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BMC Medical Genomics Apr 2023Wolfram syndrome type 1 gene (WFS1), which encodes a transmembrane structural protein (wolframin), is essential for several biological processes, including proper inner...
BACKGROUND
Wolfram syndrome type 1 gene (WFS1), which encodes a transmembrane structural protein (wolframin), is essential for several biological processes, including proper inner ear function. Unlike the recessively inherited Wolfram syndrome, WFS1 heterozygous variants cause DFNA6/14/38 and wolfram-like syndrome, characterized by autosomal dominant nonsyndromic hearing loss, optic atrophy, and diabetes mellitus. Here, we identified two WFS1 heterozygous variants in three DFNA6/14/38 families using exome sequencing. We reveal the pathogenicity of the WFS1 variants based on three-dimensional (3D) modeling and structural analysis. Furthermore, we present cochlear implantation (CI) outcomes in WFS1-associated DFNA6/14/38 and suggest a genotype-phenotype correlation based on our results and a systematic review.
METHODS
We performed molecular genetic test and evaluated clinical phenotypes of three WFS1-associated DFNA6/14/38 families. A putative WFS1-NCS1 interaction model was generated, and the impacts of WFS1 variants on stability were predicted by comparing intramolecular interactions. A total of 62 WFS1 variants associated with DFNA6/14/38 were included in a systematic review.
RESULTS
One variant is a known mutational hotspot variant in the endoplasmic reticulum (ER)-luminal domain WFS1(NM_006005.3) (c.2051 C > T:p.Ala684Val), and the other is a novel frameshift variant in transmembrane domain 6 (c.1544_1545insA:p.Phe515LeufsTer28). The two variants were pathogenic, based on the ACMG/AMP guidelines. Three-dimensional modeling and structural analysis show that non-polar, hydrophobic substitution of Ala684 (p.Ala684Val) destabilizes the alpha helix and contributes to the loss of WFS1-NCS1 interaction. Also, the p.Phe515LeufsTer28 variant truncates transmembrane domain 7-9 and the ER-luminal domain, possibly impairing membrane localization and C-terminal signal transduction. The systematic review demonstrates favorable outcomes of CI. Remarkably, p.Ala684Val in WFS1 is associated with early-onset severe-to-profound deafness, revealing a strong candidate variant for CI.
CONCLUSIONS
We expanded the genotypic spectrum of WFS1 heterozygous variants underlying DFNA6/14/38 and revealed the pathogenicity of mutant WFS1, providing a theoretical basis for WFS1-NCS1 interactions. We presented a range of phenotypic traits for WFS1 heterozygous variants and demonstrated favorable functional CI outcomes, proposing p.Ala684Val a strong potential marker for CI candidates.
Topics: Humans; Wolfram Syndrome; Cochlear Implants; Cochlear Implantation; Pedigree; Hearing Loss; Deafness
PubMed: 37041640
DOI: 10.1186/s12920-023-01506-x -
Ear, Nose, & Throat Journal Apr 2023Diabetes is associated with a risk of idiopathic sudden deafness. The main treatment of diabetic sudden deafness is systemic and topical application of steroids. Topical... (Review)
Review
BACKGROUND
Diabetes is associated with a risk of idiopathic sudden deafness. The main treatment of diabetic sudden deafness is systemic and topical application of steroids. Topical steroid therapy reduces systemic adverse reactions compared with systemic therapy.
PURPOSE
The aim of this study was to conduct a meta-analysis design on the improvement value and recovery rate of pure tone mean hearing threshold (PTA).To investigate whether there is difference between local and systemic steroid treatment as the initial treatment for sudden deafness patients with diabetes.
METHODS
We searched databases from publication date to October 1, 2022 including PubMed, EMBASE, Cochrane Library, web of science, CNKI, Wan fang Database, China Biomedical Literature Database (CBM), and VIP information resource system. A systematic literature review was conducted on the efficacy and safety of local and systemic steroid therapy for diabetic sudden deafness. RevMan5.4 and stata14 software were used for Meta-analysis.
RESULTS
A total of 23 studies were included in this study, covering 1777 patients, including 885 cases in the observation group (local steroid group) and 894 cases in the control group (systemic steroid group). Meta-analysis showed that there was a significant difference in the total effective rate of local and systemic steroid treatment for diabetic sudden deafness between groups (RR = 1.17, 95% CI = 1.11-1.22, < 0.05). The effective rate in the observation group was higher than that in the control group. For the improvement of PTA, the difference between groups was statistically significant (RR = 6.60, 95% CI = 3.07-10.14, < 0.05). The improvement of PTA in the local steroid group was higher than that in the systemic steroid group. Subgroup analysis showed that there were significant differences between groups in hormones, drug administration, follow-up time and course of disease.
CONCLUSION
Topical steroid therapy is effective in the treatment of diabetic sudden deafness. Hormone methylprednisolone has high effective rate; the shorter the course of disease and the longer the follow-up time are, the higher the total effective rate will be. Tympanic injection is more effective than post-aural injection. Topical steroid injections are safer for hormonal side effect.
PubMed: 37039340
DOI: 10.1177/01455613231170090 -
Medicina (Kaunas, Lithuania) Mar 2023. Defects of mitochondrial DNA (mtDNA) involved in the function of the mitochondrial electron transport chain can result in primary mitochondrial diseases (PMDs).... (Review)
Review
. Defects of mitochondrial DNA (mtDNA) involved in the function of the mitochondrial electron transport chain can result in primary mitochondrial diseases (PMDs). Various features can influence the phenotypes of different PMDs, with relevant consequences on clinical presentation, including the presence of hearing impairment. This paper aims to describe the hearing loss related to different PMDs, and when possible, their phenotype. A systematic review was performed according to PRISMA guidelines, searching Medline until December 2022. A total of 485 papers were identified, and based on specified criteria, 7 were included in this study. A total of 759 patients affected by PMDs and hearing loss were included. The age of patients ranged from 2 days to 78 years old, and the male-to-female ratio was 1.3:1. The percentage of subjects affected by hearing loss was 40.8%, (310/759), and in most cases, hearing impairment was described as sensorineural, bilateral, symmetrical, and progressive, with different presentations depending on age and syndrome severity. . PMDs are challenging conditions with different clinical phenotypes. Hearing loss, especially when bilateral and progressive, may represent a red flag; its association with other systemic disorders (particularly neuromuscular, ocular, and endocrine) should alert clinicians, and confirmation via genetic testing is mandatory nowadays.
Topics: Male; Female; Humans; Hearing Loss, Sensorineural; Mitochondrial Diseases; Mitochondria; Hearing Loss; DNA, Mitochondrial; Deafness
PubMed: 36984609
DOI: 10.3390/medicina59030608 -
Cureus Feb 2023Otosclerosis, also known as otospongiosis, is a primary osteodystrophy of the otic capsule of the inner ear and one of the leading causes of deafness in adults. The... (Review)
Review
Otosclerosis, also known as otospongiosis, is a primary osteodystrophy of the otic capsule of the inner ear and one of the leading causes of deafness in adults. The rationale for medical therapy for otospongiosis is to slow down and eventually stop the phase of bone resorption. Conservative treatments include sodium fluoride (NaF), bisphosphonates, and other modern medicines. A systematic review of the existing and published articles and books until April 2021 has been conducted in Medscape, Google Scholar, PubMed, and other databases using appropriate terms. According to the results of the research, the administration of NaF for a period of at least six months stabilizes hearing thresholds (HTs), improves vestibular symptoms, and delays the worsening of tinnitus. The administration of bisphosphonates for a period of at least six months showed significant percentage differences in the improvement of hearing loss, dizziness, and tinnitus remission. In the already existing double-blind studies that were evaluated, groups of patients treated with bisphosphonates for at least 24 months showed greater stabilization of the mean air and bone conduction thresholds than groups of patients treated with a placebo. The new modern medications have not yet been widely administered clinically to draw useful conclusions, although the test results of some of their use are quite encouraging.
PubMed: 36923175
DOI: 10.7759/cureus.34850 -
International Journal of Environmental... Feb 2023Hand-arm vibration (HAV), which potentially causes vibration white finger (VWF), and occupational noise are serious issues in the agricultural and forestry industries.... (Review)
Review
Hand-arm vibration (HAV), which potentially causes vibration white finger (VWF), and occupational noise are serious issues in the agricultural and forestry industries. Generally, agricultural workers operate as single-family/small businesses and thus are exempted from Occupational Safety and Health Administration (OSHA) regulations/laws for noise and HAV otherwise applicable to other industries in general. The agricultural/forestry sectors are at increased risk as working hours are longer than a typical 8-h work shift putting them at greater risk of hearing loss. The study was conducted to assess the possible association between hearing sensitivity on combined exposure to noise and hand-arm vibration. A systematic literature review was conducted on exposure to noise and HAV in the agricultural/forestry sector and the resulting impacts on hearing. The peer-reviewed articles in English were searched with 14 search words in three databases of PubMed, Ergo Abstracts, and Web of Science without any filter for the year for fully available article text. The database literature search resulted in 72 articles. Forty-seven (47) articles met the search criteria based on the title. Abstracts were then reviewed for any relationship between hearing loss and hand-arm vibration/Raynaud's phenomenon/VWF. This left 18 articles. It was found that most agricultural workers and chainsaw workers are exposed to noise and VWF. Hearing is impacted by both noise and aging. The workers exposed to HAV and noise had greater hearing loss than non-exposed workers, possibly due to the additive effect on temporary threshold shift (TTS). It was found that VWF might be associated with vasospasm in the cochlea through autonomous vascular reflexes, digital arteries narrowing, vasoconstriction in the inner ear by noise, ischemic damage to the hair cells and increased oxygen demand, which significantly affects the correlation between VWF and hearing loss.
Topics: Humans; Forestry; Occupational Diseases; Vibration; Farmers; von Willebrand Factor; Hearing Loss; Deafness; Hearing; Occupational Exposure
PubMed: 36901285
DOI: 10.3390/ijerph20054276 -
European Review For Medical and... Feb 2023Noise is still today one of the main causes of occupational diseases; in fact, in Italy in the three-year period 2019-2022, hearing loss represented 15% of all...
OBJECTIVE
Noise is still today one of the main causes of occupational diseases; in fact, in Italy in the three-year period 2019-2022, hearing loss represented 15% of all occupational diseases recognized by the National Institute for Insurance against Accidents at Work. The extra-auditory effects related to noise exposure also require particular attention, because they can interfere with mental activities that require concentration, memory and ability to deal with complex problems, causing sleep and learning disorders. For this reason, acoustic comfort is considered a fundamental requirement for obtaining an optimal degree of well-being in closed environments. In schools, a high degree of noise pollution not only makes it difficult for students to listen and learn, but also affects school workers. The aim of this study was to perform a systematic review of international literature and analysis of the preventive measures of extra-auditory effects among school workers.
MATERIALS AND METHODS
The presentation of this systematic review is in accordance with the PRISMA statement. The methodological quality of the selected studies was assessed with specific rating tools (INSA, Newcastle Ottawa Scale, JADAD, JBI scale and AMSTAR). Only publications in English were selected. No restrictions were applied for the publication type. We excluded articles not concerned with the extra-auditory effects of noise exposure in school workers and preventive measures, findings of less academic significance, editorial articles, individual contributions, and purely descriptive studies published in scientific conferences.
RESULTS
Online research indicated 4,363 references: PubMed (2,319), Scopus (1,615) and Cochrane Library (429) have been consulted; 30 studies were included in this review (5 narrative or systematic reviews and 25 original articles). Regarding the scores of narrative reviews, the INSA score showed an average and a median value of 6.5, thus indicating an intermediate/high quality of the studies. Regarding the scores of systematic reviews, the AMSTAR score showed an average of 6.7 and a median and a modal value of 6, thus indicating a high quality of the studies. The scores assigned to the original articles have an average and median value of 7 and a modal value of 6 and this demonstrates an intermediate/high quality of the studies.
CONCLUSIONS
We can assume that, as it is highlighted by this study, to date these consequences are not considered at the legislative level for the protection of exposed workers. The extra-auditory effects impacting health afterward environmental noise exposure are many and widespread. Therefore, there is a need for interventions to be carried out by institutions and that the physician of the schools, during health surveillance, investigates the effects and clinical manifestations, in order to prevent disorders and deficits highlighted by our study.
Topics: Humans; Deafness; Environmental Exposure; Occupational Diseases; Schools
PubMed: 36876686
DOI: 10.26355/eurrev_202302_31386 -
Trends in Hearing 2023This systematic review examined the audiological and nonaudiological factors that influence hearing help-seeking and hearing aid uptake in adults with hearing loss based... (Review)
Review
This systematic review examined the audiological and nonaudiological factors that influence hearing help-seeking and hearing aid uptake in adults with hearing loss based on the literature published during the last decade. Peer-reviewed articles published between January 2011 and February 2022 were identified through systematic searches in electronic databases CINAHL, PsycINFO, and MEDLINE. The review was conducted and reported according to the PRISMA protocol. Forty-two articles met the inclusion criteria. Seventy (42 audiological and 28 nonaudiological) hearing help-seeking factors and 159 (93 audiological and 66 nonaudiological) hearing aid uptake factors were investigated with many factors reported only once (10/70 and 62/159, respectively). Hearing aid uptake had some strong predictors (e.g., hearing sensitivity) with others showing conflicting results (e.g., self-reported health). Hearing help-seeking had clear nonpredictive factors (e.g., education) and conflicting factors (e.g., self-reported health). New factors included cognitive anxiety associated with increased help-seeking and hearing aid uptake and urban residency and access to financial support with hearing aid uptake. Most studies were rated as having a low level of evidence (67%) and fair quality (86%). Effective promotion of hearing help-seeking requires more research evidence. Investigating factors with conflicting results and limited evidence is important to clarify what factors support help-seeking and hearing aid uptake in adults with hearing loss. These findings can inform future research and hearing health promotion and rehabilitation practices.
Topics: Humans; Adult; Hearing Aids; Hearing; Hearing Loss; Deafness
PubMed: 36798964
DOI: 10.1177/23312165231157255 -
Survey of Ophthalmology 2023Wolfram-like syndrome (WFLS) is a recently described autosomal dominant disorder with phenotypic similarities to autosomal recessive Wolfram syndrome (WS), including... (Review)
Review
Wolfram-like syndrome (WFLS) is a recently described autosomal dominant disorder with phenotypic similarities to autosomal recessive Wolfram syndrome (WS), including optic atrophy, hearing impairment, and diabetes mellitus. We summarize current literature, define the clinical characteristics, and investigate potential genotype phenotype correlations. A systematic literature search was conducted in electronic databases Pubmed/MEDLINE, EMBACE, and Cochrane Library. We included studies reporting patients with a clinical picture consisting at least 2 typical clinical manifestations of WSF1 disorders and heterozygous mutations in WFS1. In total, 86 patients from 35 studies were included. The most common phenotype consisted of the combination of optic atrophy (87%) and hearing impairment (94%). Diabetes mellitus was seen in 44% of the patients. Nineteen percent developed cataract. Patients with missense mutations in WFS1 had a lower number of clinical manifestations, less chance of developing diabetes insipidus, but a younger age at onset of hearing impairment compared to patients with nonsense mutations or deletions causing frameshift. There were no studies reporting decreased life expectancy. This review shows that, within the spectrum of WFS1-associated disorders or "wolframinopathies," autosomal dominantly inherited WFLS has a relatively mild phenotype compared to autosomal recessive WS. The clinical manifestations and their age at onset are associated with the specific underlying mutations in the WFS1 gene.
Topics: Humans; Hearing Loss; Mutation; Optic Atrophy; Tungsten; Wolfram Syndrome
PubMed: 36764396
DOI: 10.1016/j.survophthal.2023.01.012 -
BMJ Paediatrics Open Jan 2023Early hearing detection and intervention (EHDI) measures initiated in high-income countries (HICs) were attempted in low-income and middle-income countries (L&MICs)....
BACKGROUND
Early hearing detection and intervention (EHDI) measures initiated in high-income countries (HICs) were attempted in low-income and middle-income countries (L&MICs). However, information regarding the models of EHDI, context-specific adaptations made to strategies and outcomes are not known.
AIMS
The aims of this systematic review were to identify the various models of EHDI used in Asian L&MICs in the published scientific literature and to describe their efficacy and validity.
METHODS
The studies were eligible if the programme was from Asian L&MICs, implemented for children below 6 years of age and published between 2010 and 2021. Google Scholar, PubMed, Web of Science, Scopus, EBSCOHost and EBSCO-CINAHL were used to find articles. Data were extracted from each selected article, and the risk of bias was assessed. The search results were summarised using the Preferred Reporting Items for Systematic Reviews and Meta-Analyses flow diagram. For primary outcomes, narrative synthesis was used, and forest plots were generated for secondary outcomes.
RESULTS
In all, 82 studies were included, and these studies were divided into two categories: newborn and infant screening programmes and screening programmes for older children. Predominantly, a two-stage objective otoacoustic emission (Distortion Product/Transient Evoked) or automated auditory brainstem response screening, followed by a detailed auditory brainstem response to confirm the hearing loss, was used in newborn and infant screening programmes. Audiologists were the most frequent screening personnel. Screening of older children was mostly done by otolaryngologists, school instructors and nurses. They performed a single-stage pure tone audiometry screening followed by a detailed examination.
CONCLUSION
The screening tools and protocols used were similar to those used in HICs. However, no uniform protocols were followed within each country. Long-term viability of EHDI programmes was not known as there was limited information on impact outcomes such as cost-benefit.
PROSPERO REGISTRATION NUMBER
CRD42021240341.
Topics: Infant, Newborn; Infant; Humans; Child; Adolescent; Child, Preschool; Developing Countries; Hearing Loss; Asia; Otoacoustic Emissions, Spontaneous; Audiometry, Pure-Tone
PubMed: 36720503
DOI: 10.1136/bmjpo-2022-001752 -
PloS One 2023Growing evidence suggests that alcohol consumption is a risk factor for hearing loss; however, the evidence has been inconsistent. This systematic review and... (Meta-Analysis)
Meta-Analysis
OBJECTIVE
Growing evidence suggests that alcohol consumption is a risk factor for hearing loss; however, the evidence has been inconsistent. This systematic review and meta-analysis aimed to evaluate the effect of alcohol consumption on hearing loss.
METHODS
We searched several databases up to November 2021, for published articles using the keywords "alcohol drinking" and "hearing loss". Two investigators independently conducted the study selection and data extraction. Based on the results of the heterogeneity analysis (Q statistic and I2 statistic), a fixed- or random-effects model was used to calculate the pooled odds ratios (ORs). Subgroup and sensitivity analyses were performed to assess the potential sources of heterogeneity and robustness of the pooled estimation. Publication bias in the literature was evaluated using Egger's test.
RESULTS
In total, 18 (9 cross-sectional, 5 case-control, and 4 cohort) observational studies were identified in this search; 27,849 participants were included. Compared with non-drinkers, the pooled OR of drinkers was 1.22 (95% confidence interval: 1.09-1.35).
CONCLUSION
Evidence suggests a positive association between alcohol consumption and hearing loss. Drinkers were at a higher risk than non-drinkers. Drinking limitations may be useful for preventing hearing loss.
Topics: Humans; Cross-Sectional Studies; Risk Factors; Alcohol Drinking; Hearing Loss; Deafness; Hearing
PubMed: 36662896
DOI: 10.1371/journal.pone.0280641