bluuebunny/crossref_metadata_2025_split huggingface dataset:
Myelodysplastic syndrome with trisomy 8 in an adolescent with fanconi anaemia and selective igA deficiency
Authors: Standen Graham R. , Hughes Leuan A. , Geddes A. Denise , Jones Brian M. , Wardrop Charles A. J. 
Published: February 2007

AbstractWe describe a patient with growth failure and multiple congenital anomalies characteristic of Fanconi anaemia, but without the classical feature of progressive bone marrow hypoplasia. Following treatment with growth hormone for a period of 8 years, he presented with myelodysplastic syndrome and a karyotypically abnormal clone in the bone marrow (47,XY, + 8). The diagnosis of Fanconi anaemia was supported by the induction of abnormally high levels of characteristic chromosome aberrations in peripheral lymphocytes following exposure in vitro to the bifunctional alkylating agent mitomycin C. Immune function studies also identified a selective IgA deficiency. The relative importance of interacting constitutional and exogenous factors involved in the development of preleukaemia in this patient is discussed.
Impaired erythrocyte nad synthesis: A metabolic abnormality in thalassemia
Authors: Zerez Charles R. , Tanaka Kouichi R. 
Published: February 2007

AbstractWe have recently demonstrated that phosphoribosylpyrophosphate (PRPP) synthetase activity is decreased in RBC from individuals with thalassemia minor. Because NAD biosynthesis requires PRPP, the product of the PRPP synthetase reaction, we have investigated NAD synthesis in thalassemic RBC. NAD synthesis was measured in intact RBC both by following the accumulation of unlabeled NAD and by following the incorporation of 14C‐nicotinic acid into NAD. Using both assay systems, we demonstrate that NAD synthesis is decreased significantly in thalassemic RBC compared to either normal or high reticulocyte red cells. Although this suggested that NAD content should be decreased in thalassemic RBC, no significant difference in NAD content was found among thalassemic, normal, or high reticulocyte red cells. Mechanisms for the lack of a significant decrease in NAD content in thalassemic RBC are discussed. These results indicate that NAD synthesis is impaired in thalassemic RBC possibly as a result of their decrease in PRPP synthetase activity. Our data provide evidence that thalassemic RBC have secondary metabolic abnormalities in addition to their primary defect in hemoglobin synthesis.
Hb Warsaw (β42 Phe → Val): An unstable hemoglobin with decreased oxygen affinity. I. Hematologic and clinical expression
Authors: Honig George R. , Telfer Margaret C. , Rosenblum Barnett B. , Vida Loyda N. 
Published: February 2007

AbstractFour members in two generations of a Polish‐American family exhibited findings of congenital Heinz‐body hemolytic anemia accompanied by cyanosis. Two of the affected family members have also developed severe pulmonary hypertension, with a fatal outcome in one of them. Blood from the affected individuals showed decreased oxygen affinity and contained elevated levels of methemoglobin. An unstable hemoglobin fraction underwent rapid precipitation following exposure of the red cell lysates to isopropyl alcohol or heat. This hemoglobin contained a newly identified abnormal β chain with an amino acid substitution at the same position as that of Hb Hammersmith and Hb Bucuresti‐Louisville.
Flow cytometric evidence for minimal residual disease and cytological heterogeneities in acute lymphoblastic leukemia with severe hypodiploidy
Authors: Tsurusawa Masahito , Kaneko Yasuhiko , Katano Naoyuki , Niwa Makoto , Ito Mari , Fujimoto Takeo 
Published: February 2007

AbstractTwo subpopulations of small and large leukemia cells and binucleated cells were present in the bone marrow of a 10‐year‐old girl with acute lymphoblastic leukemia (ALL). Cytogenetic studies showed some cells with a karyotype of 34, X, ‐X, ‐2, ‐3, ‐4, ‐5, ‐7, ‐9, ‐13, ‐15, ‐16, ‐17, ‐20, and others with a karyotype that was exactly double the chromosome set in the cells with 34 chromosomes. Flow cytometric (FCM) examination of surface common ALL antigen (CALLA) and DNA content of the lymphoblasts led to the identification of the primary hypodiploid DNA stemline (DI = 0.72), which corresponds to the small‐sized blasts, and the secondary hyperdiploid DNA stemline (Dl = 1.44), which corresponds to the large‐sized blasts. Sequential bone marrow examinations with FCM and cytogenetics revealed the persistence of the primary hypodiploid clone during remission and their proliferation with chromosomal evolution at full relapse. These results suggest that more rational inductive therapy should be designed to achieve the favorable outcome of ALL with severe hypodiploidy and that FCM is a useful tool to monitor the minimal residual disease of this subgroup in ALL.
Severe hemolysis and red cell fragmentation caused by the combination of a spectrin mutation with a thrombotic microangiopathy
Authors: Jarolim Petr , Palek Jiri , Coetzer Theresa L. , Lawler Jack , Velez‐Garcia Enrique , Fradera Jean , Charles Agnes , Jacob Harry S. , Moake Joel L. 
Published: February 2007

AbstractTwo patients are described who presented with severe hemolysis and erythrocyte fragmentation. One patient had renal allograft rejection and disseminated intravascular coagulation, and the other had thrombotic thrombocytopenia purpura. The severity of hemolysis and the red cell abnormalities were considerably more profound than usually seen in patients with thrombotic microangiopathies. After evaluation of blood smears prepared before the onset of the disease and biochemical characterization of proteins of the red blood cell skeleton, a mutation of the skeletal protein spectrin, designated Sp α1/65, was identified. In the heterozygous form, this mutation manifests as mild, often asymptomatic, hereditary elliptocytosis. We conclude that in these two patients with thrombotic microangiopathy, the intrinsic red cell membrane instability resulting from the underlying skeletal defect aggravated the mechanical red cell fragmentation, producing morphological features similar to the severe hemolytic form of hereditary elliptocytosis or hereditary pyropoikilocytosis.
Current approaches to the chemotherapy of B‐cell chronic lymphocytic leukemia: A review
Authors: Cheson Bruce D. 
Published: February 2007

AbstractStandard therapy has not substantially improved the outcome of patients with chronic lymphocytic leukemia (CLL). However, an increased understanding of the biology and immunology of CLL, and the availability of several new and active chemotherapy agents (eg, fludarabine, 2′‐deoxycoformycin [DCF], 2‐chlorodeoxyadenosine [CDA]) has stimulated enthusiasm for clinical trials. DCF induces CRs or PRs in 25% of heavily treated patients. Fludarabine has been associated with a response rate of > 50% in previously treated patients, and > 70% in untreated patients, with almost a third of these achieving a CR. Currently, phase I and II clinical trials are evaluating combinations of these drugs with each other or with conventional agents (eg, fludarabine/chlorambucil [CLB]/ prednisone [P]; DCF/CLB/P; fludarabine/DCF; fludarabine/P) in previously treated patients. To facilitate comparison of these regimens, each study is adhering to the NCl‐Working Group guidelines for eligibility and response criteria, and toxicity assessment. A collaborative phase III trial will then compare the most promising of these regimens with “standard” chemotherapy in previously untreated patients. The widespread availability of these clinical trials will allow clinicians ready access to the new treatments.
Utility of flow cytometric reticulocyte quantification as a predictor of engraftment in autologous bone marrow transplantation
Authors: Davis Bruce H. , Bigelow Nancy , Ball Edward D. , Mills Letha , Cornwell Gibbons G. 
Published: February 2007

AbstractFlow cytometric reticulocyte quantification with thiazole orange (TO) was used to study erythropoiesis in 20 patients following autologous bone marrow transplantation for the treatment of acute myelogenous leukemia. Flow cytometric reticulocyte analysis provided not only the reticulocyte percentage and absolute reticulocyte count but a quantitative reticulocyte maturity index (RMI) proportional to the amount of RNA in the reticulocytes. The RMI values, but not the reticulocyte percentage or absolute counts, correlated temporally with the rise in the absolute neutrophil counts in the posttrans‐plantation period. In the majority of patients (12/20), the RMI value was the earliest indicator of bone marrow engraftment. The findings of this study demonstrate an important clinical utility of TO reticulocyte analysis by flow cytometry and indicate the diagnostic importance of the RMI measurement in the evaluation of erythropoietic activity in bone marrow transplant patients.
Low protein s in essential thrombocythemia with thrombosis
Authors: Conlan Maureen G. , Haire William D. 
Published: February 2007

AbstractPatients with essential thrombocythemia (ET) are at increased risk for large‐vessel and microvascular thrombosis, presumably because of abnormal platelet number and function. To determine if another hemostatic abnormality might contribute to this thrombotic risk, we investigated protein C and protein S and the fibrinolytic system in four patients with ET. The patients segregated into two distinct groups. The first group consisted of two patients with moderate thrombocytosis who were without thrombotic symptoms and who had normal protein S and protein C and normal fibrinolysis. The second group consisted of two patients with mild to moderate thrombocytosis and thrombosis. Both these latter two patients had abnormalities in protein S. The first patient had only 31% free protein S and 67% total protein S, with normal protein C and normal fibrinolysis. Following treatment, vasoocclusive symptoms resolved and platelet count decreased, but protein S remained low (28% free protein S). The second patient in this group had only 35% total protein S at initial study. Other hemostatic abnormalities were also present. Following treatment, symptoms resolved and protein S returned to normal. Based on this limited series, it appears that, in some patients with ET, thrombotic phenomena may be due to the presence of a second hemostatic abnormality in addition to the high platelet count and abnormal platelet function. This abnormality may be acquired as part of the disease process. Some of these abnormalities may be corrected following treatment.
Treatment of von willebrand's disease and hypofibrinogenemia with single donor cryoprecipitate from plasma exchange donation
Authors: McLeod Bruce C. , McKenna Rajalaxmi , Sassetti Richard J. 
Published: February 2007

AbstractConventional replacement therapy for hypofibrinogenemia and von Willebrand's disease requires multiple donor exposures and a correspondingly high risk of blood‐borne infection. We describe the collection and successful use of cryoprecipitate derived from a single donor by plasma exchange donation to support such patients through major hemostatic stresses. The father of an epileptic patient with von Willebrand's disease produced cryoprecipitate containing 23,546 units of von Willebrand factor (vWF) in nine desmopressin‐stimulated donations; this provided total factor replacement for neurosurgery to remove a seizure focus. The average yield was 2,616 units per donation and the average VWF concentration in cryoprecipitate was 17.7 units/ml. The husband of a hypofibrinogenemic patient with a history of postpartum hemorrhage provided cryoprecipitate containing 13.4 g of fibrinogen in five donations; this supported his wife through parturition without recourse to other blood products. The average yield was 2.7 g per donation, and the average fibrinogen concentration was 15.3 g/liter. Plasma exchange donation is a practical alternative source for cryoprecipitate. It can provide vWF and fibrinogen that carry a reduced risk of infectious disease transmission.
Hodgkin disease in a patient with common variable immunodeficiency
Authors: Fesus Susan M. , Hagemeister Fredrick B. , Manning John 
Published: February 2007

AbstractExtensive extralymphatic Hodgkin disease developed in a young man with common variable immunodeficiency manifested by hypogammaglobulinemia, recurrent sinopulmonary infections, and multiple autoimmune phenomena. Both humoral and cell‐mediated immune dysfunction were present prior to treatment. After two cycles of chemotherapy, irreversible shock developed, and death occurred secondary to overwhelming infection in spite of prophylactic gammaglobuiin replacement. The unusual features of this patient's case of extralymphatic Hodgkin disease in association with a primary immunodeficiency disorder have not been previously reported.
Inhibition of adenylate kinase by P1,P5‐Di(adenosine 5′) pentaphosphate in assays of erythrocyte enzyme activities requiring adenine nucleotides
Authors: Valentine William N. , Paglia Donald E. , Nakatani Misae , Brockway Richard A. 
Published: February 2007

AbstractP1,P5‐di(adenosine 5′)pentaphosphate (Ap5A) is an excellent inhibitor of human hemofysate adenylate kinase at concentrations near 2 μM and above. At ten times this concentration and in hemolysate enzyme assays under conditions described in this paper it appears not to alter reaction data in the case of hexokinase, phosphofructokinase, and phosphoglycerokinase. In the pyruvate kinase assay, very modest reductions in activity are noted, and kinetics with phosphoenolpyruvate, adenosine diphosphate (ADP), and uridine diphosphate (UDP) are unaltered.
Durable remission of pure red cell aplasia after treatment with high‐dose intravenous gammaglobulin and prednisone
Authors: Needleman Samuel W. 
Published: February 2007

AbstractPure red cell aplasia (PRCA) is a rare disorder of erythrocyte production believed to have an autoimmune basis in most cases. Responses to a variety of immunosuppressive regimens are regularly observed, but toxicity is considerable. Brief responses to high‐dose intravenous immunoglobulin (IVIg) have been previously reported. This case demonstrates a durable clinical remission of PRCA treated with IVIg and glucocorticoids.
CD7‐positive acute leukemia lacking T cell receptor gene rearrangements and terminal deoxynucleotidyl transferase expression suggesting pre‐T cell origin
Authors: Jacobs James C. , Rearden Ann 
Published: February 2007

AbstractIn this report, we describe a case of acute leukemia possessing a unique immunophenotype. Leukemic cells isolated from peripheral blood were analyzed by automated fluorescence‐activated flow cytometry. They demonstrated the following antigen pattern: CD7+, CD38+, transferrin receptor+, HLA‐DR+, common ALL antigen (CALLA)‐, and terminal deoxynucleotidyl transferase (TdT)‐. No expression of B cell or myeloid antigens was observed. The observed antigen pattern suggests a pre‐T cell origin. In addition, the tumor cells contained germline T cell receptor beta (Tβ) and gamma (T±) chain genes, and a germline immunoglobulin heavy chain (JH) gene. These findings support the concept that pre‐T cell leukemias may demonstrate germline Tβ and T± genes as well as lack TdT expression. In addition, our results suggest that CD7 expression may be one of the earliest events in T cell differentiation, occurring prior to both Tβ and T± gene rearrangements, and TdT expression.
Dominantly transmitted hematologic dysfunction clinically similar to fanconi's anemia
Authors: Alter Carol L. , Levine Paul H. , Bennett John , Kessler Craig , Rick Margaret , Washburn Ronald G. , Gallin John I. , Miller Robert W. , Auerbach Arleen D. 
Published: February 2007

AbstractWe report a family with a dominantly transmitted syndrome resembling Fanconi's anemia and spanning two generations. This syndrome was characterized by an ill‐defined hematologic stem cell disorder, immune dysfunction, poor dentition, hyperpigmented skin, warts, and multiple second trimester spontaneous abortions and included one case of acute myelomonocytic leukemia (acute non‐lymphocytic leukemia, M4). This family lacks the characteristic chromosomal aberrations of Fanconi's anemia. We believe this constellation of findings represents an entity not previously described.
Thrombin generation in patients with thrombotic thrombocytopenic purpura
Authors: Takahashi Hoyu , Tatewaki Wataru , Wada Ken , Shibata Akira 
Published: February 2007

AbstractThrombotic thrombocytopenic purpura (TTP) is thought to be caused primarily by endothelial cell injury or primary platelet agglutination. A coagulation screen usually shows normal or minimal changes, but a modest elevation of fibrinogen/fibrin degradation products (FDP) is observed in many patients with TTP. To assess the thrombin generation in vivo in TTP, plasma levels of thrombin‐antithrombin III complex (TAT) were measured together with plasmin‐α2‐antiplasmin complex (PAP) in ten patients with acute TTP. Plasma TAT [mean 6.7 ± (SD) 3.7 μg/liter] as well as PAP (2.1 ± 1.2 mg/liter) were elevated in patients wtih TTP as compared with healthy subjects (TAT of 1.7 ± 0.3 μg/liter and PAP of 0.2 ± 0.1 mg/liter; n = 10). These findings indicate that considerable amounts of thrombin and plasmin are actually generated in TTP, although the majority of patients do not show signs of consumption coagulopathy.
Newborn's fibrinolytic mechanism: Components and plasmin generation
Authors: Corrigan James J. , Sleeth Jeffrey J. , Jeter Monette , Lox Charles D. 
Published: February 2007

AbstractPlasminogen activity and antigen, tissue‐type plasminogen activator (tPA) activity and antigen, plasminogen activator inhibitor (PAI) activity, and plasmin generation rates were determined in 32 normal newborn plasmas and 25 normal adult plasmas. The newborns showed reduced levels of plasminogen activity and antigen and tPA antigen, and activity, normal levels of PAI activity, and slower plasmin generation rates. The slower generation was shown to be due to the hypoplasminogenemia. The in vitro plasmin generation studies also showed that the newborn needed 11 times the usual concentration of urokinase and 5 times the usual concentration of tPA to achieve the minimal activation rate of the adult.
Type II H von willebrand disease: New structural abnormality of plasma and platelet von willebrand factor in a patient with prolonged bleeding time and borderline levels of ristocetin cofactor activity
Authors: Federici Augusto B. , Mannucci Pier Mannuccio , Lombardi Rossana , Lattuada Antonella , Colibretti Maria Luisa , Dent Judith A. , Zimmerman Theodore S. 
Published: February 2007

AbstractIn this study a new variant of type II von Willebrand disease is identified by multimeric analyses of increasing resolving power. Prior to multimeric analysis, the patient was misdiagnosed as carrying an undefined abnormality in platelet function because of his normal von Willebrand factor antigen (vWF:Ag) and low borderline ristocetin cofactor (Ricof) levels. Absence of the largest multimers from the patient's plasma and platelets was shown in a low‐resolution system, but all the multimers were present in his relatives. An abnormality in the complex multimeric structure was demonstrated in both plasma and platelets with high‐resolution agarose gels. The plasma of the proband and of several family members shows a broader central band with a minor, faster moving satellite band differing from the typical “triplet pattern” observed with normal plasma. Platelets show a “doublet” that runs with a mobility different from the “doublet” in normals. Therefore the proband may be either a homozygote or double heterozygote for this new abnormality. Treatment with desmopressin (DDAVP) on several occasions corrected the prolonged bleeding time of the patient only transiently. Factor VIII increased significantly, but vWF: Ag and Ricof responded poorly. We conclude that this vWF abnormality is different from those observed in the other variants (II A–G) previously described. Therefore the proposed designation for this new variant is type II H.
Multilobated non‐hodgkin lymphoma of B‐cell type: Leukemization and multiorganic involvement
Authors: Millá F. , Juncà J. , Flores A. , Lorenzo J. C. , Andreu J. , Navas J. J. 
Published: February 2007

AbstractA case of multilobated non‐Hodgkin lymphoma (Pinkus' lymphoma) is presented. Its clinical manifestations (extreme leukemization) and immunological characteristics are stressed.
Horner's syndrome and demyelinating peripheral neuropathy caused by high‐dose cytosine arabinoside
Authors: Nevill T. J. , Benstead T. J. , McCormick C. W. , Hayne O. A. 
Published: February 2007

AbstractHigh‐dose cytosine arabinoside may benefit patients with refractory acute leukemia. Peripheral nervous system disturbances caused by cytosine arabinoside have rarely been reported. We describe a patient with acute leukemia who developed Horner's syndrome and a severe demyelinating peripheral neuropathy leading to death after receiving highdose cytosine arabinoside. Peripheral nerve dysfunction is a potentially serious complication of high‐dose cytosine arabinoside.
Clinical manifestations of essential thrombocythemia in young adults
Authors: Millard Frederick E. , Hunter Christine S. , Anderson Michael , Edelman Martin J. , Kosty Michael P. , Luiken George A. , Marino Gregory G. 
Published: February 2007

AbstractEssential thrombocythemia (ET) is a myeloproliferative disorder characterized by isolated overproduction of platelets, thrombohemorrhagic complications, and a median age of 50–60. When it occurs in younger patients, the incidence of complications has been reported to be quite low, with a good long‐term prognosis. We report a retrospective review of 13 patients with ET between the ages of 22 and 35 in which 11 were symptomatic at diagnosis, with only one remaining asymptomatic during follow‐up. Three patients presented with potentially life‐threatening complications (two myocardial infarctions, one stroke), although no deaths were observed. The majority of the nonlife‐threatening complications were vaso‐occlusive in nature, including erythromelalgia and transient neurologic symptoms. We conclude that ET in young adults is not always a benign disease and that potentially life‐threatening complications are not rare. The optimum approach to treatment in this or any other age group remains uncertain.
Chromosomal abnormalities define clonal proliferation in CD3‐ large granular lymphocyte leukemia
Authors: Taniwaki Masafumi , Tagawa Shinichi , Nishigaki Hikari , Horiike Shigeo , Misawa Shinichi , Shimazaki Chihiro , Maekawa Taira , Fujii Hiroshi , Kitani Teruo , Abe Tatsuo 
Published: February 2007

AbstractSix patients with lymphoproliferative disorder of large granular lymphocytes (LDGL) were studied for chromosomal abnormalities. When the patients were divided into two groups depending on the expression of a mature antigen of T cell lineage, CD3, two with CD3 + phenotype had a stable disease, whereas three of the four patients with CD3‐ phenotype had marked hepatosplenomegaly and a highly aggressive disease. Chromosomal abnormalities were detected in four of six patients, indicating a clonal proliferation of large granular lymphocytes in individual patients. In particular, chromosomal abnormalities were found in three of the four patients with CD3‐ LDGL. all of which had a germ‐line configuration of the T cell receptor beta‐chain gene. Thus, the chromosomal abnormalities provide definitive evidence for the clonal origin of the expanded cells in the CD3‐LDGL.