bluuebunny/crossref_metadata_2025_split huggingface dataset:
Detection of immunoglobulin gene rearrangement in acute and chronic lymphoid leukemias of B‐cell lineage by polymerase chain reaction gene amplification
Authors: Liang Raymond , Chan Vivian , Chan T. K. , Wong Thomas , Chiu Edmond , Todd David 
Published: February 2007

AbstractPolymerase chain reaction (PCR) was used to amplify the DNA fragments of the complementarity determining region 3 of the immunoglobulin (Ig) gene heavy chain from the leukemic cell specimens of patients with acute and chronic lymphoid leukemias of B‐cell lineage. Two different pairs of primers were tested. Fourteen of the 17 (82%) cases of acute lymphoblastic leukemia (ALL), and all 15 cases (100%) of B‐cell chronic lymphocytic leukemia, who had rearrangement of the Ig gene heavy chain by Southern analysis, were positive by PCR with either one or both pairs of primers. This technique was able to detect leukemic cells at the level of 0.1%. Applying it to study the remission marrow specimens following induction chemotherapy was more useful than morphology alone in predicting early relapse of the leukemia.
Analysis of N‐ras gene mutations in acute myeloid leukemia by allele specific restriction analysis
Authors: Todd A. V. , Ireland C. M. , Radloff T. J. , Kronenberg H. , Iland H. J. 
Published: February 2007

AbstractN‐ras gene activation occurs via single base substitutions in codons 12, 13, and 61. We have developed a rapid screening method, termed allele specific restriction analysis (ASRA), for detection of N‐ras mutations at these three critical codons in acute myeloid leukemia (AML). Patient DNA samples are amplified by the polymerase chain reaction (PCR) by using primers that induce restriction sites in normal but not mutant N‐ras alleles. We have used ASRA to identify 5 point mutations in four out of 19 patients at initial presentation of de novo AML. Three patients had one mutation at codon 12, 13, or 61 respectively, while a fourth patient had concurrent mutations at codons 12 and 13. N‐ras mutations were more common in patients over 65 years of age (P < 0.04), but did not correlate with FAB classification, attainment of complete remission, disease free survival, or overall survival. ASRA can also be used as the first step in a more sensitive approach to the detection of ras mutations. When ASRA was combined with allele specific oligonucleotide (ASO) hybridization the sensitivity and specificity of these assays were increased. This allowed identification of additional low level mutations in two patients. The data presented here constitute the first complete analysis of N‐ras mutations in leukemia by ASRA and include the first identification of three concurrent N‐ras mutations in a single leukemic patient. By facilitating sensitive sequential studies, ASRA should contribute to our understanding of the role of N‐ras mutations in leukemogenesis.
Granulocytic sarcoma of the ovary in patients with acute myelogenous leukemia
Authors: Yamamoto Kou , Akiyama Hideki , Maruyama Tamotsu , Sakamaki Hisashi , Onozawa Yasusuke , Kawaguchi Kenji 
Published: February 2007

AbstractTwo cases of granulocytic sarcoma of the ovary found at the time of relapse of acute myelogenous leukemia (AML) are presented. Almost 5 years after the initial diagnosis of AML, both cases presented ovarian tumors which were discovered to be myeloblastoma of the ovary on laparotomy in one case and at the time of autopsy in the other. Evidence of hematological relapse followed the presentation of the ovarian tumor within a month. Both patients were treated with surgery and/or chemotherapy.
Increased levels of tissue plasminogen activator with a low plasminogen activator inhibitor‐1 in a patient with postoperative bleeding
Authors: Stankiewicz Andrzej J. , Crowley James P. , Steiner Manfred 
Published: February 2007

AbstractRecurrent postoperative bleeding in a previously healthy man with a moderate prolongation of PT and PTT which did not correct with vigorous fresh‐frozen plasma infusion was identified as a unique abnormality of the fibrinolytic system: a combination of an excess of tissue plasminogen activator (t‐PA) at 300% of normal activity accompanied by a concurrent deficiency of plasminogen activator inhibitor‐1 activity (PAI‐1) of 10‐20% of normal activity. This observation underscores the potentially important regulatory role of PAI‐1 in the degree to which clinical manifestations of bleeding tendencies may occur in patients in whom an excess amount of t‐PA is expressed.
Successful management of Ph chromosome chronic myelogenous leukemia with leukapheresis during pregnancy
Authors: Bazarbashi M. Shouki , Smith Mitchell R. , Karanes Chatchada , Zielinski Irene , Bishop Carter R. 
Published: February 2007

AbstractWe report the successful management of a 25 year‐old woman diagnosed in the second trimester of her pregnancy with chronic myelogenous leukemia (CML). She was treated with leukapheresis until her delivery at 38 weeks of gestation. The procedure was without significant adverse effects on the patient or the fetus. Following induced vaginal delivery, the patient underwent allogeneic bone marrow transplantation from her HLA‐matched brother and is presently disease free 13 months following her transplant.
Immunologic thrombocytopenia followed by thrombotic thrombocytopenic purpura in two HIV1 patients
Authors: Routy Jean‐Pierre , Beaulieu Raymond , Monte Marc , Saint‐Louis Jean , Sauvageau Guy , Toma Emil 
Published: February 2007

AbstractTwo homosexual HIV1‐positive male patients with thrombotic thrombopenic purpura (TTP) were found to have past history of immune thrombocytopenia (ITP). The first patient had ITP 10 months prior to TTP and was successfully treated by splenectomy. The second patient had ITP 32 months before TTP. No specific treatment was given for his asymptomatic ITP. Association of HIV infection to TTP seems to be frequent. These two types of purpura have different pathogenic mechanisms but share a common altered immune response to antigenic challenge. The occurrence of ITP and TTP in HIV‐positive patients may lead to errors in diagnosis and therapy.
Heterozygous β‐thalassemia: Relationship between the hematological phenotype and the type of β‐thalassemia mutation
Authors: Rosatelli C. , Leoni G. B. , Tuveri T. , Scalas M. T. , Mosca A. , Galanello R. , Gasperini D. , Cao A. 
Published: February 2007

AbstractIn this study we have correlated the severity of the hematological features to the type of the β‐thalassemia mutation [codon 39 (C→T), IVS‐I nt 110 (G→A), IVS‐I nt 1 (G→A), IVS‐I nt 6 (T→C), IVS‐II nt 745 (C→G), −87 (C→G) and β6 (‐1bp)], in a group of β‐thalassemia heterozygotes of Italian descent in whom we excluded the presence of iron deficiency or deletion α‐thalassemia. The β‐thalassemia mutation was defined by dot blot analysis on amplified DNA with allelic specific oligonucleotide probes. We found that (a) heterozygotes for β+ IVS‐I nt 6 and β+ ‐ 87 mutations produce larger and better hemoglobinized red blood cells, and )b) heterozygotes for β+IVS‐I nt 6 and β+IVS‐I nt 110 mutations have a less marked increase of Hb A2 levels as compared to heterozygotes for the other mutations investigated. These findings indicate that milder β‐thalassemia mutations such as the β+IVS‐I nt 6 and β+ ‐ 87, express also in the heterozygous state a milder phenotype as compared to β°+‐thalassemia or severe β+ thalassemia (β+IVS‐I, nt 110. The Hb A2 levels, on the other hand, were not related to the severity of the mutation because of less marked increase was found in a mild (β+IVS‐I nt 6) as well in a severe (β+IVS‐I nt 110) mutation. From the practical point of view these findings should be adequately considered in carrier screening and genetic counselling.
Uptake of transferrin‐bound and nontransferrin‐bound iron by reticulocytes from the belgrade laboratory rat: Comparison with wistar rat transferrin and reticulocytes
Authors: Farcich Elizabeth A. , Morgan Evan H. 
Published: February 2007

AbstractThe mechanism underlying the impaired uptake of iron from transferrin by reticulocytes from the Belgrade laboratory rat was investigated using 125I‐ and 59Fe‐labeled transferrin isolated from homozygous Belgrade rats and from Wistar rats, nontransferrin‐bound Fe(II) in an isotonic sucrose solution, and reticulocytes from Belgrade and Wistar rats. The Belgrade rat transferrin had the same molecular weight and net charge as Wistar rat transferrin, donated iron equally well to both types of reticulocytes, and competed equally for transferrin binding sites on the cells. Hence, the defect in iron uptake by Belgrade rat reticulocytes could not be attributed to an abnormality of the transferrin molecule. The rate of uptake of Fe(II) from sucrose into the cytosolic and stromal fractions of Belgrade rat reticulocytes was only about 35% as great as that by Wistar rat reticulocytes. With both types of cells, the uptake process was saturable, suggesting the presence of a carriermediated process. It was therefore concluded that the defect in iron uptake by Belgrade rat erythroid cells is probably the consequence of a deficiency in a membrane carrier for iron.
Physiologic and rheologic effects of the antisickling agent ethacrynic acid and its N‐butylated derivative on normal and sickle erythrocytes
Authors: Orringer Eugene P. , Blythe David S. , Whitney James A. , Brockenbrough Scott , Abraham Donald J. 
Published: February 2007

AbstractEthacrynic acid, a loop diuretic, has been shown to inhibit hemoglobin S polymerization. Until now, however, most studies were performed using purified solutions of hemoglobin S. The experiments reported here were designed to examine the effects of ethacrynic acid and its n‐butryic acid derivative on the rheological and physiological properties of intact red blood cells. Using net and unidirectional flux measurements, both agents were shown to cause ion and water loss from normal and sickle erythrocytes. Since cell shrinkage adversely influences red cell rheology, it is unlikely that this class of compounds, despite its ability to inhibit hemoglobin S polymerization, will prove useful in the treatment of sickle cell disease.
Increased expression of natural‐killer‐associated and activation antigens in multiple myeloma
Authors: Gonźlez M. , San Miguel J. F. , Gascon A. , Moro M‐J. , Hernandez J. M. , Ortega F. , Jimenez R. , Guerras L. , Romero M. , Casanova F. , Sanz M. A. , Portero J. A. , Orfao A. 
Published: February 2007

AbstractThe expression of both natural‐killer (NK)‐associated and activation antigens was studied by flow cytometry in the peripheral blood of 47 untreated multiple myeloma (MM) patients. A significant increase in both absolute and relative numbers of CD57 positive cells as well as in the proportion of CD16 and CD11b cells was observed in patients with MM, specially in those in early stages of the disease (clinical stages I and II), suggesting a possible surveillance mechanism in response to an emerging malignant clone. Additional double stainings showed that strong CD16+ NK cells coexpress the CD56, CD11b, and CD2 antigens, while they lacked CD3, CD5, and WT31 antigens. Moreover, the previously reported increase in CD8 cells present in MM would be mainly due to a subset of CD8 cells that coexpress the CD57 Ags. The expression of activation antigens, especially CD38, was increased in peripheral blood lymphocytes of MM patients, the differences reaching statistical significance both in absolute and relative numbers in those cases with high numbers of CD16 NK cells and thus suggesting that these cells are functionally activated. These results reveal the existence of an increase in NK and activated cells in the peripheral blood of myeloma patients that may reflect a host's immunological mechanism in an attempt to modulate tumor cell growth.
A female hemophilia a combined with hereditary coagulation factor XII deficiency: A case report
Authors: Matsushita Tadashi , Takamatsu Junki , Kagami Kazuo , Takahashi Isao , Sugiura Isamu , Hamaguchi Motohiro , Kamiya Tadashi , Saito Hidehiko 
Published: February 2007

AbstractA 2‐year‐old Japanese girl with easy bruising and arthropathy was demonstrated to have severe hemophilia A (Factor VIII activity: <0.01 U/ml). She had normal 46XX karyotype. Her brother also had hemophilia A, and her mother and grandmother seem to be hemophiliac carriers. Additionally, activated partial thromboplastin time (APTT) of the patient was disproportionately prolonged and there were reduced levels of coagulation factor XII in the patients and members of the maternal trait which are compatible with heterozygous factor XII deficiency. Her father had both normal factor VIII and factor XII levels. Southern blotting analysis of genomic DNA from the propositus and family members with factor VIII and factor XII DNA probes revealed no gross alterations. This patient represents a female hemophilia A combined with heterozygous factor XII deficiency. Nonrandom inactivation of a normal X‐chromosome (extreme lyonization) may be the basis for the expression of hemophilia A in this female patient.
Studies on the in vitro and in vivo expression of a dysfunctional α‐ globin gene
Authors: Safaya Surinder , Trauber David R. , Rieder Ronald F. 
Published: February 2007

AbstractIn a black family with members having α‐thalassemia and hemoglobin H (HbH) disease, a deletion of an AG dinucleotide at the 3′ end of exon 1 near the junction with intron 1 was shown previously to produce a dysfunctional α‐thalassemia gene with a reading frame‐shift and a nonsense codon (Safaya S, Rieder RF: J Biol Chem 263:4328‐4332, 1988). We have found that the same mutation is responsible for α‐thalassemia and HbH disease in a second unrelated black family (Bellevue R, Dosik H, Rieder RF: Br J Haematol 41:193‐202, 1979). Despite the loss of two nucleotides from the consensus sequence at the 5′ splice donor site of intron 1, studies employing an in vitro plasmid‐based expression system indicated that the mutant α‐globin mRNA was spliced normally and expressed in amounts equal to normal α‐globin mRNA in COS‐7 cells. The correct processing of the mRNA in these studies is probably due to the presence of a tandem repeat of the affected AG dinucleotide. However, in reticulocytes from subjects bearing the mutant gene, we were unable to detect any of the abnormal mRNA. These findings suggest that there is accelerated post‐transcriptional loss of mRNA bearing a premature terminator codon.
A radioimmune microfilter plate assay for the detection of anti‐granulocyte antibodies
Authors: Braman Ann Marie , Schwartz Kenneth A. 
Published: February 2007

AbstractA radioimmune assay (RIA) for IgG anti‐granulocyte antibodies (AGA) was developed which utilized 96 well microfilter plates, required less than 50 μI plasma, and yielded reproducible autologous determinations on patients with absolute granulocyte counts as low as 300 cells/μI. Granulocytes were isolated by a single density ficoll‐hypaque gradient procedure with red blood cell (RBC) removal by lysis and washing. Anti‐granulocyte IgG coating the cells was detected by the addition of 125I labeled anti‐human IgG. Six patients with autoimmune granulocytopenia and three multiply transfused patients with febrile transfusion reactions believed to be secondary to allogeneic granulocyte antibodies had increased granulocyte IgG. Plasma containing anti‐a and/or anti‐B titers greater than or equal to 512 gave positive results when tested against ABO incompatible granulocytes. This technique was capable of detecting antibodies which were reactive in granulocyte agglutination and immunofluorescence tests as demonstrated with known anti‐NA‐1, anti‐NB‐1, and anti‐Mart sera. Comparison with granulocyte agglutination test (GAT) using clinical criteria for immune granulocytopenia demonstrated concordance with 19 negative samples and 8 positive samples, 1 false negative and 3 false positives were observed using the agglutination method. The multimeric and monomeric IgG fractions of G200 purified Cohn Fraction II were nonreactive by both RIA and GAT methods. However, granulocyte activation by phorbol myristate acetate (PMA) produced false positives in 5 out of 5 cases by GAT but 0 out of 4 by RIA. This RIA assay is not effected by nonimmune granulocyte activation and is more reproducible when compared to existing techniques.
Hypercalcemia in idiopathic myelofibrosis: Modulation of calcium and collagen homeostasis by 1,25‐dihydroxyvitamin D3
Authors: Voss A. , Schmidt K. , Hasselbalch H. , Junker P. 
Published: February 2007

AbstractA case of idiopathic myelofibrosis (IMF) presenting with hypercalcemia and hypercalcitriolemia is reported. It is proposed that ectopic production of the active vitamin D metabolite related to ongoing clonal expansion in the bone marrow accounts for the hypercalcemic state. Consistently low levels of circulating type I procollagen propeptide (PICP) and lack of progression of the bone marrow fibrosis during almost 6 months of follow‐up point to an in vivo inhibition of type I collagen synthesis by 1,25‐dihydroxyvitamin D3.
Four‐agent induction/consolidation therapy for childhood acute lymphoblastic leukemia: An Indian experience
Authors: Advani S. H. , Lyer R. S. , Pai S. K. , Gopal R. , Saikia T. K. , Nair C. N. , Kurkure P. A. , Nadkarni K. S. , Pai V. R. 
Published: February 2007

AbstractDuring 1984‐1986, a total of 128 children with acute lymphoblastic leukemia (ALL) were treated with an induction‐consolidation regimen consisting of doxorubicin, vincristine, cytosine‐arabinoside, and prednisolone. One hundred two (80%) patients belonged to high‐risk group. The complete remission rate for all the patients was 91%. The event‐free survival at 5 years was 32.0% ± 23%. On multivariate analysis the event‐free survival and disease‐free survival was not altered by age, sex, WBC count, platelet count, LDH level, and surface phenotype.Infection due to prolonged marrow aplasia was a common complication, leading to mortality of 8 patients during induction and 33 patients during first remission. The relapse rate has been 36% (42 patients). The predominance of high‐risk ALL in the Indian population underscores the need for intensive therapy. Improved supportive care during induction and remission seems essential to decrease therapy‐related mortality, leading to improved survival.
Binding and suppressive activity of human recombinant ferritins on erythroid cells
Authors: Fargion Silvia , Cappellini Maria Domenica , Fracanzani Anna Ludovica , de Feo Tullia Maria , Levi Sonia , Arosio Paolo , Fiorelli Gemino 
Published: February 2007

AbstractWe studied the relation between ferritin cellular binding and suppressive activity of recombinant H‐ and L‐ferritin on human erythroid cells at different proliferation/differentiation phases. L‐ferritin failed to show any suppressive activity or detectable binding to erythroblasts at any stage of maturation. In contrast, H‐ferritin demonstrated binding to erythroblasts derived from peripheral BFU‐E cells which increased steadily between 7‐14 days of culture up to 15,000 molecules per cell. Reticulocytes and erythrocytes failed to bind either L‐ or H‐ferritin. H‐ferritin suppressed BFU‐E colony formation and reduced K562 cell proliferation at nanomolar concentrations. This suggests that the expression of H‐ferritin binding sites is modulated by cellular proliferation and differentiation, that cells expressing H‐ferritin binding sites are sensitive to ferritin suppressive activity and that a causal relation exists between ferritin cellular binding and suppressive activity.
Platelet regulatory prostanoids and platelet release products in sickle cell disease
Authors: Longenecker Gesina L. , Beyers Barbara J. , Mankad Vipul N. 
Published: February 2007

AbstractChanges in platelet function have been observed for sickle cell disease (SCO). Levels of the arachidonic acid metabolites, thromboxane A2 (released by stimulated platelets) and prostacyclin (released from vascular endothelium), which stimulate and inhibit platelets, respectively, have been implicated in overall regulation of platelet function. Circulating basal levels of thromboxane and prostacyclin were determined in 1) a group of SCO volunteers (n = 21; at half‐yearly steady state intervals and also at 24 hr, 72 hr, and 7 days after start of pain crisis) and 2) an age‐, sex‐, and race‐matched control group (n = 18; single determinations). Circulating levels of β‐thromboglobulin (β‐TG), as well as throm‐bin (clotting)‐stimutated platelet release of thromboxane, were also determined. Statistically significant decreases were found for prostacyclin, basal thromboxane, and thrombin‐induced (maximal) thromboxane (alone or per platelet), for steady state SCD vs. normal controls. In addition, significant increases in maximal thromboxane were identified in crises (24, 72 hr) compared with steady state. Crisis β‐TG (24 hr) was significantly elevated compared with controls or steady state SCD. The ratio of basal thromboxane to prostacyclin was increased in crisis, but not significantly. Crisis frequency may correlate in part with changes in platelet function: steady state maximal thromboxane and released thromboxane per platelet were significantly lower in SCD volunteers who had crises during the study vs. those who did not (equivalent study time). The data support altered platelet function in SCD, possibly refractoriness (desensitization), manifest as decreased thromboxane release, to thrombin and/or other stimuli: alternate explanations are discussed. © 1992 Wiley‐Liss, Inc.
Concurrent protein C deficiency and lupus anticoagulants
Authors: Harrison Robert L. , Alperin Jack B. 
Published: February 2007

AbstractAn inherited deficiency of protein C, a recognized hypercoagulable state, may cause a clinically significant deep venous thrombosis. Only some persons with a deficiency of protein C experience thrombosis, and almost always the thrombotic event occurs in the venous circulation. Warfarin‐induced skin necrosis, a rare event observed in some patients soon after treatment with warfarin is begun, is believed to be another manifestation of this deficiency. We describe a young woman whose basal functional and antigenic levels of protein C were about 45% and who experienced both deep venous thrombosis and warfarin‐induced skin necrosis in a clinically severe course. Evidence for lupus anticoagulants was present, with prolonged activated partial thromboplastin time that was corrected when lysed platelets were added, prolonged Russell's viper venom time, anticardiolipin antibodies, and other laboratory evidence. Lupus anticoagulants are associated also with a significant incidence of thrombosis, including arterial thrombosis, and this patient developed concurrently arterial thrombosis. The combined effects of protein C deficiency and lupus anticoagulants, exacerbated by other potentially thrombogenic conditions, are believed responsible for the severe thrombotic events experienced by this patient. © 1992 Wiley‐Liss, Inc.
Abnormalities in immune regulation precede the development of multiple myeloma
Authors: Paglieroni Teresa , Caggiano Vincent , Mackenzie Malcolm 
Published: February 2007

AbstractImmunosuppression of immunoglobulin synthesis seen in patients with multiple myeloma is in part due to immunosuppressive CD5 positive B cells. In a 13 year longitudinal study of an IgA‐deficient blood donor who developed multiple myeloma, the presence of immunosuppressive CD5 positive B cells and T cells preceded the diagnosis of overt multiple myeloma and the appearance of immunosuppressive monocytes. These data argue that certain immune defects may be involved in the development of myeloma and are not simply a consequence of overt malignancy. © 1992 Wiley‐Liss, Inc.
Muir‐Torre syndrome in patients with hematologic malignancies
Authors: Cohen Philip R. 
Published: February 2007

AbstractThe Muir‐Torre syndrome (MTS) is defined as the concurrent or sequential discovery of at least one sebaceous gland tumor and a minimum of one internal malignancy. A man with Hodgkin's lymphoma who subsequently developed an ocular sebaceous carcinoma in situ is described and the world literature of patients with the MTS and hematologic malignancies is reviewed. © 1992 Wiley‐Liss, Inc.