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)

A newborn infant presented with hepatosplenomegaly, rash, anemia, and leukocytosis at one day of age and manifested characteristic myeloid metaplasia by one mouth of life. Vitamin B12 and leukocyte alkaline phosphatase were elevated and platelet aggregation was impaired. Myelofibrosis was not present and neutrophil function was preserved. An unidentified high isoelectric point hemoglobin with unusual chromatographic and electrophoretic behaviors was found to comprise 12% of the total hemoglobin. The myeloid metaplasia and mutant hemoglobin disappeared over the subsequent months without biochemical or clinical residual. The available evidence was consistent with the mutant hemoglobin representing either a gamma chain or clonal embryonic chain variant. The inability to clarify prognostic factors in these unusual myeloproliferative syndromes suggests caution in the initiation of cytotoxic therapy.
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PMID:Transient myeloid metaplasia associated with an unusual hemoglobin in a newborn infant. 9 73

Myelofibrosis is observed in 1/5 of the cases of C.M.L. It consists of reticulin fibers with few collagen and no osteosclerosis. It involves signs which usually indicate the extension of the myelosis to other organs and other types of cells: hepatosplenomegaly, erythroblastosis, thrombocytemia. Its prognosis is always bad. In one third of the cases, myelofibrosis develops early, and in two third it is late. Chimiotherapy is not responsible for it. These forms of C.M.L. with myelofibrosis appear as a special type of myeloproliferative disorder apart from the true C.M.L. and the true osteomyelofibrosis.
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PMID:[Myeloid leukemia with myelofibrosis (author's transl)]. 12 27

Acute myelofibrosis is a rare but distinct accelerated variant of agnogenic myeloid metaplasia that is characterized by marked anemia, peripheral blood myeloblastosis and normoblastosis, a lack of teardrop poikilocytosis, and prominent myelofibrosis. There is usually no palpable hepatosplenomegaly or lymph node enlargement. The clinical course is remarkable short. We describe a 63-year-old man who presented with idiopathic acquired sideroblastic anemia and subsequently developed acute myelofibrosis. Intensive polychemotherapy with vincristine, cytosine arabinoside, and prednisone and a later trial of oxymetholone therapy were ineffective. He died 134 days after the diagnosis of acute myelofibrosis was established. The 11 previously reported cases of acute myelofibrosis are reviewed, and the relationships of acute myelofibrosis to other myeloproliferative disorders and to idiopathic acquired sideroblastic anemia are discussed.
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PMID:Idiopathic acquired sideroblastic anemia terminating in acute myelofibrosis: case report and review of leterature. 31 17

A patient with an unusual myeloproliferative disorder, characterized by hepatosplenomegaly, myelofibrosis, ringed sideroblasts, and conversion to acute myeloblastic leukemia developed cardiac tamponade secondary to pericardia extramedullary hematopoiesis. Diagnostic criteria are discussed. Irradiation and systemic chemotherapy were successful in controlling the effusion.
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PMID:Cardiac tamponade resulting from pericardial extramedullary hematopoiesis: a case report and review of the literature. 38 7

Three patients with megakaryoblastic leukaemia are described. All three presented with pancytopenia, a few blast cells in the peripheral blood and absence of overt hepatosplenomegaly. In two of them bone marrow aspiration yielded a dry tap. Histological investigation of the bone marrow indicated that the megakaryocytic cell line was the dominant proliferating lineage. Cytochemical and EM investigation supported these findings. The isomorphic isoenzyme pattern of the elevated serum lactic dehydrogenase might be of diagnostic importance. Despite chemotherapy, there was a rapidly fatal terminal leukaemic phase with high blast cell counts. The differentiation from other haematological malignancies, especially acute (aleukaemic) leukaemias and the accelerated phase of primary (chronic) myelofibrosis, is discussed. The picture appears to be identical with acute (malignant) myelofibrosis.
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PMID:Megakaryoblastic leukaemia (acute myelofibrosis): a report of three cases. 57 95

We have identified partial trisomy 1q in 2 patients with different hematologic disorders. The first patient was a 55-year-old female with myelosclerosis and myeloid metaplasia diagnosed at age 38 years presenting with anemia, fatigue, bruising, fever, and splenomegaly. At age 56, she had 50--95% myeloblast cells and 95--100 nucleated RBC precursors per 100 WBC. Chromosome analysis of unstimulated leukocytes with Q, G, and C banding showed 46,XX,-6,+t(1;6) (q25;p22) in all metaphase cells. In vitro incorporation of Fe55 was demonstrated 90% of metaphases by autoradiography. The second patient, a 49-year-old male, was diagnosed as having polycythemia vera at age 30 during a regular checkup. He since developed hepatosplenomegaly. Chromosome analysis from a direct bone marrow preparation at age 44 and 45 showed grossly normal karyotypes. At age 49, his marrow by Q and G banding showed almost 100% of cells with 46,XY,-13,+t(1;13) (q12;p12). Eleven cases of trisomy of 1q have been reported in various hematologic disorders. It is apparent that partial trisomy 1q represents another nonrandom chromosomal abnormality, in addition to the most common nonrandom chromosomal aberrations, such as the Philadelphia chromosome, trisomy 8, trisomy 9, and monosomy 7 in hematologic disorders.
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PMID:Partial trisomy of the long arm of chromosome 1 in myelofibrosis and polycythemia vera. 60 27

Although anemia has not been widely appreciated as a complication of primary hyperparathyroidism, 5.1% of the individuals with this disorder seen at the Massachusetts General Hospital since 1962 had a normochromic, normocytic anemia that could not be related to blood loss,a deficiency state, or uremia. The anemic group had more advanced bone disease and higher levels of serum calcium, alkaline phosphatase, and parathyroid hormone than the nonanemic group. Results of bone marrow biopsies performed in five patients showed variable degrees of myelofibrosis. However, none of the patients had hepatosplenomegaly, a myelophthisic peripheral blood smear, leukopenia, or thrombocytopenia. Removal of the abnormal parathyroid glands led to improvement or correction of the anemia.
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PMID:Anemia in primary hyperparathyroidism. 85 57

Two distinct and characteristic cases of osteopetrosis are presented. The first concerns a fourth month old baby with the malignant form of the disease, initiated since the newborn period. He was admitted because of abnormal ocular movements and probably deafness. At the physical examination he showed bilateral optic atrophy, abnormal ocular movements, hepatosplenomegaly and petechia. The diagnosis was confirmed by clinical means and radiological studies of virtually all of his skeleton. Several fractures were found. Laboratory tests showed marked anemia, trombocytopenia "tear cells", evidence of medullary erythropoiesis and myelofibrosis. An increased alkaline phosphatase was detected in serum and in granulocytes. The second case corresponds to a 26 year-old female with the benign form of the disease. She had multiple pathological fractures specially of her lower limbs, that produced severe impotence in her gait. In this case, the diagnosis is suspected on clinical basis and confirmed with the characteristic radiological findings. Some of the more distinct features of the disease are discussed, specially those concerning the genetic mode of inheritance and consanguinity, the etiopathogenic, pathophysiology, clinical, laboratory, prognosis and treatment, with particular reference to the radiological and hematologic problems related with this metabolic disorder.
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PMID:[Osteopetrosis (report of 2 cases)]. 91 41

Hypocalcemia is seen in patients with leukemia and is usually due to renal impairment or to low serum albumin concentrations. Four patients are reported who had hypocalcemia but without these usual explanations. One patient had chronic lymphatic leukemia and overwhelming infections which led to death. The other three patients had chronic myelogenous leukemia in an accelerated phase of the disease characterized by increasing blast cells in circulation, massive hepatosplenomegaly, and myelofibrosis. The cause of the hypocclcemia is unknown.
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PMID:Hypocalcemia in leukemia. 105 54

A 38-year-old woman presented with ear pain and vertigo. No hepatosplenomegaly or lymphadenopathy were found, but her platelet counts markedly rose to 414 x 10(4)/microliters with an increase of megakaryocytes in the bone marrow (859/microliters). Cytogenetic assay revealed positive Ph1 chromosome and rearrangement of the break point cluster region (bcr). Although platelet counts remained under 100 x 10(4)/microliters after the administration of carboquone, a high fever and pancytopenia appeared 31 months later. Bone marrow biopsy showed marked myelofibrosis which was improved by low dose etoposide. This case was thought to be Ph1 positive ET, but it was more compatible with CML megakaryocytic predominance type according to the newly proposed "Hannover criteria for myeloproliferative disorders" and cytogenetic assay.
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PMID:[Successful low-dose etoposide therapy for a case of myelofibrosis with chronic myelogenous leukemia megakaryocytic predominance type]. 160 13


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