Publications by authors named "Conor J Loy"

Kawasaki disease is a pediatric vasculitis and the leading cause of acquired heart disease in children. The heterogeneous clinical presentation of Kawasaki disease complicates diagnosis and treatment, highlighting the need for molecular signatures to stratify patients into subgroups to better understand pathogenesis. We performed plasma cell-free RNA sequencing on samples from 98 patients diagnosed with Kawasaki disease, 86 febrile children (62 viral infection, 24 bacterial infection), and 5 healthy children.

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Background: There is increasing interest in the use of circulating cell-free RNA (cfRNA) in plasma as an analyte for diagnosing and monitoring disease. While it is known that cfRNA can also be isolated from urine, the diagnostic potential of urine cfRNA, particularly relative to plasma cfRNA, remains underexplored.

Methods: Matched plasma and urine were collected from hematopoietic stem cell transplant (HSCT) recipients (n = 24), immune-checkpoint-inhibitor (ICI) recipients with or without acute kidney injury (AKI) (n = 46), and healthy volunteers (n = 5), yielding 297 samples.

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People living with myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) experience heterogeneous and debilitating symptoms that lack sufficient biological explanation, compounded by the absence of accurate, noninvasive diagnostic tools. To address these challenges, we explored circulating cell-free RNA (cfRNA) as a blood-borne bioanalyte to monitor ME/CFS. cfRNA is released into the bloodstream during cellular turnover and reflects dynamic changes in gene expression, cellular signaling, and tissue-specific processes.

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  • MicroRNAs, specifically miR-379-5p, have a crucial role in cancer by regulating gene expression, potentially suppressing or promoting tumor growth.
  • The study identifies the UBE2E3 gene as a target of miR-379-5p, whose expression is downregulated in various cancers, including breast and bladder cancer.
  • Experimental results confirmed that miR-379-5p directly suppresses UBE2E3 expression, leading to decreased cell viability and increased apoptotic rates, suggesting its significant role in cancer development.
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Inflammatory syndromes, including those caused by infection, are a major cause of hospital admissions among children and are often misdiagnosed because of a lack of advanced molecular diagnostic tools. In this study, we explored the utility of circulating cell-free RNA (cfRNA) in plasma as an analyte for the differential diagnosis and characterization of pediatric inflammatory syndromes. We profiled cfRNA in 370 plasma samples from pediatric patients with a range of inflammatory conditions, including Kawasaki disease (KD), multisystem inflammatory syndrome in children (MIS-C), viral infections, and bacterial infections.

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  • * Researchers explored the use of plasma cell-free RNA (cfRNA) as a biomarker for TB through RNA sequencing and machine learning, examining data from cohorts in Uganda, Vietnam, and the Philippines.
  • * They identified a 6-gene cfRNA signature that accurately distinguishes TB-positive from TB-negative individuals, achieving impressive sensitivity and specificity, making it a potential viable diagnostic tool that meets World Health Organization standards.
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  • Inflammatory syndromes in children often lead to hospital admissions and are frequently misdiagnosed due to the lack of advanced diagnostic tools.
  • The study analyzed circulating cell-free RNA (cfRNA) in plasma from 370 pediatric patients to differentiate between inflammatory conditions like Kawasaki disease (KD) and Multisystem Inflammatory Syndrome in Children (MIS-C).
  • Machine learning models based on cfRNA profiles successfully distinguished KD from MIS-C with high accuracy and also classified other conditions, while quantifying tissue injury in affected organs.
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  • - The study examines the different immune responses and tissue damage in pediatric patients with COVID-19 and Multisystem Inflammatory Syndrome in Children (MIS-C) using next-generation sequencing on blood samples from three hospitals.
  • - Analysis of plasma and whole-blood RNA reveals unique patterns of cell injury, with MIS-C showing greater organ involvement and specific gene expression changes compared to COVID-19.
  • - Findings highlight that while both diseases exhibit similar inflammatory pathways, MIS-C shows distinct downregulation of T cell-related pathways, providing insights for developing new biomarkers for these conditions.
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Tuberculosis (TB) remains a leading cause of death from an infectious disease worldwide. This is partly due to a lack of tools to effectively screen and triage individuals with potential TB. Whole blood RNA signatures have been extensively studied as potential biomarkers for TB, but they have failed to meet the World Health Organization's (WHOs) target product profiles (TPPs) for a non-sputum triage or diagnostic test.

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