The translocation (4;12)(q31;q21) in myelofibrosis associated with myelodysplastic syndrome: impact of the 12q21 breakpoint.
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Aged↗
Biomedical subjects
Katsuyuki Fukutake
Publications and source records attributed to Katsuyuki Fukutake.
Additional cytogenetic changes and previous genotoxic exposure predict unfavorable prognosis in myelodysplastic syndromes and acute myeloid leukemia with der(1;7)(q10;p10).
We analyzed 23 patients with myelodysplastic syndromes (MDS) and acute myeloid leukemia (AML) showing a der(1;7)(q10;p10) [hereafter der(1;7)] to identify the exact predictive factor of this cytogenetic change. Eight (34.8%) patients, including six with MDS and two with AML patients, had a previous history of genotoxic exposure, especially radiation and/or antimetabolites. Patients with der(1;7) consisted of three groups: one third of patients had a previous history of genotoxic agents, one third had additional cytogenetic changes at the time of MDS/AML diagnosis without previous exposure history, and the remaining one third had neither a previous exposure history nor additional cytogenetic changes. The current study demonstrated that the poor outcome of MDS/AML with der(1;7) is caused by the high frequency of associated risk factors (i.e., previous history of genotoxic exposure, the presence of additional cytogenetic changes, or both). Identification of prognostic disadvantage might be required for applying the appropriate strategy in managing MDS/AML patients with rare der(1;7) abnormality.
Acute Disease↗
Difference of progression to AIDS according to CD4 cell count, plasma HIV RNA level and the use of antiretroviral therapy among HIV patients infected through blood products in japan.
BACKGROUND: It is important to examine progression to acquired immunodeficiency syndrome (AIDS) or death and its predictors among human immunodeficiency virus (HIV) infected persons before and after the introduction of the highly active antiretroviral therapy (HAART) available in Japan since 1997. METHODS: The data used were from a survey of persons with HIV infected through blood coagulation factor products in Japan. Progression to AIDS or death during two periods, between January 1994 and March 1997, and between April 1997 and March 2002, were observed. RESULTS: The AIDS-free proportion after 3 years was 74% among 417 participants for the earlier period and 94% among 605 participants in the later one. The hazard ratio of low CD4 cell count (less than 200 cells/microL) was 50.8 for the earlier period and 4.7 for the later one compared with that of 500 cells/microL or more. After adjustment by plasma HIV RNA levels and use of antiretroviral therapy, the hazard ratios of the low CD4 cell count for the later period were still significant. CONCLUSION: The AIDS-free proportion among people with HIV infected through blood products in Japan largely increased after the introduction of HAART. The CD4 cell count remains an important predictor of future progression, but its importance might be less because of HAART.
Acquired Immunodeficiency Syndrome↗
[Laboratory tests of coagulation and fibrinolysis for the diagnosis of rheumatoid arthritis].
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Antithrombin III↗
[Present and expected role of the nurse in Japanese hemophilia care: result of a questionnaire survey of hemophiliacs and their families].
Since 1970, many hemophilia centers have been opened in the United States and Western Europe. In these centers, nurse coordinators (NCs) play an important role as key persons in improving the QOL of hemophiliacs with a variety of problems. On the other hand, NCs have not been stationed in most Japanese hemophilia centers, although many doctors and nurses in charge of hemophilia care desire that NCs participate in hemophilia treatment. Therefore, a survey of hemophiliacs and their families was conducted to clarify the role of the nurse in Japanese hemophilia care. The results obtained from the analysis of responses concerning 393 patients indicated that about two thirds of the respondents had never consulted with nurses in regard to their disease. Although the total number of items of care and support which were offered by nurses to the patients was 739, the total number of these items which were expected to be offered from nurses to the patients was 1078. These results indicate that the introduction of NCs is necessary for hemophilia care in Japan.
Adolescent↗
Five novel and four recurrent point mutations in the antithrombin gene causing venous thrombosis.
We analyzed the antithrombin (AT) gene in 9 unrelated Japanese patients with thrombotic disease. All 7 exons, the splice junctions, and the 5'-flanking region of the AT gene were amplified by polymerase chain reaction and sequenced directly. Nine different point mutations, all in the heterozygous state, were identified. Five novel (M-32T, M89K, L146H, Q159X, and L409P) and 2 previously reported (R132X and R359X) point mutations were identified in patients with type 1 deficiency. Two different missense mutations, R393C and R393H, located in the protease reactive site were detected in patients with type 2 deficiency. No other sequence abnormalities in the AT gene were detected by direct sequencing. None of the mutations was present in 100 alleles from 50 unrelated Japanese control subjects Although type 1 deficiency was diagnosed in patient 7 on the basis of approximately 50% AT antigen and activity levels, the data indicated that the novel L409P mutation is a type 2 pleiotropic effects (PE) deficiency because its location in the C-terminal portion of the reactive site is similar to the locations of reported PE type mutations, and it is highly conserved among other serpins.
Adolescent↗
Prevalence of hepatitis C virus infection in coagulation disorders in Japan.
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Adolescent↗
[Henoch-Schönlein purpura nephritis in a patient infected with the human immunodeficiency virus].
There are various forms of renal lesions in patients with human immunodeficiency virus(HIV), however reported cases of immune-complex glomerulonephritis are scarce. Here we describe an HIV-positive patient with Henoch-Schönlein purpura nephritis(HSPN), which presented as nephrotic syndrome. In addition to therapy combined with glucocorticosteroid and inhibition of the renin-angiotesin system(RAS), plasmapheresis and antiretroviral therapy produced a favorable outcome. A 26-year-old HIV positive man was admitted for purpura on both lower limbs. Despite glucocorticosteroid treatment, purpura recurred and urinary protein increased to 5-10 g daily. HSPN was diagnosed based on the skin and renal biopsies. During 2 months of treatment with combined glucocorticosteroid and RAS inhibition, nephrotic syndrome persisted. He received double filtration plasmapheresis(DFPP). Soon after, urine protein decreased to 2-3 g daily and macrohematuria decreased. The second renal biopsy showed a decrease in IgA deposition and improvement of acute inflammatory changes. In addition, highly active antiretroviral therapy was started to reduce the high viral load. After 3 weeks, HIV-1-RNA rapidly decreased and urine protein decreased to 1 g daily. After a year, urinary protein was negative, but mild microhematuria persisted. We speculate that the refractory nephrotic syndrome in this patient might be associated with the abnormal immunological condition due to HIV infection.
AIDS-Associated Nephropathy↗
[A cold agglutinin disease, difficult to distinguish from paroxysmal cold hemoglobinuria].
A 58-year-old male started passing dark brown colored urine in January 2002. An annual medical examination in the same month revealed a mild anemia and an increased serum LDH level. Because of the instability of the data of his peripheral red cell count and hemoglobin concentration as measuring with a blood cell auto-analyzer, and also the hemolytic findings in a test tube at room temperature (25 degrees C), he was referred to our hospital. Laboratory data revealed Hb 11.2 g/dl, reticulocytes 73.1% (233,000/microliter), indirect-bilirubin 2.8 mg/dl, LDH 757 U/l, and hemosiderinuria, suggesting some intravascular hemolysis. The cold agglutinin titer was > 1,024, direct and indirect Coombs tests were both positive, and the Donath-Landsteiner antibody (D-L antibody) was initially assessed as false positive because of a high titer of cold agglutinin. He was finally diagnosed as having a cold agglutinin disease (CAD) with anti-I autoantibody. Serologic tests for syphilis and mycoplasma, and various virus tests were all negatives. After avoiding cold exposure, his symptoms, including hemoglobinuria, disappeared. However, during 9 months follow-up, he still showed a high titer of cold agglutinin. This case suggests that CAD should be considered when peripheral blood cell count data are unstable as assessed by a blood cell auto-analyzer.
Agglutinins↗
[Progress in the field of hematology in the last 100 years: Medical history of blood coagulation disorder].
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Blood Coagulation Disorders↗
Two double heterozygous mutations in the F7 gene show different manifestations.
We sequenced the factor VII gene (F7) in two unrelated Japanese patients with factor VII (FVII) deficiency. In the first (an asymptomatic 46-year-old man with FVII activity and antigen levels of 1.2% and 21% of normal respectively), novel E25K and H348Q mutations were identified in the doubly heterozygous state. In transiently transfected HEK293 cells, the level of FVII-E25K mutant activity in the culture media was significantly lower than that of FVII wild type, whereas the antigen levels of both proteins were similar. This suggests that the E25K mutation is associated with a dysfunctional FVII molecule. In the second patient (a 47-year-old woman with FVII activity and antigen levels of less than 1% and 6% respectively), an IVS4+1 mutation and a novel -96C to T transition were detected in the double heterozygous state. In electrophoretic mobility shift assays, the -96T mutation was shown to disrupt binding of Sp1.
Catalytic Domain↗
De novo appearance of t(7;13)(q10;q33) in the leukemic phase of myelodysplastic syndrome: a case report.
Clonal cytogenetic abnormalities are found in about 50% of all patients with myelodysplastic syndrome (MDS) and the clinical implication of these abnormalities is now well documented. However, the de novo appearance of balanced translocations in MDS patients during the progression of the disease is rarely reported and the significance of the balanced translocation remain to be elucidated. We report here the first case of refractory anemia with excess blasts in transformation (RAEBt), in which a new chromosomal translocation, t(7;13)(q10;q33) appeared de novo in the AML phase. It has been revealed that rearrangements and deletions of chromosome 7, i.e. der(1;7)(q10;p10), are very complex and that multiple regions may contribute to the disease phenotype and progression. Our case suggests that the chromosomal region at 7q10, rather than 1p10, might be one of the hot spots for myeloid proliferative disorders, including MDS.
Acute Disease↗
Physical condition and activity of daily living among HIV patients infected through blood products in Japan.
OBJECTIVE: To examine the present status and trends in physical condition and activity of daily living (ADL) among patients infected HIV by blood products in Japan. METHODS: Data from a survey of 605 HIV patients infected through blood products were available quarterly between April 1997 and March 2000. Physical condition (summary index of 13 symptoms) and ADL in the first quarter of 2000 were assessed by comparing proportions of patients in good physical condition and having good ADL according to the level of CD4 counts and the use of antiretroviral treatments. Trends in those proportions during the study period were investigated, and these trends were also assessed by the changes in CD4 counts and antiretroviral treatments. RESULTS AND CONCLUSIONS: The proportion of patients in good physical condition was 70.6% and having good ADL was 65.7% in the first quarter of 2000, which was associated with the CD4 counts and antiretroviral therapy. The proportion of patients in good physical condition decreased from 79.2% to 66.2%, and ADL also decreased from 72.1% to 61.3% during the study period. These declines were presumably associated with the changes in CD4 counts and antiretroviral treatments.
Activities of Daily Living↗
[Prothrombin time and its standardization: a potentiality to introduce INR method in criteria for disseminated intravascular coagulation].
Prothrombin time (PT) is widely utilized for evaluation of diseases with single or multiple coagulation factors disorders, such as severe liver dysfunction and disseminated intravascular coagulation (DIC). However, its standardization of reagent and method is not established yet for universal purpose except International Normalized Ratio (INR) for control of oral anticoagulant therapy (OAT). Neither Prothrombin time ratio adapted in Japanese criteria for DIC nor seconds method in criteria reported by the last SSC meeting is corrected between assays, therefore much dependence on these criteria causes risk of misdiagnosis. In order to resolve incoherence of method of PT, we performed this study for introducing INR method to diagnostic criteria for DIC. In our results, sensitivities of two reagents from human tissue factor (TF) to DIC model plasma with middle to low activities of multiple coagulation factors almost equal to plasma from patients with OAC, although other two reagents from rabbit TF show discrepancy of sensitivities between DIC and OAT plasma. These suggest a potentiality to introduce INR system to diagnosis of DIC when human TF is used as a PT reagent. Based on standardization of method, significance of PT in DIC criteria should be reevaluated in worldwide.
Disseminated Intravascular Coagulation↗
[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. PTs of individual 90 samples(group MC) absorbed with BaSO4 and/or bentnite and 60 samples(group W) from patients with OAT were measured with 20 normal plasmas with respective reagents. Sensitivities of four reagents to plasma of group W and MC were determined respectively against human recombinant thromboplastin(ISI = 1.03). Both of human thromboplastin showed that sensitivity to absorbed plasma was very close to OAT plasma, whereas reductions of sensitivity to 84% and 66% for absorbed plasma were revealed in both of rabbit thromboplastins. Correlations of INRs calculated by two different sensitivities, one is to absorbed plasma and another to OAT plasma, indicated that discrepancy of sensitivities was emphasized as large slopes(1.50 and 2.76) of regression lines and large intercepts in rabbit thromboplastins, although slopes closed to 1.0 with small intercepts in both of human thromboplastins. We concluded that use of human thromboplastin was the first priority to introduce INR system for evaluation of multiple coagulation factors depletions.
Adult↗
[Simultaneous development of factor V inhibitor and autoimmune thrombocytopenia in a patient with dermatomyositis].
It has been previously demonstrated that aging, a history of malignancy or surgery, and exposure to bovine thrombin may be related to the presence of factor V inhibitor. However, dermatomyositis (DM) and autoimmune thrombocytopenic purpura (ATP) have rarely been associated with factor V inhibitor. Here we report a patient with factor V inhibitor accompanied by DM and ATP. In January 2000, a 77-year-old woman with DM was hospitalized because of susceptibility to bleeding. At the onset of DM, she had suffered from gastric leiomyosarcoma, and had undergone gastrectomy and splenectomy without the use of bovine thrombin. Thereafter, she had been treated with prednisolone until October 1999. On admission, prolongation of both APTT and PT was seen. Her factor V activity had fallen to 6%, and factor V inhibitor was positive at 8.9 Bethesda units. Moreover her platelet count had dropped to 1.0 x 10(9)/l. A bone marrow aspirate showed a cellular marrow with megakaryocytic hyperplasia, and the patient's PA-IgG level was elevated at 389 ng/10(7) cells. These findings suggested that ATP was also present. Additionally, the patient showed a positive result for Coombs test and consumption of complement. After a further course of steroid therapy, the patient's condition was markedly improved. This is a very rare case that showed factor V inhibitor and ATP simultaneously. Furthermore, the patient's clinical course suggests the relationship between the presence of factor V inhibitor and the reactivation of her collagen disease activity.
Aged↗