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)

All members in one generation and two of six members of the next generation were found to have familial thrombocytopenia. The disorder was transmitted as an autosomal dominant trait. Easy bruising and a bleeding tendency were the common features. No member had splenomegaly. Platelet counts varied from 8 to 75 x 10-9/liter, and there were no apparent morphologic abnormalities. Platelet survival studies using sodium chromate Cr 51-labeled autologous platelets were done for three members and showed shortened survival times. Two members were treated with corticosteroids and splenectomy without benefit. Three members tolerated surgery (splenectomy, polypectomy) without undue difficulty. Defective or ineffective thrombocytopoiesis appeared to be the basis of this hereditary disorder.
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PMID:Case report: familial thrombo-cytopenia in seven members of three generations. 65 72

The withdrawal of Cr-chromate has meant that the technique commonly used for direct measurement of red cell volume has had to be replaced. Most centres moved to a Tc erythrocyte label, however, Tc is known to dissociate over time. We have investigated an alternative technique using an In-chloride and tropolone solution and tested this both in vitro and in vivo. Initial in-vitro and in-vivo work, which included a check of the stability of the radio-labelled product at one hour, demonstrated this label to be stable over this time period. To date, 20 patients have undergone this technique and results show that this technique is a viable alternative to Cr-chromate particularly for patients with splenomegaly who require late sampling. This procedure is now in routine use in our institution.
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PMID:Red cell volume measurement - using indium as a replacement for chromium. 3294 91