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Liu Y.,Huazhong University of Science and Technology | Guo J.,Xinhua Hospital of Hubei | Zhao R.-F.,Huazhong University of Science and Technology | Wang L.,Huazhong University of Science and Technology
Chinese Medical Journal | Year: 2012

Congenital rubella syndrome is characterized by the triad of deafness, cataract and cardiovascular malformations. The great majority of the cases in the literature have been usually diagnosed in infancy and childhood because of various defects at birth. However, we report a rare case of suspected congenital rubella syndrome in an adult with unilateral pulmonary artery stenosis and late-onset cataract.

Wang Z.-H.,Wuhan University of Science and Technology | Zhao Z.-J.,Henan University | Xu K.,Xinhua Hospital of Hubei | Sun G.-B.,Xinhua Hospital of Hubei | And 3 more authors.
Molecular Medicine Reports | Year: 2015

Hereditary protein S (PS) deficiency is an independent risk factor for venous thromboembolism. However, the correlation between PS and arterial thrombotic disease, such as cerebral thrombosis, is not clear. The present study focused on the molecular mechanisms underlying ischemic stroke caused by a PS gene mutation in one family. The activity of antithrombin, protein C and PS in the plasma of the proband was measured, and the genes encoding PS were amplified and sequenced. The cellular localization and expression of PS were analyzed in HEK-293 cells. The proband was a 50-year-old male. Plasma PS activity of the proband was 38.9%, which was significantly decreased compared with normal levels. Sequencing analysis revealed a PROS1 c-1486-1490delGATTA mutation on exon 12. This frameshift mutation converts Asp496 in the precursor PS into the termination codon. In addition, the PROS1 mutation was correlated with low PS activity in the family. Functional tests revealed that the mutant protein aggregated in the cytoplasm and its secretion and expression decreased. In conclusion, protein S mutation appeared to be the primary cause of thrombosis in the family of the present study. However, the correlation between PS deficiency and ischemic stroke requires further investigation.

Wang X.,Xinhua Hospital of Hubei | Liu J.,Xinhua Hospital of Hubei | Jin N.,Xinhua Hospital of Hubei | Xu D.,Xinhua Hospital of Hubei | And 3 more authors.
Experimental and Therapeutic Medicine | Year: 2015

Fructus Corni (Cornus officinalis Sieb. et Zucc.) is commonly prescribed as a traditional Chinese herbal medicine that possesses pharmacological actions against inflammation, diabetic nephropathy, tumors, oxidation and aging. However, its function and mode of action within the nervous system remain largely unclear. In this study, the effects of Fructus Corni extract (FCE) on neuronal differentiation were investigated. It was found that FCE significantly increased the percentage of PC12 cells bearing neurites (P<0.001). Following the generation of neurite outgrowth, FCE treatment decreased the mRNA expression of stromal interaction molecule 1 (STIM1; P<0.05) and suppressed the expression of STIM1 protein (P<0.001). In addition, extracellular calcium (Ca2+) influx was inhibited resulting in a reduction in the intracellular Ca2+ level, suggesting that the inhibition of Ca2+ influx may be involved in the FCE-promoted neurite outgrowth of PC12 cells. These results demonstrate that FCE induces neurite outgrowth in PC12 cells and that this is associated with the suppression of STIM1 expression and the inhibition of Ca2+ influx, which may partially explain the FCE-induced neuritogenesis. © 2015 Spandidos Publications. All rights reserved.

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