How Demographics, Devices, and Course Characteristics Impact Introductory Psychology Course Outcomes during COVID-19

We explored factors predicting student learning outcomes (N=1303) in online Introductory Psychology sections at an open-enrollment college in the Northeastern United States in Fall 2020. Students from historically underserved groups were more likely to struggle on course outcomes, perhaps reflecting the disproportionate impact of COVID-19. Use of desktops/laptops on assignments predicted higher pass rates and quiz grades. Scores on quizzes tended to be higher in smaller class sections. Findings suggest certain students are already at-risk at the semester’s start, students should use desktops/laptops for online coursework when possible, and smaller online class sizes correlate with better performance on low-stakes outcomes

Large-scale mapping of mutations affecting zebrafish development

BACKGROUND: Large-scale mutagenesis screens in the zebrafish employing the mutagen ENU have isolated several hundred mutant loci that represent putative developmental control genes. In order to realize the potential of such screens, systematic genetic mapping of the mutations is necessary. Here we report on a large-scale effort to map the mutations generated in mutagenesis screening at the Max Planck Institute for Developmental Biology by genome scanning with microsatellite markers. RESULTS: We have selected a set of microsatellite markers and developed methods and scoring criteria suitable for efficient, high-throughput genome scanning. We have used these methods to successfully obtain a rough map position for 319 mutant loci from the Tübingen I mutagenesis screen and subsequent screening of the mutant collection. For 277 of these the corresponding gene is not yet identified. Mapping was successful for 80 % of the tested loci. By comparing 21 mutation and gene positions of cloned mutations we have validated the correctness of our linkage group assignments and estimated the standard error of our map positions to be approximately 6 cM. CONCLUSION: By obtaining rough map positions for over 300 zebrafish loci with developmental phenotypes, we have generated a dataset that will be useful not only for cloning of the affected genes, but also to suggest allelism of mutations with similar phenotypes that will be identified in future screens. Furthermore this work validates the usefulness of our methodology for rapid, systematic and inexpensive microsatellite mapping of zebrafish mutations

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

Distinguishing Effects of Executive Functions on Literacy Skills in Adolescents

This study investigated direct and indirect effects of executivefunctions (EF) on reading comprehension in 87 adolescents(mean age = 14.0 years, SD = 1.5). The operation span taskwas used to measure the updating aspect of working memory,the plus-minus task to measure task-switching, and thenumerical Stroop task to measure inhibitory control. Literacyskills tasks assessed nonword decoding, text recall/inference,and passage comprehension. Regression models indicated thatEF measures accounted for significant variance in literacyskills after controlling for age and fluid intelligence. Workingmemory was associated with passage comprehension, task-switching with nonword decoding, and inhibitory control withnonword decoding as well as text recall/inference. Parallelmediation models tested for indirect effects of EF constructsvia decoding and text recall/inference. Working memoryshowed direct and indirect effects on passage comprehension,the latter mediated by text recall/inference. Task-switchingwas associated with decoding, but its relation to passagecomprehension was not significant. Inhibitory control showedindirect effects on passage comprehension via decoding andtext recall/inference. Results indicate overlapping but distinctcontributions of EF to literacy skills

Evidence for epistasis between SLC6A4 and ITGB3 in autism etiology and in the determination of platelet serotonin levels

Abstract Autism is a neurodevelopmental disorder of unclear etiology. The consistent finding of platelet hyperserotonemia in a proportion of patients and its heritability within affected families suggest that genes involved in the serotonin system play a role in this disorder. The role in autism etiology of seven candidate genes in the serotonin metabolic and neurotransmission pathways and mapping to autism linkage regions (SLC6A4, HTR1A, HTR1D, HTR2A, HTR5A, TPH1 and ITGB3) was analyzed in a sample of 186 nuclear families. The impact of interactions among these genes in autism was assessed using the multifactor-dimensionality reduction (MDR) method in 186 patients and 181 controls. We further evaluated whether the effect of specific gene variants or gene interactions associated with autism etiology might be mediated by their influence on serotonin levels, using the quantitative transmission disequilibrium test (QTDT) and the restricted partition method (RPM), in a sample of 109 autistic children. We report a significant main effect of the HTR5A gene in autism (P = 0.0088), and a significant three-locus model comprising a synergistic interaction between the ITGB3 and SLC6A4 genes with an additive effect of HTR5A (P < 0.0010). In addition to the previously reported contribution of SLC6A4, we found significant associations of ITGB3 haplotypes with serotonin level distribution (P = 0.0163). The most significant models contributing to serotonin distribution were found for interactions between TPH1 rs4537731 and SLC6A4 haplotypes (P = 0.002) and between HTR1D rs6300 and SLC6A4 haplotypes (P = 0.013). In addition to the significant independent effects, evidence for interaction between SLC6A4 and ITGB3 markers was also found. The overall results implicate SLC6A4 and ITGB3 gene interactions in autism etiology and in serotonin level determination, providing evidence for a common underlying genetic mechanism and a molecular explanation for the association of platelet hyperserotonemia with autism

Embolia pulmonar decorrente de coriocarcinoma metastático com apresentação atípica Pulmonary embolism resulting from metastatic choriocarcinoma with atypical presentation: report of a case

É apresentado o caso de uma paciente de 36 anos, com coriocarcinoma metastático pulmonar com apresentação clínica e radiológica atípica. O achado de hipertensão pulmonar indicou a possibilidade de tromboembolia pulmonar; todavia, o diagnóstico definitivo e causa da embolia pulmonar foram dados na autópsia. Discutem-se as formas de apresentação das metástases do coriocarcinoma, sua repercussão e o período de latência que pode existir até evidenciar a neoplasia.<br>A case is presented of a 36 year-old woman, with metastatic lung choriocarcinoma with atypical clinical and radiological presentation. The finding of pulmonary hypertension indicated the possibility of pulmonary thromboembolism, still, the definitive diagnosis and cause of pulmonary embolism were done in the autopsy. The authors discuss the manners of choriocarcinoma metastasis presentation, its repercussions and the latent period which may exist until it presents evidence of neoplasm

Associations of autozygosity with a broad range of human phenotypes

Abstract: In many species, the offspring of related parents suffer reduced reproductive success, a phenomenon known as inbreeding depression. In humans, the importance of this effect has remained unclear, partly because reproduction between close relatives is both rare and frequently associated with confounding social factors. Here, using genomic inbreeding coefficients (FROH) for >1.4 million individuals, we show that FROH is significantly associated (p < 0.0005) with apparently deleterious changes in 32 out of 100 traits analysed. These changes are associated with runs of homozygosity (ROH), but not with common variant homozygosity, suggesting that genetic variants associated with inbreeding depression are predominantly rare. The effect on fertility is striking: FROH equivalent to the offspring of first cousins is associated with a 55% decrease [95% CI 44–66%] in the odds of having children. Finally, the effects of FROH are confirmed within full-sibling pairs, where the variation in FROH is independent of all environmental confounding