Results 31 to 40 of about 74,884 (346)

Hearing disorders in Turner’s syndrome [PDF]

open access: yes, 2016
Introduction: Turner’s Syndrome (TS) is associated with hearing disorders in about 20 to 50% of affected individuals. The most common hearing disorders include congenital auricular malformations, recurrent otitis media and sensorineural hearing loss ...
CIANFRONE, Giancarlo   +2 more
core   +1 more source

Pseudoexfoliation and sensorineural hearing loss [PDF]

open access: yesEye, 2002
There is increasing evidence that pseudoexfoliation (PXF) not only affects ocular anterior segment structures, but may also be a systemic disease. This study was undertaken to assess the relationship between PXF and sensorineural hearing loss.Patients with PXF were identified from hospital records and underwent complete ocular examination.
A Early   +4 more
openaire   +2 more sources

Biallelic pathogenic variants in COX11 are associated with an infantile‐onset mitochondrial encephalopathy

open access: yesHuman Mutation, Volume 43, Issue 12, Page 1970-1978, December 2022., 2022
Abstract Primary mitochondrial diseases are a group of genetically and clinically heterogeneous disorders resulting from oxidative phosphorylation (OXPHOS) defects. COX11 encodes a copper chaperone that participates in the assembly of complex IV and has not been previously linked to human disease. In a previous study, we identified that COX11 knockdown
Rocio Rius   +15 more
wiley   +1 more source

Dynamic Processing Neural Network Architecture For Hearing Loss Compensation [PDF]

open access: yesarXiv, 2023
This paper proposes neural networks for compensating sensorineural hearing loss. The aim of the hearing loss compensation task is to transform a speech signal to increase speech intelligibility after further processing by a person with a hearing impairment, which is modeled by a hearing loss model.
arxiv  

NICU Infants & SNHL: Experience of a western Sicily tertiary care centre [PDF]

open access: yes, 2019
Introduction: The variability of symptoms and signs caused by central nervous system (CNS) lesions make multiple sclerosis difficult to recognize,Introduction: This study adds the evaluation of the independent etiologic factors that may play a role in ...
Abita P   +6 more
core   +1 more source

Destabilization of mutated human PUS3 protein causes intellectual disability

open access: yesHuman Mutation, Volume 43, Issue 12, Page 2063-2078, December 2022., 2022
The homodimer of pseudouridine synthase 3 converts uridines at position 39 in tRNAs to pseudouridine (ψ), which affects tRNA stability and regulates RNA–protein interactions. Several patient‐derived variants of PUS3 have been associated with neurodegenerative diseases.
Ting‐Yu Lin   +17 more
wiley   +1 more source

Optimal management of Cogan’s syndrome: a multidisciplinary approach [PDF]

open access: yes, 2017
Cogan's syndrome (CS) is a rare disorder characterized by nonsyphilitic interstitial keratitis (IK) and audio-vestibular symptoms. CS affects mainly young Caucasian adults, mostly during their first three decades of age, and may develop into typical and ...
D'Aguanno, Vittorio   +3 more
core   +1 more source

Sensorineural hearing loss in children

open access: yesThe Lancet, 2005
During the past three to four decades, the incidence of acquired sensorineural hearing loss (SNHL) in children living in more developed countries has fallen, as a result of improved neonatal care and the widespread implementation of immunisation programmes.
Smith, R. J.   +2 more
openaire   +4 more sources

Fluctuating Sensorineural Hearing Loss [PDF]

open access: yesAudiology and Neurotology, 2019
<b><i>Background:</i></b> Several otologic conditions can present with fluctuating sensorineural hearing loss, including Ménière’s disease, autoimmune inner ear disease, and enlarged vestibular aqueduct. Although these 3 etiologies vary greatly, distinguishing between these conditions at initial presentation can be challenging ...
Hui Liu   +3 more
openaire   +3 more sources

Efficacy and Safety of Parathyroid Hormone Replacement With TransCon PTH in Hypoparathyroidism: 26‐Week Results From the Phase 3 PaTHway Trial

open access: yesJournal of Bone and Mineral Research, Volume 38, Issue 1, Page 14-25, January 2023., 2023
TransCon PTH is an investigational once‐daily prodrug providing sustained release of active PTH designed to maintain stable PTH levels in the physiological range for 24 hours/day. The PaTHway trial met all primary and key secondary endpoints with statistically significant differences from placebo. Most adverse events (AEs) were mild/moderate. Injection‐
Aliya A Khan   +19 more
wiley   +1 more source

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