1,086 research outputs found
Dominant BIN1-related centronuclear myopathy (CNM) revealed by lower limb myalgia and moderate CK elevation
We report a BIN1-related CNM family with unusual clinical phenotype. The proband, a 56-year-old man suffered of lower limbs myalgia since the age of 52. Clinical examination showed short stature, mild symmetric eyelid ptosis without ophthalmoplegia, scapular winging and Achilles tendon retraction. A muscle weakness was not noted. CK levels were up to 350 UI/L. Deltoid muscle biopsy showed nuclear centralization and clustering, deep sarcolemmal invaginations and type 1 fiber hypotrophy. Whole body MRI revealed fatty infiltration of posterior legs compartments, lumbar paraspinal and serratus muscles. Myotonic dystrophy type1 and 2, Pompe disease and MTM1 and DNM2-related CNM were ruled out. By sequencing BIN1, we identified a heterozygous pathogenic mutation [c.107C > A (p.A36E)], and we demonstrate that the mutation strongly impairs the membrane tubulation property of the protein. One affected sister carried the same mutation. Her clinical examination and muscle MRI revealed a similar phenotype. Our findings expand the clinical and genetic spectrum of the autosomal dominant CNM associated with BIN1 mutations
There is no "Theory of Everything" inside E8
We analyze certain subgroups of real and complex forms of the Lie group E8,
and deduce that any "Theory of Everything" obtained by embedding the gauge
groups of gravity and the Standard Model into a real or complex form of E8
lacks certain representation-theoretic properties required by physical reality.
The arguments themselves amount to representation theory of Lie algebras in the
spirit of Dynkin's classic papers and are written for mathematicians.Comment: Final version, to appear in Communications in Mathematical Physics.
The main difference, from the previous version, is the creation of a new
section, containing a response to Lisi's objections to our wor
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Ecological intensification: bridging the gap between science and practice
There is worldwide concern about the environmental costs of conventional intensification of agriculture. Growing evidence suggests that ecological intensification of mainstream farming can safeguard food production, with accompanying environmental benefits; however, the approach is rarely adopted by farmers. Our review of the evidence for replacing external inputs with ecosystem services shows that scientists tend to focus on processes (e.g., pollination) rather than outcomes (e.g., profits), and express benefits at spatio-temporal scales that are not always relevant to farmers. This results in mismatches in perceived benefits of ecological intensification between scientists and farmers, which hinders its uptake. We provide recommendations for overcoming these mismatches and highlight important additional factors driving uptake of nature-based management practices, such as social acceptability of farming
Emerging properties of financial time series in the âGame of Lifeâ
We explore the spatial complexity of Conwayâs âGame of Life,â a prototypical cellular automaton by means of a geometrical procedure generating a two-dimensional random walk from a bidimensional lattice with periodical boundaries. The one-dimensional projection of this process is analyzed and it turns out that some of its statistical properties resemble the so-called stylized facts observed in financial time series. The scope and meaning of this result are discussed from the viewpoint of complex systems. In particular, we stress how the supposed peculiarities of financial time series are, often, overrated in their importance
A new class of semiclassical wave function uniformizations
We present a new semiclassical technique which relies on replacing
complicated classical manifold structure with simpler manifolds, which are then
evaluated by the usual semiclassical rules. Under circumstances where the
original manifold structure gives poor or useless results semiclassically the
replacement manifolds can yield remarkable accuracy. We give several working
examples to illustrate the theory presented here.Comment: 12 pages (incl. 12 figures
Semi-Markov Graph Dynamics
In this paper, we outline a model of graph (or network) dynamics based on two
ingredients. The first ingredient is a Markov chain on the space of possible
graphs. The second ingredient is a semi-Markov counting process of renewal
type. The model consists in subordinating the Markov chain to the semi-Markov
counting process. In simple words, this means that the chain transitions occur
at random time instants called epochs. The model is quite rich and its possible
connections with algebraic geometry are briefly discussed. Moreover, for the
sake of simplicity, we focus on the space of undirected graphs with a fixed
number of nodes. However, in an example, we present an interbank market model
where it is meaningful to use directed graphs or even weighted graphs.Comment: 25 pages, 4 figures, submitted to PLoS-ON
Novel design of a parallax free Compton enhanced PET scanner
Molecular imaging by PET is a powerful tool in modern clinical practice for cancer diagnosis. Nevertheless, improvements are needed with respect to the spatial resolution and sensitivity of the technique for its application to specific human organs (breast, prostate, brain, etc.), and to small animals. Presently, commercial PET scanners do not detect the depth of interaction of photons in scintillators, which results in a not negligible parallax error. We describe here a novel concept of PET scanner design that provides full three-dimensional (3D) gamma reconstruction with high spatial resolution over the total detector volume, free of parallax errors. It uses matrices of long scintillators read at both ends by hybrid photon detectors. This so-called 3D axial concept also enhances the gamma detection efficiency since it allows one to reconstruct a significant fraction of Compton scattered events. In this note, we describe the concept, a possible design and the expected performance of this new PET device. We also report about first characterization measurements of 10 cm long YAP:Ce scintillation crystals. r 2004 Elsevier B.V. All rights reserved
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