Genetic predisposition to acute respiratory distress syndrome in patients with severe sepsis

The objective of this study was to analyze the association between candidate gene polymorphisms and susceptibility to acute respiratory distress syndrome (ARDS) in patients with severe sepsis. Patients older than 18 years admitted to the intensive care un

Mirando al futuro: conexi��n directa con la investigaci��n biom��dica

Los estudios de Ciencias Biom��dicas tienen una fuerte carga experimental y conexi��n con el mundo de la investigaci��n que a muchos alumnos les cuesta reconocer, especialmente entre los de primer curso. Por ello, los autores hemos dise��ado una actividad pr��ctica integrada y evaluable para la asignatura Bioqu��mica II del Grado de Medicina, impartida en primer curso. Se pretend��a conectar la asignatura con el mundo profesional de la investigaci��n en Ciencias Biom��dicas. El trabajo de los alumnos consisti�� en buscar la m��xima informaci��n sobre el grupo que les hubiera correspondido, preparar una entrevista para realizar al investigador responsable del laboratorio y analizar su publicaci��n m��s relevante, centr��ndose en la parte de su investigaci��n que tiene que ver con nuestros estudios. El resultado ha sido satisfactorio a todos los niveles: los alumnos han obtenido buenas calificaciones y han valorado la actividad con un 3 sobre 4, los investigadores puntuaron mayoritariamente con la m��xima calificaci��n a los alumnos y los profesores estamos satisfechos con el aprovechamiento de los alumnos as�� como con la interacci��n con los investigadores y la integraci��n con el resto de nuestros compa��eros docentes. Entendemos que la actividad debe mejorarse de cara al futuro, sobre todo en relaci��n al ��tem peor valorado por los alumnos: la conexi��n entre lo explicado en clase y lo aprendido en el laboratorio.

Influence of fat percentage, front thigh skinfold and girth on the maximum radial displacement of the dominant rectus femoris

4.171 JCR (2013) Q1, 6/81 Sport sciences

La trayectoria deportiva hacia el rendimiento en los deportes colectivos

��C��mo es la trayectoria seguida por un jugador de f��tbol desde que empieza a dar sus primeros pasos con el bal��n hasta que alcanza el rendimiento que le permita competir en la liga profesional de f��tbol?, ��c��mo ocurre en el baloncesto o en el balonmano? Son muchos los factores que influir��n sin duda alguna en dicho proceso. Entre dichos factores, en los ��ltimos a��os, se ha considerado de forma detenida la influencia de la ���practica deliberada��� en el desarrollo del deportista. Sin embargo, son varios los autores y estudios que explican que no solo influye dicha practica, sino que tambi��n es muy importante la influencia del ���juego deliberado���, bien en el mismo deporte, bien en otras especialidades deportivas, y que ambos tipos de practica son compatibles formando un continuum en el tiempo. Este art��culo tiene como objetivo presentar el estado de la arte en torno a este debate, en el ��mbito de los deportes colectivos, analizando si en los deportes colectivos los deportistas se especializan al principio en un solo deporte o bien si practican varias disciplinas deportivas para finalmente dedicarse exclusivamente a un deporte. Los resultados apuntan a que no existe un ��nico camino en el desarrollo del deportista, y que razones de car��cter social y cultural son las que realmente condicionan dicho proceso

Curso de nivelaci��n para los alumnos de nuevo ingreso en la Escuela Universitaria de Arquitectura T��cnica de la Universidad Polit��cnica de Madrid

En la Escuela Universitaria de Arquitectura T��cnica de Madrid, se ha desarrollado un curso que cabe denominar de Nivelaci��n. Incluy�� un conjunto de actividades destinadas a lograr que los alumnos accedieran con ��xito al mundo Universitario. Era un curso dirigido a los alumnos que una vez concluido el bachillerato y superadas las Pruebas de Acceso a Estudios Universitarios hab��an sido admitidos para cursar el primer curso de los estudios conducentes al t��tulo universi-tario oficial de Arquitecto T��cnico. El curso ha sido impartido por profesores de la Escuela Universitaria de Arquitectura T��cnica de la Universidad Polit��cnica de Madrid adscritos, respectivamente, a los Departamentos "EXPRE-SI��N GRAFICA APLICADA A LA EDIFICACI��N", "MATEM��TICAS APLICADAS A LA ARQUITECTURA T��CNICA" y "TECNOLOG��A DE LA EDIFICACI��N". Cada uno de los tres Departamentos concret�� inicialmente las asignaturas y los temarios a des-arrollar s�� bien a lo largo del proceso las ense��anzas se produjeron algunas modificaciones para una mejor adaptaci��n del curso a las necesidades reales de los alumnos. En la ponencia se analizar��n los avances y descubrimientos de los profesores en sus respectivos campos y se presentar��n las conclusiones obtenidas as�� como las posibles modificaciones para futuras ediciones de cursos similares.

Changes in the mechanical characteristics of the knee musculature in professional female volleyball players

The technical efficiency in volleyball is closely related to the ability to perform displacements or jump (1). Therefore, it is necessary that precise, individualized, and localized evaluation of the muscles frequently involved in volleyball practice be studied (2,3). The aim of this study was to analyze the neuromuscular changes of the knee musculature in professional volleyball players using Tensiomyography (TMG) and jump tests.

Phenotype consequences of myophosphorylase dysfunction: insights from the McArdle mouse model

McArdle disease, caused by inherited deficiency of the enzyme muscle glycogen phosphorylase (GP-MM), is arguably the paradigm of exercise intolerance. The recent knock-in (p.R50X/p.R50X) mouse disease model allows an investigation of the phenotypic consequences of muscle glycogen unavailability and the physiopathology of exercise intolerance. We analysed, in 2-month-old mice [wild-type (wt/wt), heterozygous (p.R50X/wt) and p.R50X/p.R50X)], maximal endurance exercise capacity and the molecular consequences of an absence of GP-MM in the main glycogen metabolism regulatory enzymes: glycogen synthase, glycogen branching enzyme and glycogen debranching enzyme, as well as glycogen content in slow-twitch (soleus), intermediate (gastrocnemius) and glycolytic/fast-twitch (extensor digitorum longus; EDL) muscles.

Xanthine oxidase pathway and muscle damage: Insights from McArdle disease

The intent of this review is to summarize current body of knowledge on the potential implication of the xanthine oxidase pathway (XO) on skeletal muscle damage. The possible involvement of the XO pathway in muscle damage is exemplified by the role of XO inhibitors (e.g., allopurinol) in attenuating muscle damage. Reliance on this pathway (as well as on the purine nucleotide cycle) could be exacerbated in conditions of low muscle glycogen availability. Thus, we also summarize current hypotheses on the etiology of both baseline and exertional muscle damage in McArdle disease, a condition caused by inherited deficiency of myophosphorylase. Because myophosphorylase catalyzes the first step of muscle glycogen breakdown, patients are unable to obtain energy from their muscle glycogen stores. Finally, we provide preliminary data from our laboratory on the potential implication of the XO pathway in the muscle damage that is commonly experienced by these patients.

Taking advantage of an old concept, "illegitimate transcription", for a proposed novel method of genetic diagnosis of McArdle disease

McArdle disease is a metabolic disorder caused by pathogenic mutations in the PYGM gene. Timely diagnosis can sometimes be difficult with direct genomic analysis, which requires additional studies of cDNA from muscle transcripts. Although the "nonsense-mediated mRNA decay" (NMD) eliminates tissue-specific aberrant transcripts, there is some residual transcription of tissue-specific genes in virtually all cells, such as peripheral blood mononuclear cells (PBMCs).We studied a subset of the main types of PYGM mutations (deletions, missense, nonsense, silent, or splicing mutations) in cDNA from easily accessible cells (PBMCs) in 12 McArdle patients.Analysis of cDNA from PBMCs allowed detection of all mutations. Importantly, the effects of mutations with unknown pathogenicity (silent and splicing mutations) were characterized in PBMCs. Because the NMD mechanism does not seem to operate in nonspecific cells, PBMCs were more suitable than muscle biopsies for detecting the pathogenicity of some PYGM mutations, notably the silent mutation c.645G>A (p.K215=), whose effect in the splicing of intron 6 was unnoticed in previous muscle transcriptomic studies.We propose considering the use of PBMCs for detecting mutations that are thought to cause McArdle disease, particularly for studying their actual pathogenicity.

Muscle signaling in exercise intolerance: Insights from the McArdle mouse model

We recently generated a knock-in mouse model (PYGM p.R50X/p.R50X) of McArdle disease (myophosphorylase deficiency). One mechanistic approach to unveil the molecular alterations caused by myophosphorylase deficiency, which is arguably the paradigm of 'exercise intolerance', is to compare the skeletal-muscle tissue of McArdle, heterozygous, and healthy (wild type (wt)) mice. We analyzed in quadriceps muscle of p.R50X/p.R50X (n=4), p.R50X/wt (n=6) and wt/wt mice (n=5) (all male, 8 wk-old) molecular markers of energy-sensing pathways, oxidative phosphorylation (OXPHOS) and autophagy/proteasome systems, oxidative damage and sarcoplamic reticulum (SR) Ca handling. We found a significant group effect for total AMPK (tAMPK) and ratio of phosphorylated (pAMPK)/tAMPK (P=0.012 and 0.033), with higher mean values in p.R50X/p.R50X mice vs. the other two groups. The absence of massive accumulation of ubiquitinated proteins, autophagosomes or lysosomes in p.R50X/p.R50X mice suggested no major alterations in autophagy/proteasome systems. Citrate synthase activity was lower in p.R50X/p.R50X mice vs. the other two groups (P=0.036) but no statistical effect existed for respiratory chain complexes. We found higher levels of 4-hydroxy-2-nonenal-modified proteins in p.R50X/p.R50X and p.R50X/wt mice compared with the wt/wt group (P=0.011). Sarco(endo)plasmic reticulum ATPase 1 (SERCA1) levels detected at 110kDa tended to be higher in p.R50X/p.R50X and p.R50X/wt mice compared with wt/wt animals (P=0.076), but their enzyme activity was normal. We also found an accumulation of phosphorylated SERCA1 in p.R50X/p.R50X animals. Myophosphorylase deficiency causes alterations in sensory energetic pathways together with some evidence of oxidative damage and alterations in Ca handling but with no major alterations in OXPHOS capacity or autophagy/ubiquitination pathways, which suggests that the muscle tissue of patients is likely to adapt overall favorably to exercise training interventions.