Intractable & Rare Diseases Research
Online ISSN : 2186-361X
Print ISSN : 2186-3644
ISSN-L : 2186-3644
Advance online publication
Displaying 1-3 of 3 articles from this issue
  • Xu Jing Qian, Safwat Girgis, Mitchell P. Wilson, Gavin Low
    Article type: letter
    Article ID: 2024.01045
    Published: 2024
    Advance online publication: December 21, 2024
    JOURNAL FREE ACCESS ADVANCE PUBLICATION

    Primary hepatic angiosarcoma (PHA) is a rare hepatic mesenchymal tumor that accounts for 2% of all primary malignant liver tumors. It typically presents with nonspecific symptoms, is highly aggressive, and there are limited treatment options. Imaging characteristics of PHA overlap with that of hepatic hemangioma, a common benign hepatic lesion, creating a potential diagnostic pitfall. We present a case of PHA that mimicked hepatic hemangioma on imaging. We review the differentiating characteristics between these two hepatic tumors. PHAs demonstrate irregular/infiltrating margins, higher lesion multiplicity, higher risk of tumor rupture, and rapid growth, which are not typically seen with hepatic hemangiomas.

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  • Juan Cao, Yingying Xiao, Haifa Hong, Zhongzhong Chen, Wenjun Qin
    Article type: research-article
    Article ID: 2024.01063
    Published: 2024
    Advance online publication: December 13, 2024
    JOURNAL FREE ACCESS ADVANCE PUBLICATION

    Right ventricular volume overload (RVVO) is a common hemodynamic abnormality in patients with congenital heart disease (CHD) and frequently leads to pathological cardiac remodeling. Our previous research demonstrated that RVVO disrupts the metabolic maturation of cardiomyocytes. Mitochondrial metabolic maturation, a crucial process in postnatal cardiomyocyte development, remains poorly understood under RVVO conditions. In this study, an mouse RVVO model was established on postnatal day 7 by creating a fistula between the abdominal aorta and inferior vena cava, confirmed by abdominal ultrasound and echocardiography. Transcriptomic analyses revealed significant downregulation of genes linked to mitochondrial metabolic maturation. Transmission electron microscopy showed impaired mitochondrial structure and maturation markers, while Seahorse assays demonstrated a marked reduction in oxidative phosphorylation rates in RVVO cardiomyocytes. These findings collectively indicated that RVVO restricted mitochondrial metabolic maturation in the postnatal RV. Targeting mitochondrial metabolic maturation could offer a promising therapeutic strategy to mitigate RVVO-induced pathological remodeling.

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  • Yinbiao Cao, Shichun Lu, Haowen Tang
    Article type: research-article
    Article ID: 2024.01051
    Published: 2024
    Advance online publication: November 23, 2024
    JOURNAL FREE ACCESS ADVANCE PUBLICATION

    Intrahepatic bile duct stone disease has a high morbidity in China, with a high rate of additional surgery, a high rate of cancer development, and a high disease burden. Activation of the MAPK pathway leading to up-regulation of MUC5AC expression is an important factor in the formation of intrahepatic bile duct stones. Exosomes or extracellular vesicles (EVs) can be used as therapeutic vectors to encapsulate and carry drugs into diseased cells to achieve a therapeutic effect. The current study alleviated intrahepatic bile duct stone disease by preparing EVs carrying miR-141-3p. First, the researchers loaded mesenchymal stem cell (ESC)-derived EVs with miR-141-3p (miR-141-3p-EVs) and verified the phenotypes and characteristics of miR-141-3p-EVs. miR-141-3p-EVs successfully reduced the inflammatory level of human biliary epithelial cells (HIBEC) and lowered, via the MAPK pathway, MUC5AC expression. In an experiment involving an animal model of intrahepatic bile duct stones, miR-141-3p-EVs effectively alleviated stone formation, and the intrinsic mechanism was associated with the decreased level of MAPK pathway expression. In conclusion, results suggested that the EV-based strategy of miR-141-3p delivery to intrahepatic bile duct epithelial cells has value and provides a new approach for the treatment of intrahepatic biliary stone disease.

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