219 research outputs found
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
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 gravity: An evidence against the covariant resolution of the Pioneer anomaly
We consider corrections in the form of 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
gives rise to a constant anomalous acceleration for objects orbiting the Sun
onward the Sun. This leads to the conclusion that would have covariantly
resolved the Pioneer anomaly if this value of had not
contradicted other observations.
We notice that the experimental bounds on 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 and in particular . This bound requires
.
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%
Multidisciplinary investigations of a karst reservoir for managed aquifer recharge applications on the island of Vis (Croatia)
Managed aquifer recharge (MAR) refers to a suite of methods by which excess surface water or non-conventional water is stored underground for subsequent recovery or environmental purposes. MAR solutions have been largely used in unconsolidated aquifers, while their application in karst aquifers is rare. This research presents the first results of a MAR viability study on the island of Vis, a small karstic island in the Adriatic Sea. Favorable geological and hydrogeological conditions enable the formation of karst aquifers, making the island autonomous in terms of water supply. The island's main aquifer, exploited in the Korita well field, is protected from seawater intrusion by several hydrogeological barriers. However, climate change and high seasonal pressures related to tourism pose a threat to the future availability of freshwater. Multidisciplinary field and laboratory investigations were carried out to detail the geological and hydrogeological setting of the island and its groundwater resource. Field analyses consisted of groundwater monitoring and sampling, geophysical investigations (i.e., electrical resistivity tomography), and structural measurements. Laboratory analyses included measurements of principal cations and anions and tritium activity. Despite low precipitation during the observation period (September 2019 - December 2020), the groundwater resource at the Korita site showed stable trends of physico-chemical parameters with a good storage potential and a long-term reserve. Geophysical investigations evidenced a relatively homogeneous sequence of the rock mass at a larger scale, while structural analyses indicated the occurrence of E-W karstified and open fractures that could represent a preferential flow path in the carbonate aquifer. A MAR solution for the Vis island was proposed combining an infiltration pond scheme with the direct injection of the accumulated waters into the aquifer using available wells. The potential water source could be represented by the runoff collected in an old artificial channel and the associated pond system in Korita
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