Clinical and genetic variation analysis of 97 patients with Duchenne muscular dystrophy / 中国实用儿科杂志

OBJECTIVE:(DMD),summarize the gene mutation hotspots in 97 cases and to explore the correlation between clinical manifestations and genotype. METHODS: Totally 97 patients with DMD diagnosed by genetic examination from January 2014 to 2018 were collected and analyzed. The clinical manifestations,serum analyses and gene mutation results were analyzed. RESULTS: The main clinical manifestations of 97 patients(96 boys)were feeding difficulties,increased muscle enzyme and limb weakness.Creatine kinase(CK),lactate dehydrogenase(LDH)and aspartate aminotransferase(AST)muscle enzymes were significantly increased. By combining deep-sequencing technologies,the large deletions of DMD gene mutation was in 62 cases(63.92%);there were 11 cases(11.34%)of large duplication mutation,and 24 cases(24.74%)of point mutation. All of the mutations could occur in any position in the DMD gene,but there were two hot spots;45 cases were located in the central region gene exon 45～55(72.58%);12 cases of deletion mutation were located in 5'exon end exon 2～19 area(19.35%). CONCLUSION: The main clinical manifestations of the DMD children are feeding difficulty,increased muscle enzyme and limb weakness.The patients with significantly increased muscle enzyme should receive a timely defection of DMD gene.

Value of Glasgow-Pittsburgh Coma Scale scoring in childhood coma / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To investigate the value of Glasgow Coma Scale (GCS) and Glasgow-Pittsburgh Coma Scale (GCS-P) scoring in predicting the prognosis of coma in children.</p><p><b>METHODS</b>Clinical data of 17 comatose children were retrospectively reviewed. The results of GCS and GCS-P scoring, electroencephalogram (EEG) and cranial imaging were analyzed. Dynamic curves of GCS-P score were drawn.</p><p><b>RESULTS</b>Seven patients received EEG examination and four showed low potential. The four patients had poor prognosis. Cranial CT and MRI were performed in 12 patients. Of these three showed cerebral hemorrhage and ischemia and had a poor prognosis. The accuracy rate for predicting the prognosis of GCS and GCS-P scoring was 85.71% and 88.57% respectively. A continuous GCS-P scoring was performed in 13 patients. A dynamic GCS-P curve showed an ascent in seven cases with good prognosis but a flat or declined tendency in six cases with poor prognosis.</p><p><b>CONCLUSIONS</b>GCS-P scoring is valuable for predicting prognosis in children with coma. Combined with EEG and cranial imaging examinations, the accuracy for predicting prognosis of GCS-P scoring will increase.</p>