摘要:

AbstractEndothelial damage is thought to be a contributing factor in the pathogenesis of Thrombotic Thrombocytopenic Purpura/Hemolytic Uremic Syndromes (TTP/HUS). The present studies measured two markers of endothelial cell stimulation and/or activation [von Willebrand Factor (vWF:Ag) and thrombomodulin (TM)] in patients with TTP/HUS disorders and compared them to controls. The patient groups consisted of adults with TTP/HUS, with (n = 13) and without (n = 14) peak Cr levels>2.0 mg/dl. Additionally, 52 patients with Bone Marrow Transplant‐associated Thrombotic Microangiopathy (BMT‐TM) following allogeneic BMT were evaluated. Both vWF:Ag and TM were elevated in all patient groups compared to controls. TTP/HUS patients with peak Cr>2.0 mg/dl had higher TM levels (P<0.001) than did those with peak Cr levels below 2 mg/dl. However, thrombomodulin/creatinine (TM/Cr) ratios did not differ in these two groups nor did they differ from controls. BMT‐TM pts had higher vWF:Ag levels and higher TM/Cr ratios than controls and TTP/HUS,P<0.001. The median TM/Cr ratio in BMT‐TM was 91 (range = 34–229) compared to 38 (range = 29–50) in controls,P<0.001 and 38 (range = 6 to 156) in TTP/HUS,P<0.001. Additionally both TM (P<0.001) and TM/Cr (P<0.02) were higher in patients with Grades 3 and 4 BMT‐TM compared to those with Grade 2 BMT‐TM. These results suggest that endothelial cell activation occurs in TTP/HUS and BMT‐TM. Since TM/Cr ratios were higher in BMT‐TM compared to TTP/HUS, these findings suggest that the mechanism of elevated TM in BMT‐TM cannot be explained solely by altered renal excretion. Taken together, these findings strongly indicate a role of endothelial cell damage in BMT‐TM.

ISSN:0361-8609    

DOI:10.1002/(SICI)1096-8652(199612)53:4<213::AID-AJH1>3.0.CO;2-0

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1996

数据来源: WILEY

摘要:

AbstractClinical and metabolic studies were performed in four members of a Spanish family with partial (50%) 6 phosphogluconate dehydrogenase (6PGD) deficiency. In all cases the activities of 6 phosphogluconolactone (6PGL) and glutathione reductase (GR) were normal, and the molecular characterization performed in the partially purified 6PGD from the propositus showed normal kinetic and electrophoretic patterns. Two females (the propositus and her sister) suffered from a well‐compensated chronic nonspherocytic hemolytic anemia (CNSHA) and exhibited decreased RBC glutathione (GSH) stability with increased oxidative susceptibility, defined by enhanced malonyldialdehyde (MDA) generation “in vitro.” The other two members of the family (the propositus's mother and brother) were clinically asymptomatic. In the propositus and her sister, RBC metabolism exhibited a markedly abnormal concentration of glycolytic intermediates, mainly characterized by striking increases in fructose 1,6 bisphosphate (50‐fold), dihydroxiacetone‐phosphate (20‐fold) and glyceraldehyde 3‐phosphate (tenfold).Although the precise mechanism of the hemolysis in the two patients is unknown, the enhanced oxidative threat observed in their RBCs may interfere in some way with the glycolytic pathway function, leading to a marked increase in certain metabolic intermediates located before the glyceraldehyde 3 phosphate dehydrogenase (GA3PD) step. Since it seems that GA3PD half‐life is modulated by fluctuations of the cytosolic redox status, an “in situ” approach was simulated by using permeabilized RBCs. In these conditions, GA3PD activity was significantly lower in the propositus and her sister than in the asymptomatic members of the family and the simultaneous normal control. ©

ISSN:0361-8609    

DOI:10.1002/(SICI)1096-8652(199612)53:4<221::AID-AJH2>3.0.CO;2-#

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1996

数据来源: WILEY

摘要:

AbstractIn order to perform genetic counselling and prenatal diagnosis of Hb‐S‐β‐thalassemia disease and β‐thalassemia, we have delineated the spectrum of β‐thalassemia alleles in the Guadeloupean population. A sample of 63 unrelated families was analyzed including 70 β‐thalassemia carriers, 52 Hb‐S‐β‐thalassemia, and 8 patients with different β‐thalassemic hemoglobinopathies. Among the eleven mutations identified, four of them [‐29 (A → G), IVS‐I‐5 (G → A), IVS‐II‐1 (G → A), and IVS‐I‐5 (G → C)] account for 77.6% of the β‐thalassemia chromosomes present in the studied families. The seven other variants, CD 24 (T → A), IVS‐I‐2 (T → C), Poly A (T → C), ‐88 (C → T), IVS‐II‐849 (A → G), Hb E, and Hb Lepore are less frequent. As a result, Hb S‐β ‐thalassemia type 1 (low Hb A values: 5–15%) together with Hb S‐β°‐thalassemia phenotypes are as frequent as Hb S‐β+‐thalassemia type 2 (high Hb A values: 20–30%) in the Guadeloupean population. Patients with Hb S‐β ‐thalassemia type 2 have milder hematological manifestations of the disease compared to patients with Hb S‐β°‐thalassemia and Hb S‐β+‐thalassemia type 1. This first report on the type and nature of β‐thalassemia mutations in Guadeloupe shows that prenatal diagnosis of Hb S‐β‐thalassemi

ISSN:0361-8609    

DOI:10.1002/(SICI)1096-8652(199612)53:4<228::AID-AJH3>3.0.CO;2-#

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1996

数据来源: WILEY

摘要:

AbstractThe value of menorrhagia as a predictor for mild bleeding disorders has been very little studied and the results are divergent. In the present study on 30 women with objectively verified menorrhagia, we found a significantly increased prevalence of von Willebrand's disease (20%). By keeping a strict sampling and laboratory routine, and by restricting sampling to cycle days 5–7, we also obtained a very low interindividual variation of von Willebrand factor and coagulation factor VIII. We conclude that menorrhagia is a valuable predictor for coagulation and platelet disorders, and that time of sampling is of importance. This should be considered in the investigation of menorrhagia, and can be a guideline in looking for mild bleeding disorders. © 1996 Wiley‐Liss,

ISSN:0361-8609    

DOI:10.1002/(SICI)1096-8652(199612)53:4<234::AID-AJH4>3.0.CO;2-Z

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1996

数据来源: WILEY

摘要:

AbstractPeripheral cytopenias are common in patients with agnogenic myeloid metaplasia (AMM). They are an important cause of morbidity and mortality, and their treatment is difficult. We report on 4 patients with AMM and severe cytopenia treated with danazol (400–600 mg/day). Three of them became independent of red blood cell (RBC) transfusion, while the other had a slight reduction in RBC requirement. In addition, correction of thrombocytopenia and disappearance of splenomegaly were observed in 1 and 2 patients, respectively. No side effects were observed. In our experience, danazol appears effective and safe in the subset of patients with AMM whose disease is mainly characterized by bone‐marrow failure. These data warrant further studies to evaluate this treatment and explore its mechanism of action. © 1996 Wiley‐Lis

ISSN:0361-8609    

DOI:10.1002/(SICI)1096-8652(199612)53:4<239::AID-AJH5>3.0.CO;2-Z

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1996

数据来源: WILEY

摘要:

AbstractWe investigated the influence of different buffers (Tris‐buffer and phosphate buffered saline (PBS)/Tween‐20 buffer) on anti‐prothrombin antibody (aPT) measurement by enzyme‐linked immunosorbent assay (ELISA), employing a γ‐ray‐irradiated plate. We found considerable discrepancies in aPT positivity between each buffer, and we suggest that the use of Tris‐buffer is not suitable for aPT measurement with a γ‐ray‐irradiated plate to measure aPT. ©

ISSN:0361-8609    

DOI:10.1002/(SICI)1096-8652(199612)53:4<242::AID-AJH6>3.0.CO;2-Y

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1996

数据来源: WILEY

ISSN:0361-8609    

DOI:10.1002/(SICI)1096-8652(199612)53:4<245::AID-AJH7>3.0.CO;2-Y

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1996

数据来源: WILEY

摘要:

AbstractGoa(DCor) is a low‐frequency antigen in the Rh system found on red cells lacking part of the D mosaic (category IVa). Anti‐Goahas not been previously reported to cause hemolytic transfusion reactions. A 27‐year‐old African American male with sickle‐cell disease, maintained on chronic transfusion, was noted to have dark plasma during an erythrocytapheresis, procedure, and the pretransfusion hemoglobin was noted to be 1 g/dl lower than 4 weeks before (with hyperbilirubinemia and a significantly increased LDH). Polyspecific direct antiglobulin test (DAT) was weakly positive (C3‐weak, IgG‐weak), and indirect antiglobulin tests (IATs) performed on the serum (pre‐ and posttransfusion reaction) and a red blood cell (RBC) eluate from the postreaction sample were negative. A segment from one of the four implicated units from the prior month's transfusion was strongly reactive at 37°C and using anti‐human globulin (AHG) when crossmatched with the postreaction serum and the eluate. The postreaction serum, screened with a panel of red cells positive for low‐prevalence antigens, reacted with three Go(a+) cells. The implicated unit was reactive with a previously identified anti‐Goaserum.

ISSN:0361-8609    

DOI:10.1002/(SICI)1096-8652(199612)53:4<248::AID-AJH8>3.0.CO;2-Y

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1996

数据来源: WILEY

摘要:

AbstractWe describe one relapsed case of plasmacytoma of mandibular bone. The organs of relapse were liver and bone marrow. At relapse, monoclonal gammopathy (IgG‐κ) was observed without suppression of IgA and IgM. By immunostaining, the plasma cells of both the original mandibular bone and liver were positive for the same cytoplasmic immunoglobulin light chain κ. The proliferative plasma cells in the bone marrow had the phenotype of CD38+, CD19+, and CD56‐by flow cytometry and showed the presence of the rearranged IgH gene by Southern blotting. In addition, the zone of the Ig class of the patient's serum was not so sharply defined by zone electrophoresis. These results suggest that the characteristics of plasma cells of plasmacytoma are different from those of multiple myeloma. © 1996 Wiley‐L

ISSN:0361-8609    

DOI:10.1002/(SICI)1096-8652(199612)53:4<251::AID-AJH9>3.0.CO;2-X

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1996

数据来源: WILEY

摘要:

AbstractThree adult patients with factitious acute sickle cell painful episodes are presented and the literature is reviewed. The prevalence of this disorder among patients with sickle cell disease in our program was found to be about 0.9%. The patients described to date were all young adults who demonstrated pathological lying (pseudologico fantastico) and most of them had an underlying authentic medical illness to which the feigned signs and symptoms of sickle cell disease were added, thus making the diagnosis more plausible. It is recommended that all patients who present themselves with the signs and symptoms of sickle cell painful episodes be carefully studied in order to confirm the diagnosis. © 1996 Wiley‐Liss, I

ISSN:0361-8609    

DOI:10.1002/(SICI)1096-8652(199612)53:4<254::AID-AJH10>3.0.CO;2-C

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1996

数据来源: WILEY