Haematologica
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Case Reports Comparative Study
Fibrinogen Mumbai: intracellular retention due to a novel G434D mutation in the Bbeta-chain gene.
Afibrinogenemia and hypofibrinogenemia are rare inherited coagulation disorders characterized by hemorrhagic manifestations of variable entity and by plasma fibrinogen deficiency. So far, 57 mutations have been associated with these disorders, and 18 of these are missense mutations. The aim of this study was to characterize the molecular mechanism underlying severe hypofibrinogenemia in a proband from India. ⋯ The G434D substitution causes severe hypofibrinogenemia by impairing fibrinogen secretion. Expression data confirm the importance of Bbeta-chain D domain folding in the intracellular processing of fibrinogen.
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Imatinib mesylate is highly effective in relapsed chronic myelogenous leukemia (CML) after allogeneic hematopoetic stem cell transplantation (HSCT). However, it is unknown whether imatinib produces durable molecular remissions. ⋯ Imatinib therapy resulted in a higher incidence of relapse and inferior leukemia-free survival (p=0.006 and p=0.016, respectively). These data suggest that imatinib alone probably does not cure relapse after HSCT.
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The introduction of imatinib mesylate has changed attitudes towards hematopoietic stem cell transplantation (HSCT) for chronic myeloid leukemia (CML). Information on the current use and results of HSCT is warranted. Data from 592 teams in 42 European countries described their use of HSCT for CML from 1990 to 2004. ⋯ HSCT remains an important treatment option for patients with CML. The data describe the current status of this option and the outcome a patient can expect today. They provide an objective basis for decision making.
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We explored the predictive value on therapy outcome of an early evaluation of treatment response by 18F-fluorodeoxyglucose position emission tomography (18F-FDG-PET) scan performed after two courses of conventional standard-dose chemotherapy in advanced-stage Hodgkin's disease. ⋯ 18F-FDG-PET scan performed after two courses of conventional standard-dose chemotherapy in advanced-stage Hodgkin's disease was able to predict treatment outcome in 103/108 (95%) of the patients.
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It is now evident that patients experiencing febrile neutropenia induced by chemotherapy do not constitute a homogeneous group. With increasing accuracy it is now possible to identify low-risk patients for whom less intensive and more convenient treatment may be appropriate. ⋯ The MASCC risk-index is a valuable tool for identifying febrile neutropenic patients at low risk for complications. Oral antibiotic treatment following discharge from the hospital 24 hours after defervescence offers a safe and cost-effective alternative to the conventional management of carefully selected low-risk patients.