Publications by authors named "Sunnie Yan-Wai Wong"
Bacteremia in a Surgical Patient: Case Report and Review of the Literature.
Surg Infect (Larchmt)
June 2024
species were first isolated in 1941. Since then, 48 cases of bacteremia have been reported, a majority of which were immunosuppressed patients with central venous catheters.A case is described and previous cases of bacteremia are reviewed.
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- Phosphoglucomutase-1 deficiency (PGM1-CDG) is a type of genetic disorder, and a pilot study was conducted to evaluate the effects of oral D-galactose (D-gal) supplementation on nine patients with this condition.
- The study involved increasing D-gal intake to 1.5 g/kg/day over 18 weeks, monitoring safety and improvements in various health markers; results showed that eight patients had no adverse effects and experienced improvements in liver and coagulation function.
- In vitro tests demonstrated that D-gal treatment helped correct cellular glycosylation issues, improving overall glycoprotein profiles and suggesting that D-gal is a safe and effective treatment for PGM1
Article Synopsis
- - The study aimed to categorize patients with phosphoglucomutase-1 deficiency (PGM1-CDG) into phenotypic groups and identify factors predicting disease severity using the Tulane PGM1-CDG Rating Scale (TPCRS).
- - Researchers evaluated 27 patients, finding a significant difference in TPCRS scores across the phenotypic groups, but no correlation between genotype, enzyme activity, and the TPCRS score.
- - They identified five key clinical features—congenital malformation, cardiac involvement, endocrine deficiency, myopathy, and growth—that can predict disease severity, with some assessable through physical examination for quicker diagnosis and treatment.
Nonhomologous end-joining (NHEJ) is the primary DNA repair pathway thought to underlie chromosomal translocations and other genomic rearrangements in somatic cells. The canonical NHEJ pathway, including DNA ligase IV (Lig4), suppresses genomic instability and chromosomal translocations, leading to the notion that a poorly defined, alternative NHEJ (alt-NHEJ) pathway generates these rearrangements. Here, we investigate the DNA ligase requirement of chromosomal translocation formation in mouse cells.
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