Image perception and interpretation of abnormalities; can we believe our eyes? Can we do something about it?

The radiologist’s visual impression of images is transmitted, via non-visual means (the report), to the clinician. There are several complex steps from the perception of the images by the radiologist to the understanding of the impression by the clinician. With a process as complex as this, it is no wonder that errors in perception, cognition, interpretation, transmission and understanding are very common. This paper reviews the processes of perception and error generation and possible strategies for minimising them

A cross sectional evaluation of an alcohol intervention targeting young university students

BACKGROUND: Hazardous drinking has been found to be higher among young university students compared to their non-university peers. Although young university students are exposed to new and exciting experiences, including greater availability and emphasis on social functions involving alcohol there are few multi strategy comprehensive interventions aimed at reducing alcohol-related harms. METHODS: Random cross sectional online surveys were administered to 18-24 year old students studying at the main campus of a large metropolitan university in Perth, Western Australia. Prior to the completion of the second survey an alcohol intervention was implemented on campus. Completed surveys were received from 2465 (Baseline; T1) and 2422 (Post Year 1: T2) students. Students who consumed alcohol in the past 12 months were categorised as low risk or hazardous drinkers using the Alcohol Use Disorders Identification Test (AUDIT). Due to the cross sectional nature of the two samples two-tailed two-proportion z-test and two sample t-tests were employed to determine statistical significance between the two time periods for categorical and continuous variables respectively. RESULTS: At T1 and T2 89.1 % and 87.2 % of the total sample reported drinking alcohol in the past month respectively. Hazardous levels of alcohol consumption reduced slightly between T1 (39.7 %) and T2 (38 %). In both time periods hazardous drinkers reported significantly higher mean scores for experienced harm, second-hand harm and witnessed harm scores compared to low risk drinkers (p <0.001). Hazardous drinkers were significantly more likely to experience academic problems due to their alcohol consumption and to report more positive alcohol expectations than low risk drinkers at both time periods (p <0.001). CONCLUSIONS: Harms and problems for students who report hazardous drinking are of concern and efforts should be made to ensure integrated and targeted strategies reach higher risk students and focus on specific issues such as driving while intoxicated and alcohol related unplanned sexual activity. However there is also a need for universal strategies targeting all students and low risk drinkers as they too are exposed to alcohol harms within the drinking and social environment. Changing the culture of the university environment is a long term aim and to effect change a sustained combination of organisational actions, partnerships and educational actions is required

Narcissistic Features in Young Adolescents: Relations to Aggression and Internalizing Symptoms

Recent research and theory suggest narcissistic features contribute to aggression in adults. The present study examined the association of narcissistic features with aggression and internalizing symptoms in 233 students of 5th–8th grade at three inner-city schools. A factor analysis of the Narcissistic Personality Inventory in this sample revealed three factors: Adaptive Narcissism, Exploitativeness, and Exhibitionism. Regression analyses were used to predict the association of these three narcissistic features with self-, teacher-, and peer-reported aggression and self-reported internalizing symptoms. Results indicate narcissistic exploitativeness positively predicted self-reported proactive aggression, and narcissistic exhibitionism positively predicted internalizing symptoms. Narcissism and self-esteem interacted to predict teacher-reported aggression and self-reported internalizing symptoms. Results are discussed in the context of existing theories of narcissism, threatened egotism, and self-perception bias.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/45298/1/10964_2004_Article_485227.pd

Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, <scp>genotype–phenotype</scp> correlations and common mechanisms

Cornelia de Lange Syndrome (CdLS) is a rare, dominantly inherited multisystem developmental disorder characterized by highly variable manifestations of growth and developmental delays, upper limb involvement, hypertrichosis, cardiac, gastrointestinal, craniofacial, and other systemic features. Pathogenic variants in genes encoding cohesin complex structural subunits and regulatory proteins (NIPBL, SMC1A, SMC3, HDAC8, and RAD21) are the major pathogenic contributors to CdLS. Heterozygous or hemizygous variants in the genes encoding these five proteins have been found to be contributory to CdLS, with variants in NIPBL accounting for the majority (&gt;60%) of cases, and the only gene identified to date that results in the severe or classic form of CdLS when mutated. Pathogenic variants in cohesin genes other than NIPBL tend to result in a less severe phenotype. Causative variants in additional genes, such as ANKRD11, EP300, AFF4, TAF1, and BRD4, can cause a CdLS‐like phenotype. The common role that these genes, and others, play as critical regulators of developmental transcriptional control has led to the conditions they cause being referred to as disorders of transcriptional regulation (or “DTRs”). Here, we report the results of a comprehensive molecular analysis in a cohort of 716 probands with typical and atypical CdLS in order to delineate the genetic contribution of causative variants in cohesin complex genes as well as novel candidate genes, genotype–phenotype correlations, and the utility of genome sequencing in understanding the mutational landscape in this population

Acquisition and Evolution of Plant Pathogenesis–Associated Gene Clusters and Candidate Determinants of Tissue-Specificity in Xanthomonas

is a large genus of plant-associated and plant-pathogenic bacteria. Collectively, members cause diseases on over 392 plant species. Individually, they exhibit marked host- and tissue-specificity. The determinants of this specificity are unknown. lineage. genome and indicate that differentiation with respect to host- and tissue-specificity involved not major modifications or wholesale exchange of clusters, but subtle changes in a small number of genes or in non-coding sequences, and/or differences outside the clusters, potentially among regulatory targets or secretory substrates

Discovery of common and rare genetic risk variants for colorectal cancer.

To further dissect the genetic architecture of colorectal cancer (CRC), we performed whole-genome sequencing of 1,439 cases and 720 controls, imputed discovered sequence variants and Haplotype Reference Consortium panel variants into genome-wide association study data, and tested for association in 34,869 cases and 29,051 controls. Findings were followed up in an additional 23,262 cases and 38,296 controls. We discovered a strongly protective 0.3% frequency variant signal at CHD1. In a combined meta-analysis of 125,478 individuals, we identified 40 new independent signals at P < 5 × 10-8, bringing the number of known independent signals for CRC to ~100. New signals implicate lower-frequency variants, Krüppel-like factors, Hedgehog signaling, Hippo-YAP signaling, long noncoding RNAs and somatic drivers, and support a role for immune function. Heritability analyses suggest that CRC risk is highly polygenic, and larger, more comprehensive studies enabling rare variant analysis will improve understanding of biology underlying this risk and influence personalized screening strategies and drug development.Goncalo R Abecasis has received compensation from 23andMe and Helix. He is currently an employee of Regeneron Pharmaceuticals. Heather Hampel performs collaborative research with Ambry Genetics, InVitae Genetics, and Myriad Genetic Laboratories, Inc., is on the scientific advisory board for InVitae Genetics and Genome Medical, and has stock in Genome Medical. Rachel Pearlman has participated in collaborative funded research with Myriad Genetics Laboratories and Invitae Genetics but has no financial competitive interest

A Genome-Wide Association Study of Diabetic Kidney Disease in Subjects With Type 2 Diabetes

dentification of sequence variants robustly associated with predisposition to diabetic kidney disease (DKD) has the potential to provide insights into the pathophysiological mechanisms responsible. We conducted a genome-wide association study (GWAS) of DKD in type 2 diabetes (T2D) using eight complementary dichotomous and quantitative DKD phenotypes: the principal dichotomous analysis involved 5,717 T2D subjects, 3,345 with DKD. Promising association signals were evaluated in up to 26,827 subjects with T2D (12,710 with DKD). A combined T1D+T2D GWAS was performed using complementary data available for subjects with T1D, which, with replication samples, involved up to 40,340 subjects with diabetes (18,582 with DKD). Analysis of specific DKD phenotypes identified a novel signal near GABRR1 (rs9942471, P = 4.5 x 10(-8)) associated with microalbuminuria in European T2D case subjects. However, no replication of this signal was observed in Asian subjects with T2D or in the equivalent T1D analysis. There was only limited support, in this substantially enlarged analysis, for association at previously reported DKD signals, except for those at UMOD and PRKAG2, both associated with estimated glomerular filtration rate. We conclude that, despite challenges in addressing phenotypic heterogeneity, access to increased sample sizes will continue to provide more robust inference regarding risk variant discovery for DKD.Peer reviewe

Binary systems and their nuclear explosions

Peer ReviewedPreprin