Results 51 to 60 of about 11,947 (224)

A novel myopathy with autophagic vacuoles associated with biallelic variants in CLN8

Brain Pathology, EarlyView.
We describe a novel adult‐onset myopathy with autophagic vacuoles and characteristic features of ceroid lipofuscinosis associated with biallelic CLN8 variants, seizures, and muscle weakness. Autophagosomal/lysosomal deposition of curvilinear, autofluorescent material containing the mitochondrial adenosine triphosphate (ATP) synthase membrane subunit c ...
Ulrika Lindgren, Carola Hedberg‐Oldfors, Kittichate Visuttijai, Sara Nordström, Hans Goebel, Anders Oldfors   +5 more
wiley   +1 more source

Vestibular-evoked myogenic potentials and video head impulse test in cochlear otosclerosis

The Egyptian Journal of Otolaryngology, 2023
Background Otosclerosis is one of the most common causes of hearing loss in adults with clinical onset between 20 and 40 years of age. Vestibular symptoms may be the most agonizing and primary symptom in cases with otosclerosis, so the assessment of ...
Doaa Mohamed Elmoazen, Samir Ibrahim Asal, Shimaa Mohamed Ziton   +2 more
doaj   +1 more source

Stapedotomy Favorable Outcome on Osteosclerosis Patient's with High Pitch Tinnitus

Otorhinolaryngology and Facial Plastic Surgery, 2022
Background: Otosclerosis is a primary disease of the temporal bone and otic capsule with autosomal dominant transmission and variable expression. The exact pathogenesis and factors affecting tinnitus in otosclerosis patients are unknown. This study aims
Farhad Mokhtarinejad, Mahdi Khajavi, Niloofar Iraji   +2 more
doaj   +1 more source

Greater Cochlear Damage in Otogenic Versus Meningogenic Meningitis: Hearing Rehabilitation Implications

The Laryngoscope, Volume 136, Issue 9, Page 3998-4005, September 2026.
Otogenic route of meningitis was associated with greater cochlear hair cell loss in comparison with the meningogenic one in this otopathology study. Neuronal depletion has been traditionally implicated in failed hearing rehabilitation of post‐meningitis deafness.
Matheus Pedrosa Tavares, Henrique Furlan Pauna, Rafael da Costa Monsanto, Nevra Keskin‐Yilmaz, Breno Lima de Almeida, Norma de Oliveira Penido   +5 more
wiley   +1 more source

H Syndrome Associated With Pure Red Cell Aplasia, Rosai–Dorfman Disease, and Sensorineural Hearing Loss: Phenotypic Variability in Three Children With the Same SLC29A3 Mutation

Clinical Case Reports, Volume 14, Issue 8, August 2026.
ABSTRACT H syndrome is a rare autosomal recessive disorder caused by mutations in the SLC29A3 gene. We report three pediatric patients with a homozygous c.1309G>A (p.Gly437Arg) mutation presenting with distinct phenotypic variations. These cases expand the clinical spectrum and emphasize the importance of early genetic diagnosis and family counseling.
Mohammad Najajrah, Hadeel I. Bouzia, Nermin K. Darawi, Fatima S. Hajjaj, Nour H. Moosa, Noor M. Awad   +5 more
wiley   +1 more source

Does stapes surgery improve tinnitus in patients with otosclerosis?

Brazilian Journal of Otorhinolaryngology
Introduction: Otosclerosis (OS) is the primary disease of the human temporal bone characterized by conductive hearing loss and tinnitus. The exact pathogenesis of tinnitus in otosclerosis patients is not known and factors affecting the tinnitus outcome ...
Onur Ismi, Osman Erdogan, Mesut Yesilova, Cengiz Ozcan, Didem Ovla, Kemal Gorur   +5 more
doaj   +1 more source

Anatomopathology of the Superstructure of the Stapes in Patients with Otosclerosis

International Archives of Otorhinolaryngology, 2015
Introduction Otosclerosis is a disease that causes bone resorption and deposition in the auditory structures, leading to deafness. Many studies have evaluated the histopathology of the stapes footplate in this disease (osteoblasts, osteoclasts, vascular ...
Bettina Carvalho, Rogerio Hamerschmidt, Jose Ederaldo Telles, Nicole Richter   +3 more
doaj   +1 more source

Is There a Role for Sodium Fluoride in Otosclerosis Treatment?

The Laryngoscope, Volume 136, Issue 8, Page 3307-3309, August 2026.
Various reports have investigated the role of NaF for stabilizing SNHL in the setting of otosclerosis; however, there currently remains no established practice guideline or widespread consensus. The purpose of this paper is to interpret the literature to determine best practices for the use of NaF in otosclerosis management.
Timothy Shim, Kevin Wong, Michael J. Ruckenstein   +2 more
wiley   +1 more source

Labyrinthine Abnormalities on MRI in Untreated Otosclerosis: Prevalence and Clinical Relevance

The Laryngoscope, Volume 136, Issue 8, Page 3559-3568, August 2026.
In untreated otosclerosis with labyrinthine symptoms, delayed 3D FLAIR MRI rarely demonstrates endolymphatic hydrops but frequently reveals blood–labyrinth barrier (BLB) disruption. BLB enhancement is spatially associated with cochlear endosteal and round window involvement and increases with the severity of the hearing loss phenotype.
Héléna Pencroffi, Sylvain Bourdoncle, Jean Fanet, Stéphane Gargula, Denis Ayache, Loïc Duron, Julien Savatovsky, Guillaume Poillon   +7 more
wiley   +1 more source

Comparison of Manual Versus Robot‐Assisted Piston Prosthesis Placement and Crimping in a 3D‐Printed Temporal Bone Model

Laryngoscope Investigative Otolaryngology, Volume 11, Issue 4, August 2026.
ABSTRACT Objectives To reduce operator‐dependent variability and improve surgical precision, robot‐assisted piston prosthesis placement and crimping during otosclerosis surgery may represent a promising approach. However, dedicated microsurgical forceps for this application are not yet available in clinical practice.
Hannah Daoudi, Axelle Coban, Renato Torres, Resul Ekici, Evelyne Ferrary, Yann Nguyen, Sean C. Sheppard   +6 more
wiley   +1 more source