ISSN:0902-4441    

DOI:10.1111/j.1600-0609.1992.tb00584.x

出版商:Blackwell Publishing Ltd    

年代:1992

数据来源: WILEY

摘要:

Abstract:Of the 45 haemophilia‐B patients registered at the haemophilia centre in Malmo, Sweden, 24 are the sole members of their families to be affected, and in 13 of these 24 cases, ascendant relatives are available for study. Detection of the gene defect showed the mutation to bede novoin the proband in 3 of these 13 cases, and inherited from a carrier mother in the remaining 10 cases. All 10 carrier mothers were shown to havede novomutations, as the patients' grandfathers were phenotypically and/or haematologically normal, and the grandmothers were non‐carriers. Seven restriction fragment length polymorphisms (RFLPs) of the factor IX gene were used to determine whether thede izovomutations of the 10 carrier mothers were of paternal or maternal origin. In 6/10 cases, the RFLP patterns were informative, and indicated the mutation to be of paternal ori

ISSN:0902-4441    

DOI:10.1111/j.1600-0609.1992.tb00585.x

出版商:Blackwell Publishing Ltd    

年代:1992

数据来源: WILEY

摘要:

Abstract:In further studying the mechanism of action of IFN‐α in HCL, we cultured the HCL cell line JOK‐1 and the IFN‐sensitive Burkitt cell line Daudi with and without IFN‐a and investigated the changes in density of a number of surface antigens by use of mAb and flow cytometry analyses. During culture with IFN‐α, reproducible changes were induced in both cell lines, which were qualitatively similar but differed quantitatively with small and transient changes in JOK‐1. Significant decreases in surface antigen expression were observed for CD 19, 23, 37, and for IgM on both cell lines. Moreover, decreases were seen for CD 10, 22, 45, and MHC class I1 on Daudi, and for CD 20, 21, 27, and 40 on JOK‐1. By contrast, only a few antigens increased in density, including CD 39, A96/G8 and SC9, on both cell lines, CD 22 on JOK‐1, and CD 21 on Daudi. The increase in CD 39, A96/G8 and SC9 was probably directly related to the mechanism of action of IFN‐a, whereas the other changes were most consistent with an unspecific inhibition of protein synthesis, possibly due to an accumulation of cells in Go, even though a differentiating effect cannot be ruled out. Thus, the unique in vivo effect of IFN‐α in HCL was not parallelled by a specific direct effect on JOK‐1in vitro. Our findings therefore do not support the theory that IFN's mechanism of actionin vivois a direct effect on HC, but suggest that indir

ISSN:0902-4441    

DOI:10.1111/j.1600-0609.1992.tb00586.x

出版商:Blackwell Publishing Ltd    

年代:1992

数据来源: WILEY

摘要:

Abstract:We describe a novel gross deletion of the factor VIII gene in 5 related patients with severe hemophilia A. The deletion extends from intron 15 to at least 8.5 kb beyond the 3′ end of the gene (at least 95 kb of extension), and is associated with variable levels of FVIII inhibitor in 4 of the patients. The carrier detection in the family was based on the abnormal restriction pattern of the partially deleted gen

ISSN:0902-4441    

DOI:10.1111/j.1600-0609.1992.tb00587.x

出版商:Blackwell Publishing Ltd    

年代:1992

数据来源: WILEY

摘要:

Abstract:In an attempt to characterize host‐derived haemopoietic cells in mixed haemopoietic chimeras, we studied bone marrow cells from male patients with chronic myelocytic leukaemia (CML) transplanted with marrow grafts from female donors. Amplification of a Y chromosome‐specific sequence (YDNA) in DNA from marrow mononuclear cells using polymerase chain reaction (PCR) revealed persistence of host cells in 2 of 3 patients studied. On the other hand, persistence of Phl‐positive cells was unable to be demonstrated in the marrow cells from these patients using reverse transcription PCR (RT‐PCR) for detecting bcr‐abl chimeric messenger RNA. RT‐PCR sensitivity for detecting minimal Phl‐positive cells in a background of Ph1‐negative cells proved better than that of the PCR for detecting male cells among female cells. When bone marrow progenitor cells from one of the documented mixed chimeras were analyzed after anin vitrocolony assay using PCR, 2 of 12 erythroid burst‐forming units (BFU‐E) proved to be YDNA‐positive, i.e., of host origin, whereas none of them was shown to be Ph1‐positive, although 12 BFU‐E analyzed in the marrow cells obtained pretransplant from the same patient were all YDNA‐ and Phl‐positive. These findings indicate that, in some marrow transplant recipients with CML, a small number of host‐derived normal haemopoietic progenitor cells may persist following lethal chemoradiotherapy and allogeneic bone marrow transplantation despite the fact that Phl‐

ISSN:0902-4441    

DOI:10.1111/j.1600-0609.1992.tb00588.x

出版商:Blackwell Publishing Ltd    

年代:1992

数据来源: WILEY

摘要:

Abstract:The major stimulus for eythropoietin secretion is the circulating hemoglobin level, but other poorly understood factors appear to influence the erythropoietin level as well. Therefore, the effect of cobalamin deficiency was studied in patients who were not anemic, even though many of them had macrocytosis or metabolic deficiency of the bone marrow cells. All 15 cobalamin‐deficient patients without anemia had normal erythropoietin levels, including the 4 patients with macrocytosis and 3 in whom metabolic cobalamin deficiency of the marrow cells was documented with the deoxyuridine suppression test. Moreover, among 21 cobalamin‐deficient patients with anemia, the 4 least anemic patients also had normal erythropoietin levels. The other 17 anemic patients had elevated erythropoietin levels. Erythropoietin levels correlated with the severity of the anemia (r = 0.423, p<0.05). However, wide individual variations were observed; 4 patients with hemoglobin levels of 37–43 g/l had erythropoietin levels ranging from 69 to 3300 units/l, for example. These observations support the hypothesis that the hemoglobin level is the major, but not the sole factor that determines erythropoietin levels. As long as it does not produce anemia, however, cobalamin deficiency does not raise erythropoietin levels even when it induces metabolic deficiency of the bone marrow and macrocy

ISSN:0902-4441    

DOI:10.1111/j.1600-0609.1992.tb00589.x

出版商:Blackwell Publishing Ltd    

年代:1992

数据来源: WILEY

摘要:

Abstract:We studied dysplastic features in peripheral blood polymorphs from 80 patients with acute leukaemia. Thirty‐seven patients withde novoacute myeloblastic leukaemia (AML) were compared to 26 patients with AML that had developed after a myelodysplastic phase (MDS‐AML), and 17 cases of acute lymphoblastic leukaemia (ALL). Cytoplasmic hypogranulation in neutrophils, measured as a score value (G‐score; normal range: 255–300), and the percentage of pelgeroid polymorphs (ppp; normal range: 0–5%) were studied retrospectively by reviewing the diagnostic peripheral blood smears. The mean G‐score was decreased in MDS‐AML (178 ± 67.9), and inde novoAML (212 f 65.l), but not in ALL (275 ± 24.3). Whende nowAML patients were divided by age, the elderly (>60 yr) had significantly (p = 0.0001) lower mean G‐score than the younger (<45 yr) ones; 156 ± 64.8 v 243 ± 41.4. This age‐related difference became accentuated when only patients with extreme hypogranulation (G‐score<150) were studied. Elderlyde nowAML patients also had significantly (p = 0.0057) higher mean ppp. By studying the degree of polymorph dysplasia in the peripheral blood, it seems possible to identify a subset of dysplastic elderly AML patients, who might have passed a (preleukaem

ISSN:0902-4441    

DOI:10.1111/j.1600-0609.1992.tb00590.x

出版商:Blackwell Publishing Ltd    

年代:1992

数据来源: WILEY

摘要:

Abstract:Thrombocytopenia is a known complication of human immunodeficiency virus Type‐I (HIV‐1) infection, and more data need to be collected on its frequency, severity, and clinical sequelae. We determined the frequency of thrombocytopenia and its relationship to other HIV infection characteristics from a review of records of 1004 HIV‐infected patients attending two outpatient clinics in Washington, D.C. The self‐reported sources of HIV‐1 exposure were male homosexual activity (68j, bisexual activity (10%), heterosexual activity (6%), and intravenous drug use (15%). Fifty‐nine percent of the individuals were white, 37% were black and 94% were male. Fifteen percent had AIDS. Thrombocytopenia occurred more frequently in subjects with AIDS (21.2%) than in HIV‐infected individuals who did not fit clinical criteria for AIDS (9.2%) (p<0.001). Patients with few CD4‐positive cells and an advanced stage of disease were more likely to have low platelet counts: 30% with an absolute CD4 cell count lower than 200/mm3vs8 % with CD4 counts between 200 and 500 (p<0.00001), and 18.5yo with Stage IV disease compared to 7.6% in Stage I1 (p<0.001) had platelet counts less than 150000/mm3. Thrombocytopenia was more frequent in white males and older subjects. Although subjects infected by heterosexual exposure had a lower frequency of thrombocytopenia, intravenous drug users and homosexual men exhibited similar frequencies of thrombocytopenia. Of all subjects with platelet counts less than 50000/mm3, 40% reported bleeding and 1 died of an intracranial hemorrhage. Thrombocytopenia occurs frequently in HIV‐infected people, primarily in those with AIDS, low CD4 cell numbers, and advanced

ISSN:0902-4441    

DOI:10.1111/j.1600-0609.1992.tb00591.x

出版商:Blackwell Publishing Ltd    

年代:1992

数据来源: WILEY

摘要:

Abstract:Recent investigations have clarified some of the molecular mechanisms underlying the t(15;17) translocation specific for acute promyelocytic leukaemia (APL). Together with providing new insights into the pathogenesis of the disease, the identification of breakpoints within the RAR‐α and PML loci on chromosomes 17 and 15 has allowed a new relevant diagnostic tool for the recognition of this leukaemic form. We report the molecular characterization of 6 cases of acute myelogenous leukaemia (AML) in which a diagnosis of typical M3 by conventional morphocytochemistry (FAB criteria) was not accompanied by cytogenetic evidence of the specific t(15;17) aberration. DNA rearrangements were documented in all cases at the PML and RAR‐α loci. Moreover, in 4 cases also analysed by Northern blot hybridization, we could detect aberrant RAR‐α transcripts. These findings highlight the specificity of PML/RAR‐α rearrangements in APL, whereas the lack of t(15;17) may be attributed to sub‐microscopic translocations as well as to the presence of non‐neoplastic cells undergoing mitosis in the samples examine

ISSN:0902-4441    

DOI:10.1111/j.1600-0609.1992.tb00592.x

出版商:Blackwell Publishing Ltd    

年代:1992

数据来源: WILEY

ISSN:0902-4441    

DOI:10.1111/j.1600-0609.1992.tb00593.x

出版商:Blackwell Publishing Ltd    

年代:1992

数据来源: WILEY