Pseudoxanthoma Elasticum and Cardiorenal Disease: A Case Report

Pseudoxanthoma elasticum (PXE) is a rare genetic disorder characterized by calcification of elastic fibres, skin lesions, fundus lesions and systemic vascular complications. PXE affects approximately 1 in 160,000 people, typically appearing as a formation of yellow papules containing abnormally calcified elastic fibres. The renal involvement of PXE has been reported. Several factors are known to promote soft tissue and accelerated arterial calcification in chronic kidney disease, including systemic inflammation, altered calcium and phosphate homeostasis, hypertension and a deficiency of endogenous calcification inhibitors. Given the impact of this disease, nephrologists may seek additional supportive features to improve and avoid the risk of complications. Moreover, PXE per se represents an interesting model to evaluate vascular disease in the early stages of renal disease

Geoarqueología y paleontología de los depósitos de Pleistoceno Superior del antiguo Arroyo Abroñigal (Cuenca de Manzanares, Madrid): el yacimiento de Puente de los Tres Ojos

La excavación arqueológica del yacimiento del Puente de los Tres Ojos, próximo a la calle Cerro Negro (Madrid), ha aportado nuevos datos para profundizar en el conocimiento de la ocupación humana y en la reconstrucción paleoambiental del valle del antiguo arroyo Abroñigal, cuyo curso fluvial funcionó como afluente del río Manzanares posiblemente desde antes del Pleistoceno Superior hasta la segunda mitad del siglo XX. En el presente artículo se incluyen los aspectos geomorfológicos y cronoestratigráficos de los niveles excavados, documentándose varias secuencias fluviales y aluviales de relleno de la margen derecha del fondo de valle del Abroñigal en su tramo inferior. Durante la excavación se registró un amplio conjunto lítico, formado en su mayoría por piezas recuperadas en niveles de arenas y gravas correspondientes a episodios fluviales de media energía, a las que hay que añadir un porcentaje menor localizado en niveles de limos arcillosos y arenas finas. La mayor parte del conjunto lítico responde a sistemas técnicos propios del Paleolítico Medio, aunque destaca la presencia testimonial de piezas del Paleolítico Superior, además de restos de fauna de mamíferos correspondientes al Pleistoceno Superior, todo ello en niveles datados por OSL entre 14.400 y 11.170 años BP aproximadament

Matched cohort study on the efficacy of tocilizumab in patients with COVID-19

Background: Tocilizumab has been proposed as a treatment for the new disease COVID-19, however, there is not enough scientific evidence to support this treatment. The objective of this study is to analyze whether the use of tocilizumab is associated with respiratory improvement and a shorter time to discharge in patients with COVID-19 and lung involvement. Methods: Observational study on a cohort of 418 patients, admitted to three county hospitals in Catalonia (Spain). Patients admitted consecutively were included and followed until discharge or up to 30 days of admission. A sub-cohort of patients treated with tocilizumab and a sub-cohort of control patients were identified, matched by a large number of risk factors and clinical variables. Sub-cohorts were also matched by the number of other treatments for COVID-19 that patients received. Increment in SAFI (inspired oxygen fraction / saturation) 48 h after the start of treatment, and time to discharge, were the primary outcomes. Mortality, which was a secondary outcome, was analyzed in the total cohort, by using logistic regression models, adjusted by confounders. Results: There were 96 patients treated with tocilizumab. Of them, 22 patients could be matched with an equivalent number of control patients. The increment in SAFI from baseline to 48 h of treatment, was not significantly different between groups (tocilizumab: −0.04; control: 0.09; p = 0.636). Also, no difference in time to discharge was found between the two sub-cohorts (logrank test: p = 0.472). The logistic regression models, did not show an effect of tocilizumab on mortality (OR 0.99; p = 0.990). Conclusions: We did not find a clinical benefit associated with the use tocilizumab, in terms of respiratory function at 48 h of treatment, or time to discharge

The Hidden Sexuality of Alexandrium Minutum: An Example of Overlooked Sex in Dinoflagellates

Dinoflagellates are haploid eukaryotic microalgae in which rapid proliferation causes dense blooms, with harmful health and economic effects to humans. The proliferation mode is mainly asexual, as the sexual cycle is believed to be rare and restricted to stressful environmental conditions. However, sexuality is key to explaining the recurrence of many dinoflagellate blooms because in many species the fate of the planktonic zygotes (planozygotes) is the formation of resistant cysts in the seabed (encystment). Nevertheless, recent research has shown that individually isolated planozygotes in the lab can enter other routes besides encystment, a behavior of which the relevance has not been explored at the population level. In this study, using imaging flow cytometry, cell sorting, and Fluorescence In Situ Hybridization (FISH), we followed DNA content and nuclear changes in a population of the toxic dinoflagellate Alexandrium minutum that was induced to encystment. Our results first show that planozygotes behave like a population with an “encystment-independent” division cycle, which is light-controlled and follows the same Light:Dark (L:D) pattern as the cycle governing the haploid mitosis. Resting cyst formation was the fate of just a small fraction of the planozygotes formed and was restricted to a period of strongly limited nutrient conditions. The diploid-haploid turnover between L:D cycles was consistent with two-step meiosis. However, the diel and morphological division pattern of the planozygote division also suggests mitosis, which would imply that this species is not haplontic, as previously considered, but biphasic, because individuals could undergo mitotic divisions in both the sexual (diploid) and the asexual (haploid) phases. We also report incomplete genome duplication processes. Our work calls for a reconsideration of the dogma of rare sex in dinoflagellates.Versión del edito

Definición del núcleo optimizado de la colección de conservación del manzano español

5 Pags.- 1 Tabl.Este trabajo tiene como objetivo determinar la estrategia más adecuada para la selección del conjunto mínimo de accesiones (núcleo optimizado) que represente eficientemente la variación genética del manzano conservado en las colecciones españolas. Este núcleo optimizado mediante criterios genéticos constituirá la base de la colección nuclear de conservación, que podrá ser complementado con accesiones seleccionadas por otros criterios (morfo-fisiológicos, agronómicos, valor histórico, etc.). Se ha evaluado la eficiencia de estrategias de selección por búsqueda local estocástica avanzada (ASLS) que diferían tanto por el tamaño final del núcleo como por la combinación (y peso relativo) de las medidas de distancia genética y riqueza alélica a optimizar. Las estrategias empleadas han proporcionado núcleos optimizados con grandes diferencias en la diversidad conservada, así como en el nivel de representación de la estructura genética general. Teniendo en cuenta el uso principal de la colección nuclear, la estrategia que ofrece un mejor equilibrio entre representatividad y adecuación al uso es la que combina la optimización de la distancia media entre cada accesión de la colección y la entrada en el núcleo más cercana con el índice de Shannon y la recuperación de alelos.Este trabajo ha sido financiado por los proyectos INIA RF2011-00017-C05-00 y RTA2015-00052-C02-00Peer reviewe

Development of a standardized methodology for phenotypical characterizations in apple

4 Pags.- 2 Tabls. Articles derived from XIV EUCARPIA Symposium on Fruit Breeding and Genetics (Bologna,Italy. June 14-18 2015) . The definitive version is available at: http://www.actahort.org/index.htmThe description of phenotypic traits in apple cultivars is generally performed using internationally agreed descriptors such as UPOV guidelines, which defines for each trait several states of expression. However, it is not always possible to classify a cultivar unambiguously using those guidelines, because in practice the states are not clearly enough defined or the example cultivars are not always available in the collections. This work presents the results of a harmonization project performed by the teams responsible of the main apple germplasm collections in Spain. The objective was to develop a standardized method for the 57 traits included in the TG/14/9 UPOV guidelines for apple characterization, defining their states of expression in a clear and unambiguous way for Spanish germplasm. Phenotypic data collected for more than 1,600 accessions from Spanish collections were used and the method to define each state depended on the type of expression. For quantitative traits the number of states and their limits were defined according to the variability that exists within and between accessions. For qualitative traits, high-resolution images clearly depicting each state were selected. A standardized characterization protocol for the 57 traits of apple germplasm has been provided, enabling to comparing properly the phenotypes of Spanish genetic resources.This Project has been funded by the Spanish Ministry of Science and Innovation/National Institute for Agricultural and Food Research and Technology (RF2011- 00017-C05-00).Peer reviewe

Development of a standardized methodology for phenotypical characterizations in apple

1 pag.This work presents the results of a harmonization project performed by the teams responsible of the main apple germplasm collections in Spain. The objective was to develop a standardized method for the 57 traits included in the TG/14/9 UPOV guidelines for apple characterization, defining their states of expression in a clear and unambiguous way for Spanish germplasm.Peer reviewe

The relapsed acute lymphoblastic leukemia network (ReALLNet): a multidisciplinary project from the spanish society of pediatric hematology and oncology (SEHOP)

Acute lymphoblastic leukemia (ALL) is the most common pediatric cancer, with survival rates exceeding 85%. However, 15% of patients will relapse; consequently, their survival rates decrease to below 50%. Therefore, several research and innovation studies are focusing on pediatric relapsed or refractory ALL (R/R ALL). Driven by this context and following the European strategic plan to implement precision medicine equitably, the Relapsed ALL Network (ReALLNet) was launched under the umbrella of SEHOP in 2021, aiming to connect bedside patient care with expert groups in R/R ALL in an interdisciplinary and multicentric network. To achieve this objective, a board consisting of experts in diagnosis, management, preclinical research, and clinical trials has been established. The requirements of treatment centers have been evaluated, and the available oncogenomic and functional study resources have been assessed and organized. A shipping platform has been developed to process samples requiring study derivation, and an integrated diagnostic committee has been established to report results. These biological data, as well as patient outcomes, are collected in a national registry. Additionally, samples from all patients are stored in a biobank. This comprehensive repository of data and samples is expected to foster an environment where preclinical researchers and data scientists can seek to meet the complex needs of this challenging population. This proof of concept aims to demonstrate that a network-based organization, such as that embodied by ReALLNet, provides the ideal niche for the equitable and efficient implementation of “what's next” in the management of children with R/R ALL