Sibling similarity can reveal key insights into genetic architecture.

The use of siblings to infer the factors influencing complex traits has been a cornerstone of quantitative genetics. Here, we utilise siblings for a novel application: the inference of genetic architecture, specifically that relating to individuals with extreme trait values (e.g.

Assessing chest radiographic quality and the influence of COVID-19 pathology: the Australian experience.

Introduction: Quality assurance (QA) in medical imaging ensures consistently high-quality images at acceptable radiation doses. However, the applicability of the chest X-ray (CXR) QA tool in images with pathology, particularly infectious diseases like COVID-19, has not been explored. This study examines the utility of the European Guidelines for image quality in QA of CXRs with varying severity and types of infectious disease.

Neuropsychiatric polygenic scores are weak predictors of professional categories.

Polygenic scores (PGS) enable the exploration of pleiotropic effects and genomic dissection of complex traits. Here, in 421,889 individuals with European ancestry from the Million Veteran Program and UK Biobank, we examine how PGS of 17 neuropsychiatric traits are related to membership in 22 broad professional categories. Overall, we find statistically significant but weak (the highest odds ratio is 1.

Clinical and Genomic Prediction of Coronary Artery Disease Subtypes.

Background: Coronary artery disease (CAD) is a complex, heterogeneous disease with distinct etiological mechanisms. These different etiologies may give rise to multiple subtypes of CAD that could benefit from alternative preventions and treatments. However, so far, there have been no systematic efforts to predict CAD subtypes using clinical and genetic factors.

Striking Departures from Polygenic Architecture in the Tails of Complex Traits.

Understanding the genetic architecture of human traits is of key biological, medical and evolutionary importance. Despite much progress, little is known about how genetic architecture varies across the trait continuum and, in particular, if it differs in the tails of complex traits, where disease often occurs. Here, applying a novel approach based on polygenic scores, we reveal striking departures from polygenic architecture across 148 quantitative trait tails, consistent with distinct concentrations of high-impact rare alleles in one or both tails of most of the traits.

Phosphate-Driven Interfacial Self-Assembly of Silk Fibroin for Continuous Noncovalent Growth of Nanothin Defect-Free Coatings.

Silk fibroin is a fiber-forming protein derived from the thread of silkworm cocoons. This biocompatible protein, under the kosmotropic influence of potassium phosphate, can undergo supramolecular self-assembly driven by a random coil to β-sheet secondary structure transition. By leveraging concurrent nonspecific adsorption and self-assembly of silk fibroin, we demonstrate an interfacial phenomenon that yields adherent, defect-free nanothin protein coatings that grow continuously in time, without observable saturation in mass deposition.

Nurses' experiences on the use of Positive Behaviour Support in the management of challenging behaviour in adults with a dual diagnosis of a mental health disorder and an intellectual disability.

Introduction: Individuals who have a dual diagnosis of both a psychiatric disorder and an intellectual disability (ID) are more likely to exhibit challenging behaviour than the general population. Clinicians globally have been encouraged to use positive approaches such as Positive Behaviour Support (PBS) when managing challenging behaviour.

Aim: To explore nurses' views, opinions and perceptions on the use of positive behaviour support, as an adjunctive therapy, in the management of challenging behaviour in adults with a dual diagnosis of a mental health disorder and an intellectual disability within a mental health setting.

Extended reality used in the treatment of phantom limb pain: a multicenter, double-blind, randomized controlled trial.

Phantom limb pain (PLP) represents a significant challenge after amputation. This study investigated the use of phantom motor execution (PME) and phantom motor imagery (PMI) facilitated by extended reality (XR) for the treatment of PLP. Both treatments used XR, but PME involved overt execution of phantom movements, relying on the decoding of motor intent using machine learning to enable real-time control in XR.

Use of reporting templates for chest radiographs in a coronavirus disease 2019 context: measuring concordance of radiologists with three international templates.

Purpose: Reporting templates for chest radiographs (CXRs) for patients presenting or being clinically managed for severe acute respiratory syndrome coronavirus 2 [coronavirus disease 2019 (COVID-19)] has attracted advocacy from international radiology societies. We aim to explore the effectiveness and useability of three international templates through the concordance of, and between, radiologists reporting on the presence and severity of COVID-19 on CXRs.

Approach: Seventy CXRs were obtained from a referral hospital, 50 from patients with COVID-19 (30 rated "classic" COVID-19 appearance and 20 "indeterminate") and 10 "normal" and 10 "alternative pathology" CXRs.

The Gene Expression Landscape of Disease Genes.

Fine-mapping and gene-prioritisation techniques applied to the latest Genome-Wide Association Study (GWAS) results have prioritised hundreds of genes as causally associated with disease. Here we leverage these recently compiled lists of high-confidence causal genes to interrogate where in the body disease genes operate. Specifically, we combine GWAS summary statistics, gene prioritisation results and gene expression RNA-seq data from 46 tissues and 204 cell types in relation to 16 major diseases (including 8 cancers).

KRASFormer: a fully vision transformer-based framework for predictinggene mutations in histopathological images of colorectal cancer.

Detecting the Kirsten Rat Sarcoma Virus () gene mutation is significant for colorectal cancer (CRC) patients. Thegene encodes a protein involved in the epidermal growth factor receptor (EGFR) signaling pathway, and mutations in this gene can negatively impact the use of monoclonal antibodies in anti-EGFR therapy and affect treatment decisions. Currently, commonly used methods like next-generation sequencing (NGS) identifymutations but are expensive, time-consuming, and may not be suitable for every cancer patient sample.

Polygenic risk of social isolation behavior and its influence on psychopathology and personality.

Social isolation has been linked to a range of psychiatric issues, but the behavioral component that drives it is not well understood. Here, a genome-wide associations study (GWAS) was carried out to identify genetic variants that contribute specifically to social isolation behavior (SIB) in up to 449,609 participants from the UK Biobank. 17 loci were identified at genome-wide significance, contributing to a 4% SNP-based heritability estimate.

Integrating human endogenous retroviruses into transcriptome-wide association studies highlights novel risk factors for major psychiatric conditions.

Human endogenous retroviruses (HERVs) are repetitive elements previously implicated in major psychiatric conditions, but their role in aetiology remains unclear. Here, we perform specialised transcriptome-wide association studies that consider HERV expression quantified to precise genomic locations, using RNA sequencing and genetic data from 792 post-mortem brain samples. In Europeans, we identify 1238 HERVs with expression regulated in cis, of which 26 represent expression signals associated with psychiatric disorders, with ten being conditionally independent from neighbouring expression signals.

Nanopatterned Monolayers of Bioinspired, Sequence-Defined Polypeptoid Brushes for Semiconductor/Bio Interfaces.

The ability to control and manipulate semiconductor/bio interfaces is essential to enable biological nanofabrication pathways and bioelectronic devices. Traditional surface functionalization methods, such as self-assembled monolayers (SAMs), provide limited customization for these interfaces. Polymer brushes offer a wider range of chemistries, but choices that maintain compatibility with both lithographic patterning and biological systems are scarce.

- Improving T-cell response quantification with holistic artificial intelligence based prediction in immunohistochemistry images.

The immune response associated with oncogenesis and potential oncological ther- apeutic interventions has dominated the field of cancer research over the last decade. T-cell lymphocytes in the tumor microenvironment are a crucial aspect of cancer's adaptive immunity, and the quantification of T-cells in specific can- cer types has been suggested as a potential diagnostic aid. However, this is cur- rently not part of routine diagnostics.

BridgePRS leverages shared genetic effects across ancestries to increase polygenic risk score portability.

Here we present BridgePRS, a novel Bayesian polygenic risk score (PRS) method that leverages shared genetic effects across ancestries to increase PRS portability. We evaluate BridgePRS via simulations and real UK Biobank data across 19 traits in individuals of African, South Asian and East Asian ancestry, using both UK Biobank and Biobank Japan genome-wide association study summary statistics; out-of-cohort validation is performed in the Mount Sinai (New York) BioMe biobank. BridgePRS is compared with the leading alternative, PRS-CSx, and two other PRS methods.

Colossal electrocaloric effect in an interface-augmented ferroelectric polymer.

The electrocaloric effect demands the maximized degree of freedom (DOF) of polar domains and the lowest energy barrier to facilitate the transition of polarization. However, optimization of the DOF and energy barrier-including domain size, crystallinity, multiconformation coexistence, polar correlation, and other factors in bulk ferroelectrics-has reached a limit. We used organic crystal dimethylhexynediol (DMHD) as a three-dimensional sacrificial master to assemble polar conformations at the heterogeneous interface in poly(vinylidene fluoride)-based terpolymer.

Translation of tissue-based artificial intelligence into clinical practice: from discovery to adoption.

Digital pathology (DP), or the digitization of pathology images, has transformed oncology research and cancer diagnostics. The application of artificial intelligence (AI) and other forms of machine learning (ML) to these images allows for better interpretation of morphology, improved quantitation of biomarkers, introduction of novel concepts to discovery and diagnostics (such as spatial distribution of cellular elements), and the promise of a new paradigm of cancer biomarkers. The application of AI to tissue analysis can take several conceptual approaches, within the domains of language modelling and image analysis, such as Deep Learning Convolutional Neural Networks, Multiple Instance Learning approaches, or the modelling of risk scores and their application to ML.

The learning experiences of student nurses in the perioperative environment: An integrative literature review.

Objectives: For the Student Nurse placement in the perioperative environment provides an opportunity to observe and engage in preoperative, intraoperative, and immediate postoperative care of the surgical patient. To date no synthesis of empirical studies has been undertaken to ascertain the learning impact of the perioperative experience. The objectives of this review were to identify and synthesise the literature on the learning experiences of student nurses within the perioperative environment.

Heterostructure particles enable omnidispersible in water and oil towards organic dye recycle.

Dispersion of colloidal particles in water or oil is extensively desired for industrial and environmental applications. However, it often strongly depends on indispensable assistance of chemical surfactants or introduction of nanoprotrusions onto the particle surface. Here we demonstrate the omnidispersity of hydrophilic-hydrophobic heterostructure particles (HL-HBPs), synthesized by a surface heterogeneous nanostructuring strategy.