Results 51 to 60 of about 2,727 (206)

Novel POU3F4 variants identified in patients with inner ear malformations exhibit aberrant cellular distribution and lack of SLC6A20 transcriptional upregulation

Frontiers in Molecular Neuroscience, 2022
Hearing loss (HL) is the most common sensory defect and affects 450 million people worldwide in a disabling form. Pathogenic sequence alterations in the POU3F4 gene, which encodes a transcription factor, are causative of the most common type of X-linked ...
Emanuele Bernardinelli, Sebastian Roesch, Edi Simoni, Angela Marino, Gerd Rasp, Laura Astolfi, Laura Astolfi, Antonio Sarikas, Silvia Dossena   +8 more
doaj   +1 more source

E-ABR in patients with cochlear implant: A comparison between patients with malformed cochlea and normal cochlea [PDF]

, 2019
OBJECTIVES: This study aims to compare the electrical auditory brainstem response (EABR) following cochlear implant (CI) surgery in pediatric subjects with cochlear malformation and a normal cochlea, in order to assess the sensitivity of EABR and to ...
de Lucia A., Di Stadio A., Dipietro L., Martines F., Pastore V., Ricci G., Trabalzini F., Volpe A. D.   +7 more
core   +1 more source

The Enlarged Vestibular Aqueduct Syndrome (EVA Syndrome)

Ear, Nose & Throat Journal, 1993
The presentation to the Department of Pediatric Otolaryngology at the Children's Hospital of Michigan of a series of patients with sensorineural hearing loss and enlargement of the vestibular aqueduct prompted exploratory tympanotomy in three patients (two unilateral and one bilateral), for a total of four ears.
W M, Belenky, D N, Madgy, J S, Leider, C J, Becker, A J, Hotaling   +4 more
openaire   +2 more sources

Intracranial haemorrhage in a dobermann puppy with von Willebrand's disease [PDF]

, 1995
Neurological examination of a lethargic, ataxic 12-week-old dobermann revealed decreased conscious proprioception in all its limbs. Haematological examination revealed a low platelet count.
Dunn, J.K., Dunn, K.J., Herrtage, M.E., Nicholls, P.K.   +3 more
core   +2 more sources

Volumetry improves the assessment of the vestibular aqueduct size in inner ear malformation [PDF]

, 2022
Objectives: Enlarged vestibular aqueduct (EVA) is a common finding associated with inner ear malformations (IEM). However, uniform radiologic definitions for EVA are missing and various 2D-measurement methods to define EVA have been reported.
Breitsprecher, Tabita M, Bächinger, David, Dazert, Stefan, Dhanasingh, Anandhan, Langner, Sönke, Mlynski, Robert, Pscheidl, Alexander, Roland, Peter, Volkenstein, Stefan, Weiss, Nora M   +9 more
core   +1 more source

Enlarged vestibular aqueduct in pediatric sensorineural hearing loss [PDF]

Otolaryngology–Head and Neck Surgery, 2009
ObjectiveComparison of the Cincinnati criteria (midpoint >0.9 mm or operculum >1.9 mm) to the Valvassori criterion (midpoint ≥1.5 mm) for enlarged vestibular aqueduct (EVA) in pediatric cochlear implant patients.Study DesignCohort study.SubjectsOne hundred thirty pediatric cochlear implant recipients.MethodsWe reviewed temporal bone CT scans to ...
Karuna, Dewan, Franz J, Wippold, Judith E C, Lieu   +2 more
openaire   +2 more sources

From Sound to Silence: Cerebellar Abscesses and Herniation Due to Cochlear Implant Infection With Escherichia coli and Bacteroides fragilis

Case Reports in Infectious Diseases, Volume 2026, Issue 1, 2026.
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, Ruchi Biswas, Marc Pickard, Tanzila Salim, Carlos Nuñez, Dawei Cui   +5 more
wiley   +1 more source

Compound heterozygous variants of the SLC26A4 gene in a Chinese family with enlarged vestibular aqueducts

BMC Medical Genomics, 2022
Background To investigate the genetic causes of hearing loss in patients with enlarged vestibular aqueduct (EVA), the SLC26A4-related genotypes and phenotypes were analyzed.
Xiaohui He, Shaozhi Zhao, Lin Shi, Yitong Lu, Yintong Yang, Xinwen Zhang   +5 more
doaj   +1 more source

The role and spectrum of SLC26A4 mutations in Iranian patients with autosomal recessive hereditary deafness [PDF]

, 2015
Objective: To determine the prevalence and types of SLC26A4 mutations and the relevant phenotypes in a series of Iranian deaf patients. Design: A descriptive laboratory study.
Azadegan-Dehkordi, Fatemeh., Bagheri, Nader., Farrokhi, Effat., Hashemzadeh-Chaleshtori, Morteza., Tabatabaiefar, Mohammad Amin., Yazdanpanahi, Nasrin.   +5 more
core  

International Pediatric Otolaryngology Group (IPOG) Consensus on Vestibular Testing in Children

The Laryngoscope, Volume 135, Issue 11, Page 4412-4418, November 2025.
This study represents the first international consensus on vestibular testing in children. Twenty‐one international experts from nine countries provided guidelines on the recommended minimum test battery necessary to perform a pediatric vestibular assessment.
A. Coudert, J. R. Brodsky, I. Dhooge, An Boudewyns, A. Chiao, S. Cushing, S. Dasgupta, J. M. Espinosa‐Sanchez, J. Gurberg, E. Ionescu, C. M. Jenks, V. Lavender, A. Maudoux, R. OReilly, W. Pagarkar, M. Parodi, J. Saniasiaya, F. Tjernström, S. Waissbluth, J. C. C. Widdershoven, F. Simon   +20 more
wiley   +1 more source