Environmental genomics of "Haloquadratum walsbyi" in a saltern crystallizer indicates a large pool of accessory genes in an otherwise coherent species

BACKGROUND: Mature saturated brine (crystallizers) communities are largely dominated (>80% of cells) by the square halophilic archaeon "Haloquadratum walsbyi". The recent cultivation of the strain HBSQ001 and thesequencing of its genome allows comparison with the metagenome of this taxonomically simplified environment. Similar studies carried out in other extreme environments have revealed very little diversity in gene content among the cell lineages present. RESULTS: The metagenome of the microbial community of a crystallizer pond has been analyzed by end sequencing a 2000 clone fosmid library and comparing the sequences obtained with the genome sequence of "Haloquadratum walsbyi". The genome of the sequenced strain was retrieved nearly complete within this environmental DNA library. However, many ORF's that could be ascribed to the "Haloquadratum" metapopulation by common genome characteristics or scaffolding to the strain genome were not present in the specific sequenced isolate. Particularly, three regions of the sequenced genome were associated with multiple rearrangements and the presence of different genes from the metapopulation. Many transposition and phage related genes were found within this pool which, together with the associated atypical GC content in these areas, supports lateral gene transfer mediated by these elements as the most probable genetic cause of this variability. Additionally, these sequences were highly enriched in putative regulatory and signal transduction functions. CONCLUSION: These results point to a large pan-genome (total gene repertoire of the genus/species) even in this highly specialized extremophile and at a single geographic location. The extensive gene repertoire is what might be expected of a population that exploits a diverse nutrient pool, resulting from the degradation of biomass produced at lower salinities

Integrated phased array transducer for on-board structural health monitoring

Permanently bonded onto a structure, an integrated Phased Array (PhA II) transducer that can provide reliable electromechanical connection with corresponding sophisticated miniaturized ?all in one? SHM electronic device installed directly above it, without need for any interface cabling, during all aerospace structure lifecycle phases and for a huge variety of real harsh service environments of structures to be monitored is presented. This integrated PhA II transducer [1], as a key component of the PAMELA SHM? (Phased Array Monitoring for Enhanced Life Assessment) system, has two principal tasks at the same time, reliably transceive elastic waves in real aerospace service environments and serves as a reliable sole carrier or support for associated integrated on-board SHM electronic device attached above. The PhA II transducer successfully accomplished both required task throughout extensive test campaigns which included low to high temperature tests, temperature cycling, mechanical loading, combined thermo- mechanical loading and vibration resistance, etc. both with and without SHM device attached above due to RTCA DO-160F

A de novo complete BRCA1 gene deletion identified in a Spanish woman with early bilateral breast cancer

<p>Abstract</p> <p>Background</p> <p>Germline mutations in either of the two tumor-suppressor genes, <it>BRCA1 </it>and <it>BRCA2</it>, account for a significant proportion of hereditary breast and ovarian cancer cases. Most of these mutations consist of deletions, insertions, nonsense mutations, and splice variants, however an increasing number of large genomic rearrangements have been identified in these genes.</p> <p>Methods</p> <p>We analysed <it>BRCA1 </it>and <it>BRCA2 </it>genes by direct sequencing and MLPA. We confirmed the results by an alternative MLPA kit and characterized the <it>BRCA1 </it>deletion by Array CGH.</p> <p>Results</p> <p>We describe the first case of a patient with no strong family history of the disease who developed early-onset bilateral breast cancer with a <it>de novo </it>complete <it>BRCA1 </it>gene deletion in the germinal line. The detected deletion started from the region surrounding the <it>VAT1 </it><it>locus </it>to the beginning of <it>NBR1 </it>gene, including the <it>RND2</it>, Ψ<it>BRCA1</it>, <it>BRCA1 </it>and <it>NBR2 </it>complete genes.</p> <p>Conclusion</p> <p>This finding supports the large genomic rearrangement screening of <it>BRCA </it>genes in young breast cancer patients without family history, as well as in hereditary breast and ovarian cancer families previously tested negative for other variations.</p

Structural health monitoring network system with wireless communications inside closed aerospace structures

Structural Health Monitoring (SHM) requires integrated "all in one" electronic devices capable of performing analysis of structural integrity and on-board damage detection in aircraft?s structures. PAMELA III (Phased Array Monitoring for Enhanced Life Assessment, version III) SHM embedded system is an example of this device type. This equipment is capable of generating excitation signals to be applied to an array of integrated piezoelectric Phased Array (PhA) transducers stuck to aircraft structure, acquiring the response signals, and carrying out the advanced signal processing to obtain SHM maps. PAMELA III is connected with a host computer in order to receive the configuration parameters and sending the obtained SHM maps, alarms and so on. This host can communicate with PAMELA III through an Ethernet interface. To avoid the use of wires where necessary, it is possible to add Wi-Fi capabilities to PAMELA III, connecting a Wi-Fi node working as a bridge, and to establish a wireless communication between PAMELA III and the host. However, in a real aircraft scenario, several PAMELA III devices must work together inside closed structures. In this situation, it is not possible for all PAMELA III devices to establish a wireless communication directly with the host, due to the signal attenuation caused by the different obstacles of the aircraft structure. To provide communication among all PAMELA III devices and the host, a wireless mesh network (WMN) system has been implemented inside a closed aluminum wingbox. In a WMN, as long as a node is connected to at least one other node, it will have full connectivity to the entire network because each mesh node forwards packets to other nodes in the network as required. Mesh protocols automatically determine the best route through the network and can dynamically reconfigure the network if a link drops out. The advantages and disadvantages on the use of a wireless mesh network system inside closed aerospace structures are discussed

Efficacy of teriparatide compared with risedronate on FRAX®-defined major osteoporotic fractures. results of the VERO clinical trial

Summary: FRAX® calculates the 10-year probability of major osteoporotic fractures (MOF), which are considered to have a greater clinical impact than other fractures. Our results suggest that, in postmenopausal women with severe osteoporosis, those treated with teriparatide had a 60% lower risk of FRAX®-defined MOF compared with those treated with risedronate. Introduction: The VERO trial was an active-controlled fracture endpoint clinical trial that enrolled postmenopausal women with severe osteoporosis. After 24 months, a 52% reduction in the hazard ratio (HR) of clinical fractures was reported in patients randomized to teriparatide compared with risedronate. We examined fracture results restricted to FRAX®-defined major osteoporotic fractures (MOF), which include clinical vertebral, hip, humerus, and forearm fractures. Methods: In total, 1360 postmenopausal women (mean age 72.1 years) were randomized to receive subcutaneous daily teriparatide (20 μg) or oral weekly risedronate (35 mg). Patient cumulative incidence of ≥ 1 FRAX®-defined MOF and of all clinical fractures were estimated by Kaplan-Meier analyses, and the comparison between treatments was based on the stratified log-rank test. Additionally, an extended Cox model was used to estimate HRs at different time points. Incidence fracture rates were estimated at each 6-month interval. Results: After 24 months, 16 (2.6%) patients in the teriparatide group had ≥ 1 low trauma FRAX®-defined MOF compared with 40 patients (6.4%) in the risedronate group (HR 0.40; 95% CI 0.23–0.68; p = 0.001). Clinical vertebral and radius fractures were the most frequent FRAX®-defined MOF sites. The largest difference in incidence rates of both FRAX®-defined MOF and all clinical fractures between treatments occurred during the 6- to 12-month period. There was a statistically significant reduction in fractures between groups as early as 7 months for both categories of clinical fractures analyzed. Conclusion: In postmenopausal women with severe osteoporosis, treatment with teriparatide was more efficacious than risedronate, with a 60% lower risk of FRAX®-defined MOF during the 24-month treatment period. Fracture risk was statistically significantly reduced at 7 months of treatment. Clinical trial information: ClinicalTrials.gov Identifier: NCT01709110 EudraCT Number: 2012-000123-41

Upregulation of NKG2D ligands impairs hematopoietic stem cell function in Fanconi anemia

Altres ajuts: Fondo Europeo de Desarrollo Regional (FEDER); Next Generation EU; EUROFANCOLEN); Comunidad de Madrid (AvanCell, B2017/BMD-3692); ICREA-Academia program.Fanconi anemia (FA) is the most prevalent inherited bone marrow failure (BMF) syndrome. Nevertheless, the pathophysiological mechanisms of BMF in FA have not been fully elucidated. Since FA cells are defective in DNA repair, we hypothesized that FA hematopoietic stem and progenitor cells (HSPCs) might express DNA damage-associated stress molecules such as natural killer group 2 member D ligands (NKG2D-Ls). These ligands could then interact with the activating NKG2D receptor expressed in cytotoxic NK or CD8+ T cells, which may result in progressive HSPC depletion. Our results indeed demonstrated upregulated levels of NKG2D-Ls in cultured FA fibroblasts and T cells, and these levels were further exacerbated by mitomycin C or formaldehyde. Notably, a high proportion of BM CD34+ HSPCs from patients with FA also expressed increased levels of NKG2D-Ls, which correlated inversely with the percentage of CD34+ cells in BM. Remarkably, the reduced clonogenic potential characteristic of FA HSPCs was improved by blocking NKG2D-NKG2D-L interactions. Moreover, the in vivo blockage of these interactions in a BMF FA mouse model ameliorated the anemia in these animals. Our study demonstrates the involvement of NKG2D-NKG2D-L interactions in FA HSPC functionality, suggesting an unexpected role of the immune system in the progressive BMF that is characteristic of FA

2D-Tasks for Cognitive Rehabilitation

Neuropsychological Rehabilitation is a complex clinic process which tries to restore or compensate cognitive and behavioral disorders in people suffering from a central nervous system injury. Information and Communication Technologies (ICTs) in Biomedical Engineering play an essential role in this field, allowing improvement and expansion of present rehabilitation programs. This paper presents a set of cognitive rehabilitation 2D-Tasks for patients with Acquired Brain Injury (ABI). These tasks allow a high degree of personalization and individualization in therapies, based on the opportunities offered by new technologies

Measurement of the cross-section and charge asymmetry of WW bosons produced in proton-proton collisions at s=8\sqrt{s}=8 TeV with the ATLAS detector

This paper presents measurements of the $W^+ \rightarrow \mu^+\nu$ and $W^- \rightarrow \mu^-\nu$ cross-sections and the associated charge asymmetry as a function of the absolute pseudorapidity of the decay muon. The data were collected in proton--proton collisions at a centre-of-mass energy of 8 TeV with the ATLAS experiment at the LHC and correspond to a total integrated luminosity of 20.2~\mbox{fb^{-1}}. The precision of the cross-section measurements varies between 0.8% to 1.5% as a function of the pseudorapidity, excluding the 1.9% uncertainty on the integrated luminosity. The charge asymmetry is measured with an uncertainty between 0.002 and 0.003. The results are compared with predictions based on next-to-next-to-leading-order calculations with various parton distribution functions and have the sensitivity to discriminate between them.Comment: 38 pages in total, author list starting page 22, 5 figures, 4 tables, submitted to EPJC. All figures including auxiliary figures are available at https://atlas.web.cern.ch/Atlas/GROUPS/PHYSICS/PAPERS/STDM-2017-13

Search for chargino-neutralino production with mass splittings near the electroweak scale in three-lepton final states in √s=13 TeV pp collisions with the ATLAS detector

A search for supersymmetry through the pair production of electroweakinos with mass splittings near the electroweak scale and decaying via on-shell W and Z bosons is presented for a three-lepton final state. The analyzed proton-proton collision data taken at a center-of-mass energy of √s=13  TeV were collected between 2015 and 2018 by the ATLAS experiment at the Large Hadron Collider, corresponding to an integrated luminosity of 139  fb−1. A search, emulating the recursive jigsaw reconstruction technique with easily reproducible laboratory-frame variables, is performed. The two excesses observed in the 2015–2016 data recursive jigsaw analysis in the low-mass three-lepton phase space are reproduced. Results with the full data set are in agreement with the Standard Model expectations. They are interpreted to set exclusion limits at the 95% confidence level on simplified models of chargino-neutralino pair production for masses up to 345 GeV