Unexpected Spontaneous Recovery From Profound Sensorineural Hearing Loss Induced by Radiation in a Patient With a Skull Base Tumor. [PDF]
Khoury M +3 more
europepmc +1 more source
Longitudinal Cochlear Implant Use in Pediatric Patients With Unilateral Hearing Loss
Abstract Objective To characterize longitudinal cochlear implant (CI) usage patterns in children with unilateral hearing loss (UHL) and evaluate the impact of age at implantation and duration of deafness on device use. Study Design Retrospective cohort study. Setting Two academic tertiary care centers. Methods Pediatric CI recipients with UHL implanted
David Octeau +5 more
wiley +1 more source
Early hypotonia and visual regression as presenting features of peroxisome biogenesis disorder: an Egyptian case report. [PDF]
Sadek AA +9 more
europepmc +1 more source
Discovery of PHB1 as a Novel Candidate Gene in Dominant Optic Atrophy
A heterozygous PHB1 missense variant (p.Ser147Phe) segregates with autosomal dominant optic atrophy in a multi‐generation family. Structural and cellular analyses suggest altered mitochondrial dynamics, identifying PHB1 as a novel candidate gene for hereditary optic neuropathy. ABSTRACT Hereditary optic neuropathies comprise a genetically heterogeneous
Marija Volk +13 more
wiley +1 more source
Association between Vitamin D Level and Sensorineural Hearing Loss in Adults: Systematic Review and Meta-Analysis. [PDF]
Mohmed AMA +5 more
europepmc +1 more source
The Burden: Hearing loss (HL) is the most prevalent sensory disorder globally, affecting 1.5 million individuals in Brazil. The Gap: While > 150 genes are linked to HL, the genetic architecture in underrepresented populations like Brazil is poorly defined. The Problem: This lack of data limits diagnostic yield and the application of precision medicine.
Stella Diogo‐Cavassana +7 more
wiley +1 more source
Cochlear Implantation Following Neonatal Meningitis: A Rare Case Report. [PDF]
Hošnová D +3 more
europepmc +1 more source
Coexistence of Proteinase 3 (PR3)-Positive Granulomatosis With Polyangiitis and Genetically Confirmed Alport Syndrome in a 31-Year-Old Female Patient: A Diagnostic and Management Challenge. [PDF]
Valdes L +4 more
europepmc +1 more source

