Multiple endocrinopathies (growth hormone deficiency, autoimmune hypothyroidism and diabetes mellitus) in Kearns-Sayre syndrome

Kearns-Sayre syndrome is characterized by onset before 20 years, chronic progressive external opthalmoplegia, pigmentary retinal degeneration, and ataxia (and/or hearth block, and/or high protein content in the cerebrospinal fluid) in the presence of mtDNA rearrangements. Multiple endocrine dysfunction associated with this syndrome was rarely reported. In this paper, the Authors report on a female patient with Kearns-Sayre syndrome with large heteroplasmic mtDNA deletion, absence of cytochrome c oxidase in many muscle fibers, partial GH deficiency, hypothyroidism and subsequently insulin dependent diabetes mellitus (IDDM). Anti-thyroid peroxidase and antithyreoglobulin antibodies were present in high titer in serum while anti-islet cell antibodies were absent. The patient developed thyroiditis with Hashimoto encephalopathy. The presence of GH deficiency, autoimmune thyroiditis with hypothyroidism and IDDM distinguishes this case from others and confirms the association of Kearns-Sayre syndrome with multiple endocrine dysfunction. Hashimoto encephalopathy and anti-thyroideal antibodies suggest that in this patient, predisposed by a genetic factor (a mitochondrial deletion) anti-thyroideal antibodies may have contributed to the hypothyroidism and, by interfering with cerebral mitochondrial function, may have caused the encephalopathy. GH deficiency and IDDM can be attributed to oxidative phosphorylation deficiency but the autoimmunity may also have played a role in the production of glandular insufficiencies. It seems important to search for endocrine autoimmunity in every case of KSS

Association of severe myoclonic epilepsy of infancy (SMEI) with probable autoimmune lymphoproliferative syndrome-variant

The paper reported on a case of severe myoclonic epilepsy of infancy (SMEI) associated with a probable autoimmune lymphoproliferative syndrome variant (Dianzani autoimmune lymphoproliferative disease) (DALD). A male patient with typical features of SMEI and a SCN1A gene variant presented in the first year of life with multiple lymph nodes, palpable liver at 2 cm from the costal margin, neutropenia, dysgammaglobulinemia, relative and sometimes absolute lymphocytosis. Subsequently the patient presented with constantly raised IgA in serum and positive antinuclear and thyroid antimicrosomal antibodies. The diagnosis of probable autoimmune lymphoproliferative syndrome was made; arthritis, skin and throat blisters, which appeared subsequently led to the diagnosis of linear IgA disease. On the basis of these unique associations, the Authors hypothesized that autoimmunity may be partly responsible of the severe epileptic symptomatology, perhaps mediated by autoantibodies against sodium channels or by accompanying cytotoxic T-lymphocytes. Corticosteroid treatment ameliorated the epilepsy and laboratory tests. Future studies will be necessary to evaluate the relevance of autoimmunity in SMEI

Endurecimiento acelerado del hormigón con vistas a los ensayos rápidos de control

Not availableBajo este tema se reúnen las comunicaciones presentadas, en un total de ocho, a un coloquio convocado por la Reunión Internacional de Laboratorios de Ensayo de Materiales (RILEM), con el fin de discutir la importancia de la aplicación del endurecimiento acelerado de los hormigones por tratamiento con agua caliente o vapor en los ensayos de control a corto plazo

Dynamic Graffiti Stylisation with Stochastic Optimal Control

We present a method for the interactive generation of stylised letters, curves and motion paths that are similar to the ones that can be observed in art forms such as graffiti and calligraphy. We define various stylisations of a letter form over a common geometrical structure, which is given by the spatial layout of a sparse sequence of targets. Different stylisations are then generated by optimising the trajectories of a dynamical system that tracks the target sequence. The evolution of the dynamical system is computed with a stochastic formulation of optimal control, in which each target is defined probabilistically as a multivariate Gaussian. The covariance of each Gaussian explicitly defines the variability as well as the curvilinear evolution of trajectory segments. Given this probabilistic formulation, the optimisation procedure results in a trajectory distribution rather than a single path. It is then possible to stochastically sample from the distribution an infinite number of dynamically and aesthetically consistent trajectories which mimic the variability that is typically observed in human drawing or writing. We further demonstrate how this system can be used together with a simple user interface in order to explore different stylisations of interactively or procedurally defined letters

Pioneer 10 data analysis: Investigation on periodic anomalies

International audienceThe Pioneer Anomaly refers to the difference between the expected theoretical tra jectory of the Pioneer 10 and 11 spacecrafts and the observed tra jectory through Doppler measurements. It has been interpreted by the Jet Propulsion Laboratory (JPL) as a constant anomalous acceleration (Anderson et al. 2002). For this analysis, the Groupe Anomalie Pioneer (GAP) composed of several french laboratories has developped a specific tra jectography software, ODYSSEY, which enables to test different anomaly models. The paper will present, after a brief description of the software and the implemented models, the last results obtained: in addition to the constant anomaly, time dependent signatures of the anomaly have been noticed which can be described geometrically. The fit of the Pioneer 10 data with these new models yields a reduction of the standard deviation of the residual by a factor 2 with respect to the simple constant anomaly

Calligraphic Stylisation Learning with a Physiologically Plausible Model of Movement and Recurrent Neural Networks

We propose a computational framework to learn stylisation patterns from example drawings or writings, and then generate new trajectories that possess similar stylistic qualities. We particularly focus on the generation and stylisation of trajectories that are similar to the ones that can be seen in calligraphy and graffiti art. Our system is able to extract and learn dynamic and visual qualities from a small number of user defined examples which can be recorded with a digitiser device, such as a tablet, mouse or motion capture sensors. Our system is then able to transform new user drawn traces to be kinematically and stylistically similar to the training examples. We implement the system using a Recurrent Mixture Density Network (RMDN) combined with a representation given by the parameters of the Sigma Lognormal model, a physiologically plausible model of movement that has been shown to closely reproduce the velocity and trace of human handwriting gestures

Grown-up stars physics with MATISSE

MATISSE represents a great opportunity to image the environment around massive and evolved stars. This will allow one to put constraints on the circumstellar structure, on the mass ejection of dust and its reorganization , and on the dust-nature and formation processes. MATISSE measurements will often be pivotal for the understanding of large multiwavelength datasets on the same targets collected through many high-angular resolution facilities at ESO like sub-millimeter interferometry (ALMA), near-infrared adaptive optics (NACO, SPHERE), interferometry (PIONIER, GRAVITY), spectroscopy (CRIRES), and mid-infrared imaging (VISIR). Among main sequence and evolved stars, several cases of interest have been identified that we describe in this paper.Comment: SPIE, Jun 2016, Edimbourgh, Franc

Constraints on f(RijklRijkl)f(R_{ijkl}R^{ijkl}) gravity: An evidence against the covariant resolution of the Pioneer anomaly

We consider corrections in the form of $\Delta L(R_{ijkl}R^{ijkl})$ to the Einstein-Hilbert Lagrangian. Then we compute the corrections to the Schwarszchild geometry due to the inclusion of this general term to the Lagrangian. We show that $\Delta L_3=\alpha_{{1/3}}(R_{ijkl}R^{ijkl})^{{1/3}}$ gives rise to a constant anomalous acceleration for objects orbiting the Sun onward the Sun. This leads to the conclusion that $\alpha_{{1/3}}=(13.91\pm 2.11) \times 10^{-26}(\frac{1}{\text{meters}})^{{2/3}}$ would have covariantly resolved the Pioneer anomaly if this value of $\alpha_{{1/3}}$ had not contradicted other observations. We notice that the experimental bounds on $\Delta L_3$ grows stronger in case we examine the deformation of the space-time geometry around objects lighter than the Sun. We therefore use the high precision measurements around the Earth (LAGEOS and LLR) and obtain a very strong constraint on the corrections in the form of $\Delta L(R_{ijkl}R^{ijkl})$ and in particular $\Delta L=\alpha_n(R_{ijkl}R^{ijkl})^n$. This bound requires $\alpha_{{1/3}}\leq6.12\times 10^{-29}(\frac{1}{\text{meters}})^{{2/3}}$. Therefore it refutes the covariant resolution of the Pioneer anomaly.Comment: ...v5: references added, new discussions adde

Time, spatial, and spectral resolution of the Halpha line-formation region of Deneb and Rigel with the VEGA/CHARA interferometer

BA-type supergiants are amongst the most optically-bright stars. They are observable in extragalactic environments, hence potential accurate distance indicators. Emission activity in the Halpha line of the BA supergiants Rigel (B8Ia) and Deneb (A2Ia) is indicative of presence of localized time-dependent mass ejections. Here, we employ optical interferometry to study the Halpha line-formation region in these stellar environments. High spatial- (0.001 arcsec) and spectral- (R=30 000) resolution observations of Halpha were obtained with the visible recombiner VEGA installed on the CHARA interferometer, using the S1S2 array-baseline (34m). Six independent observations were done on Deneb over the years 2008 and 2009, and two on Rigel in 2009. We analyze this dataset with the 1D non-LTE radiative-transfer code CMFGEN, and assess the impact of the wind on the visible and near-IR interferometric signatures, using both Balmer-line and continuum photons. We observe a visibility decrease in Halpha for both Rigel and Deneb, suggesting that the line-formation region is extended (1.5-1.75 R*). We observe a significant visibility decrease for Deneb in the SiII6371 line. We witness time variations in the differential phase for Deneb, implying an inhomogeneous and unsteady circumstellar environment, while no such variability is seen in differential visibilities. Radiative-transfer modeling of Deneb, with allowance for stellar-wind mass loss, accounts fairly well for the observed decrease in the Halpha visibility. Based on the observed differential visibilities, we estimate that the mass-loss rate of Deneb has changed by less than 5%