ARSACS: Clinical Features, Pathophysiology and iPS-Derived Models.

Autosomal-recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an early-onset neurodegenerative disease caused by mutations in the SACS gene. The first two mutations were identified in French Canadian populations 20 years ago. The disease is now known as one of the most frequent recessive ataxias worldwide.

The relationship between callous-unemotional traits and internalizing psychopathology in adolescent psychiatric inpatients: a network analysis.

Background: Numerous studies have investigated the relevance of callous-unemotional traits in relation to externalizing psychopathology among children and adolescents. However, less research has examined the connections between callous-unemotional traits and internalizing psychopathology and findings were inconsistent. Consequently, the present study aimed to elucidate the role of callous-unemotional traits in the context of depression and anxiety while controlling for conduct problems, age, and gender.

Generic and queryable data integration schema for transcriptomics and epigenomics studies.

The expansion of multi-omics datasets raises significant challenges for data integration and querying. To overcome these challenges, we developed a generic RDF-based integration schema that connects various types of differential -omics data, epigenomics, and regulatory information. This schema employs the FALDO ontology to enable querying based on genomic locations.

Radiomics Feature Stability in True and Virtual Non-Contrast Reconstructions from Cardiac Photon-Counting Detector CT Datasets.

: Virtual non-contrast (VNC) series reconstructed from contrast-enhanced cardiac scans acquired with photon counting detector CT (PCD-CT) systems have the potential to replace true non-contrast (TNC) series. However, a quantitative comparison of the image characteristics of TNC and VNC data is necessary to determine to what extent they are interchangeable. This work quantitatively evaluates the image similarity between VNC and TNC reconstructions by measuring the stability of multi-class radiomics features extracted in intra-patient TNC and VNC reconstructions.

BioPAX in 2024: Where we are and where we are heading.

In systems biology, the study of biological pathways plays a central role in understanding the complexity of biological systems. The massification of pathway data made available by numerous online databases in recent years has given rise to an important need for standardization of this data. The BioPAX format (Biological Pathway Exchange) emerged in 2010 as a solution for standardizing and exchanging pathway data across databases.

Purinergic receptor P2X7 regulates interleukin-1α mediated inflammation in chronic kidney disease in a reactive oxygen species-dependent manner.

Onset, progression and cardiovascular outcome of chronic kidney disease (CKD) are influenced by the concomitant sterile inflammation. The pro-inflammatory cytokine family interleukin (IL)-1 is crucial in CKD with the key alarmin IL-1α playing an additional role as an adhesion molecule that facilitates immune cell tissue infiltration and consequently inflammation. Here, we investigate calcium ion and reactive oxygen species (ROS)-dependent regulation of different aspects of IL-1α-mediated inflammation.

Successful establishment and evaluation of a reprocessing concept via steam at 105 °C for FFP masks in hospitals in case of logistic shortages.

Filtering face piece (FFP) masks according to EN 149 are essential components of personal protective equipment against biological agents from an occupational health and hospital hygiene perspective. Therefore, shortages due to increased demand or supply bottlenecks can lead to staff threats due to the risk of infection. To determine whether FFP masks could be made reusable in a hospital setting, a thermal reprocessing concept (steam at 105 °C with a holding phase of 10 min) was evaluated in a bed reprocessing chamber.

Prediction of Hospital Readmission Using the CORE and CORE+ Scores in Persons With COPD.

Background: Identifying persons with COPD at high risk for hospital readmission provides opportunities for efficient and appropriate care to lower readmission risk. This study examined 30-d and 60-d hospital readmission prediction of the COPD-readmission (CORE) score and a newly developed CORE+ score. The relationship between CORE and CORE+ scores and ICU admission, endotracheal intubation, and in-hospital noninvasive ventilation (NIV) use was explored.

Surviving septic patients endotyped with a functional assay demonstrate active immune responses.

Introduction: Sepsis is a complex clinical syndrome characterized by a heterogenous host immune response. Historically, static protein and transcriptomic metrics have been employed to describe the underlying biology. Here, we tested the hypothesis that functional TNF expression as well as an immunologic endotype based on both IFNγ and TNF expression could be used to model clinical outcomes in sepsis patients.

Remote Monitoring and Virtual Appointments for the Assessment and Management of Depression via the Co-HIVE Model of Care: A Qualitative Descriptive Study of Patient Experiences.

This qualitative study sought to explore patient experiences with technologies used in the Community Health in a Virtual Environment (Co-HIVE) pilot trial. Technology is becoming increasingly prevalent in mental healthcare, and user acceptance is critical for successful adoption and therefore clinical impact. The Co-HIVE pilot trialled a model of care whereby community-dwelling patients with symptoms of depression utilised virtual appointments and remote monitoring for the assessment and management of their condition, as an adjunct to routine care.

Long-term effects of alcohol-avoidance training: Do changes in approach bias predict who will remain abstinent?

Background: Patients with alcohol use disorder (AUD) tend to selectively approach alcohol cues in the environment, demonstrating an alcohol-approach bias. Alcohol-approach-bias modification (Alcohol-ApBM) effectively increases abstinence rates in patients with AUD when added to abstinence-focused treatment, but the evidence for its proposed working mechanism (reduction of the alcohol-approach bias) is limited. Moreover, not all patients benefit from Alcohol-ApBM, and previous research did not identify reliable pretreatment predictors of Alcohol-ApBM effectiveness.

Cost-Effectiveness of Addressing Retinopathy of Prematurity in Rwanda.

Purpose: With the expansion of neonatal care in sub-Saharan Africa (SSA), an increasing number of premature babies are at risk to develop retinopathy of prematurity (ROP). Previous studies have quantified the cost-effectiveness of addressing ROP in middle-income countries, but few have focused on SSA. This study estimates the cost of a national program for ROP screening and anti-VEGF injection treatment in Rwanda compared to the status quo.

External Validation of Predictors of Mortality in Polytrauma Patients.

Introduction: The Parkland Trauma Index of Mortality (PTIM) is an integrated, machine learning 72-h mortality prediction model that automatically extracts and analyzes demographic, laboratory, and physiological data in polytrauma patients. We hypothesized that this validated model would perform equally as well at another level 1 trauma center.

Methods: A retrospective cohort study was performed including ∼5000 adult level 1 trauma activation patients from January 2022 to September 2023.

Multi-Modal Venous ThromboembolicProphylaxis Aids in Risk Reduction Following Splenectomy in Female and Male Mice.

Introduction: Splenectomy (SPLN) is associated with elevated risk of venous thromboembolic (VTE) disease. Enoxaparin (ENX) is a low-molecular-weight heparin agent used in VTE chemoprophylaxis. Early aspirin administration ameliorates postSPLN platelet hyperaggregability in male mice.

Examining the Aftermath of Virtual Interviewing on Surgical Residency Matches.

Introduction: Residency interviews have traditionally been conducted in person; however, COVID-19 forced programs to shift to virtual interviewing. This study delineated the nationwide trends observed after virtual interviewing across multiple application cycles on both surgical residency applicant competitiveness and program workload.

Methods: Publicly available National Residency Matching Program applicant and program data were retrospectively reviewed.

METABOLIC AND BIOENERGETIC ALTERATIONS ARE ASSOCIATED WITH INFECTION SUSCEPTIBILITY IN SURVIVORS OF SEVERE TRAUMA: AN EXPLORATORY STUDY.

Background : Trauma and blood loss are frequently associated with organ failure, immune dysfunction, and a high risk of secondary bacterial lung infections. We aim to test if plasma metabolomic flux and monocyte bioenergetics are altered in association with trauma and related secondary infections. Methods : Plasma samples were collected from trauma patients at three time points: days 0, 3, and 7 postadmission.

Aberrant Oxygen Concentrations Induce Systemic Inflammation in a Murine Model.

Introduction: Hypoxia is a significant cause of secondary insult in the critically ill trauma or surgical patient. The cause of increased mortality following a brief period of hypoxia is not well understood. The aim of this study is to determine the effect of acute, isolated deviations in oxygen concentration on proinflammatory cytokine release and markers of endothelial stress in a murine model.

Factors associated with having uncontrolled asthma in rural Appalachia.

Background: Chronic respiratory disease disproportionately affects residents of Appalachia, particularly those residing in Central Appalachia. Asthma is particularly burdensome to Central Appalachian residents regarding cost and disability. Improving our understanding of how to mitigate these burdens requires understanding the factors influencing asthma control among individuals with asthma living in Central Appalachia, specifically rural Kentucky.

TRPC3 signalling contributes to the biogenesis of extracellular vesicles.

Extracellular vesicles (EVs) contribute to a wide range of pathological processes including cancer progression, yet the molecular mechanisms underlying their biogenesis remain incompletely characterized. The development of tetraspanin-based pHluorin reporters has enabled the real-time analysis of EV release at the plasma membrane. Here, we employed CD81-pHluorin to investigate mechanisms of EV release in ovarian cancer (OC) cells and report a novel role for the Ca-permeable transient receptor potential (TRP) channel TRPC3 in EV-mediated communication.

Species specific responses to stressors hamper Trichoptera recovery.

Worldwide, aquatic biodiversity is severely threatened as a result of anthropogenic pressures such as pollution, habitat destruction and climate change. Widescale legislation resulted in reduced nutrient- and pesticide loads, and restoration measures allowed modest recovery of freshwater biodiversity. However, from 2010 onwards, recovery in the otherwise unrestored aquatic habitats stagnated.

Re-evaluating the Use of High Sensitivity Troponin to Diagnose Blunt Cardiac Injury.

Introduction: Blunt cardiac injury (BCI) can be challenging diagnostically, and if misdiagnosed, can lead to life-threatening complications. Our institution previously evaluated BCI screening with troponin and electrocardiogram (EKG) during a transition from troponin I to high sensitivity troponin (hsTnI), a more sensitive troponin I assay. The previous study found an hsTnI of 76 ng/L had the highest capability of accurately diagnosing a clinically significant BCI.

Towards implementation of cognitive bias modification in mental health care: State of the science, best practices, and ways forward.

Cognitive bias modification (CBM) has evolved from an experimental method testing cognitive mechanisms of psychopathology to a promising tool for accessible digital mental health care. While we are still discovering the conditions under which clinically relevant effects occur, the dire need for accessible, effective, and low-cost mental health tools underscores the need for implementation where such tools are available. Providing our expert opinion as Association for Cognitive Bias Modification members, we first discuss the readiness of different CBM approaches for clinical implementation, then discuss key considerations with regard to implementation.