IEEE J Biomed Health Inform
October 2024
Dark-field (DF) optical microscopy, combined with optical simulation based on modal diffraction theory for transverse electric polarized white light, is shown to provide non-invasive, sub-wavelength geometrical information for nanoscale etched device structures. Room temperature (RT) single electron transistors (SETs) in silicon, defined using etched ∼10 nm point-contacts (PCs) and in-plane side gates, are investigated to enable fabrication fault detection. Devices are inspected using scanning electron microscopy, bright-field (BF) and DF imaging.
View Article and Find Full Text PDFBackground/purpose: Neonatal screening using tandem mass spectrometry (MS/MS) started in Taiwan in 2000. We evaluated the efficacy of this system by analyzing the frequency of diseases and the outcome of the patients identified.
Methods: Between August 2001 and July 2004, 199, 922 neonates were screened for 10 amino acids and acylcarnitines using MS/MS in a single center.
Carbohydrate deficient glycoprotein syndromes (CDG) are inherited multisystem disorders characterized by the abnormal glycosylation of a number of serum glycoproteins. CDG-Ia results from deficiency of phosphomannomutase that catalyzes the conversion of mannose-6-phosphate to mannose-1-phosphate in the cytosol. We report a case of CDG-Ia in an 11-month-old girl with developmental delay, failure to thrive, inverted nipples and abnormal fat pads.
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