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Chinese Journal of Trauma ; (12): 85-92, 2021.
Article in Chinese | WPRIM | ID: wpr-909837


Spinal cord injury is a common clinical disease secondary to spinal cord fractures that causes patients with motor and sensory dysfunction or even paralysis. In recent years, exosomes have participated in the occurrence and development of various diseases as nanometer-sized cell particles, and have received extensive attention. Exosomes derived from spinal cord tissue cells during spinal cord injury affect the injury process and tissue repair. In addition, exosomes as a new treatment for spinal cord injury have been widely studied. The authors document the mechanisms of various exosomes from spinal cord tissue and the repair effects of various cell-derived exosomes in spinal cord injury, in order to deepen the understanding of the role of exosomes in spinal cord injury and provide new ideas for studying the course and treatment of spinal cord injury.

Article in Chinese | WPRIM | ID: wpr-827757


OBJECTIVE@#To carry out genetic and metabolite analysis for an infant with cerebral creatine deficiency syndrome type 2 (CCDS2).@*METHODS@#Clinical data of the child was collected. Whole-exome sequencing was carried out to identify potential variants by next generation sequencing. Candidate variants were confirmed by Sanger sequencing. Metabolites were determined by tandem mass spectrometry and magnetic resonance spectroscopy. Treatment was carried out following the diagnosis and genetic counseling for the affected family.@*RESULTS@#Two novel heterozygous variants (c.289delC and c.392-1G>C) of the GAMT gene were identified in the proband, which were respectively inherited from her father and mother. In silico analysis suggested both variants to be pathogenic. Creatine (Cr) level of the child was very low, and cerebral guanidinoacetate (GAA) level was slightly increased. But both had recovered to normal in two weeks, and cerebral Cr level was significantly improved after two months. Intellectual and motor development of the child were significantly improved.@*CONCLUSION@#The child was diagnosed with CCDS type 2, for which pathogenic variants of the GAMT gene may be accountable. Treatment has attained a satisfactory effect for the patient.