Le score PESI simplifié est-il un index de gravité des patients admis aux urgences pour un motif non traumatologique?

Introduction : le score PESI simplifié (sPESI) est un score pronostique de la mortalité des patients atteints d une embolie pulmonaire. L objectif de ce travail était de déterminer si le score sPESI était prédictif de la mortalité à 3 mois des patients admis aux Urgences pour un motif respiratoire ou cardio-vasculaire. Méthode : étude rétrospective portant sur une cohorte de 2137 patients admis pour un motif non traumatique aux Urgences du CHU d Angers. Les patients étaient regroupés selon leur motif d admission et diagnostic retenu à la sortie d hospitalisation. Un lien était recherché entre le taux de mortalité à 3 mois et la valeur du score sPESI. Résultats : le taux de mortalité des 701 patients admis pour un motif respiratoire ou cardio-vasculaire ayant un score sPESI égal à 0 était de 2,1% contre un taux de mortalité de 14,5% (p<0.05) pour les patients ayant un score sPESI supérieur à 0 ; l aire sous la courbe ROC valait 0,74. Dans la population totale, le taux de mortalité des patients à bas risque de mortalité selon le score sPESI était de 2,9% contre un taux de 15.4% (p<0.05) chez les patients à haut risque avec une AUC égale à 0,74. Conclusion : le score PESI est prédictif de la mortalité à 3 mois des patients admis aux Urgences pour un motif respiratoire ou cardio-vasculaire et des patients de l ensemble de notre population.ANGERS-BU Médecine-Pharmacie (490072105) / SudocSudocFranceF

Likelihood and Bayesian analyses reveal major genes affecting body composition, carcass, meat quality and the number of false teats in a Chinese European pig line

Segregation analyses were performed using both maximum likelihood – via a Quasi Newton algorithm – (ML-QN) and Bayesian – via Gibbs sampling – (Bayesian-GS) approaches in the Chinese European Tiameslan pig line. Major genes were searched for average ultrasonic backfat thickness (ABT), carcass fat (X2 and X4) and lean (X5) depths, days from 20 to 100 kg (D20100), Napole technological yield (NTY), number of false (FTN) and good (GTN) teats, as well as total teat number (TTN). The discrete nature of FTN was additionally considered using a threshold model under ML methodology. The results obtained with both methods consistently suggested the presence of major genes affecting ABT, X2, NTY, GTN and FTN. Major genes were also suggested for X4 and X5 using ML-QN, but not the Bayesian-GS, approach. The major gene affecting FTN was confirmed using the threshold model. Genetic correlations as well as gene effect and genotype frequency estimates suggested the presence of four different major genes. The first gene would affect fatness traits (ABT, X2 and X4), the second one a leanness trait (X5), the third one NTY and the last one GTN and FTN. Genotype frequencies of breeding animals and their evolution over time were consistent with the selection performed in the Tiameslan line

Rethinking harm reduction in the digital age

Introduction : La démultiplication des substances psychoactives, la transformation des pratiques de consommation, l’inadéquation des services pour les jeunes et le virage technologique pris par les consommateurs, tant pour acheter que s’informer sur les substances, incitent à repenser l’intervention en réduction des méfaits. Objectifs : L’étude vise à explorer l’intérêt et la faisabilité d’utiliser les technologies de l’information et des communications (TIC) pour prévenir des consommations plus intensives et réduire les dommages chez les jeunes adultes consommateurs en situation de grande vulnérabilité sociale. Méthodes : Elle utilise une approche de recherche communautaire basée sur des groupes de discussion menés auprès de jeunes consommateurs de 18 à 29 ans et d’intervenants œuvrant auprès des jeunes en difficultés dans la région de Québec. Résultats : Les TIC constituent un outil privilégié d’approvisionnement et d’échange d’informations sur les substances parmi les jeunes. Elles s’insèrent dans un contexte de lacunes dans les ressources existantes. En réponse, les participants suggèrent le développement d’une plateforme interactive spécialisée et actualisée d’échange d’informations sur les substances en circulation et la façon de gérer leurs consommations et les situations d’urgence. Pour les intervenants, les TIC sont peu exploitées pour des échanges en lien avec les substances illicites et jugées délicates à manipuler sur ces questions sensibles. Elles sont néanmoins perçues comme pouvant pallier un déficit de connaissances et de compétences pour aborder ces sujets complexes avec les jeunes. Des enjeux émergents liés aux inégalités d’accès au numérique, de littératie avec les TIC, éthiques et juridiques. Conclusion : Les TIC sont bien implantées dans le travail des intervenants et la vie des jeunes consommateurs. Elles sont des outils complémentaires, probablement incontournables à l’ère du numérique et de la complexification des marchés et des modes de consommation.Introduction : Ever-changing psychoactive substances, changes in consumption habits, services inadequacy and technological advances stresses the need to innovate in regards of harm reduction interventions. Objectives: This study aims to explore the interest and feasibility of using information and communication technologies (ICT) to prevent intensive drug use and reduce harm in socially vulnerable young adults’ drug users. Methods: Using a community research approach based on focus groups with young drug users aged 18 to 29 years old and community workers working with at-risk youths. Results: Young adults widely use ICT to obtain and exchange information regarding drugs. With regard to further technological development in harm reduction, participants perceive ICT as a mean of filling current gaps in services. Participants suggest developing a specialized interactive information exchange platform about current drugs and substance abuse management, especially emergencies and crisis. Community workers did not think young drug users used ICT regarding drugs for other means than acquiring products and found their adequate use regarding harm reduction rather delicate. Nevertheless, they saw a potential in ICT to spread information and facilitate discussion about complicated issues with youths. Conclusion: ICT are well entranched in the lives of young drug users and in community workers’ practices. ICT are complementary and inevitable in the digital age and in an era of complexification of drug market and habits.Introducción : La desmultiplicación de sustancias psicoactivas, la transformación de las prácticas de consumo, la inadecuación de los servicios para los jóvenes y el viraje tecnológico efectuado por los consumidores ya sea para comprar o para informarse sobre las sustancias, incitan a repensar la intervención en materia de reducción de delitos. Objetivos: El estudio apunta a explorar el interés para utilizar las tecnologías de información y de comunicaciones (TIC) y la factibilidad de su uso para prevenir consumos más intensivos y reducir los daños entre los jóvenes adultos consumidores en situación de gran vulnerabilidad social. Métodos: El estudio utiliza un enfoque de investigación comunitaria basada en grupos de discusión organizados entre jóvenes consumidores de entre 18 y 29 años y con la participación de agentes que actúan entre los jóvenes con dificultades en la región de Quebec. Resultados: Las TIC constituyen una herramienta privilegiada de suministro y de intercambio de informaciones sobre las sustancias entre los jóvenes y se integran en un contexto de lagunas en los recursos existentes, En respuesta, los participantes sugieren el desarrollo de una plataforma interactiva especializada y actualizada de intercambio de información sobre las sustancias en circulación y la manera como los jóvenes pueden manejar su consumo y las situaciones de urgencia. Para los agentes participantes, las TIC son poco exploradas en los intercambios relacionados con las sustancias ilícitas y se las juzga delicadas a manipular en materia de estas cuestiones sensibles. Se percibe sin embargo que podrían paliar un déficit de conocimientos y de competencias para abordar estos temas complejos con los jóvenes. Hay cuestiones emergentes relacionadas con las desigualdades de acceso a las tecnologías digitales, de conocimiento para manejar las TIC y de conocimiento de cuestiones éticas y jurídicas. Conclusión: Las TIC están bien implantadas en el trabajo de los agentes participantes y en la vida de los jóvenes consumidores. Son herramientas complementarias, probablemente inevitables en la era digital y de complejización de los mercados y los modos de consumo

Joint analysis of quantitative trait loci and major-effect causative mutations affecting meat quality and carcass composition traits in pigs

Background: Detection of quantitative trait loci (QTLs) affecting meat quality traits in pigs is crucial for the design of efficient marker-assisted selection programs and to initiate efforts toward the identification of underlying polymorphisms. The RYR1 and PRKAG3 causative mutations, originally identified from major effects on meat characteristics, can be used both as controls for an overall QTL detection strategy for diversely affected traits and as a scale for detected QTL effects. We report on a microsatellite-based QTL detection scan including all autosomes for pig meat quality and carcass composition traits in an F2 population of 1,000 females and barrows resulting from an intercross between a Pietrain and a Large White-Hampshire-Duroc synthetic sire line. Our QTL detection design allowed side-by-side comparison of the RYR1 and PRKAG3 mutation effects seen as QTLs when segregating at low frequencies (0.03-0.08), with independent QTL effects detected from most of the same population, excluding any carrier of these mutations.[br/] Results: Large QTL effects were detected in the absence of the RYR1 and PRKGA3 mutations, accounting for 12.7% of phenotypic variation in loin colour redness CIE-a* on SSC6 and 15% of phenotypic variation in glycolytic potential on SSC1. We detected 8 significant QTLs with effects on meat quality traits and 20 significant QTLs for carcass composition and growth traits under these conditions. In control analyses including mutation carriers, RYR1 and PRKAG3 mutations were detected as QTLs, from highly significant to suggestive, and explained 53% to 5% of the phenotypic variance according to the trait.[br/] Conclusions: Our results suggest that part of muscle development and backfat thickness effects commonly attributed to the RYR1 mutation may be a consequence of linkage with independent QTLs affecting those traits. The proportion of variation explained by the most significant QTLs detected in this work is close to the influence of major-effect mutations on the least affected traits, but is one order of magnitude lower than effect on variance of traits primarily affected by these causative mutations. This suggests that uncovering physiological traits directly affected by genetic polymorphisms would be an appropriate approach for further characterization of QTLs

Genetic variants and early cigarette smoking and nicotine dependence phenotypes in adolescents

Background: While the heritability of cigarette smoking and nicotine dependence (ND) is well-documented, the contribution of specific genetic variants to specific phenotypes has not been closely examined. The objectives of this study were to test the associations between 321 tagging single-nucleotide polymorphisms (SNPs) that capture common genetic variation in 24 genes, and early smoking and ND phenotypes in novice adolescent smokers, and to assess if genetic predictors differ across these phenotypes. Methods: In a prospective study of 1294 adolescents aged 12–13 years recruited from ten Montreal-area secondary schools, 544 participants who had smoked at least once during the 7–8 year follow-up provided DNA. 321 single-nucleotide polymorphisms (SNPs) in 24 candidate genes were tested for an association with number of cigarettes smoked in the past 3 months, and with five ND phenotypes (a modified version of the Fagerstrom Tolerance Questionnaire, the ICD-10 and three clusters of ND symptoms representing withdrawal symptoms, use of nicotine for self-medication, and a general ND/craving symptom indicator). Results: The pattern of SNP-gene associations differed across phenotypes. Sixteen SNPs in seven genes (ANKK1, CHRNA7, DDC, DRD2, COMT, OPRM1, SLC6A3 (also known as DAT1)) were associated with at least one phenotype with a p-value ,0.01 using linear mixed models. After permutation and FDR adjustment, none of the associations remained statistically significant, although the p-values for the association between rs557748 in OPRM1 and the ND/craving and selfmedication phenotypes were both 0.076. Conclusions: Because the genetic predictors differ, specific cigarette smoking and ND phenotypes should be distinguished in genetic studies in adolescents. Fifteen of the 16 top-ranked SNPs identified in this study were from loci involved in dopaminergic pathways (ANKK1/DRD2, DDC, COMT, OPRM1, and SLC6A3). Impact: Dopaminergic pathways may be salient during early smoking and the development of ND

Identification of QTL with effects on intramuscular fat content and fatty acid composition in a Duroc × Large White cross

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Pyruvate kinase deficiency confers susceptibility to Salmonella typhimurium infection in mice

The mouse response to acute Salmonella typhimurium infection is complex, and it is under the influence of several genes, as well as environmental factors. In a previous study, we identified two novel Salmonella susceptibility loci, Ity4 and Ity5, in a (AcB61 × 129S6)F2 cross. The peak logarithm of odds score associated with Ity4 maps to the region of the liver and red blood cell (RBC)–specific pyruvate kinase (Pklr) gene, which was previously shown to be mutated in AcB61. During Plasmodium chabaudi infection, the Pklr mutation protects the mice against this parasite, as indicated by improved survival and lower peak parasitemia. Given that RBC defects have previously been associated with resistance to malaria and susceptibility to Salmonella, we hypothesized that Pklr is the gene underlying Ity4 and that it confers susceptibility to acute S. typhimurium infection in mice. Using a fine mapping approach combined with complementation studies, comparative studies, and functional analysis, we show that Pklr is the gene underlying Ity4 and that it confers susceptibility to acute S. typhimurium infection in mice through its effect on the RBC turnover and iron metabolism

Validation of a model to predict adverse outcomes in patients with pulmonary embolism

Aims To validate a model for quantifying the prognosis of patients with pulmonary embolism (PE). The model was previously derived from 10 534 US patients. Methods and results We validated the model in 367 patients prospectively diagnosed with PE at 117 European emergency departments. We used baseline data for the model's 11 prognostic variables to stratify patients into five risk classes (I-V). We compared 90-day mortality within each risk class and the area under the receiver operating characteristic curve between the validation and the original derivation samples. We also assessed the rate of recurrent venous thrombo-embolism and major bleeding within each risk class. Mortality was 0% in Risk Class I, 1.0% in Class II, 3.1% in Class III, 10.4% in Class IV, and 24.4% in Class V and did not differ between the validation and the original derivation samples. The area under the curve was larger in the validation sample (0.87 vs. 0.78, P=0.01). No patients in Classes I and II developed recurrent thrombo-embolism or major bleeding. Conclusion The model accurately stratifies patients with PE into categories of increasing risk of mortality and other relevant complications. Patients in Risk Classes I and II are at low risk of adverse outcomes and are potential candidates for outpatient treatmen

Authenticated DNA from Ancient Wood Remains

• Background The reconstruction of biological processes and human activities during the last glacial cycle relies mainly on data from biological remains. Highly abundant tissues, such as wood, are candidates for a genetic analysis of past populations. While well-authenticated DNA has now been recovered from various fossil remains, the final ‘proof' is still missing for wood, despite some promising studies. • Scope The goal of this study was to determine if ancient wood can be analysed routinely in studies of archaeology and palaeogenetics. An experiment was designed which included blind testing, independent replicates, extensive contamination controls and rigorous statistical tests. Ten samples of ancient wood from major European forest tree genera were analysed with plastid DNA markers. • Conclusions Authentic DNA was retrieved from wood samples up to 1000 years of age. A new tool for real-time vegetation history and archaeology is ready to us