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更新文献

2015年1月9日
総説一般「International consensus on hereditary and acquired angioedema.
2015年1月9日
臨床「Clinical and laboratory characteristics that differentiate hereditary angioedema in 72 patients with angioedema.
2015年1月9日
臨床「Perioperative management of tooth extractions for a patient with hereditary angioedema.
2015年1月9日
臨床「Risk of angioedema following invasive or surgical procedures in HAE type I and II--the natural history.
2015年1月9日
臨床「Leukocytosis and high hematocrit levels during abdominal attacks of hereditary angioedema.
2014年2月25日
総説一般「Hereditary Angioedema with Normal C1 Inhibitor.
2014年2月25日
病態解明「Less severe clinical manifestations in patients with hereditary angioedema with missense C1INH gene mutations.
2014年2月25日
病態解明「Antihistamine-resistant Angioedema in Women with Negative Family History: Estrogens and F12 Gene Mutations.
2014年2月25日
病態解明「Hereditary angioedemacaused by the p.Thr309-Lys mutation in the F12 gene: A multifactorial disease.
2014年2月25日
病態解明「Disease-modifying factors in hereditary angioedema: an RNA expression-based screening.
2013年6月7日
総説一般「Hereditary angioedema with normal C1 inhibitor function: consensus of an international expert panel.
2013年3月15日
総説一般「WAO guideline for the management of hereditary angioedema
2013年3月15日
総説一般「TGuideline for Hereditary Angioedema (HAE) 2010 by the Japanese Association for Complement Research - Secondary Publication
2013年3月15日
総説一般「Hereditary angioedema (HAE) in children and adolescents—a consensus on therapeutic strategies
2013年3月15日
臨床「Preprocedural administration of nanofiltered C1 esterase inhibitor to prevent hereditary angioedema attacks.
2013年3月15日
臨床「C1-inhibitor (C1-INH) autoantibodies in hereditary angioedema. Strong correlation with the severity of disease in C1-INH concentrate naïve patients.
2013年3月15日
病態解明「The role of ficolins and MASPs in hereditary angioedema due to C1-inhibitor deficiency
2013年3月15日
病態解明「The autoreactivity of B cells in hereditary angioedema due to C1 inhibitor deficiency
2013年3月15日
病態解明「Treatment with C1-inhibitor concentrate does not induce IgM type anti-C1 inhibitor antibodies in patients with hereditary angioedema
2012年6月13日
総説治療「Target levels of functional C1-inhibitor in hereditary angioedema.
2012年6月13日
臨床「C1 esterase inhibitor concentrate in 1085 Hereditary Angioedema attacks – final results of the I.M.P.A.C.T.2 study.
2012年6月13日
病態解明「Ca(2+) signalling and PKCalpha activate increased endothelial permeability by disassembly of VE-cadherin junctions.
2012年6月13日
総説治療「International consensus and practical guidelines on the gynecologic and obstetric management of female patients with hereditary angioedema caused by C1 inhibitor deficiency.
2012年2月13日
総説治療「Prospective, double-blind, placebo-controlled trials of ecallantide for acute attacks of hereditary angioedema.
2012年2月13日
総説治療「rhC1INH: a new drug for the treatment of attacks in hereditary angioedema caused by C1-inhibitor deficiency.
2012年2月13日
総説治療「New treatment options for acute edema attacks caused by hereditary angioedema.
2012年2月13日
総説治療「Human pasteurized C1-inhibitor concentrate for the treatment of hereditary angioedema due to C1-inhibitor deficiency.
2012年2月13日
臨床「Hereditary Angioedema in Japan: Genetic Analysis of 13 Unrelated Cases.
2012年2月13日
臨床「A Case of Hereditary Angioedema Involving Recurrent Abdominal Attacks.
2012年2月13日
病態解明「Endothelial Cell Function in Patients with Hereditary Angioedema: Elevated Soluble E-selectin Level During Inter-attack Periods.
2012年2月13日
病態解明「Case Report: Obstetrical Complications and Outcome in Two Families with Hereditary Angioedema due toMutation in the F12 Gene.
2012年2月13日
病態解明「Enzymatic pathways in the pathogenesis of hereditary angioedema: the role of C1 inhibitor therapy.
2012年2月13日
その他「A novel mutation in the coagulation factor 12 gene in subjects with hereditary angioedema and normal C1-inhibitor.
2011年10月1日
総説治療「Hereditary angioedema: a clinical review for the otolaryngologist
  1. 国際的なアレルギーおよび免疫学関連の学会が合同で発表した血管性浮腫の総説。様々な血管性浮腫の診断および鑑別点、治療法をまとめている。

    International consensus on hereditary and acquired angioedema.

    Lang DM1, Aberer W, Bernstein JA, Chng HH, Grumach AS, Hide M, Maurer M, Weber R, Zuraw B.

    Ann Allergy Asthma Immunol. 2012 Dec;109(6):395-402. doi: 10.1016/j.anai.2012.10.008.

  2. 72人の血管性浮腫患者をHAE、Mast cell mediated angioedema (AE)、薬剤起因性AE、分類不能AEに分けてHAEの臨床的特徴を明らかにしている。HAEは他のAEに比して発症年齢が若いこと、AEの家族歴があること、AEによる窒息や腹痛の既往があること、C4の値が基準値未満のこと、C1-INH活性が50%未満であることなどが特徴的であり、有用な鑑別点であると述べている。

    Clinical and laboratory characteristics that differentiate hereditary angioedema in 72 patients with angioedema.

    Ohsawa I, Honda D, Nagamachi S, Hisada A, Shimamoto M, Inoshita H, Mano S, Tomino Y.

    Allergol Int. 2014 Dec;63(4):595-602. doi: 10.2332/allergolint.14-OA-0700.

  3. 血管性浮腫の発作を頻回におこすHAE患者の抜歯の前に、人C1-インアクチベーター製剤を投与して安全に抜歯ができたことを報告している。

    Perioperative management of tooth extractions for a patient with hereditary angioedema.

    Sanuki T, Watanabe T, Kurata S, Ayuse T.

    J Oral Maxillofac Surg. 2014 Dec;72(12):2421.e1-3. doi: 10.1016/j.joms.2014.08.026. Epub 2014 Aug 27.

  4. 331人のHAE患者を追跡し、外科的な手技の前にC1-inhibitorを投与した群と、投与しなかった群に分け、周術期における浮腫の発作の有無を検討した。C1-INHを投与しない群では、浮腫の出現リスクが高かった。

    Risk of angioedema following invasive or surgical procedures in HAE type I and II--the natural history.

    Aygören-Pürsün E1, Martinez Saguer I, Kreuz W, Klingebiel T, Schwabe D.

    Allergy. 2013 Aug;68(8):1034-9. doi: 10.1111/all.12186.

  5. 14人のHAE患者を対象に、非発作時、腹痛で来院時、腹痛以外の発作で来院時の採血結果を比較したところ、腹痛発作時には他の群に比して有意な白血球数の増加と好中球数の増加が観察された。また、腹痛発作時には有意な赤血球数やヘマトクリットも上昇も伴っていた。発作時の強いストレスによる好中球上昇と体液の腸管壁や腹水などのサードスペースへの移行を反映していると考えられる。このことは、HAE患者が腹痛で来院した際に、急性腹症を想起する原因とも考えられる。

    Leukocytosis and high hematocrit levels during abdominal attacks of hereditary angioedema.

    Ohsawa I, Nagamachi S, Suzuki H, Honda D, Sato N, Ohi H, Horikoshi S, Tomino Y.

    BMC Gastroenterol. 2013 Aug 2;13:123. doi: 10.1186/1471-230X-13-123.

  6. C1-inhibitorに異常を認めないHAEに関する最新の報告をまとめている。凝固系第XII因子の遺伝子異常と病態との関連については、いまだ謎が多いが現時点での理解が、顔面や口唇、舌の浮腫が比較的多いこと、HAE type I,IIに比して初発年齢が成人にシフトしていること、エストロゲンとの関連治療法がのべられるとともに、第XII因子にすら異常を認めない原因不明のHAEの存在についても言及している。

    Hereditary Angioedema with Normal C1 Inhibitor.

    Bork K.

    Immunol Allergy Clin N Am 33 (2013) 457–470.

  7. HAEの遺伝子型と表現型の関連を調査した研究。C1-inhibitor遺伝子のミスセンスはそれ以外の遺伝子異常と比べて、発作の頻度や重症度が軽くいこと、同時に存在する凝固系第XII因子の遺伝子多型とも関連性があることを示唆している。

    Less severe clinical manifestations in patients with hereditary angioedema with missense C1INH gene mutations.

    Bors A, Csuka D, Varga L, Farkas H, Tordai A, Füst G, Szilagyi A.

    J Allergy Clin Immunol. 2013 Jun;131(6):1708-11. doi: 10.1016/j.jaci.2012.11.015. Epub 2012 Dec 23.

  8. 以前から報告のある常染色体優性遺伝形式をとるHAE-with normalC1-INH 第XII因子のexon9のpoint mutation {c.1032C>A (p.Thr328Lys)}が、エストロゲンの関与が認められるAEが出現する女性をスクリーニングしたところ、142例中の5例に第XII因子の遺伝子異常{c.1032C>A (p.Thr328Lys)}と報告している。

    Antihistamine-resistant Angioedema in Women with Negative Family History: Estrogens and F12 Gene Mutations.

    Konrad Bork, Karin Wulff, Günther Witzke, Christian Stanger, Peter Lohse, Jochen Hardt.

    The American Journal of Medicine (2013) 126, 1142.e9-1142.e14

  9. HAE with normal C1-INHのうちの凝固系第XII因子の異常が関連する症例について、ブラジキニンを分解する酵素群の活性を系統的に測定した最初の論文。症状の出現している症例の中にアミノペプチダーゼPの活性が低下している症例がいることを報告している。

    Hereditary angioedemacaused by the p.Thr309-Lys mutation in the F12 gene: A multifactorial disease.

    Carmen Gomez-Traseira, Alberto Lopez-Lera, Christian Drouet, Margarita Lopez-Trascasa, Elia Perez-Fernandez, Bertrand Favier, Nieves Prior, Teresa Caballero.

    J Allergy Clin Immunol. 2013 Oct;132(4):986-9.e1-5

  10. HAEでは、通常C1-inhibitorの同じ遺伝子異常を持った家系内であっても、個人の症状の性状に関連性が見いだせない。そこで、HAEの家系における末梢血単核球に対してwhole genome RNA expressionを検討した。有意な結果は得られなかったが、症状の出現とウイルス感染や免疫応答に関連するRNAが多い傾向を認める家系、あるいは蛋白の転写やfoldingに関与するRNAの発現が多い傾向を認める家系があった。症例を増やした今後の解析が期待される。

    Disease-modifying factors in hereditary angioedema: an RNA expression-based screening.

    López-Lera A, Cabo FS, Garrido S, Dopazo A, López-Trascasa M.

    Orphanet J Rare Dis. 2013 May 20;8:77. doi: 10.1186/1750-1172-8-77.

  11. HAEのオピニオン・リーダーらにより、C1-inhibitorや、C3、C4、CH50が正常域にある遺伝性の明らかな血管性浮腫について、その臨床的特徴についてまとめた報告である。2000年にHAE type IIIの最初の報告を行ったDr. Borkも共同執筆者に入っている。当初はC1-inhibitorや補体系の異常を認めず、常染色体優性遺伝形式をとりつつも、血管性浮腫を発症するのは女性で、エストロゲン過多の状態が発作を誘発し、凝固因子XIIの遺伝子異常を認める群が、HAE type IIIの臨床像であった。しかし、C1-inhibitorや補体系の異常を認めないが、その他の特徴が合致しない血管性浮腫のほうが臨床的には問題であるため、従来のHAE type IIIも包括した形で"HAE with normal C1-inhibitor"として表現することを提唱している。

    Hereditary angioedema with normal C1 inhibitor function: consensus of an international expert panel.

    Zuraw BL, Bork K, Binkley KE, Banerji A, Christiansen SC, Castaldo A, Kaplan A, Riedl M, Kirkpatrick C, Magerl M, Drouet C, Cicardi M.

    Allergy Asthma Proc. 2012 Nov-Dec;33 Suppl 1:S145-56.

  12. WAO発の初めてのガイドラインであり、①定義と評価、②診断、③予防と発作時の治療、④妊婦、授乳中、小児(ワクチンにも言及)、⑤自己注射について推奨されるアセスメントをグレーディングしており、今後のHAE診療の拠り所となると考えられる。また、予防注射についても、エビデンスはないもの接種による効果の有用性に触れられている。

    WAO guideline for the management of hereditary angioedema

    Craig T, Pürsün EA, Bork K, Bowen T, Boysen H, Farkas H, Grumach A, Katelaris CH, Lockey R, Longhurst H, Lumry W, Magerl M, Martinez-Saguer I, Ritchie B, Nast A, Pawankar R, Zuraw B, Maurer M.

    WAO Journal 2012; 5: 182-199

  13. 補体研究会から発表された日本発のHAEの診断治療のためのガイドライン。欧米のガイドライン(1. Bowen T, et al. J AllergyClin Immunol 2004;114:629-37., 2. Bowen T, et al. Ann Allergy Asthma Immunol 2008;100(Suppl 2):S30-40.)を参考に補体研究会のメンバーにより考案されている。

    TGuideline for Hereditary Angioedema (HAE) 2010 by the Japanese Association for Complement Research - Secondary Publication

    Takahiko Horiuchi1, Hiroyuki Ohi, Isao Ohsawa, Teizo Fujita, Misao Matsushita, Noriko Okada, Tsukasa Seya, Tetsuro Yamamoto, Yuichi Endo, Michiyo Hatanaka, Nobutaka Wakamiya, Masashi Mizuno, Miki Nakao, HidechikaOkada, Hiroshi Tsukamoto, Misako Matsumoto, Norimitsu Inoue, Masaru Nonaka and Taroh Kinoshita

    Allergology International. 2012;61:559-562

  14. 小児のHAE患者に対するマネージメントの総説

    Hereditary angioedema (HAE) in children and adolescents—a consensus on therapeutic strategies

    V. Wahn &W. Aberer &W. Eberl & M. Faßhauer & T. Kühne & K. Kurnik & M. Magerl & D. Meyer-Olson & I. Martinez-Saguer & P. Späth & P. Staubach-Renz & W. Kreuz

    Eur J Pediatr (2012) 171:1339–1348.

  15. Nanofiltrated C1 elastase inhibitor (Cynryze®)の予防投与がHAEの発作抑制に奏功したとする論文

    Preprocedural administration of nanofiltered C1 esterase inhibitor to prevent hereditary angioedema attacks.

    Grant JA, White MV, Li HH, Fitts D, Kalfus IN, Uknis ME, Lumry WR

    Allergy Asthma Proc. 2012 Jul-Aug;33(4):348-53

  16. HAE患者では、C1-inhibitorを投与する以前から抗C1-inhibitor IgM抗体が高率に陽性で、IgMの濃度と重症度が一致する。このため抗C1-inhibitor IgM抗体の測定が、HAEの活動性の指標になる可能性があるとしている。

    C1-inhibitor (C1-INH) autoantibodies in hereditary angioedema. Strong correlation with the severity of disease in C1-INH concentrate naïve patients.

    Varga L, Széplaki G, Visy B, Füst G, Harmat G, Miklós K, Németh J, Cervenak L, Karádi I, Farkas H.

    Mol Immunol. 2007 Feb;44(6):1454-60

  17. HAE患者では、Mannose-binding lectin (MBL)濃度と臨床症状に関連はないが、ficoli-1, ficolin-2とHAEの重症度は有意な負の相関を認める。つまりHAEでは、MBLではなくficolinを介したレクチン経路がHAEの病態に関連しているとしている。

    The role of ficolins and MASPs in hereditary angioedema due to C1-inhibitor deficiency

    Csuka D, Munthe-Fog L, Skjoedt MO, Kocsis A, Zotter Z, Gál P, Varga L, Farkas H, Füst G, Garred P.

    Mol Immunol. 2013 Jan 11;54(3-4):271-277

  18. HAE患者のメモリーB 細胞では、表面マーカー(CD69、CD5、CD21)やTLR-9の発現が上昇していることなどから、患者のB細胞が自己免疫反応を起こしやすい状態であることを示している。HAE患者の自己抗体産生機序の一つと考えられる。

    The autoreactivity of B cells in hereditary angioedema due to C1 inhibitor deficiency

    A. Kessel,* R. Peri,* R. Perricone,†M. D. Guarino,† Z. Vadasz,* R. Novak,* T. Haj,* S. Kivity‡ and E. Toubi

    Clin Exp Immunol 2011, 167: 422–428

  19. HAE患者の血清中に検出される抗C1-INH抗体のタイプはIgMで、発作の重症度やC1-INH製剤の投与とは無関係であり、むしろ家族内で陽性者が集積する傾向があるとしている。

    Treatment with C1-inhibitor concentrate does not induce IgM type anti-C1 inhibitor antibodies in patients with hereditary angioedema

    Lilian Varga, George Füst*, Dorottya Csuka, Henriette Farkas

    Molecular Immunology 48 (2011) 572–576

  20. Target levels of functional C1-inhibitor in hereditary angioedema.

    Hack CE, Relan A, van Amersfoort ES, Cicardi M.

    Allergy. 2012 Jan;67(1):123-30.

  21. C1 esterase inhibitor concentrate in 1085 Hereditary Angioedema attacks – final results of the I.M.P.A.C.T.2 study.

    Craig TJ, Bewtra AK, Bahna SL, Hurewitz D, Schneider LC, Levy RJ, Moy JN, Offenberger J, Jacobson KW, Yang WH, Eidelman F, Janss G, Packer FR, Rojavin MA, Machnig T, Keinecke HO, Wasserman RL.

    Allergy. 2011 Dec;66(12):1604-11.

  22. Ca(2+) signalling and PKCalpha activate increased endothelial permeability by disassembly of VE-cadherin junctions.

    Sandoval R, Malik AB, Minshall RD, Kouklis P, Ellis CA, Tiruppathi C.

    J Physiol. 2001 Jun 1;533(Pt 2):433-45.

  23. International consensus and practical guidelines on the gynecologic and obstetric management of female patients with hereditary angioedema caused by C1 inhibitor deficiency.

    Caballero T, Farkas H, Bouillet L, Bowen T, Gompel A, Fagerberg C, Bjökander J, Bork K, Bygum A, Cicardi M, de Carolis C, Frank M, Gooi JH, Longhurst H, Martínez-Saguer I, Nielsen EW, Obtulowitz K, Perricone R, Prior N; C-1-INH Deficiency Working Group.

    J Allergy Clin Immunol. 2012 Feb;129(2):308-20.

  24. Prospective, double-blind, placebo-controlled trials of ecallantide for acute attacks of hereditary angioedema.

    Stolz LE, Sheffer AL.

    Expert Rev Clin Immunol. 2012 Jan;8(1):25-32.

  25. rhC1INH: a new drug for the treatment of attacks in hereditary angioedema caused by C1-inhibitor deficiency. [Review]

    Varga L. Farkas H.

    Expert Review of Clinical Immunology. 7(2):143-53, 2011 Mar.

  26. New treatment options for acute edema attacks caused by hereditary angioedema.

    Thomas MC, Shah S.

    Am J Health Syst Pharm. 2011 Nov 15;68(22):2129-38.

  27. Human pasteurized C1-inhibitor concentrate for the treatment of hereditary angioedema due to C1-inhibitor deficiency.

    Bork K.

    Expert Rev Clin Immunol. 2011 Nov;7(6):723-33.

  28. Hereditary Angioedema in Japan: Genetic Analysis of 13 Unrelated Cases.

    Yamamoto T, Horiuchi T, Miyahara H, Yoshizawa S, Maehara J, Shono E, Takamura K, Machida H, Tsujioka K, Kaneko T, Uemura N, Suzawa K, Inagaki N, Umegaki N, Kasamatsu Y, Hara A, Arinobu Y, Inoue Y, Niiro H, Kashiwagai Y, Harashima SI, Tahira T, Tsukamoto H, Akashi K.

    Am J Med Sci. 2011 Sep 20.

  29. A Case of Hereditary Angioedema Involving Recurrent Abdominal Attacks.

    Yoshihiro Kasamatsu, Kiyokazu Yoshinoya, Yu Kasamatsu, Tetsuro Yamamoto, Takahiko Horiuchi and Masatoshi Kadoya.

    Intern Med 50: 2911-2914, 2011.

  30. Endothelial Cell Function in Patients with Hereditary Angioedema: Elevated Soluble E-selectin Level During Inter-attack Periods.

    Judit Czúcz & Gyula Schaffer & Dorottya Csuka & Szilvia Walentin & Jan Kunde & Zoltán Prohászka & Henriette Farkas & László Cervenak

    J Clin Immunol DOI 10.1007/s10875-011-9606-7

  31. Case Report: Obstetrical Complications and Outcome in Two Families with Hereditary Angioedema due toMutation in the F12 Gene.

    Olivier Picone,Anne-Claire Donnadieu,Franc¸ois G. Brivet,Catherine Boyer-Neumann,V´eronique Fr´emeaux-Bacchiand René Frydman,

    Obstetrics and Gynecology International、Volume 2010, Article ID 957507, 5 pages、doi:10.1155/2010/957507

  32. Enzymatic pathways in the pathogenesis of hereditary angioedema: the role of C1 inhibitor therapy.

    Kaplan AP.

    J Allergy Clin Immunol. 2010 Nov;126(5):918-25.

  33. A novel mutation in the coagulation factor 12 gene in subjects with hereditary angioedema and normal C1-inhibitor.

    Bork K, Wulff K, Meinke P, Wagner N, Hardt J, Witzke G.

    Clin Immunol. 2011 Oct;141(1):31-5. Epub 2011 Jul 30.

  34. Hereditary angioedema: a clinical review for the otolaryngologist.

    Anon JB.

    Ear Nose Throat J. 2011 Jan;90(1):32-9.

  35. Parameters of the classical complement pathway predict disease severity in hereditary angioedema.

    Csuka D et al.

    Clin Immunol. 2011 Apr;139(1):85-93.

  36. A novel mutation in the coagulation factor 12 gene in subjects with hereditary angioedema and normal C1-inhibitor.

    Bork K et al.

    Clin Immunol. 2011 Jul 30[Epub ahead of print]

  37. Treatment with C1-inhibitor concentrate does not induce IgM type anti-C1 inhibitor antibodies in patients with hereditary angioedema.

    Varga L et al.

    Mol Immunol. 2011 Jan;48(4):572-6.

  38. Standard care impact on angioedema because of hereditary C1 inhibitor deficiency: a 21-month prospective study in a cohort of 103 patients.

    Zanichelli A et al.

    Allergy. 2011 Feb;66(2):192-6.

  39. Risk of laryngeal edema and facial swellings after tooth extraction in patients with hereditary angioedema with and without prophylaxis with C1 inhibitor concentrate: a retrospective study.

    Bork K et al.

    Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2011 Jul;112(1):58-64.

  40. Prospective study of C1 esterase inhibitor in the treatment of successive acute abdominal and facial hereditary angioedema attacks.

    Wasserman RL et al.

    Ann Allergy Asthma Immunol. 2011 Jan;106(1):62-8.

  41. Images in clinical medicine. Angioedema.

    Bramante RM, Rand M.

    N Engl J Med. 2011 Jul 14;365(2):e4.

  42. Hereditary angioedema: Validation of the end point time to onset of relief by correlation with symptom intensity.

    Bernstein JA et al.

    Allergy Asthma Proc. 2011 Jan;32(1):36-42.

  43. Hereditary angioedema: a clinical review for the otolaryngologist.

    Anon JB.

    Ear Nose Throat J. 2011 Jan;90(1):32-9.

  44. DPP-4 inhibitors and angioedema: a cause for concern?

    Byrd JS et al.

    Ann Allergy Asthma Immunol. 2011 May;106(5):436-8.

  45. Angiotensin II receptor blocker-induced angioedema in the oral floor and epiglottis.

    Shino M et al.

    m J Otolaryngol. 2011 Feb 14. [Epub ahead of print]

  46. Mutational spectrum and phenotypes in Danish families with hereditary angioedema because of C1 inhibitor deficiency.

    Bygum A et al.

    Allergy. 2011 Jan;66(1):76-84.

  47. C1-inhibitor: more than a serine protease inhibitor.

    Zeerleder S.

    Semin Thromb Hemost. 2011 Jun;37(4):362-74.

  48. Is there a need for clinical guidelines in the United States for the diagnosis of hereditary angioedema and the screening of family members of affected patients?

    Lunn ML, Santos CB, Craig TJ.

    Ann Allergy Asthma Immunol. 2010 Mar;104(3):211-4.

  49. Economic costs associated with acute attacks and long-term management of hereditary angioedema.

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