Publications by authors named "Robyn Ball"

Purpose To evaluate the performance of the winning machine learning (ML) models from the 2023 RSNA Abdominal Trauma Detection Artificial Intelligence Challenge. Materials and Methods The competition was hosted on Kaggle and took place between July 26, 2023, to October 15, 2023. The multicenter competition dataset consisted of 4,274 abdominal trauma CT scans in which solid organs (liver, spleen and kidneys) were annotated as healthy, low-grade or high-grade injury.

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Purpose To evaluate the performance of the top models from the RSNA 2022 Cervical Spine Fracture Detection challenge on a clinical test dataset of both noncontrast and contrast-enhanced CT scans acquired at a level I trauma center. Materials and Methods Seven top-performing models in the RSNA 2022 Cervical Spine Fracture Detection challenge were retrospectively evaluated on a clinical test set of 1828 CT scans (from 1829 series: 130 positive for fracture, 1699 negative for fracture; 1308 noncontrast, 521 contrast enhanced) from 1779 patients (mean age, 55.8 years ± 22.

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The Radiological Society of North America (RSNA) has held artificial intelligence competitions to tackle real-world medical imaging problems at least annually since 2017. This article examines the challenges and processes involved in organizing these competitions, with a specific emphasis on the creation and curation of high-quality datasets. The collection of diverse and representative medical imaging data involves dealing with issues of patient privacy and data security.

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Article Synopsis
  • Research on various inbred mouse strains has advanced our understanding of genetic variants linked to diseases, with a vast array of traits cataloged for public access.* -
  • New mouse models and enhanced genomic data sets help improve trait-variant analysis, although issues like sparse genotypes and data incompatibility remain obstacles.* -
  • The development of GenomeMUSter, a comprehensive data resource, addresses these issues by offering extensive single-nucleotide variant data, facilitating cross-species comparisons and broadening the applications in genetic research related to health and disease.*
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  • The Radiological Society of North America conducted a competition from July to October 2022 to evaluate AI algorithms for detecting cervical spine fractures using 3,112 CT scans from various institutions.
  • The competition attracted 1,108 contestants, resulting in eight top-performing algorithms with impressive metrics: mean AUC of 0.96, F1 score of 90%, sensitivity of 88%, and specificity of 94%.
  • The outcomes showed significant improvements compared to earlier models, indicating potential for clinical application, though further research is needed to assess their generalizability.
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This dataset is composed of cervical spine CT images with annotations related to fractures; it is available at https://www.kaggle.com/competitions/rsna-2022-cervical-spine-fracture-detection/.

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  • Researchers have developed the GenomeMUSter data resource to improve the analysis of genetic variants in laboratory mouse strains, helping to better understand complex diseases.
  • This resource features detailed allelic data for 657 mouse strains at over 106 million segregating sites, which aids in linking various traits to genetic variants.
  • The platform also allows for integration with phenotype databases and supports advanced analyses, such as comparing mouse and human data for conditions like Type 2 Diabetes and substance use disorders, enhancing genetics research in health.
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  • - The Mouse Phenome Database is a curated repository that provides detailed information and tools for analyzing attributes of various mouse populations, including 657 mouse strains and community standard ontologies.
  • - It has evolved from focusing on inbred strains to encompassing diverse populations like the Diversity Outbred and Collaborative Cross, and recently includes data from the International Mouse Phenotyping Consortium.
  • - The database offers an interactive tool suite for users to perform analyses such as correlation and trait pattern matching, supporting research on phenotypic variation related to health and disease across different lifespans.
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The Diversity Outbred (DO) mice and their inbred founders are widely used models of human disease. However, although the genetic diversity of these mice has been well documented, their epigenetic diversity has not. Epigenetic modifications, such as histone modifications and DNA methylation, are important regulators of gene expression and, as such, are a critical mechanistic link between genotype and phenotype.

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Existing phenotype ontologies were originally developed to represent phenotypes that manifest as a character state in relation to a wild-type or other reference. However, these do not include the phenotypic trait or attribute categories required for the annotation of genome-wide association studies (GWAS), Quantitative Trait Loci (QTL) mappings or any population-focussed measurable trait data. The integration of trait and biological attribute information with an ever increasing body of chemical, environmental and biological data greatly facilitates computational analyses and it is also highly relevant to biomedical and clinical applications.

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Histamine plays pivotal role in normal physiology and dysregulated production of histamine or signaling through histamine receptors (HRH) can promote pathology. Previously, we showed that Bordetella pertussis or pertussis toxin can induce histamine sensitization in laboratory inbred mice and is genetically controlled by Hrh1/HRH1. HRH1 allotypes differ at three amino acid residues with P-V-L and L-M-S, imparting sensitization and resistance respectively.

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Existing phenotype ontologies were originally developed to represent phenotypes that manifest as a character state in relation to a wild-type or other reference. However, these do not include the phenotypic trait or attribute categories required for the annotation of genome-wide association studies (GWAS), Quantitative Trait Loci (QTL) mappings or any population-focused measurable trait data. Moreover, variations in gene expression in response to environmental disturbances even without any genetic alterations can also be associated with particular biological attributes.

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Article Synopsis
  • - The Mouse Phenome Database (MPD) is a comprehensive resource that collects and organizes phenotype and genotype data from mouse studies, supported by the NIH and compliant with FAIR data principles.
  • - MPD features data from over 6000 mouse strains and populations, incorporating various characteristics related to genetics, behavior, morphology, and disease, and provides detailed metadata to enhance data usability.
  • - The database includes analysis tools for users to visualize and aggregate data from different studies, ensuring access to high-quality, reproducible results that are relevant for translational research.
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The emergence of the COVID-19 pandemic over a relatively brief interval illustrates the need for rapid data-driven approaches to facilitate clinical decision making. We examined a machine learning process to predict inpatient mortality among COVID-19 patients using clinical and chest radiographic data. Modeling was performed with a de-identified dataset of encounters prior to widespread vaccine availability.

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This dataset is composed of annotations of the five hemorrhage subtypes (subarachnoid, intraventricular, subdural, epidural, and intraparenchymal hemorrhage) typically encountered at brain CT.

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Background: Acute diarrhoeal disease management often requires rehydration alone without antibiotics. However, non-indicated antibiotics are frequently ordered and this is an important driver of antimicrobial resistance. The mHealth Diarrhoea Management (mHDM) trial aimed to establish whether electronic decision support improves rehydration and antibiotic guideline adherence in resource-limited settings.

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Tuberculosis (TB) is the leading cause of preventable death in HIV-positive patients, and yet often remains undiagnosed and untreated. Chest x-ray is often used to assist in diagnosis, yet this presents additional challenges due to atypical radiographic presentation and radiologist shortages in regions where co-infection is most common. We developed a deep learning algorithm to diagnose TB using clinical information and chest x-ray images from 677 HIV-positive patients with suspected TB from two hospitals in South Africa.

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Pulmonary embolism (PE) is a life-threatening clinical problem and computed tomography pulmonary angiography (CTPA) is the gold standard for diagnosis. Prompt diagnosis and immediate treatment are critical to avoid high morbidity and mortality rates, yet PE remains among the diagnoses most frequently missed or delayed. In this study, we developed a deep learning model-PENet, to automatically detect PE on volumetric CTPA scans as an end-to-end solution for this purpose.

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Background: Intracoronary acetylcholine (Ach) provocation testing is the gold standard for assessing coronary endothelial function. However, dosing regimens of Ach are quite varied in the literature, and there are limited data evaluating the optimal dose. We evaluated the dose-response relationship between Ach and minimal lumen diameter (MLD) by sex and studied whether incremental intracoronary Ach doses given during endothelial function testing improve its diagnostic utility.

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