Identification of de novo Mutations of Duchénnè/Becker Muscular Dystrophies in Southern Spain

Background: Duchénnè/Becker muscular dystrophies (DMD/BMD) are X-linked diseases, which are caused by a de novo gene mutation in one-third of affected males. The study objectives were to determine the incidence of DMD/BMD in Andalusia (Spain) and to establish the percentage of affected males in whom a de novo gene mutation was responsible.Methods: Multiplex ligation-dependent probe amplification (MLPA) technology was applied to determine the incidence of DMD/BMD in 84 males with suspicion of the disease and 106 female relatives.Results: Dystrophin gene exon deletion (89.5%) or duplication (10.5%) was detected in 38 of the 84 males by MLPA technology; de novo mutations account for 4 (16.7%) of the 24 mother-son pairs studied.Conclusions: MLPA technology is adequate for the molecular diagnosis of DMD/BMD and establishes whether the mother carries the molecular alteration responsible for the disease, a highly relevant issue for genetic counseling.CGLL has a postdoctoral fellowship from the Plan Propio of the University of Granada

Does the plasma composition affect the long term evolution of relativistic jets?

We study the influence of the matter content of extragalactic jets on their morphology, dynamics and emission properties. For this purpose we consider jets of extremely different compositions including pure leptonic and baryonic plasmas. Our work is based on two-dimensional relativistic hydrodynamic simulations of the long-term evolution of powerful extragalactic jets propagating into a homogeneous environment. The equation of state used in the simulations accounts for an arbitrary mixture of electrons, protons and electron-positron pairs. Using the hydrodynamic models we have also computed synthetic radio maps and the thermal Bremsstrahlung X-ray emission from their cavities. Although there is a difference of about three orders of magnitude in the temperatures of the cavities inflated by the simulated jets, we find that both the morphology and the dynamic behaviour are almost independent on the assumed composition of the jets. Their evolution proceeds in two distinct epochs. During the first one multidimensional effects are unimportant and the jets propagate ballistically. The second epoch starts when the first larger vortices are produced near the jet head causing the beam cross section to increase and the jet to decelerate. The evolution of the cocoon and cavity is in agreement with a simple theoretical model. The beam velocities are relativistic ($\Gamma \simeq 4$) at kiloparsec scales supporting the idea that the X-ray emission of several extragalactic jets may be due to relativistically boosted CMB photons. The radio emission of all models is dominated by the contribution of the hot spots. All models exhibit a depression in the X-rays surface brightness of the cavity interior in agreement with recent observations.Comment: 41 pages, 12 png figures. See also high quality versions of the figures and several movies under http://www.mpa-garching.mpg.de/~maa/JETS/LongTermEv/index.htm