Publications by authors named "Meng-Na Huang"

Background: Familial hypercholesterolemia (FH) is an inherited disorder mainly marked by increased low-density lipoprotein cholesterol (LDL-C) concentrations and a heightened risk of early-onset arteriosclerotic cardiovascular disease (ASCVD). This study seeks to characterize the genetic spectrum and genotype‒phenotype correlations of FH in Chinese pediatric individuals.

Methods: Data were gathered from individuals diagnosed with FH either clinically or genetically at multiple hospitals across mainland China from January 2016 to June 2024.

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Background: To identify reliable magnetic resonance imaging (MRI) features that can differentiate confluent fibrosis (CF) from infiltrative hepatocellular carcinoma (HCC).

Methods: A retrospective analysis was conducted on Twenty CF patients and 28 infiltrative HCC patients who underwent upper abdomen MRI scans. The imaging features of lesions were analyzed, and the apparent diffusion coefficient (ADC) of lesions were measured.

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Article Synopsis
  • The study aimed to improve detection and management of sitosterolemia in Chinese children by analyzing their physical traits and genetic factors.
  • Out of 26 diagnosed children, the most common symptoms were xanthomas (73.1%), joint pain (26.9%), and stunted growth (15.4%), with significant genetic findings linking ABCG5 and ABCG8 variants to the condition.
  • Results showed that dietary changes and ezetimibe treatment notably reduced cholesterol levels, emphasizing the importance of genetic testing and dietary management for effective sitosterolemia control.
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