The natural history, clinical outcomes, and genotype–phenotype relationship of otoferlin-related hearing loss: a systematic, quantitative literature review
CL Ford, WJ Riggs, T Quigley, OP Keifer Jr, JP Whitton… - Human Genetics, 2023 - Springer
Congenital hearing loss affects one in 500 newborns. Sequence variations in OTOF, which
encodes the calcium-binding protein otoferlin, are responsible for 1–8% of congenital …
encodes the calcium-binding protein otoferlin, are responsible for 1–8% of congenital …
Bilirubin encephalopathy
S Qian, P Kumar, FD Testai - Current Neurology and Neuroscience …, 2022 - Springer
Abstract Purpose of Review Hyperbilirubinemia is commonly seen in neonates. Though
hyperbilirubinemia is typically asymptomatic, severe elevation of bilirubin levels can lead to …
hyperbilirubinemia is typically asymptomatic, severe elevation of bilirubin levels can lead to …
Current advances in gene therapies of genetic auditory neuropathy spectrum disorder
Auditory neuropathy spectrum disorder (ANSD) refers to a range of hearing impairments
characterized by an impaired transmission of sound from the cochlea to the brain. This …
characterized by an impaired transmission of sound from the cochlea to the brain. This …
Cochlear implantation outcomes in patients with auditory neuropathy spectrum disorder of genetic and non-genetic etiologies: a multicenter study
PH Lin, HP Wu, CM Wu, YT Chiang, JS Hsu, CY Tsai… - Biomedicines, 2022 - mdpi.com
With diverse etiologies and clinical features, the management of pediatric auditory
neuropathy spectrum disorder (ANSD) is often challenging, and the outcomes of cochlear …
neuropathy spectrum disorder (ANSD) is often challenging, and the outcomes of cochlear …
Transmembrane proteins with unknown function (TMEMs) as ion channels: electrophysiological properties, structure, and pathophysiological roles
A transmembrane (TMEM) protein with an unknown function is a type of membrane-
spanning protein expressed in the plasma membrane or the membranes of intracellular …
spanning protein expressed in the plasma membrane or the membranes of intracellular …
[HTML][HTML] Cochlear implantation outcomes in post synaptic auditory neuropathies: a systematic review and narrative synthesis
D Chaudhry, A Chaudhry, J Muzaffar… - The journal of …, 2020 - ncbi.nlm.nih.gov
To establish outcomes following cochlear implantation (CI) in patients with postsynaptic
auditory neuropathy (AN). Systematic review and narrative synthesis. Databases searched …
auditory neuropathy (AN). Systematic review and narrative synthesis. Databases searched …
Cochlear implantation in children with auditory neuropathy spectrum disorder: an updated systematic review
M Sahwan, Y Abdelsamad, F Alasfoor, F Alfayez… - European Archives of …, 2024 - Springer
Background The goal of managing auditory neuropathy spectrum disorder (ANSD) is to
restore the children's ability to discriminate auditory information. Children who are not …
restore the children's ability to discriminate auditory information. Children who are not …
NADH improves AIF dimerization and inhibits apoptosis in iPSCs-derived neurons from patients with auditory neuropathy spectrum disorder
Y Qiu, H Wang, H Pan, X Ding, J Guan, Q Zhuang… - Hearing Research, 2024 - Elsevier
Auditory neuropathy spectrum disorder (ANSD) is a hearing impairment involving
disruptions to inner hair cells (IHCs), ribbon synapses, spiral ganglion neurons (SGNs) …
disruptions to inner hair cells (IHCs), ribbon synapses, spiral ganglion neurons (SGNs) …
Influence of tinnitus, lifetime noise exposure, and firearm use on hearing thresholds, distortion product otoacoustic emissions, and their relative metric
IS Bhatt, J Lichtenhan, R Tyler… - The Journal of the …, 2023 - pubs.aip.org
Distortion product otoacoustic emissions (DPOAEs) and hearing thresholds (HTs) are widely
used to evaluate auditory physiology. DPOAEs are sensitive to cochlear amplification …
used to evaluate auditory physiology. DPOAEs are sensitive to cochlear amplification …
Genotype-phenotype correlation for predicting cochlear implant outcome: Current challenges and opportunities
The use and utility of cochlear implantation has rapidly increased in recent years as
technological advances in the field have expanded both the efficacy and eligible patient …
technological advances in the field have expanded both the efficacy and eligible patient …