Développement d'un outil d'évaluation de l'équilibre assis chez les individus ayant une lésion à la moelle épinière: Une étude exploratoire

Travail d'intégration réalisé dans le cadre du cours PHT-6113.Contexte : Les individus ayant une lésion de la moelle épinière (LMÉ) exécutent la majorité de leurs activités de la vie quotidienne en position assise. La stabilité posturale du tronc est donc une composante importante. Conséquemment, le manque de méthode d’évaluation de l’équilibre assis limite les résultats au niveau de la recherche d’interventions efficaces. Objectifs : Obtenir un portrait actuel de l’état des connaissances sur les outils d’évaluation et les traitements disponibles et suggérer des items clés pouvant être intégrés dans une première phase du développement d’un test standardisé de l’équilibre assis chez les individus ayant une LMÉ. Méthode : Une recension des tests d’équilibre assis existants pour d'autres populations a permis la création d’une banque d’items. Des items de cette banque ont été sélectionnés et d’autres ont été créés en fonction des composantes de l’équilibre assis et de la population ciblée. Les items ont ensuite été échelonnés par ordre de difficulté et les cotations ont été déterminées pour chaque item. Résultats : Un test standardisé de l’équilibre assis pour les individus ayant une LMÉ de 12 items a été proposé. Chaque item a une cote de 0 à 4 pour un score total de 56. Conclusion : Les retombés anticipées du test sont d’objectiver l’évaluation de l’équilibre assis, de connaître le risque de chute, de déterminer le niveau de supervision requis, d’évaluer l’efficacité des traitements et d’être sensible à la variabilité de la population des individus ayant une LMÉ

Compositional meta-analysis of the nutrient profile of potato cultivars

While several potato (Solanum tuberosum L.) cultivars of different maturity groups (e.g. early, mid-season, late) are being selected each year as a result of successful breeding for disease resistance and market requirements, their nutrient management is based on past experience and few experiments. Nutrient profiles from leaf analysis can guide fertilization and liming programs of potato cultivars. Since leaf analytical data are strictly positive and compositional, nutrient profiling using raw data is spoiled by non normal distribution, resonance and spurious correlations. Compositional data analysis provides log ratio transformations that avoid such problems. Our objective was to derive nutrient profiles from tissue analysis using isometric log ratio (ilr) coordinates and meta-analysis for classification of cultivars into uniform nutrient management groups. The dataset comprised 678 potato fields producing more than 28.5 Mg marketable tuber ha-1, i.e. above Quebec average, of the early-, mid-, and late-season cultivars. The first mature leaf from top was sampled at the beginning of flowering for N, P, K, Ca, and Mg analysis. Anionic (N, P) and cationic (K, Ca, Mg) nutrients were arranged into binary partitions representing positive and negative nutrient interactions. Groups of cultivars were compared to ‘Superior’ using ilr mean and standard deviation in the mixed model of meta-analysis. We minimized the within-group heterogeneity (I2 value) by allocating cultivars iteratively between ilr groups. We derived group-specific ilr norms to compute the Aitchison distance. The critical value for nutrient imbalance was 0.38. To guide correcting nutrient deficiencies with appropriate nutrient management techniques, nutrient composition can be altered numerically by a perturbation vector on nutrients that lead to the largest and most negative ilr differences from ilr norms until the Aitchison distance falls below critical value

A collaborative model to implement flexible, accessible and efficient oncogenetic services for hereditary breast and ovarian cancer : the C-MOnGene study

Medical genetic services are facing an unprecedented demand for counseling and testing for hereditary breast and ovarian cancer (HBOC) in a context of limited resources. To help resolve this issue, a collaborative oncogenetic model was recently developed and implemented at the CHU de Québec-Université Laval; Quebec; Canada. Here, we present the protocol of the C-MOnGene (Collaborative Model in OncoGenetics) study, funded to examine the context in which the model was implemented and document the lessons that can be learned to optimize the delivery of oncogenetic services. Within three years of implementation, the model allowed researchers to double the annual number of patients seen in genetic counseling. The average number of days between genetic counseling and disclosure of test results significantly decreased. Group counseling sessions improved participants' understanding of breast cancer risk and increased knowledge of breast cancer and genetics and a large majority of them reported to be overwhelmingly satisfied with the process. These quality and performance indicators suggest this oncogenetic model offers a flexible, patient-centered and efficient genetic counseling and testing for HBOC. By identifying the critical facilitating factors and barriers, our study will provide an evidence base for organizations interested in transitioning to an oncogenetic model integrated into oncology care; including teams that are not specialized but are trained in genetics

Search for dark matter produced in association with bottom or top quarks in √s = 13 TeV pp collisions with the ATLAS detector

A search for weakly interacting massive particle dark matter produced in association with bottom or top quarks is presented. Final states containing third-generation quarks and miss- ing transverse momentum are considered. The analysis uses 36.1 fb−1 of proton–proton collision data recorded by the ATLAS experiment at √s = 13 TeV in 2015 and 2016. No significant excess of events above the estimated backgrounds is observed. The results are in- terpreted in the framework of simplified models of spin-0 dark-matter mediators. For colour- neutral spin-0 mediators produced in association with top quarks and decaying into a pair of dark-matter particles, mediator masses below 50 GeV are excluded assuming a dark-matter candidate mass of 1 GeV and unitary couplings. For scalar and pseudoscalar mediators produced in association with bottom quarks, the search sets limits on the production cross- section of 300 times the predicted rate for mediators with masses between 10 and 50 GeV and assuming a dark-matter mass of 1 GeV and unitary coupling. Constraints on colour- charged scalar simplified models are also presented. Assuming a dark-matter particle mass of 35 GeV, mediator particles with mass below 1.1 TeV are excluded for couplings yielding a dark-matter relic density consistent with measurements

Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

Background: We previously reported that impaired type I IFN activity, due to inborn errors of TLR3- and TLR7-dependent type I interferon (IFN) immunity or to autoantibodies against type I IFN, account for 15–20% of cases of life-threatening COVID-19 in unvaccinated patients. Therefore, the determinants of life-threatening COVID-19 remain to be identified in ~ 80% of cases. Methods: We report here a genome-wide rare variant burden association analysis in 3269 unvaccinated patients with life-threatening COVID-19, and 1373 unvaccinated SARS-CoV-2-infected individuals without pneumonia. Among the 928 patients tested for autoantibodies against type I IFN, a quarter (234) were positive and were excluded. Results: No gene reached genome-wide significance. Under a recessive model, the most significant gene with at-risk variants was TLR7, with an OR of 27.68 (95%CI 1.5–528.7, P = 1.1 × 10−4) for biochemically loss-of-function (bLOF) variants. We replicated the enrichment in rare predicted LOF (pLOF) variants at 13 influenza susceptibility loci involved in TLR3-dependent type I IFN immunity (OR = 3.70[95%CI 1.3–8.2], P = 2.1 × 10−4). This enrichment was further strengthened by (1) adding the recently reported TYK2 and TLR7 COVID-19 loci, particularly under a recessive model (OR = 19.65[95%CI 2.1–2635.4], P = 3.4 × 10−3), and (2) considering as pLOF branchpoint variants with potentially strong impacts on splicing among the 15 loci (OR = 4.40[9%CI 2.3–8.4], P = 7.7 × 10−8). Finally, the patients with pLOF/bLOF variants at these 15 loci were significantly younger (mean age [SD] = 43.3 [20.3] years) than the other patients (56.0 [17.3] years; P = 1.68 × 10−5). Conclusions: Rare variants of TLR3- and TLR7-dependent type I IFN immunity genes can underlie life-threatening COVID-19, particularly with recessive inheritance, in patients under 60 years old