scholarly journals A KCNQ4 c.546C>G Genetic Variant Associated with Late Onset Non-Syndromic Hearing Loss in a Taiwanese Population

Genes ◽  
2021 ◽  
Vol 12 (11) ◽  
pp. 1711
Author(s):  
Ting-Ting Yen ◽  
I-Chieh Chen ◽  
Men-Wei Hua ◽  
Chia-Yi Wei ◽  
Kai-Hsiang Shih ◽  
...  

Clinical presentation is heterogeneous for autosomal dominant nonsyndromic hearing loss (ADNSHL). Variants of KCNQ4 gene is a common genetic factor of ADNSHL. Few studies have investigated the association between hearing impairment and the variant c.546C>G of KCNQ4. Here, we investigated the phenotype and clinical manifestations of the KCNQ4 variant. Study subjects were selected from the participants of the Taiwan Precision Medicine Initiative. In total, we enrolled 12 individuals with KCNQ4 c.546C>G carriers and 107 non-carriers, and performed pure tone audiometry (PTA) test and phenome-wide association (PheWAS) analysis for the patients. We found that c.546C>G variant was related to an increased risk of hearing loss. All patients with c.546C>G variant were aged >65 years and had sensorineural and high frequency hearing loss. Of these patients, a third (66.7%) showed moderate and progressive hearing loss, 41.7% complained of tinnitus and 16.7% complained of vertigo. Additionally, we found a significant association between KCNQ4 c.546C>G variant, aortic aneurysm, fracture of lower limb and polyneuropathy in diabetes. KCNQ4 c.546C>G is likely a potentially pathogenic variant of ADNSHL in the elderly population. Genetic counseling, annual audiogram and early assistive listening device intervention are highly recommended to prevent profound hearing impairment in this patient group.

2021 ◽  
Vol 36 (1) ◽  
pp. 14-19
Author(s):  
Rabi Biswas ◽  
Md Rafiqul Islam

Background: There is increased risk of hearing impairment in children with congenital hypothyroidism (CH). Only a few studies have explored the prevalence of hearing impairment in CH and their results vary widely. There is no data of hearing impairment in Bangladeshi children with CH. Objectives: The aim of this study was to investigate the prevalence of hearing impairment in children with CH, and its relation with age of diagnosis and the dose of thyroxine (T4) they received. Methods: This study was conducted in Paediatric Endocrinology & Metabolic Disorder Department of Dhaka Shishu (Children) Hospital from July 2014 to December 2018. Hearing evaluation of 55 children diagnosed with CH was performed with a battery of tools that included Middle ear analysis, Pure Tone Audiometry (PTA), Behavioral Observation Audiometry (BOA) and Oto Acoustic Emissions (OAE). The choice of assessment tool was based on patient’s age. Results: The mean age at diagnosis and at inclusion into the study was 2.0±1.7 years and 3.2±2.3 years respectively. The etiological diagnosis was thyroid agenesis in 40(72.7%), ectopia in 3(5.5%), dyshormonogenesis in 7(12.7%) and hypothyroidism with eutopic gland in 5(9.1%%) patients. Middle ear analysis, PTA, BOA and OAE was done in 35, 28, 32 and 37 patients respectively. Sensorineural hearing loss was detected in 1 out of 55(1.8%) patients while conductive hearing loss was found in 3(5.4%) patients. Conclusion: Hearing loss was present in a small proportion of patients with permanent CH. Further larger studies are required to determine the exact prevalence of hearing impairment in Bangladeshi children with CH. DS (Child) H J 2020; 36(1) : 14-19


2021 ◽  
Vol 3 (1) ◽  
pp. 005-008
Author(s):  
Kiran Naik ◽  
Ravi KS ◽  
Pragati

Background: Hearing loss is often thought of as a natural phenomenon of the aging process. However younger people with repeated usage of ear phone music are reporting nowadays with hearing impairment and more during this COVID pandemic era. In today’s society, these devices are indispensable and are part of day‑to‑day life and because of the restriction on outdoor movement in COVID pandemic more and more people are reliant on ear phone music to allay boredom. Hence, this study was conducted to create awareness regarding prolonged exposure to loud noise either through an MP3 player or cell phone music. Materials and Methods: A prospective study was done compromising 400 students from Shri Adichunchanagiri Institute of Medical Sciences from March 2020 to December 2020. They were divided into four groups using a questionnaire, Group A comprising 100 students who had a habit of listening to music through ear phones at least 2 h a day, Group B comprising 100 students who are used to earphone music less than 1 h per day and Group C comprising of 100 students who very occasionally use ear phones, but hear music mostly through speakers and Group D comprising of 100 students who are not used to ear phone music. All the 400 students studied were attending online classes as per the college schedule which constituted 3-4 hours daily. All the groups were subjected to pure tone audiometry when they reported back to their regular offline classes as the pandemic reduced in January 2021 and the audiogram obtained. Results and Observations: The study revealed high frequency hearing loss in 6% of Group A and 2% in Group B; whereas, in there were no hearing impairment in Groups C and D indicating a significant role of prolonged ear phone music as a cause of high frequency hearing loss in students. The thin percentage and absence of hearing loss in Groups B, C, and D suggests the impact of the duration of exposure also has a role in the pathology. Conclusion: This study proves beyond doubt that the prolonged usage of loud ear phone music is harmful to the ears and also the COVID induced movement restriction precipitated the indiscriminate use of ear phone music which further increased the causation.


Author(s):  
Betsy Szeto ◽  
Chris Valentini ◽  
Anil K Lalwani

ABSTRACT Background The elderly are at increased risk of both hearing loss (HL) and osteoporosis. Bone mineral density (BMD) has been putatively linked to HL. However, the roles of serum calcium concentrations and vitamin D status have yet to be elucidated. Objectives The purpose of this study was to examine the relation between vitamin D status, parathyroid hormone (PTH), total calcium, BMD, and HL in a nationally representative sample of elderly adults. Methods Using the NHANES (2005–2010), audiometry and BMD data of 1123 participants aged ≥70 y were analyzed in a cross-sectional manner. HL was defined as pure tone averages >25 dB HL at 500, 1000, and 2000 Hz (low frequency); 500, 1000, 2000, and 4000 Hz (speech frequency); and 3000, 4000, 6000, and 8000 Hz (high frequency) in either ear. Multivariable logistic regression was used to examine the relation between HL and total 25-hydroxyvitamin D [25(OH)D], PTH, total calcium, and BMD, adjusting for covariates. Results In multivariable analyses, total 25(OH)D < 20 ng/mL was found to be associated with greater odds of low-frequency HL (OR: 2.02; 95% CI: 1.28, 3.19) and speech-frequency HL (OR: 1.96; 95% CI: 1.12, 3.44). A 1-unit decrease in femoral neck BMD (OR: 4.55; 95% CI: 1.28, 16.67) and a 1-unit decrease in total spine BMD (OR: 6.25; 95% CI: 1.33, 33.33) were found to be associated with greater odds of low-frequency HL. Serum PTH and total calcium were not found to be associated with HL. Conclusions In the elderly, low vitamin D status was associated with low-frequency and speech-frequency HL. Low vitamin D status may be a potential risk factor for age-related HL.


2013 ◽  
Vol 47 (2) ◽  
pp. 309-315 ◽  
Author(s):  
Maria Cecilia Bevilacqua ◽  
Marcos Roberto Banhara ◽  
Ariadnes Nobrega de Oliveira ◽  
Adriane Lima Mortari Moret ◽  
Katia de Freitas Alvarenga ◽  
...  

OBJECTIVE: To identify the prevalence of hearing loss for the population in the urban area. METHODS: A cross-sectional household survey based on the World Health Organization Ear and Hearing Disorders Survey Protocol was conducted in 298 households in the urban area of Monte Negro, Rondonia, Northern Brazil, from 2005 to 2007. Ear examinations, behavioral audiometry and pure tone audiometry were conducted on 577 individuals. RESULTS: The results showed that 3.8% (95%CI 2.17;5.45) of population were classified in the disabling hearing impairment category. The prevalence of moderate hearing impairment was 3.4%; severe impairment was 0.4%; and profound hearing impairment was not found. CONCLUSIONS: The impairing hearing loss prevalence found in this study is within of the international prevalence for this level of hearing loss and smaller than observed in a previous study in the South region of Brazil.


2019 ◽  
Vol 147 (7-8) ◽  
pp. 461-467
Author(s):  
Ivana Maletic-Sekulic ◽  
Stasa Petkovic ◽  
Ninoslava Dragutinovic ◽  
Ivana Veselinovic ◽  
Ljiljana Jelicic

Introduction/Objective. Presbycusis, elderly hearing loss, is a progressive, bilateral sensoryneural hearing loss characterized by reduced sensitivity of hearing and understanding speech in a noisy environment, thereby impairing communication and inducing anxiety. The objective was to examine the impact of hearing amplification on subjective hearing disability assessment and anxiety in people with presbycusis. Method. Sample consisted of 120 respondents aged 47?85 with presbycusis, 60 subjects with and 60 subjects with no auditory amplification. The standardized Hearing Handicap Inventory for the Elderly and the Spielberger State Trait Anxiety Inventory were used in the study. Results. In subjects with hearing amplification, test/retest has no statistical significance in the STAI and HHIE scales and subscales, except the HHIE-S (p = 0.004) with a lower score on the retest. Respondents in whom hearing amplification was performed during the year was statistically significant in HHIE (p = 0.016), HHIE-S (p = 0.004) and STAI-S (p = 0.029) which speaks of favorable effect of hearing amplification. In the group with no hearing amplification, statistical significance was observed in relation to the HHIE scores (p = 0.002), HHIE-E (p = 0.000), STAI (p = 0.000), STAI-S (p = 0.001) and STAI-T (p = 0.001) and it was noticed that anxiety, loss of emotional contacts, and more pronounced degree of hearing impairment were the result of unassisted hearing rehabilitation. Conclusion. Audiological practice should include tests for assessment of hearing disability and anxiety in order to preserve health in later life.


2020 ◽  
Vol 9 (11) ◽  
pp. 3665
Author(s):  
Dongmin Kim ◽  
Pil-Sung Yang ◽  
Gregory Y.H. Lip ◽  
Boyoung Joung

Atrial fibrillation (AF) is considered a risk factor for dementia, especially in the elderly. However, the association between the two diseases is not well identified in different age subgroups. The association of incident AF with the development of dementia was assessed from 1 January 2005, to 31 December 2013, in 428,262 participants from a longitudinal cohort (the Korea National Health Insurance Service-Health Screening cohort). In total, 10,983 participants were diagnosed with incident AF during the follow-up period. The incidence of dementia was 11.3 and 3.0 per 1000 person-years in the incident-AF and without-AF groups, respectively. After adjustment for clinical variables, the risk of dementia was significantly elevated by incident AF, with a hazard ratio (HR) of 1.98 (95% confidence interval [CI]: 1.80–2.17, p < 0.001), even after censoring for stroke (HR: 1.74, 95% CI: 1.55–1.94, p < 0.001). The HRs of incident AF for dementia onset before the age of 65 (early-onset dementia) and for onset after the age of 65 (late-onset dementia) were 2.91 (95% CI: 1.93–4.41) and 1.67 (95% CI: 1.49–1.87), respectively. Younger participants with AF were more prone to dementia development than older participants with AF (p for trend < 0.001). AF was associated with an increased risk of both early- and late-onset dementia, independent of clinical stroke.


2020 ◽  
Vol 28 (2) ◽  
pp. 112-119
Author(s):  
Raveendra P Gadag ◽  
Puneeth S Nayak ◽  
Tejaswini J

Background: Hearing impairment is known to hamper the quality of life among patients, especially among diabetics due to the association of neuropathy with diabetes. However, the prevalence and degree of the SNHL depends upon different factors, such as age, gender, disease duration of DM, family history and glycemic status of the patients. Therefore, this study aimed to assess the association of SNHL with DM duration and familial DM and gender preponderance among SNHL–DM patients. Methods: Total 140 patients with DM were assessed for hearing impairment using Rinne, Weber and Absolute Bone Conduction Tests along with pure tone audiometry. Patients’ glycaemic status was determined by estimating fasting blood glucose (FBG) and post prandial blood glucose (PPBG) levels. Independent t-test, chi-square, ANOVA and Pearson’s correlation tests along with linear regression model were used to find association and correlation using R software. Results: Out of 140 patients, 60 were suffering from SNHL and majority were suffering from bilateral minimal hearing loss. SNHL was significantly associated with family history, age, duration of DM, FBG and PPBG levels were(Pvalues:1.79E08, 4.41E-06 and 0.02), however, significant correlated with duration of DM, FBS and PPBG level (r value:0.14–0.41).Furthermore, significant SNHL at 500 and 8000Hz was observed in the present study (Pvalue:0.002). Conclusion: A conclusive proof was drawn that family history of DM serve as a valuable variable in assessing the SNHL among DM patients.


2018 ◽  
Vol 103 (8) ◽  
pp. 3103-3109 ◽  
Author(s):  
So Young Kim ◽  
Il Gyu Kong ◽  
Hyun Lim ◽  
Hyo Geun Choi

Abstract Context The results of a previous population cohort study suggested an association between osteoporosis and sudden sensory neural hearing loss (SSNHL). Objectives To use a nationwide cohort in the Korean population to investigate the risk of SSNHL in patients with osteoporosis. Design, Setting, and Participants Data entered from 2002 to 2013 were collected from the Korean National Health Insurance Service-National Sample Cohort. A total of 68,241 patients with osteoporosis aged ≥50 years were matched with 68,241 control individuals. The crude (simple) and adjusted hazard ratios (HRs) of SSNHL in those with osteoporosis were analyzed using the Cox proportional hazard model. A subgroup analysis was performed according to age and sex. Results The risk of SSNHL was greater in the osteoporosis group than in the control group (adjusted HR, 1.56; 95% CI, 1.37 to 1.78; P &lt; 0.001). The risk of SSNHL in those with osteoporosis was greater in patients aged &lt;60 years, regardless of sex. Women aged ≥60 years had a higher HR for SSNHL in the presence of osteoporosis (women aged 60 to 69 years: adjusted HR, 1.67; 95% CI, 1.34 to 2.08; P &lt; 0.001; women aged ≥70 years: adjusted HR, 1.90; 95% CI, 1.29 to 2.79; P &lt; 0.001). Conclusions The risk of SSNHL was greater for patients with osteoporosis aged ≥50 years. Middle-age adults, as well as the elderly, are at an increased risk of SSNHL in the presence of osteoporosis.


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