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

Jacobi Identity for Vertex Algebras in Higher Dimensions

Vertex algebras in higher dimensions provide an algebraic framework for investigating axiomatic quantum field theory with global conformal invariance. We develop further the theory of such vertex algebras by introducing formal calculus techniques and investigating the notion of polylocal fields. We derive a Jacobi identity which together with the vacuum axiom can be taken as an equivalent definition of vertex algebra.Comment: 35 pages, references adde

Ramsey interferometry with an atom laser

We present results on a free-space atom interferometer operating on the first order magnetically insensitive |F=1,mF=0> -> |F=2,mF=0> transition of Bose-condensed 87Rb atoms. A pulsed atom laser is output-coupled from a Bose-Einstein condensate and propagates through a sequence of two internal state beam splitters, realized via coherent Raman transitions between the two interfering states. We observe Ramsey fringes with a visibility close to 100% and determine the current and the potentially achievable interferometric phase sensitivity. This system is well suited to testing recent proposals for generating and detecting squeezed atomic states.Comment: published version, 8 pages, 3 figure

Tumor tracking based on correlation models in scanned ion beam therapy: an experimental study

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The impact of organ motion and the appliance of mitigation strategies on the effectiveness of hypoxia-guided proton therapy for non-small cell lung cancer.

BACKGROUND AND PURPOSE To investigate the impact of organ motion on hypoxia-guided proton therapy treatments for non-small cell lung cancer (NSCLC) patients. MATERIALS AND METHODS Hypoxia PET and 4D imaging data of six NSCLC patients were used to simulate hypoxia-guided proton therapy with different motion mitigation strategies including rescanning, breath-hold, respiratory gating and tumour tracking. Motion-induced dose degradation was estimated for treatment plans with dose painting of hypoxic tumour sub-volumes at escalated dose levels. Tumour control probability (TCP) and dosimetry indices were assessed to weigh the clinical benefit of dose escalation and motion mitigation. In addition, the difference in normal tissue complication probability (NTCP) between escalated proton and photon VMAT treatments have been assessed. RESULTS Motion-induced dose degradation was found for target coverage (CTV V95% up to -4%) and quality of the dose-escalation-by-contour (QRMS up to 6%) as a function of motion amplitude and amount of dose escalation. The TCP benefit coming from dose escalation (+4-13%) outweighs the motion-induced losses (<2%). Significant average NTCP reductions of dose-escalated proton plans were found for lungs (-14%), oesophagus (-10%) and heart (-16%) compared to conventional VMAT plans. The best plan dosimetry was obtained with breath hold and respiratory gating with rescanning. CONCLUSION NSCLC affected by hypoxia appears to be a prime target for proton therapy which, by dose-escalation, allows to mitigate hypoxia-induced radio-resistance despite the sensitivity to organ motion. Furthermore, substantial reduction in normal tissue toxicity can be expected compared to conventional VMAT. Accessibility and standardization of hypoxia imaging and clinical trials are necessary to confirm these findings in a clinical setting

Classification of simple linearly compact n-Lie superalgebras

We classify simple linearly compact n-Lie superalgebras with n>2 over a field F of characteristic 0. The classification is based on a bijective correspondence between non-abelian n-Lie superalgebras and transitive Z-graded Lie superalgebras of the form L=\oplus_{j=-1}^{n-1} L_j, such that L_{-1}=g, where dim L_{n-1}=1, L_{-1} and L_{n-1} generate L, and [L_j, L_{n-j-1}] =0 for all j, thereby reducing it to the known classification of simple linearly compact Lie superalgebras and their Z-gradings. The list consists of four examples, one of them being the n+1-dimensional vector product n-Lie algebra, and the remaining three infinite-dimensional n-Lie algebras.Comment: Final version to appear in Communications in Mathematical Physic

Fix Your Eyes in the Space You Could Reach: Neurons in the Macaque Medial Parietal Cortex Prefer Gaze Positions in Peripersonal Space

Interacting in the peripersonal space requires coordinated arm and eye movements to visual targets in depth. In primates, the medial posterior parietal cortex (PPC) represents a crucial node in the process of visual-to-motor signal transformations. The medial PPC area V6A is a key region engaged in the control of these processes because it jointly processes visual information, eye position and arm movement related signals. However, to date, there is no evidence in the medial PPC of spatial encoding in three dimensions. Here, using single neuron recordings in behaving macaques, we studied the neural signals related to binocular eye position in a task that required the monkeys to perform saccades and fixate targets at different locations in peripersonal and extrapersonal space. A significant proportion of neurons were modulated by both gaze direction and depth, i.e., by the location of the foveated target in 3D space. The population activity of these neurons displayed a strong preference for peripersonal space in a time interval around the saccade that preceded fixation and during fixation as well. This preference for targets within reaching distance during both target capturing and fixation suggests that binocular eye position signals are implemented functionally in V6A to support its role in reaching and grasping

Schrodinger cat states prepared by Bloch oscillation in a spin-dependent optical lattice

We propose to use Bloch oscillation of ultra-cold atoms in a spin-dependent optical lattice to prepare schrodinger cat states. Depending on its internal state, an atom feels different periodic potentials and thus has different energy band structures for its center-of-mass motion. Consequently, under the same gravity force, the wave packets associated with different internal states perform Bloch oscillation of different amplitudes in space and in particular they can be macroscopically displaced with respect to each other. In this way, a cat state can be prepared.Comment: 4 pages, 3 figures; slightly modifie

Damagnetization cooling of a gas

We demonstrate demagnetization cooling of a gas of ultracold $^{52}$Cr atoms. Demagnetization is driven by inelastic dipolar collisions which couple the motional degrees of freedom to the spin degree. By that kinetic energy is converted into magnetic work with a consequent temperature reduction of the gas. Optical pumping is used to magnetize the system and drive continuous demagnetization cooling. Applying this technique, we can increase the phase space density of our sample by one order of magnitude, with nearly no atom loss. This method can be in principle extended to every dipolar system and could be used to achieve quantum degeneracy via optical means.Comment: 10 pages, 5 figure

Plastic Representation of the Reachable Space for a Humanoid Robot

Reaching a target object requires accurate estimation of the object spatial position and its further transformation into a suitable arm-motor command. In this paper, we propose a framework that provides a robot with a capacity to represent its reachable space in an adaptive way. The location of the target is represented implicitly by both the gaze direction and the angles of arm joints. Two paired neural networks are used to compute the direct and inverse transformations between the arm position and the head position. These networks allow reaching the target either through a ballistic movement or through visually-guided actions. Thanks to the latter skill, the robot can adapt its sensorimotor transformations so as to reflect changes in its body configuration. The proposed framework was implemented on the NAO humanoid robot, and our experimental results provide evidences for its adaptative capabilities