Τετάρτη 17 Μαΐου 2017

Editorial: Auditory injury – A military perspective

Publication date: June 2017
Source:Hearing Research, Volume 349
Author(s): Kurt Yankaskas, Tanisha Hammill, Mark Packer, Jian Zuo




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Editorial: Auditory injury – A military perspective

Publication date: June 2017
Source:Hearing Research, Volume 349
Author(s): Kurt Yankaskas, Tanisha Hammill, Mark Packer, Jian Zuo




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Amazing Tinnitus TED Talk: “Help is on the way”

I’d encourage all of you to watch this wonderful lecture from Josef Rauschecker, a tinnitus researcher with decades of experience.

In this talk, he reviews the mechanism of how tinnitus occurs in the brain, and reviews possible directions for future treatment.



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POU4F3 mutation screening in Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis identified novel variants associated with autosomal dominant hearing loss

by Tomohiro Kitano, Maiko Miyagawa, Shin-ya Nishio, Hideaki Moteki, Kiyoshi Oda, Kenji Ohyama, Hiromitsu Miyazaki, Hiroshi Hidaka, Ken-ichi Nakamura, Takaaki Murata, Rina Matsuoka, Yoko Ohta, Nobuhiro Nishiyama, Kozo Kumakawa, Sakiko Furutate, Satoshi Iwasaki, Takechiyo Yamada, Yumi Ohta, Natsumi Uehara, Yoshihiro Noguchi, Shin-ichi Usami

A variant in a transcription factor gene, POU4F3, is responsible for autosomal dominant nonsyndromic hereditary hearing loss, DFNA15. To date, 14 variants, including a whole deletion of POU4F3, have been reported to cause HL in various ethnic groups. In the present study, genetic screening for POU4F3 variants was carried out for a large series of Japanese hearing loss (HL) patients to clarify the prevalence and clinical characteristics of DFNA15 in the Japanese population. Massively parallel DNA sequencing of 68 target candidate genes was utilized in 2,549 unrelated Japanese HL patients (probands) to identify genomic variations responsible for HL. The detailed clinical features in patients with POU4F3 variants were collected from medical charts and analyzed. Novel 12 POU4F3 likely pathogenic variants (six missense variants, three frameshift variants, and three nonsense variants) were successfully identified in 15 probands (2.5%) among 602 families exhibiting autosomal dominant HL, whereas no variants were detected in the other 1,947 probands with autosomal recessive or inheritance pattern unknown HL. To obtain the audiovestibular configuration of the patients harboring POU4F3 variants, we collected audiograms and vestibular symptoms of the probands and their affected family members. Audiovestibular phenotypes in a total of 24 individuals from the 15 families possessing variants were characterized by progressive HL, with a large variation in the onset age and severity with or without vestibular symptoms observed. Pure-tone audiograms indicated the most prevalent configuration as mid-frequency HL type followed by high-frequency HL type, with asymmetry observed in approximately 20% of affected individuals. Analysis of the relationship between age and pure-tone average suggested that individuals with truncating variants showed earlier onset and slower progression of HL than did those with non-truncating variants. The present study showed that variants in POU4F3 were a common cause of autosomal dominant HL.

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Delayed Effect of Active Pressure Treatment on Endolymphatic Hydrops

Objective: To identify eventual correlations between the effect of low-pressure treatment and endolymphatic hydrops in Ménière patients. Material and Methods: The study group consisted of subjects affected by definite Ménière disease (2015) and a severe degree of disability, who received a ventilation tube with or without a low-pressure treatment before undergoing a surgical procedure (vestibular neurectomy). After the placement of the ventilation tube, the subjects were either left alone with the tube or received 1 month of self-administered low-pressure therapy with a portable device. In all subjects, an electrocochleography (ECochG) was performed and specific questionnaires - Dizziness Handicap Inventory (DHI) and Functional Scale Level (FSL) - were completed before starting either arm of treatment, at the end of treatment, and then 3 and 6 months later. Results: All selected subjects presented with an ECochG pattern that was indicative of endolymphatic hydrops before starting either treatment. At the end of pressure treatment, 80% showed symptomatic improvement while maintaining the hydropic ECochG pattern. At the 3-month control stage, the hydropic pattern resulted normalized (Conclusions: Although 1 month of low-pressure treatment provided a positive symptomatological outcome, normalization of the hydropic ECochG parameters occurred only at a later time. Therefore, it is possible to assume that endolymphatic hydrops could be concurrent with a non-symptomatic stage of Ménière disease, and that the anti-hydropic effect of the low-pressure treatment, if any, would present with a certain delay after its completion.
Audiol Neurotol 2017;22:24-29

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Use of technological aids and interpretation services among children and adults with hearing loss

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Use of technological aids and interpretation services among children and adults with hearing loss

.


from #Audiology via ola Kala on Inoreader http://ift.tt/2rqbJtY
via IFTTT