Objective To investigate the functional features of resveratrol on vasodilatation of abdominal aorta in rat and its underlying mechanism. Methods Isolated aortic ring was perfused and the tension of the vessel was measured. Results Resveratrol showed a dose-dependent relaxant effect on rat aorta at 4?10 -9～4?10 -5mol/L. At the concentration of 4?10 -5mol/L, the effect was attenuated by (74.9?1.9)% in the endothelium removal group, and it was significantly different from the control group (P0.05). At the concentration of 7?10 -5mol/L, resveratrol showed an relaxant effect on de-endothelium vessels. Conclusion Resveratrol relaxes the aorta in both endothelium dependent and independent manner. In the endothelium-dependent manner, the mechanism of vasodilatation may be associated with NO system and KATP channel, while in the endothelium-independent manner effect of resveratrol might be a direct one.

Objective To analyze the clinical and electrophysiological features in a family with spinal muscular atrophy (SMA), and assess the probable causative gene mutations for the family. Methods To identify the nosogenesis of the proband with weakness and atrophy in the double lower proximal limbs, clinical data of his 12 family members were collected, and the proband and his mother were selected for clinical examinations, including laboratory tests, electromyogram (EMG), F-wave, H-reflex, X-ray of the spine and double lower limbs, brain and spinal cord magnetic resonance imaging, etc. Moreover, human whole exome sequencing was performed on blood sample from the proband, then its deleterious effects were assessed according to the Standards and guidelines for the interpretation of sequence variants, a joint consensus recommendation of the American College of Medical Genomics (ACMG) and the Association for Molecular Pathology (AMP). Subsequently, the strong pathogenic mutation was validated by Sanger sequencing. Results Familial investigation showed seven of 12 family members presented with weakness in the double lower proximal limbs. Among them, three had the main manifestation of atrophy in the double lower proximal limbs, one had high arched foot as the main presentation, and the others had weakness in the double lower proximal limbs. EMG studies showed the abnormal results in the anterior horn of the spinal cord. The strong pathogenic mutation in DYNC1H1 gene (exon8, c.2327C＞T, p.P776L) was identified from the proband according to ACMG and AMP guidelines. Sanger sequencing revealed six patients had this variant and it was passed mainly from his maternal grandmother. Conclusions A pathogenic mutation of the DYNC1H1 p.P776L in six Chinese pedigrees which cosegregated with SMA was identified. There existed individual differences in clinical presentations. This finding may have important implications for the study of SMA in Chinese patients.