Genome wide characterization of minimally differentiated acute myeloid leukemia

Minimally differentiated acute myeloid leukemia (AML-M0) occurs in 5 percent of all AML cases as has a remarkably poor prognosis. The aim of this thesis was to characterize a cohort of AML-M0 cases at the genomic and gene expression level making use of single nucleotide polymorphism (SNP) analysis and gene expression profiling, among other techniques. In short, our study contributed in establishing RUNX1 biallelic mutations as a primary event in AML-M0 and showed that homozygosity of RUNX1 mutations was associated with uniparental disomy. We also showed that ETV6 mutation occurs in a small proposition of cases and detected a broad number of RUNX1/ETV6 collaborating mutations, most of which in members of the RAS signaling pathway. In addition, the results suggest that the association between RUNX1 mutation and trisomy 13, and concomitant increased in FLT3 expression, is an alternative way of activatin g the RAS signaling pathway. Finally, gene expression profiling (GEP) showed a distinct expression for AML-M0 cases which indicates they are a distinct entity from other AML groups. GEP also showed that AML-M0 is further subdivided into two distinct subgroups. One of these subgroups was associated with RUNX1 mutations and characterized by the expression of B-lymphocyte related genes."Fundação para a Ciência e a Tecnologia (Portugal)" and "Fundação Calouste Gulbenkian (Portugal)"UBL - phd migration 201

On spin-1 massive particles coupled to a Chern-Simons field

We study spin one particles interacting through a Chern-Simons field. In the Born approximation, we calculate the two body scattering amplitude considering three possible ways to introduce the interaction: (a) a Proca like model minimally coupled to a Chern-Simons field, (b) the model obtained from (a) by replacing the Proca's mass by a Chern-Simons term and (c) a complex Maxwell-Chern-Simons model minimally coupled to a Chern-Simons field. In the low energy regime the results show similarities with the Aharonov-Bohm scattering for spin 1/2 particles. We discuss the one loop renormalization program for the Proca's model. In spite of the bad ultraviolet behavior of the matter field propagator, we show that, up to one loop the model is power counting renormalizable thanks to the Ward identities satisfied by the interaction vertices.Comment: 14 pages, 5 figures, revte

Quasi-elastic processes of the 48Ca + 120Sn system and the 48Ca nuclear matter density

We present the results of a high-precision quasi-elastic excitation function measurement for the 48Ca + 120Sn system at θLAB = 160 at near-barrier energies in steps of 1.0 MeV. The corresponding quasi-elastic barrier distribution is derived. A large-scale coupled-channel calculation was performed to investigate the role of several reaction channels in the reaction mechanism. An excellent agreement between theory and data was obtained for the barrier distribution. The first quadrupole vibrations of the 48Ca and 120Sn, the 2n, and the 4He transfers have a strong influence on the reaction mechanism and are responsible for the good agreement achieved. The 1n transfer has a minor importance in the result when compared with the 2n transfer, which suggests that the pairing correlation might play an important role in the 2n-neutron transfer process. However, if the octupole vibration of the projectile is included in the coupling scheme, the agreement with the data gets worse. The comparison of the coupled-channel calculations with experimental data leads to the conclusion that the nuclear matter diffuseness of the 48Ca nucleus is 0.56 fm in agreement with most of the double-magic nuclei.European Community 26201

Ab initio calculations for bromine adlayers on the Ag(100) and Au(100) surfaces: the c(2x2) structure

Ab initio total-energy density-functional methods with supercell models have been employed to calculate the c(2x2) structure of the Br-adsorbed Ag(100) and Au(100) surfaces. The atomic geometries of the surfaces and the preferred bonding sites of the bromine have been determined. The bonding character of bromine with the substrates has also been studied by analyzing the electronic density of states and the charge transfer. The calculations show that while the four-fold hollow-site configuration is more stable than the two-fold bridge-site topology on the Ag(100) surface, bromine prefers the bridge site on the Au(100) surface. The one-fold on-top configuration is the least stable configuration on both surfaces. It is also observed that the second layer of the Ag substrate undergoes a small buckling as a consequence of the adsorption of Br. Our results provide a theoretical explanation for the experimental observations that the adsorption of bromine on the Ag(100) and Au(100) surfaces results in different bonding configurations.Comment: 10 pages, 4 figure, 5 tables, Phys. Rev. B, in pres