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

A922 Sequential measurement of 1 hour creatinine clearance (1-CRCL) in critically ill patients at risk of acute kidney injury (AKI)

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Multi-messenger observations of a binary neutron star merger

On 2017 August 17 a binary neutron star coalescence candidate (later designated GW170817) with merger time 12:41:04 UTC was observed through gravitational waves by the Advanced LIGO and Advanced Virgo detectors. The Fermi Gamma-ray Burst Monitor independently detected a gamma-ray burst (GRB 170817A) with a time delay of ~1.7 s with respect to the merger time. From the gravitational-wave signal, the source was initially localized to a sky region of 31 deg2 at a luminosity distance of 40+8-8 Mpc and with component masses consistent with neutron stars. The component masses were later measured to be in the range 0.86 to 2.26 Mo. An extensive observing campaign was launched across the electromagnetic spectrum leading to the discovery of a bright optical transient (SSS17a, now with the IAU identification of AT 2017gfo) in NGC 4993 (at ~40 Mpc) less than 11 hours after the merger by the One- Meter, Two Hemisphere (1M2H) team using the 1 m Swope Telescope. The optical transient was independently detected by multiple teams within an hour. Subsequent observations targeted the object and its environment. Early ultraviolet observations revealed a blue transient that faded within 48 hours. Optical and infrared observations showed a redward evolution over ~10 days. Following early non-detections, X-ray and radio emission were discovered at the transient’s position ~9 and ~16 days, respectively, after the merger. Both the X-ray and radio emission likely arise from a physical process that is distinct from the one that generates the UV/optical/near-infrared emission. No ultra-high-energy gamma-rays and no neutrino candidates consistent with the source were found in follow-up searches. These observations support the hypothesis that GW170817 was produced by the merger of two neutron stars in NGC4993 followed by a short gamma-ray burst (GRB 170817A) and a kilonova/macronova powered by the radioactive decay of r-process nuclei synthesized in the ejecta

Role of age and comorbidities in mortality of patients with infective endocarditis

[Purpose]: The aim of this study was to analyse the characteristics of patients with IE in three groups of age and to assess the ability of age and the Charlson Comorbidity Index (CCI) to predict mortality. [Methods]: Prospective cohort study of all patients with IE included in the GAMES Spanish database between 2008 and 2015.Patients were stratified into three age groups:<65 years,65 to 80 years,and ≥ 80 years.The area under the receiver-operating characteristic (AUROC) curve was calculated to quantify the diagnostic accuracy of the CCI to predict mortality risk. [Results]: A total of 3120 patients with IE (1327 < 65 years;1291 65-80 years;502 ≥ 80 years) were enrolled.Fever and heart failure were the most common presentations of IE, with no differences among age groups.Patients ≥80 years who underwent surgery were significantly lower compared with other age groups (14.3%,65 years; 20.5%,65-79 years; 31.3%,≥80 years). In-hospital mortality was lower in the <65-year group (20.3%,<65 years;30.1%,65-79 years;34.7%,≥80 years;p < 0.001) as well as 1-year mortality (3.2%, <65 years; 5.5%, 65-80 years;7.6%,≥80 years; p = 0.003).Independent predictors of mortality were age ≥ 80 years (hazard ratio [HR]:2.78;95% confidence interval [CI]:2.32–3.34), CCI ≥ 3 (HR:1.62; 95% CI:1.39–1.88),and non-performed surgery (HR:1.64;95% CI:11.16–1.58).When the three age groups were compared,the AUROC curve for CCI was significantly larger for patients aged <65 years(p < 0.001) for both in-hospital and 1-year mortality. [Conclusion]: There were no differences in the clinical presentation of IE between the groups. Age ≥ 80 years, high comorbidity (measured by CCI),and non-performance of surgery were independent predictors of mortality in patients with IE.CCI could help to identify those patients with IE and surgical indication who present a lower risk of in-hospital and 1-year mortality after surgery, especially in the <65-year group

Calidad de forraje de canola (Brassica napus L.) en floraciones temprana y tardía bajo condiciones de temporal en Zacatecas, México

Canola forage could be an option for diversify crops grown under rainfed conditions and to improve quality forage produced. The objective was to evaluate nutritional composition of canola under rainfed conditions at two plant-growing stages. Fourty eight (48) randomly samples of forage in early bloom (5 % bloom, n= 24) and late bloom (90 % bloom, n= 24) were used within 1 ha plot located in semi-temperate climate at North of Mexico. All samples were dry at 65 °C during 48 h; bromatological and nutritional evaluation were performed using standard methods. Differences (P<0.05) were observed in all variables, averaging 26 vs 12 % crude protein, 47 vs 60 % neutral detergent fiber, 28 vs 52 % acid detergent fiber, 2.56 vs 1.99 % dry matter intake (%BW), 67 vs 48 % DMS, and 133 vs 72 relative forage value, 1.52 vs 0.86 net energy for maintenance (Mcal/kg), respectively for early and late bloom. It is concluded that early bloom canola forage represents better quality because of its protein content and fiber fraction. Estimated energetic value is 1.8 times greater in early bloom compared with late bloom (1.52 vs 0.86 Mcal ENm/kg); and early bloom energetic value is compared with sudan grass.  El objetivo fue evaluar la composición nutricional y el potencial forrajero de la canola en condiciones de temporal, durante dos etapas de crecimiento. Se utilizaron 48 muestras seleccionadas al azar de forraje en floración temprana (5 % floración, n= 24) y tardía (90 % floración, n= 24), recolectadas de una parcela (1 ha) situada en el municipio de Calera de Víctor Rosales, Zacatecas, México, caracterizado por ser un clima semi-templado. Todas las muestras se secaron a 65 °C durante 48 h; las evaluaciones nutricionales y bromatológicas se realizaron utilizando métodos estándar. Se observaron diferencias (P<0.05) en todas las variables estudiadas; la proteína cruda (%) promedió 26 vs 12, fibra detergente neutro (% base seca) 47 vs 60, fibra detergente ácido (% base seca) 28 vs 52, consumo esperado (DMI, % PV) 2.56 vs 1.99, digestibilidad de la materia seca (% base seca) 67 vs 48, valor relativo del forraje 133 vs 72, y la energía neta de mantenimiento (Mcal/kg materia seca) 1.52 vs 0.86, respectivamente para la floración temprana y tardía. Se concluye que el forraje de la canola en la fase de floración temprana presenta una mayor calidad como resultado de sus contenidos de proteína cruda y de la fracción fibra. Comparado con la floración tardía, el valor energético estimado resultó 1.8 veces mayor (1.52 vs 0.86 Mcal ENm/kg) para la floración temprana, este valor energético estimado es similar al del pasto sudán