Genomic ascertainment to quantify prevalence and cancer risk in adults with pathogenic and likely pathogenic germline variants in RASopathy genes.

Purpose: Genomic ascertainment of electronic health record-linked exome data in two large biobanks was used to quantify germline pathogenic/likely pathogenic (P/LP) variant prevalence, cancer prevalence, and survival in adults with non- RAS/mitogen-activated protein kinase genes (RASopathies).

Patients And Methods: Germline RASopathy variants were examined from adult participants in UK Biobank (UKBB; n=469,802), Geisinger MyCode (n=167,050) and Mount Sinai Bio (n=30,470). Variants were classified as per American College of Medical Genetics/Association for Molecular Pathology criteria and reviewed by a RASopathy variant expert.

Medicine Meets Science: The Imperative of Scientific Research and Publishing for Physician-Scientists.

Physician-scientists serve as conduits between clinical practice and scientific research, leveraging their unique expertise to improve patient care and drive medical innovation. This article highlights the indispensable role of research and publishing in promoting evidence-based practices, facilitating professional growth, and shaping public health policy. Drawing on historical and contemporary examples, I examine the challenges faced by physician-scientists, such as ethical dilemmas and declining engagement in research, particularly in resource-constrained settings.

Differentiating Latent Tuberculosis from Active Tuberculosis Through Activation Phenotypes and Chemokine Markers HLA-DR, CD38, MCP-1, and RANTES: A Systematic Review and Meta-Analysis.

Background: Latent TB infection (LTBI) affects one fourth of the global population. Currently, there is an absence of an optimal strategy for distinguishing between active tuberculosis (aTB) and LTBI. While some researchers have explored cytokines other than interferon-gamma (IFN-γ) as biomarkers, results have shown significant variability in their ability to differentiate between these conditions.

Evolution of amorphous ruthenium nanoclusters into stepped truncated nano-pyramids on graphitic surfaces boosts hydrogen production from ammonia.

Atomic-scale changes can significantly impact heterogeneous catalysis, yet their atomic mechanisms are challenging to establish using conventional analysis methods. By using identical location scanning transmission electron microscopy (IL-STEM), which provides quantitative information at the single-particle level, we investigated the mechanisms of atomic evolution of Ru nanoclusters during the ammonia decomposition reaction. Nanometre-sized disordered nanoclusters transform into truncated nano-pyramids with stepped edges, leading to increased hydrogen production from ammonia.

More π, please: What drives the formation of unsaturated molecules in the interstellar medium?

We present a computational investigation into the fragmentation pathways of ethanolamine (CHNO, EtA), propanol (CHO, PrO), butanenitrile (CHN, BuN), and glycolamide (CHNO, GlA)-saturated organic molecules detected in the interstellar medium (ISM), particularly in the molecular cloud complex Sagittarius B2 (Sgr B2) and its molecular cloud G+0.693-0.027.

The recent landscape of RSV vaccine research.

Respiratory syncytial virus (RSV) causes a significant burden of acute respiratory illness across all ages, particularly for infants and older adults. Infants, especially those born prematurely or with underlying health conditions, face a high risk of severe RSV-related lower respiratory tract infections (LRTIs). Globally, RSV contributes to millions of LRTI cases annually, with a disproportionate burden in low- and middle-income countries (LMICs).

Open-mindedness and phenomenological psychopathology: an intellectual virtue account of phenomenology and three educational recommendations.

In his account of phenomenological psychopathology, Karl Jaspers advocates for the central role of subjective experience, something which he maintains cannot be accessed through intellectual effort, but through "empathic understanding" alone. In contradistinction to Jaspers' account, I propose that phenomenology, as a process of inquiry and investigation, is fundamentally epistemological. Accordingly, I offer an intellectual virtue characterization of phenomenological psychopathology, using open-mindedness to illustrate the close conceptual links between the phenomenological endeavor and the intellectual virtues.

Translation of dynamic contrast-enhanced imaging onto a magnetic resonance-guided linear accelerator in patients with head and neck cancer.

Background And Purpose: Magnetic resonance imaging - linear accelerator (MRI-linac) systems permit imaging of tumours to guide treatment. Dynamic contrast enhanced (DCE)-MRI allows investigation of tumour perfusion. We assessed the feasibility of performing DCE-MRI on a 1.

Drug use and acute kidney injury: a Drug-Wide Association Study (DWAS) in Denmark and Sweden.

Background: Knowledge of which medications may lead to acute kidney injury (AKI) is limited, relying mostly on spontaneous reporting in pharmacovigilance systems. We here conducted an exploratory drug-wide association study (DWAS) to screen for associations between dispensed drugs and AKI risk.

Methods: Using two large Danish and Swedish data linkages, we identified AKI hospitalizations occurring between April 1997 and December 2021 in Denmark and between March 2007 and December 2021 in Sweden.

Direct measurement of three different deformations near the ground state in an atomic nucleus.

Atomic nuclei serve as prime laboratories for investigations of complex quantum phenomena, where minor nucleon rearrangements cause significant structural changes. Pb is the heaviest known neutron-deficient Pb isotope that can exhibit three distinct shapes: prolate, oblate, and spherical, with nearly degenerate excitation energies. Here we report on the combined results from three state-of-the-art measurements to directly observe these deformations in Pb.

The impact of self-reported burnout and work-related quality of life on nurses' intention to leave the profession during the COVID-19 pandemic: A cross-sectional study.

The challenges of maintaining an effective and sustainable healthcare workforce include the recruitment and retention of skilled nurses. COVID-19 exacerbated these challenges, but they persist beyond the pandemic. We explored the impact of work-related quality of life and burnout on reported intentions to leave a variety of healthcare professions including nursing.

Efficacy and Safety of Ileal Bile Acid Transport Inhibitors in Inherited Cholestatic Liver Disorders: A Meta-analysis of Randomized Controlled Trials.

Background: Inherited cholestatic liver disorders such as progressive familial intrahepatic cholestasis (PFIC) and Alagille syndrome result in significant pruritus and increased serum bile acids, necessitating liver transplantation. This study aims to evaluate the efficacy and safety of Ileal bile acid transport inhibitors (IBATIs) in children with PFIC and Alagille syndrome.

Methods: We conducted a comprehensive search across the databases to identify relevant randomized controlled trials (RCTs), and Covidence was used to screen eligible articles.

A modern, flexible cloud-based database and computing service for real-time analysis of vehicle emissions data.

In response to the demand for advanced tools in environmental monitoring and policy formulation, this work leverages modern software and big data technologies to enhance novel road transport emissions research. This is achieved by making data and analysis tools more widely available and customisable so users can tailor outputs to their requirements. Through the novel combination of vehicle emissions remote sensing and cloud computing methodologies, these developments aim to reduce the barriers to understanding real-driving emissions (RDE) across urban environments.

Cryptochrome magnetoreception: Time course of photoactivation from non-equilibrium coarse-grained molecular dynamics.

Magnetoreception, the ability to sense magnetic fields, is widespread in animals but remains poorly understood. The leading model links this ability in migratory birds to the photo-activation of the protein cryptochrome. Magnetic information is thought to induce structural changes in cryptochrome via a transient radical pair intermediate.

Designing a filler material to reduce dielectric loss in epoxy-based substrates for high-frequency applications.

In response to the demand for epoxy-based dielectric substrates with low dielectric loss in high-frequency and high-speed signal transmission applications, this study presents a surface-engineered filler material. Utilizing ball-milling, surface-modified aluminum flakes containing organic (stearic acid) and inorganic (aluminum oxide) coatings are developed. Incorporation of the filler into the epoxy matrix results in a significant increase in dielectric permittivity, by nearly 5 times (from 4.

Methacrylate-based copolymers as tunable hosts for triplet-triplet annihilation upconversion.

The ability to convert light to higher energies through triplet-triplet annihilation upconversion (TTA-UC) is attractive for a range of applications including solar energy harvesting, bioimaging and anti-counterfeiting. Practical applications require integration of the TTA-UC chromophores within a suitable host, which leads to a compromise between the high upconversion efficiencies achievable in liquids and the durability of solids. Herein, we present a series of methacrylate copolymers as TTA-UC hosts, in which the glass transition temperature ( ), and hence upconversion efficiency can be tuned by varying the co-monomer ratios (-hexyl methacrylate (HMA) and 2,2,2-trifluoroethyl methacrylate (TFEMA)).

Erratum to 'Long-Term Outcomes of the Knee and Hip Arthroplasties in Patients with Alkaptonuria' [Arthroplasty Today. Volume 6, Issue 4, December 2020, Pages 689-693].

[This corrects the article DOI: 10.1016/j.artd.

Corrigendum to 'Small-colony variant of Staphylococcus lugdunensis in prosthetic joint Infection' [Arthroplasty Today. Volume 4, Issue 3, September 2018, Pages 257-260].

[This corrects the article DOI: 10.1016/j.artd.

Resolution of hypogammaglobulinemia-associated recurrent bacteraemia after hematopoietic cell transplantation (HCT).

Primary or secondary hypogammaglobulinemia is associated with persistent norovirus and infections despite immunoglobulin replacement therapy. Allogeneic hematopoietic cell transplantation for hematologic indications can lead to immune reconstitution by correcting a previously undiagnosed concurrent primary immunodeficiency.

Novel application of an imageless robotic system in simultaneous unicompartmental knee arthroplasty and anterior cruciate ligament reconstruction.

This technical note explores the novel use of an imageless robotic surgical system for simultaneous unicompartmental knee arthroplasty (UKA) and anterior cruciate ligament reconstruction (ACLR). Knee osteoarthritis (OA) and anterior cruciate ligament (ACL) insufficiency are common conditions that traditionally require separate management. The integration of robotic assistance offers enhanced precision in surgical procedures, addressing both medial compartment OA and ACL insufficiency in a single operation.

Systemic sclerosis-associated severe gastric antral vascular ectasia treated with tocilizumab:A case report and review of the literature.

Gastric antral vascular ectasia is a frequent and potentially severe complication of systemic sclerosis. Management is presently limited to supportive care, acid suppression and endoscopic treatment. Many cases of gastric antral vascular ectasia tend to be refractory or partially responsive to standard treatment and require multiple endoscopic procedures to control the recurrent bleeding.

Pregnancy Loss Was Associated With the Increased Risk of Cardiovascular Diseases in Middle-Aged Women: Evidence From the China Health and Retirement Longitudinal Study.

Objectives: Significant associations between pregnancy loss and risk of future maternal cardiovascular disease (CVD) have been found in Western countries, but the association in China is still unclear. Therefore, this study aimed to investigate the associations of pregnancy loss, number of pregnancy losses, subtype of pregnancy loss (i.e.