Results 191 to 200 of about 842,718 (302)

CHARGE Syndrome: What an Otolaryngologist Should Know—A Systematic Review and Meta‐Analysis

open access: yesOtolaryngology–Head and Neck Surgery, EarlyView.
Abstract Objective To synthesize the prevalence of otolaryngologic manifestations in CHARGE syndrome (CS) to support otolaryngologists in delivering comprehensive management. Data Sources PubMed/MEDLINE, Embase, and Google Scholar were searched for English‐ and French‐language studies published from January 1980 through January 2025.
Camille Caron   +5 more
wiley   +1 more source

Restoration, Not Bypass: Otoferlin Gene Therapy and a New Era in Hearing Loss Treatment

open access: yesOtolaryngology–Head and Neck Surgery, EarlyView.
Abstract The FDA approval of Otarmeni, an AAV‐based gene therapy for biallelic OTOF‐associated sensorineural hearing loss, represents a conceptual shift in otology: from bypassing defective auditory physiology to restoring it. Unlike cochlear implantation, which circumvents damaged sensory structures, OTOF gene replacement targets a synaptic deficit in
Jazlyn A. Selvasingh, Justin R. Shinn
wiley   +1 more source

The Audiologic and Otolaryngologic Phenotype in WHIM Syndrome

open access: yesOtolaryngology–Head and Neck Surgery, EarlyView.
Abstract Objective WHIM syndrome (warts, hypogammaglobulinemia, infections, and myelokathexis syndrome) is an ultra‐rare primary immunodeficiency disease caused by autosomal dominant hyperfunctional mutations in the chemokine receptor CXCR4. Otolaryngologists are frequently consulted to evaluate WHIM patients because of recurrent acute ear and sinus ...
Christopher K. Zalewski   +7 more
wiley   +1 more source

Molecular Biomarkers in Meniere's Disease: A Scoping Review of Current Evidence

open access: yesOtolaryngology–Head and Neck Surgery, EarlyView.
Abstract Objective Meniere's disease is a complex chronic inner ear condition that is characterized by vertigo, tinnitus, aural fullness, and progressive hearing loss. Currently, diagnostic strategies remain symptom‐driven, and treatments focus on management of discrete episodes rather than targeting underlying pathophysiology.
Hamza Kamran   +3 more
wiley   +1 more source

Prenatal Spectrum of COL2A1‐Related Spondyloepiphyseal Dysplasia Congenita: A Review and Two Case Reports

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective To review the published literature on prenatal findings of COL2A1‐related SEDC, summarizing reported imaging and molecular variants, and to describe two additional prenatal cases evaluated at a tertiary referral center. Method A narrative review with a systematic search strategy was conducted to analyze prenatal imaging findings ...
López‐Rodríguez Larissa   +10 more
wiley   +1 more source

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