pharyngeal pouch syndrome

咽頭嚢症候群

WordNet

1. send by special mail that goes through diplomatic channels
2. an enclosed space; "the trapped miners found a pocket of air" (同)sac, sack, pocket
3. a small or medium size container for holding or carrying things
4. (anatomy) saclike structure in any of various animals (as a marsupial or gopher or pelican) (同)pocket
5. put into a small bag
6. a pattern of symptoms indicative of some disease
7. a complex of concurrent things; "every word has a syndrome of meanings"
8. of or relating to the throat; "pharyngeal fricatives"
9. having a pouch

PrepTutorEJDIC

1. (革製の)小袋(たばこ入れ・さいふなど);郵便袋;(兵隊の)弾薬袋 / (カンガルーなどの)腹袋 / (動物の)ほお袋 / (目の下の)たるみ
2. (疾患の徴候となる一群の)症徴候,症候群 / (事件・社会的状態などのパターンを示す)徴候形態

UpToDate Contents

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• 1. 下顎、口、口腔、および咽頭の先天異常 congenital anomalies of the jaw mouth oral cavity and pharynx
• 2. 小児におけるギラン・バレー症候群の疫学、臨床症状、および診断 epidemiology clinical features and diagnosis of guillain barre syndrome in children
• 3. 消化管内視鏡検査のための鎮静の概要 overview of procedural sedation for gastrointestinal endoscopy
• 4. 消化管内視鏡検査に対する鎮静の合併症 complications of procedural sedation for gastrointestinal endoscopy
• 5. 成人におけるギラン・バレー症候群の臨床的特徴および診断 clinical features and diagnosis of guillain barre syndrome in adults

English Journal

• Uvrag targeting by Mir125a and Mir351 modulates autophagy associated with Ewsr1 deficiency.

• Kim Y1, Kang YS, Lee NY, Kim KY, Hwang YJ, Kim HW, Rhyu IJ, Her S, Jung MK, Kim S, Lee CJ, Ko S, Kowall NW, Lee SB, Lee J, Ryu H.
• Autophagy.Autophagy.2015 May 6:0. [Epub ahead of print]
• The EWSR1 (EWS RNA-Binding Protein 1/Ewing Sarcoma Break Point Region 1) gene encodes a RNA/DNA binding protein that is ubiquitously expressed and involved in various cellular processes. EWSR1 deficiency leads to impairment of development and accelerated senescence but the mechanism is not known. He
• PMID 25946189

• History and current status of newborn screening for severe combined immunodeficiency.

• Kwan A1, Puck JM2.
• Seminars in perinatology.Semin Perinatol.2015 Apr 30. pii: S0146-0005(15)00021-X. doi: 10.1053/j.semperi.2015.03.004. [Epub ahead of print]
• The development of a T-cell receptor excision circle (TREC) assay utilizing dried blood spots in universal newborn screening has allowed the early detection of T-cell lymphopenia in newborns. Diagnosis of severe combined immunodeficiency (SCID) in affected infants in the neonatal period, while asymp
• PMID 25937517

• Mesodermal expression of Moz is necessary for cardiac septum development.

• Vanyai HK1, Thomas T2, Voss AK3.
• Developmental biology.Dev Biol.2015 Apr 23. pii: S0012-1606(15)00211-0. doi: 10.1016/j.ydbio.2015.04.011. [Epub ahead of print]
• Ventricular septal defects (VSDs) are the most commonly occurring congenital heart defect. They are regularly associated with complex syndromes, including DiGeorge syndrome and Holt-Oram syndrome, which are characterised by haploinsufficiency for the T-box transcription factors TBX1 and TBX5, respec
• PMID 25912687

Japanese Journal

• 第1鰓嚢性瘻孔を伴った第1・第2鰓弓症候群例

• 耳鼻咽喉科臨床 100(9), 747-751, 2007-09-01
• NAID 10019531247

• The 22q11.2 deletion syndrome

• Keio journal of medicine 51(2), 77-88, 2002-06-01
• NAID 10012734065

• 胸腺と血液

• 臨床血液 30(8), 1133-1141, 1989
• NAID 130004918886

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★リンクテーブル★

リンク元	「ディジョージ症候群」
関連記事	「pouch」「pharyngeal」「syndrome」

「ディジョージ症候群」

　　[★]

英

DiGeorge syndrome, DiGeorge's syndrome, DGS

同

DiGeorge症候群、第三・四鰓嚢症候群 third and fourth-pouch/arch syndrome、第三・第四鰓弓症候群 third and fourth branchial arch syndrome、咽頭嚢症候群 pharyngeal pouch syndrome、副甲状腺胸腺無形成症 parathyroid-thymicaplasia

関

免疫不全症候群

概念

• 先天性免疫不全症
• 胸腺無形成、副甲状腺機能低下による低カルシウム血症とテタニー、心臓奇形、顔貌異常(耳介低位、小額症)

遺伝

• 不明？

病因

• 第三・第四鰓弓からの器官発生の異常による。

参考

• 1. DIGEORGE SYNDROME; DGS - OMIM

http://omim.org/entry/188400

• . [charged] DiGeorge syndrome: Pathogenesis, epidemiology, and clinical manifestations - uptodate [1]

「pouch」

　　[★]

• n.

• 嚢、ポーチ

関

bursa、bursae、cysterna、pit、sac

　 　 　 　 　 　

「pharyngeal」

　　[★]

• adj.

• 咽頭の

関

pharynx、throat

　

「syndrome」

　　[★]

• n.

• 症候群