Leucine-Rich Glioma-Inactivated 1 Encephalitis: Broadening the Sphere

Background: Leucine-rich glioma-inactivated 1 (LGI1) encephalitis is a rare entity. Its typical features are seizures, faciobrachial dystonic seizures (FBDS), cognitive impairment, and personality changes. Case report: We report the case of a 66-year-old man with an unusual presentation, consisting of two types of FBDS, one starting in the foot and the other consisting of asynchronous myoclonic and dystonic jerks of the face triggered by noise and chin stimulation. The patient displayed no personality changes or cognitive impairment. Discussion: LGI1 encephalitis is a heterogeneous disease. Many different forms of FBDS may be observed, and these seizures can be the only symptom. This type of encephalitis should be suspected in presenting very frequent episodic events with dystonic features, regardless of the part of the body affected

Uniqueness of multiplicative determinants on elliptic pseudodifferential operators

International audienceWe describe all multiplicative determinants on the pathwise connected component of identity in the group of invertible classical pseudodifferential operators on a closed manifold, that are continuous along continuous paths and the restriction to zero order operators of which is of class C 1. This boils down to a description of all traces on zero order classical pseudodifferential operators, which turn out to be linear combinations of the Wodzicki residue [W] and leading symbol traces introduced in [PR1], both of which are continuous. Consequently, multi-plicative determinants are parametrized by the residue determinant [W87, Sc] and a new "leading symbol determinant", both of which are expressed in terms of a homogeneous component of the symbol of the logarithm of the operator

Analysis of baseline parameters in the HALT polycystic kidney disease trials

HALT PKD consists of two ongoing randomized trials with the largest cohort of systematically studied patients with autosomal dominant polycystic kidney disease to date. Study A will compare combined treatment with an angiotensin-converting inhibitor and receptor blocker to inhibitor alone and standard compared with low blood pressure targets in 558 early-stage disease patients with an eGFR over 60ml/min per 1.73m2. Study B will compare inhibitor-blocker treatment to the inhibitor alone in 486 late-stage patients with eGFR 25–60ml/min per 1.73m2. We used correlation and multiple regression cross-sectional analyses to determine associations of baseline parameters with total kidney, liver, or liver cyst volumes measured by MRI in Study A and eGFR in both studies. Lower eGFR and higher natural log-transformed urine albumin excretion were independently associated with a larger natural log–transformed total kidney volume adjusted for height (ln(HtTKV)). Higher body surface area was independently associated with a higher ln(HtTKV) and lower eGFR. Men had larger height-adjusted total kidney volume and smaller liver cyst volumes than women. A weak correlation was found between the ln(HtTKV) and natural log–transformed total liver volume adjusted for height or natural log liver cyst volume in women only. Women had higher urine aldosterone excretion and lower plasma potassium. Thus, our analysis (1) confirms a strong association between renal volume and functional parameters, (2) shows that gender and other factors differentially affect the development of polycystic disease in the kidney and liver, and (3) suggests an association between anthropomorphic measures reflecting prenatal and/or postnatal growth and disease severity

Transport Infrastructure Surveillance and Monitoring by Electromagnetic Sensing: The ISTIMES Project

The ISTIMES project, funded by the European Commission in the frame of a joint Call “ICT and Security” of the Seventh Framework Programme, is presented and preliminary research results are discussed. The main objective of the ISTIMES project is to design, assess and promote an Information and Communication Technologies (ICT)-based system, exploiting distributed and local sensors, for non-destructive electromagnetic monitoring of critical transport infrastructures. The integration of electromagnetic technologies with new ICT information and telecommunications systems enables remotely controlled monitoring and surveillance and real time data imaging of the critical transport infrastructures. The project exploits different non-invasive imaging technologies based on electromagnetic sensing (optic fiber sensors, Synthetic Aperture Radar satellite platform based, hyperspectral spectroscopy, Infrared thermography, Ground Penetrating Radar-, low-frequency geophysical techniques, Ground based systems for displacement monitoring). In this paper, we show the preliminary results arising from the GPR and infrared thermographic measurements carried out on the Musmeci bridge in Potenza, located in a highly seismic area of the Apennine chain (Southern Italy) and representing one of the test beds of the project

Labraunda 2017

La mission 2017 de Labraunda a été double. Parallèlement à la mission de fouille/documentation/conservation qui s’est déroulée sur le site de Labraunda du 18 juin au 18 août 2017, nous avons inauguré cette année une mission de prospection, pour l’instant modeste, mais qui s’avère très prometteuse. Cette dernière, dont la première édition s’est déroulée pendant les deux semaines qui ont précédé la fouille, a pour objectif d’établir une carte archéologique de la région de Labraunda et de permet..

Retrospective French nationwide survey of childhood aggressive vascular anomalies of bone, 1988-2009

<p>Abstract</p> <p>Objective</p> <p>To document the epidemiological, clinical, histological and radiological characteristics of aggressive vascular abnormalities of bone in children.</p> <p>Study design</p> <p>Correspondents of the French Society of Childhood Malignancies were asked to notify all cases of aggressive vascular abnormalities of bone diagnosed between January 1988 and September 2009.</p> <p>Results</p> <p>21 cases were identified; 62% of the patients were boys. No familial cases were observed, and the disease appeared to be sporadic. Mean age at diagnosis was 8.0 years [0.8-16.9 years]. Median follow-up was 3 years [0.3-17 years]. The main presenting signs were bone fracture (n = 4) and respiratory distress (n = 7), but more indolent onset was observed in 8 cases. Lung involvement, with lymphangiectasies and pleural effusion, was the most frequent form of extraosseous involvement (10/21). Bisphosphonates, alpha interferon and radiotherapy were used as potentially curative treatments. High-dose radiotherapy appeared to be effective on pleural effusion but caused major late sequelae, whereas antiangiogenic drugs like alpha interferon and zoledrenate have had a limited impact on the course of pulmonary complications. The impact of bisphosphonates and alpha interferon on bone lesions was also difficult to assess, owing to insufficient follow-up in most cases, but it was occasionally positive. Six deaths were observed and the overall 10-year mortality rate was about 30%. The prognosis depended mainly on pulmonary and spinal complications.</p> <p>Conclusion</p> <p>Aggressive vascular abnormalities of bone are extremely rare in childhood but are lifethreatening. The impact of anti-angiogenic drugs on pulmonary complications seems to be limited, but they may improve bone lesions.</p

Different Transcriptional Control of Metabolism and Extracellular Matrix in Visceral and Subcutaneous Fat of Obese and Rimonabant Treated Mice

BACKGROUND: The visceral (VAT) and subcutaneous (SCAT) adipose tissues play different roles in physiology and obesity. The molecular mechanisms underlying their expansion in obesity and following body weight reduction are poorly defined. METHODOLOGY: C57Bl/6 mice fed a high fat diet (HFD) for 6 months developed low, medium, or high body weight as compared to normal chow fed mice. Mice from each groups were then treated with the cannabinoid receptor 1 antagonist rimonabant or vehicle for 24 days to normalize their body weight. Transcriptomic data for visceral and subcutaneous adipose tissues from each group of mice were obtained and analyzed to identify: i) genes regulated by HFD irrespective of body weight, ii) genes whose expression correlated with body weight, iii) the biological processes activated in each tissue using gene set enrichment analysis (GSEA), iv) the transcriptional programs affected by rimonabant. PRINCIPAL FINDINGS: In VAT, "metabolic" genes encoding enzymes for lipid and steroid biosynthesis and glucose catabolism were down-regulated irrespective of body weight whereas "structure" genes controlling cell architecture and tissue remodeling had expression levels correlated with body weight. In SCAT, the identified "metabolic" and "structure" genes were mostly different from those identified in VAT and were regulated irrespective of body weight. GSEA indicated active adipogenesis in both tissues but a more prominent involvement of tissue stroma in VAT than in SCAT. Rimonabant treatment normalized most gene expression but further reduced oxidative phosphorylation gene expression in SCAT but not in VAT. CONCLUSION: VAT and SCAT show strikingly different gene expression programs in response to high fat diet and rimonabant treatment. Our results may lead to identification of therapeutic targets acting on specific fat depots to control obesity

Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study

Background Huntington's disease is caused by a CAG repeat expansion in the huntingtin gene, HTT. Age at onset has been used as a quantitative phenotype in genetic analysis looking for Huntington's disease modifiers, but is hard to define and not always available. Therefore, we aimed to generate a novel measure of disease progression and to identify genetic markers associated with this progression measure. Methods We generated a progression score on the basis of principal component analysis of prospectively acquired longitudinal changes in motor, cognitive, and imaging measures in the 218 indivduals in the TRACK-HD cohort of Huntington's disease gene mutation carriers (data collected 2008–11). We generated a parallel progression score using data from 1773 previously genotyped participants from the European Huntington's Disease Network REGISTRY study of Huntington's disease mutation carriers (data collected 2003–13). We did a genome-wide association analyses in terms of progression for 216 TRACK-HD participants and 1773 REGISTRY participants, then a meta-analysis of these results was undertaken. Findings Longitudinal motor, cognitive, and imaging scores were correlated with each other in TRACK-HD participants, justifying use of a single, cross-domain measure of disease progression in both studies. The TRACK-HD and REGISTRY progression measures were correlated with each other (r=0·674), and with age at onset (TRACK-HD, r=0·315; REGISTRY, r=0·234). The meta-analysis of progression in TRACK-HD and REGISTRY gave a genome-wide significant signal (p=1·12 × 10−10) on chromosome 5 spanning three genes: MSH3, DHFR, and MTRNR2L2. The genes in this locus were associated with progression in TRACK-HD (MSH3 p=2·94 × 10−8 DHFR p=8·37 × 10−7 MTRNR2L2 p=2·15 × 10−9) and to a lesser extent in REGISTRY (MSH3 p=9·36 × 10−4 DHFR p=8·45 × 10−4 MTRNR2L2 p=1·20 × 10−3). The lead single nucleotide polymorphism (SNP) in TRACK-HD (rs557874766) was genome-wide significant in the meta-analysis (p=1·58 × 10−8), and encodes an aminoacid change (Pro67Ala) in MSH3. In TRACK-HD, each copy of the minor allele at this SNP was associated with a 0·4 units per year (95% CI 0·16–0·66) reduction in the rate of change of the Unified Huntington's Disease Rating Scale (UHDRS) Total Motor Score, and a reduction of 0·12 units per year (95% CI 0·06–0·18) in the rate of change of UHDRS Total Functional Capacity score. These associations remained significant after adjusting for age of onset. Interpretation The multidomain progression measure in TRACK-HD was associated with a functional variant that was genome-wide significant in our meta-analysis. The association in only 216 participants implies that the progression measure is a sensitive reflection of disease burden, that the effect size at this locus is large, or both. Knockout of Msh3 reduces somatic expansion in Huntington's disease mouse models, suggesting this mechanism as an area for future therapeutic investigation

Estimating the risk of coalescence in membrane emulsification

International audienceIn order to optimise the membrane emulsification process, there is a need for a model that can be used to keep the production time of an emulsion to a minimum, without impairing its quality. This was the aim of our work. For that, we have studied the influence of transmembrane pressure on the fraction of active pores and on the drop diameter and the drop diameter distribution. We have found that an increase in transmembrane pressure makes it possible to increase the dispersed phase flux by a rise in the number of active pores (from 1 to 13% for the 0.2 µm membrane and from 2% to 45% and 49% for the 0.5 and 0.8 µm membranes, respectively). Furthermore, the increase in transmembrane pressure leads to an increase in the diameter of the droplets produced. For the 0.5 and 0.8 µm pore diameter, we have even found an increase in the polydispersity of the emulsion produced. A thorough study allowed us to locate the origin of this polydispersity: we ruled out post-production coalescence both in the bulk and in the laminar sub-layer. We showed the possibility of the expansion of the three-phase contact line over more than one pore, phenomenon we referred to as membrane coalescence. Based on these results, we built a model which allows to evaluate the risk of membrane coalescence under experimental conditions of dispersed phase flux and transmembrane pressure: the number of active pores at a distance dd/2 from the centre of a given active pore must be less than 2. For the three pore diameter membranes studied, our model matched the experimental results and could explain the polydispersity observed