Université catholique de Louvain

About: Université catholique de Louvain is a education organization based out in Louvain-la-Neuve, Belgium. It is known for research contribution in the topics: Population & Large Hadron Collider. The organization has 25319 authors who have published 57360 publications receiving 2172080 citations. The organization is also known as: University of Louvain & UCLouvain.

Parkes Weber syndrome, vein of galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations

Abstract: Capillary malformation-arteriovenous malformation (CM-AVM) is a newly recognized autosomal dominant disorder, caused by mutations in the RASA1 gene in six families. Here we report 42 novel RASA1 mutations and the associated phenotype in 44 families. The penetrance and de novo occurrence were high. All affected individuals presented multifocal capillary malformations (CMs), which represent the hallmark of the disorder. Importantly, one-third had fast-flow vascular lesions. Among them, we observed severe intracranial AVMs, including vein of Galen aneurysmal malformation, which were symptomatic at birth or during infancy, extracranial AVM of the face and extremities, and Parkes Weber syndrome (PKWS), previously considered sporadic and nongenetic. These fast-flow lesions can be differed from the other two genetic AVMs seen in hereditary hemorrhagic telangiectasia (HHT) and in phosphatase and tensin homolog (PTEN) hamartomatous tumor syndrome. Finally, some CM-AVM patients had neural tumors reminiscent of neurofibromatosis type 1 or 2. This is the first extensive study on the phenotypes associated with RASA1 mutations, and unravels their wide heterogeneity.

An optimized multi-proxy, multi-site Antarctic ice and gas orbital chronology (AICC2012): 120--800 ka

Abstract: An accurate and coherent chronological framework is essential for the interpretation of climatic and environmental records obtained from deep polar ice cores. Until now, one common ice core age scale had been developed based on an inverse dating method (Datice), combining glaciological modelling with absolute and stratigraphic markers between 4 ice cores covering the last 50 ka (thousands of years before present) (Lemieux-Dudon et al., 2010). In this paper, together with the companion paper of Veres et al. (2013), we present an extension of this work back to 800 ka for the NGRIP, TALDICE, EDML, Vostok and EDC ice cores using an improved version of the Datice tool. The AICC2012 (Antarctic Ice Core Chronology 2012) chronology includes numerous new gas and ice stratigraphic links as well as improved evaluation of background and associated variance scenarios. This paper concentrates on the long timescales between 120-800 ka. In this framework, new measurements of δ18Oatm over Marine Isotope Stage (MIS) 11-12 on EDC and a complete δ18Oatm record of the TALDICE ice cores permit us to derive additional orbital gas age constraints. The coherency of the different orbitally deduced ages (from δ18Oatm, δO2/N2 and air content) has been verified before implementation in AICC2012. The new chronology is now independent of other archives and shows only small differences, most of the time within the original uncertainty range calculated by Datice, when compared with the previous ice core reference age scale EDC3, the Dome F chronology, or using a comparison between speleothems and methane. For instance, the largest deviation between AICC2012 and EDC3 (5.4 ka) is obtained around MIS 12. Despite significant modifications of the chronological constraints around MIS 5, now independent of speleothem records in AICC2012, the date of Termination II is very close to the EDC3 one.

Detecting outliers in frontier models : a simple approach.

Abstract: In frontier analysis, most of the nonparametric approaches (DEA, FDH) are based on envelopment ideas which suppose that with probability one, all the observed units belong to the attainable set. In these "deterministic'' frontier models, statistical theory is now mostly available (Simar and Wilson, 2000a). In the presence of superefficient outliers, envelopment estimators could behave dramatically since they are very sensitive to extreme observations. Some recent results from Cazals et al. (2002) on robust nonparametric frontier estimators may be used in order to detect outliers by de. ning a new DEA/FDH "deterministic'' type estimator which does not envelop all the data points and so is more robust to extreme data points. In this paper, we summarize the main results of Cazals et al. (2002) and we show how this tool can be used for detecting outliers when using the classical DEA/FDH estimators or any parametric techniques. We propose a methodology implementing the tool and we illustrate through some numerical examples with simulated and real data. The method should be used in a first step, as an exploratory data analysis, before using any frontier estimation.