Search results for "BP"
showing 10 items of 672 documents
Triple Negative Myelofibrosis and Myelodysplastic Syndrome with Fibrosis: Clinico-Biological Characterization and Correlation with Gene Mutations
2018
Abstract Introduction: Triple negative primary myelofibrosis (TN-PMF) and myelodysplastic syndromes with fibrosis (F-MDS) are rare entities, often difficult to distinguish each other. Currently, no specific molecular markers allowing a precise differential diagnosis are available. In this sense, next generation techniques (NGS) might be useful to distinguish between both entities and to refine prognosis. Methods: Thirty-nine patients with TN-PMF (n=16) or F-MDS (n=23) were analyzed, Targeted NGS was performed in 28 cases (10 TN-PMF and 18 F-MDS) using the Sophia Genetics Myeloid Tumor Solution Panel including the following genes: ABL1, ASXL1, BRAF, CALR, CBL,CEBPA, CSF3R,CSNK1A1,DNMT3A, ETV…
Monitoring of Minimal Residual Disease (MRD) of DNMT3A Mutations (DNMT3Amut) in Acute Myeloid Leukemia (AML): A Study of the AML Study Group (AMLSG)
2015
![Graphic][1] Background : The DNA methyltransferase 3A ( DNMT3A) is one of the most frequent mutated genes in AML with a hot spot mutation at codon R882 in 80% of the DNMT3A mut cases. In most of the studies DNMT3A mut predicts for poor overall (OS) and relapse-free survival (RFS). Recently, DNMT3A mut have been associated with age-related clonal hematopoiesis, and they have been identified in early preleukemic stem cells. These findings suggest that DNMT3A mut represents an early event in leukemogenesis and may be part of the leukemia founder clone in most AMLs harboring a DNMT3A mut. We thought to address the question whether MRD monitoring in DNMT3A mut patients (pts) can be used for pr…
Confirmation of TNIP1 but not RHOB and PSORS1C1 as systemic sclerosis risk factors in a large independent replication study
2012
Item does not contain fulltext INTRODUCTION: A recent genome-wide association study in European systemic sclerosis (SSc) patients identified three loci (PSORS1C1, TNIP1 and RHOB) as novel genetic risk factors for the disease. The aim of this study was to replicate the previously mentioned findings in a large multicentre independent SSc cohort of Caucasian ancestry. METHODS: 4389 SSc patients and 7611 healthy controls from different European countries and the USA were included in the study. Six single nucleotide polymorphisms (SNP): rs342070, rs13021401 (RHOB), rs2233287, rs4958881, rs3792783 (TNIP1) and rs3130573 (PSORS1C1) were analysed. Overall significance was calculated by pooled analys…
Functional categories of TP53 mutation in colorectal cancer: results of an International Collaborative Study.
2006
Item does not contain fulltext BACKGROUND: Loss of TP53 function through gene mutation is a critical event in the development and progression of many tumour types including colorectal cancer (CRC). In vitro studies have found considerable heterogeneity amongst different TP53 mutants in terms of their transactivating abilities. The aim of this work was to evaluate whether TP53 mutations classified as functionally inactive (< or=20% of wildtype transactivation ability) had different prognostic and predictive values in CRC compared with mutations that retained significant activity. MATERIALS AND METHODS: TP53 mutations within a large, international database of CRC (n = 3583) were classified ac…
A multicenter observational study on the role of comorbidities in the recurrent episodes of benign paroxysmal positional vertigo
2014
Objective: Primary objective of this study was to find a statistical link between the most worldwide comorbidities affecting the elderly population (hypertension, diabetes, osteoarthrosis, osteoporosis and depression) and recurrent episodes of BPPV. Secondary objective was defining possible "groups of risk" for people suffering recurrent positional vertigo related to the presence of a well documented comorbidity. Methods: This was an observational, cross-sectional, multicenter, spontaneous, non-pharmacological study. The data of 1092 patients suffering BPPV evaluated in 11 different Departments of Otolaryngology, Otoneurology and Neurology, referring Centers for positional vertigo evaluatio…
"Table 88" of "Measurement of jet fragmentation in Pb+Pb and $pp$ collisions at $\sqrt{s_{NN}} = 5.02$ TeV with the ATLAS detector"
2019
Excess transverse momenta in jet in PbPb compared to pp collisions in different centrality selections for abs(jet rapidity) < 2.1.
"Table 84" of "Measurement of jet fragmentation in Pb+Pb and $pp$ collisions at $\sqrt{s_{NN}} = 5.02$ TeV with the ATLAS detector"
2020
Excess transverse momenta in jet in PbPb compared to pp collisions in different centrality selections for abs(jet rapidity) < 2.1.
"Table 85" of "Measurement of jet fragmentation in Pb+Pb and $pp$ collisions at $\sqrt{s_{NN}} = 5.02$ TeV with the ATLAS detector"
2020
Excess particles in jet in PbPb compared to pp collisions in different centrality selections for abs(jet rapidity) < 2.1.
"Table 89" of "Measurement of jet fragmentation in Pb+Pb and $pp$ collisions at $\sqrt{s_{NN}} = 5.02$ TeV with the ATLAS detector"
2019
Excess particles in jet in PbPb compared to pp collisions in different centrality selections for abs(jet rapidity) < 2.1.
"Table 63" of "Measurement of jet fragmentation in Pb+Pb and $pp$ collisions at $\sqrt{s_{NN}} = 5.02$ TeV with the ATLAS detector"
2019
The ratio of the D(pT) in different centrality intervals in PbPb and in pp for 199.53 < pTjet < 251.19 and 0.8 < eta < 1.2.