Enrichment capture methods for NGS are widely used, however, they evolve rapidly and it is necessary to periodically measure their strengths and weaknesses before transfer to diagnostic services. We ...assessed two recently released custom DNA solution-capture enrichment methods for NGS, namely Illumina NRCCE and Agilent SureSelect(QXT), against a reference method NimbleGen SeqCap EZ Choice on a similar gene panel, sharing 678 kb and 110 genes. Two Illumina MiSeq runs of 12 samples each have been performed, for each of the three methods, using the same 24 patients (affected with sensorineural disorders). Technical outcomes have been computed and compared, including depth and evenness of coverage, enrichment in targeted regions, performance in GC-rich regions and ability to generate consistent variant datasets. While we show that the three methods resulted in suitable datasets for standard DNA variant discovery, we describe significant differences between the results for the above parameters. NimbleGen offered the best depth of coverage and evenness, while NRCCE showed the highest on target levels but high duplicate rates. SureSelect(QXT) showed an overall quality close to that of NimbleGen. The new methods exhibit reduced preparation time but behave differently. These findings will guide laboratories in their choice of library enrichment approach.
Growth hormone (GH) plays an important role in auditory development during the embryonic stage. Exogenous agents such as sound, noise, drugs or trauma, can induce the release of this hormone to ...perform a protective function and stimulate other mediators that protect the auditory pathway. In addition, GH deficiency conditions hearing loss or central auditory processing disorders. There are promising animal studies that reflect a possible regenerative role when exogenous GH is used in hearing impairments, demonstrated in in vivo and in vitro studies, and also, even a few studies show beneficial effects in humans presented and substantiated in the main text, although they should not exaggerate the main conclusions.
Epigenetic regulation of gene expression has been shown to change over time and may be associated with environmental exposures in common complex traits. Age-related hearing impairment is a complex ...disorder, known to be heritable, with heritability estimates of 57-70%. Epigenetic regulation might explain the observed difference in age of onset and magnitude of hearing impairment with age. Epigenetic epidemiology studies using unrelated samples can be limited in their ability to detect small effects, and recent epigenetic findings in twins underscore the power of this well matched study design. We investigated the association between venous blood DNA methylation epigenome-wide and hearing ability. Pure-tone audiometry (PTA) and Illumina HumanMethylation array data were obtained from female twin volunteers enrolled in the TwinsUK register. Two study groups were explored: first, an epigenome-wide association scan (EWAS) was performed in a discovery sample (n=115 subjects, age range: 47-83 years, Illumina 27 k array), then replication of the top ten associated probes from the discovery EWAS was attempted in a second unrelated sample (n=203, age range: 41-86 years, Illumina 450 k array). Finally, a set of monozygotic (MZ) twin pairs (n = 21 pairs) within the discovery sample (Illumina 27 k array) was investigated in more detail in an MZ discordance analysis. Hearing ability was strongly associated with DNA methylation levels in the promoter regions of several genes, including TCF25 (cg01161216, p = 6.6 × 10(-6)), FGFR1 (cg15791248, p = 5.7 × 10(-5) and POLE (cg18877514, p= 6.3 × 10(-5)). Replication of these results in a second sample confirmed the presence of differential methylation at TCF25 (p(replication)=6 × 10(-5)) and POLE (p(replication) =0.016). In the MZ discordance analysis, twins' intrapair difference in hearing ability correlated with DNA methylation differences at ACP6 (cg01377755, r= -0.75, p=1.2 × 10(-4)) and MEF2D (cg08156349, r= -0.75, p=1.4 × 10(-4)). Examination of gene expression in skin, suggests an influence of differential methylation on expression, which may account for the variation in hearing ability with age.
Celotno besedilo
Dostopno za:
DOBA, IZUM, KILJ, NUK, PILJ, PNG, SAZU, SIK, UILJ, UKNU, UL, UM, UPUK
Hearing loss (HL) is prevalent and relates to social health in old age. This study aims to examine the association between functional HL and social well-being (SWB) in older adults and to investigate ...whether psychological resilience mediates this association.
The analytical sample of 4,531 older adults aged ≥ 60 years was from the Sample Survey on Vulnerable Populations from Poor Families in Urban/Rural China (2018). SWB was measured by social networks and social engagement using the Lubben Social Network Scale and Index of Social Engagement Scale, respectively. Functional hearing impairment was defined by a dichotomized measure of self-perceived hearing difficulty. Psychological resilience was assessed by a 25-item Connor-Davidson Resilience Scale. Structural equation modeling was performed to determine associations of HL with SWB and the mediating roles of psychological resilience.
Functional HL was associated with reduced SWB among older adults living in low-income households. Hearing-impaired individuals were more likely to be socially isolated and less socially engaged compared to those with normal hearing. The association persisted in gender subsamples and in non-low-income households but not in older adults aged ≥ 70 years. Psychological resilience partially mediated the association of hearing impairment with SWB, accounting for 50.9% of the variance in the change of SWB.
Functional hearing impairment may be a modifiable risk factor for social restrictions and downstream older adults' health. Promotion of hearing health care and accessibility to coping resources including psychological support may improve social wellness among the older adults and benefit healthy aging.
https://doi.org/10.23641/asha.22750736.
Celotno besedilo
Dostopno za:
DOBA, IZUM, KILJ, NUK, OILJ, PILJ, PNG, SAZU, SIK, UILJ, UKNU, UL, UM, UPUK, VSZLJ
Nonsyndromic Hereditary Hearing Loss is a common disorder accounting for at least 60% of prelingual deafness. GJB2 gene mutations, GJB6 deletion, and the A1555G mitochondrial mutation play a major ...role worldwide in causing deafness, but there is a high degree of genetic heterogeneity and many genes involved in deafness have not yet been identified. Therefore, there remains a need to search for new causative mutations. In this study, a combined strategy using both linkage analysis and sequencing identified a new mutation causing hearing loss. Linkage analysis identified a region of 40 Mb on chromosome 5q13 (LOD score 3.8) for which exome sequencing data revealed a mutation (c.7873 T>G leading to p.*2625Gluext*11) in the BDP1 gene (B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB) in patients from a consanguineous Qatari family of second degree, showing bilateral, post-lingual, sensorineural moderate to severe hearing impairment. The mutation disrupts the termination codon of the transcript resulting in an elongation of 11 residues of the BDP1 protein. This elongation does not contain any known motif and is not conserved across species. Immunohistochemistry studies carried out in the mouse inner ear showed Bdp1 expression within the endothelial cells in the stria vascularis, as well as in mesenchyme-derived cells surrounding the cochlear duct. The identification of the BDP1 mutation increases our knowledge of the molecular bases of Nonsyndromic Hereditary Hearing Loss and provides new opportunities for the diagnosis and treatment of this disease in the Qatari population.
Celotno besedilo
Dostopno za:
DOBA, IZUM, KILJ, NUK, PILJ, PNG, SAZU, SIK, UILJ, UKNU, UL, UM, UPUK
High perceptual load in a task is known to reduce the visual perception of unattended items (e.g., Lavie, Beck, & Konstantinou,
2014
). However, it remains an open question whether perceptual load in ...one modality (e.g., vision) can affect the detection of stimuli in another modality (e.g., hearing). We report four experiments that establish that high visual perceptual load leads to reduced detection sensitivity in hearing. Participants were requested to detect a tone that was presented during performance of a visual search task of either low or high perceptual load (varied through item similarity). The findings revealed that auditory detection sensitivity was consistently reduced with higher load, and that this effect persisted even when the auditory detection response was made first (before the search response) and when the auditory stimulus was highly expected (50 % present). These findings demonstrate a phenomenon of load-induced deafness and provide evidence for shared attentional capacity across vision and hearing.
AbstractConclusions: Specific requests for cochlear implantations by persons with psychogenic hearing loss are a relatively new phenomenon. A number of features seems to be over-represented in this ...group of patients. The existence of these requests stresses the importance of auditory brainstem response (ABR) measurements before cochlear implantation. Objective: To describe the phenomenon of patients with psychogenic hearing losses specifically requesting cochlear implantation, and to gain first insights into the characteristics of this group. Methods: Analysis of all cases seen between 2004 and 2013 at the University Hospital of Bern, Switzerland. Results: Four cochlear implant candidates with psychogenic hearing loss were identified. All were female, aged 23-51 years. Hearing thresholds ranged from 86 dB to 112 dB HL (pure-tone average 500-4000 Hz). ABRs and otoacoustic emissions (OAEs) showed bilaterally normal hearing in two subjects, and hearing thresholds between 30 and 50 dB in the other two subjects. Three subjects suffered from depression and one from a pathologic fear of cancer. Three had a history of five or more previous surgeries. Three were smokers and three reported other close family members with hearing losses. All four were hearing aid users at the time of presentation.
Celotno besedilo
Dostopno za:
DOBA, IJS, IZUM, KILJ, NUK, OILJ, PILJ, PNG, SAZU, UILJ, UKNU, UL, UM, UPUK, VSZLJ
8.
Hearing aid affordability in the United States Jilla, Anna Marie; Johnson, Carole E.; Huntington-Klein, Nick
Disability and rehabilitation: Assistive technology,
04/2023, Letnik:
18, Številka:
3
Journal Article
Recenzirano
Substantial out-of-pocket costs for hearing aids constitute a barrier to hearing health care accessibility for older adults among whom prevalence of hearing loss is high. This study is the first to ...estimate the proportion of Americans with functional hearing loss for which out-of-pocket expenditures for hearing aids would be unaffordable at current average costs and determine how affordability varies by sociodemographic factors.
We utilized data from the 2016 American Community Survey to determine the proportion of adults with functional hearing loss for whom hearing aids would constitute ≥3% of annual income or have post-purchase income below a poverty standard. Chi-square tests were used to identify differences in affordability outcomes by sociodemographic characteristics.
Results indicated that an average bundled cost of $2500 would constitute a catastrophic expense for 77% of Americans with functional hearing loss (N = 7,872,292) and would add an additional 4% of the population into poverty for the year (N = 423,548). Affordability outcomes varied significantly by age, race, sex, educational attainment and geographic location.
Hearing aids were unaffordable for three-fourths of Americans with functional hearing loss, and their purchase would result in impoverishment for hundreds of thousands of individuals. Reductions in out-of-pocket hearing aid costs to $500 or $1000 would alleviate affordability issues for many Americans with hearing loss. Future federal and state policy should address poor rates of insurance coverage for hearing care, specifically among Medicare and Medicaid, to reduce out-of-pocket costs for hearing care particularly for older adults.
Implications for rehabilitation
An average out-of-pocket hearing care cost of $2500 was unaffordable for over three quarters of Americans with functional hearing loss.
Hearing care affordability varied significantly by demographic characteristics such as age, sex, gender, educational attainment and geographic region.
Affordability constitutes a significant barrier to hearing care accessibility in the United States, where most costs of hearing aids and rehabilitation are statutorily excluded from insurance coverage, including the largest insurer of Americans, Medicare.
MicroRNAs are a class of important post-transcriptional regulators. Genetic and somatic mutations in miRNAs, especially those in the seed regions, have profound and broad impacts on gene expression ...and physiological and pathological processes. Over 500 SNPs were mapped to the miRNA seeds, which are located at position 2–8 of the mature miRNA sequences. We found that the central positions of the miRNA seeds contain fewer genetic variants and therefore are more evolutionary conserved than the peripheral positions in the seeds. We developed a knowledge-based method to analyse the functional impacts of mutations in miRNA seed regions. We computed the gene ontology-based similarity score GOSS and the GOSS percentile score for all 517 SNPs in miRNA seeds. In addition to the annotation of SNPs for their functional effects, in the present article we also present a detailed analysis pipeline for finding the key functional changes for seed SNPs. We performed a detailed gene ontology graph-based analysis of enriched functional categories for miRNA target gene sets. In the analysis of a SNP in the seed region of hsa-miR-96 we found that two key biological processes for progressive hearing loss ‘Neurotrophin TRK receptor signaling pathway’ and ‘Epidermal growth factor receptor signaling pathway’ were significantly and differentially enriched by the two sets of allele-specific target genes of miRNA hsa-miR-96.
PDF
