This paper presents progress made toward the overarching goal to adapt single-photon-counting microcalorimeters to magnetic fusion energy research and demonstrate the value of such measurements for fusion. Microcalorimeter spectrometers combine the best characteristics of x-ray instrumentation currently available on fusion devices: high spectral resolution similar to an x-ray crystal spectrometer and broad spectral coverage sufficient to measure impurity species from Be to W. As a proof-of-principle experiment, a NASA-built x-ray microcalorimeter spectrometer has been installed on the Madison Symmetric Torus (MST) at the Wisconsin Plasma Physics Laboratory.
View Article and Find Full Text PDFNiemann-Pick disease, type C1 (NPC1) is an ultra rare, autosomal recessive disorder characterized by impaired intracellular cholesterol trafficking. This study assessed neuron-specific enolase (NSE) as a biomarker for disease status and treatment response in individuals with NPC1. We also evaluated the concordance between serum and cerebrospinal fluid (CSF) NSE measurements.
View Article and Find Full Text PDFSmith-Lemli-Opitz syndrome (SLOS) is a rare autosomal recessive disorder caused by pathological variants in DHCR7, resulting in a deficiency in the enzyme 7-dehydrocholesterol reductase. This results in elevated levels of cholesterol precursors and typically low cholesterol levels, leading to a range of physical and cognitive challenges. Mortality rates in infants with severe SLOS are high, due to congenital malformations.
View Article and Find Full Text PDFSmith-Lemli-Opitz syndrome (SLOS) is a rare, multiple malformation/intellectual disability disorder caused by pathogenic variants of DHCR7. DHCR7 catalyzes the reduction of 7-dehydrocholesterol (7DHC) to cholesterol in the final step of cholesterol biosynthesis. This results in accumulation of 7DHC and a cholesterol deficiency.
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