Clinical guideline for spinal reconstruction of osteoporotic thoracolumbar fracture in elderly patients (version 2022) / 中华创伤杂志

Osteoporotic thoracolumbar fracture in the elderly will seriously reduce their quality of life and life expectancy. For osteoporotic thoracolumbar fracture in the elderly, spinal reconstruction is necessary, which should comprehensively consider factors such as the physical condition, fracture type, clinical characteristics and osteoporosis degree. While there lacks relevant clinical norms or guidelines on selection of spinal reconstruction strategies. In order to standardize the concept of spinal reconstruction for osteoporotic thoracolumbar fracture in the elderly, based on the principles of scientificity, practicality and progressiveness, the authors formulated the Clinical guideline for spinal reconstruction of osteoporotic thoracolumbar fracture in elderly patients ( version 2022), in which suggestions based on evidence of evidence-based medicine were put forward upon 10 important issues related to the fracture classification, non-operative treatment strategies and surgical treatment strategies in spinal reconstruction after osteoporosis thoracolumbar fracture in the elderly, hoping to provide a reference for clinical treatment.

Research progress in exosomes in repair of spinal cord injury / 中华创伤杂志

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.

Genetic analysis and treatment for an infant with cerebral creatine deficiency syndrome type 2 / 中华医学遗传学杂志

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.