Publications by authors named "A K Bruzek"

Objective: Compared with postnatal repair, prenatal myelomeningocele (MMC) repair is associated with improved motor function and decreased need for cerebrospinal fluid (CSF) diversion. It is unknown how prenatal surgery alters neuroanatomical structures identifiable on magnetic resonance imaging (MRI). The purpose of this study was to use MRI to compare neurodevelopmental anatomy in patients undergoing fetal MMC repair compared with those undergoing postnatal repair.

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Molecular markers are essential for cancer diagnosis, clinical trial enrollment, and some surgical decision making, motivating ultra-rapid, intraoperative variant detection. Sequencing-based detection is considered the gold standard approach, but typically takes hours to perform due to time-consuming DNA extraction, targeted amplification, and library preparation times. In this work, we present a proof-of-principle approach for sub-1 hour targeted variant detection using real-time DNA sequencers.

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Article Synopsis
  • Diffuse Midline Glioma (DMG) with the H3K27M mutation is a highly fatal childhood brain cancer, with a grim prognosis where most patients don't survive beyond 2 years post-diagnosis.
  • A Phase 1 clinical trial was conducted on children with this type of glioma using the drug ONC201, focusing on analyzing tumor DNA from cerebrospinal fluid (CSF) and plasma to track changes in tumor status.
  • The study found that a decrease in H3.3K27M variant allele fraction (VAF) in CSF correlated with longer progression-free survival, indicating that monitoring cf-tDNA levels could effectively predict tumor progression and treatment responses, helping to distinguish between true progression and
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The poly(ADP-ribose) binding protein CHFR regulates cellular responses to mitotic stress. The deubiquitinase UBC13, which regulates CHFR levels, has been associated with better overall survival in paclitaxel-treated ovarian cancer. Despite the extensive use of taxanes in the treatment of ovarian cancer, little is known about expression of CHFR itself in this disease.

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