ABSTRACT
OBJECTIVE@#To analyze the clinical and molecular characteristics of a child with very long chain acyl-CoA dehydrogenase deficiency (VLCADD).@*METHODS@#Peripheral blood sample of the patient was collected for the extraction of genomic DNA. Next generation sequencing (NGS) was carried out for the proband. Suspected mutations were validated by Sanger sequencing.@*RESULTS@#The patient, a 12-month-old girl, was admitted for diarrhea, vomiting, fever, poor spirit and decreased blood pressure. During the course of the disease, she also manifested hypertrophic cardiomyopathy, cardiogenic shock, elevated myocardial enzyme kinase, fever and metabolic acidosis, and had died after three days due to ventricular tachycardia and respiratory failure. Genetic testing showed that she has carried heterozygous mutations of of the ACADVL gene, namely c.664G>A (exon 8) and c.1056_1057del (exon 10). Blood screening for metabolic genetic diseases showed increased C12, C14, C16, C18, C14:1, C14:2, C16:1, C4/C3 and C8/C3, accompanied with decreased C0, C0/C16 and C8/C10. VLCADD and secondary carnitine deficiency could not be excluded, which was in keeping with the result of genetic testing.@*CONCLUSION@#The child was diagnosed with VLCADD, which may be attributed to the compound heterozygous c.664G>A and c.1056_1057del variants of the ACADVL gene.
ABSTRACT
The aim of this study is to clarify whether edaravone postconditioning had protective effect against renal ischemia/reperfusion injury and to compare the protective effect between ischemic postconditioning and edaravone postconditioning. Rats were subjected to 45 min ischemia followed by 24 h reperfusion. The rats were randomly assigned to seven groups: a sham-operated control group, an ischemia/reperfusion group, an ischemic postconditioning group, a normal saline vehicle postconditioning group and an edaravone postconditioning (1, 3, and 6 mg x kg(-1)) group. Renal function was assessed by serum creatinine and BUN concentration, while histological damage of renal tissue was assessed with HE staining. MDA content and SOD activity of renal tissue were determined. TUNEL staining was performed to analyze the apoptosis of the tubular epithelial cells, the protein level of Bcl-2 and Bax in renal tissue was examined by Western blotting. Compared to the ischemia/reperfusion group, edaravone postconditioning significantly decreased serum creatinine and BUN concentration, and ameliorated histological damage of renal tissue. MDA was less after 24 h reperfusion in the edaravone postconditioning group than that in the ischemia/reperfusion group, consistent with an increase in SOD activity. In addition, edaravone postconditioning decreased TUNEL-positive cells and Bax expression, and increased Bcl-2 expression. Results detected in the edaravone postconditioning group showed no significant difference from the ischemic postconditioning group. Edaravone administered during the last 3 min of ischemia, prior to reperfusion induces a pharmacological postconditioning in vivo against renal ischemia/reperfusion injury in rats. This protection is similar to that observed with ischemic postconditioning.
ABSTRACT
OBJECTIVE:To establish a HPLC-fluorescence detection method for the determiniation of the serum concentration of metoprolol.METHODS:The determination was performed on Symmetry C18 column,and the mobile phase consisted of acetonitrile-water-triethylamine -phosphoric acid(110∶390∶2.5∶1.6) at a flow rate of 0.8 mL?min-1.The excitation wavelength was 265 nm and the emission wavelength 298 nm,and the sample size was 20 ?L.RESULTS:Good linearity was obtained for metoprolol over the range of 2.0～100.0 ?g?L-1 with correlation coefficient r=0.999 6.At low,medium and high concentrations,the average recoveries of metoprolol were 99.73%,98.21% and 99.38%,respectively.The intra-day RSD were 2.89%,2.36% and 1.32%,respectively,and the inter-day RSD were 3.73%,3.03% and 2.25% respectively.The lowest detectable limit was 1.0 ?g?L-1.CONCLUSION:This method is precise,accurate,specific,simple yet with high recovery,and it is applicable for clinical monitoring of blood concentration and pharmacokinetic study.
ABSTRACT
Aim To investigate the effects of ginaton on tubular cell apoptosis in a rat model of renal ischemia/reperfusion(I/R) injury.Methods The model of bilateral post-ischemic renal injury was established by clamping renal pedicles for 45 minutes.To explore the effects of ginaton on activation and expression of JNK and c-Jun,p-JNK1/2,JNK,p-c-Jun,c-Jun were examined by Western blotting.Apoptosis of renal tubular epithelial cells was assessed by terminal deoxynucleotidyl transferase mediated dUTPnick end labeling(TUNEL) and flow cytometric analysis.Results Phosphorylation levels of the JNK and the c-Jun were significantly increased at 20 min after renal I/R injury.This corresponds to a significant increase of apoptotic tubular cells induced by renal I/R injury.Ginaton attenuated the increased phosphorylation of p-JUK at 20 min(vs I/R 20 min,P
ABSTRACT
AIM To investigate the effects of melatonin (MT) on glutathione peroxidase(GPx), superoxide dismutase(SOD) activities and malondialdehyde(MDA) contents in the cerebrum of cerebral ischemia-reperfusion gerbils, so as to explore the protective mechanisms of MT. METHODS Cerebral ischemia-reperfusion model was made by 10 min occlusion of bilateral carotid arteries of gerbil. MT was administered intraperitoneally 30 min prior to the onset of ischemia. After 1 h reperfusion, bilateral cortex and striatum were taken out for measurement of GPx, SOD and MDA. RESULTS Ischemia-reperfusion lowered the activities of GPx and SOD in cerebral cortex and striatum. Conversely, it elevated the contents of MDA in both areas. Treatment with MT at 5, 10, or 20 mg?kg -1 partly reversed these effects. CONCLUSION MT provides protective effect against cerebral ischemia-reperfusion injury by protecting GPx and SOD activities and reducing the lipid peroxidation.
ABSTRACT
Objective To observe the influence of polysaccharide from spirulina platensis(PSP) on human embryo lung diploid fibroblastic DNA damage and repair after UV irradiation. Methods After UV irradiation for 30min, the single cell gel electrophoresis(SCGE) was used to investigate the level of DNA damage, the level of DNA damage and repair at 30, 60, 90min were also investigated by SCGE respectively. Results The level of DNA damage induced by UV irradiation was prevented by PSP, and it also promote DNA repair capacity. Conclusion PSP can increase the activity of DNA endonuclease and DNA ligase in dose-de- pendrntly.