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Endoplasmic Reticulum Stress As Target for Treatment of Hearing Loss
REVIEW ARTICLE Endoplasmic reticulum stress as target for treatment of hearing loss Yanfei WANG, Zhigang XU* Shandong Provincial Key Laboratory of Animal Cell and Developmental Biology, School of Life Sciences, Shandong University, Qingdao, Shandong 266237, China *Correspondence: [email protected] https://doi.org/10.37175/stemedicine.v1i3.21 ABSTRACT The endoplasmic reticulum (ER) plays pivotal roles in coordinating protein biosynthesis and processing. Under ER stress, when excessive misfolded or unfolded proteins are accumulated in the ER, the unfolded protein response (UPR) is activated. The UPR blocks global protein synthesis while activates chaperone expression, eventually leading to the alleviation of ER stress. However, prolonged UPR induces cell death. ER stress has been associated with various types of diseases. Recently, increasing evidences suggest that ER stress and UPR are also involved in hearing loss. In the present review, we will discuss the role of ER stress in hereditary hearing loss as well as acquired hearing loss. Moreover, we will discuss the emerging ER stress-based treatment of hearing loss. Further investigations are warranted to understand the mechanisms in detail how ER stress contributes to hearing loss, which will help us develop better ER stress-related treatments. Keywords: ER stress · Unfolded protein response (UPR) · Hearing loss · Inner ear · Cochlea 1. Introduction far, which are mediated by ER stress sensors that reside The endoplasmic reticulum (ER) is a highly dynamic on the ER membranes, namely the inositol-requiring organelle in eukaryotic cells, playing important roles in enzyme 1α (IRE1α), the PKR-like ER kinase (PERK), protein synthesis, processing, folding, and transportation, and the activating transcription factor 6α (ATF6α) as well as lipid synthesis and calcium homeostasis. -
Screening Guide for Usher Syndrome
Screening Guide for Usher Syndrome Florida Outreach Project for Children and Young Adults Who Are Deaf-Blind Bureau of Exceptional Education and Student Services Florida Department of Education 2012 This publication was produced through the Bureau of Exceptional Education and Student Services (BEESS) Resource and Information Center, Division of Public Schools, Florida Department of Education, and is available online at http://www.fldoe.org/ese/pub-home.asp. For information on available resources, contact the BEESS Resource and Information Center (BRIC). BRIC website: http://www.fldoe.org/ese/clerhome.asp Bureau website: http://fldoe.org/ese/ Email: [email protected] Telephone: (850) 245-0475 Fax: (850) 245-0987 This document was developed by the Florida Instructional Materials Center for the Visually Impaired, Outreach Services for the Blind/Visually Impaired and Deaf/Hard-of-Hearing, and the Resource Materials and Technology Center for the Deaf/Hard-of-Hearing, special projects funded by the Florida Department of Education, Division of Public Schools, BEESS, through federal assistance under the Individuals with Disabilities Education Act (IDEA), Part B, in conjunction with the Florida Outreach Project for Children and Young Adults Who Are Deaf- Blind, H326C990032, which is funded by the Office of Special Education Programs, U.S. Department of Education. Information contained within this publication does not necessarily reflect the views of the U.S. Department of Education. Edited by: Susan Lascek, Helen Keller National Center Emily Taylor-Snell, Florida Project for Children and Young Adults Who Are Deaf-Blind Dawn Saunders, Florida Department of Education Leanne Grillot, Florida Department of Education Adapted with permission from the Nebraska Usher Syndrome Screening Project (2002) Copyright State of Florida Department of State 2012 Authorization for reproduction is hereby granted to the state system of public education consistent with section 1006.03(2), Florida Statutes. -
Mutations in the WFS1 Gene Are a Frequent Cause of Autosomal Dominant Nonsyndromic Low-Frequency Hearing Loss in Japanese
J Hum Genet (2007) 52:510–515 DOI 10.1007/s10038-007-0144-3 ORIGINAL ARTICLE Mutations in the WFS1 gene are a frequent cause of autosomal dominant nonsyndromic low-frequency hearing loss in Japanese Hisakuni Fukuoka Æ Yukihiko Kanda Æ Shuji Ohta Æ Shin-ichi Usami Received: 14 January 2007 / Accepted: 27 March 2007 / Published online: 11 May 2007 Ó The Japan Society of Human Genetics and Springer 2007 Abstract Mutations in WFS1 are reported to be respon- sites are likely to be mutational hot spots. All three families sible for two conditions with distinct phenotypes; DFNA6/ with WFS1 mutations in this study showed a similar phe- 14/38 and autosomal recessive Wolfram syndrome. They notype, LFSNHL, as in previous reports. In this study, one- differ in their associated symptoms and inheritance mode, third (three out of nine) autosomal dominant LFSNHL and although their most common clinical symptom is families had mutations in the WFS1 gene, indicating that in hearing loss, it is of different types. While DNFA6/14/38 is non-syndromic hearing loss WFS1 is restrictively and characterized by low frequency sensorineural hearing loss commonly found within autosomal dominant LFSNHL (LFSNHL), in contrast, Wolfram syndrome is associated families. with various hearing severities ranging from normal to profound hearing loss that is dissimilar to LFSNHL (Pen- Keywords WSF1 Á Low-frequency hearing loss Á nings et al. 2002). To confirm whether within non-syn- DFNA6/14/38 dromic hearing loss patients WFS1 mutations are found restrictively in patients with LFSNHL and to summarize the mutation spectrum of WFS1 found in Japanese, we Introduction screened 206 Japanese autosomal dominant and 64 auto- somal recessive (sporadic) non-syndromic hearing loss WFS1 is a gene encoding an 890 amino-acid glycoprotein probands with various severities of hearing loss. -
Fumihiko Urano: Wolfram Syndrome: Diagnosis, Management, And
Curr Diab Rep (2016) 16:6 DOI 10.1007/s11892-015-0702-6 OTHER FORMS OF DIABETES (JJ NOLAN, SECTION EDITOR) Wolfram Syndrome: Diagnosis, Management, and Treatment Fumihiko Urano1,2 # The Author(s) 2016. This article is published with open access at Springerlink.com Abstract Wolfram syndrome is a rare genetic disorder char- diabetes insipidus, optic nerve atrophy, hearing loss, and acterized by juvenile-onset diabetes mellitus, diabetes neurodegeneration. It was first reported in 1938 by Wol- insipidus, optic nerve atrophy, hearing loss, and neurodegen- fram and Wagener who found four of eight siblings with eration. Although there are currently no effective treatments juvenile diabetes mellitus and optic nerve atrophy [1]. that can delay or reverse the progression of Wolfram syn- Wolfram syndrome is considered a rare disease and esti- drome, the use of careful clinical monitoring and supportive mated to afflict about 1 in 160,000–770,000 [2, 3]. In care can help relieve the suffering of patients and improve 1995, Barrett, Bundey, and Macleod described detailed their quality of life. The prognosis of this syndrome is current- clinical features of 45 patients with Wolfram syndrome ly poor, and many patients die prematurely with severe neu- and determined the best available diagnostic criteria for rological disabilities, raising the urgency for developing novel the disease [3]. According to the draft International Clas- treatments for Wolfram syndrome. In this article, we describe sification of Diseases (ICD-11), Wolfram Syndrome is natural history and etiology, provide recommendations for categorized as a rare specified diabetes mellitus (subcate- diagnosis and clinical management, and introduce new treat- gory 5A16.1, Wolfram Syndrome). -
Definitions and Background
1 Definitions and Background Tinnitus is a surprisingly complex subject. Numer- ears.” And, in fact, the word “tinnitus” is derived ous books would be required to adequately cover the from the Latin word tinniere, which means “to current body of knowledge. The present handbook ring.” Patients report many different sounds—not focuses on describing procedures for providing just ringing—when describing the sound of their clinical services for tinnitus using the methodology tinnitus, as we discuss later in this chapter. of progressive tinnitus management (PTM). In this opening chapter we establish common ground with respect to terminology and contextual Transient Ear Noise information. Relevant definitions are provided, many of which are operational due to lack of consensus It seems that almost everyone experiences “tran- in the field. Additional background information sient ear noise,” which typically is described as a includes brief descriptions of epidemiologic data, sudden whistling sound accompanied by the per- patient data, and conditions related to reduced tol- ception of hearing loss (Kiang, Moxon, & Levine, erance (hypersensitivity) to sound. 1970). No systematic studies have been published to date describing the prevalence and properties of transient ear noise; thus, anything known about Basic Concepts and Terminology this phenomenon is anecdotal. The transient auditory event is unilateral and seems to occur completely at random without any- Tinnitus is the experience of perceiving sound that thing precipitating the sudden onset of symptoms. is not produced by a source outside of the body. The Often the ear feels blocked during the episode. The “phantom” auditory perception is generated some- symptoms generally dissipate within a period of where in the auditory pathways or in the head or about a minute. -
The ENT Manifestation of Wolfram Syndrome (DIDMOAD): a Case Report
Journal of Clinical Science & Translational Medicine MEDWIN PUBLISHERS Committed to Create Value for Researchers The ENT Manifestation of Wolfram Syndrome (DIDMOAD): A Case Report Gliti MA1,3*, Allouche I1,3, Razika B2,3, Anas BM2,3 and Houssyni LE2,3 Case Report 1Department of Otorhinolaryngology, Head and Neck Surgery, Ibn Sina University Hospital, Volume 3 Issue 1 Morocco Received Date: May 15, 2021 2Department of Otorhinolaryngology, Head and Neck Surgery, Ibn Sina University Hospital, Published Date: June 23, 2021 Morocco 3Faculty of Medicine and Pharmacy of Rabat, Mohammed V University, Morocco *Corresponding author: Mohamed Ali Gliti, Department of Otorhinolaryngology, Head and Neck Surgery, Ibn Sina University Hospital, Rabat, Morocco, Tel: 0633725750; Email: [email protected] Abstract Objective: Describe the clinical and therapeutic aspects of WOLFRAM syndrome (DIDMOAD) presenting with deafness. Materials and Methods: We report the case of a 21-year-old man who presented with a WOLFRAM syndrome associated with a tympanic perforation. Clinical Case: This is a 21-year-old R.Y from a consanguineous marriage (first cousin 1st degree) Due to the association syndrome. of symptoms (type 1 diabetes, urinary and ophthalmologic signs), genetic counseling was sought to confirm WOLFRAM Conclusion: vigilant in referring patients with hearing loss for an ophthalmic examination. Since sensorineural hearing loss can be the first symptom of SW, audiologists, and otolaryngologists should be Keywords: WOLFRAM Syndrome; Sensorineural Hearing Loss; Tympanic Perforation; Tympanoplasty Abbreviations: SW: Wolfram Syndrome. feature. For this reason, the same Wolfram syndrome (SW) Introduction (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness)is defined in with the literaturethe term [2-7].Wolfram It is syndromea recessive DIDMOAD inherited disease, the pathogenesis of which is still poorly understood Wagener, a clinical feature characterized by diabetes [8-10]. -
Noise-Induced Cochlear Neuronal Degeneration and Its Role in Hyperacusis- and Tinnitus-Like Behavior
Noise-Induced Cochlear Neuronal Degeneration and Its Role in Hyperacusis- and Tinnitus-Like Behavior by Ann E. Hickox B.A. French Arizona State University, 2006 MSc Speech and Hearing Sciences University College London, 2007 SUBMITTED TO THE HARVARD-MIT DIVISION OF HEALTH SCIENCES AND TECHNOLOGY IN PARTIAL FULFILLMENT OF THE REQUIREMENTS FOR THE DEGREE OF DOCTOR OF PHILOSOPHY IN SPEECH AND HEARING BIOSCIENCE AND TECHNOLOGY AT THE MASSACHUSETTS INSTITUTE OF TECHNOLOGY FEBRUARY 2013 @2013 Ann E. Hickox. All rights reserved The author hereby grants to MIT permission to reproduce and to distribute publicly paper and electronic copies of this thesis document in whole or in part in any medium now known or hereafter created. Signature of Author: Ann E. Hickox Harvard-MIT Division of e lthSciences and Technology f/ / I / January 2, 2013 Certified by: M. Charles Liberman, Ph.D. Thesis Supervisor Director, Eaton-Peabody Laboratory, Massachusetts Eye & Ear Infirmary Harold F. Schuknecht Professor of Otology and Laryngology, Harvard Medical School Accepted by Emery Brown, MD, PhD Director, Harvard-MIT Division of Health Sciences and Technology Professor of Computational Neuroscience and Health Sciences and Technology 1 2 Noise-Induced Cochlear Neuronal Degeneration and Its Role in Hyperacusis- and Tinnitus-Like Behavior by Ann E. Hickox Submitted to the Harvard-MIT Division of Health Sciences and Technology on January 2, 2013 in partial fulfillment of the requirements for the Degree of Doctor of Philosophy in Speech and Hearing Bioscience and Technology Abstract Perceptual abnormalities such as hyperacusis and tinnitus often occur following acoustic overexposure. Although such exposure can also result in permanent threshold elevation, some individuals with noise-induced hyperacusis or tinnitus show clinically normal thresholds. -
BMC Ear, Nose and Throat Disorders Biomed Central
BMC Ear, Nose and Throat Disorders BioMed Central Case report Open Access Acute unilateral hearing loss as an unusual presentation of cholesteatoma Daniel Thio*1, Shahzada K Ahmed2 and Richard C Bickerton3 Address: 1Department of Otorhinolaryngology, South Warwickshire General Hospitals NHS Trust Warwick CV34 5BW UK, 2Department of Otorhinolaryngology, South Warwickshire General Hospitals NHS Trust Warwick CV34 5BW UK and 3Department of Otorhinolaryngology, South Warwickshire General Hospitals NHS Trust Warwick CV34 5BW UK Email: Daniel Thio* - [email protected]; Shahzada K Ahmed - [email protected]; Richard C Bickerton - [email protected] * Corresponding author Published: 18 September 2005 Received: 10 July 2005 Accepted: 18 September 2005 BMC Ear, Nose and Throat Disorders 2005, 5:9 doi:10.1186/1472-6815-5-9 This article is available from: http://www.biomedcentral.com/1472-6815/5/9 © 2005 Thio et al; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Abstract Background: Cholesteatomas are epithelial cysts that contain desquamated keratin. Patients commonly present with progressive hearing loss and a chronically discharging ear. We report an unusual presentation of the disease with an acute hearing loss suffered immediately after prolonged use of a pneumatic drill. Case presentation: A 41 year old man with no previous history of ear problems presented with a sudden loss of hearing in his right ear immediately following the prolonged use of a pneumatic drill on concrete. -
Cholesteatoma Handout
Cholesteatoma Handout A cholesteatoma is a skin growth that occurs in an abnormal location, usually in the middle ear space behind the eardrum. It often arises from repeated or chronic infection, which causes an in-growth of the skin of the eardrum. Cholesteatomas often take the form of a cyst or pouch that sheds layers of old skin that build up inside the ear. Over time, the cholesteatoma can increase in size and destroy the surrounding delicate bones of the middle ear. Hearing loss, dizziness, and facial muscle paralysis are rare but can result from continued cholesteatoma growth. What are the symptoms? Initially, the ear may drain fluid, sometimes with a foul odor. As the cholesteatoma pouch or sac enlarges, it can cause a full feeling or pressure in the ear, along with hearing loss. Dizziness, or muscle weakness on one side of the face can also occur. Is it dangerous? Ear cholesteatomas can be dangerous and should never be ignored. Bone erosion can cause the infection to spread into the surrounding areas, including the inner ear and brain. If untreated, deafness, brain abscess, meningitis, and rarely death can occur. What treatment can be provided? Initial treatment may consist of a careful cleaning of the ear, antibiotics, and ear drops. Therapy aims to stop drainage in the ear by controlling the infection. The extent or growth characteristics of a cholesteatoma must then be evaluated. Cholesteatomas usually require surgical treatment to protect the patient from serious complications. Hearing and balance tests and CT scans of the ear may be necessary. These tests are performed to determine the hearing level remaining in the ear and the extent of destruction the cholesteatoma has caused. -
ICD-9 Diseases of the Ear and Mastoid Process 380-389
DISEASES OF THE EAR AND MASTOID PROCESS (380-389) 380 Disorders of external ear 380.0 Perichondritis of pinna Perichondritis of auricle 380.00 Perichondritis of pinna, unspecified 380.01 Acute perichondritis of pinna 380.02 Chronic perichondritis of pinna 380.1 Infective otitis externa 380.10 Infective otitis externa, unspecified Otitis externa (acute): NOS circumscribed diffuse hemorrhagica infective NOS 380.11 Acute infection of pinna Excludes: furuncular otitis externa (680.0) 380.12 Acute swimmers' ear Beach ear Tank ear 380.13 Other acute infections of external ear Code first underlying disease, as: erysipelas (035) impetigo (684) seborrheic dermatitis (690.10-690.18) Excludes: herpes simplex (054.73) herpes zoster (053.71) 380.14 Malignant otitis externa 380.15 Chronic mycotic otitis externa Code first underlying disease, as: aspergillosis (117.3) otomycosis NOS (111.9) Excludes: candidal otitis externa (112.82) 380.16 Other chronic infective otitis externa Chronic infective otitis externa NOS 380.2 Other otitis externa 380.21 Cholesteatoma of external ear Keratosis obturans of external ear (canal) Excludes: cholesteatoma NOS (385.30-385.35) postmastoidectomy (383.32) 380.22 Other acute otitis externa Excerpted from “Dtab04.RTF” downloaded from website regarding ICD-9-CM 1 of 11 Acute otitis externa: actinic chemical contact eczematoid reactive 380.23 Other chronic otitis externa Chronic otitis externa NOS 380.3 Noninfectious disorders of pinna 380.30 Disorder of pinna, unspecified 380.31 Hematoma of auricle or pinna 380.32 Acquired -
Bedside Neuro-Otological Examination and Interpretation of Commonly
J Neurol Neurosurg Psychiatry: first published as 10.1136/jnnp.2004.054478 on 24 November 2004. Downloaded from BEDSIDE NEURO-OTOLOGICAL EXAMINATION AND INTERPRETATION iv32 OF COMMONLY USED INVESTIGATIONS RDavies J Neurol Neurosurg Psychiatry 2004;75(Suppl IV):iv32–iv44. doi: 10.1136/jnnp.2004.054478 he assessment of the patient with a neuro-otological problem is not a complex task if approached in a logical manner. It is best addressed by taking a comprehensive history, by a Tphysical examination that is directed towards detecting abnormalities of eye movements and abnormalities of gait, and also towards identifying any associated otological or neurological problems. This examination needs to be mindful of the factors that can compromise the value of the signs elicited, and the range of investigative techniques available. The majority of patients that present with neuro-otological symptoms do not have a space occupying lesion and the over reliance on imaging techniques is likely to miss more common conditions, such as benign paroxysmal positional vertigo (BPPV), or the failure to compensate following an acute unilateral labyrinthine event. The role of the neuro-otologist is to identify the site of the lesion, gather information that may lead to an aetiological diagnosis, and from there, to formulate a management plan. c BACKGROUND Balance is maintained through the integration at the brainstem level of information from the vestibular end organs, and the visual and proprioceptive sensory modalities. This processing takes place in the vestibular nuclei, with modulating influences from higher centres including the cerebellum, the extrapyramidal system, the cerebral cortex, and the contiguous reticular formation (fig 1). -
Tinnitus & Hyperacusis
REFERENCE Tinnitus & Hyperacusis GlossarY The American Tinnitus Association (ATA) is pleased to provide our readers with a glossary of terms pertaining to tinnitus and hyperacusis. It has been adapted with permission from a document published with the Progressive Tinnitus Management program developed by researchers and clinicians at the Veterans Health Administration. The ATA Tinnitus & Hyperacusis Glossary was edited by members of the Tinnitus Today Editorial Advisory Panel. The terminology used to describe any condition is of vital importance to diagnosis and treatment of the condition. Without a commonly understood set of terms, we could not effectively communicate a diagnosis, direct treatment for conditions, or expect patients to understand and follow those treatments accurately. www.ATA.org TINNITUS TODay WIntER 2017 33 REFERENCE Acceptance and Commitment aminoglycoside antibiotics: Any by neural networks that respond to Therapy (ACT): A psychotherapeutic of a group of antibiotics derived from different levels of sound. approach similar to Cognitive Behav- various species of Streptomyces that auditory hallucinations: Usually ioral Therapy (CBT), and sometimes is inhibit bacterial protein synthesis and perceived as voices or music (and referenced as part of the third wave of are active against gram-negative bac- sometimes as environmental sounds, CBT approaches. ACT involves mind- teria, in particular. Aminoglycosides e.g., a barking dog), and have been fulness, which is aimed at reducing include streptomycin, gentamicin, studied primarily in the context of psychological distress, depressive amikacin, kanamycin, tobramycin, and mental health. Some individuals who symptoms, and anxiety by focusing on neomycin, among others. All can be experience auditory hallucinations do the present moment.