Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.

Genetic diagnosis of rare diseases requires accurate identification and interpretation of genomic variants. Clinical and molecular scientists from 37 expert centers across Europe created the Solve-Rare Diseases Consortium (Solve-RD) resource, encompassing clinical, pedigree and genomic rare-disease data (94.5% exomes, 5.

Improving timing resolution of BGO for TOF-PET: a comparative analysis with and without deep learning.

Background: The renewed interest in BGO scintillators for TOF-PET is driven by the improved Cherenkov photon detection with new blue-sensitive SiPMs. However, the slower scintillation light from BGO causes significant time walk with leading edge discrimination (LED), which degrades the coincidence time resolution (CTR). To address this, a time walk correction (TWC) can be done by using the rise time measured with a second threshold.

Instruments for Evaluating Undergraduate Medical Education in Complementary and Integrative Medicine: A Systematic Review.

The provision of courses in complementary and integrative medicine (CIM) varies widely between medical schools. To effectively improve CIM education, it is essential to use robust evaluation instruments that measure the impact of different educational interventions. This review aimed to identify and critically appraise qualitative and quantitative instruments used to evaluate CIM courses in undergraduate medical education.

Thiol-Reactive or Redox-Active: Revising a Repurposing Screen Led to a New Invalidation Pipeline and Identified a True Noncovalent Inhibitor Against Papain-like Protease from SARS-CoV-2.

The SARS-CoV-2 papain-like protease PLpro has multiple roles in the viral replication cycle, related to both its polypeptide cleavage function and its ability to antagonize the host immune response. Targeting the PLpro function is recognized as a promising mechanism to modulate viral replication, while supporting host immune responses. However, the development of PLpro-specific inhibitors remains challenging.

Prognostic impact of expression of CD2, CD25, and/or CD30 in/on mast cells in systemic mastocytosis: a registry study of the European Competence Network on Mastocytosis.

Expression of CD2, CD25 and/or CD30 in extracutaneous mast cells (MC) is a minor diagnostic criterion for systemic mastocytosis (SM) in the classification of the World Health Organization and International Consensus Classification. So far, it remains unknown whether expression of these antigens on MC is of prognostic significance in SM. We performed a retrospective multi-center study of patients with SM using the data set of the registry of the European Competence Network on Mastocytosis, including 5034 patients with various MC disorders.

The impact of neoadjuvant therapy in patients with left-sided resectable pancreatic cancer: an international multicenter study.

Purpose: To assess the association between neoadjuvant therapy and overall survival (OS) in patients with left-sided resectable pancreatic cancer (RPC) compared to upfront surgery.

Background: Left-sided pancreatic cancer is associated with worse OS compared to right-sided pancreatic cancer. Although neoadjuvant therapy is currently seen as not effective in patients with RPC, current randomized trials included mostly patients with right-sided RPC.

Relationships of eating behaviors with psychopathology, brain maturation and genetic risk for obesity in an adolescent cohort study.

Unhealthy eating, a risk factor for eating disorders (EDs) and obesity, often coexists with emotional and behavioral problems; however, the underlying neurobiological mechanisms are poorly understood. Analyzing data from the longitudinal IMAGEN adolescent cohort, we investigated associations between eating behaviors, genetic predispositions for high body mass index (BMI) using polygenic scores (PGSs), and trajectories (ages 14-23 years) of ED-related psychopathology and brain maturation. Clustering analyses at age 23 years ( = 996) identified 3 eating groups: restrictive, emotional/uncontrolled and healthy eaters.

Survival of Eurasian lynx in the human-dominated landscape of Europe.

Survival and cause-specific mortality rates are vital for evidence-based population forecasting and conservation, particularly for large carnivores, whose populations are often vulnerable to human-caused mortalities. It is therefore important to know the relationship between anthropogenic and natural mortality causes to evaluate whether they are additive or compensatory. Further, the relation between survival and environmental covariates could reveal whether specific landscape characteristics influence demographic performance.

Global Perspectives on Returning Genetic Research Results in Parkinson Disease.

Background And Objectives: In the era of precision medicine, genetic test results have become increasingly relevant in the care of patients with Parkinson disease (PD). While large research consortia are performing widespread research genetic testing to accelerate discoveries, debate continues about whether, and to what extent, the results should be returned to patients. Ethically, it is imperative to keep participants informed, especially when findings are potentially actionable.

Predictive equation derived from 6,497 doubly labelled water measurements enables the detection of erroneous self-reported energy intake.

Nutritional epidemiology aims to link dietary exposures to chronic disease, but the instruments for evaluating dietary intake are inaccurate. One way to identify unreliable data and the sources of errors is to compare estimated intakes with the total energy expenditure (TEE). In this study, we used the International Atomic Energy Agency Doubly Labeled Water Database to derive a predictive equation for TEE using 6,497 measures of TEE in individuals aged 4 to 96 years.

Data reuse in agricultural genomics research: challenges and recommendations.

The scientific community has long benefited from the opportunities provided by data reuse. Recognizing the need to identify the challenges and bottlenecks to reuse in the agricultural research community and propose solutions for them, the data reuse working group was started within the AgBioData consortium framework. Here, we identify the limitations of data standards, metadata deficiencies, data interoperability, data ownership, data availability, user skill level, resource availability, and equity issues, with a specific focus on agricultural genomics research.

Incidence and prevalence of traumatic and non-traumatic wounds and burns and access to wound care in Sierra Leone; data from a nationwide household survey (PRESSCO) 2020.

Objectives: This wound section of the PREvalence Study on Surgical COnditions (PRESSCO) determines the incidence and prevalence of wounds and burns in Sierra Leone. It further describes access to wound care and wound-related healthcare-seeking behaviour.

Methods: Between October 2019 and March 2020, a nationwide cross-sectional household survey was performed.

An Overview of Patient-reported Outcomes for Men with Prostate Cancer: Results from the PIONEER Consortium.

Background And Objective: Patient-reported outcome measures (PROMs) are increasingly being used to capture the patients' perspective of their functional status and quality of life (QoL). Big data can help us better understand patient-reported outcomes (PROs). Using prospectively collected data from the Prostate Cancer Diagnosis and Treatment Enhancement Through the Power of Big Data in Europe (PIONEER) consortium, we aimed to describe the functional status and QoL in men with prostate cancer (PCa) treated with active surveillance (AS), radical prostatectomy (RP), and radiotherapy (RT), and to demonstrate the applicability of PROM data on a large scale and at a European level.

Functional resting state connectivity is differentially associated with IL-6 and TNF-α in depression and in healthy controls.

Inflammatory processes have been implicated in the pathophysiology of depression. In human studies, inflammation has been shown to act as a critical disease modifier, promoting susceptibility to depression and modulating specific endophenotypes of depression. However, there is scant documentation of how inflammatory processes are associated with neural activity in patients with depression.

Pancreaticobiliary Maljunction and Its Relationship with Biliary Cancer: An Updated and Comprehensive Systematic Review and Meta-Analysis on Behalf of TROGSS-The Robotic Global Surgical Society.

Objective: This systematic review and meta-analysis aimed to determine the degree to which pancreaticobiliary maljunction (PBM) increases the risk of different types of biliary cancer (BC).

Methods: A systematic review and meta-analysis were carried out using the following databases: PubMed, Embase, Cochrane Library, Scopus, Web of Science, and Science Direct. We systematically searched from inception to April 2024.

A reproducibility study on invasion in small pulmonary adenocarcinoma according to the WHO and a modified classification, supported by biomarkers.

Objectives: Evaluating invasion in non-mucinous adenocarcinoma (NMA) of the lung is crucial for accurate pT-staging. This study compares the World Health Organization (WHO) with a recently modified NMA classification.

Materials And Methods: A retrospective case-control study was conducted on small NMA pT1N0M0 cases with a 5-year follow-up.

Effectiveness of a comic book intervention on mental health literacy among adolescents and youth in Burkina Faso: a randomized controlled trial protocol.

Background: In Burkina Faso, nearly half of the population is under 15 years old, and one in four adolescents experience depression. This underscores the critical need to enhance mental health literacy among adolescents and youth, empowering them to manage their mental well-being effectively. Comic books offer an engaging approach to health education, yet their effectiveness in addressing mental health remains largely untested.

A data management system for precision medicine.

Precision, or personalised medicine has advanced requirements for medical data management systems (MedDMSs). MedDMS for precision medicine should be able to process hundreds of parameters from multiple sites, be adaptable while remaining in sync at multiple locations, real-time syncing to analytics and be compliant with international privacy legislation. This paper describes the LogiqSuite software solution, aimed to support a precision medicine solution at the patient care (LogiqCare), research (LogiqScience) and data science (LogiqAnalytics) level.

C-Reactive Protein Levels and Outcomes in Infarct-Related Cardiogenic Shock: Data from the ECLS-SHOCK Trial.

Background: The impact of systemic inflammation in acute myocardial infarction complicated by cardiogenic shock (AMI-CS) is still a matter of debate. The present ECLS-SHOCK sub-study investigates the association of C-reactive protein (CRP) levels with short-term outcomes in patients with AMI-CS.

Methods: Patients with AMI-CS enrolled in the multicenter, randomized ECLS-SHOCK trial between 2019 and 2022 were included.

Reliability generalization meta-analysis of the internal consistency of the Big Five Inventory (BFI) by comparing BFI (44 items) and BFI-2 (60 items) versions controlling for age, sex, language factors.

Introduction: The Big Five Inventory (BFI) is a popular measure that evaluates personality on the Big-Five model. Apart from its utilization across cultures, the literature did not reveal any meta-analysis for the reliability of the different versions of the BFI and its translations. The current study carried out a reliability generalization meta-analysis (REGEMA) to establish the reliability of the BFI across cultures and languages.

Risk ranking of mycotoxins in plant-based meat and dairy alternatives under protein transition scenarios.

While reducing the consumption of animal-source foods is recommended for planetary and human health, potential emerging food safety risks associated with the transition to dietary patterns featuring plant-based meat (PBMA) and dairy alternatives (PBDA) remain unexplored. We assessed the exposure to mycotoxins and ranked the associated health risks related to the consumption of PBMA and PBDA. We simulated diets by replacing animal-source proteins with their plant-based alternatives.

The impacts of alien species on river bioassessment.

The extent of alien taxa impacts on river ecosystem health is unclear, but their frequency continues to rise. We investigated 1) the prevalence of including alien taxa in common bioindicators used in river bioassessment, 2) the effect of alien taxa on the richness and abundance of natives, and 3) whether including alien taxa in bioassessment tools increased their sensitivity to river degradation. In the 17 countries analyzed fish represented the greatest number of alien species (1726), followed by macrophytes (925), macroinvertebrates (556), and diatoms (7).

Phase separation of initiation hubs on cargo is a trigger switch for selective autophagy.

Autophagy is a key cellular quality control mechanism. Nutrient stress triggers bulk autophagy, which nonselectively degrades cytoplasmic material upon formation and liquid-liquid phase separation of the autophagy-related gene 1 (Atg1) complex. In contrast, selective autophagy eliminates protein aggregates, damaged organelles and other cargoes that are targeted by an autophagy receptor.

Clinical validation of an artificial intelligence-based decision support system for diagnosis and risk stratification of heart failure (STRATIFYHF): a protocol for a prospective, multicentre longitudinal study.

Introduction: Heart failure (HF) is a complex clinical syndrome. Accurate risk stratification and early diagnosis of HF are challenging as its signs and symptoms are non-specific. We propose to address this global challenge by developing the STRATIFYHF artificial intelligence-driven decision support system (DSS), which uses novel analytical methods in determining the risk, diagnosis and prognosis of HF.