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)

During the summer of 1980, acute Manson's Schistosomiasis occurred in 28 pediatric patients, swimming in two ponds with no watershed connections between them, in the rural area of Juncos and Cidra, Puerto Rico. Clinical and immunological events were studied and Oxamniquine (Vansil, Pfizer) was administered to all of them and followed closely for 3 years. Fever and general malaise recorded in 93% of the patients, diarrhea and abdominal pain in 68% and urticaria or facial edema in 64%. Hepato and/or splenomegaly was recorded in 71% of them. Twenty seven of the patients had evidence of immunoserological activity against adult schistosomal antigens (GASP and PSAP). Two patients had intense immunologic activity, even before the recovering of fresh Schistosoma mansoni eggs in their stool. This was a response to GASP and PSAP antigens. When they started passing fresh eggs of schistosoma and COP (Circumoval Precipitation Test) turned positive, their clinical status worsened and antibodies to GASP antigen increased two fold. The oviposition phase elicited a strong antibody and immunological reaction with significant eosinophilia and cross reaction was observed between adult schistosomal and egg shell antigens. Severe clinical manifestations were seen in spite of low egg excretion. Oxamniquine was effective in obtaining a coprological cure and in altering the immunologic response as compared with other untreated groups in literature.
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PMID:The efficacy of oxamniquine in acute schistosomiasis: a clinical analysis of 28 treated patients. 943 87

Gaucher disease is an autosomal recessive condition due to glucocerebrosidase deficiency responsible for the lysosomal accumulation of glucosylceramide, a complex lipid derived from cell membranes, mainly in macrophages. It is due to mutations mostly in the GBA gene, although saposine C deficiency is due to mutations in the PSAP gene. It encompasses an extremely heterogeneous spectrum of clinical involvement from the fetus to adulthood. Splenomegaly, blood cytopenia, and bone involvement are the main manifestations of Gaucher disease, but nervous system degeneration is observed in about 5-10% of patients. The accumulation in neurons of glucosylceramide and its derivative, psychosine, are thought to underlie neuronal dysfunction and death, although Gaucher cells that mostly accumulate such substances are mainly macrophages. Enzyme replacement therapy dramatically improves the outcome of patients because of its extreme efficacy in the treatment of the systemic involvement. However, it has only limited effects on most neurological signs.
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PMID:Gaucher disease. 2362 93