Robert L. Janco

Learn More
Chronic joint disease from repeated bleeding into joints is a serious complication of hemophilia. To measure the extent of and to identify risk factors for deviations from normal in joint range of motion (ROM), we used cross-sectional data collected from 4343 males with hemophilia aged 2 to 19 years who received care at 136 US hemophilia treatment centers(More)
Radioimmunoassays for both human copper-zinc and manganous superoxide dismutases (Cu-Zn SOD and Mn SOD, respectively) have been developed, validated, and utilized to measure the concentrations of these enzymes in cultured monocytes. Monocyte Mn SOD increased 4.7-fold over basal during 3 days of culture, an increase that was markedly enhanced by stimulation(More)
Hemophilia A is an X chromosome-linked disorder resulting from deficiency of factor VIII, an important protein in blood coagulation. A large number of disease-producing mutations have been reported in the factor VIII gene. However, a comprehensive analysis of the mutations has been difficult because of the large gene size, its many scattered exons, and the(More)
A DNA polymorphism for an Xbal site in intron 22 of the human factor VIII:C gene extends the utility of DNA methods for carrier detection in families segregating for hemophilia A. While the DNA polymorphism detected by a BclI site in intron 18 of the factor VIII:C gene was informative for 41% of females studied, the BglI/intron 25 polymorphism provided no(More)
The factor IX gene has a G + C content of approximately 40% in all mammalian species examined. In human factor IX, C----T and G----A transitions at the dinucleotide CpG are elevated at least 24-fold relative to other transitions. Can the G + C content be explained solely by this hot spot of mutation? Using our mathematical model, we show that the elevation(More)
Systemic metastases from central nervous system germinomas are exceedingly rare, and when they occur lead to fatal outcomes. The authors report the case of a 10-year-old girl who presented with metastatic involvement of the rib and pelvis 2.5 years after surgical resection and radiation therapy for a suprasellar dysgerminoma. After combination chemotherapy,(More)
Magnetic resonance (MR) imaging of the knee was performed in 10 patients with hemophilia. The periarticular and subchondral abnormalities were classified according to the signal intensity from these regions on T1- and T2-weighted pulse sequences. Periarticular abnormalities were detected in 50% of the hemophiliac joints, and fibrous changes were noted in(More)
To date the only point mutations demonstrated to cause hemophilia are C to T transitions in TaqI sites. These were detected by screening Southern blots with cloned factor VIII probes. During the development of improved methods for detecting and analyzing mutations in genomic DNA, a novel G to C transversion mutation has been identified. This rare(More)
Human peripheral blood mononuclear cells exposed to the synthetic chemotactic factor n-formyl-methionyl-leucyl-phenylalanine (FMLP) were enhanced in their ability to generate superoxide anion (O-2), hydroxyl radical (OH.), and chemiluminescence when later exposed to phorbol myristate acetate (PMA). When compared to oxidative responses of cells treated with(More)