ABSTRACT
A case of late-onset methylmalonic aciduria combined with hyperhomocysteinemia (cblC type) is reported. The main manifestations were the reduction of intelligence,the instability of walking,and the inability to take care of oneself,with secondary cerebral hemorrhage. The effect of treatment was good. MMACHC gene mutation detection showed exon1 deletion, indicating that delExon1 is one of the causes of late onset methylmalonic aciduria, cblC type.
ABSTRACT
Spinal vascular disease is rare in clinic, especially in cases of spinal cord embolism caused by abnormal embolism. It is rare in clinic and has not been reported in China. We report a case of pulmonary embolism complicated with abnormal spinal cord embolism due to lack of protein S activity and analyze its clinical data in order to improve clinical understanding of the disease.
ABSTRACT
Objective To investigate the expression of glutathione S-transferase π (Glutathione S-transferase π, GST-π) protein in peripheral blood and brain of patients with drug-resistant epilepsy and refractory epilepsy rats. Meth?ods From January 2010 to March 2014, the expression of GST-πin the blood and brain of 32 cases of drug-resistant epi?lepsy underwent neurosurgery and 10 cases of cerebral vascular malformation underwent surgery were studied and com?pared. The expression of GST-πin the blood and brain in refractory epilepsy rats and normal rats were studied and com?pared. Results The specimen from 20 temporal, 6 frontal and 6 occipital lobes were obtained from drug-resistant epilep?sy patients. The expression levels of GST-πin the blood and brain in refractory epilepsy rats and normal rats were higher than those of the control groups (P<0.05). Conclusion GST-πmay be involved in the process of drug-resistant epilepsy. The GST-πexpression in blood may be used as a marker for resistance to anti-epileptic agents.