Background: The late-onset cerebellar ataxias (LOCAs) have until recently resisted molecular diagnosis. Contributing to this diagnostic gap is that non-coding structural variations, such as repeat expansions, are not fully accessible to standard short-read sequencing analysis. Methods: We combined bioinformatics analysis of whole-genome sequencing and long-read sequencing to search for repeat expansions in patients with LOCA. We enrolled 66 French-Canadian, 228 German, 20 Australian and 31 Indian patients. Pathogenic mechanisms were studied in post-mortem cerebellum and induced pluripotent stem cell (iPSC)-derived motor neurons from 2 patients. Results: We identified 128 patients who carried an autosomal dominant GAA repeat expansion in the first intron of the FGF14 gene. The expansion was present in 61%, 18%, 15% and 10% of patients in the French-Canadian, German, Australian and Indian cohorts, respectively. The pathogenic threshold was determined to be (GAA)≥250, although incomplete penetrance was observed in the (GAA)250-300 range. Patients developed a slowly progressive cerebellar syndrome at an average age of 59 years. Patient-derived post-mortem cerebellum and induced motor neurons both showed reduction in FGF14 RNA and protein expression compared to controls. Conclusions: This intronic, dominantly inherited GAA repeat expansion in FGF14 represents one of the most common genetic causes of LOCA uncovered to date.

Cognitive impairment is central to many psychiatric conditions and is a determinant factor of functioning. The evaluation of cognition is time-consuming and recourse to it limited by cost, accessibility of expertise, and, in the case of computerized batteries, equipment. The SCIP is a 15 minute paper and pencil evaluation of cognitive function which can be integrated into clinical practice. It is thus a tool which can assist in determining which patients require a more extensive evaluation and can inform the elaboration of a personalized treatment plan. Our group (Groupe Comorbidité psychiatrique et Dimensions) has validated a french translation of the SCIP and is testing the acceptability of its integration into clinical practice in selected clinical populations. We will present preliminary data regarding the use of the SCIP in adult attention deficit disorder. Forty adult patients with attention deficit disorder were invited to participate in the study. In order to maintain a sample representative of clinical practice the only exclusion criteria were inability to speak french and inability to give informed consent. Demographic characteristics were collected, and a multiaxial DSM-IV diagnosis determined by the treating physician, SCIP was administered. The time to administer the SCIP was recorded, and a qualitative questionnaire of patient impressions was completed. We will present preliminary results of this study.

Understanding patterns of influenza spread and persistence is crucial for pandemic preparedness. The H1N1pdm09 virus caused the first influenza pandemic of the 21st century which resulted in at least 18500 deaths. Based on laboratory-confirmed primary-care case reports we investigated the role of weather conditions and socio-demographic variables in its initial spread and subsequent presence in France. Our findings suggest that low relative humidity and high population density were determinants in shaping the early spread of the virus at the national level. Those conditions also favoured the persistence of viral presence throughout the first 33 weeks of the pandemic. Additionally this persistence was significantly favoured by low insolation. These results confirm the increasingly recognized role of humidity in influenza dynamics and underlie the concomitant effect of insolation. Therefore climatic factors should be taken into account when designing influenza control and prevention measures.

We consider a diffeomorphism $f$ of a compact manifold $M$ which is almost Axiom A, i.e. $f$ is hyperbolic in a neighborhood of some compact $f$-invariant set, except in some singular set of neutral points. We prove that if there exists some $f$-invariant set of hyperbolic points with positive unstable Lebesgue measure such that for every point in this set the stable and unstable leaves are ‘long enough’, then $f$ admits an SRB (probability) measure.

The most common method of vibration control is the use of the dynamic absorbers. Two types of absorbers can be found: Linear and nonlinear. The use of linear absorbers allows reducing vibration but only at the resonance frequency, whereas nonlinear absorbers attenuate vibration on a wide band of frequency. In this paper, a nonlinear two degrees of freedom (DOF) model is developed. A cubic nonlinearity induced by a gap is considered. The objective of the paper is to characterize nonlinear vibration of the system by applying explicit formulation (EF). An experimental study is performed to validate the numerical results. The jump phenomenon is the principal nonlinear dynamic phenomenon observed on both numerical and experimental investigations.

Le code de la santé publique et notamment l’arrêté du 11 janvier 2007, relatif auxlimites et références de qualité des eaux brutes et des eaux destinées à la consommationhumaine, fixe quatre indicateurs de la qualité radiologique des eaux du robinet(l’activité αglobale, l’activité β globale, l’activité du tritium et la dose totaleindicative), ainsi que des valeurs guides et des références de qualité. Les chroniquesissues de la surveillance des eaux filtrées du Rhône aval montrent que, si laradioactivité d’origine naturelle demeure bien évidemment constante au cours du temps, lesniveaux de contamination radioactive d’origine artificielle ont fortement diminué à partirdu début des années 90, de 10 à 100 fois suivant les radionucléides. Les donnéessoulignent également qu’aucune des limites d’activités α globale, β globale et en tritium n’aété dépassée dans l’eau filtrée du Rhône aval au cours de l’ère industrielle nucléaire.Les doses totales indicatives (DTI) calculées à partir des prélèvements d’eau filtrée duRhône aval (canal Philippe Lamour – Réseau hydraulique régional propriété de la régionLanguedoc Roussillon géré par BRL), de l’Orb et de l’Hérault effectués en 2011 sont trèsinférieures à la valeur de référence de 100 μSv/an. La contribution à la DTI des radionucléidesartificiels détectés dans ces hydrosystèmes est en outre négligeable (<0,01 %).

Une étude radioécologique a été menée sur les canaux rhodaniens du réseau hydraulique régional propriété de la région Languedoc Roussillon, gérés par BRL. Ces canaux transfèrent de l’eau du fleuve Rhône vers les territoires des départements du Gard et de l’Hérault à des fins d’irrigation et de production d’eau potable. Nos résultats montrent que les caractéristiques hydrauliques intrinsèques des canaux de transport d’eau influent sur la distribution solide/solution des éléments traces en transit et par conséquent sur leur transfert vers les milieux récepteurs. Si les concentrations en phase dissoute (eau filtrée) sont conservées, les concentrations en phase particulaire (matières en suspension et sédiments) sont significativement modifiées au cours du transit. Outre la ségrégation granulométrique des particules entre l’amont et l’aval du système, ces résultats sont très probablement liés à la production biologique autochtone (phyto et zooplancton). Ces résultats originaux soulignent le caractère atypique des canaux de transport d’eau quant au transfert des éléments potentiellement contaminants.

Afin d’évaluer les conséquences des rejets radioactifs provenant des réacteursaccidentés de la centrale nucléaire de Fukushima-Daichi sur l’environnement terrestrefrançais, l’IRSN a renforcé son plan de surveillance en échantillonnant notamment de lavégétation de prairie, du lait et de la viande des troupeaux en pâture entre avril etnovembre 2011. Ces prélèvements et ces mesures ont, entre autres, permis d’évaluer dansdes conditions de dépôts réels la chronologie des transferts du césium-134 de l’herbe aulait et à la viande. Les premières mesures significatives en 134Cs apparaissentdans l’herbe et dans le lait cinq à sept jours après la première mesure significative dansl’air. Les activités maximales atteignent 0,4 Bq.kg–1 d’herbe fraiche et0,028 Bq.L–1 dans le lait. Dans la viande, les premières mesuressignificatives apparaissent mi-avril avec une activité maximale mesurée de 0,036Bq.kg–1, avec de fortes variations d’une espèce animale à une autre. Lescoefficients de transfert moyens calculés sont proches de ceux disponibles dans lalittérature avec 0,22 j.kg–1 pour la viande de mouton, et de 0,09 et0,0014 j.L–1 pour le lait de chèvre et de vache, respectivement.

The Franco-Algerian Monitor of Solar Images (MISOLFA) was developped in order to study the effect of optical turbulence on diameter measurements from ground-based solar observations. Some first results obtained with MISOLFA are presented.

Depending on the extent of evolutionary divergence among parent taxa, hybrids may suffer from a breakdown of co-adapted genes or may conversely exhibit vigour due to the heterosis effect, which confers advantages to increased genetic diversity. That last mechanism could explain the success of hybrids when hybridization zones are large and long lasting, such as in the water frog hybridization complex. In this hybridogenetic system, hybrid individuals exhibit full heterozygosity that makes it possible to investigate in situ the impact of hybridization. We have compared parasite intensity between hybrid Rana esculenta and parental R. lessonae individuals at the tadpole stage in two populations inhabiting contrasted habitats. We estimated intensity of Gyrinicola sp. (Nematoda) in the gut, Echinostome metacercariae in the kidneys and Haplometra cylindracea in the body cavity (both species belong to Trematoda). Despite high sampling effort, no variation in parasite intensity was detected between taxa, except a possible higher tolerance to H. cylindracea in hybrid tadpoles. The low effect of hybridization suggests efficient gene co-adaptation between the two genomes that could result from hemiclonal selection. Variation in infection intensity among ponds could support the Red Queen hypothesis.

Sixty-nine Staphylococcus aureus strains. 39 of which produced staphylococcal enterotoxin B (SEB + ) and 14 of which were associated with toxic shock (TS + ), were studied using the following markers: serotyping, phage typing, antibiotyping. ribotyping, zymotyping and pulsed-field electrophoresis typing. Analysis of the results showed that the enterotoxin B producing strains were derived from at least three clones: the first two consisted of methicillin-susceptible strains, while the third included the methicillin-resistant (MRSA) strains. TS+ strains of non-genital origin appeared to be distributed between the three clones, with no specific characters.

Acanthocephaloides geneticus sp.nov. is described from Arnoglossus laterna (Bothidae) from the Mediterranean littoral (Sète-France). The new species most closely resembles Acanthocephaloides propinquus (Dujardin, 1845) Meyer, 1932, whose type host is Gobius niger (Gobiidae). A genetic comparison of the parasites collected from these two Teleostean fishes has confirmed the value of morphological differences which seemed too slight to raise the populations to species status.

Using biochemical genetic methods, we have distinguished 2 sibling species in the complex Bothrimonus nylandicus (Schneider, 1902), which infest 2 congeneric species of sole (Solea lascaris and Solea impar) on European coasts (Atlantic and Mediterranean). Neither of the parasite species is specific for either of the sole species, but one of them is present all year round, whereas the other is absent in the autumn and winter and only appears in the spring, subsequently disappearing at the end of the summer. Only S. impar lives in the Mediterranean, and is equally infested by both cestodes, whereas both species occur in the Atlantic and each of them is preferentially infested by 1 species of cestode. The shortness of the adult stage of the parasite in the definitive host and the presence of 2 life-cycles associated with competition between the 2 hosts in the Atlantic could be responsible for the biological differences observed and for maintaining the sibling species in sympatry.

In the eastern Mediterranean, the copepod Lepeophtheirus thompsoni Baird, 1850, has been reported to infest turbot, brill and flounder. By combining several methods, including enzyme electrophoresis, we show that this species is found only in turbot. By contrast, brill and flounder are infested by a species of Lepeophtheirus that corresponds to no other species reported in the literature. We propose that the species be designated as L. europaensis and we describe the characteristics of the gravid female. This study was extended to the Atlantic populations of flatfishes and includes an investigation of L. pectoralis (Muller, 1776), which infects flounder in the North Sea; we also confirmed the presence of L. thompsoni (Baird, 1850) over the whole geographic range of turbot. Lastly, we discuss the specificity and distribution of these species along the European coasts.

In the hybrid zone of the two mouse subspecies Mus musculus musculus and Mus musculus domesticus, mice with hybrid genotypes harbour, on the average, more helminth parasites (cestodes and nematodes) than mice of the two parental taxa. In order to determine the roles played by genetic parameters in this phenomenon, mice with recombined and parental genotypes were experimentally infected with the intestinal pinworm Aspiculuris tetraptera, a natural parasite of the house mouse. The results showed that the high susceptibility of the hybrid zone mice is genetically determined. In addition, this study shows the occurrence of variability among resistant parental populations.

In hybridogenetic systems, hybrid individuals are fully heterozygous because one of the parental genomes is discarded from the germinal line before meiosis. Such systems offer the opportunity to investigate the influence of heterozygosity on susceptibility to parasites. We studied the intensity of lung parasites (the roundworm Rhabdias bufomis and the fluke Haplometra cylindracea) in 3 populations of water frogs of the Rana lessonae-esculenta complex in eastern France. In these mixed populations, hybrid frogs (R. esculenta) outnumbered parental ones (R. lessonae). Despite variation in parasite intensity and demographic variability among populations, the relationship between host age and intensity of parasitism suggests a higher susceptibility in parentals than in hybrids. Mortality is probably enhanced by lung parasites in parental frogs. On the other hand, while parental frogs harboured higher numbers of H. cylindracea than hybrid frogs, the latter had higher numbers of R. bufonis. Despite such discrepancies, these results support the hybrid resistance hypothesis, although other factors, such as differences in body size, age-related immunity, differential exposure risks and hemiclonal selection, could also contribute to the observed patterns of infection.