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Bilateral delayed endolymphatic hydrops evaluated by bilateral intratympanic injection of gadodiamide with 3T-MRI

: Yoh-ichiro Iwasa, Keita Tsukada, Hidekane Yoshimura. Investigation: Yoh-ichiro Iwasa, Keita Tsukada, Hidekane Yoshimura. Methodology: Keita Tsukada, Hisakuni Fukuoka. Project administration: Keita

Enhanced viral-mediated cochlear gene delivery in adult mice by combining canal fenestration with round window membrane inoculation

Cochlear gene therapy holds promise for the treatment of genetic deafness. Assessing its impact in adult murine models of hearing loss, however, has been hampered by technical challenges that have made it difficult to establish a robust method to deliver transgenes to the mature murine inner ear. Here in we demonstrate the feasibility of a combined round window membrane injection...

Intravenous rAAV2/9 injection for murine cochlear gene delivery

Author notes Seiji B. Shibata and Hidekane Yoshimura contributed equally to this work. AffiliationsDepartment of Otolaryngology - Head and Neck Surgery, Carver College of Medicine, University of Iowa, Iowa ... . Shibata, Hidekane Yoshimura, Paul T. Ranum, Alexander T. Goodwin & Richard J. H. SmithDepartment of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Nagano, 390-8621, JapanHidekane

Frequency of Usher syndrome type 1 in deaf children by massively parallel DNA sequencing

Usher syndrome type 1 (USH1) is the most severe of the three USH subtypes due to its profound hearing loss, absent vestibular response and retinitis pigmentosa appearing at a prepubescent age. Six causative genes have been identified for USH1, making early diagnosis and therapy possible through DNA testing. Targeted exon sequencing of selected genes using massively parallel DNA...

Deafness Gene Expression Patterns in the Mouse Cochlea Found by Microarray Analysis

Background Tonotopy is one of the most fundamental principles of auditory function. While gradients in various morphological and physiological characteristics of the cochlea have been reported, little information is available on gradient patterns of gene expression. In addition, the audiograms in autosomal dominant non syndromic hearing loss can be distinctive, however, the...

OTOF mutation screening in Japanese severe to profound recessive hearing loss patients

Background Auditory neuropathy spectrum disorder (ANSD) is a unique form of hearing loss that involves absence or severe abnormality of auditory brainstem response (ABR), but also the presence of otoacoustic emissions (OAEs). However, with age, the OAEs disappear, making it difficult to distinguish this condition from other nonsyndromic hearing loss. Therefore, the frequency of...

Massively Parallel DNA Sequencing Facilitates Diagnosis of Patients with Usher Syndrome Type 1

Usher syndrome is an autosomal recessive disorder manifesting hearing loss, retinitis pigmentosa and vestibular dysfunction, and having three clinical subtypes. Usher syndrome type 1 is the most severe subtype due to its profound hearing loss, lack of vestibular responses, and retinitis pigmentosa that appears in prepuberty. Six of the corresponding genes have been identified...