J Formos Med Assoc
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Hereditary neuromuscular diseases (NMDs) are a group of rare disorders, and the diagnosis of these diseases is a substantial burden for referral centers. Although next-generation sequencing (NGS) has identified a large number of genes associated with hereditary NMDs, the diagnostic rates still vary across centers. ⋯ The application of NGS in this single-center study proves the great diversity of hereditary NMDs. A capture panel is essential, but high-quality clinical and laboratory evaluations of patients are also indispensable.
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The combination of bevacizumab and atezolizumab has been established as a standard first-line systemic treatment for unresectable hepatocellular carcinoma (HCC). We examined the treatment outcomes of patients in Taiwan who received the combination in 2 pivotal clinical trials. ⋯ In Taiwanese patients with advanced HCC, the efficacy and safety outcomes of bevacizumab and atezolizumab treatment were generally consistent with the global intent-to-treat populations.
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Alanine aminotransferase (ALT) is a cost-effective screening test for asymptomatic liver diseases. The aims of this study are to redefine the ULNs of ALT using the 2010-2012 Nutrition and Health Survey in Taiwan (NAHSIT) database and to determine whether the updated ULNs can better screen for metabolic dysfunction-associated fatty liver disease (MAFLD) in obese children. ⋯ After taking into account MAFLD-related metabolic risk factors, the ULNs of ALT are 23 IU/L for boys and 18 IU/L for girls in Taiwan. The updated ULNs may be better cutoffs for screening MAFLD in obese children.
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Recent emerging evidence indicates that dysfunction of metabolic remodeling underlies aberrant T cell immune responses in systemic lupus erythematosus (SLE). This study was undertaken to investigate the expression of HIF-1α, a regulator of metabolic reprogramming, in T cells from SLE. ⋯ HIF-1α expression is increased in T cells from SLE patients, and is positively correlated with glycolysis- and Th17- associated pathway, implicating HIF-1α contributes to the activation of Th17 cells in SLE, and represents a potential novel therapeutic target.