RESUMO
Objective To investigate the cognitive, intelligent and cranial MRI status of 4 patients with myotonic dystrophy type 1 (DM1). Methods A pedigree of 4 patients,admitted to our hospital from September 2011 to December 2011 and diagnosed as having DM1, were chosen in our study; Chinese edition tests of Wechsler adult intelligence scale and Wechsler memory scale were used to test the intelligence of these patients; Montreal cognitive assessment (MoCA) and Neurobehavioral cognitive status examination (NCSE) were applied to evaluate the patients' cognitive function.All of the 4 patients received a cranial MRI scan. Results Except for 1 patient,the other 3 patients had low intelligent quotient (IQ) and memory quotient (MQ),and their verbal IQs were all lower than performance IQs.Three patients showed impaired visual space/executive skills,calculation,memory,and conceptual thinking abilities; 1 patient showed impaired sentence repetition and verbal fluency on MoCA,though his final scores were within normal range. Three patients had brain atrophy to some extent on MRI scan,prominently in the frontal lobe and temporal lobe; white matter lesions and thickened skull were founded in all 4 patients. Conclusion Multiple cognition disorders and brain involvements can be found in DM1 patients and deserve further investigation.
RESUMO
To construct the secretive prokaryotic shuttle expression plasmid pBCG-SP-HSP65, the signal peptide sequence of antigen 85B amplified from Bacillus Calmette-guérin (BCG) genome by PCR and the whole HSP65 DNA sequence of human M. tuberculosis obtained from the plasmid pCMV-MTHSP65 by PCR were cloned into the plasmid pBCG-2100 under the control of the promoter of Heat Shock Protein 70 (HSP70) from human M. tuberculosis. Recombinants were electroporated into Mycobacterial smegmatis and induced by heating. Results of the induced expression were detected by SDS-PAGE and the biological activity of the expressed protein was tested by Western-blot analysis. Results showed pBCG-SP-MTHSP65 was constructed successfully and confirmed by restriction endonuclease analysis, PCR detection and DNA sequencing analysis. After it was electroporated into Mycobacterial smegmatis and induced by heating, the percentage of expressed 65kD protein in Mycobacterial smegmatis detected by SDS-PAGE was 20% in total bacterial protein. But the percentage of expressed 65kD protein in recombibinant Mycobacterial smegmatis was up to 34.46% in total bacterial protein and 68.56% in the total protein of cell lysate supernants, Which demonstrated the recombinant HSP65 gene could express in recombinant with high efficiency and the expressed proteins were mainly soluble. Western-blot showed that the secretive proteins could specially combine with antibody against human M. tuberculosis HSP65. Orally, pBCG-SP-HSP65 was successfully constructed; HSP65 gene could express in Mycobacterial smegmatis with high efficiency via it. And the expressed proteins possess the biological activity. So it provids experimental evidence for the application of the recombinant Mycobacterial smegmatis and the development of the vaccine against tuberculosis.