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.

The aim of the study is to validate an enlarged version of the Lie/Bet questionnaire for screening pathological gambling behaviour (Johnson, Hamer & Nora, 1998) in French. This version of the Lie/Bet has the following features: it was enlarged with one item derived from de CAGE screening for alcoholism (Ewing, 1984) and items were rated on a 4-points scale ranging from ‘All the time’ to ‘Never’ instead of being rated on a ‘Yes/No’ scale. The addition of the third item meets the need for a measure of social irritability about gambling. The use of 4-options responses scales is motivated by the necessity to measure severity of problem gambling and allow parametric epidemiological analysis. The study was conducted on three samples: one group of people concerned with gambling who participated to an online survey about gambling (N= 36), one group of out patients (N=33) and one group of respondents to the Swiss Health Survey 2007 (N=75). Analyses were conducted to measure internal consistency and convergent validity of the instrument. Results show good internal consistency of the enlarged Lie/Bet as well as good convergent validity.

Introduction: In the province of Québec, roughly 20% of the population lives in rural areas. Rural emergency departments (EDs) face different challenges than their urban counterparts. Yet, few studies have sought to understand these challenges. This study aims to survey Québec’s emergency physicians to: 1) identify problems specific to rural EDs, 2) find solutions for improving accessibility and quality of care offered in rural regions and, 3) rank solutions in order of priority. These results will allow data triangulation with other of our studies that seek to identify challenges faced by rural EDs and potential solutions. Methods: During the 2016 annual conference of the Québec Emergency Physicians’ Association, we asked physicians and residents (including those from urban EDs), to complete a survey about the challenges faced by rural EDs. The survey contained two sections. The first took the form of open-ended questions in which respondents could write three challenges about accessibility and quality of care in rural EDs (objective 1) and three solutions to address these challenges (objective 2). The second section listed 11 potential solutions identified in our previous study. The solutions were ranked based on their priority level on a five-point Likert scale that ranged from “not a priority” to “an absolute priority” (objective 3). We added the total number of points for each solution and produced a ranking list. Results: Ninety-one physicians out of the 417 at the conference completed the survey; 58% came from urban EDs and 42% from rural EDs. Open-ended questions suggest that access to specialists and interfacility transfers are the principal challenges faced by rural EDs. The top five solutions identified as the highest priorities were: 1) care protocols, 2) improvement of interfacility transfers, 3) training with simulators, 4) targeted ultrasound and, 5) implementation of staff retention and recruitment strategies. Conclusion: This study is relevant and useful as roughly a quarter of attendants at the conference spontaneously volunteered to help identify and prioritize solutions to foster the accessibility and quality of care in rural EDs. Furthermore, it represents a stepping stone for our recently-launched wide-scope study, Urgences Rurales 360, that aims to explore problems faced by every of the 28 rural EDs in Québec and the solutions that could be implemented to resolve them.

Studies in rodents, nonhuman primates, and humans suggest that epigenetic processes mediate between early life experiences and adult phenotype. However, the normal evolution of epigenetic programs during child development, the effect of sex, and the impact of early life adversity on these trajectories are not well understood. This study mapped the genome-wide DNA methylation changes in CD3+ T lymphocytes from rhesus monkeys from postnatal day 14 through 2 years of age in both males and females and determined the impact of maternal deprivation on the DNA methylation profile. We show here that DNA methylation profiles evolve from birth to adolescence and are sex dependent. DNA methylation changes accompany imposed weaning, attenuating the difference between males and females. Maternal separation at birth alters the normal evolution of DNA methylation profiles and targets genes that are also affected by a later stage maternal separation, that is, weaning. Our results suggest that early life events dynamically interfere with the normal developmental evolution of the DNA methylation profile and that these changes are highly effected by sex.

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.

Background: It has been hypothesized that [18F]-sodium fluoride (NaF) uptake imaged with positron emission tomography (PET) binds to hydroxyapatite molecules expressed in regions with active calcification. Therefore, we aimed to validate NaF as a marker of hydroxyapatite expression in high-risk carotid plaque. Methods: Eleven patients (69 ± 5 years, 3 female) scheduled for carotid endarterectomy were prospectively recruited for NaF PET/CT. One patient received a second contralateral endarterectomy; two patients were excluded (intolerance to contrast media and PET/CT misalignment). The bifurcation of the common carotid was used as the reference point; NaF uptake (tissue to blood ratio - TBR) was measured at every PET slice extending 2 cm above and below the bifurcation. Excised plaque was immunostained with Goldner’s Trichrome and whole-slide digitized images were used to quantify hydroxyapatite expression. Pathology was co-registered with PET. Results: NaF uptake was related to the extent of hydroxyapatite expression (r=0.45, p<0.001). Upon classifying bilateral plaque for symptomatology, symptomatic plaque was associated with cerebrovascular events (3.75±1.1 TBR, n=9) and had greater NaF uptake than clinically silent asymptomatic plaque (2.79±0.6 TBR, n=11) (p=0.04). Conclusion: NaF uptake is related to hydroxyapatite expression and is increased in plaque associated with cerebrovascular events. NaF may serve as a novel biomarker of active calcification and plaque vulnerability.

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.

The observations made in Japan in 2011 after the Fukushima-Daiichi accident and those made in France, Italy, Greece and Austria in 1986 after the Chernobyl fallout, show that the development stage of orchard trees at the time of atmospheric deposition is a major factor determining the level of caesium contamination in fruits at harvest. Both data sets are shown to be consistent and enable one to estimate, for mobile elements in plants such as caesium, an aggregated transfer factor (expressed in Bq.kg-1 of fresh fruit per Bq.m-2 deposited on the ground surface) whose value strongly depends on the time elapsed between fallout and harvest. The Fukushima data set also enables one to estimate effective half-lives (expressed in days), which are helpful for predicting the decrease in fruit contamination with time. We found an average value of 200 days for the one-year period after radioactive fallout, which is quite consistent with values estimated from post-Chernobyl surveys.

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.

This article proposes an assessment of the ingestion doses potentially received by peopleliving in the Japanese areas most severely affected by the radioactive deposits due to theFukushima nuclear accident. The assessment distinguishes two consecutive periods: thefirst 2 months (March 15th to May 15th 2011) and the rest of the year 2011, according tothe two main foodstuff contamination periods identified (Renaud et al.,2013). On the basis of the worst-case hypothesis that can reasonably be made, theestimated doses are much lower than they might have been in other circumstances, onaccount of generally moderate levels of contamination for most foods, early evacuation ofthe most severely affected areas and the consumption bans ordered by the Japaneseauthorities. Thus, a single ingestion of 100 g of leafy vegetables in the early days by aone-year-old child living in non-evacuated localities near Iitate and Kawamata could haveled to an equivalent dose to the thyroid of about 25 mSv; and to a thyroid dose of about140 mSv for the rather unrealistic scenario of a daily consumption. Because of the rapiddecrease in the contamination of vegetables and a much weaker contamination of othercrops, and thanks to measures taken by the authorities (prohibition of consumption, use ofcertain fodder, etc.), the ingestion doses potentially received during the remainder ofthe year 2011 are estimated to be below 1 mSv. In the event that sales limits would havebeen ignored, only repeated consumption of mushrooms would have led to doses above thatlevel. Even with the worst-case hypotheses, the doses potentially caused by ingestion aremuch lower than those resulting from outdoor exposure to radioactive deposits:approximately several millisieverts in a year for the population living in thenon-evacuated localities near Iitate and Kawamata.

During and after the Fukushima accident, the IRSN collected and interpreted the resultsof radiological measurements performed on foodstuffs of terrestrial origin published byJapan's Ministry of Health between mid-March 2011 and July 2012. Analysis of the findingsshows that the accident's date, livestock-rearing practices and the deposits'characteristics had a decisive influence. The fact that radioactive fallout occurred veryearly in the growing and breeding season largely explains the moderate contamination ofmost foodstuffs of terrestrial origin, notably in the areas with the largest deposits. Inthe case of dairy products and meat, feeding imported fodder to livestock in stables, acommon practice in Japan, compounded the calendar effect. Measurements published in Japanhave also borne out the particular sensitivity of mushrooms, including cultivated species,and game.

High-precision analysis using accelerator mass spectrometry (AMS) was performed upon known-age Holocene and modern, pre-bomb coral samples to generate a marine reservoir age correction value (ΔR) for the Houtman-Abrolhos Archipelago (28.7°S, 113.8°E) off the Western Australian coast. The mean ΔR value calculated for the Abrolhos Islands, 54 ± 30 yr (1 σ) agrees well with regional ΔR values for Leeuwin Current source waters (N-NW Australia-Java) of 60 ± 38 yr. The Abrolhos Islands show little variation with ΔR values of the northwestern and north Australian coast, underlining the dominance of the more equilibrated western Pacific-derived waters of the Leeuwin Current over local upwelling. The Abrolhos Islands ΔR values have remained stable over the last 2896 cal yr BP, being also attributed to the Leeuwin Current and the El Niño Southern Oscillation (ENSO) signal during this period. Expected future trends will be a strengthening of the teleconnection of the Abrolhos Islands to the climatic patterns of the equatorial Pacific via enhanced ENSO and global warming activity strengthening the Leeuwin Current. The possible effect upon the trend of future ΔR values may be to maintain similar values and an increase in stability. However, warming trends of global climate change may cause increasing dissimilarity of ΔR values due to the effects of increasing heat stress upon lower-latitude coral communities.

In 2011 the IRSN conducted several assessments of atmosphericradioactive releases due to the Fukushima Daiichi NPP accident (March11, 2011) and of their impact on Japan’s terrestrial environment.They were based on the IRSN’s emergency management tools and onthe abundant information and technical data gradually publishedin Japan. According to these assessments, the main release phaselasted from March 12 to 25, 2011 and impacted Japanese land in twoevents, the first on 15 and 16 March, in which the main radioactivedeposits were formed, and the second from March 20 to 23, whichwas less significant. The highest amounts of radioactive deposits werefound in an area extending upwards of several tens of kilometersnorthwest of the plant. Lower amounts were discontinuously scatteredin an area extending up to over 250 km away. Initially composedmainly of short-lived radionuclides, the deposits’ activity sharplydecreased in the subsequent weeks. Since the summer of 2011, cesium-134and cesium-137 have become the residual deposits’ main components.According to IRSN estimates, in the absence of protection, the dosesdue to exposure to the radioactive plume during the atmosphericrelease phase may have been potentially higher for people who remainedin coastal areas up to several tens of kilometers north and southof the damaged plant. Thereafter, people living up to 50 km northwestof the plant, outside the 20-km emergency evacuation zone, were potentiallymost vulnerable to residual radioactive deposits over time.

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.