Results 91 to 100 of about 179,610 (183)

Novel compound heterozygous ATP6V1B1 mutations in a Chinese child patient with primary distal renal tubular acidosis: a case report

BMC Nephrology, 2018
Background Distal renal tubular acidosis (dRTA) is a heterogeneous disorder characterized by normal anion gap metabolic acidosis. Autosomal recessive dRTA is usually caused by mutations occurring in ATP6V1B1 and ATP6V0A4 genes,encoding subunits B1 and a4
Xiangzhong Zhao, Jingru Lu, Yanxia Gao, Xiaoling Wang, Yanhua Lang, Leping Shao   +5 more
doaj   +1 more source

Validating the splicing effect of rare variants in the SLC26A4 gene using minigene assay

BMC Medical Genomics
Background The SLC26A4 gene is the second most common cause of hereditary hearing loss in human. The aim of this study was to utilize the minigene assay in order to identify pathogenic variants of SLC26A4 associated with enlarged vestibular aqueduct (EVA)
Yixin Zhao, Yan Long, Tao Shi, Xin Ma, Chengyu Lian, Hanjun Wang, Hongen Xu, Lisheng Yu, Xiaotao Zhao   +8 more
doaj   +1 more source

Three-dimensional volumetry in prediction of intraoperative cerebrospinal fluid leak in patients with enlarged vestibular aqueduct

. Introduction. Enlarged Vestibular Aqueduct (EVA) is a frequently encountered developmental malformation of the inner ear, identified in patients with congenital sensorineural hearing loss.
V. E. Kuzovkov, G. V. Ivanov, A. S. Lilenko, D. S. Luppov, S. B. Sugarova, O. D. Balandina, Yu. S. Korneva   +6 more
core   +1 more source

Simple Patient-Based Transmantle Pressure and Shear Estimate From Cine Phase-Contrast MRI in Cerebral Aqueduct [PDF]

, 2012
From measurements of the oscillating flux of the cerebrospinal fluid (CSF) in the aqueduct of Sylvius, we elaborate a patient-based methodology for transmantle pressure (TRP) and shear evaluation.
Plouraboué, Franck, Bardan, Gérald, Balédent, Olivier, Zagzoule, Mokhtar   +3 more
core   +1 more source

Enlarged vestibular aqueduct

, 2021
Andrew J. Griffith, Keiji Honda
openaire   +2 more sources

Large Vestibular Aqueduct-Associated Symptoms: Endolymphatic Duct Blockage as a Surgical Treatment

Audiology Research
Objective: This study aimed to evaluate the effectiveness of endolymphatic duct blockage (EDB) on dizziness control in patients with a large vestibular aqueduct (LVA) and to evaluate its effect on hearing.
Issam Saliba, Sarah Alshehri, Isabelle Fournier, Nasser Altamami   +3 more
doaj   +1 more source

Timing of cochlear implantation in large vestibular aqueduct syndrome–a retrospective cohort analysis

Frontiers in Neurology
IntroductionLarge vestibular aqueduct syndrome (LVAS) typically manifests fluctuating, progressive, or sudden hearing loss. Cochlear implantation (CI) is a critical intervention for LVAS patients when hearing aids (HA) no longer confer sufficient benefit.
Xiao Liu, Wanting Huang, Yunxiu Wang, Jingjing Xu, Lulu Xie, Lin Liu, Jia Chen   +6 more
doaj   +1 more source

Prognostic Factors for Sudden Drops in Hearing Level After Minor Head Injury in Patients With an Enlarged Vestibular Aqueduct: A Meta-analysis

, 2015
OBJECTIVE: To identify factors associated with sudden drops in hearing level after minor head trauma in patients with an enlarged vestibular aqueduct (EVA)
Noordman, B.J., van Beeck Calkoen, E.A., Merkus, P., Witte, B.I., Hensen, E.F., Goverts, S.T.   +5 more
core   +1 more source

Multisensory Interactions between Vestibular, Visual and Somatosensory Signals. [PDF]

, 2015
Vestibular inputs are constantly processed and integrated with signals from other sensory modalities, such as vision and touch. The multiply-connected nature of vestibular cortical anatomy led us to investigate whether vestibular signals could ...
Walther, LE, Ferrè, Elisa Raffaella, Leif Erik Walther, Haggard Patrick, Haggard, P, Elisa Raffaella Ferrè (512146), Haggard, P., Walther, Leif Erik, Leif Erik Walther (601951), Walther Leif Erik, Ferrè Elisa Raffaella, Elisa Raffaella Ferrè, Patrick Haggard, Haggard, Patrick, Walther, L.E., Patrick Haggard (264440), Ferrè, ER   +16 more
core   +2 more sources

SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations.

, 2006
Sensorineural hearing loss is the most frequent sensory deficit of childhood and is of genetic origin in up to 75% of cases. It has been shown that mutations of the SLC26A4 (PDS) gene were involved in syndromic deafness characterized by congenital ...
Pierre Chauvin, Marie-Françoise Obstoy, Francannet, C., Couderc, Rémy, Patrice Tran Ba Huy, Catherine Calais, Eliot, Marie-Madeleine, Houang, M., Duriez, Françoise, Mm, Eliot, Loundon, Nathalie, Françoise Denoyelle, Albert David, Petit, C., Delobel, Bruno, Loundon, N., Blons, Hélène, Denoyelle, Françoise, Hubert Journel, Marlin, Sandrine, Journel, H., En, Garabedian, Joannard, A., Chauvin, P., Sergent-Allaoui, Annie, Bitoun, P., Jonard, Laurence, Françoise Duriez, Feldmann, D., David, Albert, Jacques Leman, Marie-Madeleine Eliot, Blons, H., Sébastien Schmerber, Catros, H., Feldmann, Delphine, Obstoy, Marie-Françoise, Albert, S., David, A., Annie Sergent-Allaoui, Couderc, R., Ba Huy P, Tran, Delphine Feldmann, Petit, Christine, Drouin-Garraud, V., Lacombe, Didier, Leman, Jacques, Journel, Hubert, Laurence Jonard, Hélène Dollfus, Dollfus, H., Denoyelle, F., Lacombe, D., Catros, Hélène, Calais, Catherine, Hélène Catros, Sébastien Albert, Hélène Blons, Duriez, F., Joannard, Alain, Alain Joannard, Houang, Muriel, Muriel Houang, Jonard, L., Valérie Drouin-Garraud, Christine Francannet, Rémy Couderc, Schmerber, S., Schmerber, Sébastien, A., Garabédian, Eréa-Noël, Tran Ba Huy, Patrice, Bitoun, Pierre, Calais, C., Mf, Obstoy, Chauvin, Pierre, Albert, Sébastien, Sandrine Marlin, Leman, J., Pierre Bitoun, Francannet, Christine, Nathalie Loundon, Sergent-Allaoui, A., Christine Petit, Delobel, B., Marlin, S., Dollfus, Hélène, Bruno Delobel, Drouin-Garraud, Valérie, Didier Lacombe, Eréa-Noël Garabédian   +89 more
core   +1 more source