A personalized multi-platform assessment of somatic mosaicism in the human frontal cortex.

Somatic mutations in individual cells lead to genomic mosaicism, contributing to the intricate regulatory landscape of genetic disorders and cancers. To evaluate and refine the detection of somatic mosaicism across different technologies with personalized donor-specific assembly (DSA), we obtained tissue from the dorsolateral prefrontal cortex (DLPFC) of a post-mortem neurotypical 31-year-old individual. We sequenced bulk DLPFC tissue using Oxford Nanopore Technologies (∼60X), NovaSeq (∼30X), and linked-read sequencing (∼28X).

Positive and negative framing of complication risk and long-term outcomes influences decision-making in hip and knee arthroplasty.

Background: The framing effect has been demonstrated in a variety of settings. This study aimed to determine whether framing of complication risk in total hip arthroplasty (THA) and long-term patient satisfaction rates in total knee arthroplasty (TKA) influences patient decision-making and 'worry' using hypothetical vignettes.

Methods: Two cross-sectional survey studies were undertaken, one based on a THA vignette and one based on a TKA vignette.

Enhanced detection and genotyping of disease-associated tandem repeats using HMMSTR and targeted long-read sequencing.

Tandem repeat sequences comprise approximately 8% of the human genome and are linked to more than 50 neurodegenerative disorders. Accurate characterization of disease-associated repeat loci remains resource intensive and often lacks high resolution genotype calls. We introduce a multiplexed, targeted nanopore sequencing panel and HMMSTR, a sequence-based tandem repeat copy number caller which outperforms current signal- and sequence-based callers relative to two assemblies and we show it performs with high accuracy in heterozygous regions and at low read coverage.

The State of STEMI Care Across NSW: A Comparison of Rural, Regional, and Metropolitan Centres.

Background: At a global level, regional variation in the management of ST-elevation myocardial infarction (STEMI) is influenced by patient demographics and geography. Rural patients with STEMI are disadvantaged in reaching timely care owing to distance and limited ambulance and healthcare resources. Optimising models of STEMI care is key to overcoming the excess rural vs metropolitan cardiovascular morbidity and mortality.

A giant planet transiting a 3-Myr protostar with a misaligned disk.

Astronomers have found more than a dozen planets transiting stars that are 10-40 million years old, but younger transiting planets have remained elusive. The lack of such discoveries may be because planets have not fully formed at this age or because our view is blocked by the protoplanetary disk. However, we now know that many outer disks are warped or broken; provided the inner disk is depleted, transiting planets may thus be visible.

Nurse and doctor turnover and patient outcomes in NHS acute trusts in England: retrospective longitudinal study.

Objective: To investigate the association between monthly turnover rates of hospital nurses and senior doctors and patient health outcomes (mortality and unplanned hospital readmissions).

Design: Retrospective longitudinal study.

Setting: All 148 NHS acute trusts in England (1 April 2010 to 30 March 2019), excluding specialist and community NHS hospital trusts.

Iatrogenic Aortocoronary Dissection During Coronary Intervention: A Case Series.

Iatrogenic aortocoronary dissection (IAD) during percutaneous coronary intervention (PCI) is an uncommon and potentially life-threatening complication. Extension of dissection to the ascending aorta, despite early surgical management, carries a high morbidity and mortality risk. Depending on the severity of dissection, the approach to management ranges from monitoring to surgical intervention; more extensive dissections into the ascending aorta, typically more than 40 mm above the coronary ostium, are considered an indication for surgery.

The Context of the Emergency Department as a Location for a Smoking Cessation Intervention-Process Evaluation Findings From the Cessation of Smoking Trial in the Emergency Department Trial.

Introduction: Hospital emergency departments (ED) offer an opportunity to engage with large numbers of people who smoke to prompt cessation, although the acceptability of opportunistic intervention in this context has been questioned. This process evaluation study was embedded into the Cessation of Smoking Trial in the Emergency Department (COSTED) randomized controlled trial and sought to explore the context of intervention delivery within the ED.

Aims And Methods: Qualitative interviews were conducted with participants and staff across six EDs participating in the COSTED randomized controlled trial.

A comparison of orthopaedic surgery training across five English-speaking countries.

Introduction: There is undocumented and unjustified variability in orthopaedic surgery training between countries. This study compares and contrasts the main features of orthopaedic training in Australia, New Zealand, the United Kingdom, United States, and Canada.

Methods: Comparisons included: competition for, and selection into, training; training pathway structures; training requirements, and; training length.

Cost-utility analysis of provision of e-cigarette starter kits for smoking cessation in emergency departments: An economic evaluation of a randomized controlled trial.

Aims: To assess the cost-effectiveness of the Cessation of Smoking Trial in Emergency Department (COSTED) intervention compared with signposting to local stop smoking service (SSS) from the National Health Service (NHS) and personal social services (PSS) perspective.

Design, Setting And Participants: This was a two-group, multi-centre, pragmatic, individually randomized controlled trial set in six Emergency Departments (EDs) in urban and rural areas in the United Kingdom. Adult (≥ 18 years) daily smokers (at least one cigarette or equivalent per day) but not daily e-cigarette users, with carbon monoxide reading ≥ 8 parts per million, attending the ED (n = 972) were included.

Rural-Urban Differences in Outcomes of Acute Cardiac Admissions in a Large Health Service.

Background: Cardiovascular disease (CVD) is a leading cause of morbidity and mortality and residing in a rural and remote region is associated with an increased risk. The impact of rurality on CVD outcomes needs to be fully elucidated.

Objectives: The purpose of this study was to assess the difference in mortality, readmission within 30 days, total readmissions, survival, and total emergency department (ED) presentations following an index CVD admission among patients from rural or remote areas as compared to metropolitan areas.

Predictive models of post-traumatic stress disorder, complex post-traumatic stress disorder, depression, and anxiety in children and adolescents following a single-event trauma.

Background: This study examined the power of theory-derived models to account for the development of PTSD, Complex PTSD (CPTSD), depression, and anxiety in children and adolescents who had experienced a single-event trauma.

Methods: Children ( = 234, aged 8-17 years) recruited from local Emergency Departments were assessed at two and nine weeks post-trauma. Data obtained from self-report questionnaires completed by the child, telephone interviews with parents, and hospital data were used to develop four predictive models of risk factors for PTSD, CPTSD, depression, and Generalized Anxiety Disorder (GAD).

Increasing venture capital investment in spinal surgery: an analysis of investments from 2000 to 2023.

Background Context: Venture capital (VC) plays a vital role in advancing spinal surgery technologies, driven by the growing burden of spinal disorders and high healthcare costs. Despite increasing interest, trends in VC funding for spinal surgery remain understudied.

Purpose: This study aimed to examine temporal and thematic trends in VC investments in spinal surgery companies from 2000 to 2023.

A Photo-Switchable Peptide Fibril Esterase.

Recent attempts to mimic enzyme catalysis using simple, short peptides have been successful in enhancing various reactions, but the on-demand, temporal or spatial regulation of such processes by external triggers remains a great challenge. Light irradiation is an ideal trigger for regulating molecular functionality, since it can be precisely manipulated in time and space, and because most reaction mediums do not react to light. We herein report the selection of a photo-switchable amphiphilic peptide catalyst from a small library of isomeric peptides, each containing an azobenzene-based light responsive group and a catalytic histidine residue.

Why might animals remember? A functional framework for episodic memory research in comparative psychology.

One of Clayton's major contributions to our understanding of animal minds has been her work on episodic-like memory. A central reason for the success of this work was its focus on ecological validity: rather than looking for episodic memory for arbitrary stimuli in artificial contexts, focussing on contexts in which episodic memory would serve a biological function such as food caching. This review aims to deepen this insight by surveying the numerous functions that have been proposed for episodic memory, articulating a philosophically grounded framework for understanding what exactly functions are, and drawing on these to make suggestions for future directions in the comparative cognitive psychology of episodic memory.

Elements of episodic memory: insights from artificial agents.

Many recent artificial intelligence (AI) systems take inspiration from biological episodic memory. Here, we ask how these 'episodic-inspired' AI systems might inform our understanding of biological episodic memory. We discuss work showing that these systems implement some key features of episodic memory while differing in important respects and appear to enjoy behavioural advantages in the domains of strategic decision-making, fast learning, navigation, exploration and acting over temporal distance.

Histones and histone variant families in prokaryotes.

Histones are important chromatin-organizing proteins in eukaryotes and archaea. They form superhelical structures around which DNA is wrapped. Recent studies have shown that some archaea and bacteria contain alternative histones that exhibit different DNA binding properties, in addition to highly divergent sequences.

AAGGG repeat expansions trigger -independent synaptic dysregulation in human CANVAS neurons.

Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) is a recessively inherited neurodegenerative disorder caused by intronic biallelic, nonreference CCCTT/AAGGG repeat expansions within . To investigate how these repeats cause disease, we generated patient induced pluripotent stem cell-derived neurons (iNeurons). CCCTT/AAGGG repeat expansions do not alter neuronal splicing, expression, or DNA repair pathway function.

Manual Chest PRESSURE During Direct Current Cardioversion for Atrial Fibrillation: A Randomized Control Trial (PRESSURE-AF).

Background: Direct current cardioversion is frequently used to return patients with atrial fibrillation (AF) to sinus rhythm. Chest pressure during cardioversion may improve the efficacy of cardioversion through decreasing transthoracic impedance and increasing cardiac energy delivery.

Objectives: This study aimed to assess the efficacy and safety of upfront chest pressure during direct current cardioversion for AF with anterior-posterior pad positioning.

Fasting vs. no fasting prior to catheterization laboratory procedures: the SCOFF trial.

Background And Aims: Current guidelines recommend 6 h of solid food and 2 h of clear liquid fasting for patients undergoing cardiac procedures with conscious sedation. There are no data to support this practice, and previous single-centre studies support the safety of removing fasting requirements. The objective of this study was to determine the non-inferiority of a no-fasting strategy to fasting prior to cardiac catheterization procedures which require conscious sedation.

Enhancing Guidewire Efficacy for Transradial Access: The EAGER Randomized Controlled Trial.

Background: The 1.5 mm Baby J hydrophilic narrow J-tipped wire is a development of the standard 0.035" 3-mm J-tipped peripheral guidewire, designed to improve efficiency of transradial coronary procedures by safely navigating small caliber radial arteries to the aorta.