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https://www.readbyqxmd.com/read/28089576/conditional-deletion-of-pejvakin-in-adult-outer-hair-cells-causes-progressive-hearing-loss-in-mice
#1
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...
January 9, 2017: Neuroscience
https://www.readbyqxmd.com/read/28058271/remodeling-of-the-inner-hair-cell-microtubule-meshwork-in-a-mouse-model-of-auditory-neuropathy-auna1
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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...
2016: Open Neurology Journal
https://www.readbyqxmd.com/read/27761598/seeing-the-sound-after-visual-loss-functional-mri-in-acquired-auditory-visual-synesthesia
#10
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
#11
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
https://www.readbyqxmd.com/read/27755139/performance-intensity-function-and-aided-improvement-in-individuals-with-late-onset-auditory-neuropathy-spectrum-disorder
#12
Jijo Pottackal Mathai, Asha Yathiraj
OBJECTIVES: The purpose of the study was to explore the effect of intensity on speech perception in individuals with late-onset auditory neuropathy spectrum disorder (ANSD) by obtaining their performance-intensity (PI) function. Additionally, the study investigated the effect of PI function on aided speech perception. It was hypothesized that speech perception abilities of individuals with ANSD vary with intensity and may provide information regarding their aided performance. DESIGN: A factorial research design was used to obtain the PI function and aided performance...
October 13, 2016: Ear and Hearing
https://www.readbyqxmd.com/read/27718221/auditory-toxicity-in-late-preterm-and-term-neonates-with-severe-jaundice
#13
Sanjiv B Amin, Satish Saluja, Arvind Saili, Nirupama Laroia, Mark Orlando, Hongyue Wang, Asha Agarwal
AIM: Jaundice may cause auditory toxicity (auditory neuropathy and hearing loss). However, total serum bilirubin (TSB) does not discriminate neonates at risk for auditory toxicity. We compared TSB, bilirubin:albumin molar ratio (BAMR), and unbound bilirubin for their association with auditory toxicity in neonates with severe jaundice (TSB ≥342μmol/L, or that met exchange transfusion). METHOD: Neonates greater or equal to 34 weeks gestational age with severe jaundice during the first 2 postnatal weeks were eligible for prospective cohort study, unless they had craniofacial malformations, chromosomal disorders, toxoplasmosis, other infections, rubella, cytomegalovirus, herpes simplex infections, surgery, or family history of congenital deafness...
October 8, 2016: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/27688594/the-p1-biomarker-for-assessing-cortical-maturation-in-pediatric-hearing-loss-a-review
#14
Anu Sharma, Hannah Glick, Emily Deeves, Erin Duncan
We review evidence for a high degree of neuroplasticity of the central auditory pathways in early childhood, citing evidence of studies of the P1 and N1 cortical auditory evoked potentials in congenitally deaf children receiving cochlear implants at different ages during childhood, children with auditory neuropathy spectrum disorder and children with hearing loss and comorbid multiple disabilities. We discuss neuroplasticity, including cortico-cortical de-coupling and cross-modal re-organization that occurs in deafness...
December 2015: Otorinolaringologia
https://www.readbyqxmd.com/read/27666974/photobiomodulation-by-laser-therapy-rescued-auditory-neuropathy-induced-by-ouabain
#15
Min Young Lee, Seung-Hyun Bae, So-Young Chang, Jae-Hun Lee, Se-Hyung Kim, Jin-Chul Ahn, Phil-Sang Chung, Wesley Moy, Jae Yun Jung
Auditory neuropathy is a hearing disorder caused by impaired auditory nerve function. The lack of information about the pathophysiology of this disease limits early diagnosis and further treatment. Laser therapy is a novel approach to enhance nerve growth or induce axonal regeneration. We induced auditory neural degeneration sparing the sensory epithelium with local ouabain application in an animal model and observed the rescue effect of photobiomodulation (PBM), showing recovered auditory function and favorable histologic outcome...
October 28, 2016: Neuroscience Letters
https://www.readbyqxmd.com/read/27658576/autosomal-dominant-auditory-neuropathy-and-variant-diaph3-c-173c-t
#16
Ana Sánchez-Martínez, José I Benito-Orejas, Juan J Tellería-Orriols, María J Alonso-Ramos
No abstract text is available yet for this article.
September 19, 2016: Acta Otorrinolaringológica Española
https://www.readbyqxmd.com/read/27652356/a-novel-missense-mutation-in-the-c2c-domain-of-otoferlin-causes-profound-hearing-impairment-in-an-omani-family-with-auditory-neuropathy
#17
Nadia M Al-Wardy, Mohammed N Al-Kindi, Mazin J Al-Khabouri, Yahya Tamimi, Guy Van Camp
OBJECTIVES: To identify genetic defects in an Omani family diagnosed with deafness.  METHODS: A cross-sectional association study was conducted at the Department of Biochemistry, College of Medicine and Health Sciences, Sultan Qaboos University, Al-Khoud, Oman and the Centre of Medical Genetics, University of Antwerp, Antwerp, Belgium between August 2010 and September 2014. Microsatellites markers for nine non-syndromic genes were used to genotype the defective locus using the extracted DNA from family members...
October 2016: Saudi Medical Journal
https://www.readbyqxmd.com/read/27643807/muscle-spindle-alterations-precede-onset-of-sensorimotor-deficits-in-charcot-marie-tooth-type-2e
#18
E Villalón, M R Jones, C Sibigtroth, S J Zino, J M Dale, D S Landayan, H Shen, D D W Cornelison, M L Garcia
Charcot-Marie-Tooth (CMT) is the most common inherited peripheral neuropathy, affecting approximately 2.8 million people. The CMT leads to distal neuropathy that is characterized by reduced motor nerve conduction velocity, ataxia, muscle atrophy and sensory loss. We generated a mouse model of CMT type 2E (CMT2E) expressing human neurofilament light E396K (hNF-L(E396K) ), which develops decreased motor nerve conduction velocity, ataxia and muscle atrophy by 4 months of age. Symptomatic hNF-L(E396K) mice developed phenotypes that were consistent with proprioceptive sensory defects as well as reduced sensitivity to mechanical stimulation, while thermal sensitivity and auditory brainstem responses were unaltered...
September 19, 2016: Genes, Brain, and Behavior
https://www.readbyqxmd.com/read/27630546/persistent-thalamic-sound-processing-despite-profound-cochlear-denervation
#19
Anna R Chambers, Juan J Salazar, Daniel B Polley
Neurons at higher stages of sensory processing can partially compensate for a sudden drop in peripheral input through a homeostatic plasticity process that increases the gain on weak afferent inputs. Even after a profound unilateral auditory neuropathy where >95% of afferent synapses between auditory nerve fibers and inner hair cells have been eliminated with ouabain, central gain can restore cortical processing and perceptual detection of basic sounds delivered to the denervated ear. In this model of profound auditory neuropathy, auditory cortex (ACtx) processing and perception recover despite the absence of an auditory brainstem response (ABR) or brainstem acoustic reflexes, and only a partial recovery of sound processing at the level of the inferior colliculus (IC), an auditory midbrain nucleus...
2016: Frontiers in Neural Circuits
https://www.readbyqxmd.com/read/27621663/identification-of-a-novel-pathogenic-otof-variant-causative-of-nonsyndromic-hearing-loss-with-high-frequency-in-the-ashkenazi-jewish-population
#20
Anastasia M Fedick, Chaim Jalas, Ananya Swaroop, Eric E Smouha, Bryn D Webb
Mutations in the OTOF gene have previously been shown to cause nonsyndromic prelingual deafness (DFNB9, OMIM 601071) as well as auditory neuropathy/dys-synchrony. In this study, the OTOF NM_194248.2 c.5332G>T, p.Val1778Phe variant was identified in a large Ashkenazi Jewish family as the causative variant in four siblings with hearing loss. Our analysis reveals a carrier frequency of the OTOF c.5332G>T, p.Val1778Phe variant of 1.27% in the Ashkenazi Jewish population, suggesting that this variant may be a significant contributor to nonsyndromic sensorineural hearing loss and should be considered for inclusion in targeted hearing loss panels for this population...
2016: Application of Clinical Genetics
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