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)

DNA molecules that contain the human alpha- and beta s-globin genes inserted downstream of erythroid-specific, deoxyribonuclease I super-hypersensitive sites were coinjected into fertilized mouse eggs and a transgenic mouse line was established that synthesizes human sickle hemoglobin (Hb S). These animals were bred to beta-thalassemic mice to reduce endogenous mouse globin levels. When erythrocytes from these mice were deoxygenated, greater than 90 percent of the cells displayed the same characteristic sickled shapes as erythrocytes from humans with sickle cell disease. Compared to controls the mice have decreased hematocrits, elevated reticulocyte counts, lower hemoglobin concentrations, and splenomegaly, which are all indications of the anemia associated with human sickle cell disease.
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PMID:Human sickle hemoglobin in transgenic mice. 215 33

A 50-year-old male without relevant past history was admitted because of fever lasting for 23 days. Physical examination showed hepatomegaly and splenomegaly without other findings. Laboratory studies only revealed mildly abnormal hepatic enzymes. The remaining investigations (markers, serologies, antinuclear antibodies, blood and urine cultures) were negative. Chest and abdomen X-ray films were normal. In abdominal echogram a homogeneous liver without space occupying lesions was seen, and computed tomography disclosed enlarged liver, spleen and lymph nodes. Needle hepatic biopsy was reported as showing reactive hepatitis. Although clinically meningeal antibody seroconversions were not found, DNA chains of cytomegalovirus, Epstein-Barr virus, hepatitis B virus and herpes virus simplex were investigated with the in situ hybridisation technique. Its result was a strongly positive hybridisation for herpes virus and negative for the other investigated viruses.
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PMID:[Diagnosis of acute hepatitis caused by herpes simplex virus using in situ hybridization]. 215 6

A 60-year-old woman was admitted because of fatigue. Physical examination revealed prominent peripheral lymphadenopathy, marked tonsillar swelling and hepatosplenomegaly. The leukocyte count was 68,900/microliters with 75% lymphoid blasts and 5% basophils. The karyotype of the blood cells was 46, XX, Ph1/47, XX, Ph1, +Ph1. The diagnosis of CML in blast crisis was made. After chemotherapy using adriamycin, cyclophosphamide, vincristine, and prednisolone (CHOP), lymphadenopathy and splenomegaly reduced and lymphoid blasts disappeared from the blood and bone marrow. At that time only single Ph1 (46, XX, Ph1) clone was detected in her bone marrow. Four months later, hematological relapse accompanied by lymphadenopathy occurred and DNA analysis of the blasts showed the rearrangement of bcr gene. The simultaneous chromosomal analyses of the blood, bone marrow and lymph node revealed that almost all cells examined had the karyotype "47, XX, Ph1, + Ph1". In spite of repeated chemotherapy the patient did not improve and died. This case suggests a relationship between lymphadenopathy and double Ph1 chromosomes in CML.
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PMID:[Prominent lymphadenopathy and double Ph1 chromosomes as initial and recurrent manifestations of chronic myelogenous leukemia in blast crisis: report of a case and review of the literature]. 224 24

A case of chronic myelogenous leukemia (CML) with marked thrombocytosis and its megakaryokinetics were reported. Patient was 57-year old woman who had a marked thrombocytosis (1,413 x 10(3)/microliters) and a bone marrow megakaryocytosis. Bone marrow karyotype demonstrated Ph1 chromosome in all cells examined. However, on physical examination, there was no splenomegaly. CBC showed no immature myeloid cells, and neutrophil alkaline phosphatase was elevated. These manifestations were consistent with so called essential thrombocythemia (ET) with Ph1 chromosome reported by Nissenblatt. To know the megakaryokinetics of this case, we examined the number of colony forming unit-megakaryocyte (CFU-M), platelet glycoprotein (PGP) IIb/IIIa positive cells, cytoplasmic area, and DNA content, comparing with those of normal subjects, CML, and ET. We found a marked increase of CFU-M and PGP IIb/IIIa positive cells, but in contrast, decreased DNA content and cytoplasmic area. This pattern of megakaryokinetics was consistent with that of CML. We conclude that ET with Ph1 chromosome may be a variant of CML rather than ET itself.
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PMID:[Chronic myelogenous leukemia with marked thrombocytosis--comparison with essential thrombocythemia with Ph1 in its megakaryokinetics]. 231 4

A patient who developed mutilans-type arthropathy, splenomegaly, leukopenia, leg ulcer and massive hydroxyapatite accumulation during the course of progressive systemic sclerosis (PSS) was reported. A 56-years-old female had suffered Raynaud's phenomenon since the beginning of her third decade. She developed multiple symmetrical arthritis and morning stiffness at the age of 29, and was treated with NSAIDs and low dose corticosteroids under the diagnosis of rheumatoid arthritis (RA) Because of dysphagia and diarrhea, she was admitted in Niigata-Kenritsu Senami Hospital in September, 1987. Physical and roentgenographic examinations revealed diffuse scleroderma, mutilans-type arthropathy, lung fibrosis, splenomegaly and right leg ulcer. Laboratory examinations showed leukopenia, high titer of anti-DNA antibody, positive anti-Scl-70 antibody and mild hypocomplementemia. These findings suggested that she had PSS and Felty's syndrome. Furthermore, massive subcutaneous and intraarticular hydroxyapatite accumulation were noticed. The leg ulcer and laboratory data gradually improved with the combination therapy of corticosteroids, D-penicillamine and plasmapheresis. Although it has been well recognized that PSS patients reveal frequently the articular lesions similar to these of RA, severe mutilans-type arthropathy seen in this case is extremely rare. The joint contracture might be induced by hydroxyapatite accumulation, of which the early diagnosis seems to be very important in long-standing PSS patients.
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PMID:[A case of progressive systemic sclerosis associated with mutilans-type arthropathy and suspected Felty's syndrome]. 237 41

In a retrospective study, 10 patients with smouldering leukaemia (SML) were examined between 1982 and 1987. These patients typically showed the morphological criteria of acute myelogenous leukaemia (greater than 30% blasts in the bone marrow) in most cases together with a long survival time (median 16 months; 5 patients more than 22 months; 5 patients between 2.3 and 6.3 months) without the use of aggressive chemotherapy. At initial diagnosis the blast cell populations of patients with SML were characterized by significantly reduced cytosolic thymidine kinase activity (TK), thymidine-incorporation (dTR) and deoxyuridine incorporation (dUR) into DNA as well as reduced amounts of DNA-synthesizing S-phase-cells (%S) in the bone marrow (BM), compared to those patients with a rapidly proliferating acute myelogenous leukaemia (AML) and to healthy individuals. None of the SML-patients showed clinical symptoms such as night-sweat, weight-loss, hepato- and splenomegaly or lymphadenopathy at initial diagnosis. For characterization of SML vs AML we recommend the use of the biochemical parameter TK activity and the observed absence of the above-mentioned clinical symptoms. The transition to the rapidly proliferating type of AML can be recognized by an increase in the values of the biochemical and cytokinetic parameters. The blast count in the bone marrow is not suitable as a diagnostic criterion for the definition of SML vs AML or its transition to the rapidly proliferating type of AML.
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PMID:Clinical, biochemical and cytokinetic parameters for distinguishing smouldering and rapidly proliferating variants of acute leukaemia. 237 61

The hallmarks of chronic myelogenous leukemia (CML) include the Philadelphia chromosome (Ph) translocation [t (9;22)(q34;q11)] and consistent molecular genetic aberrations: a break within a restricted 5.8 kb DNA segment, bcr, on chromosome 22q11; transposition of the c-abl protooncogene from chromosome 9q34 to 22q11; and formation of a hybrid bar-abl gene encoding an abnormal 210 Kd bcr-abl protein with augmented tyrosine kinase enzymatic activity. These molecular phenomena may occur even in the absence of cytogenetic evidence of the Ph translocation. They are highly specific and sensitive markers for CML, and are presumed to play a significant role in the pathogenesis of this malignancy. Surprisingly, we have encountered 11 patients who lacked the Ph translocation, bcr rearrangement, and (in the four patients with available mRNA) a bcr-abl message, and yet had a disease phenotype at diagnosis that was a morphologic facsimile of classic chronic phase CML. These patients presented with high white blood cell counts, neutrophilia, occasional basophilia, splenomegaly, and a hypercellular bone marrow with granulocytic hyperplasia and a left shift in myeloid maturation. Despite the striking resemblance between the early stages of bcr-negative and bcr-positive CML, disease progression manifests distinctly in these two disorders. In contrast to the blastic transformation that inevitably complicates bcr-positive CML, the natural history of our 11 Ph-negative, bcr-negative CML patients was characterized by increasing leukemia burden with leukocytosis, pronounced organomegaly, extramedullary infiltrates, and eventual bone marrow failure (anemia and thrombocytopenia) without marked increases in blast cells. Our current observations suggest that a chronic myeloid leukemia process can develop without associated changes in the bcr or c-abl genes. Although the initial phase of this disease is indistinguishable from CML, the presence or absence of molecular markers may aid in the prediction of the clinical course of Ph-negative CML.
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PMID:Philadelphia chromosome-negative chronic myelogenous leukemia without breakpoint cluster region rearrangement: a chronic myeloid leukemia with a distinct clinical course. 240 27

The N-ras gene is the only member of the ras family which has never been naturally transduced into a retrovirus. In order to study the in vitro and in vivo oncogenicity of N-ras and to compare its pathogenicity to that of H-ras, we have inserted an activated or a normal form of human N-ras cDNA into a slightly modified Harvey murine sarcoma virus-derived vector in which the H-ras p21 coding region had been deleted. The resulting constructions were transfected into NIH 3T3 cells. The activated N-ras-containing construct (HSN) induced 10(4) foci per microgram of DNA and was found to be as transforming as H-ras was. After infection of the transfected cells by either the ecotropic Moloney murine leukemia virus or the amphotropic 4070A helper viruses, rescued transforming viruses were injected into newborn mice. Both pseudotypes of HSN virus containing activated N-ras induced the typical Harvey disease with similar latency. However, we found that the virus which contained normal N-ras p21 (HSn) was also pathogenic and induced splenomegaly, lymphadenopathies, and sarcoma in mice after a latency of 3 to 7 weeks. In addition, Moloney murine leukemia virus pseudotypes of N-ras caused neurological disorders in 30% of the infected animals. These results differed markedly from those of previous experiments in which we had inserted the activated form of N-ras in the pSV(X) vector: the resulting SVN-ras virus was transforming on NIH 3T3 cells but was poorly oncogenic in vivo (M. Souyri, C. F. Koehne, P. V. O'Donnel, T. H. Aldrich, M. E. Furth, and E. Fleissner, Virology 158:69-78). However, similarly poor oncogenicity was also observed when the v-H-ras coding sequence was inserted in pSV(X) vector, which indicated that the vector sequences play a crucial role in the pathogenicity of a given oncogene. Altogether, these data demonstrated unequivocally that N-ras is potentially as oncogenic as H-ras and that such oncogenic effect could depend on the vector environment.
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PMID:Oncogenicity of human N-ras oncogene and proto-oncogene introduced into retroviral vectors. 254 8

In order to obtain evidence for the essential role of the single base insertion occurring at the 3' end of the env-related gene of Friend spleen focus-forming virus (SFFV) encoding the leukemogenic glycoprotein (gp55) a mutant SFFV genome was constructed in which the segment of the gp55 gene of the polycythemia-inducing strain of SFFV containing the single base insertion and the 6-base-pair duplication was replaced by the corresponding sequence of the Friend murine leukemia virus env gene. The mutant SFFV-Friend murine leukemia virus complex did not induce symptoms of the erythroproliferative disease in adult DBA/2 mice. During passage through newborn DBA/2 mice, the mutant virus complex invariably gave rise to weakly pathogenic variant SFFVs. All of the variant SFFVs induced in adult DBA/2 mice a transient mild splenomegaly associated with normal or slightly low hematocrit value, and they produced gp55 with a molecular weight similar to that of gp55 of the wild-type SFFV. For the two isolates of variant SFFV, the 3' portion of the viral DNA intermediate containing the 3' portion of the gp55 gene was molecularly cloned. Nucleotide sequences of these biologically active cloned DNAs were determined and showed that the variant SFFV genomes arose from the mutant SFFV genome by regaining the single base insertion, indicating that the single base insertion is essential for the biological activity of gp55. Evidence is presented indicating that the single base insertion which causes a loss of the cytoplasmic domain of the env-related protein is not related to the localization of the further-glycosylated form of gp55 in the plasma membrane but is involved with the release of gp55 from cells.
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PMID:Requirement of the single base insertion at the 3' end of the env-related gene of Friend spleen focus-forming virus for pathogenic activity and its effect on localization of the glycoprotein product (gp55). 255 55

Three serologically indistinguishable viruses from the avian adenovirus type-II splenomegaly virus of chickens, marble spleen disease virus of pheasants, and hemorrhagic enteritis virus of turkeys, were analyzed by restriction endonuclease fingerprinting. The DNA from these viruses were examined with 6 restriction endonucleases (Bgl II, EcoRI, HindIII, Hha I, Xho I, and BamHI). Markedly different DNA cleavage patterns were found in these virus isolates with all the 5 enzymes, except with BamHI, suggesting genetic differences between isolates of adenovirus type II. Restriction endonuclease analyses were found to provide a method for distinguishing genetically different, and yet serologically similar, strains of avian adenovirus type II.
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PMID:Differentiation of avian adenovirus type-II strains by restriction endonuclease fingerprinting. 255 77


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