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 …

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 …

Current advances in gene therapies of genetic auditory neuropathy spectrum disorder

AR Saidia, J Ruel, A Bahloul, B Chaix, F Venail… - Journal of Clinical …, 2023 - mdpi.com
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 …

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 …

Transmembrane proteins with unknown function (TMEMs) as ion channels: electrophysiological properties, structure, and pathophysiological roles

H Kang, CJ Lee - Experimental & Molecular Medicine, 2024 - nature.com
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 …

[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 …

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 …

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) …

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 …

Genotype-phenotype correlation for predicting cochlear implant outcome: Current challenges and opportunities

AA Eshraghi, SP Polineni, C Davies, D Shahal… - Frontiers in …, 2020 - frontiersin.org
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 …