A Poglut1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss

Skeletal muscle regeneration by muscle satellite cells is a physiological mechanism activated upon muscle damage and regulated by Notch signaling. In a family with autosomal recessive limbgirdle muscular dystrophy, we identified a missense mutation in POGLUT1 (protein O-glucosyltransferase 1), an enzyme involved in Notch posttranslational modification and function. In vitro and in vivo experiments demonstrated that the mutation reduces Oglucosyltransferase activity on Notch and impairs muscle development. Muscles from patients revealed decreased Notch signaling, dramatic reduction in satellite cell pool and a muscle-specific adystroglycan hypoglycosylation not present in patients’ fibroblasts. Primary myoblasts from patients showed slow proliferation, facilitated differentiation, and a decreased pool of quiescent PAX7+ cells. A robust rescue of the myogenesis was demonstrated by increasing Notch signaling. None of these alterations were found in muscles from secondary dystroglycanopathy patients. These data suggest that a key pathomechanism for this novel form of muscular dystrophy is Notch-dependent loss of satellite cells.Junta de Andalucía PI-0017-201

Toponomic Quantum Computation

Holonomic quantum computation makes use of non-abelian geometric phases, associated to the evolution of a subspace of quantum states, to encode logical gates. We identify a special class of subspaces, for which a sequence of rotations results in a non-abelian holonomy of a topological nature, so that it is invariant under any $SO(3)$-perturbation. Making use of a Majorana-like stellar representation for subspaces, we give explicit examples of topological-holonomic (or toponomic) NOT and CNOT gates.Comment: 5 pages, 4 figure

Electrical conductivity of metal (hydr)oxide–activated carbon composites under compression. A comparison study

[EN]From a granular commercial activated carbon (AC) and six metal (hydr)oxide precursors, including Al(NO3)3, Fe(NO3)3, SnCl2, TiO2, Na2WO4 and Zn(NO3)2, a broadly varied series of metal (hydr)oxideeAC composites were prepared by wet impregnation and subsequent oven-drying at 120 C. Here, the electrical conductivity of the resulting products was studied under moderate compression. The influence of the applied pressure, sample volume, mechanical work, and density of the hybrid materials was thoroughly investigated. The dc electrical conductivity of the compressed samples was measured at room temperature by the four-probe method. Compaction assays show that the mechanical properties of the composites are largely determined by the carbon matrix. Both the decrease in volume and the increase in density under compression were very small and only significant at pressures lower than 100 kPa for AC and most composites. By contrast, the bulk electrical conductivity of the hybrid materials was strongly influenced by the nature, content and intrinsic conductivity of the supported metal phases, which act as insulating thin layers thereby hindering the effective electron transport between AC cores of neighbouring sample particles in contact under compression. Conductivity values for the composites were lower than for the raw AC, all of them falling in the range of typical semiconductor materials. The patterns of variation of the electrical conductivity with pressure and mechanical work were slightly similar, thus suggesting the predominance of the pressure effects rather than the volume one

Decoherence in an accelerated universe

In this paper we study the decoherence processes of the semiclassical branches of an accelerated universe due to their interaction with a scalar field with given mass. We use a third quantization formalism to analyze the decoherence between two branches of a parent universe caused by their interaction with the vaccum fluctuations of the space-time, and with other parent unverses in a multiverse scenario.Comment: 11 pages, 2 figure

Hormonal responses to competition

S p o rts competitions have been employed to analy ze the influence of social confro n t ations on hormonal levels. Howeve r, results have been inconsistent. Seve ral va ri ables such as outcome, phy s i c a l exe rtion, mood and causal at t ri bution have been considered as important mediat o rs of this infl u e nc e. Our aim was to examine their role in the testosterone and cortisol responses to a real confro n t ation. To this end, twe l ve judoists who part i c i p ated in a competition between clubs we re studied. Results showed non significant diffe rences depending on outcome in hormones, physical exe rtion, mood and causal at t ri bution; only sat i s faction with the outcome being significant. Intere s t i n g ly, testoste rone response was positive ly associated with self-ap p raisal of perfo rmance and at t ri bution of outcome to personal effo rt. Cortisol response showed a ve ry consistent re l ationship with negat ive moo d. These findings support a clear association of competition-induced hormonal responses with cogni t ive and emotional aspects rather than with objective (outcome or physical exe rtion) ch a ra c t e ri stics of the situat i o n

Curves in quantum state space, geometric phases, and the brachistophase

Given a curve in quantum spin state space, we inquire what is the relation between its geometry and the geometric phase accumulated along it. Motivated by Mukunda and Simon's result that geodesics (in the standard Fubini-Study metric) do not accumulate geometric phase, we find a general expression for the derivatives (of various orders) of the geometric phase in terms of the covariant derivatives of the curve. As an application of our results, we put forward the brachistophase problem: given a quantum state, find the (appropriately normalized) hamiltonian that maximizes the accumulated geometric phase after time $\tau$ - we find an analytical solution for all spin values, valid for small $\tau$. For example, the optimal evolution of a spin coherent state consists of a single Majorana star separating from the rest and tracing out a circle on the Majorana sphere.Comment: 23 pages, 6 figure

Assessment of the wintering area of Red Knots in Maranhão, northern Brazil, in February 2005

To assess population size and the conservation status of the Red Knot Calidris canutus rufa population in Maranhão, N Brazil, an aerial census and field studies were conducted in February 2005. The aerial count showed a population of 7,575 Knots, which is down about 600 from a previous census in the 1980s. However, the count for all shorebird species combined was only 24,000 compared to 198,600 in the 1980s, paralleling a world-wide trend of population decline in shorebirds. Resightings of colour-banded knots confirmed that this is a separate population from the larger wintering population in Tierra del Fuego. All species of shorebirds captured in Maranhão were found to be infested with feather lice and mites. Body masses of knots in Maranhão were significantly lower than in Tierra del Fuego, and about half the birds were below the hypothesized fat-free mass of the species. Blood and feather samples were taken from 38 Knots for subsequent assessment of virus loads, and for detecting sites where primary feather moult had occurred. This will enable us to establish whether significant mortality is associated with pathogen loads and the energetic demands of delayed moulting. The small size of the Maranhão population and the loss of another 13,000 knots this winter from the Tierra del Fuego population means that both are now endangered. Brochures on the need for Red Knot conservation were designed and printed, and have been circulated among fishing communities and school classes in Maranhão.Fil: Baker,Allan J.. Royal Ontario Museum; CanadáFil: González, Patricia M.. Fundación Inalafquen; ArgentinaFil: Serrano, Ines L.. CEMAVE, Centro Nacional de Pesquisa para Conservação das Aves Silvestres; BrasilFil: Júnior, Wallace R. T.. CEMAVE, Centro Nacional de Pesquisa para Conservação das Aves Silvestres; BrasilFil: Efe, Marcio A.. Universidade Federal de Alagoas; BrasilFil: Rice, Susan. Eastern Shore of Virginia National Wildlife Refuge; Estados UnidosFil: D'amico, Veronica Laura. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Centro Nacional Patagónico; ArgentinaFil: Rocha, Marcia C.. Belém, Pará; BrasilFil: Echave, María Eugenia. Fundación Inalafquen; Argentin

Ovine HSP90AA1 Expression Rate Is Affected by Several SNPs at the Promoter under Both Basal and Heat Stress Conditions

The aim of this work was to investigate the association between polymorphisms located at the HSP90AA1 ovine gene promoter and gene expression rate under different environmental conditions, using a mixed model approach. Blood samples from 120 unrelated rams of the Manchega sheep breed were collected at three time points differing in environmental conditions. Rams were selected on the basis of their genotype for the transversion G/C located 660 base pairs upstream the gene transcription initiation site. Animals were also genotyped for another set of 6 SNPs located at the gene promoter. Two SNPs, G/C-660 and A/G-444, were associated with gene overexpression resulting from heat stress. The composed genotype CC-660-AG-444 was the genotype having the highest expression rates with fold changes ranging from 2.2 to 3.0. The genotype AG-522 showed the highest expression levels under control conditions with a fold change of 1.4. Under these conditions, the composed genotype CC-601-TT-524-AG-522-TT-468 is expected to be correlated with higher basal expression of the gene according to genotype frequencies and linkage disequilibrium values. Some putative transcription factors were predicted for binding sites where the SNPs considered are located. Since the expression rate of the gene under alternative environmental conditions seems to depend on the composed genotype of several SNPs located at its promoter, a cooperative regulation of the transcription of the HSP90AA1 gene could be hypothesized. Nevertheless epigenetic regulation mechanisms cannot be discarded. © 2013 Salces-Ortiz et al