Mol Genet Metab Rep
September 2024
Schwannomatosis (SWN) is a rare genetic condition characterized by the risk of developing multiple benign peripheral nerve sheath tumors; however, the risk of developing malignant tumors in patients with SWN remains unclear. This study described the case of a 57-year-old Japanese man diagnosed with SWN whose older brother also had SWN. Whole-exome sequencing identified a heterozygous mutation [c.
View Article and Find Full Text PDFAqueous formic acid dehydrogenation (FAD) is a crucial process for hydrogen production, as hydrogen is a clean energy carrier. During this process, formic acid converts into hydrogen and carbon dioxide over a catalyst. Pd-based catalysts have exhibited significant potential in FAD due to their high activity and selectivity.
View Article and Find Full Text PDFThe G protein-coupled receptor 84 (GPR84), a medium-chain fatty acid receptor, has garnered attention because of its potential involvement in a range of metabolic conditions. However, the precise mechanisms underlying this effect remain elusive. Our study has shed light on the pivotal role of GPR84, revealing its robust expression and functional significance within brown adipose tissue (BAT).
View Article and Find Full Text PDFDiaphragmatic hernia with bowel strangulation is a fatal condition requiring a prompt diagnosis. Bochdalek hernia is a common type of diaphragmatic hernia that rarely but occasionally occurs in adults. We herein report a case of Bochdalek hernia causing sigmoid colon strangulation in an elderly patient whose condition was initially misdiagnosed as empyema.
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