331 research outputs found
Actividad EEG durante dos tipos de estimulación sensitiva. A propósito de un caso.
[Objetivo] Entender mejor los fenómenos neurofisiológicos que acontecen a nivel cortical en el sujeto sano ante la exploración rutinaria de la sensibilidad.Peer reviewe
Distilling a visual network of Retinitis Pigmentosa gene-protein interactions to uncover new disease candidates
BACKGROUND: Retinitis pigmentosa (RP) is a highly heterogeneous genetic visual disorder with more than 70 known causative genes, some of them shared with other non-syndromic retinal dystrophies (e.g. Leber congenital amaurosis, LCA). The identification of RP genes has increased steadily during the last decade, and the 30% of the cases that still remain unassigned will soon decrease after the advent of exome/genome sequencing. A considerable amount of genetic and functional data on single RD genes and mutations has been gathered, but a comprehensive view of the RP genes and their interacting partners is still very fragmentary. This is the main gap that needs to be filled in order to understand how mutations relate to progressive blinding disorders and devise effective therapies. METHODOLOGY: We have built an RP-specific network (RPGeNet) by merging data from different sources: high-throughput data from BioGRID and STRING databases, manually curated data for interactions retrieved from iHOP, as well as interactions filtered out by syntactical parsing from up-to-date abstracts and full-text papers related to the RP research field. The paths emerging when known RP genes were used as baits over the whole interactome have been analysed, and the minimal number of connections among the RP genes and their close neighbors were distilled in order to simplify the search space. CONCLUSIONS: In contrast to the analysis of single isolated genes, finding the networks linking disease genes renders powerful etiopathological insights. We here provide an interactive interface, RPGeNet, for the molecular biologist to explore the network centered on the non-syndromic and syndromic RP and LCA causative genes. By integrating tissue-specific expression levels and phenotypic data on top of that network, a more comprehensive biological view will highlight key molecular players of retinal degeneration and unveil new RP disease candidates
Promoting the circular economy: Valorization of a residue from industrial char to activated carbon with potential environmental applications
Grant CPP 2021-008551 funded by MICIU/AEI/10.13039/501100011033, and, as appropriate, by “ERDF a way of making Europe”, by “ERDF/EU”, by the “European Union NextGenerationEU/PRTR”. They also thank the support provided for the external services of investigation of the University of Granada (“Centro de Instrumentación Científica”, CIC). Finally, the authors also are thankful to “Neoliquid Advanced Biofuels and Biochemicals S.L.” for providing the industrial chars from municipal solid waste, “Grupo Layna Gestión de Residuos S.L.” for providing the industrial char from biomass waste, and “Ecocuadrado S.L.” for providing municipal and industrial solid waste. Funding for open access charge: Universidad de Granada/CBUA.Pyrolysis of residues enriched with carbon, such as in agroforestry or industrial activities, has been postulated as an emerging technology to promote the production of biofuels, contributing to the circular economy and minimizing waste. However, during the pyrolysis processes a solid fraction residue is generated. This work aims to study the viability of these chars to develop porous carbonaceous materials that can be used for environmental applications. Diverse chars discharged by an industrial pyrolysis factory have been activated with KOH. Concretely, the char residues came from the pyrolysis of olive stone, pine, and acacia splinters, spent residues fuel, and cellulose artificial casings. The changes in the textural, structural, and composition characteristics after the activation process were studied by N2 adsorption-desorption isotherms, scanning electron microscopy, FTIR, elemental analysis, and XPS. A great porosity was developed, SBET within 776–1186 m2 g−1 and pore volume of 0.37–0.59 cm3 g−1 with 70–90% of micropores contribution. The activated chars were used for the adsorption of CO2, leading to CO2 maximum uptakes of 90–130 mg g−1. There was a good correlation between the CO2 uptake with microporosity and oxygenated surface groups of the activated chars. Moreover, their ability to adsorption of contaminants in aqueous solution was also evaluated. Concretely, there was studied the adsorption of aqueous heavy metals, i.e., Cd, Cu, Ni, Pb, and Zn, and organic pollutants of emerging concern such as caffeine, diclofenac, and acetaminophen.MICIU/AEI/10.13039/501100011033 CPP 2021-008551ERDF/EUEuropean Union NextGenerationEU/PRTRUniversity of GranadaUniversidad de Granada/CBU
Methodology for Olive Pruning Windrow Assessment Using 3D Time-of-Flight Camera
The management of olive pruning residue has shifted from burning to shredding, laying residues on soil, or harvesting residues for use as a derivative. The objective of this research is to develop, test, and validate a methodology to measure the dimensions, outline, and bulk volume of pruning residue windrows in olive orchards using both a manual and a 3D Time-of-Flight (ToF) camera. Trees were pruned using trunk shaker targeted pruning, from which two different branch sizes were selected to build two separate windrow treatments with the same pruning residue dose. Four windrows were built for each treatment, and four sampling points were selected along each windrow to take measurements using both manual and 3D ToF measurements. Windrow section outline could be defined using a polynomial or a triangular function, although manual measurement required processing with a polynomial function, especially for high windrow volumes. Different branch sizes provided to be significant differences for polynomial function coefficients, while no significant differences were found for windrow width. Bigger branches provided less bulk volume, which implied that these branches formed less porous windrows that smaller ones. Finally, manual and 3D ToF camera measurements were validated, giving an adequate performance for olive pruning residue windrow in-field assessment
RPGeNet v2 .0: expanding the universe of retinal disease gene interactions network
RPGeNet offers researchers a user-friendly queriable tool to visualize the interactome network of visual disorder genes, thus enabling the identification of new potential causative genes and the assignment of novel candidates to specific retinal or cellular pathways. This can be highly relevant for clinical applications as retinal dystrophies affect 1:3000 people worldwide, and the causative genes are still unknown for 30% of the patients. RPGeNet is a refined interaction network interface that limits its skeleton network to the shortest paths between each and every known causative gene of inherited syndromic and non-syndromic retinal dystrophies. RPGeNet integrates interaction information from STRING, BioGRID and PPaxe, along with retina-specific expression data and associated genetic variants, over a Cytoscape.js web interface. For the new version, RPGeNet v2.0, the database engine was migrated to Neo4j graph database manager, which speeds up the initial queries and can handle whole interactome data for new ways to query the network. Further, user facilities have been introduced as the capability of saving and restoring a researcher customized network layout or as novel features to facilitate navigation and data projection on the network explorer interface. Responsiveness has been further improved by transferring some functionality to the client side
Locomotor training through a novel robotic platform for gait rehabilitation in pediatric population: short report
[Background]
Cerebral Palsy (CP) is a disorder of posture and movement due to a defect in the immature brain. The use of robotic devices as alternative treatment to improve the gait function in patients with CP has increased. Nevertheless, current gait trainers are focused on controlling complete joint trajectories, avoiding postural control and the adaptation of the therapy to a specific patient. This paper presents the applicability of a new robotic platform called CPWalker in children with spastic diplegia.[Findings]
CPWalker consists of a smart walker with body weight and autonomous locomotion support and an exoskeleton for joint motion support. Likewise, CPWalker enables strategies to improve postural control during walking. The integrated robotic platform provides means for testing novel gait rehabilitation therapies in subjects with CP and similar motor disorders. Patient-tailored therapies were programmed in the device for its evaluation in three children with spastic diplegia for 5 weeks.
After ten sessions of personalized training with CPWalker, the children improved the mean velocity (51.94 ± 41.97 %), cadence (29.19 ± 33.36 %) and step length (26.49 ± 19.58 %) in each leg. Post-3D gait assessments provided kinematic outcomes closer to normal values than Pre-3D assessments.[Conclusions]
The results show the potential of the novel robotic platform to serve as a rehabilitation tool. The autonomous locomotion and impedance control enhanced the children’s participation during therapies. Moreover, participants’ postural control was substantially improved, which indicates the usefulness of the approach based on promoting the patient’s trunk control while the locomotion therapy is executed. Although results are promising, further studies with bigger sample size are required.The work presented in this paper has been carried out with the financial support from the Ministerio de Economía y Competitividad of Spain, under Contract DPI2012-39133-C03-01.Peer reviewe
Genetically Confirmed Familial Hypercholesterolemia in Patients With Acute Coronary Syndrome
BACKGROUND: Genetic screening programs in unselected individuals with increased levels of low-density lipoprotein cholesterol (LDL-C) have shown modest results in identifying individuals with familial hypercholesterolemia (FH). OBJECTIVES: This study assessed the prevalence of genetically confirmed FH in patients with acute coronary syndrome (ACS) and compared the diagnostic performance of FH clinical criteria versus FH genetic testing. METHODS: Genetic study of 7 genes (LDLR, APOB, PCSK9, APOE, STAP1, LDLRAP1, and LIPA) associated with FH and 12 common alleles associated with polygenic hypercholesterolemia was performed in 103 patients with ACS, age ≤65 years, and LDL-C levels ≥160 mg/dl. Dutch Lipid Clinic (DLC) and Simon Broome (SB) FH clinical criteria were also applied. RESULTS: The prevalence of genetically confirmed FH was 8.7% (95% confidence interval [CI]: 4.3% to 16.4%; n = 9); 29% (95% CI: 18.5% to 42.1%; n = 18) of patients without FH variants had a score highly suggestive of polygenic hypercholesterolemia. The prevalence of probable to definite FH according to DLC criteria was 27.2% (95% CI: 19.1% to 37.0%; n = 28), whereas SB criteria identified 27.2% of patients (95% CI: 19.1% to 37.0%; n = 28) with possible to definite FH. DLC and SB algorithms failed to diagnose 4 (44%) and 3 (33%) patients with genetically confirmed FH, respectively. Cascade genetic testing in first-degree relatives identified 6 additional individuals with FH. CONCLUSIONS: The prevalence of genetically confirmed FH in patients with ACS age ≤65 years and with LDL-C levels ≥160 mg/dl is high (approximately 9%). FH clinical algorithms do not accurately classify patients with FH. Genetic testing should be advocated in young patients with ACS and high LDL-C levels to allow prompt identification of patients with FH and relatives at risk.This research was supported in part by the Instituto de Salud Carlos III (grants RD012/0042/0066 and CB16/11/00432), Spanish Ministry of Economy and Competitiveness (grant SAF2015-71863-REDT), and Alexion through an Investigator Initiated Research Grant. Grants from the Instituto de Salud Carlos III and the Spanish Ministry of Economy and Competitiveness are supported by the Plan Estatal de I+D+I 2013-2016 European Regional Development Fund (FEDER), "A way of making Europe." The sponsors played no role in the design, collection, analysis, or interpretation of the data or in the decision to submit the manuscript for publication. Drs. Castillo, Lluis-Ganella, and Quintana are employees of Gendiag.exe/Ferrer inCode.S
Wnt/β-catenin signalling is required for pole-specific chromatin remodeling during planarian regeneration.
For successful regeneration, the identity of the missing tissue must be specified according to the pre-existing tissue. Planarians are ideal for the study of the mechanisms underlying this process; the same field of cells can regrow a head or a tail according to the missing body part. After amputation, the differential activation of the Wnt/β-catenin signal specifies anterior versus posterior identity. Initially, both wnt1 and notum (Wnt inhibitor) are expressed in all wounds, but 48 hours later they are restricted to posterior or anterior facing wounds, respectively, by an unknown mechanism. Here we show that 12 hours after amputation, the chromatin accessibility of cells in the wound region changes according to the polarity of the pre-existing tissue in a Wnt/β-catenin-dependent manner. Genomic analyses suggest that homeobox transcription factors and chromatin-remodeling proteins are direct Wnt/β-catenin targets, which trigger the expression of posterior effectors. Finally, we identify FoxG as a wnt1 up-stream regulator, probably via binding to its first intron enhancer region
Entrenamiento y rehabilitación de la marcha en pacientes pediátricos a través de la plataforma robótica CPWalker
[Resumen] La Parálisis Cerebral (PC) está relacionada con un trastorno de la postura y el movimiento debido a una lesión ocasionada en el cerebro cuando éste no se ha desarrollado completamente. Al ser una de las discapacidades más prevalentes a edades tempranas, la investigación y el desarrollo de dispositivos robóticos para la rehabilitación de la marcha en estos pacientes ha incrementado en los últimos tiempos. Sin embargo, los dispositivos actuales están enfocados sólo en controlar trayectorias de movimiento, olvidando el control postural del usuario y la adaptación de la terapia a las necesidades específicas de cada paciente. Este documento presenta los resultados preliminares de la aplicación de una nueva plataforma robótica (CPWalker) en la rehabilitación de la marcha de niños con diplejía espástica, durante una validación de cinco semanas. CPWalker está formado por un andador inteligente con sistema de control de peso y locomoción autónoma y un exoesqueleto robótico que realiza el movimiento guiado de las articulaciones. Además, el dispositivo incluye la posibilidad de mejorar el control postural del paciente durante la marcha, adaptando la terapia a las necesidades demandadas por el usuario.El trabajo presentado en este documento ha sido financiado por el Ministerio de Economía y Competitividad español, a través del contrato DPI2012-39133-C03-01https://doi.org/10.17979/spudc.978849749808
Relación genética, formación de biopelículas, movilidad y virulencia de Escherichia coli aislada de mastitis bovina
Escherichia coli es una de las bacterias ambientales que frecuentemente se ha visto implicada en infecciones de la glándula mamaria bovina. Aunque se desconocen los factores de virulencia específicos involucrados en dicho proceso, se ha observado que las bacterias formadoras de biopelículas se asocian con infecciones persistentes. De igual forma se ha planteado que las bacterias móviles pueden ser más patógenas. El propósito del presente trabajo fue analizar la relación genética, capacidad de formación de biopelículas y movilidad de E. coli aislada de casos de mastitis bovina, así como la virulencia in vivo de aislados representativos. De acuerdo a los datos obtenidos en este trabajo el 67.7% de las bacterias pertenece al grupo filogenético A, el 17.6% al grupo B1 y el 14.7% al D. El estudio de la relación genética mediante (GTG)5 reveló que solo dos bacterias son idénticas genéticamente, el resto de las bacterias se organizaron en siete grupos distintos con 70% de similitud. Por otro lado, el 76.5% de las bacterias estudiadas fue capaz de formar biopelículas de forma fuerte, moderada o débil. Además, los genes csgA y fimA se detectaron en el 52.9% de las bacterias formadoras de biopelículas. Por su parte, el análisis de movilidad arrojó que el 70.6% fue móvil. Mientras que, el análisis de patogenicidad en larvas de Galleria mellonella reveló que aquellas bacterias formadoras de películas y móviles fueron capaces de matar un mayor número de larvas a las 24 h que las no formadoras. Los datos presentados en este trabajo indican que las E. coli causantes de mastitis bovina son muy diversas y pertenecen principalmente al grupo filogenético A y que las formadoras de biopelículas y móviles son más patógenas.Escherichia coli es una de las bacterias ambientales que frecuentemente se ha visto implicada en infecciones de la glándula mamaria bovina. Aunque se desconocen los factores de virulencia específicos involucrados en dicho proceso, se ha observado que las bacterias formadoras de biopelículas se asocian con infecciones persistentes. De igual forma se ha planteado que las bacterias móviles pueden ser más patógenas. El propósito del presente trabajo fue analizar la relación genética, capacidad de formación de biopelículas y movilidad de E. coli aislada de casos de mastitis bovina, así como la virulencia in vivo de aislados representativos. De acuerdo a los datos obtenidos en este trabajo el 67.7% de las bacterias pertenece al grupo filogenético A, el 17.6% al grupo B1 y el 14.7% al D. El estudio de la relación genética mediante (GTG)5 reveló que solo dos bacterias son idénticas genéticamente, el resto de las bacterias se organizaron en siete grupos distintos con 70% de similitud. Por otro lado, el 76.5% de las bacterias estudiadas fue capaz de formar biopelículas de forma fuerte, moderada o débil. Además, los genes csgA y fimA se detectaron en el 52.9% de las bacterias formadoras de biopelículas. Por su parte, el análisis de movilidad arrojó que el 70.6% fue móvil. Mientras que, el análisis de patogenicidad en larvas de Galleria mellonella reveló que aquellas bacterias formadoras de películas y móviles fueron capaces de matar un mayor número de larvas a las 24 h que las no formadoras. Los datos presentados en este trabajo indican que las E. coli causantes de mastitis bovina son muy diversas y pertenecen principalmente al grupo filogenético A y que las formadoras de biopelículas y móviles son más patógenas
- …