C1 deficiency

C1欠損症

WordNet

1. the 3rd letter of the Roman alphabet (同)c
2. (music) the keynote of the scale of C major
3. a general-purpose programing language closely associated with the UNIX operating system

PrepTutorEJDIC

1. 〈U〉〈C〉(…の)(量・額などの)不足,欠乏《+『of』(『in』)+『名』》 / 〈C〉不足分,不足量,不足額 / 〈C〉(精神・肉体などの)欠陥
2. carbonの化学記号

UpToDate Contents

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• 1. 補体系の遺伝性疾患inherited disorders of the complement system [show details]
  …partial deficiency presenting as atypical hemolytic uremic syndrome (aHUS). A patient with C1q deficiency was treated with fresh frozen plasma infusions over a 10-year period . A small number of cases…
• 2. 後天性C1インヒビター欠損症：臨床症状、疫学、病因、および診断acquired c1 inhibitor deficiency clinical manifestations epidemiology pathogenesis and diagnosis [show details]
  …deficiency. The diagnosis of HUVS and SLE are reviewed elsewhere. There is also congenital C1q deficiency, which is rare (10 to 50 reported cases). More than 90 percent of reported patients with this…
• 3. 遺伝性血管性浮腫（C1インヒビター欠損症による）：病因と診断hereditary angioedema due to c1 inhibitor deficiency pathogenesis and diagnosis [show details]
• 4. 後天性C1インヒビター欠損症：管理および予後acquired c1 inhibitor deficiency management and prognosis [show details]
• 5. （C1インヒビター欠損症による）遺伝性血管浮腫：全般的な管理および長期予防hereditary angioedema due to c1 inhibitor deficiency general care and long term prophylaxis [show details]

English Journal

• A rare cause of recurrent priapism: hereditary angioedema.

• Akyuz M1, Kaya C, Akdogan MF.
• Andrologia.Andrologia.2015 Jun;47(5):600-2. doi: 10.1111/and.12297. Epub 2014 May 28.
• Hereditary angioedema is a rare disease, which is caused by deficiency of compleman c1 esterase inhibitor regulatory protein in the compleman system. Priapism is involuntary, painful and prolonged erection of penis more than 4 h without sexual desire. In this case report, we elucidated a patient di
• PMID 24865240

• Hereditary angioedema and lupus: A French retrospective study and literature review.

• Gallais Sérézal I1, Bouillet L2, Dhôte R3, Gayet S4, Jeandel PY5, Blanchard-Delaunay C6, Martin L7, Mekinian A8, Fain O9.
• Autoimmunity reviews.Autoimmun Rev.2015 Jun;14(6):564-568. doi: 10.1016/j.autrev.2015.02.001. Epub 2015 Feb 4.
• Hereditary angioedema (HAE) is a rare genetic disorder that is primarily caused by a defect in the C1 inhibitor (C1-INH). The recurrent symptoms are subcutaneous edema and abdominal pain. Laryngeal edema, which can also occur, is life threatening if it goes untreated. HAE can be associated with some
• PMID 25660269

• Elevated D-dimers in attacks of hereditary angioedema are not associated with increased thrombotic risk.

• Reshef A1, Zanichelli A, Longhurst H, Relan A, Hack CE.
• Allergy.Allergy.2015 May;70(5):506-13. doi: 10.1111/all.12587. Epub 2015 Feb 23.
• BACKGROUND: Recommended management of attacks of hereditary angioedema (HAE) due to C1 esterase inhibitor (C1-INH) deficiency (C1-INH-HAE) includes therapy with exogenous C1INH. Thrombotic/thromboembolic events (TEE) have been reported with plasma-derived C1INH, but so far none with recombinant huma
• PMID 25640891

Japanese Journal

• BUTYRATE REDUCES FREE CHOLESTEROL ACCUMULATION IN NIEMANN-PICK DISEASE TYPE C1 CELLS (NOVA SCOTIA FORM) THROUGH THE INDUCTION OF ACID SPHINGOMYELINASE

• Oyama Chikako,Hirayama Masashi,Noguchi Atsuko [他],Arai Hirokazu,Takahashi Tsutomu
• 秋田医学 38(3-4), 111-119, 2012-03-00
• … Acid sphingomyelinase (ASM) is a lysosomal enzyme in which an inherited deficiency leads to Niemann-Pick disease types A and B (NPDA/NPDB). …
• NAID 110009004246

• Effect of Dietary Supplementation with Folate on Choline Deficiency-Induced Hyperhomocysteinemia in Rats

• LIU Ying,LIU Yi-Qun,MORITA Tatsuya [他],MORI Makoto,SUGIYAMA Kimio
• Journal of Nutritional Science and Vitaminology 58(1), 20-28, 2012
• … The effects of dietary supplementation with folate (20 mg/kg diet), 2.5% serine, or both on choline deprivation-induced hyperhomocysteinemia were investigated in rats fed a 10% casein diet (10C) or 25% soybean protein diet (25S) to determine whether folate supplementation with or without serine can suppress choline deficiency-induced hyperhomocysteinemia. … There was no significant additive effect between folate and serine, a source of C1 units. …
• NAID 130002103059

• 遺伝性血管性浮腫の全国実態調査

• 岩本 和真,三原 祥嗣,池澤 善郎 [他],秀 道広
• アレルギー 60(1), 26-32, 2011-01-30
• … 脹を,42%はのどの詰まりを,37%は消化器症状を経験していた.また,急性期治療においては,C1インヒビター製剤は29%の患者で使用されていた.【結語】本調査により明らかになった我が国の主要な医療機関で把握されているHAE患者数は,欧米の報告にくらべ少なかった.また,多くのHAE患者では重症化を経験していた一方,C1インヒビター製剤の使用は29%にとどまり,今後患者の生命の危険を回避する体制を構築 …
• NAID 110008440533

Related Links

• C1q deficiency | Genetic and Rare Diseases Information ...

C1q deficiency is a rare disorder associated with recurrent skin lesions, chronic infections, systemic lupus erythematosus (SLE) or SLE-like diseases. It has also been associated with a kidney disease known as mesangial proliferative glomerulonephritis. C1q is a protein and together with other proteins, C1r and C1s, it forms the C1 complex.

• C1 Inhibitor Deficiency and Anesthesia

of C1 INH deficiency are characterized by low or absent levels of C4, C2, and C1 INH during and between attacks. Low C1 and C1q levels suggest acquired C1 INH deficiency rather than HAE. 13, 49 It is important to note that C1 ...

• Clinical Practice Guidelines : C1 Esterase inhibitor deficiency

C1 Esterase inhibitor deficiency (Hereditary Angioedema, HAE) HAE causes recurrent episodes of angioedema in the upper respiratory, gastrointestinal tract or in subcutaneous tissues.

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★リンクテーブル★

リンク元	「C1欠損症」
関連記事	「deficiency」「C」「C1」

「C1欠損症」

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英

C1 deficiency

関

C1

「deficiency」

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• n.

• 不足、欠乏、欠失、欠如、欠損、不十分。栄養不足、栄養素欠乏、欠乏症。(遺伝子)(染色体内の)遺伝子欠失
• 欠けているもの、不足している物。不足分。不完全なもの、欠点のあるもの

関

absence, agenesis, dearth, defect, defective, deficient, deficit, delete, deletion, deletional, depletion, deprivation, deprive, lack, miss, missing, morphological defect, paucity, scarce, scarcity, starve

　

「C」

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• 炭素 carbon
• シトシン cytosine
• システイン cysteine
• シチジン
• セルシウス度 摂氏 degrees Celsius degree C
• 産婦人科領域で「子宮外頚 子宮外頚部 exocervix」を表現するための略語

　 　 　 　

「C1」

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• 環椎 atlas、第一頚椎
• 補体第一成分 first component of complement