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https://www.readbyqxmd.com/read/29457600/public-online-information-about-tinnitus-a-cross-sectional-study-of-youtube-videos
#1
Corey H Basch, Jingjing Yin, Betty Kollia, Adeyemi Adedokun, Stephanie Trusty, Felicia Yeboah, Isaac Chun-Hai Fung
Purpose: To examine the information about tinnitus contained in different video sources on YouTube. Materials and Methods: The 100 most widely viewed tinnitus videos were manually coded. Firstly, we identified the sources of upload: consumer, professional, television-based clip, and internet-based clip. Secondly, the videos were analyzed to ascertain what pertinent information they contained from a current National Institute on Deafness and Other Communication Disorders fact sheet...
January 2018: Noise & Health
https://www.readbyqxmd.com/read/29455623/rare-case-of-bilateral-aural-atresia-and-cochlear-dysplasia-when-cochlear-implantation-is-not-the-answer
#2
Maja Svrakic
OBJECTIVE AND IMPORTANCE: Reports of patients with concurrent middle and inner ear anomalies are rare. These patients present a surgical challenge for cochlear implantation. The surgical risk must be weighed against the predicted benefit of the patient's hearing outcome and subsequent development of speech and language as well as their quality of life. CLINICAL PRESENTATION: Thirteen-year-old boy presented to the Otology clinic for auditory rehabilitation options...
February 17, 2018: Cochlear Implants International
https://www.readbyqxmd.com/read/29455378/age-related-hearing-impairment-associated-nat2-grm7-grhl2-susceptibility-gene-polymorphisms-and-haplotypes-in-roma-and-hungarian-populations
#3
Petra Matyas, Etelka Postyeni, Katalin Komlosi, Renata Szalai, Judit Bene, Lili Magyari, Bela Melegh, Kinga Hadzsiev
Age-related hearing impairment (ARHI) is the most frequent sensory disease in the elderly, which is caused by an interaction between genetic and environmental factors. Here we examined the ethnic differences, allele and genotype frequencies of the NAT2, GRM7, and GRHL2 genes pooled samples of healthy Hungarian and healthy and hearing impaired Roma people. Study populations of healthy Hungarian and Roma subjects were characterized for the rs1799930 NAT2, rs11928865 GRM7, rs10955255, rs13263539, and rs1981361 GRHL2 polymorphisms and deaf Roma subjects were characterized for the rs1799930 NAT2, rs13263539, and rs1981361 GRHL2 using a PCR-RFLP method...
February 17, 2018: Pathology Oncology Research: POR
https://www.readbyqxmd.com/read/29453205/co-deficiency-of-lysosomal-mucolipins-3-and-1-in-cochlear-hair-cells-diminishes-outer-hair-cell-longevity-and-accelerates-age-related-hearing-loss
#4
Teerawat Wiwatpanit, Natalie N Remis, Aisha Ahmad, Yingjie Zhou, John C Clancy, Mary Ann Cheatham, Jaime García-Añoveros
Acquired hearing loss is the predominant neurodegenerative condition associated with aging in humans. Although mutations on several genes are known to cause congenital deafness in newborns, few genes have been implicated in age-related hearing loss (ARHL), perhaps because its cause is likely polygenic. Here, we generated mice lacking lysosomal calcium channel mucolipins 3 and 1 and discovered that both male and female mice suffered a polygenic form of hearing loss. While mucolipin 1 is ubiquitously expressed in all cells, mucolipin 3 is expressed in a small subset of cochlear cells -hair cells (HCs) and marginal cells of the stria vascularis- and very few other cell types...
February 16, 2018: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/29453195/mutation-of-ifnlr1-an-interferon-lambda-receptor-1-is-associated-with-autosomal-dominant-non-syndromic-hearing-loss
#5
Xue Gao, Yong-Yi Yuan, Qiong-Fen Lin, Jin-Cao Xu, Wei-Qian Wang, Yue-Hua Qiao, Dong-Yang Kang, Dan Bai, Feng Xin, Sha-Sha Huang, Shi-Wei Qiu, Li-Ping Guan, Yu Su, Guo-Jian Wang, Ming-Yu Han, Yi Jiang, Han-Kui Liu, Pu Dai
Background Hereditary sensorineural hearing loss is a genetically heterogeneous disorder. Objectives This study was designed to explore the genetic etiology of deafness in a large Chinese family with autosomal dominant, nonsyndromic, progressive sensorineural hearing loss (ADNSHL). Methods Whole exome sequencing and linkage analysis were performed to identify pathogenic mutation. Inner ear expression of Ifnlr1 was investigated by immunostaining in mice. ifnlr1 Morpholino knockdown Zebrafish were constructed to explore the deafness mechanism...
February 16, 2018: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29452611/pmca2-pump-mutations-and-hereditary-deafness
#6
REVIEW
Mario Bortolozzi, Fabio Mammano
Hair cells of the inner ear detect sound stimuli, inertial or gravitational forces by deflection of their apical stereocilia. A small number of stereociliary cation-selective mechanotransduction (MET) channels admit K+ and Ca2+ ions into the cytoplasm promoting hair cell membrane depolarization and, consequently, neurotransmitter release at the cell basolateral pole. Ca2+ influx into the stereocilia compartment is counteracted by the unusual w/a splicing variant of plasma-membrane calcium-pump isoform 2 (PMCA2) which, unlike other PMCA2 variants, increases only marginally its activity in response to a rapid variation of the cytoplasmic free Ca2+ concentration ([Ca2+ ]c )...
January 10, 2018: Neuroscience Letters
https://www.readbyqxmd.com/read/29452067/alcohol-and-drug-use-among-deaf-and-hard-of-hearing-individuals-a-secondary-analysis-of-nhanes-2013-2014
#7
Melissa L Anderson, Bei-Hung Chang, Nisha Kini
BACKGROUND: Within the field of behavioral health research, one of the most understudied populations is the U.S. Deaf and hard-of-hearing (D/HH) population - a diverse group of individuals with hearing loss that have varied language and communication preferences, community affiliations, and sociocultural norms. Recent research identified concerning behavioral health disparities experienced by the D/HH population; yet, little research has been conducted to extend these findings to the topic of substance use disorder...
February 16, 2018: Substance Abuse
https://www.readbyqxmd.com/read/29451100/ethnographic-analysis-of-communication-and-the-deaf-community-s-rights-in-the-clinical-context
#8
Dolors Rodríguez-Martín, Catalina Rodríguez-García, Anna Marta Falcó-Pegueroles
ABSTRAT Blackground: Communication is a key factor in people's interaction with the health system. In the case of Deaf Community -deaf sign language users- healthcare interactions could be affected by communication in a society that is mainly hearing and consequently, it can also have a negative impact on health and jeopardise some of their health rights. OBJECTIVES: . The aims were (i) to know the communication access difficulties of deaf people in healthcare context and (ii) determine how these difficulties violate their rights...
February 16, 2018: Contemporary Nurse
https://www.readbyqxmd.com/read/29449721/bi-allelic-inactivating-variants-in-the-coch-gene-cause-autosomal-recessive-prelingual-hearing-impairment
#9
Sebastien P F JanssensdeVarebeke, Guy Van Camp, Nils Peeters, Ellen Elinck, Josine Widdershoven, Tony Cox, Kristof Deben, Katrien Ketelslagers, Tom Crins, Wim Wuyts
Pathogenic variant in COCH are a known cause of DFNA9 autosomal dominant progressive hearing loss and vestibular dysfunction with adult onset. Hitherto, only dominant nonsynonymous variants and in-frame deletions with a presumed dominant negative or gain-of-function effect have been described. Here, we describe two brothers with congenital prelingual deafness and a homozygous nonsense c.292C>T(p.Arg98*) COCH variant, suggesting a loss-of-function effect. Vestibular dysfunction starting in the first decade was observed in the older patient...
February 15, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29447820/how-does-a-bilingual-environment-affect-the-results-in-children-with-cochlear-implants-compared-to-monolingual-matched-children-an-italian-follow-up-study
#10
Francesca Forli, Giada Giuntini, Annalisa Ciabotti, Luca Bruschini, Ulrika Löfkvist, Stefano Berrettini
OBJECTIVES: To compare the results after cochlear implantation achieved by monolingual and bilingual deaf children implanted at our Institution, with the aim of understanding if there are any differences between the two groups and if there is a correlation between the outcomes and some patients' variables. METHODS: The study group was composed by 14 bilingual deaf children and the control group by the same number of monolingual children implanted at our Institution...
February 2018: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/29447813/long-term-outcomes-of-universiti-kebangsaan-malaysia-cochlear-implant-program-among-pediatric-implantees
#11
Bee-See Goh, Noraziana Fadzilah, Asma Abdullah, Basyariatul Fathi Othman, Cila Umat
OBJECTIVES: Cochlear implant (CI) greatly enhances auditory performance as compared to hearing aids and has dramatically affected the educational and communication outcomes for profoundly deaf children. Universiti Kebangsaan Malaysia (UKM) pioneered CI program in 1995 in the South East Asia. We would like to report the long-term outcomes of UKM paediatric cochlear implantation in terms of: the proportion of children who were implanted and still using the device, the children's modes of communication, their educational placements, and their functional auditory/oral performance...
February 2018: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/29445579/patient-with-confirmed-leopard-syndrome-developing-multiple-melanoma
#12
Caroline Colmant, Deborah Franck, Liliane Marot, Gert Matthijs, Yves Sznajer, Sandrine Blomme, Isabelle Tromme
LEOPARD syndrome, also known as Gorlin syndrome II, cardiocutaneous syndrome, lentiginosis profusa syndrome, Moynahan syndrome, was more recently coined as Noonan syndrome with multiple lentigines (NSML), inside the RASopathies. Historically, the acronym LEOPARD refers to the presence of distinctive clinical features such as: lentigines (L), electrocardiographic/conduction abnormalities (E), ocular hypertelorism (O), pulmonary stenosis (P), genital abnormalities (A), retardation of growth (R), and sensorineural deafness (D)...
January 2018: Dermatology Practical & Conceptual
https://www.readbyqxmd.com/read/29445157/enhanced-viral-mediated-cochlear-gene-delivery-in-adult-mice-by-combining-canal-fenestration-with-round-window-membrane-inoculation
#13
Hidekane Yoshimura, Seiji B Shibata, Paul T Ranum, Richard J H Smith
Cochlear gene therapy holds promise for the treatment of genetic deafness. Assessing its impact in adult murine models of hearing loss, however, has been hampered by technical challenges that have made it difficult to establish a robust method to deliver transgenes to the mature murine inner ear. Here in we demonstrate the feasibility of a combined round window membrane injection and semi-circular canal fenestration technique in the adult cochlea. Injection of both AAV2/9 and AAV2/Anc80L65 via this approach in P15-16 and P56-60 mice permits robust eGFP transduction of virtually all inner hair cells throughout the cochlea with variable transduction of vestibular hair cells...
February 14, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29443620/transforming-patient-compliance-research-in-an-era-of-biomedicalization
#14
Karen Lutfey Spencer
The term patient noncompliance emerged in the 1970s as a tool for analyzing why people do not follow medical directives. Despite its early popularity, the term has languished in sociology while flourishing in biomedical arenas. It seems flaccid in a contemporary healthcare context as it overestimates physician authority and is tone-deaf to biomedicalization. I draw from sociological and anthropological traditions, as well as qualitative interviews with terminally ill patients ( N = 26) and their caregivers ( N = 16), to consider facets of a biomedicalized health experience and implications for an updated vision of compliance...
February 1, 2018: Journal of Health and Social Behavior
https://www.readbyqxmd.com/read/29441004/reverse-engineering-tone-deafness-disrupting-pitch-matching-by-creating-temporary-dysfunctions-in-the-auditory-motor-network
#15
Anja Hohmann, Psyche Loui, Charles H Li, Gottfried Schlaug
Perceiving and producing vocal sounds are important functions of the auditory-motor system and are fundamental to communication. Prior studies have identified a network of brain regions involved in pitch production, specifically pitch matching. Here we reverse engineer the function of the auditory perception-production network by targeting specific cortical regions (e.g., right and left posterior superior temporal (pSTG) and posterior inferior frontal gyri (pIFG)) with cathodal transcranial direct current stimulation (tDCS)-commonly found to decrease excitability in the underlying cortical region-allowing us to causally test the role of particular nodes in this network...
2018: Frontiers in Human Neuroscience
https://www.readbyqxmd.com/read/29440752/one-step-noninvasive-prenatal-testing-nipt-for-autosomal-recessive-homozygous-point-mutations-using-digital-pcr
#16
Mun Young Chang, Soyeon Ahn, Min Young Kim, Jin Hee Han, Hye-Rim Park, Han Kyu Seo, Jinsun Yoon, Seungmin Lee, Doo-Yi Oh, Changsoo Kang, Byung Yoon Choi
Previously, we introduced a noninvasive prenatal testing (NIPT) protocol for diagnosing compound heterozygous autosomal recessive point mutations via maternal plasma DNA and simulated control genomic DNA sampling based on fetal DNA fraction. In our present study, we have improved our NIPT protocol to make it possible to diagnose homozygous autosomal recessive point mutations without the need to acquire fetal DNA fraction. Moreover, chi-squared test and empirical statistical range based on the proportion of mutant allele reads among the total reads served as the gatekeeping method...
February 13, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29440379/targeting-the-cmet-pathway-augments-radiation-response-without-adverse-effect-on-hearing-in-nf2-schwannoma-models
#17
Yingchao Zhao, Pinan Liu, Na Zhang, Jie Chen, Lukas D Landegger, Limeng Wu, Fu Zhao, Yanxia Zhao, Yanling Zhang, Jing Zhang, Takeshi Fujita, Anat Stemmer-Rachamimov, Gino B Ferraro, Hao Liu, Alona Muzikansky, Scott R Plotkin, Konstantina M Stankovic, Rakesh K Jain, Lei Xu
Neurofibromatosis type II (NF2) is a disease that needs new solutions. Vestibular schwannoma (VS) growth causes progressive hearing loss, and the standard treatment, including surgery and radiotherapy, can further damage the nerve. There is an urgent need to identify an adjunct therapy that, by enhancing the efficacy of radiation, can help lower the radiation dose and preserve hearing. The mechanisms underlying deafness in NF2 are still unclear. One of the major limitations in studying tumor-induced hearing loss is the lack of mouse models that allow hearing testing...
February 9, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29439624/telepractice-delivery-of-family-centred-early-intervention-for-children-who-are-deaf-or-hard-of-hearing-a-scoping-review
#18
Melissa McCarthy, Greg Leigh, Michael Arthur-Kelly
Introduction The use of telepractice, a method of delivering services through telecommunications technologies that provides two-way, synchronous audio and video signals in real-time, is becoming increasingly commonplace in early childhood education and intervention for children who are deaf or hard of hearing. Although the use of telepractice has been validated in the health sector as a viable and effective alternative to in-person service provision, evidence to support its use in the delivery of family-centred early intervention is still emerging...
January 1, 2018: Journal of Telemedicine and Telecare
https://www.readbyqxmd.com/read/29434063/mutations-in-otof-cldn14-slc26a4-genes-as-major-causes-of-hearing-impairment-in-dhadkai-village-jammu-kashmir-india
#19
Nishtha Pandey, Tabassum Rashid, Rajeev Jalvi, Meenakshi Sharma, Raghunath Rangasayee, Khurshid Iqbal Andrabi, Anuranjan Anand
Background & objectives: A high incidence of hearing impairment is reported from the village of Dhadkai in the State of Jammu and Kashmir, India. Prevalence of endogamy in this community suggested a common genetic basis for the disorder. A genetic study was undertaken to ascertain the basis for the high incidence of hearing impairment in this region. Methods: In a two-step approach to identify the causative mutation/s, a whole-genome-based linkage analysis of an extended family of 45 members was carried out, which included 23 affected and 22 unaffected members...
October 2017: Indian Journal of Medical Research
https://www.readbyqxmd.com/read/29432882/congenital-deafness-reduces-but-does-not-eliminate-auditory-responsiveness-in-lateral-suprasylvian-visual-cortex-of-cats
#20
Rüdiger Land, Jan-Ole Radecke, Andrej Kral
Congenital deafness not only affects the development of the auditory cortex, but also the interrelation between the visual and auditory system. For example, congenital deafness leads to visual modulation of the deaf auditory cortex in the form of cross-modal plasticity. Here we asked, whether congenital deafness additionally affects auditory modulation in the visual cortex. We demonstrate that auditory activity, which is normally present in the suprasylvian visual areas in normal hearing cats, can also be elicited by electrical activation of the auditory system with cochlear implants...
February 9, 2018: Neuroscience
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