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 30-year-old female developed symptoms consistent with Heerfordt's syndrome (complete type) and was effectively treated with steroid. However, she developed hepatosplenomegaly, bloody pleural effusion, and ascites one year after discontinuation of steroid therapy. The symptoms were considered to be due to sarcoidosis since serum ACE level, and ACE level and OKT4/8 ratio in pleural and peritoneal effusions were significantly elevated, and readministration of steroid normalized these changes. Bloody pleural and peritoneal effusions are very rare complications of sarcoidosis.
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PMID:[A case of sarcoidosis presenting with Heerfordt's syndrome, associated with hepatosplenomegaly, pleural effusion, and ascites]. 140 89

Ten leukemia cases with mixed phenotype were investigated in terms of clinical characteristics and cellular origin. Three patients were infants and six patients were older children. Six of them had a high leukocyte count and a mediastinal mass was found in three cases. All but one showed hepatosplenomegaly and/or lymphoadenopathy. In spite of intensive chemotherapy, most of them responded poorly. Cytochemical analysis of their leukemic cells revealed a low percentage of positivity for myeloperoxidase reactivity (less than 25%) in two cases and electron microscopic platelet peroxidase reactivity was found in one of three analyzed cases. Phenotypically, these cells all expressed CD7, and other T-lineage-associated, B-lineage-associated, and/or myeloid-associated antigens were also detected to some extent. In addition, three cases expressed CD41 and one case expressed CD56. The T-cell receptor (TCR) genes and immunoglobulin gene were in the germline configuration in seven cases. In three rearranged cases, two showed only the TCR-delta gene rearrangement, and one had both TCR-gamma and delta gene rearrangements. Cell culture studies with 12-0-tetradecanoyl-phorbol-13-acetate (TPA) revealed differentiation to the T-lineage in two cases and to a myeloid lineage in one case. Megakaryocytic differentiation was detected in two cases in culture without TPA. These results suggest that the cells from these cases arose from stem cells capable of both lymphoid and nonlymphoid differentiation. Although the cells were heterogeneous with regard to their potency of differentiation, they have similar clinical characteristics. Because of poor prognosis, it is important to identify this type of leukemia, and allogenic or autologous bone marrow transplantation should be considered.
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PMID:Clinical significance of CD7-positive stem cell leukemia. A distinct subtype of mixed lineage leukemia. 171 22

We have characterized CD4-CD8- double-negative (DN) alpha beta TCR+ T cells from a patient with immunodeficiency, lymphocytosis, lymphadenopathy, and hepatosplenomegaly. The majority of peripheral blood lymphocytes were DN alpha beta TCR+ T cells as evaluated by FACS and biochemical analysis. The DN T cells showed the following phenotype: alpha beta TCR+, gamma delta TCR-, CD2+, CD3+, CD4-, CD5+, CD7-, CD8-, CD16-, CD25-, CD26-, CD28+, CD45RO-, CD45RA+, CD57+, and HLA-DR+. Both southern blot analysis of TCR genes and FACS analysis applying a panel of V beta and V alpha monoclonal antibodies (MoAbs) indicated a polyclonal T-cell expansion. Thymic biopsy showed normal histology, whereas lymph node biopsy samples showed altered histological and immunohistological patterns with markedly expanded paracortical areas containing the DN T cells of the same phenotype as found in peripheral blood T cells. In functional studies, the DN T cells showed a profoundly reduced proliferative response upon stimulation with mitogens as well as MoAbs against the TCR/CD3 complex, CD2, and CD28, respectively. Addition of exogenous interleukin-2 (IL-2) only minimally augmented the proliferative response. In contrast, the addition of a combination of Ca2+ ionophore and phorbol 12-myristate 13-acetate (PMA) restored the proliferative response of the DN T cells to almost normal levels. This observation strongly suggests that the protein kinase C activity of the DN T cells was intact, but that the normal mechanism for transmembrane signal transduction was impaired in these unusual DN T cells.
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PMID:Phenotypical and functional characterization of double-negative (CD4-CD8-) alpha beta T-cell receptor positive cells from an immunodeficient patient. 183 26

Twenty-one patients are described with a proliferation of morphologically mature T lymphocytes. The clinical course was chronic in most, and splenic enlargement the main clinical finding; skin involvement and lymphadenopathy were rare. The mean lymphocyte count at presentation was 8 X 10(9)/1 (range 0.75-24 X 10(9)/1). Nineteen of these patients showed some form of cytopenia (18 neutropenia, two red cell aplasia, eight thrombocytopenia) and one had hypogammaglobulinaemia. Seven patients had long-standing arthropathy serologically proven to be rheumatoid arthritis and these had previously been considered to have Felty's syndrome. Five of the group have died (three with an aggressive course), but most have remained stable for prolonged periods with a slow increase in peripheral lymphocyte count and marrow infiltration. Spontaneous regression was never observed but in two patients a prolonged remission was achieved by chemotherapy. The lymphocytes were morphologically and phenotypically homogeneous at presentation and remained so post-splenectomy; they contained azurophilic granules, stained with acid phosphatase but weakly or not at all with alpha napthyl acetate esterase. Membrane phenotyping shows the majority of the cells to be E+, Fc gamma+, OKT3+, OKT8+. Most cells do not stain with OKT1-like reagents and a significant number express HLA-Dr. From these and other reported cases it is clear that this condition represents a distinct entity resulting from the expansion of a subset of cytotoxic/suppressor T cells--the question of the benign or neoplastic nature of the disease remains open. Using T cell-specific antisera and E-rosetting techniques, a small percentage of CLL cases have been shown to be of T-cell origin (TCLL) (Dickler et al, 1973; Lille et al, 1973). Estimates of the percentage vary but in most series T-CLL has been diagnosed in less than 5% (Brouet & Seligmann, 1981), and this is supported by date from the M.R.C. Leukaemia Unit which found T-CLL in only 1.5% of 600 cases of CLL examined by marker studies (D. Catovsky, unpublished). Amongst the published reports of T-CLL a variety of clinical and morphological entities have been described including T prolymphocytic leukaemia (TPLL) (Brouet et al. 1975) and adult T cell disease in Japanese (Uchiyama et al, 1977) and West Indian Caribbean groups (ATLL) (Catovsky et al, 1982). In the original series of Brouet & Seligmann (1981) the group was defined as presenting in middle age with marked hepatosplenomegaly, some lymphadenopathy, skin involvement and with an aggressive disease course; peripheral blood and marrow lymphocytosis were variable.(ABSTRACT TRUNCATED AT 400 WORDS)
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PMID:Chronic T cell lymphocytosis: a review of 21 cases. 633 88

We report a case of chronic myelogenous leukemia (CML) associated with pronounced peripheral lymphadenopathy, with the cells having the philadelphia (Phl) chromosome and T-cell features. A 23-year-old man who was diagnosed as having CML and treated with busulfan was admitted to our hospital because of increasing hepatosplenomegaly and pronounced lymphadenopathy. An axillary lymph node biopsy disclosed that the malignant cells formed rosettes with neuraminidase-treated sheep red blood cells (En) (95.0%) and were positive for Leu 1 (91.8%). Of the cytochemical reactions, peroxidase was negative and periodic acid-Shiff, acid alpha-naphthyl acetate esterase and beta-glucuronidase were all positive. The karyotype of the bone marrow cells was 46 XY Phl positive (22q-), and that of the lymph node cells was 51 XY Phl positive +8, +9, +18, +19, +21, 22q-. He was treated with various anti-leukemic agents and irradiation. Despite such treatments, he died of pneumonia. This is a report of a CML patients with blast crisis and tumor formation characterized by T-cell features.
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PMID:Blast crisis of chronic myelogenous leukemia with tumor formation characterized by T-cell features--a case report. 660 8

Technique of counterimmunoelectrophoresis (CIEP) on cellulose acetate membrane (Cellogel) is described for diagnosis of (human and canine) visceral leishmaniasis (VL). Various lots of antigen were grossly obtained from the liquid phase (10, 20 and 30 tubes respectively) of cultures of Leishmania donovani by repeated freezing and thawing. Sera from patients (and, in a few cases, dogs) with confirmed VL, other parasitic and non-parastic diseases (especially blood disorders and hepatosplenomegaly) and from blood donors were tested. Positive results were obtained in 91-93% (according to various lots) of the patients with VL. All sera from infected dogs gave positive results. No precipitin lines were detected in the control sera. Antigens from 30 (or 20 tubes) showed better results with regard to the evidence of the precipitin lines. Clarity of the precipitin bands appears to be in relation to: 1. the protein concentration of the antigens; 2. the antibody levels of the sera. CIEP on cellulose acetate membrane combine the features of good sensitivity, specificity and speed of performance and appear available for use also in epidemiological research.
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PMID:[Further observations on the use of counterimmunoelectrophoresis (CIEP) on cellulose acetate membrane (Cellogel) in the diagnosis of visceral leishmaniasis (author's transl)]. 724 99

Chronic granulomatous disease (CGD) is a very rare disease whose defect lies in an abnormal intracellular killing resulting in recurrent abscesses, lymphadenitis and granuloma formation. We describe 2 Malay male infants with CGD whom we believe to be the first report of this disorder in Malays. Both children presented with recurrent abscesses, pneumoniae and hepatosplenomegaly; lymphadenopathy was also present in one of the patients. The organisms isolated were catalase positive bacteria. Both neutrophil chemiluminescence (against fungal and bacterial antigens, phorbol myristate acetate) and intracellular killing assays were severely depressed. Recognition of CGD is important as great strides have been made in the treatment of this disease which include gamma interferon therapy besides the conventional prophylactic antibacterial therapy.
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PMID:Chronic granulomatous disease--a report in two Malay families. 770 72

In adult acquired hypogammaglobulinaemia multi focal granulomas have often been described and have regularly led to the hypothesis of an association with sarcoidosis. We present a case of this type in a man aged 29 who was a smoker with a hypoglobulinaemia involving IgG, IgA and IgM and which was discovered following pneumococcal pneumonias. He presented with a significant hepatosplenomegaly and absent cutaneous reactions to T dependent antigens with an elevated ACE activity. Histological examination of the splenectomy specimen and of the liver biopsy showed an infiltration by epithelioid follicles and confluent giant cells without necrosis. The pulmonary studies showed a normal chest radiograph but the bronchial biopsy again found a granulomatous infiltration. The broncho-alveolar lavage was cytologically normal and a very slight and paradoxical reduction of the alveolar immunoglobulins was noted implying either an active intra-alveolar concentration of immunoglobulins or a local synthesis. In the light of the few reported cases it seems that the diagnosis of sarcoidosis should be dismissed here in favour of multi focal granulomatosis with hypogammaglobulinaemia. In hypogammaglobulinaemia there is no clinical or biological method (IDR tuberculin, ACE, Kveim, histology) to confirm a superadded diagnosis of sarcoidosis.
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PMID:[Acquired hypogammaglobulinemia and multifocal granulomatosis]. 825 39

Visceral leishmaniasis (VL) produced in BALB/c mice through intracardial administration of Leishmania donovani amastigotes was accompanied by hepatosplenomegaly with high organ parasite load and lymphadenopathy when followed up to 4-months or so. To elucidate the mechanism of immunosuppression associated with VL, we report here progressive impairment of the proliferative response of lymph node cells (lymphocytes) from infected animals (I-LNC) to in vitro stimulation with the combination of phorbol 12-myristate 13-acetate (PMA) and ionomycin (Io) that could be related to the downregulation of PKC and MAP kinase (ERK 1/2) activation process. Further, pretreatment of I-LNC with the protein phosphatase inhibitor okadaic acid (OA), but not with calyculin A or sodium orthovanadate, significantly restored their proliferative response as well as PMA-induced activation of PKC. A population of LNC (primarily T-lymphocytes) from chronically infected animals was shown to undergo apoptosis, the number of which increased considerably following PMA+ Io stimulation. The apoptotic pathway, which was followed through binding of cells to Annexin V, activation of caspase-3 and fragmentation of DNA, involved destabilization of mitochondria, probably as a result of downregulation of PKC and Bcl-2. Interestingly, prior incubation of I-LNC with OA reversed the state of cell cycle arrest (anergy) and apoptosis through progression of cells from G0/G1 to S and G2/M phases with transcriptional activation of IL-2 and IL-2R genes. Our results suggest that the cellular (immune) dysfunction in VL could be attributed to dephosphorylation of key molecules in the T-lymphocyte signaling pathway by Ser/Thr phosphatase leading to their inactivation.
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PMID:Lymph node cells from BALB/c mice with chronic visceral leishmaniasis exhibiting cellular anergy and apoptosis: involvement of Ser/Thr phosphatase. 1701 55

A 3-year-old, male, domestic shorthaired cat was presented with a 3-day history of anorexia and depression. The cat was moderately dehydrated, had pale, slightly icteric, mucous membranes, oral ulcerations, and mild hepatosplenomegaly. A feline leukemia virus (FeLV) antigen test was positive. CBC results obtained at initial presentation included severe normocytic, normochromic, nonregenerative anemia, severe thrombocytopenia, and marked leukocytosis (>100,000/microL) with 77% eosinophils. After 15 days of treatment with prednisone and doxycycline, the cat had persistent severe nonregenerative anemia (HCT 3.4%), thrombocytopenia (28,000/microL), and extreme eosinophilia (total eosinophils, 123.1 x 10(3)/microL; segmented 103.0 x 10(3)/microL; immature 20.1 X 10(3)/microL). Cytologic examination of aspirates from bone marrow, liver, lymph nodes, and spleen revealed a predominance of mature and immature eosinophils, many with dysplastic changes. The M:E ratio was 96.4. On histopathologic examination, multiple organs were infiltrated by eosinophilic granulocytes. Neoplastic cells in blood and bone marrow stained positive for alkaline phosphatase and were negative for myeloperoxidase, chloroacetate esterase, and alpha-naphthyl acetate esterase. On flow cytometric analysis of peripheral blood, the neoplastic cells were positive for CD11b and CD14. These findings were consistent with chronic eosinophilic leukemia. To our knowledge, this is the first report of chronic eosinophilic leukemia in a cat associated with naturally acquired FeLV infection, in which flow cytometry was used to characterize the neoplastic cells.
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PMID:Chronic eosinophilic leukemia in a cat: cytochemical and immunophenotypical features. 1712 54


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