Abstract:
:In order to evaluate the feasibility of first trimester prenatal diagnosis of beta-thalassaemia by restriction fragment length polymorphism (RFLP) in Campania, one of the most affected regions in Southern Italy, DNA polymorphism analysis was performed on 40 unrelated patients, affected with homozygous beta-thalassaemia, and on their parents. Frequency of the presence of the Hinc II epsilon, Hind III G gamma and A gamma, Hinc II psi beta and 3' psi beta, Ava II psi beta, Ava II beta and Bam HI 3' beta sites have been determined in the beta A and beta thal chromosome samples. In 31 families (over 75%), RFLPs enabled tracing the beta-thalassaemia mutations in both father and mother (100% diagnosis). In the remaining nine families, RFLPs enabled tracing only one of the two mutations (50% diagnosis) because the other parent was found to be homozygous in all the analysed polymorphic sites. Restriction haplotypes, assembled on the basis of linkage analysis, were most heterogeneous, hence a wide heterogeneity of mutations is expected.
journal_name
Br J Haematoljournal_title
British journal of haematologyauthors
Carestia C,Pagano L,Fioretti G,Mastrobuoni Adoi
10.1111/j.1365-2141.1987.tb02332.xsubject
Has Abstractpub_date
1987-10-01 00:00:00pages
231-4issue
2eissn
0007-1048issn
1365-2141journal_volume
67pub_type
杂志文章abstract::Sixty patients with von Willebrand's disease belonging to 34 unrelated families were classified into the various types of the disease by analysis of the multimer patterns of von Willebrand factor. Type I disease was observed in 62% of the families, a finding similar to the recently published British and Swedish series...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1986.tb02966.x
更新日期:1986-03-01 00:00:00
abstract::T-cells from patients with B-cell chronic lymphocytic leukaemia (B-CLL) have abnormal T4/T8 ratios and functions. Previously, we demonstrated that peripheral blood (PB) mononuclear cells from B-CLL patients secrete significant amounts of interleukin 2 (IL2) with an apparent dysregulation of accessory cells controlling...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1988.tb06191.x
更新日期:1988-02-01 00:00:00
abstract::The addition of rituximab (R) to CHOP (cyclophosphamide, doxorubicin, vincristine, prednisone) chemotherapy was a milestone in the development of front-line therapy for diffuse large B-cell lymphoma (DLBCL). R-CHOP and equivalent rituximab-containing anthracycline-based regimens are now widely accepted as the standard...
journal_title:British journal of haematology
pub_type: 杂志文章,评审
doi:10.1111/j.1365-2141.2008.07383.x
更新日期:2008-12-01 00:00:00
abstract::The treatment of Hodgkin lymphoma (HL) is one of early success. However, disease-free survival (DFS) does not reflect latent organ injury and its impact on health status and well-being beyond 5 years. In fact, we are at a crossroads, in terms of needing individualized approaches to maintain DFS, while minimizing late ...
journal_title:British journal of haematology
pub_type: 杂志文章,评审
doi:10.1111/bjh.16197
更新日期:2019-12-01 00:00:00
abstract::Notwithstanding the improvement in treatment results for paediatric T cell acute lymphoblastic leukaemia (T-ALL) it remains important to understand if genetic aberrations influence therapy response. PTEN tumour suppressor gene inactivation is a frequent event in T-ALL but its effect on patient therapy response is deba...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/bjh.15449
更新日期:2018-09-01 00:00:00
abstract::High-dose chemotherapy (HDT) with autologous stem cell transplantation is the standard of care for relapsed/refractory (RR) Hodgkin lymphoma (HL). Given that HDT may cure a sizeable proportion of patients refractory to first salvage, development of newer conditioning regimens remains a priority. We present the results...
journal_title:British journal of haematology
pub_type: 杂志文章,多中心研究
doi:10.1111/bjh.13803
更新日期:2016-01-01 00:00:00
abstract::The clinico-pathological features of 12 cases of malignant histiocytosis (histiocytic medullary reticulosis), aged 12-60 years, were studied. Special emphasis was put on the analysis of the haematological, cytological and histopathological findings of the disease. Bone marrow aspirates and biopsies from involved tissu...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1978.tb03640.x
更新日期:1978-09-01 00:00:00
abstract::The transcriptome of the CD34+ cells was determined in a group of 10 patients with the 5q- syndrome using a comprehensive array platform, and was compared with the transcriptome of CD34+ cells from 16 healthy control subjects and 14 patients with refractory anaemia and a normal karyotype. The majority of the genes ass...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.2007.06833.x
更新日期:2007-11-01 00:00:00
abstract::A rapid, non-radioactive, PCR-based method to genotype the XbaI restriction fragment length polymorphism of the human factor VIII gene is described. The method uses long-distance PCR followed by XbaI restriction digestion and agarose gel electrophoresis. The 6.6 kb amplification product includes a constant XbaI site, ...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1046/j.1365-2141.1999.01731.x
更新日期:1999-12-01 00:00:00
abstract::Two new variants of erythrocytic glucose-6-phosphate dehydrogenase have been found in one German patient and in another patient of Turkish origin. The enzymes were partially purified 165-fold and 111-fold respectively. Both revealed reduced activity, increased thermolability and a pH-optimum in the alkaline region (8....
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1976.tb03552.x
更新日期:1976-07-01 00:00:00
abstract::To investigate the relationship between normal B-cells, B-cell chronic lymphocytic leukaemia (B-CLL) cells and hairy cell leukaemia (HCL) cells the three cell types were incubated with phorbol myristic acetate (PMA). The parameters studied were morphology, immunophenotype and tartrate resistant acid phosphatase (TRAP)...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1990.tb04349.x
更新日期:1990-07-01 00:00:00
abstract::Raised plasma levels of immunoreactive human calcitonin (i-HCT) have been found in patients with chronic granulocytic leukaemia (CGL) in chronic phase and myeloblastic transformation and in patients with acute myeloid leukaemia at presentation and in relapse. In CGL levels were significantly higher in myeloblastic tra...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1982.tb01911.x
更新日期:1982-02-01 00:00:00
abstract::The impact of age upon therapeutic response to unfractionated heparin (UFH) in children is proposed to reflect quantitative and potentially qualitative differences in coagulation proteins across childhood. This study explores the UFH-dependent tissue factor pathway inhibitor (TFPI) release in children compared to prev...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.2010.08373.x
更新日期:2010-11-01 00:00:00
abstract::A patient with advanced myeloid metaplasia was treated with alpha-interferon (29 months) with a remarkable response. He had anaemia, thrombocytopenia and hepatosplenomegaly with infarction. The initial bone marrow showed replacement with fibrosis with no evident haemopoietic cells. Post-therapy, the patient became asy...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1994.tb04802.x
更新日期:1994-03-01 00:00:00
abstract::In order to investigate whether the clinical behaviour of extranodal natural killer/T-cell lymphoma, nasal type (ENKTL) varies by race within a geographic region, we identified a total of 213 non-Hispanic whites, Hispanics and Asians/Pacific islanders (APIs) diagnosed with ENKTL in the California Cancer Registry betwe...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.2011.08982.x
更新日期:2012-03-01 00:00:00
abstract::Adults with acute leukaemia and abnormalities of chromosome 11q23 have a poor prognosis when treated with conventional chemotherapy. To determine whether more intensive therapy can improve outcome for patients with this karyotypic finding, a retrospective analysis of all patients with acute leukaemia and 11q23 abnorma...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1046/j.1365-2141.1998.01030.x
更新日期:1998-12-01 00:00:00
abstract::Interleukin-10 (IL-10) is one of the cytokines implicated in the pathogenesis of diffuse large B-cell lymphoma (DLBCL) in which it acts as auto/paracrine growth factor for lymphoma growth. T-cell non-Hodgkin lymphoma (NHL) is a heterogeneous disease, the biological basis of which is not fully understood. Some evidence...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.2007.06570.x
更新日期:2007-05-01 00:00:00
abstract::Heparin-induced thrombocytopenia (HIT) is mediated by a heparin-dependent antibody/platelet factor 4/heparin complex binding to platelets via the Fc gamma receptor (type IIA). A single base polymorphism at position 131 of Fc gamma RIIA changes the native arginine to histidine. In the presence of murine monoclonal IgG1...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1995.tb05383.x
更新日期:1995-11-01 00:00:00
abstract::Down syndrome (DS) children have a 10-20-fold increased risk of developing ALL or AML compared to non-DS children. An increased disomic homozygosity of the polymorphic DNA markers in the pericentromeric region of chromosome 21q (21q11) has repeatedly been found in DS patients with ANLL-M7 and DS-specific transient abn...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1046/j.1365-2141.1998.00924.x
更新日期:1998-10-01 00:00:00
abstract::The very poor outcome of invasive fungal infections (IFI) in patients with haematological malignancies or recipients of haematopoietic stem cell transplantation is largely attributed to their compromised host defence mechanisms. The restoration or augmentation of immune responses in these patients is now considered as...
journal_title:British journal of haematology
pub_type: 杂志文章,评审
doi:10.1111/j.1365-2141.2005.05498.x
更新日期:2005-06-01 00:00:00
abstract::Demand for anticoagulation management is increasing due to an expansion of clinical indications for therapy. One possible model of care to meet demand is patient self-management (PSM), beneficial to patients who need control over their condition. This study aimed to determine the cost and cost-effectiveness of PSM of ...
journal_title:British journal of haematology
pub_type: 杂志文章,随机对照试验
doi:10.1111/j.1365-2141.2006.06243.x
更新日期:2006-09-01 00:00:00
abstract::Imatinib mesylate (IM, STI 571, Glivec) can induce a high rate of complete cytogenetic response (CCR) in chronic myeloid leukaemia (CML) patients, although to date the majority of patients continue to have detectable disease by sensitive reverse transcription polymerase chain reaction (RT-PCR). It is therefore possibl...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1046/j.1365-2141.2003.04599.x
更新日期:2003-11-01 00:00:00
abstract::The recent advent of an improved commercial serum enzyme-linked immunosorbent assay (ELISA) for the detection of circulating galactomannan (GM), a major constituent of Aspergillus cell walls, has contributed to the diagnosis of invasive aspergillosis (IA) in many haematology and transplant centres. However, the optima...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.2004.05140.x
更新日期:2004-09-01 00:00:00
abstract::Bone involvement is the commonest clinical manifestation of sickle cell disease both in the acute setting such as painful vaso-occlusive crises, and as a source of chronic, progressive disability such as avascular necrosis. Management of these problems is often difficult because of the diagnostic imprecision of most l...
journal_title:British journal of haematology
pub_type: 杂志文章,评审
doi:10.1111/j.1365-2141.2005.05476.x
更新日期:2005-05-01 00:00:00
abstract::Red blood cells frozen by the low-glycerol fast-freezing technique were thawed, deglycerolized and resuspended in various media. The use of ACD-saline for resuspension markedly reduced in vitro haemolysis such that the red cells could be transfused up to 5 d after thawing. At this time the cells contained satisfactory...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1980.tb08718.x
更新日期:1980-04-01 00:00:00
abstract::Thrombotic events are common in patients with multiple myeloma (MM), smouldering myeloma (SM) and monoclonal gammopathy of undetermined significance (MGUS). Previous studies have indicated platelet hyperactivation as a feature of thrombotic risk in MM, but there is a dearth of data in MGUS. In the present study, multi...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/bjh.16774
更新日期:2021-01-01 00:00:00
abstract::The available data on rituximab in combination with chemotherapy confirm that the addition of an independently active biological agent to full-dose standard chemotherapy results in higher rates of complete response, lower rates of relapse, prolonged survival, little additional toxicity and no compromise of the dose in...
journal_title:British journal of haematology
pub_type: 指南,杂志文章,实务指引
doi:10.1046/j.1365-2141.2003.04274.x
更新日期:2003-04-01 00:00:00
abstract::Iron is required for monocyte/macrophage differentiation of HL-60 leukaemia cells. Differentiation requires induction of the cyclin-dependent kinase inhibitor p21 (WAF1/CIP1), and cell cycle arrest at the G1/S checkpoint. With iron depletion, p21 induction and differentiation are blocked. To establish the roles of iro...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1046/j.1365-2141.2002.03498.x
更新日期:2002-06-01 00:00:00
abstract::In whole blood from splenectomized subjects (n = 20), red cells showed a significant increase of mean surface area (MSA), mean cell volume (MCV), MSA/MCV-ratio and osmotic resistance, with the mean cell haemoglobin concentration (MCHC) being decreased. Studies on red cell populations of different cell age revealed tha...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1988.tb07605.x
更新日期:1988-05-01 00:00:00
abstract::Protein S is expressed in a number of tissue types, one of the most physiologically relevant being the liver. However, transcriptional control of protein S gene expression is poorly understood. We have characterised a 638 bp area in the 5' flanking region of the human protein S gene, spanning all 10 previously reporte...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.2006.06327.x
更新日期:2006-11-01 00:00:00