1/80. Prenatal determination of human platelet antigen type 4 by dna amplification of amniotic fluid cells.To predict a fetus at risk for neonatal alloimmune thrombocytopenia (NATP) caused by human platelet antigen (HPA)-4 incompatibility, we applied a sequence-specific polymerase chain reaction (PCR-SSP). We were able to determine the HPA-4 genotype of three infants at risk using amniotic fluid cells without the need for fetal blood sampling. The HPA-4 genotypes of amniotic fluid cells determined in this way were completely concordant with the genotype and phenotype of infants' venous blood samples obtained after delivery. Therefore, this technique is also convenient to a fetus at risk in the antenatal management of NATP induced by HPA-4 incompatibility.- - - - - - - - - - ranking = 1keywords = incompatibility (Clic here for more details about this article) |
2/80. Sebastian syndrome: case report and review of the literature.Macrothrombocytopenias (MTCP) are a heterogeneous group of disorders associated with thrombocytopenia and giant platelets, and may include other clinical or laboratory findings such as hereditary nephritis, sensorineural deafness, leukocyte inclusions, and cataracts. patients with MTCP may have mild to moderate bleeding symptoms or be completely asymptomatic. The most recently described MTCP is the Sebastian syndrome (SS), which consists of thrombocytopenia with giant platelets and leukocyte inclusions. Only three previous reports about this syndrome have been published. Herein, we report the first African-American family with SS. The propositus is a 4-week-old male born to a mother carrying the diagnosis of chronic idiopathic thrombocytopenia purpura (ITP). His 4-year-old brother also has thrombocytopenia. There is no history of bleeding symptoms in any of the family members. The diagnosis was established by demonstrating thrombocytopenia with giant platelets and leukocyte inclusions on both peripheral smear and by electron microscopy. This report illustrates the importance of obtaining a family history when evaluating thrombocytopenia with special emphasis on a history of thrombocytopenia, renal disease, deafness, and cataracts. It is important to differentiate between MTCP and chronic ITP to avoid the unnecessary diagnostic studies, and, more critically, unneeded and potentially harmful therapy.- - - - - - - - - - ranking = 1.2579835847185E-5keywords = group (Clic here for more details about this article) |
3/80. Perinatal management of fetal hemolytic disease due to Rh incompatibility combined with fetal alloimmune thrombocytopenia due to HPA-5b incompatibility.We report out experience in the perinatal management of a complex case of fetal hemolytic disease primarily due to Rhesus incompatibility combined with fetal alloimmune thrombocytopenia. The lowest fetal hemoglobin and platelet levels were 2.6 g/dl and 13,000/microliter, respectively. Intrauterine treatment consisted of six transfusions of packed red cells into the umbilical vein and one transfusion of platelets. The neonate required four transfusions of packed red cells to correct her hyporegenerative erythropoiesis. Postnatal management also included one platelet transfusion, intravenous immunoglobulins and erythropoietin. Although some degree of fetal thrombocytopenia may invariably be found in fetal red cell incompatibility, other rare causes need to be excluded.- - - - - - - - - - ranking = 5keywords = incompatibility (Clic here for more details about this article) |
4/80. A group of previously not recognized cytogenetic abnormalities in myeloid hematological malignancies.We have identified a group of previously not reported chromosome abnormalities related to myeloid hematological malignancies. Cases 1 and 2 were observed to have an additional i(4)(p10) as the sole anomaly with similar clinical features of myeloid disorders; that is, acute nonlymphocytic leukemia (ANLL-M2) and myelodysplastic syndrome (MDS)-refractory anemia with an excess of blasts in transformation, respectively. fluorescence in situ hybridization studies with the use of a 4p-specific microdissection probe further confirmed the presence of an i(4)(p10) in these patients. Case 3 was diagnosed with ANLL-M1 and had an additional i(8)(p10) as the only change, also confirmed by a whole-chromosome painting procedure. In cases 4-6, deletions of 18q at breakpoints q12, q23, and q21 were identified as the sole anomaly in a myeloproliferative disorder (MPD), MPD, and MDS, respectively. X-autosome translocations other than t(X;10)(p11;p11) and t(X;11)(q13;q23) have not been reported as recurrent or primary changes in hematological disorders. In the present study, a t(X;9)(q26;q22) and t(X;5)(q13;q33) as the sole anomaly were found in cases 7 and 8, respectively. Both cases had the same diagnosis of MDS. Considering that trisomies 4 ( 4) and 8 ( 8) are common anomalies in MDS and ANLL, our findings strongly indicate that amplification of genes on 4p and 8p, but not on 4q and 8q, may play a crucial role in the pathogenesis of MDS and ANLL. In addition, genes on 18q12-23 and on Xq13-26 may be involved in the pathogenesis of myeloid disorders.- - - - - - - - - - ranking = 6.2899179235927E-5keywords = group (Clic here for more details about this article) |
5/80. Acquired amegakaryocytic thrombocytopenia treated with allogeneic BMT: a case report and review of the literature.Despite recent advances in understanding the biology of thrombopoiesis, autoimmune thrombocytopenia caused by inhibition of megakaryocytic precursors, remains a treatment dilemma. We report a case of a 43-year-old female who developed amegakaryocytic thrombocyto- penia refractory to intravenous immunoglobulin (IVIG), prednisone, cytoxan and vincristine. She was subsequently treated with myeloablative chemotherapy (busulfan and cyclophosphamide) followed by allogeneic bone marrow transplant from a 6/6 HLA-matched sibling. The patient is currently more than 1 year after transplant with complete donor chimerism and restoration of normal thrombopoiesis. A review of the literature shows that the clinical syndrome known as amegakaryocytic thrombocytopenia represents a heterogeneous group of disorders, and clinical experience with immunosuppression varies. Appropriate initial treatment for these patients requires immunosuppressive agents, including antithymocyte globulin (ATG) for steroid refractory disease. However, in the case of symptomatic patients who have an appropriate sibling donor, early hematopoietic progenitor cell transplant, even before administration of ATG, may be necessary. Further studies are needed to better define the pathogenesis and mechanism of this heterogeneous disorder before more definitive treatment algorithms can be established.- - - - - - - - - - ranking = 1.2579835847185E-5keywords = group (Clic here for more details about this article) |
6/80. Hereditary thrombocytopenia due to reduced platelet production--report on two families and mutational screening of the thrombopoietin receptor gene (c-mpl).Hereditary thrombocytopenias represent heterogeneous clinical and genetic syndromes. They include a consistent group of families which are considered as a separate clinical entity, characterized by autosomal dominant transmission, incomplete penetrance in females, chronic thrombocytopenia with early age of onset and frequently increased platelet volume, without any other hematologic abnormality. The molecular defect in these families is still unknown. We describe 2 families in 3 generations (10 patients), and report the first study of the TPO/c-mpl system in autosomal dominant thrombocytopenia. We performed mutational screening of c-mpl coding, flanking introns and promoter regions in 2 probands from the two families by dna sequencing. The results do not provide evidence of c-mpl sequence alterations in either of the 2 families investigated. Moreover, the normal TPO serum levels detected in 5 patients from each family leads us to exclude the possibility of a defect in TPO production in our families. Finally, the involvement of both c-mpl and TPO genes in the pathogenesis of thrombocytopenia in these two families was excluded by negative results of linkage analysis.- - - - - - - - - - ranking = 1.2579835847185E-5keywords = group (Clic here for more details about this article) |
7/80. Successful treatment of alloimmune thrombocytopenia using corticosteroid therapy in a woman with two consecutive neonatal deaths--case report.Alloimmune thrombocytopenia is a serious fetal disorder resulting from platelet-antigen incompatibility between the mother and the fetus. In mild cases, the diagnosis is usually made upon detection of neonatal thrombocytopenia, but serious consequences such as fetal intracranial hemorrhage and/or unexplained fetal death may complicate the disorder. Various treatment modalities are suggested in the management of alloimmune thrombocytopenia, however, none has yet been confirmed as obviously superior. We report on the successful use of corticosteroids during pregnancy in a woman with a history of two consecutive neonatal deaths due to severe thrombocytopenia and HPA 5b platelet-specific antigen incompatibility.- - - - - - - - - - ranking = 1keywords = incompatibility (Clic here for more details about this article) |
8/80. Fy phenotype and gender determine plasma levels of monocyte chemotactic protein.BACKGROUND: in vitro studies indicate that the Fy blood group system antigens serve as receptors for chemokines such as monocyte chemotactic protein-1 (MCP-1) and RANTES. However, it is unclear whether subjects with the Fy(a-b-) phenotype exhibit altered clearance and hence altered plasma levels of chemo-kines, because they still express Fy on endothelial cells. STUDY DESIGN AND methods: To clarify a possible in vivo role of Fy on RBCs in the regulation of chemo-kine levels, healthy young volunteers of common Fy phenotypes were compared in a cross-sectional study. RESULTS: More than 90 percent of the 34 subjects of African origin were Fy(a-b-), one black volunteer was Fy(a b-), and two were Fy(a-b ). As expected, all 65 white volunteers were positive for either Fy(a) and/or Fy(b). Unexpectedly, persons expressing either Fy(a) and/or Fy(b) had significantly higher plasma levels of MCP-1 than Fy(a-b-) volunteers (women: 154 vs. 110 ng/L, p<0.01; men: 179 vs. 169 ng/L, p = 0.03). Surprisingly, plasma levels of MCP-1 were found to be sex-dependent: median MCP-1 levels averaged 180 ng per L in men but only 139 ng per L in women (p<0.001). Further, MCP-1 levels decreased significantly throughout the menstrual cycle of 18 women studied longitudinally. CONCLUSION: MCP-1 levels are about 30 percent higher in men than in premenopausal women, and MCP-1 levels are also higher in persons with RBCs expressing Fy antigens than in Fy(a-b-) persons. These findings have direct implications for the concept and interpretation of clinical studies measuring MCP-1 levels; the role of the observed differences in MCP-1 levels for the pathogenesis of MCP-1-dependent diseases, such as atherosclerosis, merits further investigation.- - - - - - - - - - ranking = 1.2579835847185E-5keywords = group (Clic here for more details about this article) |
9/80. Splenic angiosarcoma and iron deficiency anemia in a 43-year-old man.thrombocytopenia and microcytic anemia are two laboratory findings that alone or together suggest an underlying disease process. Both are found throughout particular age groups and have broad differential diagnoses. Angiosarcomas are rare neoplasms from the lining of blood vessels. Primary splenic angiosarcoma is an even rarer neoplasm, first reported in the late 1870s. We report a case of primary splenic angiosarcoma in a patient with thrombocytopenia, microcytic anemia, and splenomegaly.- - - - - - - - - - ranking = 1.2579835847185E-5keywords = group (Clic here for more details about this article) |
10/80. Danaparoid sodium (Orgaran) in four children with heparin-induced thrombocytopenia type II.We report on four children with heparin-induced thrombocytopenia type II. In three patients, therapy with unfractionated heparin was associated with development of cardiac thrombi or with thrombosis progression up to the inferior vena cava or with aggravation of peripheral arterial occlusion. In the fourth child, the disease was recognized early on, and no complication occurred. heparin-induced thrombocytopenia type II was confirmed by heparin-induced platelet activation assay and/or heparin/platelet factor 4-ELISA. Concomitant elevated antiphospholipid antibodies were seen in all patients. Danaparoid sodium applied at a dosage of between 1.2 and 7.1 U/kg/h stopped the disease progression in each patient. Three children had a clinical recovery with partial recanalization, but for the child with peripheral arterial occlusion disease, amputation of some of the toes became necessary. CONCLUSION: Our data indicate that heparin-induced thrombocytopenia type II is a potential life-threatening disease in children and danaparoid sodium is beneficial in this age group.- - - - - - - - - - ranking = 1.2579835847185E-5keywords = group (Clic here for more details about this article) |
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