[Investigation of the Pathophysiology and Diagnostic Methods Through a Case of Acute HIV Infection in which the Western Blot Method Remained Negative Over the Long Term and the 4th Generation Screening Assay Became Negative for a Certain Period of Time after Initiating Antiretroviral Therapy].

Unlabelled: Confirmatory tests using Western blot (WB) and HIV-1 nucleic acid testing (HIV-1 RNA) following a positive screening test are required for the diagnosis of HIV-1 infection according to the current Japanese guidelines for HIV-1/2 diagnosis. We report herein on a rare case in a patient who remained negative for WB over 10 months in spite of being positive by fourth-generation immunoassays (4thGIA) and who subsequently seroreverted by 4thGIA for three months after initiating antiretroviral therapy.

Case: A man in his early twenties previously visited a hospital because of fever in October 2012.

Genotypic and phenotypic features of Japanese patients with mild to moderate hemophilia A.

Hemophilia A is the most common inherited bleeding disorder. To better understand the genotypic and phenotypic features of Japanese patients with mild to moderate hemophilia A, we studied 29 unrelated patients with more than 1 % FVIII activity (FVIII:C). Differences were observed in nine of 21 patients in measured FVIII:C levels between the one-stage clotting and chromogenic assays.

[Prevalence of chronic kidney disease among HIV-infected individuals in Japan--a report from two tertiary hospitals].

Background: The improved survival of subjects with human immunodeficiency virus (HIV) has been accompanied by an increased prevalence of chronic kidney disease (CKD). Epidemic of CKD among those with HIV has not yet been evaluated in multiple tertiary hospitals in Japan.

Methods: A cross-sectional study was conducted in 2011 at Tokyo Metropolitan Komagome Hospital (TMKH) and Tokyo Medical University Hospital (TMUH).

[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.

[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.