Ocean-Atmosphere Application Scheduling within DIET

In this report, we tackle the problem of scheduling an Ocean-Atmosphere application in an heterogeneous environment. The application is used for long term climate forecast. In this context, we analyzed the execution of an experiment. An experiment is composed of several identical simulations composed of parallel tasks. On homogeneous platforms, we propose a heuristic and its optimizations, all based on the same idea: we divide the processors into disjoint sets, each group executing parallel tasks. On heterogeneous platforms the algorithm presented is applied on subsets of simulations. The computation of the subsets is done greedily and aims at minimizing the execution time by sending each subset on a cluster. We performed experiments on the french research grid \emph{Grid'5000} which exhibited some technical difficulties. We also present some modifications done to the heuristics to minimize the impact of these technical difficulties. Our simulations are then validated by experimentations

PPERFORMANCE EVALUATION OF TWO MIPS FOR THE SPE-LC-UV DETERMINATION OF p-[18F]MPPF IN PLASMA

FP6 STRP 516984 MI-lab-on-chi

Molecular composition of clouds: a comparison between samples collected at tropical (Réunion Island, France) and mid-north (Puy de Dôme, France) latitudes

The composition of dissolved organic matter of cloud water has been investigated through non-targeted high-resolution mass spectrometry on only a few samples that were mostly collected in the Northern Hemisphere in the USA, Europe and China. There remains, therefore, a lack of measurements for clouds located in the Southern Hemisphere, under tropical conditions and influenced by forest emissions. As a matter of fact, the comparison of the composition of clouds collected in different locations is challenging since the methodology for the analysis and data treatment is not standardized. In this work, the chemical composition of three samples collected at Réunion Island (REU) during the BIO-MAÏDO field campaign, in the Indian Ocean, with influences from marine, anthropogenic and biogenic (tropical) emissions, is investigated and compared to the chemical composition of samples collected at the Puy de Dôme (PUY) observatory in France. The same methodology of analysis and data treatment was employed, producing a unique dataset for the investigation of the molecular composition of organic matter in cloud water. Besides the analysis of elemental composition, we investigated the carbon oxidation state (OSC) of dissolved organic matter, finding that overall samples collected at PUY are more oxidized than those collected at REU. Molecular formulas were also classified based on stoichiometric elemental ratios, showing the high frequency and abundance of reduced organic compounds, classified as lipids (LipidC), in this matrix, which led to a search for terpene oxidation products in cloud water samples. To better discriminate between samples collected at PUY and REU, statistical analysis (principal component analysis and agglomerative hierarchical clustering) was performed on the ensemble of molecular formulas and their intensities. Samples collected at REU have a different composition from samples collected at PUY, which is mainly linked to different primary sources, the processing of organic matter in cloud water and the influence of different primary emissions at the two locations.</p

Rescue of fragile X syndrome phenotypes in Fmr1 KO mice by a BKCa channel opener molecule.

International audienc

Pyxel 1.0: an open source Python framework for detector and end-to-end instrument simulation

Detector modeling is becoming more and more critical for the development of new instruments in scientific space missions and ground-based experiments. Modeling tools are often developed from scratch by each individual project and not necessarily shared for reuse by a wider community. To foster knowledge transfer, reusability, and reliability in the instrumentation community, we developed Pyxel, a framework for the simulation of scientific detectors and instruments. Pyxel is an open-source and collaborative project, based on Python, developed as an easy-to-use tool that can host and pipeline any kind of detector effect model. Recently, Pyxel has achieved a new milestone: the public release and launch of version 1.0, which simplified third-party contributions and improved ease of use even further. Since its launch, Pyxel has been experiencing a growing user community and is being used to simulate a variety of detectors. We give a tour of Pyxel’s version 1.0 changes and new features, including a new interface, parallel computing, and new detectors and models. We continue with an example of using Pyxel as a tool for model optimization and calibration. Finally, we describe an example of how Pyxel and its features can be used to develop a full-scale end-to-end instrument simulator

DEVELOPMENT AND VALIDATION OF A METHOD FOR THE LC DETERMINATION p-[18F]MPPF IN PLASMA USING A MISPE

Peer reviewe

PURA-Related Developmental and Epileptic Encephalopathy Phenotypic and Genotypic Spectrum

Background and Objectives Purine-rich element-binding protein A (PURA) gene encodes Pur-α, a conserved protein essential for normal postnatal brain development. Recently, a PURA syndrome characterized by intellectual disability, hypotonia, epilepsy, and dysmorphic features was suggested. The aim of this study was to define and expand the phenotypic spectrum of PURA syndrome by collecting data, including EEG, from a large cohort of affected patients. Methods Data on unpublished and published cases were collected through the PURA Syndrome Foundation and the literature. Data on clinical, genetic, neuroimaging, and neurophysiologic features were obtained. Results A cohort of 142 patients was included. Characteristics of the PURA syndrome included neonatal hypotonia, feeding difficulties, and respiratory distress. Sixty percent of the patients developed epilepsy with myoclonic, generalized tonic-clonic, focal seizures, and/or epileptic spasms. EEG showed generalized, multifocal, or focal epileptic abnormalities. Lennox-Gastaut was the most common epilepsy syndrome. Drug refractoriness was common: 33.3% achieved seizure freedom. We found 97 pathogenic variants in PURA without any clear genotype-phenotype associations. Discussion The PURA syndrome presents with a developmental and epileptic encephalopathy with characteristics recognizable from neonatal age, which should prompt genetic screening. Sixty percent have drug-resistant epilepsy with focal or generalized seizures. We collected more than 90 pathogenic variants without observing overt genotype-phenotype associations

Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity

ADP ribosylation factor guanine nucleotide exchange factors (ARFGEFs) are a family of proteins implicated in cellular trafficking between the Golgi apparatus and the plasma membrane through vesicle formation. Among them is ARFGEF1/BIG1, a protein involved in axon elongation, neurite development, and polarization processes. ARFGEF1 has been previously suggested as a candidate gene for different types of epilepsies, although its implication in human disease has not been well characterized. International data sharing, in silico predictions, and in vitro assays with minigene study, western blot analyses, and RNA sequencing. We identified 13 individuals with heterozygous likely pathogenic variants in ARFGEF1. These individuals displayed congruent clinical features of developmental delay, behavioral problems, abnormal findings on brain magnetic resonance image (MRI), and epilepsy for almost half of them. While nearly half of the cohort carried de novo variants, at least 40% of variants were inherited from mildly affected parents who were clinically re-evaluated by reverse phenotyping. Our in silico predictions and in vitro assays support the contention that ARFGEF1-related conditions are caused by haploinsufficiency, and are transmitted in an autosomal dominant fashion with variable expressivity. We provide evidence that loss-of-function variants in ARFGEF1 are implicated in sporadic and familial cases of developmental delay with or without epilepsy

Extending the clinical spectrum of X-linked Tonne-Kalscheuer syndrome (TOKAS):new insights from the fetal perspective

INTRODUCTION: Tonne-Kalscheuer syndrome (TOKAS) is a recessive X-linked multiple congenital anomaly disorder caused by RLIM variations. Of the 41 patients reported, only 7 antenatal cases were described.METHOD: After the antenatal diagnosis of TOKAS by exome analysis in a family followed for over 35 years because of multiple congenital anomalies in five male fetuses, a call for collaboration was made, resulting in a cohort of 11 previously unpublished cases.RESULTS: We present a TOKAS antenatal cohort, describing 11 new cases in 6 French families. We report a high frequency of diaphragmatic hernia (9 of 11), differences in sex development (10 of 11) and various visceral malformations. We report some recurrent dysmorphic features, but also pontocerebellar hypoplasia, pre-auricular skin tags and olfactory bulb abnormalities previously unreported in the literature. Although no clear genotype-phenotype correlation has yet emerged, we show that a recurrent p.(Arg611Cys) variant accounts for 66% of fetal TOKAS cases. We also report two new likely pathogenic variants in RLIM, outside of the two previously known mutational hotspots.CONCLUSION: Overall, we present the first fetal cohort of TOKAS, describe the clinical features that made it a recognisable syndrome at fetopathological examination, and extend the phenotypical spectrum and the known genotype of this rare disorder.</p