[Double mutation, a 2-bp deletion and Val211Ile, in the blood coagulation factor IX gene of a patient with severe hemophilia B].

Hemophilia B is an X-linked bleeding disorder caused by the absence or reduced activity of coagulation factor IX (FIX). Here, we report a double mutation in the FIX gene (F9) in a Japanese patient with severe hemophilia B. FIX activity (FIX:C) was measured with a one-step functional assay.

Thin layer chromatography/fluorescence detection of 3,4-methylenedioxy-methamphetamine and related compounds.

A rapid and sensitive method for the detection of six methylenedioxylatedphenethylamines, 3,4-methylenedioxymethamphetamine (MDMA); 3,4-methylenedioxyamphetamine; 3,4-methylenedioxyethylamphetamine; N-methyl-1-(3,4-methylenedioxyphenyl)-2-butamine; N-methyl-1-(3,4-methylenedioxyphenyl)-3-butamine; and 3,4-methylenedioxydimethylamphetamine, by thin-layer chromatography with fluorescence detection is proposed. These compounds form fluorophores on the developing plate following spraying with a reagent consisting of sodium hypochlorite, potassium hexacyanoferrate (III), and sodium hydroxide, and heating for 3 min at 100 degrees C. Blue fluorescent spots were observed under ultraviolet light in a wavelength range of 250-400 nm.

[Characterization of a large deletion that leads to congenital factor XIII deficiency].

Congenital factor XIII deficiency is a rare bleeding disorder that is inherited in an autosomal recessive manner with a frequency of 1 per 2 million individuals in the human population. In Japan, 53 cases of factor XIII deficiency were registered in the national survey for blood coagulation disorders in 2006. One hundred twenty-three cases were listed in the international Factor XIII Registry (http://www.

[Introduction of international normalized ratio of prothrombin time to evaluate multiple depletions of coagulation factors].

Prothrombin time(PT) is utilized in worldwide as a global coagulation test reflected multiple depletions of coagulation factors in diseases such as severe liver dysfunction and Disseminated Intravascular Coagulation(DIC). However, standardization of regents and result reporting methods are not established yet except International Normalized Ration(INR) for control of oral anticoagulant therapy(OAT). We evaluated whether INR is capable for defect of multiple coagulation factors except OAT, using absorbed plasma and different origins of thromboplastin; human recombinant, human placenta, cultured human cell and rabbit brain.