Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019209 (hepatomegaly)
 5,798 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The clinical, pathologic, and immunologic aspects of malignant lymphoma of centrocytic type (ML,cc) were studied at diagnosis and often at relapse in 18 patients. The typical patient was a middle-aged or older man with adenopathy, often massive splenomegaly, hepatomegaly, marrow involvement, and, not infrequently, peripheral blood involvement. Histopathologically, ML,cc had a diffuse or vaguely nodular growth pattern with, predominantly, cells resembling centrocytes (cleaved follicular center cells) sometimes with admixed small round lymphocytes but with virtually no transformed cells. In 2 cases the neoplastic cells formed a mantle zone around reactive-appearing follicles. Cell suspensions and frozen sections revealed the monoclonal B-cell nature of all but 1 nonmarking case, and the polyclonality of the follicles in the 1 mantle zone case tested. The B cells had some, but not all, characteristics of both normal mantle and follicular center cells when eight nodes were studied with the use of a panel of monoclonal antibodies, peanut lectin, and endogenous alkaline phosphatase activity. Of 13 patients who underwent repeat biopsies, 1 developed a high grade unclassifiable B-cell lymphoma, and 6 had less marked changes. None of 7 patients tested had a change in light chain class. In conclusion, ML,cc is a distinct entity separable from other B-cell lymphomas in which either centrocytes or small round lymphocytes predominate.
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PMID:Centrocytic lymphoma: a distinct clinicopathologic and immunologic entity. A multiparameter study of 18 cases at diagnosis and relapse. 641 75

Gaucher's disease is a genetically determined inborn error of metabolism in which acid beta-glucosidase or one of its cofactors is absent or diminished in macrophage cells and cause an accumulation of glucosylceramide in these cells. These Gaucher cells accumulate in the organs of the reticuloendothelial system and cause varying degrees of splenomegaly, hepatomegaly, and encroachment of the marrow cavity of bones. Dental radiographs often reveal consistent bony changes that result from this encroachment. In cases where visceral signs are not apparent, dental radiographs can detect the presence of the disease. Because therapy is available, early recognition of this disorder may reduce overall morbidity. A review of the dental radiographic changes over as many as 60 years shows the effects of oral surgery procedures on bone degeneration and regeneration. The effects of mannose lectin acid beta-glucosidase, alglucerase on bone deposition are discussed. Finally, a literature review shows that the changes in the dental radiograph of patients with Gaucher's disease are very specific. Currently, this disorder and its associated molecular genetics are a prototype for research of new treatments such as allogenic bone marrow transplantation and molecularly engineered enzymes.
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PMID:Dental observations in Gaucher's disease: review of the literature and two case reports with 13- and 60-year follow-ups. 897 38

The synthesis of the common and well-documented Siaalpha 2,6 to Galbeta 1,4GlcNAc structure (Sia6LacNAc) is principally mediated by the sialyltransferase ST6Gal I, which is particularly highly expressed in liver, lactating mammary gland, intestinal epithelia of newborn animals, and B cells. Multiple independent promoters govern the expression of Siat1, the ST6Gal I gene. In liver, elevation of hepatic and serum ST6Gal is part of the acute phase reaction, the hepatic response to systemic trauma, and is governed by the inducible, liver-specific promoter-regulatory region, P1. A constitutive and nontissue-specific promoter, P3, mediates low-level, basal hepatic Siat1 transcription. We generated a mouse specifically unable to use the transcriptional initiation site uniquely used in P1-mediated ST6Gal I expression. These animals, Siat1deltaP1, are viable and display reduced ST6Gal I mRNA in liver with concomitantly reduced sialyltransferase activities in liver and in serum. Siat1deltaP1 animals are unable to elevate hepatic Siat1 mRNA as part of the inflammatory response induced by turpentine. Surprisingly, serum glycoprotein components exhibit normal extent of sialylation, with no noticeable difference in binding to SNA, the alpha2,6-sialyl-specific lectin. Siat1deltaP1 animals also exhibit an outwardly normal B cell response. On intraperitoneal challenge with the pathogen Salmonella typhimurium, a significantly greater accumulation of neutrophils within the peritoneal space was observed in Siat1deltaP1 animals compared to wild-type mice. Siat1deltaP1 mice also exhibit a greater bacterial burden in liver and spleen, accompanied by more pronounced spleno-/hepatomegaly and greater leukocyte infiltration into affected organs than their wild-type counterparts.
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PMID:Biologic contribution of P1 promoter-mediated expression of ST6Gal I sialyltransferase. 1267