Detection of kinase domain mutations in BCR::ABL1 leukemia by ultra-deep sequencing of genomic DNA

The screening of the BCR::ABL1 kinase domain (KD) mutation has become a routine analysis in case of warning/failure for chronic myeloid leukemia (CML) and B-cell precursor acute lymphoblastic leukemia (ALL) Philadelphia (Ph)-positive patients. In this study, we present a novel DNA-based next-generation sequencing (NGS) methodology for KD ABL1 mutation detection and monitoring with a 1.0E−4 sensitivity. This approach was validated with a well-stablished RNA-based nested NGS method. The correlation of both techniques for the quantification of ABL1 mutations was high (Pearson r = 0.858, p < 0.001), offering DNA-DeepNGS a sensitivity of 92% and specificity of 82%. The clinical impact was studied in a cohort of 129 patients (n = 67 for CML and n = 62 for B-ALL patients). A total of 162 samples (n = 86 CML and n = 76 B-ALL) were studied. Of them, 27 out of 86 harbored mutations (6 in warning and 21 in failure) for CML, and 13 out of 76 (2 diagnostic and 11 relapse samples) did in B-ALL patients. In addition, in four cases were detected mutation despite BCR::ABL1 < 1%. In conclusion, we were able to detect KD ABL1 mutations with a 1.0E−4 sensitivity by NGS using DNA as starting material even in patients with low levels of disease.Tis project was funded in part by CRIS CANCER FOUNDATION

BIM aplicado al patrimonio cultural

La asociación buildingSMART tiene como principal objetivo fomentar la eficacia en el sector de la construcción a través del uso de estándares abiertos de interoperabilidad con la metodología BIM (Building InformationMode-ling). Para ello, cuenta con una estructura de grupos de trabajo a nivel internacional para abordar diferentes cues-tiones al respecto. Sin embargo, en el ámbito del Patrimonio Cultural, no existe en la actualidad una aproximación internacional sobre el uso de BIM, y es por lo que buildingSMART Spanish Chapter ha puesto en marcha un grupo de trabajo abierto, denominado LEGEND–HBIM, y que está centrado en BIM aplicado al Patrimonio Cultural. De este modo, buildingSMART Spanish Chapter continua la laborde promover el uso de la metodología BIM a través de guías como esta, que supone una continuación de las guías uBIM publicadas en el año 2014

Clonal chromosomal mosaicism and loss of chromosome Y in elderly men increase vulnerability for SARS-CoV-2

The pandemic caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2, COVID-19) had an estimated overall case fatality ratio of 1.38% (pre-vaccination), being 53% higher in males and increasing exponentially with age. Among 9578 individuals diagnosed with COVID-19 in the SCOURGE study, we found 133 cases (1.42%) with detectable clonal mosaicism for chromosome alterations (mCA) and 226 males (5.08%) with acquired loss of chromosome Y (LOY). Individuals with clonal mosaic events (mCA and/or LOY) showed a 54% increase in the risk of COVID-19 lethality. LOY is associated with transcriptomic biomarkers of immune dysfunction, pro-coagulation activity and cardiovascular risk. Interferon-induced genes involved in the initial immune response to SARS-CoV-2 are also down-regulated in LOY. Thus, mCA and LOY underlie at least part of the sex-biased severity and mortality of COVID-19 in aging patients. Given its potential therapeutic and prognostic relevance, evaluation of clonal mosaicism should be implemented as biomarker of COVID-19 severity in elderly people. Among 9578 individuals diagnosed with COVID-19 in the SCOURGE study, individuals with clonal mosaic events (clonal mosaicism for chromosome alterations and/or loss of chromosome Y) showed an increased risk of COVID-19 lethality

La conservación preventiva de las obras de arte

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Contribution to the characterization of vibration isolators based on metal mesh

The prediction of the behavior of vibration isolators is essential for effective and efficient design of these devices, as well as for accurately characterizing the isolator behavior. In this work, an experimental study was performed to characterize the behavior of metal-mesh isolators. Although these elements’ performance is of great interest because of their usage in several applications, their characterization is complex due to their nonlinear nature, among other factors. This study’s aim was to obtain the quasi-static behavior of these isolators, although dynamic tests are required for their complete characterization. These quasi-static tests allowed for the highlighting of some characteristics in a simpler and faster manner and also provided a starting point for designing future dynamic tests. The quasi-static tests performed resulted in the calculation of the hysteresis cycle under different operating conditions and manufacturing parameters. The study of different insulator characteristics, such as the energy dissipation coefficient and stiffness, led to interesting conclusions about the isolator performance. From the results, it was observed that the relative density affected most the nonlinear behavior of the insulator. Moreover, to correctly characterize their behavior, not only the Coulomb’s damping but also the viscous damping had to be considered.This research was funded by PID2020-116572RA-I00/AEI/10.13039/501100011033

Limits of BOTDA Range Extension Techniques

Brillouin-based temperature and strain sensors have attracted great attention of both the academic and industrial sectors in the past few decades due to their ability to perform distributed measurements. In particular, Brillouin optical time-domain analysis (BOTDA) systems have been applied in many different scenarios, proving particularly useful in those requiring especially wide coverage ranging extremely long distances, such as in civil structure monitoring, energy transportation, or environmental applications. The extension of the measuring range in these sensors has, therefore, become one of the main areas of research and development around BOTDA. To do so, it is necessary to increase the signal-to-noise ratio of the retrieved signal. So far, several techniques have been applied in order to achieve this goal, such as preamplification before detection, pulse coding, or Raman amplification. Here, we analyze these techniques in terms of their performance limits and provide guidelines that can assist in finding out which is the best configuration to break current range limitations. Our analysis is based on physical arguments as well as current literature results. © 2016, IEEEPeer Reviewe

SEOM Clinical Guideline of management of soft-tissue sarcoma (2020)

Soft-tissue sarcomas constitute an uncommon and heterogeneous group of tumors of mesenchymal origin. Diagnosis, treatment, and management should be performed by an expert multidisciplinary team. MRI/CT of the primary tumor and biopsy is mandatory before any treatment. Wide surgical resection with tumor-free tissue margin is the mainstay for localized disease. Radiotherapy is indicated in large, deep, high-grade tumors, or after marginal resection not suitable for re-excision. Perioperative chemotherapy should be discussed for high-risk sarcomas of the extremities and trunk-wall. In the case of oligometastatic disease, patients should be considered for local therapies. First-line treatment with anthracyclines (or in combination with ifosfamide) is the treatment of choice. Other drugs have shown activity in second-line therapy and in specific histological subtypes but options are limited and thus, a clinical trial should always be discussed

Nonlinear Dynamics and Fiber Optics Group at Instituto de Óptica “Daza de Valdes del CSIC: Experimental research lines

11 pags., 10 figs. -- Ejemplar dedicado a: Óptica no lineaSe presenta y describen las líneas de trabajo experimentales que se vienen cultivando en el Grupo de investigación en Dinámica no Lineal y Fibras ópticas, recientemente creado en el Instituto de Óptica del CSIC.We present the experimental lines developed in last years in the Nonlinear Dynamics and Fiber Optics Group (NDFO) of the Optics Institute “Daza de Valdés” (IO-CSIC).Agradecemos la ayuda al Ministerio de Ciencia y Tecnología a través de los proyectos TEC2009- 14423-C02-01, TEC2009-14423-C02-02 y TEC2008-5791, al Ministerio de Fomento a través del proyecto MIFFO (FOM-07/77) y de la Comunidad de Madrid a través del proyecto FACTOTEM2 (S2009/ESP-1781). S. MartinLópez y J. Nuño agradecen al Ministerio de Ciencia y Tecnología por su contrato “Juan de la Cierva” y beca FPI, respectivamente. Xabier Angulo-Vinuesa agradece el apoyo económico de ICYF S.A.Peer reviewe