Problem and Assignment for Distinguishing the Usher Syndrome Type
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- Iwasaki Satoshi
- Department of Hearing Implant Sciences, Shinshu University
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- Yoshimura Hidekane
- Department of Otolaryngology, Shinshu University
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- Takeichi Norito
- Department of Otolaryngology, Hokkaido University
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- Satou Hiroaki
- Department of Otolaryngology, Iwate University
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- Ishikawa Kotaro
- Department of Otolaryngology, Jichi Univeristy
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- Kaga Kimitaka
- Department of Otolaryngology, Tokyo Medical center
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- Kumakawa Kozou
- Department of Otolaryngology, Toranomon Hospital
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- Nagai Kyoko
- Department of Otolaryngology, Gunma University
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- Furuya Nobuhiko
- Department of Otolaryngology, Gunma University
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- Ikezono Tetsuo
- Department of Otolaryngology, Saitama University
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- Nakanishi Hiroshi
- Department of Otolaryngology, Hamamatsu University
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- Naitou Yasu
- Department of Otolaryngology, Kobe Hospital
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- Fukushima Kunihiro
- Department of Otolaryngology, Okayama University
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- Tono Tetsuya
- Department of Otolaryngology, Miyazaki University
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- Kimitsuki Takashi
- Department of Otolaryngology, Kyushu University
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- Nishio Shinya
- Department of Otolaryngology, Shinshu University
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- Takumi Yutaka
- Department of Hearing Implant Sciences, Shinshu University Department of Otolaryngology, Shinshu University
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- Usami Shinichi
- Department of Otolaryngology, Shinshu University
Bibliographic Information
- Other Title
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- Usher症候群の臨床的タイプ分類の問題点
- Usher ショウコウグン ノ リンショウテキ タイプ ブンルイ ノ モンダイテン
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Abstract
Usher syndrome is an autosomal-recessive disorder that causes bilateral sensorineural hearing loss, retinitis pigmentosa (RP), and occasionally vestibular dysfunction. Usher syndrome types 1, 2, and 3 can be distinguished by differences in audiovestibular features. The objectives of this retrospective study were to evaluate 26 patients with Usher syndrome clinically. The 26 patients (male: 12 cases, female: 14 cases) with Usher syndrome, with a clinical diagnosis based on symptoms of bilateral sensorineural hearing loss and RP, had been registered from 13 hospitals as a multicenter study. We assessed the clinical history and performed audiovestibular and ophthalmologic examinations, and genetic testing. Eleven of the patients were classified as having Usher type 1 (38.5%), 6 with Usher type 2 (23.1%), and 9 with Usher type 3 (38.5%). However, many patients with atypical Usher type 1 (70%) and type 2 (83.3%) were found compared with Usher type 3 (10%). The conductive rate of vestibular examinations including the caloric test (50%) was low. There were many variations in the clinical symptoms in Usher syndrome patients, therefore the classification of Usher types 1, 2, and 3 has been complicated. We have proposed a flowchart for the diagnosis of Usher types 1, 2, and 3.
Journal
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- Nippon Jibiinkoka Gakkai Kaiho
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Nippon Jibiinkoka Gakkai Kaiho 115 (10), 894-901, 2012
Japanese Society of Otorhinolaryngology-Head and neck surgery
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Details 詳細情報について
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- CRID
- 1390282679987253632
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- NII Article ID
- 40019470844
- 10031121845
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- NII Book ID
- AN00191551
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- COI
- 1:STN:280:DC%2BC3s3gsFSmtg%3D%3D
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- ISSN
- 18830854
- 00306622
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- NDL BIB ID
- 024051943
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- PubMed
- 23214047
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- Text Lang
- ja
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- Data Source
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- JaLC
- NDL
- Crossref
- PubMed
- CiNii Articles
- KAKEN
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- Abstract License Flag
- Disallowed