Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026986 (myelodysplastic syndrome)
 14,926 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Bernard-Soulier syndrome is an inherited bleeding abnormality characterized by thrombocytopenia with large platelets and deficiency of the platelet membrane glycoprotein (GP) Ib-IX complex. We have identified a young female with an acquired Bernard-Soulier-like platelet defect and a coexisting primary myelodysplastic disorder. Abnormal bruising had developed at age 5. A normal platelet count with some giant platelets was noted at age 7. At age 9 she developed a large haematoma following surgery. Laboratory investigation revealed thrombocytopenia and large platelets. Platelet membrane glycoprotein analysis showed a marked deficiency of the components of the GP Ib-IX complex (approximately equal to 25% of normal). Flow cytometry revealed two populations of platelets: a predominant population of large platelets lacking the GP Ib-IX complex and a minor population of normal-sized platelets with normal GP Ib-IX expression. The patient developed progressive anaemia, more severe thrombocytopenia and neutropenia, and circulating blast cells were seen. A bone marrow showed gross hypercellularity with marked dysplasia of all three lineages and increased blasts. Marrow cytogenetic studies showed the presence of monosomy 7 in all metaphases, with an additional trisomy 21 in 10%. Peripheral blood cells were normal 46XX. The above data are consistent with an acquired myelodysplastic syndrome associated with a Bernard-Soulier-like platelet defect.
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PMID:An acquired Bernard-Soulier-like platelet defect associated with juvenile myelodysplastic syndrome. 334 99

Platelet function was studied in a child with myelodysplastic syndrome (MDS: refractory anemia with an excess of blasts) and a child with acute myeloblastic leukemia (AML-M6) associated with trilineage myelodysplasia (TMDS). An acquired Bernard-Soulier-like platelet defect was considered in both patients with the findings of prolonged bleeding time and abnormally large platelets that failed to aggregate in response to ristocetin. In contrast to findings in von Willebrand's disease, the abnormal response of platelets to ristocetin could not be corrected by the addition of normal flesh plasma. The detection of abnormal platelet aggregation response to ristocetin may be a useful diagnostic finding for clonal disorders causing impaired platelet function in MDS and coexistent TMDS associated with AML. Further studies of ristocetin-induced platelet aggregation in a large number of these patients are required.
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PMID:Bernard-Soulier-like functional platelet defect in myelodysplastic syndrome and in acute myeloblastic leukemia associated with trilineage myelodysplasia. 856 Jun 14

Recombinant activated factor VII (rFVIIa; NovoSeven, Novo Nordisk A/S, Bagsvaerd, Denmark), used extensively for the management of hemophilia patients with inhibitors, has also been shown to be effective in the treatment of severe bleeding episodes and for coverage of surgical procedures in patients with platelet disorders. Cases include seven patients with congenital platelet disorders [Glanzmann thrombasthenia (n = 5), Bernard-Soulier syndrome (n = 1), platelet type (pseudo-) von Willebrand disease (n = 1)] and two patients with acquired thrombocytopathy associated with myelodysplastic syndrome and uremia. The clinical efficacy of rFVIIa in functional platelet disorders has been reported as good or excellent, although some cases of ineffectiveness exist. The agent is well tolerated with a single published case of thromboembolism as a postoperative complication. In addition to these reported cases, there are others that remain unreported and unpublished. An International Registry on Recombinant Factor VIIa and Congenital Platelet Disorders (forms in Appendix 1) has been established to obtain more safety and efficacy data on patients with congenital platelet disorders treated with NovoSeven. Analysis of data from this larger population will allow better comprehension of the role of NovoSeven in these disorders, and assist in the design of formal studies to address issues associated with the treatment of these disorders.
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PMID:Recombinant activated factor VII (NovoSeven) treatment of platelet-related bleeding disorders. International Registry on Recombinant Factor VIIa and Congenital Platelet Disorders Group. 1085 May 67

Platelet glycoproteins subserve a wide variety of critical functions in blood platelets. Congenital deficiencies or functional abnormalities in platelet glycoproteins may produce serious bleeding disorders such as Glanzmann thrombasthenia or Bernard-Soulier syndrome. Other hematologic disorders, such as Fanconi anemia and various myelodysplastic syndromes, may also be associated with abnormalities in platelet glycoproteins. Additionally, several acquired disorders involving the major platelet glycoproteins are increasingly being recognized. The large number of techniques, now available to characterize platelet glycoprotein disorders, reflect the many advances in biochemistry, molecular analysis, flow cytometry, and, most recently, proteomics. The application of platelet glycoprotein analysis to a wide range of clinical disorders is reviewed in this article.
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PMID:Glycoprotein analysis for the diagnostic evaluation of platelet disorders. 1940 95