Results 231 to 240 of about 166,190 (339)
Novel Pathogenic Variant Confirms the Association of REST and Jones Syndrome
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
Hyperbaric oxygen therapy for sudden sensorineural hearing loss (Review). [PDF]
Sun Y, Wang S, Fu H, Ge X, Pan S.
europepmc +1 more source
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
Biallelic MINAR2 variant is associated with nonsyndromic severe to profound sensorineural hearing loss. [PDF]
Almontashiri NAM.
europepmc +1 more source
Abstract Background Dysfunction of δ‐aminolevulinic acid dehydratase (ALAD), the second enzyme involved in heme biosynthesis, leads to two pathologies: genetic and acquired. The genetic form is an ultrarare, severe childhood‐onset disease inherited in an autosomal recessive manner, whereas the acquired form usually affects adults due to enzyme ...
Elena Di Pierro +22 more
wiley +1 more source
Adriamycin nephropathy induces sensorineural hearing loss via blood-labyrinth barrier breakdown in BALB/c mice. [PDF]
Gajbhiye A +10 more
europepmc +1 more source
Emerging Therapies for Sensorineural Hearing Loss.
Matthew G. Crowson +2 more
semanticscholar +1 more source
Cochlear implantation (CI) is a safe and well‐established intervention for sensorineural hearing loss, with a low incidence of severe postoperative infections. We present the first reported case of cerebellar abscess and herniation due to CI infection. This unique case involves a 57‐year‐old man with recurrent cochlear implant infections, necessitating
Celine Molfetta +5 more
wiley +1 more source
A novel audiogram model for predicting the prognosis of sudden sensorineural hearing loss. [PDF]
Tseng HW +4 more
europepmc +1 more source

