Results 21 to 30 of about 179,610 (183)

Novel genetic determinants contribute to hearing loss in a central European cohort with enlarged vestibular aqueduct [PDF]

Molecular Medicine
Background The enlarged vestibular aqueduct (EVA) is the most commonly detected inner ear malformation. Biallelic pathogenic variants in the SLC26A4 gene, coding for the anion exchanger pendrin, are frequently involved in determining Pendred syndrome and
Emanuele Bernardinelli, Raffaella Liuni, Rapolas Jamontas, Paola Tesolin, Anna Morgan, Giorgia Girotto, Sebastian Roesch, Silvia Dossena   +7 more
doaj   +2 more sources

Outcome of cochlear implantation in children with enlarged vestibular aqueduct (EVA) and mondini dysplasia (incomplete partition type II)

Journal of Medicine in Scientific Research, 2018
Background Congenital inner ear abnormality is a major cause of sensorineural hearing loss in children, about 20% of children with congenital sensorineural hearing loss (SNHL) have associated malformations of the temporal bone, and increased experience ...
Ihab Sefein, Amr Younes, Abir Omara, Soha Hamada, Azza Sami, Iman ELRouby   +5 more
doaj   +2 more sources

Correlation Between Air-Bone Gap and Vestibular Aqueduct Size in Enlarged Vestibular Aqueduct Syndrome: A Systematic Review. [PDF]

Indian J Otolaryngol Head Neck Surg, 2023
The purpose of this review was to evaluate the air–bone gap with vestibular aqueduct size in enlarged vestibular aqueduct syndrome. According to the PRISMA guidelines we conducted a systematic review of the literature. Published international articles in
Avallone E, De Luca P, Viola P, Ralli M, Gioacchini FM, Chiarella G, Ricciardiello F, Cassandro C, Salzano G, Lenarz T, Salzano FA, Scarpa A.   +11 more
europepmc   +3 more sources

Vestibular Aqueduct Midpoint Width and Hearing Loss in Patients With an Enlarged Vestibular Aqueduct. [PDF]

JAMA Otolaryngol Head Neck Surg, 2017
Elucidating the relationship between vestibular aqueduct size and hearing loss progression may inform the prognosis and counseling of patients who have an enlarged vestibular aqueduct (EVA).To examine the association between vestibular aqueduct size and repeated measures of hearing loss.For this retrospective medical record review, 52 patients with a ...
Ascha MS, Manzoor N, Gupta A, Semaan M, Megerian C, Otteson TD.   +5 more
europepmc   +3 more sources

Diagnosis of Enlarged Vestibular Aqueduct Using Wideband Tympanometry. [PDF]

J Clin Med
Background: Wideband tympanometry (WBT) has the potential to distinguish various mechanical middle ear and inner ear pathologies noninvasively. This study investigated the diagnostic value of WBT in the diagnosis of enlarged vestibular aqueduct (EVA). Methods: The absorbance and resonance frequency (RF) of patients with EVA (40 ears, 25 patients) and ...
Ganaha A, Nojiri N, Nakamura T, Higa T, Kondo S, Tono T.   +5 more
europepmc   +3 more sources

A Family of H723R Mutation for Associated with Enlarged Vestibular Aqueduct Syndrome [PDF]

Clinical and Experimental Otorhinolaryngology, 2009
Recessive mutations of the SLC26A4 (PDS) gene on chromosome 7q31 can cause sensorineural deafness with goiter (Pendred syndrome, OMIM 274600) or NSRD with goiter (at the DFNB4 locus, OMIM 600791).
SungHee Kim, Dae Gun Song, Jae Woong Bae, Soo-Young Choi, Un-Kyung Kim, Young Jun Choi, Kyu Yup Lee, Sang Heun Lee, Jung Rae Lee   +8 more
doaj   +2 more sources

A Novel Frameshift Mutation of in a Korean Family With Nonsyndromic Hearing Loss and Enlarged Vestibular Aqueduct [PDF]

Clinical and Experimental Otorhinolaryngology, 2017
Objectives We aimed to identify the causative mutation for siblings in a Korean family with nonsyndromic hearing loss (HL) and enlarged vestibular aqueduct (EVA).
Borum Sagong, Jeong-In Baek, Kyu-Yup Lee, Un-Kyung Kim   +3 more
doaj   +2 more sources

A New Genetic Diagnostic for Enlarged Vestibular Aqueduct Based on Next-Generation Sequencing. [PDF]

PLoS ONE, 2016
Enlarged vestibular aqueduct (EVA) is one of the most common congenital inner ear malformations and accounts for 1-12% of sensorineural deafness in children and adolescents. Multiple genetic defects contribute to EVA; therefore, early molecular diagnosis
Yalan Liu, Lili Wang, Yong Feng, Chufeng He, Deyuan Liu, Xinzhang Cai, Lu Jiang, Hongsheng Chen, Chang Liu, Hong Wu, Lingyun Mei   +10 more
doaj   +2 more sources

Two Compound Heterozygous Were Identified in Gene in Two Chinese Families With Enlarged Vestibular Aqueduct [PDF]

Clinical and Experimental Otorhinolaryngology, 2019
Objectives To investigate the genetic causes of hearing loss with enlarged vestibular aqueduct (EVA) in two children from unrelated two Chinese families. Methods Sanger sequencing of all coding exons in SLC26A4 (encoding Pendrin protein) was performed on
Yongbo Yu, Yang Yang, Jie Lu, Yaqiong Jin, Yeran Yang, Enyu Hong, Jin Shi, Feng Chen, Shujing Han, Ping Chu, Yongli Guo, Xin Ni   +11 more
doaj   +2 more sources

Can MRI biomarkers for hearing loss in enlarged vestibular aqueduct be measured reproducibly? [PDF]

Br J Radiol, 2023
OBJECTIVE: Morphological features of an enlarged endolymphatic duct (ED) and sac (ES) are imaging biomarkers for genotype and hearing loss phenotype. We determine which biomarkers can be measured in a reproducible manner, facilitating further clinical ...
Saeed HS, Rajai A, Dixon R, Kapadia T, Bruce IA, Stivaros S.   +5 more
europepmc   +2 more sources