bluuebunny/crossref_metadata_2025_split huggingface dataset:
βS gene in sicily is in linkage disequilibrium with the benin haplotype: Implications for gene flow
Authors: Ragusa Angela , Lombardo Mario , Sortino Grazia , Lombardo Turi , Nagel Ronald L. , Labie Dominique 
Published: February 2007

AbstractHemoglobin β‐like gene cluster haplotypes defined by restriction enzyme polymorphic sites are useful in determining the origin of the βS gene found in several human populations. We present here evidence that the βS gene found among Sicilians is associated with the same haplotype observed among sickle cell anemia patients from Central West Africa. In addition, this haplotype is either nonexistent or very rare among normal Sicilian individuals. We conclude that the βS gene was introduced to Sicily from North Africa and that the gene flow originated in Central West Africa and traveled north through historically well‐defined trans‐Saharan commercial routes.
Adverse reactions to trimethoprim‐sulfamethoxazole in hemophiliacs
Authors: Nahum Kenneth , Saidi Parvin , Kim Hugh C. , Karp George I. 
Published: February 2007

AbstractAdverse reactions to trimethoprim‐sulfamethoxazole are very prevalent in patients with acquired immunodeficiency syndrome (AIDS). Recently we have observed severe toxicities associated with trimethoprim‐sulfamethoxazole in three hemophiliacs, a group known to be at risk for developing AIDS. At the time of these reactions to the antibiotic, none of the patients had yet manifested any stigmata of AIDS per se. We advise caution in the use of trimethoprim‐sulfamethoxazole in hemophiliacs and other patients at high risk for the development of AIDS.
Prognostic factors in chronic myelodysplastic syndromes: A multivariate analysis in 107 cases
Authors: García Sonia , Sanz Miguel A. , Amigo Victoria , Colomina Pedro , Carrera M. Dolores , Lorenzo J. Ignacio , Sanz Guillermo F. 
Published: February 2007

AbstractA retrospective multivariate analysis of 37 clinical, biochemical, and hematological data was performed in 107 cases of primary myelodisplastic syndromes (MDS) in order to recognize their prognostic significance. The most important individual variables, isolated in a previous univariate analysis, were placed in a multiple regression modeling procedure to identify major significant prognostic factors. Multivariate analysis tends to identify prognostic variables containing significant independent predictive information. Characteristics were examined on both continuous and binary bases. The FAB classification was the first parameter entered in regression equations on both models, followed by platelet count, hemoglobin level, and circulating erythroblasts in the binary model, and by hemoglobin level, systemic symptoms, platelet count, age, and dyserythropoiesis in the continuous model. Our analysis confirms FAB classification as the main prognostic factor in MDS, supports the previously noted predictive value of platelet count, hemoglobin level, and age, and recognises the importance of circulating erythroblasts, systemic symptoms, and dyserythropoiesis as prognostic characteristics in MDS.
Clonal trisomy 8 is associated with myeloid phenotype rather than the neoplastic transformation in acute leukemia
Authors: Cassano William F. , Hintz Marilyn S. 
Published: February 2007

AbstractOur studies of an acute leukemia with a clonal t(1;11) marker have demonstrated a conversion from pre‐B cell to myelomonocytic phenotype associated with the acquisition of trisomy 8. This finding suggests that trisomy 8, a frequent clonal abnormality in acute myeloid leukemias, may be associated with the myeloid phenotype rather than the neoplastic transformation. A permanent myelomonocytic cell line, designated UF‐SK1, has been established from leukemic cells with a 47,XX, + 8,t(1;11) (p31;q25) karyotype and shown to have myelomonocytic characteristics, including phorbol ester‐induced differentiation to macrophages. This new cell line will be a valuable tool in the study of leukemogenesis and lineage commitment.
Possible cytogenetic distinction between lymphoid and myeloid blast crisis in chronic granulocytic leukemia
Authors: Diez‐Martin Jose L. , Dewald Gordon W. , Pierre Robert V. 
Published: February 2007

AbstractThis study consists of 25 patients with chronic granulocytic leukemia in blast crisis (BC) or with acute leukemia who had a Ph1 chromosome and one or more other chromosome abnormalities and who were investigated by cytochemistry and immunocytochemistry techniques to determine whether the predominant blasts were myeloid or lymphoid. The disorder was myeloid in 15 patients, lymphoid in 8, and mixed in 2. Among the 15 patients with myeloid disorders, 13 (86.6%) had an additional Ph1 chromosome, i(17q), +8 +19, or some combination of these abnormalities. None of the eight patients with a lymphoid disorder had +8, +19, or i(17q), but one had an additional Ph1 chromosome. Among the eight patients with lymphoid disorders, two had structural abnormalities of chromosome 7 and two were monosomy 7. None of the patients with myeloid disease had a structurally abnormal chromosome 7, but one was monosomy 7. Our findings suggest that the number of chromosomes in an abnormal clone may be unreliable for distinguishing between lymphoid and myeloid BC. Most patients with myeloid disease had only abnormal metaphases, whereas many patients with lymphoid disorders had both normal and abnormal metaphases. This finding may partially explain why many patients with lymphoid BC respond better to treatment than do those with myeloid BC.
Thrombotic thrombocytopenic purpura in human immunodeficiency (HIV)‐seropositive males
Authors: Meisenberg Barry R. , Robinson Warren L. , Mosley Coleman A. , Duke Mark S. , Rabetoy Gary M. , Kosty Michael P. 
Published: February 2007

AbstractTwo male patients with thrombotic thrombocytopenic purpura (TTP) were found to have antibodies to the human immunodeficiency virus (HIV). In one patient, platelet‐associated antibody levels were measured serially and were found to be initially elevated, but the levels decreased with initiation of successful therapy. The simultaneous occurrence of these two conditions in two of three patients admitted for TTP within the previous 2 years at this institution suggests an association between the two diseases. The precise nature of this association remains speculative inasmuch as the pathogenesis of TTP remains uncertain.
Elevated erythrocyte adenosine deaminase activity in a patient with primary acquired sideroblastic anemia
Authors: Kanno Hitoshi , Fujii Hisaichi , Tani Kenzaburo , Morisaki Takayuki , Takahashi Keisuke , Horiuchi Naomi , Kizaki Masahiro , Ogawa Tetsuhei , Miwa Shiro 
Published: February 2007

AbstractWe report a case of primary acquired sideroblastic anemia (PASA) associated with elevated erythrocyte adenosine deaminase (ADA) activity. The patient was an 85‐year‐old Japanese male. Analysis of the peripheral blood revealed pancytopenia, and the bone marrow findings showed marked ringed sideroblasts and chromosomal deletion (46XY, 11q‐). The erythrocyte ADA activity was 17 times higher than that of normal control, the leukocyte ADA activity was within the normal range, and the plasma ADA activity was 2 times higher than the normal mean. The adenine nucleotides in the patient's erythrocytes were within normal range. According to starch gel electrophoresis, ADA isozyme of the patient was ADA 1. Western blotting showed an increased amount of ADA protein in the patient's erythrocytes. Southern blotting revealed no gene amplification or large structural change. Dot blot analysis of the reticulocyte mRNA showed no increase in the amount of ADA mRNA in the patient's reticulocytes compared with those of reticulocyte‐rich controls. We considered that the mechanism of elevated ADA activity in this acquired defect was similar to that found in hereditary hemolytic anemia associated with ADA overproduction.
Leukocytosis due to adrenal metastases from malignant melanoma: Reversal after bilateral adrenalectomy with long‐term survival
Authors: Carey Robert W. , Kunz Victoria S. 
Published: February 2007

AbstractLeukocytosis has been noted in association with many non‐hematologic malignancies in the absence of concurrent infection or metastatic involvement of bone marrow. We report a case of sustained, neutrophilic leukocytosis in a patient with disseminated malignant melanoma which reversed after bilateral adrenalectomy for adrenal metastases.
The first report of familial adult T‐cell leukemia lymphoma in the United States
Authors: Denic Srdjan , Abramson Jonathan , Anandakrishnan Ravi , Krishnamurthy Muthuswamy , Dosik Harvey 
Published: February 2007

AbstractTwo patients, a daughter and her father, developed the acute type of adult T‐cell leukemia/lymphoma (ATLL) within a 3‐month period. Antibodies against HTLV‐I have been found in both wives of the father. The second wife acquired the infection from her husband within 3 years of marriage. The patients described represent the first cases of familial ATLL in the United States. ATLL continues to be frequently misdiagnosed in the United States. A positive family history consistent with this disease in a patient with a lymphoid malignancy may be a helpful clue for earlier diagnosis.
Hypereosinophilic syndrome with multiple organ dysfunction treated by allogeneic bone marrow transplantation
Authors: Archimbaud Eric , Guyotat Denis , Guillaume Christian , Godard Jean , Fiere Denis 
Published: February 2007

AbstractA 26‐year‐old man with hypereosinophilic syndrome who had initial neurologic, cardiac, and pulmonary dysfunction, high eosinophil count, thrombocytopenla, and bone marrow fibrosis had only a transient response to conventional treatment with corticosteroids and hydroxyurea. He therefore received human lymphocyte antigen‐identical allogeneic bone marrow transplantation (BMT) after conditioning with cytoxan and fractionated total body irradiation. Hematologic recovery was prompt, with normalization of blood counts and bone marrow. The patient died less than 3 months after transplantation from diffuse cytomegalovirus infection. Potential interest of BMT in patients with resistant hypereosinophilic syndrome and features of poor prognosis is discussed.
Random donor platelet crossmatching: Comparison of four platelet antibody detection methods
Authors: Freedman J. , Garvey M. B. , Hornstein A. , De Friedberg Z. Salomon , Blanchette V. 
Published: February 2007

AbstractThe standard lymphocytotoxicity assay (LCT), a biotin‐avidin enzyme immunoassay (ELISA), platelet suspension immunofluorescence test (PSIFT), and platelet radioactive antiglobulin test (PRAT) were examined in prospective crossmatching for selection of compatible random donor platelets for refractory patients. One hundred seven episodes of pooled random donor platelet transfusions were evaluated in 26 patients. There was good reproducibility of results by individual techniques. Concordance of results by the different methods was 40–60%. One‐hour and 24 hr posttransfusion corrected count increments (CCI) were compared as parameters for assessing success or failure of the transfusion. Using a rank scoring system, the relative efficiency of predictiveness for all transfusions was PRAT > LCT > PSIFT > ELISA. Combination of PRAT and LCT afforded the best predictability and sensitivity was higher than for either PRAT or LCT alone (93 vs. 79 and 62%, respectively). Mean posttransfusion CCI (x 108/L) following PRAT‐compatible platelets was 13.9 ± 12.7 at 1 hr and 7.3 ± 6.9 at 24 hr; following PRAT‐incompatible 5.7 ± 7.8 (1 hr) and 2.1 ± 4.1 (24 hr). Results were similar for LCT‐tested platelets. A radioimmunofiltration modification of the PRAT developed and used in selected cases was simple, fast, efficient, and inexpensive. The study indicated that the techniques evaluated are practical and feasible for routine use in the provision of compatible random donor platelets to the refractory patient who has no other cause for increased platelet destruction.
Undetectable bcr‐abl rearrangements in some CML patients are due to a deletion mutation in the bcr gene
Authors: Hirosawa Shinsaku , Aoki Nobuo , Matsushime Hitoshi , Shibuya Masabumi 
Published: February 2007

AbstractMost patients with chronic myelogenous leukemia (CML) have Philadelphia (Ph) chromosome. Breakpoints on chromosome 22 in CML occur in a small region designated as the breakpoint cluster region (bcr). More than 90 percent of CML patients have breakpoints in the bcr; the remaining patients had no detectable rearrangement. In our study, a commercially available 1.2 kb Hindlll‐Bglll (1.2 HBg) bcr probe was used to locate breakpoints in the bcr, which were found in 22 of 24 patients. Furthermore, using a probe upstream from the 1.2 HBg probe, rearranged bands were clearly detected in the two patients in whom no extra bands had been found with the 1.2 HBg probe. These results strongly susggest that these two patients carry a deletion at the acr‐abl recombination point encompassing the area of the 1.2 HBg probe. Therefore, in our series, all CML patients eventually had breakpoints in the bcr, and the involvement of rearrangement was demonstrated to be highly specific for CML. Our data indicate that hybridization of CML cellular DNA with several bcr probes is important in examining accurately the frequency of bcr‐abl rearrangements in CML, as some cases contain a deletion within the region.
The variant fetal hemoglobin F Texas I is abnormally acetylated
Authors: Keitt Alan S. , Jones Richard T. 
Published: February 2007

AbstractTwo related infants with indistinct slow‐moving minor hemoglobin bands were detected by electrophoretic cord blood screening. The variant separated into a major and a minor band on isoelectric focusing (IEF), anion exchange chromatography (AEC), and high‐performance liquid chromatography (HPLC). Analysis of the products of tryptic hydrolysis of the abnormal chain revealed a truncated AγT‐l peptide containing a glu→lys substitution at position 5, identifying the variant as Hb F Texas 1. Microsequencing of the major early peak from AEC confirmed the substitution. However, γ chains from the minor peak resisted Edman degradation and were shown to be acetylated by fast atom bombardment mass spectrometry (FABMS). Acetylation of HbF Texas I was nearly three times that of normal HbF measured in the same hemolysate, and this ratio remained constant for over 1 year in the proband. This represents the first demonstration of increased Nα‐acetylation of a variant fetal hemoglobin.
Acute leukemia following treatment of polycythemia vera and essential thrombocythemia with uracil mustard
Authors: Toh Ban T. , Gregory Stephanie A. , Knospe William H. 
Published: February 2007

AbstractTransformation to acute leukemia (AL) is known to occur in polycythemia Vera (PV) and essential thrombocythemia (ET). Myelosuppressive therapy with agents such as 32P and alkylating agents increase this risk in both disorders. The alkylating agent, uracil mustard (UM), which is an effective agent for controlling thrombocytosis, has not been reported to be leukemogenic. We have treated 29 patients with UM (9 treated continuously and 20 treated intermittently): II with PV, 16 with ET, and 2 with myelofibrosis (MF). Three patients developed AL, two after continuous therapy. These two patients with PV had received the fourth highest and highest total dose of UM, and their duration of treatment was the third and fourth longest among the nine patients treated continuously, respectively. One out of 20 patients treated intermittently with UM developed AL. This patient (3) with ET had received the highest total dose of UM, and her duration of treatment was the longest among the 20 patients treated intermittently.
Characterization of a new glucose‐6‐phosphate dehydrogenase variant: GGPD central city
Authors: Csepreghy Magdolena , Yeilding Allen , Lilly Michael , Hall Kelley , Scott C. W. , Prchal Josef T. 
Published: February 2007

AbstractGlucose‐6‐phosphate‐dehydrogenase deficiency is the most common disease‐producing enzyme deficiency in man. This paper describes a new glucose‐6‐phosphate‐dehy‐drogenase variant discovered during the evaluation of an episode of acute hemolytic anemia in a 62‐year‐old black male, which was temporally related to the ingestion of Tolbutamide. The hemolysis resolved within 10 days despite continuation of Tolbutamide. The erythrocyte glucose‐6‐phosphate‐dehydrogenase activity was significantly decreased, and its electrophoretic mobility was indistinguishable from wild type enzyme, though faster on starch gel with tris, borate, and phosphate buffers. The enzyme had a biphasic pH optimum reduced Km for G‐6‐P and NADP, decreased utilization of deamino‐NADP, and reduced Ki for NADPH. Because the kinetic properties of this enzyme were unique, we have designated it as G6PD Central City.
Absence of circulating natural killer (NK) cells in a child with erythrophagocytic lymphohistiocytosis lacking NK cell activity
Authors: Kawai Hiroshi , Komiyama Atsushi , Aoyama Kohki , Miyagawa Yukiaki , Akabane Taro 
Published: February 2007

AbstractA 5‐year‐old girl who was diagnosed as having erythrophagocytic lymphohistiocytosis died at age 9 years. Peripheral lymphocytes from the patient persistently lacked natural killer (NK) cell activity during the 4‐year observation period: the percent lysis values as measured by a 4‐hr 51 Cr release assay at a 40:1 effector:target ratio were below 1.0% against K562 and Molt‐4 cells as compared with the normal lymphocyte value (mean ± SD) of 46.2% ± 5.8% and 43.9% ± 6.7%, respectively. The patient's lymphocytes never developed NK cell activity by their incubation with target cells for longer time periods or by their stimulation with interferon‐α, interleukin‐2, or polyinosinic‐polycytidilic acid. Single cell‐in‐agarose assay showed the absence of target‐binding cells (TBCs): TBC numbers were below 0.3% as compared with the normal lymphocyte value of 8.1% ± 1.3% (mean ± SD). Flow cytometry showed a marked decrease in Leu‐7+ cells (1.7%) and the absence of Leu‐11+cells (0.4%) in the peripheral blood. These results first demonstrate a case of erythrophagocytic lymphohistiocytosis in which there is the lack of NK cell activity due to the absence of circulating NK cells.
Coagulation defects in cyclosporine a treated allogeneic bone marrow transplant patients
Authors: Smith Roy E. , Berg Dale D. 
Published: February 2007

AbstractCSA toxicity includes renal impairment, microangiopathic hemolytic anemia (MAHA), thrombocytopenia and consumptive coagulopathy (CC). We report five BMT patients who developed CSA‐associated hematological toxicity. All were conditioned with Ara‐C, Cyclophosphamide, Methylprednisolone, TBI, and in two cases busulfan. IV CSA was started the day after marrow infusion and, when practicable, changed to the enteral route. Five patients developed MAHA and T resulting in significantly increased transfusion requirements. All patients had renal impairment and red cell fragmentation. In all patients fragmentation was noted before renal impairment. All developed disproportionate increases in BUN relative to serum creatinine consistent with decreased renal perfusion. Hypertension followed renal impairment in four cases and occurred at the same time as the renal impairment in one case. Two developed CC, prolongation in APTT, and marked decreases in plasma fibrinogen. All patients improved on reduction of the CSA dose. BMT recipients receiving CSA at variable doses may develop evidence of a TTP‐like syndrome and/or CC.
Hemostatic effects of hormonal stimulation in patients with metastatic prostate cancer
Authors: Al‐Mondhiry Hamid , Manni Andrea , Owen John , Gordon Robert 
Published: February 2007

AbstractHemostatic abnormalities are common in patients with metastatic malignancy and are attributed, in part, to materials secreted by tumor cells. Tumor stimulation might therefore cause further perturbation of hemostasis. This article reports observations on the effects of androgen stimulation on multiple hemostatic parameters in patients with metastatic prostate cancer. Testosterone was given before chemotherapy in an experimental protocol designed to increase tumor sensitivity to cytotoxic agents. The following parameters were measured on day 0 (before) and days 2 and 4 of fluoxymesterone administration: PT, APTT, platelet count, plasma betathromboglobulin (BTG), platelet factor 4 (PF4), fibrinogen, fibrin(ogen) split products (FSP), factor VIII coagulant activity (VIII C), von Willebrand factor antigen (vWF Ag), fibrinopeptide A (FPA), antithrombin III (AT III), and protein C antigen (PC). Ten patients were studied during 17 cycles of hormonal stimulation. Baseline levels of BTG, PF4, fibrinogen, FSP, factor VIII C, vWF Ag, and FPA were significantly elevated compared with normal control. Although androgen stimulation resulted in elevation of BTG, FPA, and FSP levels by day 4 in many patients, the changes for the entire group were not statistically significant. Other parameters remained unchanged or were only slightly elevated. Two patients developed laboratory evidence of disseminated intravascular coagulation (DIC) but were clinically unaffected. Our data suggest that most patients with metastatic prostate cancer show evidence of ongoing activation of platelets, coagulation, and fibrinolysis. In a few individual patients, androgen stimulation of this hormonally dependent tumor may cause further activation of platelets, coagulation, and fibrinolysis.
Progression of a human B cell chronic lymphocytic leukemia line in nude mice
Authors: Ghose T. , Lee C. L. Y. , Faulkner G. , Fernandez L. A. , Lee S. H. S. 
Published: February 2007

AbstractSubcutaneous (s.c.) inoculation of the 85‐4LN subline, derived from a lymph nodal metastasis of the Epstein‐Barr virus (EBV) transformed human chronic lymphocytic leukemia (CLL) B cell line, EBV‐CLL (1), produced progressively growing lethal tumors in 31/35 nonirradiated (88.6%) and 22/25 (88%) of whole‐body irradiated (440 rad) nude mice. In contrast, EBV‐CLL(1) could produce progressive tumors only in irradiated nude mice. All 85‐4LN cells had Epstein‐Barr virus nuclear antigen and reacted with pan B and anti‐la antibodies. The morphology and ultrastructural features was consistent with the lymphoblastoid nature of the cells. In all s.c tumor bearing mice, there was enlargement of the spleen and draining lymph nodes. Karyological studies revealed human cells in the spleen and draining nodes in all the mice investigated. Metastases in nonlymphoid organs were seen in 1/8 irradiated and 8/12 nonirradiated mice. The subline contained 77% cells with 47,XY,+ 12 and 23% cells with 4,XY karyotype. The clone with trisomy 12 did not have any growth advantage either in s.c. transplants or in splenic/lymph nodal metastases. Treatment with the maximum permissible doses of methotrexate (MTX) or chlorambucil (CBL) revealed xenografts to be more sensitive to MTX than CBL. A clone with a 1g+ marker, i.e., 46,XY,Dup (1) (q11→q32) appeared to be associated with resistance to CBL. We have not seen any previous report on the growth and dissemination of human CLL B cells in nonirradiated nude mice. The 85‐4LN subline, thus, provides a model for studying the progression, dissemination and therapeutic response of human CLL‐B cells.