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[This retracts the article DOI: 10.3892/ol.2020.11296.].
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BACKGROUND: Thoracic aortic aneurysm or dissections (TAADs) represent a group of life-threatening diseases. Genetic aetiology can affect the age of onset, clinical phenotype, and timing of intervention. We conducted a prospective trial to determine the prevalence of pathogenic variants in TAAD patients and to elucidate the traits related to harbouring the pathogenic variants. One hundred and one unrelated TAAD patients underwent genetic sequencing and analysis for 23 TAAD-associated genes using a targeted PCR and next-generation sequencing-based panel. RESULTS: A total of 47 variants were identified in 52 TAAD patients (51.5%), including 5 pathogenic, 1 likely pathogenic and 41 variants of uncertain significance. The pathogenic or likely pathogenic (P/LP) variants in 4 disease-causing genes were carried by 1 patient with familial and 5 patients with sporadic TAAD (5.9%). In addition to harbouring one variant causing familial TAAD, the FBN1 gene harboured half of the P/LP variants causing sporadic TAAD. Individuals with an age of onset less than 50 years or normotension had a significantly increased genetic risk. CONCLUSIONS: TAAD patients with a younger age at diagnosis or normotension were more likely to carry a P/LP variant; thus, routine genetic testing will be beneficial to a better prognosis through genetically personalized care prior to acute rupture or dissection.
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Aneurisma da Aorta Torácica , Dissecção Aórtica , Humanos , Estudos Prospectivos , Aneurisma da Aorta Torácica/genética , Dissecção Aórtica/genética , ChinaRESUMO
MicroRNA (miRNAs) serve key roles in the progress of various types of cancer. The expression of miRNA (miR)-139-5p is downregulated in several types of tumor and has been recognized as a tumor suppressor. However, the role of miR-139-5p in non-small cell lung cancer (NSCLC) has not been investigated in detail. In the present study, it was demonstrated that miR-139-5p was significantly downregulated in NSCLC cells and tissues, and the overexpression of miR-139-5p in vitro induced apoptosis and significantly inhibited the viability and proliferation of A549 and H1299 cells. In addition, upregulation of miR-139-5p significantly inhibited the migration and invasion of A549 and H1299 cells. Hepatoma-derived growth factor (HDGF) was identified as a direct target of miR-139-5p. Rescue experiments demonstrated that the inhibitory function of miR-139-5p on cell viability, migration and invasion was partially mediated by suppressing HDGF expression. Furthermore, miR-139-5p exhibited efficient inhibition of tumor growth in a xenograft tumor mouse model of A549 cells. In summary, the results from the present study suggested that miR-139-5p may serve an important role in NSCLC by targeting HDGF and causing inhibition of cell viability and metastasis, as well as induction of apoptosis. miR-139-5p may also have the potential to serve as a therapeutic target for the treatment of NSCLC.
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In this paper, we introduce a novel concept of liquid-actuated aspheric lens (LAL) with a built-in aspheric polydimethylsiloxane lens (APL) to enable the design of compact optical systems with varifocal microscopic imaging. The varifocal lens module consists of a sandwiched structures such as 3d printed syringe pump functionally serves as liquid controller. Other key components include two acrylic cylinders, a rigid separator, a APL/membrane composite (APLMC) embedded PDMS membrane. In functional operation, the fluidic controller was driven to control the pressure difference and ALPMC deformation. The focal length can be changed through the pressure difference. This is achieved by the adjustment of volume change of injected liquid such that a widely tunable focal length. The proposed LAL can transform to 3 modes: microscopic mode (APLMC only), convex-concave mode and biconcave mode. It is noticeable that LAL in the operation of microscopic mode is tunable in focus via the actuation of APLMC (focal length is from 4.3 to 2.3 mm and magnification 50X) and can rival the images quality of commercial microscopes. A new lab-on-phone device is economically feasible and functionally versatile to offer a great potential in the point of care applications.