- Cochlear dead regions: Using the Threshold Equalising Noise (TEN) test to improve the assessment of potential cochlear implant candidates - The Oxford experience. [Journal Article]
- COClin Otolaryngol 2018 Feb 24
- The Threshold Equalising Noise (TEN) test can be used to detect cochlear dead regions Patients with cochlear dead regions may gain limited benefit from conventional amplification The TEN test can be ...
The Threshold Equalising Noise (TEN) test can be used to detect cochlear dead regions Patients with cochlear dead regions may gain limited benefit from conventional amplification The TEN test can be used to assess selected cochlear implant candidates who do not meet pure tone audiometry criteria for implantation Our patients with cochlear dead regions had good outcomes following cochlear implantation This article is protected by copyright. All rights reserved.
- A mouse model of miR-96, miR-182 and miR-183 misexpression implicates miRNAs in cochlear cell fate and homeostasis. [Journal Article]
- SRSci Rep 2018 Feb 23; 8(1):3569
- Germline mutations in Mir96, one of three co-expressed polycistronic miRNA genes (Mir96, Mir182, Mir183), cause hereditary hearing loss in humans and mice. Transgenic FVB/NCrl- Tg(GFAP-Mir183,Mir96,M...
Germline mutations in Mir96, one of three co-expressed polycistronic miRNA genes (Mir96, Mir182, Mir183), cause hereditary hearing loss in humans and mice. Transgenic FVB/NCrl- Tg(GFAP-Mir183,Mir96,Mir182)MDW1 mice (Tg1MDW), which overexpress this neurosensory-specific miRNA cluster in the inner ear, were developed as a model system to identify, in the aggregate, target genes and biologic processes regulated by the miR-183 cluster. Histological assessments demonstrate Tg1MDW/1MDWhomozygotes have a modest increase in cochlear inner hair cells (IHCs). Affymetrix mRNA microarray data analysis revealed that downregulated genes in P5 Tg1MDW/1MDWcochlea are statistically enriched for evolutionarily conserved predicted miR-96, miR-182 or miR-183 target sites. ABR and DPOAE tests from 18 days to 3 months of age revealed that Tg1MDW/1MDWhomozygotes develop progressive neurosensory hearing loss that correlates with histologic assessments showing massive losses of both IHCs and outer hair cells (OHCs). This mammalian miRNA misexpression model demonstrates a potency and specificity of cochlear homeostasis for one of the dozens of endogenously co-expressed, evolutionally conserved, small non-protein coding miRNA families. It should be a valuable tool to predict and elucidate miRNA-regulated genes and integrated functional gene expression networks that significantly influence neurosensory cell differentiation, maturation and homeostasis.
- A New Case of Chanarin-Dorfman Syndrome with a Novel Deletion in ABHD5 Gene [Journal Article]
- IBIran Biomed J 2018 Feb 24
- Chanarin-Dorfman syndrome (CDS) is a rare autosomal recessive metabolic disorder caused by mutations in gene encoding the domain-5 of α/β-hydrolase enzyme (ABHD5). It is known as a natural lipid stor...
Chanarin-Dorfman syndrome (CDS) is a rare autosomal recessive metabolic disorder caused by mutations in gene encoding the domain-5 of α/β-hydrolase enzyme (ABHD5). It is known as a natural lipid storage disorder arising from impaired lipid metabolism often characterized by hepatomegaly, myopathy, ataxia, non-bullous ichthyosiform erythroderma, hearing loss, and mental retardation. In the present study, we report two affected 28-month-old monozygotic twin boys as a new case of CDS. Genetic analysis was performed in patients, and the results showed a homozygote deletion in exon 4 of ABHD5. According to the the American College of Medical Genetics and Genomics, this variant is categorized as a pathogenic variant.
- The Turkish Neonatal Jaundice Online Registry: A national root cause analysis. [Journal Article]
- PlosPLoS One 2018; 13(2):e0193108
- CONCLUSIONS: Severe NNJ and bilirubin encephalopathy are still problems in Turkey. Means of identifying at-risk newborns before discharge during routine postnatal care, such as bilirubin monitoring, blood group analysis, and lactation consultations, would reduce the frequency of short- and long-term complications of severe NNJ.
- An Update on Phosphodiesterase Mutations Underlying Genetic Etiology of Hearing Loss and Retinitis Pigmentosa. [Journal Article]
- FGFront Genet 2018; 9:9
- A novel de novo CAPN5 mutation in a patient with inflammatory vitreoretinopathy, hearing loss, and developmental delay. [Journal Article]
- CSCold Spring Harb Mol Case Stud 2018 Feb 22
- Mutations that activate the protease calpain-5 (CAPN5) cause a non-syndromic adult-onset autoinflammatory eye disease characterized by uveitis, altered synaptic signaling, retinal degeneration, neova...
Mutations that activate the protease calpain-5 (CAPN5) cause a non-syndromic adult-onset autoinflammatory eye disease characterized by uveitis, altered synaptic signaling, retinal degeneration, neovascularization, and intraocular fibrosis. We describe a pediatric patient with severe inflammatory vitreoretinopathy accompanied by hearing loss and developmental delay associated with a novel, de novo CAPN5 missense mutation (c.865C>T, p.Arg289Trp) that shows greater hyperactivation of the calpain protease, indicating a genotype-phenotype correlation that links mutation severity to proteolytic activity and the possibility of earlier onset syndromic disease with auditory and neurological abnormalities.
- Age and Other Factors Affecting the Outcome of AABR Screening in Neonates. [Journal Article]
- HPHosp Pediatr 2018 Feb 22
- CONCLUSIONS: Among healthy newborns, delaying AABR screening in the first 48 hours minimized failure rates. SNHL was 6 times as likely in infants who failed their final screening at ≥48 hours compared with those who were screened at <48 hours of age. In our study, we offer guidance for nursery directors and audiologists who determine hearing screening protocols and counsel families about results.
- Neurophysiology of hearing in patients with mucopolysaccharidosis type IV. [Journal Article]
- MGMol Genet Metab 2018 Feb 08
- CONCLUSIONS: The strong correlation between reduced height and hearing loss indicates that patients with severe skeletal dysplasia may be at higher risk of developing more severe hearing loss. More importantly, the spectrum of hearing disorders indicates that MPS IV patients should have annual neurophysiological hearing tests in addition to audiometric testing from an early age regardless of their skeletal severity to more carefully monitor disease progression.
- Computational modeling of the human auditory periphery: Auditory-nerve responses, evoked potentials and hearing loss. [Review]
- HRHear Res 2017 Dec 28
- Models of the human auditory periphery range from very basic functional descriptions of auditory filtering to detailed computational models of cochlear mechanics, inner-hair cell (IHC), auditory-nerv...
Models of the human auditory periphery range from very basic functional descriptions of auditory filtering to detailed computational models of cochlear mechanics, inner-hair cell (IHC), auditory-nerve (AN) and brainstem signal processing. It is challenging to include detailed physiological descriptions of cellular components into human auditory models because single-cell data stems from invasive animal recordings while human reference data only exists in the form of population responses (e.g., otoacoustic emissions, auditory evoked potentials). To embed physiological models within a comprehensive human auditory periphery framework, it is important to capitalize on the success of basic functional models of hearing and render their descriptions more biophysical where possible. At the same time, comprehensive models should capture a variety of key auditory features, rather than fitting their parameters to a single reference dataset. In this study, we review and improve existing models of the IHC-AN complex by updating their equations and expressing their fitting parameters into biophysical quantities. The quality of the model framework for human auditory processing is evaluated using recorded auditory brainstem response (ABR) and envelope-following response (EFR) reference data from normal and hearing-impaired listeners. We present a model with 12 fitting parameters from the cochlea to the brainstem that can be rendered hearing impaired to simulate how cochlear gain loss and synaptopathy affect human population responses. The model description forms a compromise between capturing well-described single-unit IHC and AN properties and human population response features.
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- Examination of Previously Published Data to Identify Patterns in the Social Representation of 'Hearing Aids' Across Countries. [Journal Article]
- JAJ Audiol Otol 2018 Feb 26
- CONCLUSIONS: The study provides us with unique insights into the perception of hearing aids by the general public, and additionally, the way demographic variables may influence these perceptions.