keyword
https://read.qxmd.com/read/38691166/the-natural-history-and-genotype-phenotype-correlations-of-tmprss3-hearing-loss-an-international-multi-center-cohort-analysis
#1
JOURNAL ARTICLE
Brett M Colbert, Cris Lanting, Molly Smeal, Susan Blanton, Derek M Dykxhoorn, Pei-Ciao Tang, Richard L Getchell, Hedwig Velde, Mirthe Fehrmann, Ryan Thorpe, Prem Chapagain, Heidy Elkhaligy, Hannie Kremer, Helger Yntema, Lonneke Haer-Wigman, Shelby Redfield, Tieqi Sun, Saskia Bruijn, Astrid Plomp, Thadé Goderie, Jiddeke van de Kamp, Rolien H Free, Jolien Klein Wassink-Ruiter, Josine Widdershoven, Els Vanhoutte, Liselotte Rotteveel, Marjolein Kriek, Marieke van Dooren, Lies Hoefsloot, Heriette H W de Gier, Amanda Schaefer, Diana Kolbe, Hela Azaiez, Grace Rabie, Armal Aburayyan, Mariana Kawas, Moien Kanaan, Jourdan Holder, Shin-Ichi Usami, Zhengyi Chen, Pu Dai, Jeffrey Holt, Rick Nelson, Byung Yoon Choi, Eliot Shearer, Richard J H Smith, Ronald Pennings, Xue Zhong Liu
TMPRSS3-related hearing loss presents challenges in correlating genotypic variants with clinical phenotypes due to the small sample sizes of previous studies. We conducted a cross-sectional genomics study coupled with retrospective clinical phenotype analysis on 127 individuals. These individuals were from 16 academic medical centers across 6 countries. Key findings revealed 47 unique TMPRSS3 variants with significant differences in hearing thresholds between those with missense variants versus those with loss-of-function genotypes...
April 30, 2024: Human Genetics
https://read.qxmd.com/read/38690971/the-effects-of-light-level-and-signal-to-noise-ratio-on-the-task-evoked-pupil-response-in-a-speech-in-noise-task
#2
JOURNAL ARTICLE
Jennifer Baldock, Sarosh Kapadia, Willem van Steenbrugge, Jason McCarley
PURPOSE: There is increasing interest in the measurement of cognitive effort during listening tasks, for both research and clinical purposes. Quantification of task-evoked pupil responses (TEPRs) is a psychophysiological method that can be used to study cognitive effort. However, light level during cognitively demanding listening tasks may affect TEPRs, complicating interpretation of listening-related changes. The objective of this study was to examine the effects of light level on TEPRs during effortful listening across a range of signal-to-noise ratios (SNRs)...
May 1, 2024: Journal of Speech, Language, and Hearing Research: JSLHR
https://read.qxmd.com/read/38690505/cochleovestibular-signs-as-the-first-manifestation-of-fabry-disease-a-case-report-and-literature-review
#3
Yasmina Zakaria, Naji Yahya, Najib Kissani
Fabry disease (FD) is an X-linked lysosomal storage disorder characterized by alpha-galactosidase A deficiency, resulting in globotriaosylceramide accumulation and diverse clinical manifestations. We report a case of a 22-year-old male presenting with cochleovestibular disorders as the initial FD manifestation, alongside a literature review. Diagnostic evaluation revealed reduced alpha-galactosidase A activity, confirming FD. Cochleovestibular involvement, although underexplored, significantly affects FD patients, often presenting with sudden deafness or sensorineural hearing loss...
March 2024: Curēus
https://read.qxmd.com/read/38689526/combination-of-four-features-of-slc29a3-spectrum-disorder-in-a-child-a-case-report
#4
Nahid Aslani, Bahareh Abtahi-Naeini, Fereshte Rastegarnasab, Maryam Derakhshan, Elham Tavousi, Kimia Mehraein
SLC29A3 spectrum disorder, also known as histiocytosis-lymphadenopathy plus syndrome (HLPS), presents a wide variety of multi-systemic manifestations that can be mistaken for other conditions. Herein, we report a 9-year-old girl who presented with a complex clinical presentation since birth, including chronic generalized lymphadenopathy in association with hepatosplenomegaly, short stature, flexion contractures, hearing loss, hyperpigmentation, and heart anomalies. She was ultimately diagnosed with the SLC29A3 spectrum disorder...
April 30, 2024: Pediatric Dermatology
https://read.qxmd.com/read/38689521/development-and-initial-validation-of-a-meniere-s-disease-quality-of-life-instrument-the-menqol
#5
JOURNAL ARTICLE
Alexandra E Quimby, Jason A Brant, Jeffrey P Staab, Michael J Ruckenstein
OBJECTIVE: To design and validate a disease-specific quality of life instrument for Meniere's disease. METHODS: We used a sequential process of expert input, patient focus groups, and analyses of responses to draft questionnaires to create a 24-item Meniere's disease quality of life (MenQOL) instrument. The MenQOL and the SF-36v2 were administered to a cohort of 50 patients with Meniere's disease and 60 comparison patients with tinnitus, vertigo, or hearing loss from other causes identified at a tertiary academic center...
April 30, 2024: Laryngoscope
https://read.qxmd.com/read/38688185/factors-that-influence-stress-in-caregivers-of-5-year-old-children-with-hearing-loss-wearing-hearing-aids-or-cochlear-implants
#6
JOURNAL ARTICLE
Armita Adily, Vivienne Marnane, Raaya Tiko, Vijayalakshmi Easwar
OBJECTIVE: Stress levels among caregivers of children with hearing loss could influence caregiver-child interactions and ultimately, children's developmental outcomes. Given the limited understanding of stress levels among caregivers of Australian children with hearing loss, the present study aimed to examine stress in caregivers of 5-year-old children with hearing loss wearing hearing aids or cochlear implants and to identify factors associated with greater stress levels. METHODS: A total of 99 caregivers of 70 hearing aid users and 29 cochlear implant users participated in the study...
March 5, 2024: International Journal of Pediatric Otorhinolaryngology
https://read.qxmd.com/read/38687845/clinical-practice-guideline-age-related-hearing-loss
#7
JOURNAL ARTICLE
Betty S Tsai Do, Matthew L Bush, Heather M Weinreich, Seth R Schwartz, Samantha Anne, Oliver F Adunka, Kaye Bender, Kristen M Bold, Michael J Brenner, Ardeshir Z Hashmi, Teresa A Keenan, Ana H Kim, Denée J Moore, Carrie L Nieman, Catherine V Palmer, Erin J Ross, Kristen K Steenerson, Kevin Y Zhan, Joe Reyes, Nui Dhepyasuwan
OBJECTIVE: Age-related hearing loss (ARHL) is a prevalent but often underdiagnosed and undertreated condition among individuals aged 50 and above. It is associated with various sociodemographic factors and health risks including dementia, depression, cardiovascular disease, and falls. While the causes of ARHL and its downstream effects are well defined, there is a lack of priority placed by clinicians as well as guidance regarding the identification, education, and management of this condition...
May 2024: Otolaryngology—Head and Neck Surgery
https://read.qxmd.com/read/38687778/quantification-of-suppressor-effects-on-breech-and-action-noise-from-ar-15-pattern-firearms-and-its-implications-for-the-protection-of-human-hearing
#8
JOURNAL ARTICLE
Robert J Agnew, Aaron Alexander, Carla Goad, Nason Pace, Justin Beel, Yasir Alabaaltahin, Bo Denny
Noise from firearms is well known to be harmful to human hearing. This problem has been addressed by various military units through the use of muzzle suppressors. However, as suppressor technology has advanced, shooters report hearing the mechanical action of gas-operated semi-automatic rifles (ArmaLite Rifle Model 15 style aka AR-15) as being louder than the suppressed muzzle noise. This study aims to evaluate if harmful noise is present in the shooter's ear, even when impulse noise emanating from the muzzle is suppressed...
April 30, 2024: Journal of Occupational and Environmental Hygiene
https://read.qxmd.com/read/38687209/experimental-laboratory-models-as-tools-for-understanding-modifiable-dementia-risk
#9
REVIEW
Duncan Sinclair, Alison J Canty, Jenna M Ziebell, Adele Woodhouse, Jessica M Collins, Sharn Perry, Eddy Roccati, Maneesh Kuruvilla, Jacqueline Leung, Rachel Atkinson, James C Vickers, Anthony L Cook, Anna E King
Experimental laboratory research has an important role to play in dementia prevention. Mechanisms underlying modifiable risk factors for dementia are promising targets for dementia prevention but are difficult to investigate in human populations due to technological constraints and confounds. Therefore, controlled laboratory experiments in models such as transgenic rodents, invertebrates and in vitro cultured cells are increasingly used to investigate dementia risk factors and test strategies which target them to prevent dementia...
April 30, 2024: Alzheimer's & Dementia: the Journal of the Alzheimer's Association
https://read.qxmd.com/read/38687186/relationship-between-serum-brain-derived-neurotrophic-factor-and-neurotrophin-3-levels-and-hearing-thresholds-in-age-related-patients-with-hearing-loss
#10
JOURNAL ARTICLE
Diler Us Altay, Hakan Korkmaz, Mukadder Korkmaz, Tevfik Noyan
BACKGROUND: Age-related hearing loss (ARHL) is a general term used to describe the sensorineural type of hearing loss occurring in both ears in older adults. Neurotrophins are the most promising candidates for supporting the auditory nerve by increasing neuronal survival. This study aimed to help elucidate the pathophysiology of ARHL by determining whether any relationship exists between brain-derived neurotrophic factor (BDNF) and neurotrophin-3 (NT-3) levels in serum samples from patients diagnosed with ARHL...
April 30, 2024: Journal of Speech, Language, and Hearing Research: JSLHR
https://read.qxmd.com/read/38686843/adult-normative-data-for-the-omni-vocal-effort-scale-ves
#11
JOURNAL ARTICLE
Mariah E Morton-Jones, Lauren Timmons Sund, M Eugenia Castro, Edie R Hapner
PURPOSE: To establish normative values for the OMNI-Vocal Effort Scale (VES) in healthy adults without voice complaints. Secondary objective is to determine if there are differences in perceived vocal effort across age groups and between sexes. STUDY DESIGN: Prospective data collection across groups. METHOD: A nine-item survey was administered by speech-language pathologists with specialization in voice to consenting adults 18 years or older...
April 30, 2024: Laryngoscope
https://read.qxmd.com/read/38686601/sound-exposure-promotes-intratympanic-drug-delivery-to-the-inner-ear
#12
JOURNAL ARTICLE
Omer J Ungar, Yumai Situ, Jennifer L Spiegel, Joseph M Chen, Vincent Y W Lin, Trung N Le
OBJECTIVE: To investigate the impact of sound exposure, with the resultant windows vibration on perilymphatic concentrations following intratympanic (IT) dexamethasone and gentamicin in an animal model. STUDY DESIGN: Animal model blinded study. SETTING: Animal facility of a tertiary medical center. METHODS: Bilateral IT dexamethasone or gentamicin was applied to 15 tested rats. Following injections, each rat was exposed for 3 minutes to free field 30 dB sound pressure level (SPL), 512 vHz noise, with 1 external auditory canal plugged (contralateral control)...
April 30, 2024: Otolaryngology—Head and Neck Surgery
https://read.qxmd.com/read/38686585/vestibular-hypofunction-screening-in-older-cochlear-implant-candidates
#13
JOURNAL ARTICLE
Benjamin D Lovin, Daniel Gorelik, Kenny F Lin, Jeffrey T Vrabec
OBJECTIVE: Vestibular loss is associated with increasing age and hearing loss. Cochlear implantation (CI) may be performed in these patients; however, CI can induce vestibular hypofunction (VH) postoperatively. If CI is performed in the "better balancing ear," patients may experience vestibulopathy from new bilateral VH. The objective of this study was to evaluate the rates of VH in older CI candidates, thereby helping to identify patients at increased risk for bilateral VH after CI. STUDY DESIGN: Retrospective cohort study from 2019 to 2022 of patients age 60 to 80 years old who underwent videonystagmography (VNG)...
April 30, 2024: Otolaryngology—Head and Neck Surgery
https://read.qxmd.com/read/38686484/-assessment-of-auditory-perception-of-children-with-single-sided-deafness-after-cochlear-implantation
#14
JOURNAL ARTICLE
Xuemei Wang, Jiahui Chen, Rui Zhang, Qiong Wu, Mengyun Fan, Wendi Shi, Gaozhong Lou, Qing Zhang
<b/>Unilateral deafness will lead to the decline of children's speech recognition rate, language development retardation and spatial positioning ability, which will have many adverse effects on children's life and study. Cochlear implantation can help children rebuild binaural hearing, and systematic audiological evaluation after operation is particularly important for clinicians to evaluate the hearing recovery of children. In this study, a variety of commonly used audiological evaluation, testing processes and methods after cochlear implantation in children with unilateral deafness are described in detail, and the related research status and results are summarized...
May 2024: Journal of Clinical Otorhinolaryngology, Head, and Neck Surgery
https://read.qxmd.com/read/38686480/-cochlear-implantation-through-retro-facial-approach-with-congenital-microtia-malformation-with-facial-nerve-deformity-a-case-report
#15
JOURNAL ARTICLE
Xinyue Zou, Shujin Xue, Xingmei Wei, Biao Chen, Yongxin Li
<b/>The difficulty of cochlear implantation in patients with congenital microtia is usually increased due to the vague anatomical marks and facial nerve malformation. The common types of facial nerve malformation include facial nerve bony cover loss, aberrant position, and bifurcation malformation. Bifurcation malformation may obscure the oval window, press against stapes, and bifurcate in the vestibular window while obscuring the round window. It is important to correctly identify the facial nerve and choose a reasonable surgical approach to avoid postoperative complications...
May 2024: Journal of Clinical Otorhinolaryngology, Head, and Neck Surgery
https://read.qxmd.com/read/38686473/-analysis-of-clinical-manifestations-and-imaging-features-of-facial-nerve-schwannomas
#16
JOURNAL ARTICLE
Yu Han, Hongsheng Liu, Runqin Yang, Rui Li, Xiaoxiao Liu, Wenyue Wang, Jiayi Zhang, Jiping Dong, Dingjun Zha
Objective: To explore the clinical manifestations and imaging characteristics, and to clarify the imaging value in the diagnosis of facial nerve schwannomas. Methods: Retrospectively analyze the data of 23 patients with facial nerve schwannomas confirmed by surgery and pathology in the Department of Otorhinolaryngology of the First Affiliated Hospital of the Air Force Military Medical University from September 2020 to September 2022, including 8 males and 15 females, aged 18-66 years old. Summarize and analyze their clinical symptoms, specialized examinations, and imaging findings...
May 2024: Journal of Clinical Otorhinolaryngology, Head, and Neck Surgery
https://read.qxmd.com/read/38686130/association-between-triglyceride-glucose-index-and-hearing-threshold-shifts-of-adults-in-the-united-states-national-health-and-nutrition-examination-survey-2015-2016
#17
JOURNAL ARTICLE
Jia-Ying Pan, Yuan Chen, Zhi-He Lin, Bo Lv, Lei Chen, Shao-Yan Feng
OBJECTIVE: Sensorineural Hearing Loss (SNHL) is a representative human sensory impairment, few studies have paid attention to the correlation between the Triglyceride-Glucose (TyG) index and SNHL to date. We conducted this analysis to elucidate the correlation between the TyG index and pure tone hearing thresholds among US adults. METHODS: Our analysis included 1226 adults (age range: 20 to 69 years old) from the 2015-2016 National Health and Nutrition Examination Survey (NHANES) data...
2024: Journal of Multidisciplinary Healthcare
https://read.qxmd.com/read/38685833/cognitive-functions-and-subjective-hearing-in-cochlear-implant-users
#18
JOURNAL ARTICLE
Fawen Zhang, Kelli McGuire, Madeline Skeeters, Matthew Barbara, Pamara F Chang, Nanhua Zhang, Jing Xiang, Bin Huang
BACKGROUND AND OBJECTIVES: : A cochlear implant (CI) is an effective prosthetic device used to treat severe-to-profound hearing loss. The present study examined cognitive function in CI users by employing a web-based cognitive testing platform, i.e., BrainCheck, and explored the correlation between cognitive function and subjective evaluation of hearing. SUBJECTS AND METHODS: : Forty-two CI users (mean age: 58.90 years) were surveyed in the subjective evaluation of hearing, and 20/42 participated in the BrainCheck cognitive tests (immediate recognition, Trail Making A, Trail Making B, Stroop, digit symbol substitution, and delayed recognition)...
April 30, 2024: Journal of Audiology & Otology
https://read.qxmd.com/read/38685588/the-in-visibility-of-deafness-identity-stigma-quality-of-life%C3%A2-and-the-potential-role-of-totally-implantable-cochlear-implants
#19
JOURNAL ARTICLE
Chi Yhun Lo, Robyn Clay-Williams, Beth Elks, Chris Warren, Frances Rapport
INTRODUCTION: The disclosure of deafness is complex, given the historic and on-going stigma associated with being deaf. The aim of this study was to explore how identity, stigma, and quality of life may be impacted when using cochlear implants (CIs) and totally implantable cochlear implants (TICIs). The physical difference between these two assistive listening devices is significant, given many CI users opt to hide their sound processor behind hair or headwear, in contrast to TICIs (an emerging technology) whereby all components are implanted internally and thus invisible...
June 2024: Health Expectations: An International Journal of Public Participation in Health Care and Health Policy
https://read.qxmd.com/read/38685075/association-between-the-atherogenic-index-of-plasma-and-hearing-loss-based-on-a-nationwide-cross-sectional-study
#20
JOURNAL ARTICLE
Zhiyuan Wu, Shu Wang, Xiaowu Huang, Mengyao Xie, Zhijin Han, Chen Li, Shuyi Wang, Qi Tang, Hua Yang
BACKGROUND: Hearing loss (HL) is a worldwide public health issue for which the role of dyslipidemia has not been fully elucidated. This study aimed to use the atherogenic index of plasma (AIP), a well-established serum lipid marker, to investigate the association of dyslipidemia with HL among the general population. METHODS: Participants (n = 3267) from the National Health and Nutrition Examination Survey database (2005-2012, 2015-2018) were included in the present study...
April 29, 2024: Lipids in Health and Disease
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