130,801 research outputs found
ATM mutation rather than BIRC3 deletion and/or mutation predicts reduced survival in 11q-deleted chronic lymphocytic leukemia: data from the UK LRF CLL4 trial
No full textATM mutation and BIRC3 deletion and/or mutation have independently been shown to have prognostic significance in chronic lymphocytic leukemia. However, the relative clinical importance of these abnormalities in patients with a deletion of 11q encompassing the ATM gene has not been established. We screened a cohort of 166 patients enriched for 11q-deletions for ATM mutations and BIRC3 deletion and mutation and determined the overall and progression-free survival among the 133 of these cases treated within the UK LRF CLL4 trial. SNP6.0 profiling demonstrated that BIRC3 deletion occurred in 83% of 11q-deleted cases and always co-existed with ATM deletion. For the first time we have demonstrated that 40% of BIRC3-deleted cases have concomitant deletion and mutation of ATM. While BIRC3 mutations were rare, they exclusively occurred with BIRC3 deletion and a wildtype residual ATM allele. In 11q-deleted cases, we confirmed that ATM mutation was associated with a reduced overall and progression-free survival comparable to that seen with TP53 abnormalities, whereas BIRC3 deletion and/or mutation had no impact on overall and progression-free survival. In conclusion, in 11q-deleted patients treated with first-line chemotherapy, ATM mutation rather than BIRC3 deletion and/or mutation identifies a subgroup with a poorer outcome
Thrombotic thrombocytopenic purpura and haemolytic uraemic syndrome (congenital and acquired)
No full textRare bleeding disorders
No full textF5F8D, and mutations -in LMAN1 or MCFD2 proteins; Factor V deficiency -FV, double role in coagulation process; Factor X deficiency -FX glycoprotein, pivotal role in coagulation cascade; Genetic variants -identified along prothrombin gene; Knockout mouse models -coagulation factors and vitamin K dependent proteins; Patients with FXIII-A deficiency -bleeding tendency, life-threatening symptoms as umbilical-cord and CNS bleeding; Prothrombin deficiency -rarest inherited coagulation disorder; Rare bleeding disorders; Rare bleeding disorders (RBDs), inherited deficiencies -coagulation factors as fibrinogen, factor (F) II, FV, combined FV and FVIII; Vitamin K-dependent coagulation factors deficiency (VKCFD
Treatment of T-cell large granular lymphocytic leukaemia the role for methotrexate and cyclosporin A in new, relapsed and refractory cases.
No full textThrombotic thrombocytopenic purpura and haemolytic uraemic syndrome (congenital and acquired)
No full textGene expression profiling of sporadic T-cell prolymphocytic leukaemia identifies two distinct groups.
No full textMeSH term explosion and author rank improve expert recommendations
No full textInformation overload is an often-cited phenomenon that reduces the productivity, efficiency and efficacy of scientists. One challenge for scientists is to find appropriate collaborators in their research. The literature describes various solutions to the problem of expertise location, but most current approaches do not appear to be very suitable for expert recommendations in biomedical research. In this study, we present the development and initial evaluation of a vector space model-based algorithm to calculate researcher similarity using four inputs: 1) MeSH terms of publications; 2) MeSH terms and author rank; 3) exploded MeSH terms; and 4) exploded MeSH terms and author rank. We developed and evaluated the algorithm using a data set of 17,525 authors and their 22,542 papers. On average, our algorithms correctly predicted 2.5 of the top 5/10 coauthors of individual scientists. Exploded MeSH and author rank outperformed all other algorithms in accuracy, followed closely by MeSH and author rank. Our results show that the accuracy of MeSH term-based matching can be enhanced with other metadata such as author rank
Going Beyond Counting First Authors in Author Co-citation Analysis
No full textThe present study examines one of the fundamental aspects of author co-citation analysis (ACA) - the way co-citation
counts are defined. Co-citation counting provides the data on which all subsequent statistical analyses and mappings
are based, and we compare ACA results based on two different types of co-citation counting - the traditional type that
only counts the first one among a cited work's authors on the one hand and a non-traditional type that takes into
account the first 5 authors of a cited work on the other hand. Results indicate that the picture produced through this non-traditional author co-citation counting contains more coherent author groups and is therefore considerably clearer. However, this picture represents fewer specialties in the research field being studied than that produced through the traditional first-author co-citation counting when the same number of top-ranked authors is selected and analyzed. Reasons for these effects are discussed
The efficacy of alemtuzumab for refractory chronic lymphocytic leukemia in relation to cytogenetic abnormalities of p53
No full textWe reviewed the efficacy of alemtuzumab in the treatment of 28 patients with refractory chronic lymphocytic leukemia (CLL) in whom p53 status was known. Overall responses of 53.6% (complete responses 17.9%) were attained with no significant difference between patients with (50%) or without (55%) p53 deletion (p=0.214). We confirm the efficacy of alemtuzumab in refractory CLL irrespective of p53 deletions, and advocate its introduction earlier in disease course
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