Teaching video neuro images. the beevor sign in late-onset pompe disease

The Beevor sign, an upward deflection of the umbilicus on flexion of the neck, is a characteristic finding in facioscapulohumeral muscular dystrophy.1 Many other neuromuscular disorders involving axial muscles can present a Beevor sign.2 We report a 45-year-old man with late-onset Pompe disease showing a major Beevor sign (figure 1 and video on the Neurology® Web site at Neurology.org). He had progressive limb-girdle weakness that started in his 20s and severe axial weakness. Whole-body muscle MRI showed a complete fatty replacement and atrophy of the lower part of rectus abdominis and a milder involvement of the upper par

Evaluación del impacto de la cooperación universidad-empresa en la docencia de una asignatura de Ingeniería telemática

La EETAC (escuela de ingeniería en telecomunicaciones y aerospacial de Castelldefels) es una escuela pionera en la Universidad politécnica por sus metodologías docentes. Este trabajo muestra la experiencia de una colaboración universidad-empresa en el marco de una asignatura de ingeniería de aplicaciones de la titulación de ingeniería telemática y la gestión de proyectos ágiles con el fin de solucionar un reto real planteado por una institución colaboradora de la agencia europea espacial.Peer ReviewedPostprint (published version

Nintedanib decreases muscle fibrosis and improves muscle function in a murine model of dystrophinopathy

Duchenne muscle dystrophy (DMD) is a genetic disorder characterized by progressive skeletal muscle weakness. Dystrophin deficiency induces instability of the sarcolemma during muscle contraction that leads to muscle necrosis and replacement of muscle by fibro-adipose tissue. Several therapies have been developed to counteract the fibrotic process. We report the effects of nintedanib, a tyrosine kinase inhibitor, in the mdx murine model of DMD. Nintedanib reduced proliferation and migration of human fibroblasts in vitro and decreased the expression of fibrotic genes such as COL1A1, COL3A1, FN1, TGFB1, and PDGFA. We treated seven mdx mice with 60 mg/kg/day nintedanib for 1 month. Electrophysiological studies showed an increase in the amplitude of the motor action potentials and an improvement of the morphology of motor unit potentials in the animals treated. Histological studies demonstrated a significant reduction of the fibrotic areas present in the skeletal muscles. Analysis of mRNA expression from muscles of treated mice showed a reduction in Col1a1, Col3a1, Tgfb1, and Pdgfa. Western blot showed a reduction in the expression of collagen I in skeletal muscles. In conclusion, nintedanib reduced the fibrotic process in a murine model of dystrophinopathy after 1 month of treatment, suggesting its potential use as a therapeutic drug in DMD patients.España, Ministerio de Economía y Competitividad BFU2016-74975-PEspaña, Instituto Ramón y Cajal PI13/0134

Scale-invariant avalanche dynamics in the temperature-driven martensitic transition of a Cu-Al-Be single crystal

We have combined high sensitivity, extra-low differential temperature scanning rate calorimetry, and acoustic emission (AE) measurements to study avalanches during the cubic ↔ 18R martensitic transition of a Cu-Al-Be single crystalline shape memory alloy. Both AE and calorimetry corroborate a good power-law behavior for cooling with an exponent ε 1.6. For heating, a slope is observed in the maximum likelihood curves, which confirms that our data are affected by an exponential cutoff. An effective energy exponent, ε ∼ 1.85, and a cutoff, λ −1 = 0.115(38)E-3 aJ, were determined by fits of power-laws with exponential damping. The long tail observed in the low-temperature region by calorimetric measurements suggests the existence of significant elastic effects that constrain the progress of the transformation at low temperatures. While thermodynamic features such as transformation enthalpy and entropy are those expected for Cu-based shape-memory alloys undergoing a cubic ↔ 18R transition, the critical behavior deviates from the corresponding behavior expected from this symmetry change. These deviations are a consequence of the elastic hardening induced by the interplay of the transformation with dislocation jamming, which has the effect of effectively reducing the number of pathways connecting the parent and martensitic phaseMinisterio de Ciencia,Innovación y Universidades (MAT2016-75823-R)Engineering and Physical Sciences Research Council (EP/P024904/1

Uso de métodos ágiles y PBL en una asignatura de ingeniería del software del grado de ingeniería telemática: gestión de proyectos de ingeniería del software en un entorno docente

Actualmente, empresas como Amazon o Google aplican un método llamado Scrum para agilizar el proceso de desarrollo de sus proyectos software y mejorar la calidad de los resultados. Por otro lado, en el entorno docente, la metodología del aprendizaje basado en proyectos o PBL se afianza cada día más porque, además de potenciar la motivación de los estudiantes, facilita el desarrollo de competencias transversales. Este documento describe cómo se aplica Scrum en una asignatura que sigue los conceptos de PBL y presenta los primeros resultados obtenidos. Dichos resultados apuntan a que Scrum aporta beneficios a PBL.Postprint (published version

La auriculopuntura disminuye los niveles de ansiedad en adultos chilenos con malnutrición por exceso

Introduction: Despite the increase in the use of traditional Chinese medicine for the treatment of obesity, there are few studies which evaluate its effect. Objective: To determine the effect of auriculopuncture on anxiety, nutritional intake and anthropometric measures in Chilean adults with malnutrition by excess. Materials and methods: A quasi-experimental study was conducted with a probabilistic sample conformed by 21 subjects, divided into two groups: intervened GI (n=11) and control GC (n=10). The intervention consisted in performing auriculopuncture for seven weeks to GI and administering a placebo to GC. In both groups anthropometry, nutritional intake and anxiety levels were determined. All participants signed informed consent. To compare averages between groups and intra groups, the T-student test was used for paired samples. Statistical significance was set to one (α < 0.05). Results: A decrease in anxiety (p=0.036) and sodium intake (p=0.035) was found in the GI. No statistically significant differences were found in the variables of caloric-nutritional and anthropometric intake in any group. Conclusions: It is necessary to increase the intervention time to evaluate the long-term effect and thus establish causal associations

Testing the degree of biostabilization in the refuse from composting plants

In composting plants, aerobic fermentation could not to be complete and therefore, the fate of unstabilyzed wastes from the compost refining, uses to be landfill. This fact provokes an extra biogas generation in landfills, which contributes to greenhouse effect. In this work, the refuse of compost refining process has been subjected to an anaerobic fermentation. For that, in order to analyze their biogas generation, three samples of different composting plants have been selected. In one of these plants, the amount of biogas generation has been considerable, which involves a not complete stabilization of biowaste in the composting process

Hypoxia triggers IFN-I production in muscle: Implications in dermatomyositis

Dermatomyositis is an inflammatory myopathy characterized by symmetrical proximal muscle weakness and skin changes. Muscle biopsy hallmarks include perifascicular atrophy, loss of intramuscular capillaries, perivascular and perimysial inflammation and the overexpression of IFN-inducible genes. Among them, the retinoic-acid inducible gene 1 (RIG-I) is specifically overexpressed in perifascicular areas of dermatomyositis muscle. The aim of this work was to study if RIG-I expression may be modulated by hypoxia using an in vitro approach. We identified putative hypoxia response elements (HRE) in RIG-I regulatory regions and luciferase assays confirmed that RIG-I is a new HIF-inducible gene. We observed an increase expression of RIG-I both by Real time PCR and Western blot in hypoxic conditions in human muscle cells. Cell transfection with a constitutive RIG-I expression vector increased levels of phospho-IRF-3, indicating that RIG-I promotes binding of transcription factors to the enhancer sequence of IFN. Moreover, release of IFN-beta was observed in hypoxic conditions. Finally, HIF-1 alpha overexpression was confirmed in the muscle biopsies and in some RIG-I positive perifascicular muscle fibres but not in controls. Our results indicate that hypoxia triggers the production of IFN-I in vitro, and may contribute to the pathogenesis of DM together with other inflammatory factors

Avalanche criticality in the martensitic transition of Cu67.64Zn16.71Al15.65 shape-memory alloy: a calorimetric and acoustic emission study

The first-order diffusionless structural transition in Cu67.64Zn16.71Al15.65 is characterized by jerky propagation of phase fronts related to the appearance of avalanches. In this paper, we describe a full analysis of this avalanche behavior using calorimetric heat-flux measurements and acoustic emission measurements. Two different propagation modes, namely, smooth front propagation and jerky avalanches, were observed in extremely slow measurements with heating and cooling rates as low as a few 10−3 K/h. Avalanches show criticality where each avalanche leads to a spike in the heat flux. Their statistical analysis leads to a power law [P(E)∼E−ε, where P(E)dE is the probability to observe an avalanche with energy E in an interval between E and E+dE] with an energy exponent of ε=2.15±0.15 in excellent agreement with the results of acoustic emission measurements. Avalanches appear to be more common for heating rates faster than 5×10−3 K/h whereas smooth front propagation occurs in all calorimetric measurements and (almost) exclusively for slower heating rates. Repeated cooling runs were taken after a waiting time of 1 month (and an intermediate heating run). Correlations between the avalanche sequences of the two cooling runs were found for the strongest avalanche peaks but not for the full sequence of avalanches. The memory effect is hence limited to strong avalanches

Proteasome inhibitors reduce thrombospondin-1 release in human dysferlin-deficient myotubes

Altres ajuts: This project has been funded by projects from the Fundación Isabel Gemio to II, EG and JDM and by Fundación Ramón Areces (CIVP18A3903) to NdL.Dysferlinopathies are a group of muscle disorders causing muscle weakness and absence or low levels of dysferlin, a type-II transmembrane protein and the causative gene of these dystrophies. Dysferlin is implicated in vesicle fusion, trafficking, and membrane repair. Muscle biopsy of patients with dysferlinopathy is characterized by the presence of inflammatory infiltrates. Studies in the muscle of both human and mouse models of dysferlinopathy suggest dysferlin deficient muscle plays a role in this inflammation by releasing thrombospondin-1. It has also been reported that vitamin D3 treatment enhances dysferlin expression. The ubiquitin-proteasome system recognizes and removes proteins that fail to fold or assemble properly and previous studies suggest that its inhibition could have a therapeutic effect in muscle dystrophies. Here we assessed whether inhibition of the ubiquitin proteasome system prevented degradation of dysferlin in immortalized myoblasts from a patients with two missense mutations in exon 44. To assess proteasome inhibition we treated dysferlin deficient myotubes with EB1089, a vitamin D3 analog, oprozomib and ixazomib. Western blot was performed to analyze the effect of these treatments on the recovery of dysferlin and myogenin expression. TSP-1 was quantified using the enzyme-linked immunosorbent assay to analyze the effect of these drugs on its release. A membrane repair assay was designed to assess the ability of treated myotubes to recover after membrane injury and fusion index was also measured with the different treatments. Data were analyzed using a one-way ANOVA test followed by Tukey post hoc test and analysis of variance. A p ≤ 0.05 was considered statistically significant. Treatment with proteasome inhibitors and EB1089 resulted in a trend towards an increase in dysferlin and myogenin expression. Furthermore, EB1089 and proteasome inhibitors reduced the release of TSP-1 in myotubes. However, no effect was observed on the repair of muscle membrane after injury. Our findings indicate that the ubiquitin-proteasome system might not be the main mechanism of mutant dysferlin degradation. However, its inhibition could help to improve muscle inflammation by reducing TSP-1 release. The online version contains supplementary material available at 10.1186/s12891-020-03756-7