Summary. Bernard-Soulier syndrome (BSS) is a rare inherited bleeding disorder which is caused by a qualitative or quantitative abnormality of the platelet glycoprotein (GP) Ib/IX/V complex. We examined a patient with BSS to find a molecular basis for the defect underlying this disease. The propositus was a 39-year-old Japanese female with life-long bleeding diathesis. Sequence analysis of the GPIX gene revealed a T → C point mutation at nucleotide 1856 (EMBL, M80478), resulting in Phe 55 (TTT) → Ser(TCT) replacement. This substitution created a new MnlI restriction site in the mutant allele. Restriction analysis revealed that the propositus was homozygous for this sequence, and the same mutation was not detected in 57 unrelated Japanese subjects. Since this mutation is located in the leucine-rich motif (LRM) of the GPIX polypeptide, the Phe 55 → Ser substitution may result in an alteration of the LRM which leads to the impaired surface expression of GPIb/IX/V complex, a characteristic of BSS.
A 26-year-old man, diagnosed with acute myelogenous leukemia had multiple inflammatory pseudotumors (IPT) in the liver. The patient presented complete remission after remission induction therapy, and then showed right upper quadrant discomfort and intermittentfever. An ultrasonography disclosed multiple hypoechoic nodules in the liver. A biopsy of the nodules showed focal liver cell necrosis with scant inflammatory cells, compatible with IPT. After several courses of chemotherapy, the nodules in the liver increased. The second liver biopsy of the nodule showed fibrosis. Multiple IPTs in the liver should be distinguished from abscess and metastatic nodules.
(2), 95-107 Effects of etoposide (VP-16) and cytosine arabinoside (Ara-C) on the cell cycle of HL-60 and THP-1 cells were studied by flow cytometry using the bromodeoxyuridine (BrdU)/DNA assay technique to investigate the efficacy of VP-16 for monocytic leukemia cells. VP-16 inhibited the proliferation of THP-1 cells more strongly than that of HL-60 cells at any concentrations used at 24 and 48 hr. VP-16 arrested HL-60 and THP-1 cells in the G2 /M phase and reduced them in the Go/G1 and early S phase at higher concentrations. There was no significant difference in the percentage of G2/M phase cells at the same concentration between both cells. However, reduction in the Go/G, and early S phase cells was more marked in THP-1 than HL-60 cells significantly. On the other hand, Ara-C perturbed the cell cycle of HL-60 cells more than that of THP-1 cells at 24 and 48 hr. These results suggest that the effects of VP-16 on the cell cycle may be more intense in THP-1 than HL-60 cells, and support the efficacy of VP-16 for treating monocytic leukemia in vivo. flow cytometry; cell cycle; bromodeoxyuridine (BrdU); etoposide (VP-16); cytosine arabinoside (Ara-C) Etoposide (VP-16), a newly developed semisynthetic derivative of podophyllotoxin (Loike and Horwitz 1976;Roberts et al. 1980), is recently available for the treatment of acute leukemias and malignant lymphomas, and has been found useful for relapsed or refractory cases (Mathe et al. 1974;Bishop et al. 1990). This drug is considered more effective for patients with monocytic leukemia than for those with other types of leukemia (Mathe et al. 1974;Bernasconi et al. 1982;
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