Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019214 (hepatosplenomegaly)
 4,408 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Chronic neutrophilic leukemia is a rare, infrequently recognized, myeloproliferative disorder. It usually manifests as a leukemoid reaction, with mostly mature granulocytes in the peripheral blood, with rare to occasional immature forms, and sometimes with normoblasts. The clinical manifestations also include hepatosplenomegaly, elevated leukocytic alkaline phosphatase, elevated serum vitamin B12 and serum vitamin B12 binder ("R" fraction), and elevated serum uric acid. Distinction from a leukemegaly, the absence of sepsis, usually normal erythrocytic sedimentation, and the absence of fever. Leukemoid reactions may be associated with elevated serum vitamin B12 and uric acid, but the levels are usually lower than those found in chronic neutrophilic leukemia. Many patients have gouty symptoms, especially after treatment with Busulfan, and many have an unexplained hemorrhagic tendency, making major operations a risk. The authors add two cases to the 11 previously described.
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PMID:Chronic neutrophilic leukemia. Report of two cases and review of the literature. 28 88

A case of polycythemia vera with an inhibitor against factor XII was reported. A 60-year-old female was admitted to Hokkaido University School Hospital because of erythrocytosis and hepatosplenomegaly. The hemoglobin was 22.5 g/dl and white cell count was 9,500/microliters without immature cells. The platelet count was 484,000/microliters. Bone marrow specimens showed marked hypercellularity. Philadelphia chromosome was not found on chromosome analysis. She was diagnosed as polycythemia vera according to the criteria of polycythemia Vera Study Group. Activity of factor XII was found to be decreased on the initial examination, but she had no personal and familial history of bleeding. In order to clarify the cause of decreased activity of factor XII, her plasma was mixed with normal plasma, and then examined PTT using factor XII deficient plasma. Her plasma mixed with equivalent normal plasma did not show the correction of prolonged PTT. It was suggested that an inhibitor of her plasma was included in the IgG fraction using gel chromatography. The patient was treated with phlebotomy and administration of N4-palmitoyl (1- -D-arabinofurasyl) cytosine (derivative of cytosine arabinoside; PLAC) 200 mg/day and Busulfan (1 mg/day). Factor XII was not corrected by phlebotomy, but corrected gradually by administration of PLAC and Busulfan.
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PMID:[Polycythemia vera with an inhibitor against factor XII]. 260 Oct 45

A case study was made on 56 patients with chronic myeloid leukaemia in Singapore. The most common clinical presentations were abdominal discomfort with swelling and hepatosplenomegaly. The mean haemoglobin, white cell count, and platelet count at presentation were 9.23 g/dl, 217.9 X 10(9)/1 and 418 X 10(9)/1 respectively. Twenty-three of the 56 patients had gone into blast transformation at the time of analysis. The median duration of the chronic phase from the time of diagnosis to the time of blast transformation was 23 months. The median duration of survival after blast transformation was 3 months. The median duration of survival for all patients was 23 months. Busulphan remains the drug of choice for the chronic phase of chronic myeloid leukaemia.
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PMID:Chronic myeloid leukaemia in Singapore: a case study of 56 patients. 659 58

Severe Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI) is usually fatal by early adulthood. Bone marrow transplantation is the only form of definitive enzyme replacement therapy available. A 5-year-old boy with Maroteaux-Lamy syndrome has successful recovery of bone marrow and enzymatic functions after umbilical cord blood transplant from his unaffected HLA-identical brother. Busulphan (16 mg/kg) and cyclophosphamide (200 mg/kg) were used as preparative chemotherapy with short methotrexate and long cyclosporin as prophylaxis against graft-versus-host disease (GVHD). A total of 6.08 x 10(7)/kg nucleated cells and 2.92 x 10(5)/kg CD34+ cells were transplanted with neutrophil engraftment achieved on day 26. There was no evidence of acute and chronic GVHD. Fifteen months after transplant, a normal level of N-acetylgalactosamine-4-sulphatase activity was achieved despite mixed chimerism. There was clinical improvement of hepatosplenomegaly, facial and skin features, joint mobility and resolution of suppurative middle ear effusion. He returned to school and continued to perform well in academic studies. We report here the first successful umbilical cord blood transplant as treatment of Maroteaux-Lamy syndrome.
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PMID:Umbilical cord blood transplantation for Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI). 1098 95