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Dyskeratosis congenita (DC) is a heterogeneous inherited bone marrow failure and cancer predisposition syndrome in which germline mutations in telomere biology genes account for approximately one-half of known families. Hoyeraal Hreidarsson syndrome (HH) is a clinically severe variant of DC in which patients also have cerebellar hypoplasia and may present(More)
The effect of three electrical stimulation (ES) frequencies (10, 35, and 50 Hz) on two muscle groups with different proportions of fast and slow twitch fibers (abductor pollicis brevis (APB) and vastus lateralis (VL)) was explored. We evaluated the acute muscles' responses individually and during hybrid activations (ES superimposed by voluntary(More)
BACKGROUND Genome-wide association studies have identified multiple single-nucleotide polymorphsims (SNPs) associated with prostate cancer (PCa). Although these SNPs have been clearly associated with disease risk, their relationship with clinical outcomes is less clear. Our aim was to assess the frequency of known PCa susceptibility alleles within a single(More)
The purpose of this study was to optimize the configuration of a photoacoustic endoscope (PAE) for prostate cancer detection and therapy monitoring. The placement of optical fiber bundles and ultrasound detectors was chosen to maximize the photoacoustic imaging penetration depth. We performed both theoretical calculations and simulations of this optimized(More)
We tested for germline variants showing association to colon cancer metastasis using a genome-wide association study that compared Ashkenazi Jewish individuals with stage IV metastatic colon cancers versus those with stage I or II non-metastatic colon cancers. In a two-stage study design, we demonstrated significant association to developing metastatic(More)
Motivation: The key advantage of scoring functions based on the Delaunay tessellation (DT) of proteins used for fold recognition and mutagenesis is the use of higher order contact terms (four rather than two). The use of lower order contacts along with four-body terms could improve the accuracy of such scoring functions. Analysis of surface exposure of the(More)
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