congenital disorders

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出典(authority):フリー百科事典『ウィキペディア(Wikipedia)』「2012/09/02 16:14:51」(JST)

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英文文献

  • Novel brain imaging approaches to understand acquired and congenital neuro-ophthalmological conditions.
  • Millington RS, Ajina S, Bridge H.Author information Oxford Centre for FMRI of the Brain, John Radcliffe Hospital, University of Oxford, Oxford OX3 9DU, UK *Miss Millington and Dr Ajina have contributed equally to the writing of this work.AbstractPURPOSE OF REVIEW: The arrival of large datasets and the on-going refinement of neuroimaging technology have led to a number of recent advances in our understanding of visual pathway disorders. This work can broadly be classified into two areas, both of which are important when considering the optimal management strategies. The first looks at the delineation of damage, teasing out subtle changes to (specific components of) the visual pathway, which may help evaluate the severity and extent of disease. The second uses neuroimaging to investigate neuroplasticity, via changes in connectivity, cortical thickness, and retinotopic maps within the visual cortex.
  • Current opinion in neurology.Curr Opin Neurol.2014 Feb;27(1):92-7. doi: 10.1097/WCO.0000000000000050.
  • PURPOSE OF REVIEW: The arrival of large datasets and the on-going refinement of neuroimaging technology have led to a number of recent advances in our understanding of visual pathway disorders. This work can broadly be classified into two areas, both of which are important when considering the optim
  • PMID 24300791
  • TMEM16E (GDD1) exhibits protein instability and distinct characteristics in chloride channel/pore forming ability.
  • Tran TT, Tobiume K, Hirono C, Fujimoto S, Mizuta K, Kubozono K, Inoue H, Itakura M, Sugita M, Kamata N.Author information Department of Oral and Maxillofacial Surgery, Graduate School of Biomedical and Health Sciences, Hiroshima University, Hiroshima, Japan.AbstractTMEM16E/GDD1 has been shown to be responsible for the bone-related late-onset disease gnathodiaphyseal dysplasia (GDD), with the dominant allele (TMEM16E(gdd) ) encoding a missense mutation at Cys356. Additionally, several recessive loss-of-function alleles of TMEM16E also cause late-onset limb girdle muscular dystrophy. In this study, we found that TMEM16E was rapidly degraded via the proteasome pathway, which was rescued by inhibition of the PI3K pathway and by the chemical chaperone, sodium butyrate. Moreover, TMEM16E(gdd) exhibited lower stability than TMEM16E, but showed similar propensity to be rescued. TMEM16E did not exhibit cell surface calcium-dependent chloride channel (CaCC) activity, which was originally identified in TMEM16A and TMEM16B, due to their intracellular vesicle distribution. A putative pore-forming domain of TMEM16E, which shared 39.8% similarity in 98 amino acids with TMEM16A, disrupted CaCC activity of TMEM16A via domain swapping. However, the Thr611Cys mutation in the swapped domain, which mimicked conserved cysteine residues between TMEM16A and TMEM16B, reconstituted CaCC activity. In addition, the GDD-causing cysteine mutation made in TMEM16A drastically altered CaCC activity. Based on these findings, TMEM16E possesses distinct function other than CaCC and another protein-stabilizing machinery toward the TMEM16E and TMEM16E(gdd) proteins should be considered for the on-set regulation of their phenotypes in tissues.
  • Journal of cellular physiology.J Cell Physiol.2014 Feb;229(2):181-90. doi: 10.1002/jcp.24431.
  • TMEM16E/GDD1 has been shown to be responsible for the bone-related late-onset disease gnathodiaphyseal dysplasia (GDD), with the dominant allele (TMEM16E(gdd) ) encoding a missense mutation at Cys356. Additionally, several recessive loss-of-function alleles of TMEM16E also cause late-onset limb gird
  • PMID 23843187

和文文献

  • 夜尿症児90例の臨床的検討
  • 村杉 寛子/永木 茂/大澤 眞木子
  • 東京女子医科大学雑誌 83(E1), E205-E211, 2013-01-31
  • 夜尿症90例の臨床検討を行った. 初診時年齢の分布は,6歳と9歳に2峰性のピークがみられ,男女比1.7:1,男児に多くみられる傾向にあった.一次性夜尿は88例,二次性夜尿は2例.病型分類できた83例のうち多尿型41例(49.4%),混合型42例(50.6%)であった.治療の選択薬剤は抗利尿ホルモン 44例, 抗コリン薬40例,三環系抗うつ薬34例,またアラームは4例で使用した(重複あり).生活指導 …
  • NAID 110009559379
  • 先天性皮膚弛緩症と大脳皮質形成異常を伴ったCongenital Disorder of Glycosylation typeIIの1例
  • 津田 祐子/舟塚 真/谷 諭美/西川 愛子/伊藤 進/湯浅 勲/大澤 眞木子
  • 東京女子医科大学雑誌 83(E1), E285-E290, 2013-01-31
  • Congenital disorder of glycosylation (CDG)は、蛋白のグリコシル化に関係する酵素の障害が原因で発症する疾患で、最近20年ほどで概念が確立してきた新しい先天代謝異常症である。 …
  • NAID 110009559367

関連リンク

A congenital disorder, or congenital disease, is a condition existing at birth and often before birth, or that develops during the first month of life (neonatal disease) , regardless of causation. Of these diseases, those characterized by structural ...
List of congenital disorders. From Wikipedia, the free encyclopedia. Jump to: navigation, search. Contents. 1 Numerical; 2 A; 3 B; 4 C; 5 D; 6 E; 7 F; 8 G; 9 H; 10 I; 11 J; 12 K; 13 L; 14 M; 15 N; 16 O; 17 P; 18 R; 19 S; 20 T; 21 U; 22 W; 23 Other ...

関連画像

Congenital Disorders of the Nervous Systemtags cdg congenital disorders of Congenital Disorders Are a Global ProblemCongenital disorders in childrensCongenital Disorders Of Glycosylation to help children with congenital disorders


★リンクテーブル★
拡張検索congenital disorders of glycosylation
関連記事disorder」「congenital」「congenita

congenital disorders of glycosylation」

  [★]

CDGs
CDG
CDG


disorder」

  [★]

  • 障害:個人的苦痛や機能の障害があるので「疾病」とは言えるものの、その背景にある臓器障害がもう一つはっきりしない場合に用いられる。(PSY.9)
  • n.
  • an untidy state; a lack of order or organization (⇔order)
  • violent behaviour of large groups of people
  • an illness that cause a part of the body to stop functioning correctly
  • 注意
disease <> illness <> disorder
  • vt.
  • 乱す、乱雑にする。(人)の(心身の)調子を狂わせる。
  • vi.

WordNet   license wordnet

「bring disorder to」
disarray

WordNet   license wordnet

「a physical condition in which there is a disturbance of normal functioning; "the doctor prescribed some medicine for the disorder"; "everyone gets stomach upsets from time to time"」
upset

WordNet   license wordnet

「a disturbance of the peace or of public order」

PrepTutorEJDIC   license prepejdic

「〈U〉『無秩序』,混乱,乱雑(confusion) / 《しばしば複数形で》(社会的・政治的な)粉争,騒動 / 〈C〉(肉体的・精神的な)不調,異常,障害 / …‘の'秩序を乱す / 〈心身〉‘に'異常を起こさせる」


congenital」

  [★]

  • adj.
  • 生まれつきの、先天的な

WordNet   license wordnet

「present at birth but not necessarily hereditary; acquired during fetal development」
inborn, innate

PrepTutorEJDIC   license prepejdic

「(病気・身体的欠陥など)生まれつきの,先天的な」


congenita」

  [★]

  • adj.
  • (後置するラテン語形容詞)先天性の
congenitalcongenitally
  • ex.




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