Clinical Implementation of a High-Throughput Automated Comprehensive Genomic Profiling Test: TruSight Oncology 500 HT.

The adoption of comprehensive genomic profiling in oncology has rapidly increased the demand for standardized tumor sample processing in diagnostic laboratories. Automation of DNA and RNA library preparation workflows offers the possibility to scale-up and standardize sample processing. We report on the clinical implementation of the automated TruSight Oncology 500 High-Throughput library preparation workflow from formalin-fixed, paraffin-embedded tumor samples using the Biomek i7 hybrid Workstation.

Development of a new breath collection method for analyzing volatile organic compounds from intubated mouse models.

A new pre-clinical method for capturing breath samples from intubated mice is presented. This method significantly reduces background levels, allowing more accurate measurements of VOCs originating from the breath ("on-breath") as opposed to background contamination. The method was developed by integrating industry-standard volatile-capturing sorbent tubes with respiratory mechanics measurement equipment (flexiVent), resulting in a mouse breath sample that can be transported and analyzed by TD-GC-MS and other central lab technologies.

The burden of unexpected costs in medical school.

Background: The cost of medical school continues to climb. What has yet to be well-understood are the so-called "unexpected costs" of medical school that, while not explicitly required, are considered paramount to success. This study aims to identify, quantify, and analyze the impacts of these costs of medical school and offer suggestions in alleviating these burdens.

The Role of Electron Transfer in Copper-Mediated C(sp)-H Trifluoromethylation.

We report copper(II) and copper(III) trifluoromethyl complexes supported by a pyridinedicarboxamide ligand (L) as a platform for investigating the role of electron transfer in C(sp)-H trifluoromethylation. While the copper(II) trifluoromethyl complex is unreactive towards (hetero)arenes, the formal copper(III) trifluoromethyl complex performs C(sp)-H trifluoromethylation of a wide range of (hetero)arenes. Mechanistic studies using the copper(III) trifluoromethyl complex suggest that the mechanism of arene trifluoromethylation is substrate-dependent.

A systematic review and meta-analysis of the relationship between subjective interoception and alexithymia: Implications for construct definitions and measurement.

Although research indicates that self-reported interoception is associated with deficits in identifying and describing emotional experience, and externally oriented thinking styles (alexithymia), this relationship appears moderated by how interoception is measured. A systematic review and meta-analyses examined the association between self-reported interoception and alexithymia, investigating how different interoceptive questionnaires relate to alexithymia at global and facet levels. PsychINFO, PubMed, Scopus, and Web of Science databases were searched with predefined terms related to self-reported interoception and alexithymia.

Strategies for integrating artificial intelligence into mammography screening programmes: a retrospective simulation analysis.

Background: Integrating artificial intelligence (AI) into mammography screening can support radiologists and improve programme metrics, yet the potential of different strategies for integrating the technology remains understudied. We compared programme-level performance metrics of seven AI integration strategies.

Methods: We performed a retrospective comparative evaluation of seven strategies for integrating AI into mammography screening using datasets generated from screening programmes in Germany (n=1 657 068), the UK (n=223 603) and Sweden (n=22 779).

Hemodynamic instability in the transitional period after birth.

It is not uncommon for a patient to experience hemodynamic instability following birth. This is due to the fact that the transitional period requires dramatic cardiorespiratory changes. When it goes well, improved lung compliance and successful transition to the postnatal circulation is seen.

Understanding the challenges of robotic-assisted surgery adoption: Perspectives from stakeholders and the general population on human-interaction, built environment, and training.

This study aims to explore adoption barriers from three aspects critical to facilitating robotic-assisted-surgery (RAS) adoption: the human-robot-interaction, built-environment, and training. Guidelines for research and design are identified from these perspectives. This study consisted of three phases: 1) surveys to RAS stakeholders and a crowd-sourcing survey; 2) stakeholder focus groups; and 3) a workshop with subject-matter experts to prioritize future research for RAS.

Critically unwell infants and children with mitochondrial disorders diagnosed by ultrarapid genomic sequencing.

Purpose: To characterize the diagnostic and clinical outcomes of a cohort of critically ill infants and children with suspected mitochondrial disorders (MD) undergoing ultrarapid genomic testing as part of a national program.

Methods: Ultrarapid genomic sequencing was performed in 454 families (genome sequencing: n = 290, exome sequencing +/- mitochondrial DNA sequencing: n = 164). In 91 individuals, MD was considered, prompting analysis using an MD virtual gene panel.

Predicting post-surgical complications using renal scoring systems.

Current surgical approaches for renal malignancies primarily rely on qualitative factors such as patient preferences, surgeon experience, and hospital capabilities. Applying a quantitative method for consistent and reliable assessment of renal lesions would significantly enhance surgical decision-making and facilitate data comparison. Nephrometry scoring (NS) systems systematically evaluate and describe renal tumors based on their anatomical features.

A perspective on integration and outreach: Guiding concepts in the evolution of health informatics.

Background: The National Library of Medicine's Integrated Academic/Advanced Information Management Systems (IAIMS) initiative played a central role in the evolution of health informatics over the project's lifetime (1983-2009) and continues to do so.

Aim: Our objective is to demonstrate how IAIMS and two key IAIMS concepts, integration and outreach, have functioned at very different times during this evolutionary process.

Approach: Using a framework drawn from Lorenzi and Stead's 2021 history of IAIMS, we examine the role of integration and outreach in work at the University of Maryland Baltimore (UMB) in the early 1980s and at the University of Texas Arlington (UTA) in 2020.

A novel pathogenic germline chromosome 3 inversion in von Hippel-Lindau disease.

von Hippel-Lindau (VHL) is an autosomal-dominant hereditary tumour susceptibility disease associated with pathogenic germline variants in the tumour suppressor gene. VHL patients are at increased risk of developing multiple benign and malignant tumours. Current CLIA-based genetic tests demonstrate a very high detection rate of germline variants in patients with clinical manifestations of VHL.

Squeezing the quantum noise of a gravitational-wave detector below the standard quantum limit.

The Heisenberg uncertainty principle dictates that the position and momentum of an object cannot be simultaneously measured with arbitrary precision, giving rise to an apparent limitation known as the standard quantum limit (SQL). Gravitational-wave detectors use photons to continuously measure the positions of freely falling mirrors and so are affected by the SQL. We investigated the performance of the Laser Interferometer Gravitational-Wave Observatory (LIGO) after the experimental realization of frequency-dependent squeezing designed to surpass the SQL.

Imaging finding of renal masses associated with pathogenic variation in succinate dehydrogenase subunit B gene.

Purpose: Succinate dehydrogenase (SDH)-deficient renal cell carcinoma (RCC) is a newly defined, rare subtype of renal cancer, associated with pathogenic variations in the Succinate Dehydrogenase Subunit B (SDHB) gene. Our aim is to investigate the imaging findings of SDHB-associated renal tumors, utilizing cross-sectional and FDG-PET imaging in patients with pathogenic variations in SDHB gene, to facilitate accurate tumor characterization.

Methods: Twenty SDH-deficient tumors from 16 patients with pathogenic variations in SDHB gene were retrospectively evaluated using cross-sectional and FDG-PET imaging.

High-quality identification of volatile organic compounds (VOCs) originating from breath.

Introduction: Volatile organic compounds (VOCs) can arise from underlying metabolism and are detectable in exhaled breath, therefore offer a promising route to non-invasive diagnostics. Robust, precise, and repeatable breath measurement platforms able to identify VOCs in breath distinguishable from background contaminants are needed for the confident discovery of breath-based biomarkers.

Objectives: To build a reliable breath collection and analysis method that can produce a comprehensive list of known VOCs in the breath of a heterogeneous human population.

Finding the beat: A partnership to address the relationship between a music program and health among youth who have experienced trauma.

Objective: Expertise on treating trauma and traumatic stress sequelae has been siloed in the mental health professions, although somatic psychotherapies and adjuncts to treatment are gaining attention. Alternative and accessible interventions are needed, especially for youth who have experienced trauma. Lost Voices is a community-based group providing trauma-informed music therapy to youth who have experienced trauma in southern Michigan.

Improving quality in adult long covid services: Findings from the LOCOMOTION quality improvement collaborative.

The protracted form of COVID-19 known as 'long covid' was first described in 2020. Its symptoms, course and prognosis vary widely; some patients have a multi-system, disabling and prolonged illness. In 2021, ring-fenced funding was provided to establish 90 long covid clinics in England; some clinics were also established in Scotland and Wales.

Neonatal Risk Factors for Pulmonary Vein Stenosis in Infants Born Preterm with Severe Bronchopulmonary Dysplasia.

Objective: To evaluate associations between neonatal risk factors and pulmonary vein stenosis (PVS) among infants born preterm with severe bronchopulmonary dysplasia (sBPD).

Study Design: We performed a case-control study of infants born from 2010 to 2022 at <32 weeks' gestation with sBPD among 46 neonatal intensive care units in the Children's Hospitals Neonatal Consortium. Cases with PVS were matched to controls using epoch of diagnosis (2010-2016; 2017-2022) and hospital.

Single-cell transcriptomics identifies aberrant glomerular angiogenic signalling in the early stages of WT1 kidney disease.

WT1 encodes a podocyte transcription factor whose variants can cause an untreatable glomerular disease in early childhood. Although WT1 regulates many podocyte genes, it is poorly understood which of them are initiators in disease and how they subsequently influence other cell-types in the glomerulus. We hypothesised that this could be resolved using single-cell RNA sequencing (scRNA-seq) and ligand-receptor analysis to profile glomerular cell-cell communication during the early stages of disease in mice harbouring an orthologous human mutation in WT1 (Wt1).