摘要:

AbstractThe goal of the present study was to search for criteria that allow one to distinguish between normal individuals and heterozygotes as well as compound heterozygotes for pyruvate kinase (PK) deficiency. As the residual activity of PK with heterozygotes was between 35% and 110% of the normal activity, it was necessary to find other methods to prove heterozygosity. The PK in the hemolysates of 23 patients suffering from PK deficiency, 36 paternal and maternal enzymes as well as the enzymes of five heterozygous and four normal siblings together with those of 20 normal individuals, were studied according to the recommendations of the International Committee for Standardization in Haematology. The following hematological and enzyme kinetic parameters can serve to identify heterozygotes for PK deficiency: 1) a slight reticulocytosis, 2) an up‐to‐twofold increase of the intracellular concentrations of glucose‐6‐phosphate in the erythrocyte, 3) a mixed cooperativity of the phosphoenolpyruvate (PEP)‐binding process of PK, 4) a decreased nucleotide specificity with guanosine diphosphate and uridine diphosphate, and 5) a lowered affinity for adenosine diphosphate. The most significant criterium found with all heterozygotes was a mixed cooperativity of the PEP‐binding process caused by the presence of a mixture of normal an

ISSN:0361-8609    

DOI:10.1002/ajh.2830310402

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

年代:1989

数据来源: WILEY

摘要:

AbstractSerum and red blood cell folate levels and serum B12concentration were determined by radioassay in 20 hyperthyroid patients and compared with values obtained when the same patients had been euthyroid for at least 4 months. In hyperthyroidism, the levels of serum and red blood cell folate were significantly (P<.01) higher than when euthyroidism was achieved. There was no significant change in serum B12concentration. Declines in serum and red blood cell folate levels between hyperthyroidism and euthyroidism occurred in 15 and 16 of the 20 patients, respectively. Although the explanation for the relative elevations of serum and red blood cell folate levels in hyperthyroid patients is unclear at present, our findings do not support the view that hyperthyroidism in man is associated with depletion of folate stores or subclinical deficiency of the vitamin.

ISSN:0361-8609    

DOI:10.1002/ajh.2830310403

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

年代:1989

数据来源: WILEY

摘要:

AbstractPlatelet activation at sites of enmeshed sickled red cells in the microcirculation may contribute to platelet plug formation and microinfarction in sickle cell anemia. To test this hypothesis platelets from 116 sickle cell anemia patients free of crisis, 32 patients with crisis, 16 convalescents within 1 week of crisis, and 180 normal controls were studied. Platelets store 90% of their ADP in dense secretory granules. During activation ADP is secreted and permanently lost from the cell. This leads to a decrease in cellular ADP concentration and a sharp rise in the ATP/ADP ratio. ATP and ADP were ethanol‐extracted from platelet‐rich plasma, measured in the luciferase‐luciferin assay and expressed in nmoles per 108cells. No adenine nucleotide differences were found in platelets from patients free of crisis compared with normal controls. The ADP concentration of platelets from patients in crisis was significantly lowered, indicating that in vivo platelet secretion of ADP had occurred. Total and released ADP was decreased from 2.69 to 1.66, and from 1.90 to 1.21 respectively, and the total ATP/ADP ratio was increased from 1.85 to 2.84 (P<0.001). ADP stores in platelets from convalescents were significantly different from sickle controls (P<0.001) but were less abnormal than ADP stores in platelets from crisis patients (P<0.01), indicating recovery. Total and released ADP was decreased to 1.97 and 1.31 respectively, and the ATP/ADP ratio was increased to 2.38. Platelets from patients in crisis were able to release their remaining granular ADP in response to thrombin as effectively as normal platelets. Thus significant platelet activation with ADP release occurs during acute sickle pain crisis. This might contribute to platelet plug formation and microvascular obstru

ISSN:0361-8609    

DOI:10.1002/ajh.2830310404

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

年代:1989

数据来源: WILEY

摘要:

AbstractNormal individuals have four AaL‐globin genes, two on each member of the chromosome 16 pair (αα/αα). The α‐thalassemia trait phenotype associated with deletions of two α‐genes can be either on the same chromosome, the cis type (αα/—), or on opposite chromosomes, the trans type (α‐/α‐). Traditionally, the observation on vitally stained smears of occasional cells containing “H” bodies has been used as an important diagnostic criterion for α‐thalassemia trait. These “H” bodies are thought to be precipitated β tetramers because of the presence of excess β‐globin chains. Our study in patients with various α‐genotypes indicates that normal subjects (αα/αα) and patients with silent α‐thalassemia trait (αα/α‐) generally have no “H” bodies. However, patients with the two‐gene deletion of the cis type α‐thalassemia (αα/—) show the occasional “H” body, and those with Hb “H” disease (α‐/—or αcs‐/—) show many such bodies. On the other hand, patients with two‐gene deletion of the trans type (α‐/α‐) do not show “H” bodies.The number of “H” bodies found does not appear to correlate directly with the degree of imbalance in α‐ and β‐chain production among the various α‐genotypes examined. The chemical nature of “H” bodies is discussed, and an alternative hypothesis that embryonic ζ chains expressed in

ISSN:0361-8609    

DOI:10.1002/ajh.2830310405

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

年代:1989

数据来源: WILEY

摘要:

AbstractSeven patients with a suspected mild bleeding disorder had consistently abnormal glass bead platelet retention. This was the only coagulation abnormality detected in six of these patients; the seventh individual showed evidence of mild von Willebrand disease. Nevertheless, platelets from the six that were studied behaved in a similar fashion in the two‐stage platelet retention assay of McPherson and Zucker. This indicated that their platelets were defective in maintaining repetitive platelet‐platelet interaction in the second phase of this assay but functioned normally in the first phase. Their one‐stage platelet retention defects consistently normalized following the infusion of 1‐deamino‐8‐D‐arginine‐vasopressin (d‐DAVP). The duration of response was variable and easily defined by monitoring this parameter. These findings suggest platelet retention analysis may be useful in identifying mild bleeding disorder patients, who may be

ISSN:0361-8609    

DOI:10.1002/ajh.2830310406

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

年代:1989

数据来源: WILEY

摘要:

AbstractGene probes for insulin receptor (INSR) and c‐ets‐1 were hybridized to metaphase cells from three leukemic patients with the t(11;19)(q23;p13) translocation. Patients 1 and 2 were diagnosed as acute lymphocytic leukemia (ALL) (L2), and patient 3, as acute myelogenous leukemia (AML) (M4). The c‐ets‐1 gene was demonstrated to have translocated from chromosome 11 to the short arm of the rearranged chromosome 19 (19p+) in all three patients. On the other hand, the INSR gene translocated from chromosome 19 to the rearranged chromosome 11 (11q‐) in the AML case, but remained on the rearranged chromosome 19 in the two ALL cases. Thus, the breakpoints of chromosome 19 are different among the patients studied, proximal to the INSR gene locus in the AML case and distal in the two ALL cases. Consequently, the c‐ets‐1 gene and the INSR gene remain separated in the AML case, whereas they become close to each other in the two ALL cases. Rearrangement of these two genes was studied in the two ALL patients, with no positive data being obtained. The results suggest that there may be heterogeneity in the breakpoints of chromosome 19 among the t(11;19)‐associated

ISSN:0361-8609    

DOI:10.1002/ajh.2830310407

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

年代:1989

数据来源: WILEY

摘要:

AbstractHuman myeloma cells were highly purified from bone marrow aspirates of 21 patients with advanced immunoglobulin G (IgG)‐type multiple myeloma. B‐cell stimulatory factor 2 (BSF‐2)/interleukin‐6 (IL‐6) was originally characterized as a cytokine that can enhance immunoglobulin secretion from activated normal B cells and increase the expression of secretory‐type Ig mRNA in these B cells, but that does not augment proliferation of activated B cells. However, recombinant IL‐6 (rIL‐6) could not enhance M‐protein (IgG) secretion in freshly isolated myeloma cells in vitro but could augment proliferation of myeloma cells, although myeloma cells constitutively expressed IL‐6 receptors. Furthermore, expression of secretory‐type IgG (γ‐chain) mRNA in myeloma cells was not changed in the presence of IL‐6. These results show that IL‐6 is not an enhancing factor in Ig secretion from myeloma cells, and thus signal transduction through IL‐6 in myeloma cells may be altered a

ISSN:0361-8609    

DOI:10.1002/ajh.2830310408

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

年代:1989

数据来源: WILEY

摘要:

AbstractTo determine whether increased numbers of circulating endothelial cells, a possible indicator of endothelial injury, are present in subjects with sickle cell disease, we measured circulating endothelial cells in 30 normal subjects and in 23 subjects with sickle cell anemia. Mean circulating endothelial cells were significantly higher (P<0.025) in the sickle cell subjects than in the normal subjects. Circulating endothelial cells were significantly higher than normal in 10 sickle cell subjects studied during painful crisis (P<0.01) but not in 13 sickle cell subjects studied while in the steady state. To control for the known stimulatory effect of cigarette smoking on circulating endothelial cells, we analyzed the results for smokers and nonsmokers separately. Mean circulating endothelial cells were not significantly higher in sickle cell subjects who smoked (n = 10) than in normal subjects who smoked (n = 8), but were significantly higher (P<0.05) in sickle cell nonsmokers (n = 13) than in normal nonsmokers (n = 22). Among nonsmoking sickle cell subjects, mean circulating endothelial cells were significantly higher than normal (P<0.01) during painful crisis (n = 7), but not in the steady state (n = 6). We conclude that circulating endothelial cells are significantly increased in sickle cell crisis, and may indicate the occurrence of acute endothelial injury during episodes of microvascular occlusion.

ISSN:0361-8609    

DOI:10.1002/ajh.2830310409

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

年代:1989

数据来源: WILEY

摘要:

AbstractAcute promyelocytic leukemia (APL) is a morphologically distinct subtype of acute non‐lymphocytic leukemia (ANLL) characterized cytogenetically by the presence of a trans‐location between chromosomes 15 and 17 (t(15;17)). In contrast to other subtypes of ANLL, morphologic examination of the bone marrow in the early postinduction period fails to identify patients adequately who have a high likelihood of entering remission. Remission has frequently been achieved in APL despite the failure to attain marrow aplasia or eliminate dysplastic progranulocytes after initial induction chemotherapy. In a patient with APL who failed to achieve cytoreduction after a single course of induction chemotherapy, serial cytogenetic studies demonstrated persistence of metaphases with the t(15;17) up to 23 days after induction. However, complete morphologic and cytogenetic remission was subsequently attained by day 29 without further therapy. In APL remission may occur even when induction therapy fails to achieve marrow aplasia or to eradicate replicative cells with abnormal karyotype promptly. In order to avoid excessive exposure to toxic therapy, new strategies may be necessary to identify, early in treatment, patients with APL who will require only one course of induction chemotherapy to enter remission successfu

ISSN:0361-8609    

DOI:10.1002/ajh.2830310410

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

年代:1989

数据来源: WILEY

摘要:

AbstractA 670 g premature infant is described in whom an intracardiac thrombus was documented. This thrombus formation probably resulted as a complication of an indwelling right atrial catheter. Thrombolytic therapy with urokinase was instituted, resulting in total and rapid dissolution. No hemorrhagic complications resulted. We believe that this particular thrombolytic therapy is safe and effective and should be considered when facing this particular complication.

ISSN:0361-8609    

DOI:10.1002/ajh.2830310411

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

年代:1989

数据来源: WILEY