Формирование эмоциональной культуры как компонента инновационной культуры студентов

Homozygosity has long been associated with rare, often devastating, Mendelian disorders1 and Darwin was one of the first to recognise that inbreeding reduces evolutionary fitness2. However, the effect of the more distant parental relatedness common in modern human populations is less well understood. Genomic data now allow us to investigate the effects of homozygosity on traits of public health importance by observing contiguous homozygous segments (runs of homozygosity, ROH), which are inferred to be homozygous along their complete length. Given the low levels of genome-wide homozygosity prevalent in most human populations, information is required on very large numbers of people to provide sufficient power3,4. Here we use ROH to study 16 health-related quantitative traits in 354,224 individuals from 102 cohorts and find statistically significant associations between summed runs of homozygosity (SROH) and four complex traits: height, forced expiratory lung volume in 1 second (FEV1), general cognitive ability (g) and educational attainment (nominal p<1 × 10−300, 2.1 × 10−6, 2.5 × 10−10, 1.8 × 10−10). In each case increased homozygosity was associated with decreased trait value, equivalent to the offspring of first cousins being 1.2 cm shorter and having 10 months less education. Similar effect sizes were found across four continental groups and populations with different degrees of genome-wide homozygosity, providing convincing evidence for the first time that homozygosity, rather than confounding, directly contributes to phenotypic variance. Contrary to earlier reports in substantially smaller samples5,6, no evidence was seen of an influence of genome-wide homozygosity on blood pressure and low density lipoprotein (LDL) cholesterol, or ten other cardio-metabolic traits. Since directional dominance is predicted for traits under directional evolutionary selection7, this study provides evidence that increased stature and cognitive function have been positively selected in human evolution, whereas many important risk factors for late-onset complex diseases may not have been

Investigating determinants of yawning in the domestic (Equus caballus) and Przewalski (Equus ferus przewalskii) horses

International audienceYawning is rare in herbivores which therefore may be an interesting group to disentangle the potential function(s) of yawning behaviour. Horses provide the opportunity to compare not only animals living in different conditions but also wild versus domestic species. Here, we tested three hypotheses by observing both domestic and Przewalski horses living in semi-natural conditions: (i) that domestic horses may show an elevated rate of yawning as a result of the domestication process (or as a result of life conditions), (ii) that individuals experiencing a higher level of social stress would yawn more than individuals with lower social stress and (iii) that males would yawn more often than females. The study involved 19 Przewalski horses (PHs) and 16 domestic horses (DHs) of different breeds living in large outdoor enclosures. The results showed that there was no difference between the PH and DH in yawning frequency (YF). PHs exhibited much higher levels of social interactions than DHs. There was a positive correlation between yawning frequency and aggressive behaviours in PHs, especially males, supporting the idea that yawning may be associated with more excitatory/stressful social situations. A correlation was found between yawning frequency and affiliative behaviours in DHs, which supports the potential relationship between yawning and social context. Finally, the entire males, but not castrated males, showed much higher levels of yawning than females in both species. The intensity (rather than the valence) of the interaction may be important in triggering yawning, which could therefore be a displacement activity that helps reduce tension

GWAS meta-analysis of intrahepatic cholestasis of pregnancy implicates multiple hepatic genes and regulatory elements

Intrahepatic cholestasis of pregnancy (ICP) is a pregnancy-specific liver disorder affecting 0.5–2% of pregnancies. The majority of cases present in the third trimester with pruritus, elevated serum bile acids and abnormal serum liver tests. ICP is associated with an increased risk of adverse outcomes, including spontaneous preterm birth and stillbirth. Whilst rare mutations affecting hepatobiliary transporters contribute to the aetiology of ICP, the role of common genetic variation in ICP has not been systematically characterised to date. Here, we perform genome-wide association studies (GWAS) and meta-analyses for ICP across three studies including 1138 cases and 153,642 controls. Eleven loci achieve genome-wide significance and have been further investigated and fine-mapped using functional genomics approaches. Our results pinpoint common sequence variation in liver-enriched genes and liver-specific cis-regulatory elements as contributing mechanisms to ICP susceptibility

Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function.

Reduced glomerular filtration rate defines chronic kidney disease and is associated with cardiovascular and all-cause mortality. We conducted a meta-analysis of genome-wide association studies for estimated glomerular filtration rate (eGFR), combining data across 133,413 individuals with replication in up to 42,166 individuals. We identify 24 new and confirm 29 previously identified loci. Of these 53 loci, 19 associate with eGFR among individuals with diabetes. Using bioinformatics, we show that identified genes at eGFR loci are enriched for expression in kidney tissues and in pathways relevant for kidney development and transmembrane transporter activity, kidney structure, and regulation of glucose metabolism. Chromatin state mapping and DNase I hypersensitivity analyses across adult tissues demonstrate preferential mapping of associated variants to regulatory regions in kidney but not extra-renal tissues. These findings suggest that genetic determinants of eGFR are mediated largely through direct effects within the kidney and highlight important cell types and biological pathways

Development of a Tool to Evaluate Staff Requests for Funding Support to Attend Conferences

INTRODUCTIONExternal conferences continue to play an integral part in most educational programs for pharmacy staff. Although they are not the only component of such programs, the value of networking, sharing of ideas, and stimulation obtained through attendence at conferences should not be underestimated. However, with decreases in travel budgets — if they exist at all — the absence of travel assistance in most written contracts, and the decreasing availability of travel grants, there is a need to look at funding policies for attending external conferences. 1 Amalgamation into one provincial pharmacy program within the Alberta Cancer Board provided the opportunity for us to compare the existing internal policies of the pharmacy departments of the Tom Baker Cancer Centre and the Cross Cancer Institute and to develop a single consensus framework. The issue of external conference funding was discussed by a team consisting of 5 members from our pharmacy department, representing administration, specialty practice, general practice, pharmacist and technician perspectives. The objective was to formulate one process for a provincial department of pharmacy. The approach of the development team was to ascertain the organizational rules that pertained and to benchmark other colleagues’ practices, since the medical literature on this topic is sparse.1 The final result of this work is shared in this paper

Vinorelbine in advanced non-small-cell lung cancer: Has a survival benefit been achieved in clinical practice?

ABSTRACTPurpose: Vinorelbine used in conjunction with cisplatin in advanced, inoperable non-small-cell lung cancer has been linked to a survival advantage in this otherwise terminal disease. Survival outcomes achieved in clinical trials, however, may not be matched in practice thus necessitating this practical evaluation.Methods: A provincial evaluation of all patients treated with this regimen from September 1994 to July 1996 was conducted by chart review. Survival data was analyzed by the Kaplan-Meier methodology.Results: The median survival time and survival rate observed in this practical evaluation was comparable to that achieved in an earlier clinical trial. A paradoxical trend between lower dose intensity of both vinorelbine and cisplatin and improved survival was noted (p&lt;0.0005). Hematological toxicity was common.Conclusion: A survival advantage of vinorelbine and cisplatin in this population when compared with best supportive care was observed.Further investigations of different doses and schedules as well as quality of life assessments would complement the finding of this study.RÉSUMÉObjectif : L'administration conjointe de vinorelbine et de cisplatine dans les cas de cancer du poumon à grandes cellules inopérable a été associée à une meilleure survie clans ces cas de maladie autrement fatale. Cependant, ces avantages au plan de la de survie observés lors des essais cliniques pourraient ne pas être reproductibles dans la pratique. C'est pourquoi cette évaluation pratique est nécessaire.Méthode : Une évaluation de tous les patients traités par cette association médicamenteuse de septembre 1994 à juillet 1996 a été menée dans la province, à partir de l'analyse des dossiers médicaux des patients. Les données sur la survie ont été analysées au moyen de la méthode de Kaplan-Meyer.Résultats : Le temps de survie et le taux de survie moyens notés au cours de cette évaluation pratique étaient comparables à ceux observés lors des essais cliniques antérieurs. Une tendance paradoxale entre de faibles doses de vinorelbine et de cisplatine et une amélioration de la survie a été notée (p &lt; 0,0005). L'hématotoxicité était courante.Conclusion : On a remarqué un avantage au plan de la survie avec l'administration conjointe de vinorelbine et de cisplatine dans cette population, en comparaison aux meilleurs soins de soutien. Des études de doses et de schémas posologiques plus poussées el des évaluations de la qualité de vie viendraient compléter les résultats de cette étude