遺伝性血液凝固異常、遺伝性血液凝固疾患
- 関
- inherited blood coagulation disorder
WordNet
- bring disorder to (同)disarray
- 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" (同)upset
- a disturbance of the peace or of public order
- receive from a predecessor; "The new chairman inherited many problems from the previous chair"
- obtain from someone after their death; "I inherited a castle from my French grandparents"
- receive by genetic transmission; "I inherited my good eyesight from my mother"
- not arranged in order (同)unordered
PrepTutorEJDIC
- 〈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
- (…から)〈財産・権利・称号など〉‘を'『相続する』《+『名』+『from』+『名』》 / (…から)〈体質・性質など〉‘を'『受け継ぐ』《+『名』+『from』+『名』》 / (前任者・前代から)…‘を'受け継ぐ,継承ぐ,継承する《+『名』+『from』+『名』》 / 財産を相続する
- 凝固,凝結
UpToDate Contents
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English Journal
- Association between inherited thrombophilia and impaired right ventricular function in deep vein thrombosis without symptomatic pulmonary embolism.
- Asgun HF1, Kirilmaz B, Saygi S, Ozturk O, Silan F, Karatag O, Kosar S, Ozdemir O.Author information 11Department of Cardiovascular Surgery, Canakkale Onsekiz Mart University, Canakkale, Turkey.AbstractThe aim was to evaluate the right ventricular function in patients with inherited thrombophilia and deep vein thrombosis (DVT) without pulmonary embolism. A total of 38 patients with DVT without symptomatic pulmonary embolism and 30 patients with varicose veins were enrolled. Clinical data, echocardiography, and 2 thrombophilic mutations were analyzed. Factor V Leiden (FVL) polymorphism was significantly frequent in the study group (P = .007). The difference in prothrombin G20210A polymorphism between the study and control groups was at a near-significant level (P = .058). There was statistically significant decrease in tricuspid annular plane systolic excursion values in patients with FVL and prothrombin G20210A polymorphism. Combined FVL and prothrombin G20210A polymorphisms were more closely related to the decrease in this value (P = .006). Deep vein thrombosis had no additional adverse effects on right ventricle. Impaired right ventricular systolic function occurs in FVL and prothrombin G20210A polymorphisms.
- Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis.Clin Appl Thromb Hemost.2014 Apr;20(3):270-7. doi: 10.1177/1076029612460426. Epub 2012 Sep 18.
- The aim was to evaluate the right ventricular function in patients with inherited thrombophilia and deep vein thrombosis (DVT) without pulmonary embolism. A total of 38 patients with DVT without symptomatic pulmonary embolism and 30 patients with varicose veins were enrolled. Clinical data, echocard
- PMID 22992348
- Detection of Hemophilia A Carriers in Azeri Turkish Population of Iran: Usefulness of HindIII and BclI markers.
- Moharrami T1, Derakhshan SM, Pourfeizi AA, Khaniani MS.Author information 11Department of Medical genetics, Tabriz University of Medical Sciences, Tabriz, Iran.AbstractHemophilia A (HA) is an inherited X-linked coagulation disorder caused by the deficiency of factor VIII (FVIII). Linkage analysis is a common indirect method for the detection of female carriers in families with HA. In the current study, 173 patients from 30 unrelated families with HA were recruited from the Azeri Turkish population of northwest Iran and analyzed for BclI and HindIII markers by polymerase chain reaction-restriction fragment length polymorphism. We investigated the potential of using these markers for the detection of mutation in carriers through linkage analysis, which would be of tremendous use in prenatal diagnosis. Among the tested women, 47% and 35% were found to be heterozygous for BclI and HindIII polymorphic markers, respectively. The BclI and HindIII markers were informative for the detection of 63% and 17% potential carriers, respectively, demonstrating the effectiveness of the BclI marker for the detection of HA carriers among the Azeri Turkish population.
- Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis.Clin Appl Thromb Hemost.2014 Mar 25. [Epub ahead of print]
- Hemophilia A (HA) is an inherited X-linked coagulation disorder caused by the deficiency of factor VIII (FVIII). Linkage analysis is a common indirect method for the detection of female carriers in families with HA. In the current study, 173 patients from 30 unrelated families with HA were recruited
- PMID 24671757
- Clinical syndromes associated with acquired antithrombin deficiency via microvascular leakage and the related risk of thrombosis.
- Ornaghi S1, Barnhart KT2, Frieling J3, Streisand J3, Paidas MJ4.Author information 1Yale Women and Children's Center For Blood Disorders, Department of Obstetrics, Gynecology and Reproductive Sciences, Yale University School of Medicine, 333 Cedar Street, New Haven, CT, USA; Department of Obstetrics and Gynecology, University of Milan-Bicocca, via Pergolesi 33, Monza, MB, Italy. Electronic address: sara.ornaghi@gmail.com.2Department of Obstetrics and Gynecology, University of Pennsylvania, Philadelphia, PA, USA.3rEVO Biologics 175 Crossing Boulevard, Framingham, MA 01702, USA.4Yale Women and Children's Center For Blood Disorders, Department of Obstetrics, Gynecology and Reproductive Sciences, Yale University School of Medicine, 333 Cedar Street, New Haven, CT, USA.AbstractAntithrombin (AT) is a 65kDa glycoprotein belonging to a group of inhibitory factors known as serpins (serine protease inhibitors). It plays a critical role in the inhibition of coagulation and inflammation processes within the environment of the vascular endothelium. Inadequate levels of functional AT in plasma results in an increased risk of thrombotic events, both venous and arterial. AT deficiency can be inherited or acquired. Congenital AT deficiency is the most severe inherited thrombophilic condition with an odds ratio of 20 for the increased risk of venous thrombosis. Acquired AT deficiency occurs in a variety of physiologic and pathologic medical conditions with similar risks of increased thrombosis. In this article, we review clinical settings characterized by an acquired AT deficiency largely or partly subsequent to protein microvascular leakage. Other different mechanisms of AT depletion are implied in some clinical conditions together with endothelial loss, and, therefore, outlined. In addition, we provide a description of the current knowledge on the specific mechanisms underlying endothelial AT leakage and on the consequences of this protein decrease, specifically looking at thrombosis. We identify potential directions of research that might prove useful in patients with acquired AT deficiency.
- Thrombosis research.Thromb Res.2014 Feb 21. pii: S0049-3848(14)00093-0. doi: 10.1016/j.thromres.2014.02.014. [Epub ahead of print]
- Antithrombin (AT) is a 65kDa glycoprotein belonging to a group of inhibitory factors known as serpins (serine protease inhibitors). It plays a critical role in the inhibition of coagulation and inflammation processes within the environment of the vascular endothelium. Inadequate levels of functional
- PMID 24593911
Japanese Journal
- 後天性第XIII/13因子欠乏症の診断と治療:―全ての難病指定医のために―
- 濃厚な深部静脈血栓の家族歴を有するプロテインS欠乏症の若年女性
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★リンクテーブル★
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- 英
- inherited coagulation disorder、inherited blood coagulation disorder
- 関
- 遺伝性血液凝固疾患
[★]
- 英
- inherited coagulation disorder、inherited blood coagulation disorder
- 関
- 遺伝性血液凝固異常
[★]
遺伝性血液凝固異常、遺伝性血液凝固疾患
- 関
- inherited coagulation disorder
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- 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)
- 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
- disease <> illness <> disorder
- 乱す、乱雑にする。(人)の(心身の)調子を狂わせる。
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血液凝固異常、血液凝固障害、凝固異常、凝固障害
- 関
- blood coagulation disorder、coagulopathy
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- 関
- hereditary、heredity、inheritance
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- 関
- hereditary、heritable、inheritable、inheritable character