A 75-year-old female presented with fasting hypoglycemic episodes. A supervised fast ended at 72 hours fulfilling Whipple triad, with suppressed insulin and C-peptide levels, but discordantly suppressed serum β-hydroxybutyrate levels. After 21 months of recurring symptoms, a repeat fast ended at 48 hours with Whipple triad, suppressed serum β-hydroxybutyrate level, and borderline nonsuppressed C-peptide level, suggesting endogenous hyperinsulinism.
View Article and Find Full Text PDFUnlabelled: Accurate estimation of the Lung Shunt Fraction (LSF) is a standard of care in yttrium-90 ( Y) radioembolization treatment planning to prevent excessive lung irradiation due to arterio-venous shunting in the liver. LSF is assessed using Tc macroaggregated albumin ( Tc-MAA) imaging, but this approach adds risk, complexity, and expense to the treatment planning. This study investigates the potential of Contrast-Enhanced Computed Tomography (CECT) as a non-invasive alternative for LSF estimation.
View Article and Find Full Text PDFBackground: The success of a restoration largely depends on the quality of its fit. This study aimed to investigate the fit quality of monolithic zirconia veneers (MZVs) produced through traditional and digital workflows.
Methods: A typodont maxillary right central incisor was prepared.
Mol Genet Metab Rep
December 2024
Introduction: Carnitine Palmitoyltransferase II (CPT II) deficiency encompasses a spectrum of disorders, with the lethal neonatal form (LNF) representing the rarest and most severe. While there are numerous gene variants that can cause CPT II deficiency, only 16 variants of these are known to be associated with LNF. This report presents the case of a neonatal male diagnosed with lethal CPT II deficiency, characterized by the presence of two heterogeneous variants.
View Article and Find Full Text PDFA pyruvate dehydrogenase complex deficiency causes a reduction in adenosine triphosphate production and energy insufficiency, leading to neurological disorders. An abnormal E1-alpha protein originating from the gene with pathogenic variants is unable to communicate with E1-beta for the formation of the E1 enzyme, decreasing pyruvate dehydrogenase complex activity. In this study, we report a Vietnamese boy with lethargy, severe metabolic acidosis, increased serum lactate, hyperalaninemia, lactic acidosis, and globus pallidus lesions.
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