Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0002874 (aplastic anemia)
 5,905 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Clonality analysis, by means of polymorphisms of X-linked genes and their methylation patterns, was performed in 41 female patients with various types of refractory anemia. Bone marrow cells, peripheral blood cells, and granulocytic and lymphocytic fractions were analysed by Southern blotting with PGK, HPRT, and M27 beta probes. Clonal hematopoiesis was evidenced in 8 of 19 patients with aplastic anemia, 4 of 6 patients with RA or RARS, 3 of 7 patients with PNH, and 5 of 9 patients whose hematological characteristics did not meet the criteria of either of these entities. For aplastic anemia, clonal hematopoiesis was demonstrated in higher frequency in the patients who had longer history after diagnosis. In refractory anemia, as a whole, no clear correlation was observed between existence of clonal hematopoiesis and morphological characteristics of hematological cells.
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PMID:[Clonality in refractory anemia]. 809 42

We attempted to identify the cytogenetic significance in predicting the prognosis of patients with myelodysplastic syndrome (MDS). From the results, we established scoring system (Bournemouth scoring+cytogenetic scoring: 3 for > or = 3 chromosomal abnormalities; 1 for -7/7q-, +8, 2 abnormalities); patients with score of > or = 5 had significant worse prognosis than that with score 0-2. Moreover, RARS with complex abnormalities consists of specific subtype showing a high leukemic rate with a high mortality rate. MDS with hypocellular marrow showed prognosis similar to those with typical MDS, while those with minimal dysplasia had prognosis similar to those with aplastic anemia. Patients with MDS were categorized into 3 subtypes, i.e., early disease-evolution, late disease-evolution, and no disease-evolution group. About 50% of patients with complex abnormalities showed early disease-evolution, while the remaining died before disease-evolution. In patients showing late disease-evolution, no cytogenetic factor are informative to predict the timing of disease-evolution, except percentage of marrow blasts at the diagnosis.
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PMID:[Clinical implications of chromosome analysis in myelodysplastic syndrome]. 847 77

Pancytopenia is a frequent manifestation of myelodysplastic syndromes (MDS). In the presence of an empty bone marrow, clinical distinction from aplastic anemia may be difficult. The hypoplastic marrow morphology seen in some cases of MDS raises questions about etiologic and pathophysiologic relationships between aplastic anemia and MDS. The goal of our study was to compare the degree of the hematopoietic failure in these diseases at the level of the most immature progenitor and stem cells that can be measured in vitro. In a systemic, prospective fashion, we have studied bone marrow (n = 45) and peripheral blood (n = 33) of patients with MDS for the number of long-term culture initiating cells (LTC-IC) in comparison to 17 normal controls and patients with new, untreated aplastic anemia (46 marrow; 62 blood samples). Due to the low numbers of cells available for the analysis, formal limiting dilution analysis could not be performed, instead secondary colony-forming cells (CFC) after 5 weeks of LTBMC were measured. As the number of these cells is proportional to the input number of LTC-IC, the number of secondary CFC per 10(6) mononuclear cells (MNC) initiating the LTBMC can be used as a measure of the content of immature stem cells in bone marrow and peripheral blood. The MDS group consisted of 34 RA, three RARS, eight RAEB and two RAEB-T patients with mean absolute neutrophil values of 1992, 1413, 1441, and 380 per mm3, respectively. The diagnosis was established based on bone marrow morphology and results of cytogenetic studies. In comparison to controls (147 +/- 38/10(6) MNC), significantly decreased numbers of bone marrow secondary CFC were found in MDS: in patients with RA and RARS, 21 +/- 7 secondary CFC per 10(6) bone marrow MNC (P < 0.001); patients with RAEB and RAEB-T: 39 +/- 12 CFC per 10(6) marrow MNC (P < 0.001). In all groups tested, the decrease in peripheral blood secondary CFC numbers was consistently less pronounced. In MDS patients with hypocellular bone marrow, secondary CFC were lower but not significantly different in comparison to MDS with hypercellular marrow (18 +/- 6 vs 35 +/- 11; NS; hypoplastic bone marrow also was not associated with significantly lower neutrophil counts). However, in 24% of patients with MDS, bone marrow secondary CFC were within the normal range, while in the aplastic anemia group only one of the patients showed secondary CFC number within normal range. Bone marrow and blood secondary CFC numbers in hypoplastic RA were significantly higher than those in severe aplastic anemia 919 +/- 5 in bone marrow, P < 0.01; 7 +/- 2 in blood, P < 0.05). This trend was even more pronounced in hypoplastic RA with chromosomal abnormalities. However, no significant differences were found between the secondary CFC numbers in hypoplastic RA and moderate aplastic anemia. We concluded that, although the deficiency in the stem cell compartment is less severe in MDS than in aplastic anemia, depletion of early hematopoietic cells is an essential part of the pathophysiology in both diseases.
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PMID:Measurement of secondary colony formation after 5 weeks in long-term cultures in patients with myelodysplastic syndrome. 969 72

We scored absolute numbers of circulating CD34+ cells by a highly sensitive triple-color flow cytometric analysis using CD45 monoclonal antibody, CD34 monoclonal antibody and propidium iodide. Forty-one patients with MDS (RA: 27, RARS: 1, RAEB: 6, RAEB-t: 3,CMML: 4), 12 patients with aplastic anemia (AA) and 36 age-adjusted normal subjects were studied. RA had significantly decreased numbers of cells expressing CD34 (0.21 +/- 0.29 x 10(6)/l) compared with normal subjects (0.81 +/- 0.36 x 10(6)/l)(P < 0.001). This low number of CD34+ cells in RA resembles the case of AA (0.39 +/- 0.73 x 10(6)/l). In light-scatter analysis, the CD34+ cells of RA patients were distributed mainly in low forward scatter (FSC) (lymphocyte region). In contrast, the CD34+ cell counts were extremely high in patients with RAEB (46.54 +/- 71.37 x 10(6)/l) and RAEB-t (57.00 +/- 52.36 x 10(6)/l) (P < 0.001) and the CD34+ cells were observed in high FSC (blast region).CMML patients showed moderately increased numbers of CD34+ cells (3.69 +/- 4.64 x 10(6)/l). Thus, there was a distinct difference in cell size and number of circulating CD34+ cells between RA and RAEB/RAEB-t. In univariate and multivariate analysis, a high CD34+ cell count (> or = 1.0 x 10(6)/l) was a poor prognostic factor. This method allows one to distinguish RA from other MDS subtypes more reliably than by morphology alone and provides early signs of progression to acute leukemia.
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PMID:Absolute number of circulating CD34+ cells is abnormally low in refractory anemias and extremely high in RAEB and RAEB-t; novel pathologic features of myelodysplastic syndromes identified by highly sensitive flow cytometry. 1065 53