CIBERER : Spanish national network for research on rare diseases: A highly productive collaborative initiative

Altres ajuts: Instituto de Salud Carlos III (ISCIII); Ministerio de Ciencia e Innovación.CIBER (Center for Biomedical Network Research; Centro de Investigación Biomédica En Red) is a public national consortium created in 2006 under the umbrella of the Spanish National Institute of Health Carlos III (ISCIII). This innovative research structure comprises 11 different specific areas dedicated to the main public health priorities in the National Health System. CIBERER, the thematic area of CIBER focused on rare diseases (RDs) currently consists of 75 research groups belonging to universities, research centers, and hospitals of the entire country. CIBERER's mission is to be a center prioritizing and favoring collaboration and cooperation between biomedical and clinical research groups, with special emphasis on the aspects of genetic, molecular, biochemical, and cellular research of RDs. This research is the basis for providing new tools for the diagnosis and therapy of low-prevalence diseases, in line with the International Rare Diseases Research Consortium (IRDiRC) objectives, thus favoring translational research between the scientific environment of the laboratory and the clinical setting of health centers. In this article, we intend to review CIBERER's 15-year journey and summarize the main results obtained in terms of internationalization, scientific production, contributions toward the discovery of new therapies and novel genes associated to diseases, cooperation with patients' associations and many other topics related to RD research

CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative

13 páginas,1 figura, 3 tablas, 1 apéndice. Se extraen los autores pertenecientes a The CIBERER network que trabajan en Centros del CSIC del Appendix ACIBER (Center for Biomedical Network Research; Centro de Investigación Biomédica En Red) is a public national consortium created in 2006 under the umbrella of the Spanish National Institute of Health Carlos III (ISCIII). This innovative research structure comprises 11 different specific areas dedicated to the main public health priorities in the National Health System. CIBERER, the thematic area of CIBER focused on rare diseases (RDs) currently consists of 75 research groups belonging to universities, research centers, and hospitals of the entire country. CIBERER's mission is to be a center prioritizing and favoring collaboration and cooperation between biomedical and clinical research groups, with special emphasis on the aspects of genetic, molecular, biochemical, and cellular research of RDs. This research is the basis for providing new tools for the diagnosis and therapy of low-prevalence diseases, in line with the International Rare Diseases Research Consortium (IRDiRC) objectives, thus favoring translational research between the scientific environment of the laboratory and the clinical setting of health centers. In this article, we intend to review CIBERER's 15-year journey and summarize the main results obtained in terms of internationalization, scientific production, contributions toward the discovery of new therapies and novel genes associated to diseases, cooperation with patients' associations and many other topics related to RD research.This study has been funded by Instituto de Salud Carlos III (ISCIII) and Spanish Ministry of Science and InnovationPeer reviewe

A Software Defined Hierarchical Communication and Data Management Architecture for Industry 4.0

The Industry 4.0 paradigm alludes to a new industrial revolution where factories evolve towards digitalized and networked structures where intelligence is spread among the different elements of the production systems. Two key technological enablers to achieve the flexibility and efficiency sought for factories of the future are the communication networks and the data management schemes that will support connectivity and data distribution in Cyber-Physical Production Systems. Communications and data management must be built upon a flexible and reliable architecture to be able to efficiently meet the stringent and varying requirements in terms of latency, reliability and data rates demanded by industrial applications, and with particular attention on time-critical automation. To this aim, this paper proposes the use of heterogeneous communication technologies integrated in a hierarchical communications and data management architecture where decentralized and local management decisions are coordinated by a central orchestrator that ensures the efficient global operation of the system. Industrial applications are organized in different tiers where different management strategies are applied to satisfy their different requirements in terms of latency and reliability. The use of virtualization and softwarization technologies as RAN Slicing and Cloud RAN will allow to achieve the flexibility, scalability and adaptation capabilities required to support the high-demanding and diverse industrial environmentThis work has been funded by the European Commission through the FoF-RIA Project AUTOWARE: Wireless Autonomous, Reliable and Resilient Production Operation Architecture for Cognitive Manufacturing (No. 723909)

Cytotoxic effects induced by combination of heliantriol B2 and dequalinium against human leukemic cell lines

Natural occurring compounds are considered an important source of antitumoral agents. In the present study, the cytotoxic potential of three pentacyclic triterpenes isolated from Chuquiraga erinacea (Asteraceae), against the human leukemic cell lines NB4 and K562 was assessed. Heliantriol B2 (HB2) showed the highest cytotoxic activity after 24 h treatment showing IC 50 values of 1.98 ± 0.12 μm and 3.52 ± 0.14 μm for NB4 and K562 cells, respectively. This activity was higher than that of the reference compound dequalinium (DQA). Apoptosis and necrosis induced by HB2 in both NB4 and K562 cell lines were analysed by Annexin V/PI labeling. Mitochondrial alterations including reactive oxygen species (ROS) production and mitochondrial transmembrane potential (Δψm) were also tested. The results demonstrated that HB2 induced cell death by apoptosis and necrosis and showed enhanced cytotoxic effects in combination with DQA. Besides, HB2 induced ROS overproduction in NB4 cells and a slight decrease of Δψm. Consequently, our findings prompt further studies on the HB2 mechanism of action and its selectivity to tumor cells in order to assess the potential of HB2 as an agent for cancer treatment. Copyright © 2010 John Wiley & Sons, Ltd.Fil: Vela Gurovic, Maria Soledad. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Bahía Blanca. Instituto de Química del Sur. Universidad Nacional del Sur. Departamento de Química. Instituto de Química del Sur; Argentina. Universidad de Alcalá; EspañaFil: Díaz Lanza, A. María. Universidad de Alcalá; EspañaFil: Boyano Adánez, María Del Carmen. Universidad de Alcalá; EspañaFil: Estañ Omaña, M. Cristina. Universidad de Alcalá; EspañaFil: Gañán Gõmez, Irene. Universidad de Alcalá; EspañaFil: Murray, Ana Paula. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Bahía Blanca. Instituto de Química del Sur. Universidad Nacional del Sur. Departamento de Química. Instituto de Química del Sur; ArgentinaFil: Sancho Lõpez, Pilar. Universidad de Alcalá; Españ

The effect of high-volume online haemodiafiltration on nutritional status and body composition: the ProtEin Stores prEservaTion (PESET) study

Background. Compared with conventional haemodialysis (HD), online haemodiafiltration (OL-HDF) achieves a more efficient removal of uraemic toxins and reduces inflammation, which could favourably affect nutritional status. We evaluate the effect of OL-HDF on body composition and nutritional status in prevalent high-flux HD (HF-HD) patients. Methods. In all, 33 adults with chronic kidney disease (CKD) Stage 5 undergoing maintenance HF-HD were assigned to post-dilution OL-HDF (n = 17) or to remain on HF-HD (n = 16, control group) for 12 months. The primary outcome was the change in lean tissue mass (LTM), intracellular water (ICW) and body cell mass (BCM) assessed by multifrequency bioimpedance spectroscopy (BIS) at baseline and 4, 8 and 12 months. The rate of change in these parameters was estimated with linear mixed-effects models. Results. Compared with OL-HDF, patients assigned to HF-HD experienced a gradual reduction in LTM, ICW and BCM. These differences reached statistical significance at Month 12, with a relative difference of 7.31 kg [95% confidence interval (CI) 2.50–12.11; P = 0.003], 2.32 L (95% CI 0.63–4.01; P = 0.008) and 5.20 kg (95% CI 1.74–8.66; P = 0.004) for LTM, ICW and BCM, respectively. The normalized protein appearance increased in the OL-HDF group compared with the HF-HD group [0.26 g/kg/day (95% CI 0.05–0.47); P = 0.002], with a relative reduction in high-sensitive C-reactive protein [−13.31 mg/dL (95% CI −24.63 to −1.98); P = 0.02] at Month 12. Conclusions. OL-HDF for 1 year compared with HF-HD preserved muscle mass, increased protein intake and reduced the inflammatory state related to uraemia and dialysis, supporting the hypothesis that high convection volume can benefit nutritional status and prevent protein-energy wasting in HD patients

High-Volume On-Line Hemodiafiltration May Prevent Protein-Energy Wasting in Hemodialysis Patients: A 1-Year Prospective Controlled Study

INTRODUCTION AND AIMS: Compared to conventional hemodialysis (HD), on-line hemodiafiltration (OL-HDF) achieves a more efficient removal of uremic toxins and reduces inflammation, which could favourably affect nutritional status. We evaluated the effect of OL-HDF on body composition and nutritional status in prevalent high-flux HD (HF-HD) patients