Approximately 50% of patients with tuberous sclerosis complex develop infantile spasms, a sudden onset epilepsy syndrome associated with poor neurological outcomes. An increased burden of tubers confers an elevated risk of infantile spasms, but it remains unknown whether some tuber locations confer higher risk than others. Here, we test whether tuber location and connectivity are associated with infantile spasms.

We segmented tubers from 123 children with (n = 74) and without (n = 49) infantile spasms from a prospective observational cohort. We used voxelwise lesion symptom mapping to test for an association between spasms and tuber location. We then used lesion network mapping to test for an association between spasms and connectivity with tuber locations. Finally, we tested the discriminability of identified associations with logistic regression and cross-validation as well as statistical mediation.

Tuber locations associated with infantile spasms were heterogenous, and no single location was signific726-739.Historical and present-day use of per- and polyfluoroalkyl substances (PFAS) have been linked to environmental and human health impacts that prove challenging to address. Therefore, prioritization of PFAS management based on observed or predicted toxicological properties and environmental fate is critical in the development of effective risk management practices. Hazard rating calculations use a range of literature-derived quantitative data to identify and rank the potential risk posed by a contaminant of concern associated with an activity or land use. The present study describes the use of hazard rating calculation methodologies to evaluate PFAS at federally owned properties across Canada. The hazard rating calculations assess potential site impacts from the use of PFAS, including application of PFAS-containing aqueous film-forming foam (AFFF) at fire-fighting training areas (FFTAs). Eleven PFAS were evaluated based on their prevalence or use in AFFFs and the availability of established chemical data. The hazard rating evaluated 4 properties human health, environmental fate, deleterious quantity, and release and impact modifier. In the present study, hazard ratings calculated for perfluorohexane sulfonate, perfluoroheptanoate, and 82 fluorotelomer sulfonate were greater than for the remaining evaluated PFAS. This hazard rating system is beneficial for selecting and/or developing site management or remediation strategies. The methodology supports a comprehensive, site-scale approach for prioritizing PFAS management, and can be integrated into future regulatory framework and contaminant prioritization. Environ Toxicol Chem 2021;40937-946. © 2021 SETAC.This research explored whether Black male adolescents’ (N = 453; Mage = 13.72, SD = 1.33) perceptions of parental racial socialization (i.e., behavioral racial socialization) and school racial climate (i.e., equitable school racial climate) were associated with prosocial outcomes (i.e., prosocial behaviors and positive relations with others) across three waves of adolescence. This study also explored whether youth’s beliefs about the extent to which Black individuals and other marginalized communities are united by experiences of oppression (i.e., oppressed minority ideology) and empathy mediated these associations. Structural equation modeling indicated that parental behavioral racial socialization at Wave 1 and positive relations with others at Wave 3 were positively linked through youth’s oppressed minority ideology and empathy at Wave 2. Thus, Black male adolescents who relate to other marginalized communities through a shared experience of oppression and feel empathy towards others’ lives possess skills that translate their lessons about race and racism into positive relations with others.Adaptations for efficient performance are expected to shape animal morphology based on selection for microhabitat use and ecological forces. The presence of competitor species is predicted to cause niches to contract and enhance trait divergence. Therefore, increased species richness is expected to lead to greater trait divergence, and to result in reduced overlap and similarity between morphologies of sympatric species. We examined patterns of morphospace occupancy and partitioning in the skink fauna of New Guinea, the world’s largest tropical island. Because skink species richness is largely decoupled from elevation in New Guinea, we could examine the effects of both factors (as proxies for competition and abiotic conditions), on morphospace occupancy and partitioning. We measured 1,860 specimens from 79 species of skinks throughout Papua New Guinea, and examined their morphospace occupancy in a spatial context. We calculated, for each assemblage within equal-area cells, the volume of morphospace occupied by all skinks, the mean volume occupied per species, and the mean distance and overlap between all species pairs. We then examined whether these metrics are related to species richness and elevation. Elevation is a stronger predictor of morphospace occupancy than species richness. As elevation increases, intraspecific variation decreases and morphologies become more similar to each other such that overall morphospace occupancy decreases. Highland skinks are, on average, smaller, thinner and shorter limbed than lowland species. We hypothesise that harsh climates in the New Guinea highland habitats impose strong selection on skinks to occupy specific areas of morphospace that facilitate efficient thermoregulation in suboptimal thermal conditions. We conclude that the effect of competition on trait divergence on a community and assemblage scale is eclipsed by abiotic selection pressures in these harsh environments.

Asparagine-linked glycosylation 13 (ALG13) deficiencies have been repeatedly described in the literature with the clinical phenotype of a developmental and epileptic encephalopathy (DEE). SKL2001 Most cases were females carrying the recurrent ALG13 de novo variant, p.(Asn107Ser), with normal transferrin electrophoresis.

We delineate the phenotypic spectrum of 38 individuals, 37 girls and one boy, 16 of them novel and 22 published, with the most common pathogenic ALG13 variant p.(Asn107Ser) and additionally report the phenotype of three individuals carrying other likely pathogenic ALG13 variants.

The phenotypic spectrum often comprised pharmacoresistant epilepsy with epileptic spasms, mostly with onset within the first 6months of life and with spasm persistence in one-half of the cases. Tonic seizures were the most prevalent additional seizure type. Electroencephalography showed hypsarrhythmia and at a later stage of the disease in one-third of all cases paroxysms of fast activity with electrodecrement. ALG13-related DEE was usually associated with severe to profound developmental delay; ambulation was acquired by one-third of the cases, whereas purposeful hand use was sparse or completely absent.