Results 181 to 190 of about 149,128 (273)
Journal of the Association for Research in Otolaryngology, 2018 L. Carney
semanticscholar +1 more source
Unraveling the Role of WDR91: Case Report of a Previously Unrecognized Clinical Entity
Clinical Genetics, EarlyView.A novel case is herein described to expand the genetic and clinical spectrum of WDR91 and characterize a previously unrecognized autosomal recessive neurodevelopmental disorder. WDR91 deficiency results in neuronal loss, cortical thinning, and impaired brain development.
Nikolaos M. Marinakis +14 more
wiley +1 more source
Novel Pathogenic Variant Confirms the Association of REST and Jones Syndrome
Clinical Genetics, EarlyView.Jones syndrome (JS) is an ultra‐rare condition characterized by gingival fibromatosis and progressive sensorineural hearing loss. It has been associated with a pathogenic REST exon‐5 variant (c.2670_2673del) in a Finnish family. We describe the first Italian family with JS in which a novel pathogenic REST exon‐5 variant (c.2645T>G) was identified ...
Valentina Lodato +15 more
wiley +1 more source
The Usefulness of ETDQ‐7 Score in Assessing ETD
Clinical Otolaryngology, EarlyView.ABSTRACT Introduction The ETDQ‐7 questionnaire has been validated for diagnosing Eustachian tube dysfunction (ETD) and a minimal clinically important difference (MCID) of > 3.5 has been suggested. We aim to assess the use of ETDQ‐7 for assessing ETD and a potential correlation between ETDQ‐7 and the Sino‐Nasal Outcome Test 22 (SNOT‐22). Methods ETD was
Niels Højvang Holm, Therese Ovesen
wiley +1 more source
Adverse Effects of Steroid Therapy in Sudden Sensorineural Hearing Loss: A Scoping Review
Clinical Otolaryngology, EarlyView.ABSTRACT Objective Sudden sensorineural hearing loss (SSNHL) is an otologic emergency and is treated with steroid therapy. Despite adverse events (AEs) associated with long‐term steroid use being well evidenced, there is sparsity of literature regarding the AEs of short‐course prescriptions in the SSNHL cohort, which limits the quality of patient ...
M. Achanta +5 more
wiley +1 more source
Implication of GPRASP2 in the Proliferation and Hair Cell‐Forming of Cochlear Supporting Cells
Cell Proliferation, EarlyView.Schematic diagram of GPRASP2‐mediated SCs proliferation and HCs formation. GPRASP2 deficiency results in increased lysosomal degradation of SMO. GPRASP2‐mediated SMO/GLI1 signalling promotes SC proliferation, which contributes to HC formation. GPRASP2‐mediated SMO/β‐catenin signalling is implicated in HCs fate specification and differentiation ...
Jing Cai +9 more
wiley +1 more source
Cell Proliferation, EarlyView.Neomycin induces increased expression of Xaf1 in cochlear HCs, triggering PANoptosis, which encompasses pyroptosis, apoptosis and necroptosis (left). Targeted Xaf1 knockdown in HCs through gene therapy can significantly inhibit the occurrence of PANoptosis in HCs (right).
Xinlin Wang +10 more
wiley +1 more source
Developmental Medicine &Child Neurology, EarlyView.In children with symptomatic congential CMV, those with polymicrogyria are at an increased risk of developing epilepsy. Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.16263 Abstract Aim To identify neonatal magnetic resonance imaging (MRI) features that predict the likelihood of children with congenital cytomegalovirus (cCMV ...
George Lawson +7 more
wiley +1 more source
Pediatric Sensorineural Hearing Loss [PDF]
Ear, Nose & Throat Journal, 2014 openaire +2 more sources