نتایج جستجو برای: combined factor v viii deficiency

تعداد نتایج: 1585920  

ژورنال: پژوهش در پزشکی 2006
دکتر امیر هوشنگ محمد علیزاده, , دکتر سید محسن موسوی, , دکتر فرحناز فلاحیان, , دکتر محمد رضا زالی, , دکتر محمد عباسی, , دکتر مهرداد حاجیلویی, , دکتر میترا رنجبر, , دکترمهدی رضازاده, ,

Abstract: Background: Hemophilia is a x-linked deficiency of factor VIII. The aim of the present study was to determine the frequencies of hepatitis B and C infections, markers of inflammation and liver function tests and also to assess the possible association between factor VIII inhibitor and hepatitis B and C infections in hemophiliacs of Hamedan Province of Iran. Materials and methods: Si...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 2010
Miho Nishio Yukiko Kamiya Tsunehiro Mizushima Soichi Wakatsuki Hiroaki Sasakawa Kazuo Yamamoto Susumu Uchiyama Masanori Noda Adam R McKay Kiichi Fukui Hans-Peter Hauri Koichi Kato

Combined deficiency of coagulation factors V and VIII (F5F8D), an autosomal recessive disorder characterized by coordinate reduction in the plasma levels of factor V (FV) and factor VIII (FVIII), is genetically linked to mutations in the transmembrane lectin ERGIC-53 and the soluble calcium-binding protein MCFD2. Growing evidence indicates that these two proteins form a complex recycling betwee...

2014
Bipin P. Kulkarni Sona B. Nair Manasi Vijapurkar Leenam Mota Sharda Shanbhag Shehnaz Ali Shrimati D. Shetty Kanjaksha Ghosh Klaus Brusgaard

BACKGROUND Though rare in occurrence, patients with rare bleeding disorders (RBDs) are highly heterogeneous and may manifest with severe bleeding diathesis. Due to the high rate of consanguinity in many caste groups, these autosomal recessive bleeding disorders which are of rare occurrence in populations across the world, may not be as rare in India. OBJECTIVES To comprehensively analyze the ...

Journal: :Blood 1994
D D Pittman K A Marquette R J Kaufman

Factor V and factor VIII are homologous cofactors in the blood coagulation cascade that have the domain structure A1-A2-B-A3-C1-C2, of which the B domain has extensively diverged. In transfected COS-1 monkey cells, expression of factor VIII is approximately 10-fold less efficient than that of factor V, primarily because of inefficient protein secretion and, to a lesser extent, reduced mRNA expr...

Journal: :Orthopedics 2016
Vybhav Jetty Charles J Glueck Richard A Freiberg Ping Wang

Venous thromboembolism is uncommon after knee arthroscopy, and there are no guidelines for thromboprophylaxis in elective routine knee arthroscopy. Preoperative evaluation of common thrombophilias should provide guidance for postarthroscopy thromboprophylaxis in otherwise healthy patients who are at high risk for venous thromboembolism. This study assessed 10 patients with venous thromboembolis...

Journal: :MMWR. Morbidity and mortality weekly report 1984
P Levine

Reports of hemophilia-associated acquired immunodeficiency syndrome (AIDS) in the United States were first published in July 1982 (1). Since then, the number of U.S. patients with underlying coagulation disorders who develop AIDS has increased each year. In 1981, one U.S. case was reported; in 1982, eight; in 1983, 14; and, as of October 15, 29 cases have been reported in 1984, for a total of 5...

Journal: :Journal of thrombosis and haemostasis : JTH 2005
D Ginsburg

Incomplete penetrance and variable expressivity confound the diagnosis and therapy of most inherited thrombotic and hemorrhagic disorders. For many of these diseases, some or most of this variability is determined by genetic modifiers distinct from the primary disease gene itself. Clues toward identifying such modifier genes may come from studying rare Mendelian disorders of hemostasis. Example...

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