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M Omine

Publications and source records attributed to M Omine.

At least 55 records · Page 3Linked to original sources
PubMed1996

[Hereditary hemolytic anemia due to abnormal enzymes of the glycolytic pathway].

Recent advances on the congenital hemolytic anemia due to enzymopathies related to the red cell glycolytic pathway were summarized based on the review articles and reports. A number of investigations has clarified detailed molecular and genetic aspects of the disease, thus facilitating our understanding on the mechanisms of variable clinical expression, as well as the known limitation to the red cell system in some enzymopathies. These findings are expected to be connected with development of the save and rational therapeutic approaches.

Aldose-Ketose Isomerases↗
PubMed1995

Leukemic transformation of polycythemia vera and essential thrombocythemia possibly associated with an alkylating agent.

BACKGROUND: Leukemic transformation of polycythemia vera (PV) and essential thrombocythemia (ET) is influenced by the therapeutic modalities used. A high incidence of leukemic transformation was found among patients with PV or ET treated with an alkylating agent, carboquone (CQ). The study was conducted to assess the causal relationship between CQ and leukemic transformation of PV and ET. METHOD: Twenty-seven patients with PV and 29 with ET diagnosed from January 1975 to August 1993 and whose clinical course could be followed comprised the members of this retrospective study. The patients were examined for the treatment administered, hematologic data, vascular complications, malignancies including leukemia, and eventual outcome. RESULTS: Eighteen patients with PV and 16 with ET were treated with CQ. The follow-up was 51-209 months for patients with PV and 28-176 months for those with ET. Three patients with PV (17% of those treated with CQ) and 5 with ET (31% of those treated with CQ) had subsequent transformation to acute leukemia. The median period until transformation of patients with PV was 94 months, whereas the median follow-up of patients without transformation was 146 months (P < 0.01). The median total days of CQ administration and the median total dose of CQ were 2022 days and 1226 mg, respectively, for the patients with transformation and 1051 days (P < 0.05) and 435 mg (P < 0.01), respectively, for those without transformation. Likewise, the median follow-ups for patients with ET with or without transformation were 130 and 90 months, respectively; the difference was insignificant. The median total days of CQ administration and the median total dose of CQ were 2075 days and 1019 mg, respectively, for patients with transformation and 571 days (P < 0.05) and 231 mg (P < 0.01), respectively, for those without transformation. These observations suggest that CQ may be involved in the leukemic transformation of PV and ET. The subtypes of leukemia transformed from PV corresponded to M2 in two patients and to M4 in one. All five patients with ET were found to have megakaryoblastic features at transformation, and three were diagnosed as having leukemic subtype M7. Chromosomal abnormalities were found in all five patients (two PV and three ET) examined after leukemic transformation, showing multiple and complex abnormalities in four. CONCLUSION: Showing that both the total days of CQ administration and the total dose of CQ were larger for patients with PV or ET whose disease subsequently transformed to leukemia, with this study, a possible causal role of CQ in leukemic transformation of PV and ET is suggested.

Adult↗
PubMed1995

[Chromosomes, morphologic subtypes and their prognostic evaluation in acute non-lymphocytic leukemia].

Cytogenetic and morphological analyses were performed on 55 adult patients (34 males, 21 females) with acute non-lymphocytic leukemia (ANLL) diagnosed between 1986 and 1992, and the results were studied with regard to therapeutic response and prognosis. Eleven patients had M1 (20%), 14 had M2 (25.5%), 14 had M3 (25.5%), 7 had M4 (12.7%), 3 had M5 (5.5%), 5 had M6 (9.1%) and one had M7 (1.8%). The overall incidence of chromosomal abnormalities were 65.5% including 10 cases (18.2%) with t (8;21), 12 (21.8%) with t (15;17), 5 (9.1%) with pseudodiploid, 3 (5.5%) with hyperdiploid, 2 (3.6%) with hypodiploid and 4 (7.3%) with abnormalities of 5 or 7 chromosomes. Outcomes were analyzed in 45 patients. 36 patients (80%) achieved complete remission (CR). All 12 patients with M2 entered CR, and they showed a significantly longer median survival than M1. The median survival of 10 patients with t (8;21) was significantly longer than that of patients with t (15;17). However, therapeutic response and prognosis did not correlate with either chromosomal status (NN, AN, or AA) or with age-groups (> or = 60, < 60). These results confirmed that morphological subtypes and certain types of chromosomal abnormality are important variables in determining the prognosis of adult patients with ANLL.

Adolescent↗
PubMed1994

Clonality in chronic myeloproliferative disorders defined by X-chromosome linked probes: demonstration of heterogeneity in lineage involvement.

The restriction fragment length polymorphisms (RFLP) of the X-chromosome phosphoglycerate kinase (PGK) and hypoxanthine phosphoribosyltransferase (HPRT) genes were used to study the clonal basis of the chronic myeloproliferative disorders (CMPD). Analyses were performed on granulocyte and T-lymphocyte fractions obtained from 24 females; 13 had essential thrombocythaemia (ET), eight polycythaemia vera (PV) and three myelofibrosis with myeloid metaplasia (MMM). All 24 of these patients had monoclonal patterns of X-inactivation in the granulocyte fraction. For the T-lymphocyte fraction, non-clonal patterns of X-inactivation were observed in 8/13 patients with ET, 7/8 with PV and 1/3 with MMM, while the remaining eight subjects were found to have monoclonal patterns of X-inactivation. Our findings suggest that the majority of the CMPD in these patients originated from a relatively committed progenitor cell without the capacity to differentiate into T cells, and convincingly demonstrated heterogeneity of lineage involvement.

Adult↗
PubMed1993

Clonality in myelodysplastic syndromes: demonstration of pluripotent stem cell origin using X-linked restriction fragment length polymorphisms.

Restriction fragment length polymorphisms (RFLP) of the X-chromosome genes phosphoglycerate kinase (PGK) and hypoxanthine phorphoribosyltransferase (HPRT) were used to determine the clonal nature of myelodysplastic syndromes (MDS) in 22 patients. These included eight with refractory anaemia (RA), four with RA with ring sideroblasts (RARS), six with RA with an excess of blasts (RAEB), three with RAEB in transformation (RAEB-T), and one with chronic myelomonocytic leukaemia (CMML). Monoclonal X-inactivation patterns were observed in 19/22 patients. The remaining three cases, one each with RA, RARS and RAEB, were of polyclonal composition. Separated T-lymphocyte and granulocyte fraction analyses in six patients of the former cases revealed that T-lymphocyte as well as granulocyte fractions showed a monoclonal pattern of X-inactivation. These results support the view that the majority of MDS arise from a pluripotent stem cell capable of myeloid and lymphoid differentiation.

Adult↗
PubMed1993

[A case of spontaneous biloma accompanied with incarcerated choledocholithiasis].

A 55-year-old man was admitted with abdominal pain and nausea. CT-scan and US showed no abnormal findings. On the 5th hospital day, a large mass was palpable on the upper abdomen, and CT-scan (7th hospital day) demonstrated a large, cystic mass below the left lobe. A thoracentesis under ultrasound guidance obtained bile-stained fluid. PTCD revealed choledocholithiasis and severe dilatation of the common bile duct and the left branch. After conservative treatment, cholecystectomy and choledocholithotomy were performed. Biloma occurred mainly traumatically or iatrogenically. This case had a spontaneous biloma, and only 11 cases have been previously reported as spontaneous biloma in Japan.

Bile↗
PubMed1992

Identical point mutations of the R-type pyruvate kinase (PK) cDNA found in unrelated PK variants associated with hereditary hemolytic anemia.

We cloned and sequenced the cDNAs for R-type pyruvate kinase (R-PK) from three homozygous PK patients. A point mutation (1151ACG to ATG) identified in the R-PK cDNA of PK Nagasaki was identical with that previously identified in an unrelated family, PK Tokyo. The mutation has also been identified in the PK L gene of a Lebanese family, PK Beirut, by Neubauer et al (Blood 77:1871, 1991). These results suggest either that the point mutation is very old or that the same mutation occurs sporadically in the same hot spot in unrelated families. A point mutation, 1261CAG to AAG, was detected in both PK Fukushima and PK Maebashi; this mutation causes a single amino acid substitution, from Gln421 to Lys, in R-PK. Consequently, the hydrophobicity properties near the mutated site are drastically changed. A silent mutation (1705AGG to CGG) was also identified in those variants. The screening of these three point mutations showed only the silent mutation in a normal individual as well as in individuals with PK variants. These results indicate that the multiplicity of the mutant PK allele is smaller than expected, and that the silent mutation is a polymorphic change commonly distributed in the Japanese population.

Anemia, Hemolytic, Congenital↗
PubMed1992

Ten-year survivors with multiple myeloma.

Of 130 Japanese patients with symptomatic multiple myeloma who were treated between 1970 and 1989, nine (6.9%) patients survived for more than 10 years. Younger age, low and intermediate tumour mass, chemotherapy with cyclophosphamide, the disappearance of myeloma protein, and a positive response to retreatment were correlated with long-term survival.

Aged↗
PubMed1992

Ki-1-positive large-cell anaplastic lymphoma with protean manifestations including central nervous system involvement.

A 26-year-old female with Ki-1-positive large-cell anaplastic lymphoma is reported. The neoplastic cells were phenotypically and genotypically of T cell origin. Initially, neoplastic cells invaded the skin and lymph nodes, and then invaded the sternal and vertebral bones, ribs and the iliopsoas muscle. Central nervous system (CNS) involvement with paraplegia, large tumor mass formation in her breast and pleural infiltration ensued in succession. This case illustrates the protean manifestations of Ki-1-positive large cell anaplastic lymphoma complicated with CNS involvement.

Adult↗
PubMed1992

Methylation status of c-myc oncogene in leukemic cells: hypomethylation in acute leukemia derived from myelodysplastic syndromes.

DNA methylation plays an important role in gene regulation. We have analyzed the methylation status of CCGG sites in and around the human proto-oncogene c-myc in blood cells from patients with acute and chronic leukemias and with myelodysplastic syndromes using restriction endonucleases. The 5' region of c-myc was unequivocally hypomethylated in all the 58 specimens studied, including 10 from normal bone marrow and 1 from human placenta. In contrast, the 3' region was hypermethylated in a great majority of cases. However, this region was hypomethylated in 1 of 12 patients with de novo acute myeloid leukemia, 1 of 6 patients with chronic myeloid leukemia, and 4 of 5 patients with acute myeloid leukemia preceded by a documented stage of myelodysplastic syndromes. One possible mechanism for the 3' region of c-myc to have remained hypomethylated may be a "delayed methylation" during transforming events toward a more aggressive stage of the disease, but the precise mechanism is unknown.

Acute Disease↗
PubMed1992

[Aplastic anemia].

Explore the source record for details and available documents.

Anemia, Aplastic↗
PubMed1992

[Atypical leukemia accompanied by vitamin B12 deficiency].

A 76 year old female with atypical leukemia complicated by vitamin B12 deficiency demonstrated marked fluctuation in blast percentage and hemopoiesis over 8 month period. She underwent surgical removal of pancreas head cancer 5.5 years ago. In January 1989 severe pancytopenia and mild increase of bone marrow blast were found. Blood transfusions and inadvertent administration of Vitamin B12 resulted in alleviation of pancytopenia and decrease in blast percentage. Several months later her bone marrow blast exceeded 30%, when serum B12 concentration was below 90 pg/ml. B12 injection and blood transfusion resulted in significant improvement in her hematological condition, but shortly thereafter she died of fulminant hepatitis. Her bone marrow cells showed a polyclonal constitution, as assessed by the RFLP-methylation technique using the PGK gene as a probe. The coexistence of leukemic- and normal clones under Vitamin B12 deficiency conditions and the differing behavior of such clones to B12 supplementation may explain the unusual clinical course observed in this patient.

Aged↗
PubMed1992

[Clinical and molecular biological study of Ph positive acute leukemia: comparison with blast crisis of chronic myelogenous leukemia and Ph negative acute lymphoblastic leukemia].

Eight cases of Philadelphia positive acute leukemia (Ph+AL) were compared with 13 cases of Ph+ chronic myelogenous leukemia in blast crisis (BC) and 10 cases of Ph negative acute lymphoblastic leukemia (Ph-ALL) based on the clinical and molecular biological findings. Distinguishing clinical features were a high leukocyte count (median; 147.9 x 10(3)/microliters) for Ph+AL, and a high incidence of tumor formation and basophilia for BC. A cytogenetic study demonstrated the disappearance or marked reduction of Ph+ metaphases in Ph+AL in remission, while Ph+ cells persisted in BC. The major bcr gene was not rearranged in 4 Ph+AL cases, whereas it was found rearranged in 4 other cases of Ph+ AL and 6 cases of BC. Reverse transcriptase polymerase chain reaction technique demonstrated the presence of minor bcr/abl mRNA in the former three cases, and major bcr/abl mRNA in the latter 4 cases. Remission rates were 63% for Ph+AL, 38% for BC, and 100% for Ph-ALL, and the 50% survival were 12, 5 and 29 months, respectively. It was concluded that Ph+AL can be differentiated from BC by a marked reduction of Ph+ cells at remission, and that the prognosis of Ph+AL is better than BC, but worse than Ph-ALL.

Adolescent↗
PubMed1991

Clinical effect of recombinant human granulocyte colony-stimulating factor (rhG-CSF) on various types of neutropenia including cyclic neutropenia.

Recombinant human granulocyte colony-stimulating factor (rhG-CSF) was investigated for its clinical efficacy in the treatment of various types of neutropenia (3 cases with idiopathic neutropenia of suspected drug induction, 5 cases with idiopathic neutropenia of other origin, and 2 cases with cyclic neutropenia). Treatment with glycosylated rhG-CSF produced in the Chinese Hamster Ovary cells at dose levels of 2-5 micrograms/kg/day caused rapid increases of neutrophil counts associated with an improvement of the infection. In cyclic neutropenia patients, marked reduction in the duration of the neutropenic period was observed with rhG-CSF administration started before the period. Intercurrent stomatitis, which occurred in 1 patient, was markedly milder as compared to a previous episode which occurred during an untreated neutropenic period. The treatment of rhG-CSF was well tolerated and no adverse events were observed, nor was there any detectable anti-rhG-CSF antibody in any patients studied; hence the clinical use of rhG-CSF is considered to be safe. These results suggest beneficial effects of rhG-CSF on the recovery of neutrophil counts in cyclic and other types of idiopathic neutropenias, as well as for the treatment of neutropenia-associated infection.

Adolescent↗
PubMed1991

A patient with primary plasma cell leukemia accompanied by an extensive polypoid infiltration of the gastrointestinal tract.

A 37-year-old male presented with primary plasma cell leukemia (PCL) with kappa-type Bence Jones proteinuria (BJP) and polyposis of the stomach and colon. His plasma cell leukemia was not preceded by a pre-existing multiple myeloma, and presented the complication of polyposis in both stomach and colon. Biopsy of mucosal lesions revealed marked accumulation of atypical plasma cells with positive cytoplasmic kappa-chain. No amyloidosis was present. His disease responded remarkably well to intermittent melphalan and prednisolone. This case represents an uncommon combination of primary plasma cell leukemia and polypoid gastrointestinal lesions with plasma cell infiltration.

Adult↗