Clinical observation of selective posterior rhizotomy for improving spasticity and gross movement in patients with cerebral palsy / 中国骨伤

OBJECTIVE@#To explore the effect of selective lumbosacral posterior rhizotomy(SPR) on lower limb spasticity and gross motor function in patients with cerebral palsy.@*METHODS@#From January 2018 to October 2018, 47 patients with cerebral palsy were treated with rehabilitation alone and SPR combined with rehabilitation. According to whether SPR was performed, the patients were divided into group A and group B. Group A was treated with rehabilitation combined with SPR at lumbosacral level, and group B was treated with rehabilitation alone. There were 23 cases in group A, including 15 males and 8 females, with an average age of (7.30±3.25) years old; 24 cases in group B, 13 males and 11 females, with an average age of (7.00±3.09) years old. Forty-seven patients were assessed with modified Ashworth(MAS) and Gross Motor Function Scale(GMFM-88 items) before and after treatment. The changes of MAS and GMFM-88 scores before and after treatment were compared to evaluate the degree of spasm and the improvement of gross motor function in the two groups.@*RESULTS@#All 47 patients were followed up. At 6 months after treatment, the MAS classification of the two groups was significantly improved(<0.05), and the improvement of group A was more obvious than that of group B(<0.05). Six months after treatment, the D, E and total scores of GMFM-88 between two groups were significantly improved compared with those before operation(<0.05). The improvement of D and total scores in group A was more obvious than that in group B. There was no significant difference in the improvement of area E between two groups.@*CONCLUSIONS@#Selective posterior rhizotomy combined with rehabilitation can significantly improve the spastic state and gross motor function of lower limbs in children with cerebral palsy, and can effectively promote the reconstruction and recovery of motor function of lower limbs in children with cerebral palsy.

Genetic analysis of a Chinese Han family with multiple endocrine neoplasia type 2A.

Multiple endocrine neoplasia type 2 (MEN2) is an autosomal dominant disorder that can be distinguished as three different syndromes: multiple endocrine neoplasia type 2A (MEN2A), MEN2B and familial medullary thyroid carcinoma (FMTC). This disorder is usually caused by the mutations of the rearranged during transfection protooncogene gene (RET) or the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1). To investigate the genetic cause in a Chinese Han family with MEN2A and the genotype-phenotype correlations, nine members belonging to 3 generations of MEN2A family with 5 affected subjects underwent genetic analysis. Standard GTG-banded karyotype analysis and sequencing of the RET and NTRK1 genes were performed to identify the genetic cause of this family. A heterozygous mutation p.Cys634Arg in the RET gene was identified in 5 patients with MEN2A and one asymptomatic family member. The phenotype of patients was that of classic MEN2A, characterized by medullary thyroid carcinoma and phaeochromocytoma. The clinical features of all cases with RET mutations varied greatly, including onset age of clinical manifestations, severity and comorbidities. Thus, this study not only identified the hereditary nature of the MEN2A in the cases, but also discovered a family member harboring the same p.Cys634Arg mutation, who was unaware of his condition. These finding may provide new insights into the cause and diagnosis of MEN2A and have implications for genetic counseling.