keyword
MENU ▼
Read by QxMD icon Read
search

Progressive hearing loss

keyword
https://www.readbyqxmd.com/read/27931523/a-blue-middle-ear-mass-cholesterol-granuloma-mimicking-a-glomus-tumor-and-endolymphatic-sac-tumor
#1
Clara Olcott, Barry Strasnick
Cholesterol granuloma (CG) is the most common benign lesion of the petrous apex, however, it can grow significantly large and become destructive causing a diagnostic dilemma. This case presents a 25-year-old female with 2-year history of left-sided progressive and profound hearing loss, a transient left-sided facial paralysis and cranial nerve 10 palsy who presented with a blue middle ear mass. Her diagnosis did not become apparent until direct visualization intraoperatively. The objective of this case study is to highlight the destructive capabilities of CG and the importance to keep it in the differential diagnosis of a large, erosive, expansile skull base lesion in order to avoid overly aggressive resection or other unnecessary treatment...
January 2017: American Journal of Otolaryngology
https://www.readbyqxmd.com/read/27929596/primary-solitary-intralabyrinthine-schwannoma-a-report-of-7-cases-and-a-review-of-the-literature
#2
Avi Shupak, Yehuda Holdstein, Margalit Kaminer, Itzhak Braverman
Intralabyrinthine schwannomas (ILSs) are uncommon benign tumors that originate in the Schwann cell sheath of the intralabyrinthine distal branches of the vestibulocochlear nerve. They have no initial involvement in the internal auditory canal, although that might develop later. These lesions can arise inside the cochlea, originate in the vestibule or, in rare cases, develop in the semicircular canals. From these sites, spread might take place via the anatomic connections between the perilymphatic spaces in the scala vestibuli and the anterior vestibule...
December 2016: Ear, Nose, & Throat Journal
https://www.readbyqxmd.com/read/27928778/previously-unreported-biallelic-mutation-in-dnajc19-are-sensorineural-hearing-loss-and-basal-ganglia-lesions-additional-features-of-dilated-cardiomyopathy-and-ataxia-dcma-syndrome
#3
Sema Kalkan Ucar, Johannes A Mayr, René G Feichtinger, Ebru Canda, Mahmut Çoker, Saskia B Wortmann
BACKGROUND: Dilated cardiomyopathy (DCM), non-progressive cerebellar ataxia (A), testicular dysgenesis, growth failure, and 3-methylglutaconic aciduria are the hallmarks of DNAJC19 defect (or DCMA syndrome) due to biallelic mutations in DNAJC19. To date DCMA syndrome has been reported in 19 patients from Canada and in two Finnish siblings. The underlying pathomechanism is unknown; however, DNAJC19 is presumed to be involved in mitochondrial membrane related processes (e.g., protein import and cardiolipin remodeling)...
December 8, 2016: JIMD Reports
https://www.readbyqxmd.com/read/27913314/audiologic-characteristics-in-a-sample-of-recently-separated-military-veterans-the-noise-outcomes-in-servicemembers-epidemiology-study-noise-study
#4
J S Gordon, S E Griest, E J Thielman, K C Carlson, W J Helt, M S Lewis, C Blankenship, D Austin, S M Theodoroff, J A Henry
Military Service Members are often exposed to high levels of occupational noise, solvents, and other exposures that can be damaging to the auditory system. Little is known about hearing loss and how it progresses in Veterans following military service. This epidemiology study is designed to evaluate and monitor a cohort of Veterans for 20 years or more to determine how hearing loss changes over time and how those changes are related to noise exposure and other ototoxic exposures encountered during military service...
November 29, 2016: Hearing Research
https://www.readbyqxmd.com/read/27913285/autosomal-recessive-spinocerebellar-ataxia-20-report-of-a-new-patient-and-review-of-literature
#5
Anju Shukla, Priyanka Upadhyai, Jhanvi Shah, K Neethukrishna, Stephanie Bielas, K M Girisha
Inherited ataxias are an extremely heterogeneous group of disorders. Autosomal recessive spinocerebellar ataxia 20 (SCAR20) is a recently described disorder characterized by intellectual disability, ataxia, coarse facial features, progressive loss of Purkinje cells in the cerebellum and often hearing loss and skeletal abnormalities. Mutations in the gene SNX14, which plays an important role in autophagy, have been found to cause SCAR20. The unique clinical findings of progressive coarsening of facial features makes the clinical phenotype recognizable among the various hereditary ataxias...
November 29, 2016: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/27913098/succinyl-coa-synthetase-sucla2-deficiency-in-two-siblings-with-impaired-activity-of-other-mitochondrial-oxidative-enzymes-in-skeletal-muscle-without-mitochondrial-dna-depletion
#6
Xiaoping Huang, Jirair K Bedoyan, Didem Demirbas, David J Harris, Alexander Miron, Simone Edelheit, George Grahame, Suzanne D DeBrosse, Lee-Jun Wong, Charles L Hoppel, Douglas S Kerr, Irina Anselm, Gerard T Berry
Mutations in SUCLA2 result in succinyl-CoA ligase (ATP-forming) or succinyl-CoA synthetase (ADP-forming) (A-SCS) deficiency, a mitochondrial tricarboxylic acid cycle disorder. The phenotype associated with this gene defect is largely encephalomyopathy. We describe two siblings compound heterozygous for SUCLA2 mutations, c.985A>G (p.M329V) and c.920C>T (p.A307V), with parents confirmed as carriers of each mutation. We developed a new LC-MS/MS based enzyme assay to demonstrate the decreased SCS activity in the siblings with this unique genotype...
November 12, 2016: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/27910108/a-day-in-the-life-of-a-m%C3%A3-ni%C3%A3-re-s-patient-understanding-the-lived-experiences-and-mental-health-impacts-of-m%C3%A3-ni%C3%A3-re-s-disease
#7
Sarah L Bell, Jessica Tyrrell, Cassandra Phoenix
Concepts of social practice are increasingly being used to understand experiences of everyday life, particularly in relation to consumption and healthy lifestyles. This article builds on this in the context of lives disrupted and reshaped by chronic illness. It uses social practice theory to examine the lived experiences of individuals with Ménière's disease; a long-term progressive vestibular disorder, defined by episodes of severe and debilitating vertigo, aural fullness, tinnitus and sensorineural hearing loss...
December 2, 2016: Sociology of Health & Illness
https://www.readbyqxmd.com/read/27905128/ehlers-danlos-syndrome-related-to-fkbp14-mutations-detailed-cutaneous-phenotype
#8
A C Bursztejn, M Baumann, D Lipsker
In 2012, a new Ehlers-Danlos (ED) variant, characterized by severe progressive kyphoscoliosis, neonatal myopathy and hearing loss, with normal urinary lysylpyridinoline to hydroxylysylpyridinoline ratio and most often a recurrent homozygous mutation in the FKBP14 gene, was reported. Because one of the major affected tissues in ED syndrome is the skin, recognition of the cutaneous features of this newly recognized EDS variant is important. We describe the cutaneous phenotype of an adolescent girl harbouring the recurrent homozygous FKBP14 mutation...
November 30, 2016: Clinical and Experimental Dermatology
https://www.readbyqxmd.com/read/27891585/novel-mutations-in-kars-cause-hypertrophic-cardiomyopathy-and-combined-mitochondrial-respiratory-chain-defect
#9
Daniela Verrigni, Daria Diodato, Michela Di Nottia, Alessandra Torraco, Emanuele Bellacchio, Teresa Rizza, Giulia Tozzi, Margherita Verardo, Fiorella Piemonte, Giorgio Tasca, Adele D'Amico, Enrico Bertini, Rosalba Carrozzo
Mutations in KARS, which encodes for both mitochondrial and cytoplasmic lysyl-tRNA synthethase, have been so far associated with three different phenotypes: the recessive form of Charcot Mary-Tooth polyneuropathy, the autosomal recessive non-syndromic hearing loss and the last recently described condition related to congenital visual impairment and progressive microcephaly. Here we report the case of a 14-years-old-girl with severe cardiomyopathy associated to mild psychomotor delay and mild myopathy; moreover, a diffuse reduction of cytochrome C oxidase (COX, complex IV) and a combined enzymatic defect of complex I (CI) and IV (CIV) was evident in muscle biopsy...
November 28, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/27890673/functional-validation-of-abhd12-mutations-in-the-neurodegenerative-disease-pharc
#10
Angèle Tingaud-Sequeira, Demetrio Raldúa, Julie Lavie, Guilaine Mathieu, Magali Bordier, Anja Knoll-Gellida, Pierre Rambeau, Isabelle Coupry, Michèle André, Eva Malm, Claes Möller, Sten Andreasson, Nanna D Rendtorff, Lisbeth Tranebjærg, Michel Koenig, Didier Lacombe, Cyril Goizet, Patrick J Babin
ABHD12 mutations have been linked to neurodegenerative PHARC (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and early-onset cataract), a rare, progressive, autosomal, recessive disease. Although ABHD12 is suspected to play a role in the lysophosphatidylserine and/or endocannabinoid pathways, its precise functional role(s) leading to PHARC disease had not previously been characterized. Cell and zebrafish models were designed to demonstrate the causal link between an identified new missense mutation p...
November 23, 2016: Neurobiology of Disease
https://www.readbyqxmd.com/read/27886419/functional-characterization-of-a-novel-loss-of-function-mutation-of-prps1-related-to-early-onset-progressive-nonsyndromic-hearing-loss-in-koreans-dfnx1-potential-implications-on-future-therapeutic-intervention
#11
So Young Kim, Ah Reum Kim, Nayoung K D Kim, Chung Lee, Jin Hee Han, Min Young Kim, Eun-Hee Jeon, Woong-Yang Park, Rahul Mittal, Denise Yan, Xue Zhong Liu, Byung Yoon Choi
BACKGROUND: The symptoms of phosphoribosyl pyrophosphate synthetase 1 (PRPS1) deficiency diseases have been reported to be alleviated by medication. Herein, we report biochemical data to favor PRPS1 deficiency-related hearing loss as a potential target for pharmaceutical treatment. METHODS: We recruited 42 probands from subjects under the age of 15 years with a moderate degree of nonsyndromic autosomal-recessive or sporadic sensorineural hearing loss (SNHL) in at least one side...
November 25, 2016: Journal of Gene Medicine
https://www.readbyqxmd.com/read/27882946/er-stress-inhibitor-attenuates-hearing-loss-and-hair-cell-death-in-cdh23-erl-erl-mutant-mice
#12
Juan Hu, Bo Li, Luke Apisa, Heping Yu, Shami Entenman, Min Xu, Ruben Stepanyan, Bo-Jhih Guan, Ulrich Müller, Maria Hatzoglou, Qing Yin Zheng
Hearing loss is one of the most common sensory impairments in humans. Mouse mutant models helped us to better understand the mechanisms of hearing loss. Recently, we have discovered that the erlong (erl) mutation of the cadherin23 (Cdh23) gene leads to hearing loss due to hair cell apoptosis. In this study, we aimed to reveal the molecular pathways upstream to apoptosis in hair cells to exploit more effective therapeutics than an anti-apoptosis strategy. Our results suggest that endoplasmic reticulum (ER) stress is the earliest molecular event leading to the apoptosis of hair cells and hearing loss in erl mice...
November 24, 2016: Cell Death & Disease
https://www.readbyqxmd.com/read/27878588/the-impact-of-erdosteine-on-cisplatin-induced-ototoxicity-a-proteomics-approach
#13
Sofia Waissbluth, Delphine Garnier, Olubunmi V Akinpelu, Pezhman Salehi, Sam J Daniel
Cisplatin is a commonly used chemotherapeutic agent and causes serious side effects, including progressive and irreversible hearing loss. No treatment is currently available for cisplatin-induced ototoxicity. We have previously demonstrated that erdosteine, a potent antioxidant, partially protected the cochlea against cisplatin toxicity in vivo. The aims of this study were to (1) evaluate the protein profiles of the cochlea following cisplatin administration and (2) evaluate the impact of erdosteine on the protein profile using a proteomics-based approach...
November 23, 2016: European Archives of Oto-rhino-laryngology
https://www.readbyqxmd.com/read/27876815/variable-expressivity-and-genetic-heterogeneity-involving-dpt-and-sema3d-genes-in-autosomal-dominant-familial-meniere-s-disease
#14
Carmen Martín-Sierra, Alvaro Gallego-Martinez, Teresa Requena, Lidia Frejo, Angel Batuecas-Caletrío, Jose A Lopez-Escamez
Autosomal dominant (AD) familial Meniere's disease (FMD) is a rare disorder involving the inner ear defined by sensorineural hearing loss, tinnitus and episodic vertigo. Here, we have identified two novel and rare heterozygous variants in the SEMA3D and DPT genes segregating with the complete phenotype that have variable expressivity in two pedigrees with AD-FMD. A detailed characterization of the phenotype within each family illustrates the clinical heterogeneity in the onset and progression of the disease...
November 23, 2016: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/27876737/-the-occupational-risk-of-hearing-impairment-associated-with-cardiovascular-pathologies-in-the-subjects-engaged-in-noisy-industries
#15
V B Pankova, E A Preobrazhenskaya, I N Fedina
The objective of the present study was to analyze the structure of concomitant somatic pathology in the subjects experiencing the occupational hearing problems. The study demonstrated the increase in the frequency of concomitant chronic diseases and the prevalence of polynosological conditions with the increasing severity of hearing impairment. It was shown that cardiovascular pathologies tend to enhance the risk of hearing loss in the employees engaged in «noisy» occupations. The cause-and-effect relationships were elucidated as the contribution of the "vascular" factor to the formation of occupational pathology of the organs of hearing...
2016: Vestnik Otorinolaringologii
https://www.readbyqxmd.com/read/27862279/pet-and-mri-detection-of-early-and-progressive-neurodegeneration-in-spinocerebellar-ataxia-type-36
#16
Pablo Aguiar, Julio Pardo, Manuel Arias, Beatriz Quintáns, Montse Fernández-Prieto, Rocío Martínez-Regueiro, José-Manuel Pumar, Jesús Silva-Rodríguez, Álvaro Ruibal, María-Jesús Sobrido, Julia Cortés
BACKGROUND: The spinocerebellar ataxias (SCAs) form a clinically, genetically, and pathological heterogeneous group of autosomal-dominant degenerative diseases. In particular, SCA36 is characterized by a late-onset, slowly progressive cerebellar syndrome typically associated with sensorineural hearing loss. This study was aimed at analyzing the neurodegenerative process underlying SCA36 through fluorodeoxyglucose positron emission tomography (FDG-PET) and MRI scans. METHODS: Twenty SCA36 patients underwent a study consisting of FDG-PET and MRI scans...
November 10, 2016: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/27853020/progressive-susac-syndrome-with-bilateral-visual-loss-and-disability
#17
Morteza Entezari, Saeed Karimi, Mohammadali Feizi
Susac syndrome (SS) is a rare retinal-cochlear-cerebral disease with an unclear etiology. A 35-year-old man presented with sudden painless vision loss in the right eye and 2 months later in the left eye with hemiparesis, behavioral changes, and hearing loss. Ophthalmic examinations revealed multiple branch retinal artery occlusions (BRAOs) in both eyes. Brain magnetic resonance imaging showed inflammatory changes with multiple "punched-out" lesions in the corpus callosum which confirmed the diagnosis of SS...
September 2016: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/27852135/long-term-results-of-hearing-preservation-cochlear-implant-surgery-in-patients-with-residual-low-frequency-hearing
#18
Hideaki Moteki, Shin-Ya Nishio, Maiko Miyagawa, Keita Tsukada, Satoshi Iwasaki, Shin-Ichi Usami
CONCLUSION: Differences were found between patients with stable hearing and those with progressive hearing loss in the lower frequencies with respect to the rate of progression in the contralateral ear. It is suggested that the electric acoustic stimulation (EAS) can provide improvement in hearing ability over the long-term if residual hearing might be lost to some extent. OBJECTIVE: To evaluate the long-term threshold changes in the low frequency hearing of the implanted ear as compared with the non-implanted ear, and the hearing abilities with EAS along with the extent of residual hearing...
November 17, 2016: Acta Oto-laryngologica
https://www.readbyqxmd.com/read/27847300/a-review-of-the-progress-and-pitfalls-of-fda-policy-process-planning-a-pathway-for-pharmaceutical-interventions-for-hearing-loss-development
#19
Tanisha L Hammill
The Federal Food and Drug Administration, or FDA is generally considered a powerful gatekeeper, able to deliver or withhold life-saving cures and create or destroy economic windfalls. As the decades go by, and technologies, diseases, public health demands, and politics evolve, we can identify patterns of change, action and inter-action among some of these traditional stakeholders in the FDA's policy sphere. A careful examination of this agency's colorful history can shed light on central features of the agency's policy process, which has been quite receptive to its stakeholders and adaptive to change over the decades and, in turn, show the way for development in lanes which do not fit neatly into the current paradigms offered by the agency...
November 12, 2016: Hearing Research
https://www.readbyqxmd.com/read/27834304/relationship-between-hearing-function-and-myasthenia-gravis-a-contemporary-review
#20
Massimo Ralli, Giancarlo Altissimi, Arianna Di Stadio, Filippo Mazzei, Rosaria Turchetta, Giancarlo Cianfrone
There is increasing evidence of a connection between hearing function and myasthenia gravis (MG). Studies of the pathophysiological basis of this relationship suggest that acetylcholine receptors (AChRs) on outer hair cells (OHCs) play a central role. In patients with MG, autoantibodies against AChRs induce a progressive loss of AChRs on OHCs, decreasing their electromotility. The stapedial reflex decay test can be altered in MG patients, and can be used as an additional tool for diagnosis and monitoring. Transient evoked and distortion product otoacoustic emissions are the main diagnostic tool for monitoring OHC functionality in MG patients, and can be used to record subclinical hearing alterations before the onset of clinically evident hearing loss...
November 10, 2016: Journal of International Medical Research
keyword
keyword
22142
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"