Acute promyelocytic leukemia (APL) accounts for approximately 10-15% of newly diagnosed acute myeloid leukemia cases and presents with coagulopathy and bleeding. Prompt diagnosis and treatment are required to minimize early mortality in APL as initiation of all-trans retinoic acid therapy rapidly reverses coagulopathy. The fusion is a hallmark of APL and its rapid identification is essential for rapid initiation of specific treatment to prevent early deaths from coagulopathy and bleeding and optimize patient outcomes.
View Article and Find Full Text PDFDetecting somatic structural variants (SVs), copy number variants (CNVs), and mutations in bone and soft tissue tumors is essential for accurately diagnosing, treating, and prognosticating outcomes. Optical genome mapping (OGM) holds promise to yield useful data on SVs and CNVs but requires fresh or snap-frozen tissues. This study aimed to evaluate the clinical utility of data from OGM compared with current standard-of-care cytogenetic testing.
View Article and Find Full Text PDFPurpose: Clinical validation of "BrainLossNet", a deep learning-based method for fast and robust estimation of brain volume loss (BVL) from longitudinal T1-weighted MRI, for the detection of accelerated BVL in multiple sclerosis (MS) and for the discrimination between MS patients with versus without disability progression.
Materials And Methods: A longitudinal normative database of healthy controls (n = 563), two mono-scanner MS cohorts (n = 414, 156) and a mixed-scanner cohort acquired for various indications (n = 216) were included retrospectively. Mean observation period from the baseline (BL) to the last follow-up (FU) MRI scan was 2-3 years.