Publications by authors named "L Stubbs"

Article Synopsis
  • The study focuses on juvenile-onset localized scleroderma and aims to raise awareness about its often-overlooked symptoms and the importance of timely treatment.
  • The research involved 341 patients, primarily female and Caucasian, showing that many experience additional symptoms outside of skin manifestations, particularly in musculoskeletal and neurological areas.
  • Results indicate that early diagnosis and systemic therapy lead to significant improvements in patients' conditions, emphasizing the need for healthcare providers to recognize and treat this disease earlier.
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The diagnosis of bloodborne viral infections (viremia) is currently relegated to central laboratories because of the complex procedures required to detect viruses in blood samples. The development of point-of-care diagnostics for viremia would enable patients to receive a diagnosis and begin treatment immediately instead of waiting days for results. Point-of-care systems for viremia have been limited by the challenges of integrating multiple precise steps into a fully automated (i.

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Article Synopsis
  • Eosinophilic fasciitis (EF) is a rare condition affecting the skin and muscles, but there’s limited research on how it presents in children compared to adults.
  • A study reviewed six pediatric cases of EF, identifying symptoms like painful swelling and joint limitations, with most patients being female and diagnosed between ages 4 and 16.
  • Treatment varied but included corticosteroids and other immunosuppressive drugs; unlike adults, no malignancies or trauma were found in these children, and a specific sign called the "prayer sign" may help early diagnosis.
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A common way to investigate gene regulatory mechanisms is to identify differentially expressed genes using transcriptomics, find their candidate enhancers using epigenomics, and search for over-represented transcription factor (TF) motifs in these enhancers using bioinformatics tools. A related follow-up task is to model gene expression as a function of enhancer sequences and rank TF motifs by their contribution to such models, thus prioritizing among regulators. We present a new computational tool called SEAMoD that performs the above tasks of motif finding and sequence-to-expression modeling simultaneously.

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Rearrangements within the AUTS2 region are associated with a rare syndromic disorder with intellectual disability, developmental delay, and behavioral abnormalities as core features. In addition, smaller regional variants are linked to wide range of neuropsychiatric disorders, underscoring the gene's essential role in brain development. Like many essential neurodevelopmental genes, AUTS2 is large and complex, generating distinct long (AUTS2-l) and short (AUTS2-s) protein isoforms from alternative promoters.

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