Objective To apply karyotype analysis/genetic testing in children suspected with hereditary disease. Methods From July, 2014 to July, 2016, a total of 47 cases in our department were tested using G-banding karyotype analysis or selected the relevant genetic package, for screening the related diseases. Results 38 cases received karyotype analysis, in which three cases were abnormal, and one case was diagnosed definitely. And nine cases received related genetic testing, in which seven cases were abnormal, and four cases were diag-nosed definitely. Totally, the positive rate was 21.28%, and the diagnosis rate was 10.64%. Conclusion Karyotype analysis/genetic testing is an etiological diagnosis method for highly suspected hereditary disease in children.

Objective To observe the effect of acupuncture on motor function of children with spastic cerebral palsy. Methods 66 children with spastic cerebral palsy were randomly divided into control group (n=33) and observation group (n=33). They were evaluated with Gross Motor Function Measure (GMFM) before and after treatment. Results The scores of GMFM improved significantly in both groups after treatment (P<0.001), and improved more in the observation group than in the control group (P<0.05). Conclusion Acupuncture combined with rehabilitation training can further improve the motor function of children with spastic cerebral palsy.

Objective To analyze the effect of Botulinum toxin-A (BTX-A) block on the upper extremity spasticity in children with cerebral palsy. Methods From January 2004~December 2011, 47 children with spastic hemiplegic cerebral palsy were divided into control group (n=25) and experimental group (n=22). The control group was administered by occupational therapy. The experimental group was treated by BTX-A block in addition. The dose of BTX-A block was identified with the body weight of the child and the Modified Ashworth Scale (MAS). The dose of injection ranged from 30 IU to 110 IU, average (50.7±12.7) IU. Results There was no significant difference between 2 groups in scores of MAS and Simple Test for Evaluating Hand Function (STEF) before treatment (P>0.05). The MAS score reduced in the experimental group 1 month after treatment (P<0.01), and was lower in the experimental group than in the control group (P<0.05). The score of STEF increased in both groups (P<0.05), and it was higher in the experimental group than in the control group (P<0.01). Conclusion The BTX-A block can decline the upper extremity muscle tone in children with cerebral palsy efficiently, and help to improve the upper extremity function.

ObjectiveTo observe the effects of structured intelligence training system on the ability of children with brain injury. Methods100 children with brain injury were divided in the structured intelligence training (SI) group (n=50) and the routine training (R) group. They were assessed with Comprehensive Function Assessment for Disabled Children. ResultsThe scores of Comprehensive Function Assessment for Disabled Children in both groups improved after training, and improved more in SI group than in R group (P＜0.01), especially in the items of cognition, self-management and social adaptation (P＜0.05). ConclusionThe structured intelligence training system may improve the ability of children with brain injury.

Objective To discuss the distance training for medical staff of children's rehabilitation. Methods 15 lessions were carried out using computer software from April, 2013 to November, 2014 in our centre. 7 cooperative hospitals participated the trainings. The implemen-tation effect was surveyed after training. Results 2693 person-times attended the trainings, including 2109 person-times with living distance training and 584 person-times with video distance training. In the following sampling survey, 92.8%staff thought that the distance training was helpful to their work. 98.6%staff thought that the living distance training was better than the video distance training and 88.6%staff thought their rehabilitation level improved after the distance training. Conclusion The distance training of children's rehabilitation has the advantages of economy, convenience and celerity. It has a wide developmental prospect.

BACKGROUND: Previous studies demonstrated that construction of eoexpression plasmid containing multiple genes on the same vector could improve transfection and expression rates.OBJECTIVE: To construct eukaryotic expression plasmid pcDNA3.1 (+)-MUC1 -GM-CSF by human polymorphic epithclial mucin (MUC 1) and granulocyte macrophage colony stimulating factor.(GM-CSF) and to observe expression of recombinant plasmid in COS-7 cells.DESIGN,TIME AND SETTING: Gene recombination design,which was carried out in the Animal Central Laboratory,the Fourth Military University of Chinese PLA from September 2005 to December 2006.MATERIALS: Eukaryotic expression vector pcDNA3.1 (+) was presented by Pro.Taylor-Papadimitriou;pGEM-3zf()-GM-CSF plasmid,COS-7 cells,pUCI 8 vector,and E.coli DH5α were made in the center; female BALB/c mice were provided by Experimental Animal Center of the Fourth Military University of Chinese PLA.METHODS: Signal peptide was synthesized with encoded MUCI gene sections to obtain repeated sequence coneatemer after renaturation.Next,the accepted concatemer was cloned with GM-CSF following enzyme identification and sequencing analysis,and then they were put in eukaryotic expression vector pcDNA3.1(+) to construct eukaryotic coexpression plasmid pcDNA3.1 (+)-MUCI -GM-CSF in order to transform COS-7 cells.MAIN OUTCOME MEASURES: Gene expression was detected by indirect immunofluorescence and enzyme linked immunosorbent assay (ELISA).RESULTS: Enzyme identification and sequencing analysis showed that recombinant plasmid contained a fusion gene encompassing human MUC1 repeated sequence concatemer and GM-CSF; moreover,MUC1 expression was detected in COS-7 cells,while recombinant plasmid could induce the production of anti-GM-CSF antibody.CONCLUSION: The recombination between human MUC1 repeated sequence concatemer and GM-CSF gene successfully constructs eukaryotic coexpression plasmid.

Objective To observe the effect of forearm crutches on motor function of children with spastic cerebral palsy. Methods 60 children with spastic cerebral palsy were divided into observation group (n=30) and control group (n=30). The control group accepted rou-tine rehabilitation, while the observation group were also trained to use forearm crutches. They were assessed with Gross Motor Function Measure-88 (GMFM-88) and Balancer. The way of item 70 of GMFM-88 was used to assess the mobile capability. Results The scores of GMFM-88 significantly improved in both groups after treatment (t>6.002, P<0.001), and improved more in the observation group than in the control group (t=2.317, P<0.05). The whole path length and the circumference area reduced in both groups after treatment (P<0.05), and reduced more in the observation group with the assist of the forearm crutches (P<0.01). The incidence of walking was more in the observa-tion group with the assistant of the forearm crutches (χ2=25.87, P<0.01). Conclusion Forearm crutches assistant can improve the recovery of motor function, balance and walking ability in children with spastic cerebral palsy.

Objective To investigate the long-term effect of Botulinum toxin type A (BTX-A) block on spasticity in cerebral palsy. Methods From June, 2005 to December, 2013, 51 children with spastic cerebral palsy accepted routine rehabilitation with (trial group, n=24) or without (control group, n=27) BTX-A block. They were assessed with modified Ashworth Scale (MAS), Physician Rating Scale (PRS) and Gross Motor Function Measure (GMFM) before treatment, and with PRS and GMFM two years after treatment. Results There was no significant difference between two groups in ages, body mass, and scores of MAS, PRS and GMFM before treatment (t<1.207,χ2=0.076, P>0.05). The scores of PRS and GMFM improved in both groups two years after treatment (t>2.217, P<0.05), and improved more in the trial group than in the control group (t>2.095, P<0.05). Conclusion The long-term effect of BTX-A block is positive. The rehabilitation training after block can promote their motor function recovery.

Objective To observe the energy consumption of children with cerebral palsy before and after assisted walking. Methods From January, 2014 to October, 2015, 21 children in primary school of Grades 1~5 (control group) and 22 children with cerebral palsy in our hospital (observation group) were enrolled. They were required to walk in the 50 meters trail for six minutes. The resting heart rate, the walking distance and the heart rate after walking were measured, and the walking speed and the physical consumption index (PCI) were cal-culated. The observation group was tested with and without forearm crutches. Results Compared with the control group, the walking dis-tance and speed significantly decreased (t>10.653, P<0.001), and the PCI significantly increased (t>4.207, P<0.001) in the observation group. For the observation group without forearm crutches, the heart rate after walking, and the difference of the heart rate significantly de-creased (t=8.389, P<0.001), and the walking distance, walking speed and PCI decreased (t>2.382, P<0.05) when they walked with forearm crutches. Conclusion Assisted walking can decrease the energy consumption of children with cerebral palsy.

Objective To explore the application of gas chromatography mass spectrometry (GC/MS) in children with high risk of inher-ited metabolic disease. Methods From March, 2010 to November, 2015, 119 children suspected with inherited metabolic disease were in-cluded. The urinary organic acid was detected with GC/MS, and related diseases were screened. Results Seventeen children (14.29%) were positive with inherited metabolic disease, in which 16 cases (94.12%) manifested with development retardation. 20 children (16.81%) were probable positive. Conclusion GC/MS is effective in screening children with high risk of inherited metabolic disease, which can provide ba-sis for further diagnosis.