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Current Overview of Osteogenesis Imperfecta.
http://hdl.handle.net/10422/00013022
http://hdl.handle.net/10422/00013022ef2bf0f1-ee96-482c-96fb-f28c846ebef2
名前 / ファイル | ライセンス | アクション |
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medicina57050464 (885.5 kB)
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This article is an open access articledistributed under the terms and
conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). |
Item type | 学術雑誌論文 / Journal Article(1) | |||||
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公開日 | 2021-06-15 | |||||
タイトル | ||||||
タイトル | Current Overview of Osteogenesis Imperfecta. | |||||
言語 | ||||||
言語 | eng | |||||
キーワード | ||||||
言語 | en | |||||
主題Scheme | Other | |||||
主題 | genetic testing | |||||
キーワード | ||||||
言語 | en | |||||
主題Scheme | Other | |||||
主題 | mesenchymal stem cell transplantation | |||||
キーワード | ||||||
言語 | en | |||||
主題Scheme | Other | |||||
主題 | osteogenesis imperfecta | |||||
キーワード | ||||||
言語 | en | |||||
主題Scheme | Other | |||||
主題 | skeletal dysplasia prenatal diagnosis | |||||
資源タイプ | ||||||
資源タイプ識別子 | http://purl.org/coar/resource_type/c_6501 | |||||
資源タイプ | journal article | |||||
著者 |
DEGUCHI, Mari
× DEGUCHI, Mari× TSUJI, Shunichiro× KATSURA, Daisuke× KASAHARA, Kyoko× KIMURA, Fuminori× MURAKAMI, Takashi |
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著者別名 |
出口, 真理
× 出口, 真理× 辻, 俊一郎× 桂, 大輔× 笠原, 恭子× 木村, 文則× 村上, 節 |
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抄録 | ||||||
内容記述タイプ | Abstract | |||||
内容記述 | Osteogenesis imperfecta (OI), or brittle bone disease, is a heterogeneous disorder characterised by bone fragility, multiple fractures, bone deformity, and short stature. OI is a heterogeneous disorder primarily caused by mutations in the genes involved in the production of type 1 collagen. Severe OI is perinatally lethal, while mild OI can sometimes not be recognised until adulthood. Severe or lethal OI can usually be diagnosed using antenatal ultrasound and confirmed by various imaging modalities and genetic testing. The combination of imaging parameters obtained by ultrasound, computed tomography (CT), and magnetic resource imaging (MRI) can not only detect OI accurately but also predict lethality before birth. Moreover, genetic testing, either noninvasive or invasive, can further confirm the diagnosis prenatally. Early and precise diagnoses provide parents with more time to decide on reproductive options. The currently available postnatal treatments for OI are not curative, and individuals with severe OI suffer multiple fractures and bone deformities throughout their lives. In utero mesenchymal stem cell transplantation has been drawing attention as a promising therapy for severe OI, and a clinical trial to assess the safety and efficacy of cell therapy is currently ongoing. In the future, early diagnosis followed by in utero stem cell transplantation should be adopted as a new therapeutic option for severe OI. | |||||
書誌情報 |
en : Medicina (Lithuania) 巻 57, 号 5, p. 465, 発行日 2021-05-10 |
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出版者 | ||||||
出版者 | MDPI AG | |||||
ISSN | ||||||
収録物識別子タイプ | ISSN | |||||
収録物識別子 | 1010660X | |||||
PMID | ||||||
関連タイプ | isIdenticalTo | |||||
識別子タイプ | PMID | |||||
関連識別子 | 34068551 | |||||
PMCID | ||||||
識別子タイプ | URI | |||||
関連識別子 | http://www.ncbi.nlm.nih.gov/pmc/articles/pmc8151368/ | |||||
関連名称 | PMC8151368 | |||||
DOI | ||||||
関連タイプ | isIdenticalTo | |||||
識別子タイプ | DOI | |||||
関連識別子 | https://doi.org/10.3390/medicina57050464 | |||||
関連名称 | 10.3390/medicina57050464 | |||||
権利 | ||||||
権利情報 | © 2021 by the authors. Licensee MDPI, Basel, Switzerland. | |||||
フォーマット | ||||||
内容記述タイプ | Other | |||||
内容記述 | ||||||
著者版フラグ | ||||||
出版タイプ | VoR | |||||
出版タイプResource | http://purl.org/coar/version/c_970fb48d4fbd8a85 | |||||
資源タイプ | ||||||
内容記述タイプ | Other | |||||
内容記述 | Journal Article |