Notes

Selectivity inside acquired prosopagnosia: The segregation involving divergent and convergent functions.
Intratumor heterogeneity (ITH) is associated with tumor development, prognosis, immune evasion and therapeutic effects. We proposed the Defining ITH based on EntRopy (DITHER) algorithm for evaluating ITH. We first evaluated the entropies of somatic mutation profiles and copy number alteration (CNA) profiles in a tumor, respectively, and defined their average as the ITH level for the tumor. Using DITHER, we analyzed 33 cancer types from The Cancer Genome Atlas (TCGA) program. We demonstrated that the ITH defined by DITHER had the typical properties of ITH, namely its strong correlations with tumor progression, unfavorable phenotype, genomic instability and immune evasion. Compared with two other ITH evaluation methods MATH and PhyloWGS, the DITHER ITH had more prominent characteristics of ITH. Moreover, different from MATH and PhyloWGS, DITHER scores were positively correlated with tumor purity, suggesting that DITHER tends to capture the ITH between tumor cells. Interestingly, microsatellite instability (MSI)-high tumors had significantly lower DITHER scores than microsatellite stability (MSS)/MSI-low tumors, although the former had significantly higher tumor mutation loads than the latter. It suggests that the hypermutability of MSI is homogeneous between different cellular populations in bulk tumors. The DITHER ITH may provide novel insights into tumor biology and potential clinical applications.
Breast parenchyma interacts dynamically with an inserted implant, which may lead to local atrophy and sensory involvement, changes in vascular tissue and lactation, besides volume reduction over time. The inversely proportional relationship between pressure and volume cannot be stated with certainty, that is, the larger implants having more local pressure would lead to compression, thus leading to atrophy of parenchyma more intensely when compared with smaller implants. The objective of this study was to assess and list breast parenchyma volume changes with different pressure levels due to silicone implants of several sizes.

To list the pressure exerted by silicone implants and the atrophy caused in the breast tissue.

Thirty-six women were placed in 3 groups (n=12) and subjected to augmentation mammoplasty in the subglandular plane. The measurement of pressure in millimeters of mercury was done with help of molds with the same base and projection of implants introduced posteriorly. The magnetic resonance imaging was done in all participants in the pre-operative period and at 6 and 12 months after surgery.

Twelve months after breast implant insertion, the groups had a significant glandular volume reduction (mean 12.97% in the right breast and 12.42% in the left breast). There is a statistically significant difference in the proportions of volume reduction and the pressure levels measured.

A reduction in breast volume was verified. This reduction is also related to the level of pressure exerted on the implant.
A reduction in breast volume was verified. This reduction is also related to the level of pressure exerted on the implant.
Many aspects of the global response to the COVID-19 pandemic are enabled by the fast and open publication of SARS-CoV-2 genetic sequence data. The European Nucleotide Archive (ENA) is the European recommended open repository for genetic sequences. In this work, we present a tool for submitting raw sequencing reads of SARS-CoV-2 to ENA. The tool features a single-step submission process, a graphical user interface, tabular-formatted metadata and the possibility to remove human reads prior to submission. A Galaxy wrap of the tool allows users with little or no bioinformatic knowledge to do bulk sequencing read submissions. The tool is also packed in a Docker container to ease deployment.

CLI ENA upload tool is available at github.com/usegalaxy-eu/ena-upload-cli (DOI 10.5281/zenodo.4537621); Galaxy ENA upload tool at toolshed.g2.bx.psu.edu/view/iuc/ena_upload/382518f24d6d and https//github.com/galaxyproject/tools-iuc/tree/master/tools/ena_upload (development) and; ENA upload Galaxy container at github.com/ELIXIR-Belgium/ena-upload-container (DOI 10.5281/zenodo.4730785).
CLI ENA upload tool is available at github.com/usegalaxy-eu/ena-upload-cli (DOI 10.5281/zenodo.4537621); Galaxy ENA upload tool at toolshed.g2.bx.psu.edu/view/iuc/ena_upload/382518f24d6d and https//github.com/galaxyproject/tools-iuc/tree/master/tools/ena_upload (development) and; ENA upload Galaxy container at github.com/ELIXIR-Belgium/ena-upload-container (DOI 10.5281/zenodo.4730785).
The association patterns of Attention Deficit Hyperactivity Disorder (ADHD) and Autism Spectrum Disorder (ASD) with educational attainment (EA) are complex; children with ADHD and ASD are at risk of poor academic outcomes, and parental EA has been associated with risk of ADHD/ASD in the offspring. Little is known on the causal links between ADHD, ASD, EA and the potential contribution of cognitive ability.

Using the latest genome-wide association studies (GWAS) summary data on ADHD, ASD and EA, we applied two-sample Mendelian randomization (MR) to assess the effects of genetic liability to ADHD and ASD on EA. Reverse direction analyses were additionally performed. Multivariable MR was performed to estimate any effects independent of cognitive ability.

Genetic liability to ADHD had a negative effect on EA, independently of cognitive ability (MVMRIVW -1.7 months of education per doubling of genetic liability to ADHD; 95% CI -2.8 to -0.7), whereas genetic liability to ASD a positive effect (MVMRIVW 30 days per doubling of the genetic liability to ASD; 95% CI 2 to 53). Reverse direction analyses suggested that genetic liability to higher EA had an effect on lower risk of ADHD, independently of cognitive ability (MVMRIVWOR 0.33 per SD increase; 95% CI 0.26 to 0.43) and increased risk of ASD (MRIVWOR 1.51 per SD increase; 95% CI 1.29 to 1.77), which was partly explained by cognitive ability (MVMRIVWOR per SD increase 1.24; 95%CI 0.96 to 1.60).

Genetic liability to ADHD and ASD is likely to affect educational attainment, independently of underlying cognitive ability.
Genetic liability to ADHD and ASD is likely to affect educational attainment, independently of underlying cognitive ability.
The National Pediatric Readiness Project is a US initiative to improve emergency department (ED) readiness to care for acutely ill and injured children. However, it is unclear whether high ED pediatric readiness is associated with improved survival in US trauma centers.

To evaluate the association between ED pediatric readiness, in-hospital mortality, and in-hospital complications among injured children presenting to US trauma centers.

A retrospective cohort study of 832 EDs in US trauma centers in 50 states and the District of Columbia was conducted using data from January 1, 2012, through December 31, 2017. Injured children younger than 18 years who were admitted, transferred, or with injury-related death in a participating trauma center were included in the analysis. Subgroups included children with an Injury Severity Score (ISS) of 16 or above, indicating overall seriously injured (accounting for all injuries); any Abbreviated Injury Scale (AIS) score of 3 or above, indicating at least 1 serious injeadiness EDs, but not fewer complications. These findings support national efforts to increase ED pediatric readiness in US trauma centers that care for children.
In this cohort study, injured children treated in high-readiness EDs had lower mortality compared with similar children in low-readiness EDs, but not fewer complications. These findings support national efforts to increase ED pediatric readiness in US trauma centers that care for children.
Low school preparedness is linked to high school dropout, poor employment, and negative outcomes. Childcare attendance may increase school readiness and foster academic achievement.

To explore whether childcare attendance was associated with academic achievement at the end of compulsory schooling (age 16 years in the UK), whether maternal education level was a moderator, and the benefit-cost ratio of childcare regarding productivity returns of academic achievement.

In this cohort study, data were included from the Avon Longitudinal Study of Parents and Children (ALSPAC) born from April 1991 to December 1992 and the UK National Pupil Database for examination results. Data on academic achievement at age 16 years were available for 11 843 participants. Data were collected from June 2006 to June 2008, and data were analyzed from September 2019 to May 2020.

On average, 3.7%, 5.9%, and 90.4% attended childcare full time, part time, and less than 10 hours per week, respectively. Maternal education was assessh low education attended childcare, their probability of no GCSE qualification went from 28.9% (95% CI, 26.8-31.0) to 20.3% (95% CI, 18.0-22.8), whereas children of mothers with higher education had a probability of no qualification of less than 10% regardless of childcare attendance. The benefit-cost ratio for each £1 (US $1.40) invested in full-time childcare attendance for children of mothers with low education was £1.71 (95% CI, 1.03-2.45; US $2.39; 95% CI, 1.44-3.43) for those who reached a Level 2 GCSE qualification.

Promoting universal childcare with facilitated access for children of lower socioeconomic backgrounds deserves to be considered as a way to reduce the intergenerational transmission of low academic achievement.
Promoting universal childcare with facilitated access for children of lower socioeconomic backgrounds deserves to be considered as a way to reduce the intergenerational transmission of low academic achievement.
To investigate the use of an amyloid-targeting fluorescent probe, ARCAM-1, to identify amyloid-containing deposits in the retina of a transgenic mouse model of Alzheimer's disease (AD) and in human postmortem AD patients.

Aged APP/PS1 transgenic AD and wild-type (WT) mice were given an intraperitoneal (IP) injection of ARCAM-1 and their retinas imaged in vivo using a fluorescence ophthalmoscope. Eyes were enucleated and dissected for ex vivo inspection of retinal amyloid deposits. Additionally, formalin-fixed eyes from human AD and control patients were dissected, and the retinas were stained using ARCAM-1 or with an anti-amyloid-β antibody. Wortmannin nmr Confocal microscopy was used to image amyloid-containing deposits stained with ARCAM-1 or with immunostaining.

Four out of eight APP/PS1 mice showed the presence of amyloid aggregates in the retina during antemortem imaging. Retinas from three human AD patients stained with ARCAM-1 showed an apparent increased density of fluorescently labeled amyloid-containing deposits compared to the retinas from two healthy, cognitively normal (CN) patients. Immunolabeling confirmed the presence of amyloid deposits in both the retinal neuronal layers and in retinal vasculature.

ARCAM-1 facilitates antemortem detection of amyloid aggregates in the retina of a mouse model for AD, and postmortem detection of amyloid-containing deposits in human retinal tissues from AD patients. These results support the hypothesis of AD pathology manifesting in the eye and highlight a novel area for fluorophore development for the optical detection of retinal amyloid in AD patients.

This paper represents an initial examination for potential translation of an amyloid-targeting fluorescent probe to a retinal imaging agent for aiding in the diagnosis of Alzheimer's disease.
This paper represents an initial examination for potential translation of an amyloid-targeting fluorescent probe to a retinal imaging agent for aiding in the diagnosis of Alzheimer's disease.
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