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)

Infection of BALB/c mice with the RLV-A virus normally induces an erythropoietic dysplasia characterized by hepatosplenomegaly, erythroblastosis, erythroblastemia and severe anemia without reticulocytosis. Time to death varies between 20-30 weeks. Mice were inoculated with RLV-A after being hypertransfused with 75% packed red cells for 42 days which has been shown to eliminate erythropoiesis and modify the microenvironment to favor granulopoiesis. Following RLV-A inoculation, one group did not receive further transfusion (short-term) and another group continued with hypertransfusion weekly (long-term). The pathogenesis of RLV-A in the short-term group paralleled the characteristic RLV-A response. In the long-term group however, the characteristic RLV-A response was never observed. Instead, a granulocytic leukemia was developed. Continued hypertransfusion presumably after establishment of an altered microenvironment resulted in a completely different viral pathogenesis and the development of a transplantable myeloid leukemia.
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PMID:Effect of sustained hypertransfusion on Rauscher leukemia virus-variant A (RLV-A) infection in BALB/c mice. 322 6

The aetiology, clinical course and affected organs were studied in 124 patients with acquired systemic amyloidosis and seven patients with organ-limited amyloid deposits. Seventy-five patients had reactive systemic AA amyloidosis, which was associated with rheumatic disease in 55 and with chronic infection in 13 cases. Forty-nine patients had systemic AL amyloidosis. Thirteen of these cases were associated with myelomatosis and 11 with non-malignant immunocyte dyscrasias. In 25 patients with systemic AL disease no immunocyte dyscrasia was identified. Renal involvement dominated the clinical course of both forms of systemic amyloidosis, and renal failure was the most common cause of death. Gastrointestinal disturbance and hepatosplenomegaly were found in both AA and AL disease, although differences were noted in the distribution of amyloid protein within rectal biopsies. Amyloid cardiomyopathy, neuropathy and macroglossia were present in patients with AL amyloidosis only. These clinical patterns were reflected by tissue distribution at necropsy in 67 patients.
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PMID:Ten years' experience of an amyloid clinic--a clinicopathological survey. 399 77

Four infants with skin rash, hepatosplenomegaly, lymphocytosis, eosinophilis, and histiocytic infiltration of the lymph nodes and skin are described; in each of these infants an initial diagnosis of the Letterer-Siwe syndrome was made. Postmortem findings of thymic dysplasia and poorly differentiated, lymphopenic peripheral lympoid tissue in each of the four infants, as well as antimortem clinical findings in one, established a diagnosis of severe combined immunodeficiency. From these and similar cases in the literature, we postulate that the Letterer-Siwe syndrome may not be an unusual presentation of combined immunodeficiency. Appropriate immunologic studies will help to differentiate the two disorders.
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PMID:Combined immunodeficiency presenting as the Letterer-Siwe syndrome. 444 54

A variant of Rauscher leukemia virus, designated RLV-A, induces a protracted hematopoietic dysplasia characterized by hepatosplenomegaly with erythroblastosis, severe terminal anemia, thrombocytopenia, and erythroblastemia. Erythrocyte and platelet survival is reduced and the ferrokinetic data suggest that iron utilization is faulty. Stem cells (CFU-S, CFU-C, CFU-MK, CFU-E, BFU-E) are reduced in the bone marrow but increased in terminal spleens. The cause(s) of these viral-associated alterations in stem cell numbers is not known.
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PMID:Viral-associated alterations in hematopoiesis in the mouse. 654 51

Four middle-aged male Chinese with polyneuropathy, skin hyperpigmentation, oedema, hepatosplenomegaly, ascites, gynaecomastia and white nails are described. In Japan and United States this syndrome has been associated with plasma cell dyscrasia. However, neither M-protein nor skeletal lesions were demonstrated in these four patients.
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PMID:Syndrome of polyneuropathy, skin hyperpigmentation, oedema and hepatosplenomegaly. 666 9

11 patients with plasma cell leukaemia (PCL) are reported. Diagnostic clinical, haematological, immunological, biochemical and electron microscopical (TEM) data were analysed and compared to the largest series of PCL cases reported in the literature. Special attention was paid to four facets of this disease: (a) the clinical picture at admission; (b) the frequency of PCL; (c) the production of M components in relation to the maturity and type of the asynchronous plasma cells, and (d) the diagnostic problems of this entity of acute leukaemia of the afferent limb of the B lymphocyte transformation. In this series PCL emerges as a distinct clinical entity: patients are severely anaemic, hepatosplenomegaly is prominent, bone lessions are uncommun, but if present are usually non-osteolytic, and the response to treatment with an alkylating agent and glucocorticoid is poor. The diagnosis is difficult since the circulating plasma cells may have morphological features which only allows the diagnosis to be made after the TEM examination. If the peripheral blood of cases of acute leukaemias and immunocytic dyscrasias is routinely examined by TEM, PCL appears to be a not uncommon variant of plasma cell dyscrasia--in the present study it was 11%.
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PMID:Plasma cell leukaemia. Diagnostic problems in our experience with 11 cases. 676 79

A patient with Engelmann's disease of bone (progressive diaphyseal dysplasia) also suffered from Raynaud's phenomenon, multiple nail fold infarcts, anaemia, leucopenia, hepatosplenomegaly, and a raised erythrocyte sedimentation rate. Her mother, who also had this inherited bone disease, was known to have Raynaud's phenomenon, necrotising vasculitis, and digital gangrene. Review of other published cases of Engelmann's disease indicates that some of these features are not uncommon. It is argued that Engelmann's disease is not primarily a metabolic bone disease but may be a systemic disorder which might be included within the spectrum of the inflammatory connective tissue diseases. The beneficial effects of steroid treatment on both skeletal and systemic features are compatible with this view.
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PMID:Engelmann's disease of bone--a systemic disorder? 707 46

Gingival fibromatosis may be reported as an isolated finding or associated with a number of distinct and frequently inherited group of disorders. The characteristics of the Laband syndrome include gingival hyperplasia, dysplasia of the terminal phalanges and nails of extremities, hepatosplenomegaly and facial dysmorphism. Another well-known syndrome with gingival fibromatosis associates generalized hypertrichosis and inconstant mental retardation and epilepsy. We report a case with features of Laband syndrome and congenital marked hypertrichosis, suggesting overlap between these two genetic disorders.
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PMID:Congenital marked hypertrichosis and Laband syndrome in a child: overlap between the gingival fibromatosis-hypertrichosis and Laband syndromes. 781 25

A 31-year-old woman presented with fever and arthralgia. Despite treatment with antimicrobials and corticosteroids, her symptoms persisted. A diagnosis of myelodysplastic syndrome (MDS)-refractory anemia (RA) was made by pancytopenia, dysplasia, and trisomy 8. Cultures of bone marrow, blood, and gastric juice showed Mycobacterium avium-intracellulare (MAI). She was treated with antimycobacterial drugs and recombinant human G-CSF/M-CSF and showed an initial response, but spike fever recurred and pancytopenia progressed. Hepatosplenomegaly and marked retroperitoneal lymphadenopathy were revealed, indicating further dissemination of MAI. Treatment with recombinant human GM-CSF and very-low-dose cytosine arabinoside, was started but was not effective. This case showed significant reduction in peripheral blood T-lymphocytes, especially the CD4+ population, and low immunoglobulin levels. Immunodeficiency state associated with long-term steroid therapy and MDS seemed to contribute to the development of the disseminated infection with MAI.
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PMID:Disseminated Mycobacterium avium-intracellulare infection in a patient with myelodysplastic syndrome (refractory anemia). 817 3

Geleophysics dysplasia, a rare disorder with autosomal-recessive inheritance, is characterized by short stature with a "happy-looking" facial appearance. Nonskeletal findings, particularly in an advanced stage, include hepatosplenomegaly and valvular cardiopathy. Based on the clinical picture and the detection of lysosome-like inclusions in hepatocytes, the underlying cause of the condition is considered to be a storage defect in the metabolism of glycoproteins. The clinical course, with progressive worsening of the condition favors this hypothesis. We report on 3 further cases, in which light and electron microscopic studies of iliac crest biopsies and cultured skin fibroblasts provided additional evidence that geleophysic dysplasia represents a lysosomal storage disease. The additional discovery of storage vacuoles in chondrocytes and skin fibroblasts strongly suggests that the condition is a generalized storage defect. To date, it has not yet been possible to identify the presumed biochemical defect in the metabolic pathways of glycoproteins.
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PMID:Clinical and ultrastructural findings in three patients with geleophysic dysplasia. 872 86


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