58 research outputs found

    Myelodysplastic syndromes: advantages of a combined cytogenetic and molecular diagnostic workup

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    In this study we present a new diagnostic workup for the myelodysplastic syndromes (MDS) including FISH, aCGH, and somatic mutation assays in addition to the conventional cytogenetics (CC). We analyzed 61 patients by CC, FISH for chromosome 5, 7, 8 and PDGFR rearrangements, aCGH, and PCR for ASXL1, EZH2, TP53, TET2, RUNX1, DNMT3A, SF3B1 somatic mutations. Moreover, we quantified WT1 and RPS14 gene expression levels, in order to find their possible adjunctive value and their possible clinical impact. CC analysis showed 32% of patients with at least one aberration. FISH analysis detected chromosomal aberrations in 24% of patients and recovered 5 cases (13.5%) at normal karyotype (two 5q- syndromes, one del(7) case, two cases with PDGFR rearrangement). The aGCH detected 10 "new" unbalanced cases in respect of the CC, including one with alteration of the ETV6 gene. After mutational analysis, 33 patients (54%) presented at least one mutation and represented the only marker of clonality in 36% of all patients. The statistical analysis confirmed the prognostic role of CC either on overall or on progression-free-survival. In addition, deletions detected by aCGH and WT1 over-expression negatively conditioned survival. In conclusion, our work showed that 1) the addition of FISH (at least for chr. 5 and 7) can improve the definition of the risk score; 2) mutational analysis, especially for the TP53 and SF3B1, could better define the type of MDS and represent a "clinical warning"; 3) the aCGH use could be probably applied to selected cases (with suboptimal response or failure)

    Adapting Agriculture to Climate Change: A Synopsis of Coordinated National Crop Wild Relative Seed Collecting Programs across Five Continents

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    The Adapting Agriculture to Climate Change Project set out to improve the diversity, quantity, and accessibility of germplasm collections of crop wild relatives (CWR). Between 2013 and 2018, partners in 25 countries, heirs to the globetrotting legacy of Nikolai Vavilov, undertook seed collecting expeditions targeting CWR of 28 crops of global significance for agriculture. Here, we describe the implementation of the 25 national collecting programs and present the key results. A total of 4587 unique seed samples from at least 355 CWR taxa were collected, conserved ex situ, safety duplicated in national and international genebanks, and made available through the Multilateral System (MLS) of the International Treaty on Plant Genetic Resources for Food and Agriculture (Plant Treaty). Collections of CWR were made for all 28 targeted crops. Potato and eggplant were the most collected genepools, although the greatest number of primary genepool collections were made for rice. Overall, alfalfa, Bambara groundnut, grass pea and wheat were the genepools for which targets were best achieved. Several of the newly collected samples have already been used in pre-breeding programs to adapt crops to future challenges.info:eu-repo/semantics/publishedVersio

    Outcomes from elective colorectal cancer surgery during the SARS-CoV-2 pandemic

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    This study aimed to describe the change in surgical practice and the impact of SARS-CoV-2 on mortality after surgical resection of colorectal cancer during the initial phases of the SARS-CoV-2 pandemic

    In vivo restoration and volumetric body mass estimate of Mammuthus meridionalis from Madonna della Strada (Scoppito, L’Aquila)

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    In this contribution we present an in vivo reconstruction and volumetric body mass estimate for the mounted skeleton of Mammuthus meridionalis on exhibit at the east bastion of the Spanish Fortress at L’Aquila (Abruzzo, Central Italy). The reconstruction has been obtained starting from a 3D photogrammetric model of the skeleton acquired via a micro-drones and by digitally adding a percentage of soft tissues according to the conditions observed in wild specimens. By applying to the volume the density range proposed in literature for extant proboscideans we obtain an estimate of the body mass in the adult male specimen ranging from 11.3 t to 11.5 t, with average body mass equal to 11.43 t. In addition, we compare the volumetric BM estimate with the BM predictive values obtained by means of traditional regression equations based on long bones linear dimension and shoulder height. The results confirm that the volumetric method is always preferable if sufficiently complete mounted skeletons are available, since application of regression formulas to single bony element can lead to an underestimation or overestimation up to 130%. As a general indication, weight estimates in extinct tetrapods based on single measures and single bones should be totally avoided, especially in groups morphologically and phylogenetically distant from extant reference taxa

    Mammuthus meridionalis di Madonna della Strada (Scoppito, L'Aquila): Diagnostica e restauro.

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    The skeleton of Mammuthus meridionalis (Nesti, 1825), found in 1954 at Madonna della Strada (Scoppito, L\u2019Aquila, central Italy) and exhibited since 1960 in the Spanish Fortress in L\u2019Aquila, has recently undergone a complex diagnostic and restoration project funded by the \u201cGuardia di Finanza\u201d as a contribution to the reconstruction of the city of L\u2019Aquila after the earthquake of 6 April 2009. The specimen was only slightly damaged by the seismic event. The restoration based on a highly integrated multidisciplinary approach, began with a preliminary diagnostic analysis in order to acquire information on the state of preservation of the skeleton and on the dynamic behaviour of the metal supporting frame-skeleton assembly. The restoration was carried out by combining the most common techniques applied in Palaeontology with the most advanced techniques used for the restoration of cultural artefacts. The painstaking restoration enabled the original shape of the skeleton to be restored, revealing the actual shape of the skull and its pathological modifications. Before reassembling the skeleton, a new, correct posture was also defined

    Characteristics of forage and feeding behavior of Nellore heifers fed hydrolyzed sugarcane

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    The objective of this study was to evaluate the chemical characteristics of the forage and ingestive behavior of Nellore heifers fed hydrolyzed sugarcane in different periods of storage. Twenty-four heifers with initial body weight of 119.6±8.1 kg were utilized. The experimental design was completely randomized, in which the treatments were diets with fresh sugarcane and hydrolyzed sugarcane (5 g of lime kg-1 of chopped sugarcane) stored for 24, 48 or 72 hours as the only roughage. The addition of lime to sugarcane associated with its storage up to 72 hours provided an increase of 20% of the potentially degradable cell wall of carbohydrates, from 382.4 to 458.8 g kg-1 of total carbohydrates. The in vitro digestibility of dry matter was altered by the storage of hydrolyzed sugarcane, increasing 7.08% when the storage time was increased from 24 to 72 hours. Heifers fed fresh sugarcane remained more time consuming compared with heifers fed other diets. The time used for water intake was not influenced by the diet. The rumination time presented a quadratic variation in relation to storage time of the hydrolyzed sugarcane, with higher values for the of hydrolyzed sugarcane diets stored for 48 hours. Heifers fed hydrolyzed sugarcane spent more time on other activities than those fed fresh sugarcane. The supply of hydrolyzed sugarcane stored up to 72 hours in the proportion of 600 g kg-1 of dry matter in the diet, alters the intake patterns, reducing the feed intake in Nellore heifers
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