Evidence of an increased risk of hearing loss in heterozygous carriers in a Wolfram syndrome family

1998 ◽  
Vol 103 (4) ◽  
pp. 470-474 ◽  
Author(s):  
Tomoaki Ohata ◽  
A. Koizumi ◽  
Tsuyoshi Kayo ◽  
Yutaka Shoji ◽  
Arata Watanabe ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Wolfram Syndrome ◽  
Increased Risk ◽  
Heterozygous Carriers

scholarly journals Role of CASP7 polymorphisms in noise-induced hearing loss risk in Han Chinese population

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Yanmei Ruan ◽  
Jinwei Zhang ◽  
Shiqi Mai ◽  
Wenfeng Zeng ◽  
Lili Huang ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Chinese Population ◽  
Conditional Logistic Regression ◽  
Han Chinese ◽  
Control Group ◽  
Environment Interaction ◽  
Noise Induced Hearing Loss ◽  
Han Chinese Population ◽  
Hearing Thresholds ◽  
Increased Risk

AbstractGenetic factors and gene-environment interaction may play an important role in the development of noise induced hearing loss (NIHL). 191 cases and 191 controls were selected by case–control study. Among them, case groups were screened from workers exposed to noise in binaural high-frequency hearing thresholds greater than 25 dB (A). Workers with hearing thresholds ≤ 25 dB (A) in any binaural frequency band were selected to the control group, based on matching factors such as age, exposure time to noise, and operating position. The blood samples from two groups of workers were subjected to DNA extraction and SNP sequencing of CASP3 and CASP7 genes using the polymerase chain reaction ligase detection reaction method. Conditional logistic regression correction was used to analyze the genetic variation associated with susceptibility to NIHL. There was an association between rs2227310 and rs4353229 of the CASP7 gene and the risk of NIHL. Compared with the GG genotype, the CC genotype of rs2227310 reduced the risk of NIHL. Compared with CC genotype, the TT genotype of rs4353229 reduced the risk of NIHL. Workers carrying the rs2227310GG and rs4353229CC genotype had an increased risk of NIHL compared to workers without any high-risk genotype. There were additive interaction and multiplication interaction between CASP7rs2227310 and CNE, and the same interaction between CASP7rs4353229 and CNE. The interaction between the CASP7 gene and CNE significantly increased the risk of NIHL. The genetic polymorphisms of CASP7rs2227310GG and CASP7rs4353229CC were associated with an increased risk of NIHL in Han Chinese population and have the potential to act as biomarkers for noise-exposed workers.

Heterozygous carriers of the I171V mutation of the NBS1 gene have a significantly increased risk of solid malignant tumours

2008 ◽  
Vol 44 (4) ◽  
pp. 627-630 ◽  
Author(s):  
Jerzy Nowak ◽  
Maria Mosor ◽  
Iwona Ziółkowska ◽  
Malgorzta Wierzbicka ◽  
Monika Pernak-Schwarz ◽  
...  
Keyword(s):  
Malignant Tumours ◽  
Nbs1 Gene ◽  
Increased Risk ◽  
Heterozygous Carriers ◽  
I171v Mutation

scholarly journals Dual Effects of Hearing Loss and Dementia on Functional Limitations in Older Adults

2020 ◽  
Vol 4 (Supplement_1) ◽  
pp. 214-214
Author(s):  
Michael McKee ◽  
Yunshu Zhou ◽  
Joshua Ehrlich ◽  
Elham Mahmoudi ◽  
Jennifer Deal ◽  
...  
Keyword(s):  
Older Adults ◽  
Hearing Loss ◽  
Self Care ◽  
Household Activity ◽  
Cross Sectional ◽  
Age Related ◽  
Increased Risk ◽  
Lower Mobility ◽  
Independent Effects ◽  
The Impact

Abstract Age-related hearing loss (HL) is both common and associated with elevated risk for cognitive decline and poorer health. To care for an aging population, it is critical to understand the effect of coexisting HL and dementia on functional activities. The effect of co-existing dementia and self-reported HL on daily functioning were assessed. A cross-sectional analysis was performed using nationally-representative data from the 2015 National Health and Aging Trends Study consisting of U.S. adults 65+. The sample included 1,829 adults with HL (22.8%) and 5,338 adults without HL. Multivariable Poisson regression was used to model the independent effects and interaction of self-reported HL and dementia status on three validated functional activity scales (self-care, mobility, and household). All analyses adjusted for sociodemographic and medical factors. HL participants were more likely to be white, older, male, less educated (p <0.01). 8.4% had possible dementia and 6.5% had probable dementia. Respondents with HL or possible or probable dementia had significantly lower mobility, self-care, and household activity scores (p<.001 for all comparisons) compared to their peers. A small yet significant interaction was present in all models, suggesting that HL respondents with co-occurring dementia had lower mobility, self-care, and household activity scores than predicted by the independent effects of dementia and self-reported HL (p<.001 for all comparisons). Older adults with co-occurring dementia and HL are at increased risk for poor functioning and should be screened by healthcare providers. Future work should consider the impact of intervention in this vulnerable/at-risk population.

Detecting Hearing Loss in Infants With a Syndrome or Craniofacial Abnormalities Following the Newborn Hearing Screen

2021 ◽  
pp. 1-9
Author(s):  
Philippa Horn ◽  
Carlie Driscoll ◽  
Jane Fitzgibbons ◽  
Rachael Beswick
Keyword(s):  
Hearing Loss ◽  
Trisomy 21 ◽  
Hearing Screening ◽  
Newborn Hearing Screening ◽  
Craniofacial Abnormalities ◽  
Universal Newborn Hearing Screening ◽  
Increased Risk ◽  
Newborn Hearing ◽  
Pierre Robin ◽  
Early Diagnostic

Purpose The current Joint Committee on Infant Hearing guidelines recommend that infants with syndromes or craniofacial abnormalities (CFAs) who pass the universal newborn hearing screening (UNHS) undergo audiological assessment by 9 months of age. However, emerging research suggests that children with these risk factors are at increased risk of early hearing loss despite passing UNHS. To establish whether earlier diagnostic audiological assessment is warranted for all infants with a syndrome or CFA, regardless of screening outcome, this study compared audiological outcomes of those who passed UNHS and those who referred. Method A retrospective analysis was performed on infants with a syndrome or CFA born between July 1, 2012, and June 30, 2017 who participated in Queensland, Australia's state-wide UNHS program. Results Permanent childhood hearing loss (PCHL) yield was higher among infants who referred on newborn hearing screening (51.20%) than in those who passed. Nonetheless, 27.47% of infants who passed were subsequently diagnosed with hearing loss (4.45% PCHL, 23.02% transient conductive), but PCHL was generally milder in this cohort. After microtia/atresia, the most common PCHL etiologies were Trisomy 21, other syndromes, and cleft palate. Of the other syndromes, Pierre Robin sequence featured prominently among infants who passed the hearing screen and were subsequently diagnosed with PCHL, whereas there was a broader mix of other syndromes that caused PCHL in infants who referred on screening. Conclusion Children identified with a syndrome or CFA benefit from early diagnostic audiological assessment, regardless of their newborn hearing screening outcome.

Vztah mezi presbyakuzí a poruchou kognitivních funkcí ve stáří PDF uzamčeno English info

2021 ◽  
Vol 70 (4) ◽  
pp. 223-233
Author(s):  
Jakub Fuksa ◽  
Milan Profant ◽  
Martin Chovanec ◽  
Josef Syka
Keyword(s):  
Hearing Loss ◽  
Cognitive Impairment ◽  
Hearing Aids ◽  
Cognitive Functions ◽  
Auditory Information ◽  
Ageing Population ◽  
Published Evidence ◽  
Age Related ◽  
Keywords Dementia ◽  
Increased Risk

Age-related hearing loss, presbycusis, is one of the most frequent sensory impairments in the ageing population. It is associated with pathologies of both inner ear and the central parts of the auditory system. Intact cognitive functions are necessary for the proper processing of complex auditory information. Since the beginning of the 80s, there is an increasing amount of evidence linking presbycusis to cognitive impairment and increased risk of dementia. The exact cause, which connects these two pathologies, is still unknown, although there are several hypotheses with various levels of evidence available. This review aims to describe the role of cognitive functions in the auditory processing, to summarize published evidence for a relationship between the hearing loss and cognitive impairment with a possible mechanism, which would explain this link. In addition, we discuss specific features of cognitive assessment in a person with hearing loss and describe the effect of hearing loss treatment, e. g. with hearing aids, cochlear implant and cognitive-hearing training on cognitive functions. Keywords: dementia – hearing loss – presbycusis – cognitive decline

Low vitamin D status is associated with hearing loss in the elderly: a cross-sectional study

2020 ◽  
Author(s):  
Betsy Szeto ◽  
Chris Valentini ◽  
Anil K Lalwani
Keyword(s):  
Vitamin D ◽  
Hearing Loss ◽  
Low Frequency ◽  
The Elderly ◽  
Vitamin D Status ◽  
Total Calcium ◽  
Mineral Density ◽  
Cross Sectional ◽  
Age Related ◽  
Increased Risk

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.

scholarly journals Exploring the Genotype–Phenotype Correlation in GBA-Parkinson Disease: Clinical Aspects, Biomarkers, and Potential Modifiers

2021 ◽  
Vol 12 ◽  
Author(s):  
Elisa Menozzi ◽  
Anthony H. V. Schapira
Keyword(s):  
Parkinson Disease ◽  
Progressive Disease ◽  
Clinical Aspects ◽  
Compound Heterozygous ◽  
Pathogenic Variants ◽  
Risk Variants ◽  
Increased Risk ◽  
Severe Motor ◽  
Heterozygous Carriers

Variants in the glucocerebrosidase (GBA) gene are the most common genetic risk factor for Parkinson disease (PD). These include pathogenic variants causing Gaucher disease (GD) (divided into “severe,” “mild,” or “complex”—resulting from recombinant alleles—based on the phenotypic effects in GD) and “risk” variants, which are not associated with GD but nevertheless confer increased risk of PD. As a group, GBA-PD patients have more severe motor and nonmotor symptoms, faster disease progression, and reduced survival compared with noncarriers. However, different GBA variants impact variably on clinical phenotype. In the heterozygous state, “complex” and “severe” variants are associated with a more aggressive and rapidly progressive disease. Conversely, “mild” and “risk” variants portend a more benign course. Homozygous or compound heterozygous carriers usually display severe phenotypes, akin to heterozygous “complex” or “severe” variants carriers. This article reviews genotype–phenotype correlations in GBA-PD, focusing on clinical and nonclinical aspects (neuroimaging and biochemical markers), and explores other disease modifiers that deserve consideration in the characterization of these patients.

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