Las miopatías metabólicas son un grupo de trastornos genéticos que disminuyen la capacidad del músculo esquelético para utilizar sustratos energéticos y sintetizar ATP. Estas alteraciones pueden clasificarse en tres tipos fundamentalmente: i) trastornos del metabolismo de los carbohidratos (del glucógeno y de la glucosa), ii) defectos del metabolismo lipídico, y iii) alteraciones de la fosforilación oxidativa –OXPHOS-. Las dos primeras se deben a deficiencias enzimáticas de las rutas metabólicas de degradación y síntesis de glúcidos y lípidos y muestran diversas manifestaciones (...) clínicas, pero una buena parte de ellas cursan con intolerancia al ejercicio. Aunque un buen número de pacientes con estos trastornos musculares presentan síntomas en la infancia, el diagnóstico normalmente se retrasa hasta la segunda y tercera década de la vida. Por tanto, reconocer las características clínicas de estas deficiencias conduce a un diagnóstico precoz y a un mejor tratamiento. Las enfermedades mitocondriales son un grupo de trastornos originados por una deficiencia en la síntesis de ATP a través del sistema de fosforilación oxidativa. Este sistema está formado por proteínas codificadas en los dos genomas de la célula (nuclear y mitocondrial) y, por tanto, pueden presentar un modelo de herencia mendeliano o materno. En esta revisión se describirán las características especiales del sistema genético mitocondrial y las principales mutaciones que causan enfermedades en humanos. (shrink)

A phenomenological model is developed as an alternative to current analyses of the imagination in sport philosophy, heirs to an Enlightenment notion that conceptualizes imaginings as abstract, eidetic, and representational. EC describes how Eidetic and Corporeal Imaginings phenomenologically structure our imaginative undertakings. EIs keep the ‘ideal’ aspect, but CIs—enacted, corporeal, non-representational—are more fundamental and foundational. Sports are particularly suited to express CIs’ muscular imaginings, which result in novel performances. An enactive framework theorizes CIs as non-representational interactions.

A phenomenological model is developed as an alternative to current analyses of the imagination in sport philosophy, heirs to an Enlightenment notion that conceptualizes imaginings as abstract, eidetic, and representational. EC describes how Eidetic and Corporeal Imaginings phenomenologically structure our imaginative undertakings. EIs keep the ‘ideal’ aspect, but CIs—enacted, corporeal, non-representational—are more fundamental and foundational. Sports are particularly suited to express CIs’ muscular imaginings, which result in novel performances. An enactive framework theorizes CIs as non-representational interactions.

Muscular dystrophies are associated with mutations in genes encoding several classes of proteins. These range from extracellular matrix and integral membrane proteins to cytoskeletal proteins, but also include a heterogeneous group of proteins including proteases, nuclear proteins, and signalling molecules. Muscular dystrophy phenotypes have also become evident in studies on various knockout mice defective in proteins not previously considered or known to be mutated in muscular dystrophies. Some unifying themes are beginning to emerge from all of these data. This review (...) will consider recent advances in our understanding of the molecules involved and bring together data that suggest a role for the cytoskeleton and cell adhesion in muscular dystrophies. BioEssays 24:542–552, 2002. © 2002 Wiley Periodicals, Inc. (shrink)

A survey of members of the Japan Muscular Dystrophy Association , including patients and families, was conducted in October 1995. Some of the same questions that were included in a 1992 survey were included to allow comparisons. During the 1994 Annual Meeting in Kyoto a special session on fetal diagnosis and bioethics was included, attended by over 500 persons, which may have been a cause for increased awareness of genetic diagnosis seen in this survey. 60% of patients and 71% of (...) families said they would receive fetal diagnosis. 10% of patients and 24% of families could remember DNA diagnosis of themselves, and most had some type of consent or information. (shrink)

Although the precise function of utrophin at the postsynaptic membrane of the neuromuscular junction still remains unclear, despite recent genetic ‘knockout’ experiments(1,2), a separate study in a transgenic mouse model system for Duchenne muscular dystrophy (DMD) has nonetheless shown that overexpression of utrophin into extrasynaptic regions of muscle fibers can functionally compensate for the lack of dystrophin and alleviate the muscle pathology(3). In this context, the next step is to identify the mechanisms presiding over expression of utrophin at the neuromuscular (...) synapse in attempts to induce its expression throughout DMD muscle fibers. In fact, additional studies have shown that an important DNA element contained with the utrophin promoter may confer synapse‐specific expression to the utrophin gene(4,5). Identification of the events culminating in the transaction of the utrophin gene within synaptic myonuclei should provide important cues for the development of an effective therapeutic strategy for DMD. (shrink)

RESUMEN El presente texto es el resultado de un estudio dirigido a demostrar la importancia del sistema muscular en mujeres operadas de cáncer de mama, enfermedad con elevada incidencia en Cuba y el mundo. Se investigó en los principales reportes anatómicos. Se partió de la revisión documental de textos básicos para la carrera de Medicina inherentes a la asignatura Anatomía Humana. Se corroboró que autores como M. Prives, N Lisenkov y V Bushkovich y R. D. Sinelnikov; describen los músculos, pero (...) no relatan su importancia en la práctica quirúrgica. Se emplearon los buscadores en Internet y otros sitios webs de información científica, que permitieron corroborar desde un enfoque de ciencia, tecnología y sociedad la importancia del tejido muscular y su aplicación en técnicas reconstructivas en pacientes operadas de cáncer de mama. Se constató que los músculos más usados son los rectos abdominales, los dorsales anchos, los gráciles y el tejido adiposo del pliegue glúteo. ABSTRACT The present text is the result of a study directed to demonstrate the importance of the muscular system in women who had a surgery on breast cancer, illness with high incidence in Cuba and the world. It was investigated in the principal anatomical reports. It began with the documentary review of basic texts for the career of Medicine inherent to the subject Human Anatomy. It was corroborated that authors like M. Prives, N Lisenkov and V Bushkovich and R. D. Sinelnikov; they describe the muscles, but they do not report their importance in surgical practice. It was used the searche engines on Internet and other web sites of scientific information, which allowed to corroborate from an approach of science, technology and society the importance of the muscular tissue andits application in reconstructive techniques in patients who undergoa breast cancer surgery. It was stated that the most used muscles are the abdominal rectus, the latissimusdorsi, the graceful ones and the adipose tissue of the gluteus fold. (shrink)

The aim of this study was to evaluate the neuromuscular response to an agility and repeated sprint ability test according to the level of competition in futsal players. A total of 33 players from two elite teams and one amateur team participated in the study. The participants completed an agility t-test, a 30 m-speed test, and a RSA test. A countermovement jump test and a tensiomyography test of the rectus femoris and biceps femoris of both legs were carried out before (...) and after the tests. RSA test revealed better sprint times in elite players compared to amateurs in the seven bouts, as well as in the 30 m sprint and in the agility test. In conclusion, elite players showed greater performance in the RSA test, in the 30 m tests and in the agility test compared to amateur players. The contractile properties were not a key factor in the RSA performance of the futsal players. (shrink)

The rise of chauvinist, bigoted and sectarian politics in India coincided with the critique and blanket dismissal of modern science by some Indian intellectuals. The elective affinities between these two developments and the larger global intellectual and politial context have been analyzed in great detail by Meera Nanda. This paper provides a critical examination and appreciation of the enormous intellectual and political significance of Nanda's work.

The hereditary neurodegenerative disease spinal muscular atrophy (SMA) with childhood onset is one of the most common genetic causes of infant mortality. The disease is characterized by selective loss of spinal cord motor neurons leading to muscle atrophy and is the result of mutations in the survival motor neuron (SMN) gene. The SMN protein has been implicated in diverse nuclear processes including splicing, ribosome formation and gene transcription. Even though the genetic basis of SMA is well understood, it is not (...) clear how defects in these ubiquitous processes result in motor neuron degeneration leaving other tissues unaffected. Recent evidence from animal and cell culture models of SMA points to roles for SMN in neurite outgrowth and axonal transport. Disruption of these functions might be particularly detrimental to motor neurons given their high metabolic demands and precise connectivity requirements, thus providing a possible explanation for the specificity of motor neuron susceptibility in SMA. Understanding the molecular mechanisms of SMN activity in neuronal processes may generate new targets for future therapeutic strategies. BioEssays 27:946–957, 2005. © 2005 Wiley Periodicals, Inc. (shrink)

Spinal muscular atrophy (SMA) is the most common genetic disease that causes infant mortality. Its treatment and prevention represent the paradigmatic example of the ethical dilemmas of 21st‐century medicine. New therapies (nusinersen and AVXS‐101) hold the promise of being able to treat, but not cure, the condition. Alternatively, genomic analysis could identify carriers, and carriers could be offered in vitro fertilization and preimplantation genetic diagnosis. In the future, gene editing could prevent the condition at the embryonic stage. How should these (...) different options be evaluated and compared within a health system? In this paper, we discuss the ethical considerations that bear on the question of how to prioritize the different treatments and preventive options for SMA, at a policy level. We argue that despite the tremendous value of what we call ‘ex‐post’ approaches to treating SMA (such as using pharmacological agents or gene therapy), there is a moral imperative to pursue ‘ex‐ante’ interventions (such as carrier screening in combination with prenatal testing and preimplantation genetic diagnosis, or gene editing) to reduce the incidence of SMA. There are moral reasons relating to autonomy, beneficence and justice to prioritize ex‐ante methods over ex‐post methods. (shrink)

BackgroundThe rating of perceived exertion scales with respiratory and muscular illustrations are recognized as simple and practical methods to understand individual psychometric characteristics in breathing and muscle exertion during exercise. However, the implementation of respiratory and muscular RPE to quantify training load in futsal training camps has not been examined. This study investigates respiratory and muscular RPE relationships during domestic training camps and overseas training camps in an under 20 futsal national team.MethodsData collected from eleven field players were used for (...) comparison in this study. All players reported Borg CR10 RPE and 7-scales respiratory RPE and muscular RPE after training sessions and matches. Additionally, total distance covered and training impulse were used to quantify external and internal loads via the Polar Team Pro system. Paired-sample t-tests were used to compare the RPECR10, RPErespiration, RPEmuscle, TD, and TRIMP between DTC and OTC. Furthermore, linear regression was performed to determine the relationships among all RPE scales, TD, and TRIMP.ResultsThe RPECR10, TD, and TRIMP showed significant difference between DTC and OTC. Furthermore, linear regression analyses showed significant correlation between RPErespiration and RPEmuscle, RPECR10 and RPErespiration, and RPECR10 and RPEmuscle.ConclusionPictorial RPErespiration or RPEmuscle can be used as an alternative to quantify perceived measures of internal loads during DTC and OTC in futsal players. Interpretation of perceived measures of training load and cardiac-related responses in association with external training loads during short-term training camps would be useful in further understanding the demands of futsal players’ experience in these circumstances. (shrink)

Invertebrate genetic models with their tractable neuromuscular systems are effective vehicles for the study of human nerve and muscle disorders. This is exemplified by insights made into spinal muscular atrophy (SMA) using the fruit fly Drosophila melanogaster and the nematode worm Caenorhabditis elegans. For speed and economy, these invertebrates offer convenient, whole‐organism platforms for genetic screening as well as RNA interference (RNAi) and chemical library screens, permitting the rapid testing of hypotheses related to disease mechanisms and the exploration of new (...) therapeutic routes and drug candidates. Here, we discuss recent developments encompassing synaptic physiology, RNA processing, and screening of compound and genome‐scale RNAi libraries, showcasing the importance of invertebrate SMA models.Editor's suggested further reading in BioEssays: SMN and Gemins: ‘We are family’... or are we? Abstract. (shrink)