関: hemophilia B

WordNet

an impairment of health or a condition of abnormal functioning
a Christian holiday celebrating the birth of Christ; a quarter day in England, Wales, and Ireland (同)Christmas_Day, Xmas, 40902
period extending from Dec. 24 to Jan. 6 (同)Christmastide, Christmastime, Yule, Yuletide, Noel
caused by or altered by or manifesting disease or pathology; "diseased tonsils"; "a morbid growth"; "pathologic tissue"; "pathological bodily processes" (同)morbid, pathologic, pathological

PrepTutorEJDIC

(体の)『病気』,疾患 / (精神・道徳などの)病気,病弊
女性の話術芸人 =diseur
(また『Christmas Day』)『クリスマス』,キリスト降誕祭(12月25日) / =Christmastide
病気にかかった / 病的な,不健全な(morbid)

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2014/05/19 07:10:38」(JST)

wiki en

Haemophilia B (or hemophilia B) is a blood clotting disorder caused by a mutation of the Factor IX gene, leading to a deficiency of Factor IX. It is the second most common form of haemophilia, rarer than haemophilia A. It is sometimes called Christmas disease, named after Stephen Christmas, the first patient described with this disease.^[1] In addition, the first report of its identification was published in the Christmas edition of the British Medical Journal.^[2]

Treatment

Treatment (bleeding prophylaxis) is by intravenous infusion of factor IX. Factor IX has a longer half life than factor VIII (Deficient in Haemophilia A) and as such factor IX can be transfused less frequently.

Genetics

The factor IX gene is located on the X chromosome (Xq27.1-q27.2). It is an X-linked recessive trait, which explains why, as in haemophilia A, usually only males are affected. 1 in 20,000-30,000 males are affected.

Pathophysiology

Factor IX deficiency leads to an increased propensity for haemorrhage. This is in response to mild trauma or even spontaneously, such as in joints (haemarthrosis) or muscles.

European royal families

A study published in 2009 identified the blood disease affecting the royal families of Great Britain, Germany, Russia and Spain as haemophilia B on the basis of genetic markers.^[3]^[4]

References

^ Christmas' disease at Who Named It?
^ Biggs R, Douglas AS, MacFarlane RG, Dacie JV, Pitney WR, Merskey C, O'Brien JR (1952). "Christmas disease: a condition previously mistaken for haemophilia". Br Med J 2 (4799): 1378–82. doi:10.1136/bmj.2.4799.1378. PMC 2022306. PMID 12997790.
^ Michael Price (8 October 2009). "Case Closed: Famous Royals Suffered From Hemophilia". ScienceNOW Daily News. AAAS. Retrieved 9 October 2009.
^ Evgeny I. Rogaev et al. (8 October 2009). "Genotype Analysis Identifies the Cause of the "Royal Disease"". Science. Retrieved 9 October 2009.

External links

GeneReviews/NCBI/NIH/UW entry on Hemophilia B
Hemophilia: What is it? at CSHL Your Genes, Your Health
hemophilia B at GPnotebook

UpToDate Contents

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1. 血友病A・血友病B：予防を含めた日常的なマネージメント hemophilia a and b routine management including prophylaxis
2. 血友病の臨床症状および診断 clinical manifestations and diagnosis of hemophilia
3. 血友病A・血友病Bに伴う出血の治療と周術期マネージメント treatment of bleeding and perioperative management in hemophilia a and b
4. 血友病患者に生じる慢性合併症と加齢に伴い生じる併存症 chronic complications and age related comorbidities in people with hemophilia
5. 血友病の遺伝学 genetics of the hemophilias

English Journal

CRISPR/Cas9-mediated somatic correction of a novel coagulator factor IX gene mutation ameliorates hemophilia in mouse.

Guan Y1, Ma Y2, Li Q3, Sun Z4, Ma L1, Wu L1, Wang L1, Zeng L1, Shao Y1, Chen Y1, Ma N3, Lu W1, Hu K1, Han H5, Yu Y6, Huang Y3, Liu M7, Li D8.
EMBO molecular medicine.EMBO Mol Med.2016 Mar 10. pii: e201506039. doi: 10.15252/emmm.201506039. [Epub ahead of print]
The X-linked genetic bleeding disorder caused by deficiency of coagulator factor IX, hemophilia B, is a disease ideally suited for gene therapy with genome editing technology. Here, we identify a family with hemophilia B carrying a novel mutation, Y371D, in the human F9 gene. The CRISPR/Cas9 system
PMID 26964564

Ultrasound targeted hepatic delivery of Factor IX in hemophiliac mice.

Anderson CD1, Moisyadi S2, Avelar A3, Walton CB3, Shohet RV3.
Gene therapy.Gene Ther.2016 Mar 9. doi: 10.1038/gt.2016.23. [Epub ahead of print]
Ultrasound Targeted Microbubble Destruction (UTMD) was used to direct the delivery of plasmid and transposase-based vectors encoding human factor IX (hFIX) to the livers of Hemophilia B (FIX -/-) mice. The DNA vectors were incorporated into cationic lipid microbubbles, injected intravenously, and tr
PMID 26960037

Pharmacokinetics, Efficacy, and Safety of Nonacog Alfa in Previously Treated Patients with Moderately Severe to Severe Hemophilia B.

Korth-Bradley JM1, Rendo P2, Smith L2, Altisent C3.
Clinical therapeutics.Clin Ther.2016 Mar 8. pii: S0149-2918(16)30075-3. doi: 10.1016/j.clinthera.2016.02.015. [Epub ahead of print]
PURPOSE: Nonacog alfa, a recombinant factor IX (FIX) product, is used for FIX replacement in the treatment and prevention of bleeding events in patients with hemophilia B. This study aimed to provide supplemental pharmacokinetic (PK), efficacy, and safety data for nonacog alfa when administered as p
PMID 26969334

Japanese Journal

誰が血友病B（第IX因子欠乏症）を発見したか？:―忘れられたパイオニアたちの貢献

齋藤英彦
日本血栓止血学会誌 23(3), 274-279, 2012
NAID 130002077024

食物アレルギーに対応した献立作成と展開

有尾正子,山本景子,小野内初美 [他],渡辺香織,大土早紀子,安藤京子
研究紀要 30, 9-16, 2009-03
… Receently, the number of infants who have the disease of the allergy to food increases. … Our college holds the Christmas party since 2003 so that it may enjoy oneself over meal together for the family who has the child of the allergy to food. …
NAID 110007329281