Genetic Aspects of Myelodysplastic/Myeloproliferative Neoplasms

Citogenètica; Mutacions gèniques; Neoplàsies mielodisplàsiques/mieloproliferativesCytogenetics; Gene mutations; Myelodysplastic/myeloproliferative neoplasmsCitogenética; Mutaciones genéticas; Neoplasias mielodisplásicas/mieloproliferativasMyelodysplastic/myeloproliferative neoplasms (MDS/MPN) are myeloid neoplasms characterized by the presentation of overlapping features from both myelodysplastic syndromes and myeloproliferative neoplasms. Although the classification of MDS/MPN relies largely on clinical features and peripheral blood and bone marrow morphology, studies have demonstrated that a large proportion of patients (~90%) with this disease harbor somatic mutations in a group of genes that are common across myeloid neoplasms. These mutations play a role in the clinical heterogeneity of these diseases and their clinical evolution. Nevertheless, none of them is specific to MDS/MPN and current diagnostic criteria do not include molecular data. Even when such alterations can be helpful for differential diagnosis, they should not be used alone as proof of neoplasia because some of these mutations may also occur in healthy older people. Here, we intend to review the main genetic findings across all MDS/MPN overlap syndromes and discuss their relevance in the management of the patients.This research received no external funding

Mining heritage and proximity tourism: Exploring synergies. The case of Cardona

El nombre d’experiències de turisme de patrimoni miner a Espanya ha experimentat un notable creixement durant els darrers anys, fet que ha contribuït a revalorar un recurs que ha aconseguit fer-se un petit forat en un context turístic cada cop més competitiu. Simultàniament, va guanyant també acceptació el denominat turisme de proximitat, en la mesura que afavoreix la revaloració del patrimoni local per la mateixa població. Partint de la idea que ambdues formes de turisme són complementàries, és molt lògic voler trobar-hi sinergies. L’article analitza el cas concret del Parc Cultural de la Muntanya de Sal, a l’antiga localitat minera de Cardona (Catalunya). Tot i que amb matisos, les dades i l’anàlisi realitzada demostren que Cardona ha guanyat protagonisme en els últims anys en els àmbits del turisme de patrimoni i de proximitat, amb la consolidació de la seva oferta turística-minera.El número de experiencias de turismo de patrimonio minero en España ha experimentado un notable crecimiento durante los últimos años, contribuyendo con ello a revalorizar un recurso que ha conseguido hacerse un pequeño hueco en un contexto turístico cada vez más competitivo. Simultáneamente, también ha ido ganando aceptación el denominado turismo de proximidad, en la medida que favorece la revalorización del patrimonio local por la propia población. Partiendo de la idea de que ambas formas de turismo son complementarias, es muy lógico querer encontrar sinergias. El artículo analiza el caso concreto del Parque Cultural de la Montaña de Sal, en la antigua localidad minera de Cardona (Cataluña). Aunque con matices, los datos y el análisis realizado demuestran que Cardona ha ganado protagonismo en los últimos años en los ámbitos del turismo de patrimonio y de proximidad, con la consolidación de su oferta turística-minera.Le nombre d’expériences nationales de tourisme minier en Espagne a augmenté notablement ces dernières années. Cela a contribué à la mise en valeur de ces ressources, celles-ci ayant réussi à se faire une place dans un contexte touristique très compétitif. En même temps, le tourisme connu comme tourisme de proximité est de plus en plus reconnu. Cette forme touristique favorise la mise en valeur du patrimoine local par la population elle-même. Si l’on part de l’idée que les deux types de tourisme sont complémentaires, il est logique de tenter de trouver des synergies. L’article analyse le cas du Parc Culturel de la Montagne de Sel, dans la commune de Cardona (Catalogne), connue pour sa tradition minière. Les données et l’analyse réalisées montrent, avec des nuances, que Cardona a acquis de l’importance dans les domaines du tourisme culturel et de proximité ces dernières années, l’offre minière ayant notamment bénéficié de ce développement.The number of mining heritage tourism experiences in Spain has grown significantly in recent years, thereby contributing to reappraising a resource that has managed to create a small niche in an increasingly competitive tourism context. Simultaneously, the so-called “proximity tourism” has also been gaining acceptance, as it promotes the appreciation of heritage among local people. Based on the idea that both forms of tourism are complementary, this article attempts to identify the synergies between them. The article analyzes the specific case of the Salt Mountain Cultural Park in the old mining town of Cardona, Catalonia. Although with some nuances, the data and analysis show that Cardona has gained prominence in recent years in the sphere of heritage tourism and proximity tourism through the consolidation of its mining tourism offering

Fabrication and spectroscopy of high-quality Tm3+-doped germanate glass for 2 μm laser emission

A high-quality Tm-germanate glass was fabricated with homogeneous ions distribution. Spectroscopic characterization for pump and laser transitions as well as preliminary results on laser generation at 2 μm are reported

Optical and structural characterisation of epitaxial nanoporous GaN grown by CVD

In this paper we study the optical properties of nanoporous gallium nitride (GaN) epitaxial layers grown by chemical vapour deposition on non-porous GaN substrates, using photoluminescence, cathodoluminescence, and resonant Raman scattering, and correlate them with the structural characteristic of these films. We pay special attention to the analysis of the residual strain of the layers and the influence of the porosity in the light extraction. The nanoporous GaN epitaxial layers are under tensile strain, although the strain is progressively reduced as the deposition time and the thickness of the porous layer increases, becoming nearly strain free for a thickness of 1.7 μm. The analysis of the experimental data point to the existence of vacancy complexes as the main source of the tensile strain

The Release of Soluble Factors Contributing to Endothelial Activation and Damage after Hematopoietic Stem Cell Transplantation Is Not Limited to the Allogeneic Setting and Involves Several Pathogenic Mechanisms

AbstractThis study evaluated the relative impact of the intensity of the conditioning regimen and the alloreactivity in the endothelial dysfunction occurring after allogeneic hematopoietic stem cell transplantation (allo-HSCT). It involved a comparative analysis of the effect of incubating human umbilical vein endothelial cells (ECs) with serum samples from patients receiving autologous HSCT (auto-HSCT) or unrelated donor allo-HSCT. In both groups, blood samples were collected through a central line before conditioning (Pre), before transplantation (day 0), and at days 7, 14, and 21 after transplantation. Changes in the expression of EC receptors and adhesion proteins, adhesion of leukocytes and platelets under flow, and signaling pathways were analyzed. Endothelial activation and damage were observed in both groups, but with differing patterns. All markers of endothelial dysfunction demonstrated a progressive increase from day Pre to day 14 in the auto-HSCT group and exhibited 2 peaks of maximal expression (at days 0 and 21) in the allo-HSCT group. Both treatments induced a proinflammatory state (ie, expression of adhesion receptors, leukocyte adhesion, and p38 MAPK activation) and cell proliferation (ie, morphology and activation of ErK42/44). Prothrombotic changes (ie, von Willebrand factor expression and platelet adhesion) predominated after allo-HSCT, and a proapoptotic tendency (ie, activation of SAPK/JNK) was seen only in this group. These findings indicate that endothelial activation and damage after HSCT also occur in the autologous setting and affect macrovascular ECs. After the initial damage induced by the conditioning regimen, other factors, such as granulocyte colony-stimulating factor (G-CSF) toxicity, engraftment, and alloreactivity, may contribute to the endothelial damage seen during HSCT. Further studies are needed to explore the association between this endothelial damage and the vascular complications associated with HSCT

Scale adaptive simulation of unsteady cavitation flow around a plane convex hydrofoil with a semi-cylindrical obstacle

The present study focuses on the numerical simulation of unsteady cavitating flow around a plane-convex hydrofoil with a semi-cylindrical obstacle, which is based on the cavitationerosion experiment perform at LMH-EPFL using the vortex cavitation generator tunnel. The turbulence model k-¿ SST SAS method, which presents advantages in terms of computational consumption and reproduction of the phenomenon, has been applied in OpenFOAM version 4 to reproduce the unsteady behavior of cavitating flow. Additionally, the Zwart-Gerber-Belamri (ZGB) cavitation model has been applied, based on a previous work where this model was implemented in OpenFOAM. The model is based on Rayleigh Plesset equation, which considers small cavities with changes of void fraction for condensation and vaporization and using empirical calibration numbers based on previous research. Regarding the mesh development, the present work explores two configurations of grid mesh containing hexahedra (hex) and split-hexahedra (split-hex) automatically generated from triangulated surface geometries based on previous numerical studies. The aforementioned method aims to optimize computational demand and phenomenon reproducibility. Results show that the unsteady cavitating flows behavior has been reproduced with good accuracy and shows special details which are important for erosion studies in futures works.Peer ReviewedPostprint (published version

Synaptic activity-induced glycolysis facilitates membrane lipid provision and neurite outgrowth

The formation of neurites is an important process affecting the cognitive abilities of an organism. Neurite growth requires the addition of new membranes, but the metabolic remodeling necessary to supply lipids for membrane expansion is poorly understood. Here, we show that synaptic activity, one of the most important inducers of neurite growth, transcriptionally regulates the expression of neuronal glucose transporter Glut3 and rate-limiting enzymes of glycolysis, resulting in enhanced glucose uptake and metabolism that is partly used for lipid synthesis. Mechanistically, CREB regulates the expression of Glut3 and Siah2, the latter and LDH activity promoting the normoxic stabilization of HIF-1 alpha that regulates the expression of rate-limiting genes of glycolysis. The expression of dominant-negative HIF-1 alpha or Glut3 knockdown blocks activity-dependent neurite growth in vitro while pharmacological inhibition of the glycolysis and specific ablation of HIF-1 alpha in early postnatal mice impairs the neurite architecture. These results suggest that the manipulation of neuronal glucose metabolism could be used to treat some brain developmental disorders

Global estimates of human papillomavirus vaccination coverage by region and income level: a pooled analysis

Background: Since 2006, many countries have implemented publicly funded human papillomavirus (HPV) immunisation programmes. However, global estimates of the extent and impact of vaccine coverage are still unavailable. We aimed to quantify worldwide cumulative coverage of publicly funded HPV immunisation programmes up to 2014, and the potential impact on future cervical cancer cases and deaths. Methods: Between Nov 1 and Dec 22, 2014, we systematically reviewed PubMed, Scopus, and official websites to identify HPV immunisation programmes worldwide, and retrieved age-specific HPV vaccination coverage rates up to October, 2014. To estimate the coverage and number of vaccinated women, retrieved coverage rates were converted into birth-cohort-specific rates, with an imputation algorithm to impute missing data, and applied to global population estimates and cervical cancer projections by country and income level. Findings: From June, 2006, to October, 2014, 64 countries nationally, four countries subnationally, and 12 overseas territories had implemented HPV immunisation programmes. An estimated 118 million women had been targeted through these programmes, but only 1% were from low-income or lower-middle-income countries. 47 million women (95% CI 39-55 million) received the full course of vaccine, representing a total population coverage of 1.4% (95% CI 1.1-1.6), and 59 million women (48-71 million) had received at least one dose, representing a total population coverage of 1.7% (1.4-2.1). In more developed regions, 33.6% (95% CI 25.9-41.7) of females aged 10-20 years received the full course of vaccine, compared with only 2.7% (1.8-3.6) of females in less developed regions. The impact of the vaccine will be higher in upper-middle-income countries (178 192 averted cases by age 75 years) than in high-income countries (165 033 averted cases), despite the lower number of vaccinated women (13.3 million vs 32.2 million). Interpretation Many women from high-income and upper-middle-income countries have been vaccinated against HPV. However, populations with the highest incidence and mortality of disease remain largely unprotected. Rapid roll-out of the vaccine in low-income and middle-income countries might be the only feasible way to narrow present inequalities in cervical cancer burden and prevention

Electrode surface treatments in sludge electro-osmosis dewatering

open12siThe sewage sludge dewatering produced by wastewater treatment plants (WWTP) is a multifaceted process due to the presence of colloid fractions. Electro-osmosis could be a suitable technique to reduce the water content of the final sludge. Electric fields of 10, 15, and 20 V/cm have been studied for electro-osmosis tests under the pressure of a static or rotating piston, obtaining a dry solids content up to 40–45%, with respect to 25–30% obtained by mechanical methods. In order to optimize the process, the corrosion behavior and the wear of the anodic material appear to be the main critical aspects, due to the high circulating current density and the use of a rotating electrode. We compared the efficiency and the corrosion resistance of dimensionally stable anodes (DSA) with respect to bare stainless steel (AISI 304) and stainless steel coated by PVD technique with TiN, AlTiN, and DLC. Characterization of the anode surfaces by SEM and potentiodynamic tests show that DSA is the most suitable material for our application. However, efficiencies of the electro-osmosis processes have been found comparable, in terms of developed current densities and total energy consumptions, for short-test duration.openGronchi, Paolo; Canziani, Roberto; Brenna, Andrea; Visigalli, Simone; Colominas, Carles; Montalà, Francesc; Cot, Victor; Stradi, Aristide; Ferrari, Giancarlo; Diaz, Cristina; Fuentes, Gonzalo Garcia; Georgiadis, ArgyriosGronchi, Paolo; Canziani, Roberto; Brenna, Andrea; Visigalli, Simone; Colominas, Carles; Montalà, Francesc; Cot, Victor; Stradi, Aristide; Ferrari, Giancarlo; Diaz, Cristina; Fuentes, Gonzalo Garcia; Georgiadis, Argyrio

Dy3+- and Pr3+-doped phosphate glass optical fibres for laser emission at visible wavelengths

Visible lasers find applications in many fields such as medicine, materials processing, display and entertainment technology, microscopy and scientific research