Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0038002 (splenomegaly)
 9,873 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The most common haematological abnormalities in alcoholism are raised mean corpuscular volume of the erythrocytes and thrombocytopenia. The etiology is multifactorial including malnutrition with folate deficiency, a direct toxic influence of alcohol and sequestration in an enlarged spleen. Sideroblastic anaemia caused by interference of alcohol with the metabolism of pyridoxine is common and so is haemolytic anaemia caused by hypersplenism and megaloblastic anaemia. Leucopenia can be seen and is probably caused by a direct toxic effect of alcohol on the bone marrow. Other potentially toxic changes are impaired chemotaxis, motility and adherence of the granulocytes and impaired blast-transformation of the lymphocytes. In the bone marrow, vacuolized precursors of myelo- and erythropoiesis are seen. The bone marrow may be hypocellular. Other changes in the bone marrow are increased but ineffective erythropoiesis with defective iron metabolism, vacuolized pro-erythroblasts, multinucleated erythroblasts, megaloblasts and iron-containing plasma cells.
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PMID:[Hematological abnormalities in alcoholism]. 150 2

Seven cases of myelodysplastic syndrome with myelofibrosis, which is defined using the following criteria: (1) pancytopenia with less than 5% blasts in the peripheral blood; (2) minimal or no splenomegaly; (3) myelofibrosis with cellular marrow; (4) absence of diffuse proliferation of blasts in the bone marrow; and (5) presence of myelodysplastic features of bone marrow or peripheral blood cells, are presented. They were in the range of 52-82 years old and consisted of 3 males and 4 females. Six out of 7 cases developed into acute leukaemia after 5 to 8 months from the onset and died from between 2 weeks to 8 months from the evolution to leukaemia. The type of leukaemia was acute myeloblastic in 3 patients, and acute myelo-megakaryoblastic in 3 patients. Another patient died of severe hepatic injury after 5 months from the onset of the disease. These findings revealed that the complication of myelofibrosis in the patients with myelodysplastic syndrome was an indicative sign of rapid progression to overt leukaemia or otherwise poor prognosis for survival. In addition myelodysplastic syndrome is thought to be major primary disorder for acute myelofibrosis. Myelodysplastic syndrome with myelofibrosis is closely associated with the neoplastic proliferation of megakaryoblasts in a considerable number of patients.
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PMID:Myelodysplastic syndrome with myelofibrosis: myelodysplastic syndrome as a major primary disorder for acute myelofibrosis. 206 Feb 60

A 59-year-old female with splenomegaly was admitted in November, 1989. Her WBC was 7,900/microliters with 51% myeloblasts and 10% megakaryoblasts. Analysis of the surface markers showed that 56.5% were CD13 positive and 66.8% carried platelet GpIIb/IIIa. The Ph1 chromosome was 100% positive. VPM therapy was started but proved ineffective, as was subsequent MCNU therapy. The patient was given intramuscular human lymphoblastoid interferon-alpha (1.2 million IU daily) for more than 20 months. She had improved to the accelerated phase after INF-alpha therapy for 13 months. Thus there appears to be a relationship between INF-alpha and myelo-megakaryoblastic crisis.
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PMID:[Hematologic response to low dose natural interferon-alpha in a case of CML with myelo-megakaryoblastic crisis]. 849 24

Following myelo-ablative treatment and allogeneic bone marrow transplantation (BMT) in chronic myelogenous leukemia (CML) histopathological features assumed to exert a significant impact on engraftment have been rarely investigated systematically. This review is focused on immunohistochemical and morphometric techniques involving nucleated erythroid precursors, resident macrophages and their various subsets, megakaryocytes and finally argyrophilic (reticulin-collagen) fibers. Regarding standardized intervals of examination in the postgraft sequential trephine biopsies a pronounced reduction in cellularity was obvious and accompanied by a decrease in the quantity of erythro- and megakaryopoiesis. A significant correlation between the number of erythroid precursors and CD68+-macrophages could be determined in the areas of regenerating hematopoiesis. This finding is in keeping with the important functional role of the centrally localized mature macrophages during erythropoiesis. A relevant pretransplant reduction of the red cell lineage and an early to advanced reticulin fibrosis were correlated with a low hemoglobin level (anemia) and splenomegaly and furthermore associated with a significant delay to reach transfusion independence. This result was supported by corresponding findings in biopsy specimens performed shortly after day 30 following BMT (standard interval for assessment of engraftment). Samples revealed an enhancement of fiber density and a conspicuous decrease in the amount of erythropoiesis in the small fraction of patients who did not conform with the usually accepted criteria for successful hematopoietic reconstitution. Considering the compartment of histiocytic reticular cells the recurrence of Pseudo-Gaucher cells (PCGs) in the engrafted donor marrow was remarkable and most prominently expressed in the first two months following BMT. This feature was presumed to be functionally linked with a pronounced degradation of cell debris in the sequel of myelo-ablative therapy (scavenger macrophages). According to planimetric measurements in the postgraft bone marrow the atypical dwarf-like CD61+-megakaryocytes characteristic for CML disappeared. On the other hand, normalization of megakaryocyte size and nuclear lobulation were absent in sequential examination of the few patients developing a leukemic relapse. In a number of patients with manifest myelofibrosis at onset, an initial regression after BMT was followed by an insidiously occurring retrieval which was concentrated on the areas of reconstituting hematopoiesis. Similar to its relevant pretransplant association the postgraft reappearance of myelofibrosis was significantly correlated with the quantity of CD61+-megakaryocytes. Altogether a number of histological features in the pre-and postgraft bone marrow exhibited significant correlations with each other and thus indicated functional relationships. Moreover, quantity of erythropoiesis and amount of reticulin fibers (myelofibrosis) exerted a significant impact on engraftment status.
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PMID:Bone marrow engraftment: histopathology of hematopoietic reconstitution following allogeneic transplantation in CML patients. 1119 98

The myeloproliferative diseases (MPDs) or myelo-proliferative neoplasms (MPNs) are a group of diseases of the bone marrow in which excess cells are produced. Chronic idiopathic myelofibrosis (CIMF) is a stem cell defect characterized by splenomegaly with multiorgan extramedullary hematopoiesis, immature peripheral blood granulocytes and erythrocytes and progressive bone marrow fibrosis. The most common chromosomal abnormalities seen in CIMF patients include numerical changes of chromosomes 7, 8 and 9, and structural changes of 1q, 5q, 13q and 20q. At least 75.0% of patients with bone marrow abnormalities have one or more of these chromosomal anomalies. Detection of the Janus kinase 2 (JAK2) mutation may be a potential major breakthrough for understanding the pathobiology of MPNs, and is an essential part of the diagnostic algorithm. In this study, we describe a JAK2(V617F) mutation negative CIMF patient who has the chromosomal translocation t(3;12)(q26;q21) in her karyotype.
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PMID:Translocation t(3;12)(q26;q21) in JAK2(V617F) Point Mutation Negative Chronic Idiopathic Myelofibrosis: A Case Report. 2574 Dec 17