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Chromosomal rearrangements of the human MLL/KMT2A gene are associated with infant, pediatric, adult and therapy-induced acute leukemias. Here we present the data obtained from 2345 acute leukemia patients. Genomic breakpoints within the MLL gene and the involved translocation partner genes (TPGs) were determined and 11 novel TPGs were identified. Thus, a total of 135 different MLL rearrangements have been identified so far, of which 94 TPGs are now characterized at the molecular level. In all, 35 out of these 94 TPGs occur recurrently, but only 9 specific gene fusions account for more than 90% of all illegitimate recombinations of the MLL gene. We observed an age-dependent breakpoint shift with breakpoints localizing within MLL intron 11 associated with acute lymphoblastic leukemia and younger patients, while breakpoints in MLL intron 9 predominate in AML or older patients. The molecular characterization of MLL breakpoints suggests different etiologies in the different age groups and allows the correlation of functional domains of the MLL gene with clinical outcome. This study provides a comprehensive analysis of the MLL recombinome in acute leukemia and demonstrates that the establishment of patient-specific chromosomal fusion sites allows the design of specific PCR primers for minimal residual disease analyses for all patients.

The Rosetta spacecraft has investigated comet 67P/Churyumov-Gerasimenko from large heliocentric distances to its perihelion passage and beyond. We trace the seasonal and diurnal evolution of the colors of the 67P nucleus, finding changes driven by sublimation and recondensation of water ice. The whole nucleus became relatively bluer near perihelion, as increasing activity removed the surface dust, implying that water ice is widespread underneath the surface. We identified large (1500 square meters) ice-rich patches appearing and then vanishing in about 10 days, indicating small-scale heterogeneities on the nucleus. Thin frosts sublimating in a few minutes are observed close to receding shadows, and rapid variations in color are seen on extended areas close to the terminator. These cyclic processes are widespread and lead to continuously, slightly varying surface properties.

Ab-initio predictions of nuclei with masses up to A~100 or more are becoming possible thanks to novel advances in computations and in the formalism of many-body physics. Some of the most fundamental issues include how to deal with many-nucleon interactions, how to calculate degenerate—open shell—systems, and pursuing ab-initio approaches to reaction theory. Self-consistent Green's function (SCGF) theory is a natural approach to address these challenges. Its formalism has recently been extended to three- and many-body interactions and reformulated within the Gorkov framework to reach semi-magic open shell isotopes. These exciting developments, together with the predictive power of chiral nuclear Hamiltonians, are opening the path to understanding large portions of the nuclear chart, especially within the sd and pf shells. The present talk reviews the most recent advances in ab-initio nuclear structure and many-body theory that have been possible through the SCGF approach.

Abstract Atmospheric pollution is one of the main concerns in modern society and it poses a direct impact on the environment and public health. Therefore, an enormous number of environmental samples are collected and analyzed around the world on a daily basis. In order to obtain reliable and comparable results, it is paramount to establish a well-defined protocol for environmental sampling and analysis considering the more relevant variations associated with these activities and the processes that affect the distribution of the analytes in the environment. The present case study proposes a protocol to determine the amounts of the platinum group elements (PGEs: palladium, platinum, rhodium) due to atmospheric deposition in Tibouchina granulosa leaves that takes into account the estimation of measurement uncertainties including the sampling component. The samples were collected at a standardized height, in the second node of the branches, with approximately 2 months of environmental exposure. The particulate matter was extracted from the leaf surface by acid leaching using an ultrasonic bath followed by aqua regia digestion. Platinum (Pt), palladium (Pd), and rhodium (Rh) were separated from impurities by cation chromatography and analyzed by ICP-MS. The measurement uncertainties found were in the range of 24 to 33% while the analytical uncertainty lied between 4.5 and 7.3%. The results were expressed regarding metrological aspects, with the expanded uncertainty, within a 95% confidence level, to allow for a more robust interpretation of their relevance in the environmental and regulatory context.

We show first results for the elastic scattering of neutrons off oxygen and calcium isotopes obtained from ab initio optical potentials. The potential is derived using self-consistent Green's function theory (SCGF) with the saturating chiral interaction NNLOsat. Calculations are compared to available scattering data and show that it is possible to reproduce low energy scattering observables in medium mass nuclei from first principles.

The Optical, Spectroscopic, and Infrared Remote Imaging System OSIRIS is the scientific camera system onboard the Rosetta spacecraft (Figure 1). The advanced high performance imaging system will be pivotal for the success of the Rosetta mission. OSIRIS will detect 67P/Churyumov-Gerasimenko from a distance of more than 106 km, characterise the comet shape and volume, its rotational state and find a suitable landing spot for Philae, the Rosetta lander. OSIRIS will observe the nucleus, its activity and surroundings down to a scale of ~2 cm px−1. The observations will begin well before the onset of cometary activity and will extend over months until the comet reaches perihelion. During the rendezvous episode of the Rosetta mission, OSIRIS will provide key information about the nature of cometary nuclei and reveal the physics of cometary activity that leads to the gas and dust coma.OSIRIS comprises a high resolution Narrow Angle Camera (NAC) unit and a Wide Angle Camera (WAC) unit accompanied by three electronics boxes. The NAC is designed to obtain high resolution images of the surface of comet 67P/Churyumov-Gerasimenko through 12 discrete filters over the wavelength range 250–1000 nm at an angular resolution of 18.6 μrad px−1. The WAC is optimised to provide images of the near-nucleus environment in 14 discrete filters at an angular resolution of 101 μrad px−1. The two units use identical shutter, filter wheel, front door, and detector systems. They are operated by a common Data Processing Unit. The OSIRIS instrument has a total mass of 35 kg and is provided by institutes from six European countries.

Burkina Faso is located in the heart of West Africa and is a representative of the local structured patterns of human variability. Here, different cultures and languages are found in a geographic contiguity, as a result of several waves of migration and the succession of long- and short-term empires. However, historical documentation for this area is only partial, focusing predominantly on the recent empires, and linguistic surveys lack the power to fully elucidate the social context of the contact-induced changes. In this paper, we report Y-chromosomal data and complete mtDNA genome sequences for ten populations from Burkina Faso whose languages belong to two very distantly related branches of the Niger–Congo phylum, the Gur and Mande language families. In addition, two further populations, the Mande-speaking Mandenka from Senegal and the Yoruba from Nigeria, were included for regional comparison. We focus on the different historical trajectories undergone by the maternal and paternal lineages. Our results reveal a striking structure in the paternal line, which matches the linguistic affiliation of the ethnolinguistic groups, in contrast to the near-complete homogeneity of the populations in the maternal line. However, while the ancient structure along the linguistic lines is apparent in the Y-chromosomal haplogroup affiliation, this has clearly been overlain by more recent migrations, as shown by significant correlations between the genetic distances based on Y chromosome short tandem repeats and geographic distances between the populations, as well as by the patterns of shared haplotypes. Using the complete mtDNA sequences, we are able to reconstruct population size variation in the past, showing a strong sign of expansion in the concomitance with the Holocene Climate Optimum approximately 12,000–10,000 years ago, which has been suggested as the cause of the spread of the Niger–Congo phylum in the area. However, subsequent climatic fluctuations do not appear to have had an impact on the demography of the inhabitants of West Africa, probably reflecting the adaptive advantages of cultural innovations, such as pastoralism and agriculture.

Background: Multiparametric magnetic resonance imaging (mpMRI) has been increasingly used for prostate cancer (PCa). Recent studies identified distinct molecular subclasses of PCa with recurrent genomic alterations. However, the associations between molecular alterations in PCa and characteristics on mpMRI are unknown. Therefore, the objective of this study was to investigate recurrent molecular alterations in PCa and their associations with mpMRI features. Methods: Sixty-two PCa nodules >0.5 cm had a preoperative mpMRI. Nodules were evaluated for ERG rearrangement, PTEN deletion, SPINK1 overexpression, SPOP mutation and CHD1 deletion. Each PCa focus was matched to the corresponding location on mpMRI. Lesions were scored by single observer according to the PI-RADSv2 scale. Results: Of the 62 nodules, 22 (35.5%) were ERG positive, 6 (9.7%) had SPINK1 overexpression, 6 (9.7%) had SPOP mutations, 4 (6.5%) had CHD1 deletions and 1 (1.6%) had PTEN deletion. All of the nodules with CHD1 deletions were not visible on mpMRI ( P =0.037). All of the nodules with SPINK1 overexpression were visible on mpMRI, although the association was not statistically significant ( P =0.06). There were no significant associations between any molecular alteration with the severity of the PI-RADS scores (all P >0.05). Conclusions: This investigation represents the first description of an association between recurrent molecular alterations and the characterization of PCa nodules on mpMRI. This study can be considered hypothesis-generating for future studies to rigorously evaluate the association of specific PCa molecular subclasses with imaging features and potentially define specific subsets of PCa for which the utility of MRI is higher or lower.

This study sampled the diversity of Braconidae (Hymenoptera) in three different ecosystems: a degraded pasture, a secondary forest and an area in recovery process using native tree seedlings. The objective was to verify the use of those insects as a tool to check the local conservation by examining Shannon's diversity index. Ten subfamilies were identified, and Microgastrinae was predominant in a number of individuals. The diversity index calculated varies among the sampled areas, thus showing a correlation with vegetation cover with the number of individuals collected and number of subfamilies found. The results showed changes in the community of Braconidae, in the recovery area between the first and second year of study, thereby leading to the conclusion that they are indicators of environmental quality. Este estudo amostrou a diversidade de Braconidae (Hymenoptera) em três ecossistemas distintos: pastagem degradada, mata secundária e área em processo de recuperação com utilização de mudas de árvores nativas. O objetivo foi verificar a possibilidade de utilização desse grupo de insetos como ferramenta para identificar o estado de conservação local por meio da análise do índice de diversidade de Shannon. Foram identificadas dez subfamílias, com predominância em número de indivíduos de Microgastrinae. Os índices de diversidade calculados permitiram diferenciar as áreas amostradas, apresentando uma correlação da cobertura vegetal com o número de indivíduos coletados e o numero de subfamílias encontradas. O método evidenciou alteração na comunidade de Braconidae na área em recuperação, entre o primeiro e o segundo ano de estudo, demonstrando que são insetos indicadores de qualidade ambiental.

The seeing calculation and its evolution during the night is a key point for the operation of telescopes and adaptive optics systems. Currently, there are various instruments able to measure the seeing, for example, the DIMM (differential image motion monitor) and the MASS (multi aperture scintillation sensor). This paper describes a new tool for the local ground layer seeing measurement. In particular, we want to derive the Fried parameter r0 through a laser beam horizontal propagation. This is a new method for the experimental study of low-altitude atmospheric turbulence. Finally, we sketch an experimental setup for the Asiago Ekar Observatory and its possible applications.