298 research outputs found
Résolution des contraintes géométriques
National audienceLa modélisation par contraintes définit les objets géométriques (typiquement, en 2D, les points, droites, cercles, coniques, etc) par les contraintes qu'ils doivent vérifier (distances, angles, tangences, incidences, etc. entre paires d'objets). L'exposé tente de faire le point sur les diverses méthodes proposées à ce jour pour la résolution des contraintes, en 2D ou en 3D. Les méthodes algébriques transforment les contraintes en un système d'équations, et recourent ensuite à des méthodes numériques (relaxation, Newton-Raphson) [4] ou symboliques (bases de Grobner, méthode de Wu et Ritt) [5,3]. Les méthodes géométriques décomposent le système de contraintes en problèmes géométriques élémentaires (solubles à la règle et au compas par exemple) ; la décomposition est effectuée soit par des manipulations de graphes [1,6] soit par un moteur d'inférence [7], soit par un langage tel prolog [2]
Human Computation and Convergence
Humans are the most effective integrators and producers of information,
directly and through the use of information-processing inventions. As these
inventions become increasingly sophisticated, the substantive role of humans in
processing information will tend toward capabilities that derive from our most
complex cognitive processes, e.g., abstraction, creativity, and applied world
knowledge. Through the advancement of human computation - methods that leverage
the respective strengths of humans and machines in distributed
information-processing systems - formerly discrete processes will combine
synergistically into increasingly integrated and complex information processing
systems. These new, collective systems will exhibit an unprecedented degree of
predictive accuracy in modeling physical and techno-social processes, and may
ultimately coalesce into a single unified predictive organism, with the
capacity to address societies most wicked problems and achieve planetary
homeostasis.Comment: Pre-publication draft of chapter. 24 pages, 3 figures; added
references to page 1 and 3, and corrected typ
Collective Spin Fluctuation Mode and Raman Scattering in Superconducting Cuprates
Although the low frequency electronic Raman response in the superconducting
state of the cuprates can be largely understood in terms of a d-wave energy
gap, a long standing problem has been an explanation for the spectra observed
in the polarization orientations. We present calculations which
suggest that the peak position of the observed spectra is due to a
collective spin fluctuation mode.Comment: 4 pages, 5 eps figure
Anisotropic conductivity of Nd_{1.85}Ce_{0.15}CuO_{4-\delta} films at submillimeter wavelengths
The anisotropic conductivity of thin NdCeCuO
films was measured in the frequency range 8 cm 40 cm and
for temperatures 4 K K. A tilted sample geometry allowed to extract
both, in-plane and c-axis properties. The in-plane quasiparticle scattering
rate remains unchanged as the sample becomes superconducting. The temperature
dependence of the in-plane conductivity is reasonably well described using the
Born limit for a d-wave superconductor. Below T_{{\rm C}%} the c-axis
dielectric constant changes sign at the screened c-axis plasma
frequency. The temperature dependence of the c-axis conductivity closely
follows the linear in T behavior within the plane.Comment: 4 pages, 4 figure
Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities.
Epilepsia. 2007 Sep;48(9):1678-85. Epub 2007 Jun 11.
Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities.
Marini C, Mei D, Temudo T, Ferrari AR, Buti D, Dravet C, Dias AI, Moreira A, Calado E, Seri S, Neville B, Narbona J, Reid E, Michelucci R, Sicca F, Cross HJ, Guerrini R.
SourceEpilepsy, Neurophysiology and Neurogenetic Unit, Institute of Child Neurology and Psychiatry, IRCCS Stella Maris Foundation, Calambrone, Pisa, Italy.
Abstract
PURPOSE: SCN1A is the most clinically relevant epilepsy gene, most mutations lead to severe myoclonic epilepsy of infancy (SMEI) and generalized epilepsy with febrile seizures plus (GEFS+). We studied 132 patients with epilepsy syndromes with seizures precipitated by fever, and performed phenotype-genotype correlations with SCN1A alterations.
METHODS: We included patients with SMEI including borderline SMEI (SMEB), GEFS+, febrile seizures (FS), or other seizure types precipitated by fever. We performed a clinical and genetic study focusing on SCN1A, using dHPLC, gene sequencing, and MLPA to detect genomic deletions/duplications on SMEI/SMEB patients.
RESULTS: We classified patients as: SMEI/SMEB = 55; GEFS+= 26; and other phenotypes = 51. SCN1A analysis by dHPLC/sequencing revealed 40 mutations in 37 SMEI/SMEB (67%) and 3 GEFS+ (11.5%) probands. MLPA showed genomic deletions in 2 of 18 SMEI/SMEB. Most mutations were de novo (82%). SMEB patients carrying mutations (8) were more likely to have missense mutations (62.5%), conversely SMEI patients (31) had more truncating, splice site or genomic alterations (64.5%). SMEI/SMEB with truncating, splice site or genomic alterations had a significantly earlier age of onset of FS compared to those with missense mutations and without mutations (p = 0.00007, ANOVA test). None of the remaining patients with seizures precipitated by fever carried SCN1A mutations.
CONCLUSION: We obtained a frequency of 71%SCN1A abnormalities in SMEI/SMEB and of 11.5% in GEFS+ probands. MLPA complements DNA sequencing of SCN1A increasing the mutation detection rate. SMEI/SMEB with truncating, splice site or genomic alterations had a significantly earlier age of onset of FS. This study confirms the high sensitivity of SCN1A for SMEI/SMEB phenotypes
Treatment with metformin in twelve patients with Lafora disease
Background: Lafora disease (LD) is a rare, lethal, progressive myoclonus epilepsy for which no targeted therapy is currently available. Studies on a mouse model of LD showed a good response to metformin, a drug with a well known neuroprotective effect. For this reason, in 2016, the European Medicines Agency granted orphan designation to metformin for the treatment of LD. However, no clinical data is available thus far. Methods: We retrospectively collected data on LD patients treated with metformin referred to three Italian epilepsy centres. Results: Twelve patients with genetically confirmed LD (6 EPM2A, 6 NHLRC1) at middle/late stages of disease were treated with add-on metformin for a mean period of 18 months (range: 6-36). Metformin was titrated to a mean maintenance dose of 1167 mg/day (range: 500-2000 mg). In four patients dosing was limited by gastrointestinal side-effects. No serious adverse events occurred. Three patients had a clinical response, which was temporary in two, characterized by a reduction of seizure frequency and global clinical improvement. Conclusions: Metformin was overall safe in our small cohort of LD patients. Even though the clinical outcome was poor, this may be related to the advanced stage of disease in our cases and we cannot exclude a role of metformin in slowing down LD progression. Therefore, on the grounds of the preclinical data, we believe that treatment with metformin may be attempted as early as possible in the course of LD
Results From an Italian Expanded Access Program on Cannabidiol Treatment in Highly Refractory Dravet Syndrome and Lennox-Gastaut Syndrome.
The 5th International Lafora Epilepsy Workshop: Basic science elucidating therapeutic options and preparing for therapies in the clinic
Lafora disease (LD) is both a fatal childhood epilepsy and a glycogen storage disease caused by recessive mutations in either the Epilepsy progressive myoclonus 2A (EPM2A) or EPM2B genes. Hallmarks of LD are aberrant, cytoplasmic carbohydrate aggregates called Lafora bodies (LBs) that are a disease driver. The 5th International Lafora Epilepsy Workshop was recently held in Alcala de Henares, Spain. The workshop brought together nearly 100 clinicians, academic and industry scientists, trainees, National Institutes of Health (NIH) representation, and friends and family members of patients with LD. The workshop covered aspects of LD ranging from defining basic scientific mechanisms to elucidating a LD therapy or cure and a recently launched LD natural history study
Gene Expression Profiles of Chicken Embryo Fibroblasts in Response to Salmonella Enteritidis Infection
The response of chicken to non-typhoidal Salmonella infection is becoming well characterised but the role of particular cell types in this response is still far from being understood. Therefore, in this study we characterised the response of chicken embryo fibroblasts (CEFs) to infection with two different S. Enteritidis strains by microarray analysis. The expression of chicken genes identified as significantly up- or down-regulated (≥3-fold) by microarray analysis was verified by real-time PCR followed by functional classification of the genes and prediction of interactions between the proteins using Gene Ontology and STRING Database. Finally the expression of the newly identified genes was tested in HD11 macrophages and in vivo in chickens. Altogether 19 genes were induced in CEFs after S. Enteritidis infection. Twelve of them were also induced in HD11 macrophages and thirteen in the caecum of orally infected chickens. The majority of these genes were assigned different functions in the immune response, however five of them (LOC101750351, K123, BU460569, MOBKL2C and G0S2) have not been associated with the response of chicken to Salmonella infection so far. K123 and G0S2 were the only 'non-immune' genes inducible by S. Enteritidis in fibroblasts, HD11 macrophages and in the caecum after oral infection. The function of K123 is unknown but G0S2 is involved in lipid metabolism and in β-oxidation of fatty acids in mitochondria
- …