner ear to auditory nerve and brain is injured, also known as auditory neuropathy spectrum disorder (ANSD). The pathogenic mutations of the genes responsible for the Chinese ANSD population remain poorly understood...
March 23, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28257146/randomized-controlled-trial-of-neurofeedback-on-chemotherapy-induced-peripheral-neuropathy-a-pilot-study
#4
Sarah Prinsloo, Diane Novy, Larry Driver, Randall Lyle, Lois Ramondetta, Cathy Eng, Jennifer McQuade, Gabriel Lopez, Lorenzo Cohen
BACKGROUND: Chemotherapy-induced peripheral neuropathy (CIPN) is a significant problem for cancer patients, and there are limited treatment options for this often debilitating condition. Neuromodulatory interventions could be a novel modality for patients trying to manage CIPN symptoms; however, they are not yet the standard of care. This study examined whether electroencephalogram (EEG) neurofeedback (NFB) could alleviate CIPN symptoms in survivors. METHODS: This was a randomized controlled trial with survivors assigned to an NFB group or a wait-list control (WLC) group...
March 3, 2017: Cancer
https://www.readbyqxmd.com/read/28225734/auditory-performance-and-electrical-stimulation-measures-in-cochlear-implant-recipients-with-auditory-neuropathy-compared-with-severe-to-profound-sensorineural-hearing-loss
#5
Joseph Attias, Tally Greenstein, Miriam Peled, David Ulanovski, Jay Wohlgelernter, Eyal Raveh
OBJECTIVES: The aim of the study was to compare auditory and speech outcomes and electrical parameters on average 8 years after cochlear implantation between children with isolated auditory neuropathy (AN) and children with sensorineural hearing loss (SNHL). DESIGN: The study was conducted at a tertiary, university-affiliated pediatric medical center. The cohort included 16 patients with isolated AN with current age of 5 to 12.2 years who had been using a cochlear implant for at least 3...
March 2017: Ear and Hearing
https://www.readbyqxmd.com/read/28214652/unilateral-oculomotor-palsy-in-charcot-marie-tooth-disease-1a-cmt-1a
#6
A Posa, A Emmer, M E Kornhuber
BACKGROUND: Charcot-Marie-Tooth disease (CMT) type 1A is the most common form of CMT 1 and one of the autosomal dominant demyelinating hereditary motor and sensory neuropathies (HMSN). Cranial nerves may be frequently subclinically affected in CMT disease. However manifest clinical signs of cranial nerve involvement are rare. METHODS: This case comprise neurological, ophthalmological, internal medicine and ear-nose-throat investigation, motor and sensory nerve conduction velocity, auditory evoked potentials and orbicularis-oculi reflex measurements, lumbar puncture and blood examination, inclusive molecular genetic testing, as well as electrocardiogram and cranial imaging such as computer tomography and magnetic resonance imaging RESULTS: The present case shows a Charcot-Marie-Tooth (CMT) 1A patient with complete unilateral oculomotor palsy in combination with predominant ipsilateral subclinical trigeminal demyelination...
April 2017: Clinical Neurology and Neurosurgery
https://www.readbyqxmd.com/read/28211470/transient-auditory-nerve-demyelination-as-a-new-mechanism-for-hidden-hearing-loss
#7
Guoqiang Wan, Gabriel Corfas
Hidden hearing loss (HHL) is a recently described auditory neuropathy believed to contribute to speech discrimination and intelligibility deficits in people with normal audiological tests. Animals and humans with HHL have normal auditory thresholds but defective cochlear neurotransmission, that is, reduced suprathreshold amplitude of the sound-evoked auditory nerve compound action potential. Currently, the only cellular mechanism known for HHL is loss of inner hair cell synapses (synaptopathy). Here we report that transient loss of cochlear Schwann cells results in permanent auditory deficits characteristic of HHL...
February 17, 2017: Nature Communications
https://www.readbyqxmd.com/read/28209736/pejvakin-a-candidate-stereociliary-rootlet-protein-regulates-hair-cell-function-in-a-cell-autonomous-manner
#8
Marcin Kazmierczak, Piotr Kazmierczak, Anthony W Peng, Suzan L Harris, Prahar Shah, Jean-Luc Puel, Marc Lenoir, Santos J Franco, Martin Schwander
Mutations in the Pejvakin (PJVK) gene are thought to cause auditory neuropathy and hearing loss of cochlear origin by affecting noise-induced peroxisome proliferation in auditory hair cells and neurons. Here we demonstrate that loss of pejvakin in hair cells, but not in neurons, causes profound hearing loss and outer hair cell degeneration in mice. Pejvakin binds to and colocalizes with the rootlet component TRIOBP at the base of stereocilia in injectoporated hair cells, a pattern that is disrupted by deafness-associated PJVK mutations...
March 29, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28174524/ups-and-downs-in-75-years-of-electrocochleography
#9
REVIEW
Jos J Eggermont
Before 1964, electrocochleography (ECochG) was a surgical procedure carried out in the operating theatre. Currently, the newest application is also an intra-operative one, often carried out in conjunction with cochlear implant surgery. Starting in 1967, the recording methods became either minimal- or not-invasive, i.e., trans-tympanic (TT) or extra tympanic (ET), and included extensive studies of the arguments pro and con. I will review several valuable applications of ECochG, from a historical point of view, but covering all 75 years if applicable...
2017: Frontiers in Systems Neuroscience
https://www.readbyqxmd.com/read/28089576/conditional-deletion-of-pejvakin-in-adult-outer-hair-cells-causes-progressive-hearing-loss-in-mice
#10
Suzan L Harris, Marcin Kazmierczak, Tina Pangršič, Prahar Shah, Nadiya Chuchvara, Alonso Barrantes-Freer, Tobias Moser, Martin Schwander
Mutations in the Pejvakin (Pjvk) gene cause autosomal recessive hearing loss DFNB59 with audiological features of auditory neuropathy spectrum disorder (ANSD) or cochlear dysfunction. The precise mechanisms underlying the variable clinical phenotypes of DFNB59 remain unclear. Here, we demonstrate that mice with conditional ablation of the Pjvk gene in all sensory hair cells or only in outer hair cells (OHCs) show similar auditory phenotypes with early-onset profound hearing loss. By contrast, loss of Pjvk in adult OHCs causes a slowly progressive hearing loss associated with OHC degeneration and delayed loss of inner hair cells (IHCs), indicating a primary role for pejvakin in regulating OHC function and survival...
March 6, 2017: Neuroscience
https://www.readbyqxmd.com/read/28058271/remodeling-of-the-inner-hair-cell-microtubule-meshwork-in-a-mouse-model-of-auditory-neuropathy-auna1
#11
Clément Surel, Marie Guillet, Marc Lenoir, Jérôme Bourien, Gaston Sendin, Willy Joly, Benjamin Delprat, Marci M Lesperance, Jean-Luc Puel, Régis Nouvian
Auditory neuropathy 1 (AUNA1) is a form of human deafness resulting from a point mutation in the 5' untranslated region of the Diaphanous homolog 3 (DIAPH3) gene. Notably, the DIAPH3 mutation leads to the overexpression of the DIAPH3 protein, a formin family member involved in cytoskeleton dynamics. Through study of diap3-overexpressing transgenic (Tg) mice, we examine in further detail the anatomical, functional, and molecular mechanisms underlying AUNA1. We identify diap3 as a component of the hair cells apical pole in wild-type mice...
November 2016: ENeuro
https://www.readbyqxmd.com/read/28050358/to-study-brain-stem-auditory-evoked-potential-in-patients-with-type-2-diabetes-mellitus-a-cross-sectional-comparative-study
#12
Mishra Indira Sushil, J N Muneshwar, Sayeeda Afroz
INTRODUCTION: Neuropathy is one of the commonest complications of Diabetes Mellitus (DM). Apart from having peripheral and autonomic neuropathy patients with type 2 DM may also suffer from sensory neural hearing loss, which is more severe at higher frequencies. However, few studies have done detailed evaluation of sensory pathway in these patients. In this study brain stem auditory evoked potential is used to detect the acoustic and central neuropathy in a group of patients with type 2 DM with controlled and uncontrolled blood sugar...
November 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28017249/slowly-progressive-d-bifunctional-protein-deficiency-with-survival-to-adulthood-diagnosed-by-whole-exome-sequencing
#13
Takashi Matsukawa, Kagari Mano Koshi, Jun Mitsui, Taro Bannai, Miho Kawabe, Hiroyuki Ishiura, Yasuo Terao, Jun Shimizu, Keiko Murayama, Jun Yoshimura, Koichiro Doi, Shinichi Morishita, Shoji Tsuji, Jun Goto
d-Bifunctional protein (DBP) deficiency is an autosomal recessive disorder of peroxisomal fatty acid oxidation caused by mutations in HSD17B4. It is typically fatal by the age of two years with symptom onset during the neonatal period, and survival until late childhood is rare. We herein report the case of a patient with DBP deficiency surviving until adulthood, who showed severe sensorineural deafness, disturbances in language acquisition, slowly progressive cerebellar ataxia, and peripheral neuropathy. This patient, in whom findings of prior investigations were nondiagnostic, had been followed up as having an early-onset spinocerebellar degeneration of unknown etiology...
January 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/27942602/audiological-profile-of-adult-persons-with-auditory-neuropathy-spectrum-disorders
#14
Pradeep Yuvaraj, Mannarukrishnaiah Jayaram
BACKGROUND AND OBJECTIVES: The auditory profile of a large number of persons with late onset auditory neuropathy spectrum disorder (ANSD) is recently described in the Indian context. The purpose of study was 1) to profile data on routine audiological parameters, cortical evoked potentials, and temporal processing, 2) to analyze the benefit from hearing aids for persons with ANSD, and 3) to understand the association between benefit from hearing aids and auditory profile. SUBJECTS AND METHODS: Thirty-eight adults with late onset ANSD and a matched group of 40 normally hearing adults participated in the study...
December 2016: Journal of Audiology & Otology
https://www.readbyqxmd.com/read/27891689/deficit-in-acoustic-signal-in-noise-detection-in-glycine-receptor-%C3%AE-3-subunit-knockout-mice
#15
Konstantin Tziridis, Stefanie Buerbank, Volker Eulenburg, Julia Dlugaiczyk, Holger Schulze
Hearing is an essential sense for communication in animals and humans. Normal function of the cochlea of higher vertebrates relies on a fine-tuned interplay of afferent and efferent innervation of both inner and outer hair cells. Efferent inhibition is controlled via olivocochlear feedback loops, mediated mainly by acetylcholine, γ-aminobutyric acid (GABA) and glycine, and is one of the first sites affected by synapto- and neuropathy in the development of hearing loss. While the functions of acetylcholine, GABA and other inhibitory transmitters within these feedback loops are at least partially understood, especially the function of glycine still remains elusive...
November 27, 2016: European Journal of Neuroscience
https://www.readbyqxmd.com/read/27885979/gender-differences-in-audiological-findings-and-hearing-aid-benefit-in-255-individuals-with-auditory-neuropathy-spectrum-disorder-a-retrospective-study
#16
Vijaya Kumar Narne, Prashanth Prabhu, Hunsur S Chandan, Mahadeva Deepthi
BACKGROUND: There are many studies reported in the literature that have summarized audiological findings and possible rehabilitation in individuals with auditory neuropathy spectrum disorder (ANSD). However, there are very few studies that have attempted to delineate the gender differences in audiological characteristics and hearing aid benefit in individuals with ANSD. PURPOSE: The study aimed to explore the differences between males and females in terms of demographic details, audiogram, speech identification scores, otoacoustic emissions, acoustic reflexes, long latency responses, and hearing aid benefit...
November 2016: Journal of the American Academy of Audiology
https://www.readbyqxmd.com/read/27865214/-auditory-neuropathy-clinical-evaluation-and-diagnostic-approach
#17
Guilherme Machado Carvalho, Beatriz Prista Leão, Priscila Zonzini Ramos, Alexandre Caixeta Guimarães, Arthur Menino Castilho, Edi Lúcia Sartorato
INTRODUCTION: Auditory neuropathy is a condition in which there is a change in the neuronal transmission of the auditory stimuli. Our objective was to describe the patients' series within the clinical spectrum of auditory neuropathy. MATERIAL AND METHODS: We designed a transversal, retrospective study, with a description of a consecutive case series. Auditory neuropathy was defined by the presence of acoustic otoemissions plus absent/abnormal auditory brainstem responses with cochlear microphonism...
June 2016: Acta Médica Portuguesa
https://www.readbyqxmd.com/read/27843504/relationship-between-patients-with-clinical-auditory-neuropathy-spectrum-disorder-and-mutations-in-gjb2-gene
#18
Guilherme M de Carvalho, Priscila Z Ramos, Arthur M Castilho, Alexandre C Guimarães, Edi L Sartorato
The auditory neuropathy is a condition which there is a dyssynchrony in the nerve conduction of the auditory nerve fibers. There is no evidence about the relationship between patients with clinical auditory neuropathy spectrum disorder and mutations in GJB2 gene. There are only two studies about this topic in the medical literature. Connexin 26 (GJB2 gene) mutations are common causes of genetic deafness in many populations and we also being reported in subjects with auditory neuropathy. OBJECTIVE: To analyze the pattern of clinical relationship between patients with clinical diagnosis with auditory neuropathy spectrum disorder and GJB2 gene...
2016: Open Neurology Journal
https://www.readbyqxmd.com/read/27761598/seeing-the-sound-after-visual-loss-functional-mri-in-acquired-auditory-visual-synesthesia
#19
Zixin Yong, Po-Jang Hsieh, Dan Milea
Acquired auditory-visual synesthesia (AVS) is a rare neurological sign, in which specific auditory stimulation triggers visual experience. In this study, we used event-related fMRI to explore the brain regions correlated with acquired monocular sound-induced phosphenes, which occurred 2 months after unilateral visual loss due to an ischemic optic neuropathy. During the fMRI session, 1-s pure tones at various pitches were presented to the patient, who was asked to report occurrence of sound-induced phosphenes by pressing one of the two buttons (yes/no)...
October 19, 2016: Experimental Brain Research. Experimentelle Hirnforschung. Expérimentation Cérébrale
https://www.readbyqxmd.com/read/27759031/whole-exome-sequencing-identifies-novel-variants-in-pnpt1-causing-oxidative-phosphorylation-defects-and-severe-multisystem-disease
#20
Ahmad Alodaib, Nara Sobreira, Wendy A Gold, Lisa G Riley, Nicole J Van Bergen, Meredith J Wilson, Bruce Bennetts, David R Thorburn, Corinne Boehm, John Christodoulou
Recent advances in next-generation sequencing strategies have led to the discovery of many novel disease genes. We describe here a non-consanguineous family with two affected boys presenting with early onset of severe axonal neuropathy, optic atrophy, intellectual disability, auditory neuropathy and chronic respiratory and gut disturbances. Whole-exome sequencing (WES) was performed on all family members and we identified compound heterozygous variants (c.[760C>A];[1528G>C];p.[(Gln254Lys);(Ala510Pro)] in the polyribonucleotide nucleotidyltransferase 1 (PNPT1) gene in both affected individuals...
January 2016: European Journal of Human Genetics: EJHG
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