Clinical analysis of 103 children with Angelman syndrome / 中华实用儿科临床杂志

Objective@#To investigate the correlation between clinical phenotype, electroencephalogram (EEG) characteristics and genotype in children with Angelman syndrome(AS).@*Methods@#A total of 103 children with AS at Department of Neurology, Children′s Hospital of Fudan University from June 2017 to June 2018, were included in this study.The information of clinical characteristics, EEG manifestations, genotypes as well as the epileptic outcome were collected retrospectively.The correlations between clinical phenotype, genotype, and epileptic outcome were evaluated.@*Results@#(1) Of the 103 cases, 48 were male (46.6%) and 55 were female (53.4%). (2) Genotypes on AS critical region were maternal chromosome 15q11.2-q13 [86.4%(89/103 cases)], paternal uniparental disomy [3.9%(4/103 cases)], imprinting defects [1.9%(2/103 cases)], and mutations in the maternal copy of UBE3A [7.8%(8/103 cases)]. (3) Apparent happy demeanor or smile and general developmental delay were observed in all AS children.Dyskinesia accounted for 98.1% (101/103 cases), followed by oral movement or suck disorders [97.1%(100/103 cases)] and abnormal posture [67.0%(69/103 cases)]. The proportion of acquired small head circumfe-rence or microcephaly, flat occiput or occipital groove and wide-spaced teeth were 61.2%(63/103 cases), 85.4%(88/103 cases) and 44.7%(46/103 cases), respectively.(4) Behavioral problems like fascination with water, sleep problems and feeding difficulties were found in 86.4%(89/103 cases), 89.3%(92/103 cases) and 85.5%(88/103 cases) of the children, respectively.Sleep disorders [94.4%(84/89 cases) vs.57.1%(8/14 cases)] and feeding difficulties [93.3%(83/89 cases) vs.35.7%(5/14 cases)] were more frequently seen in children with maternal absence group, compared those with no absence, and the differences were statistically significant (all P<0.05). (5) Epilepsy was present in 77.7% (80/103 cases) of children with onset age varying from 8 to 72 months and 80.8% (59/73 cases) were developing seizures prior to 3 years old.Children with maternal absence showed more multiple seizure types than those with no absence[41.7%(32/68 cases) vs.0(0 case)], and the difference was statistically significant(P<0.05). Children with well-controlled epilepsy had more atonic seizure, compared with those with poorly controlled seizure [48.3%(14/29 cases) vs.18.5%(4/27 cases)], and the difference was statistically significant(P<0.05).@*Conclusions@#Sleep disorders, feeding difficulties in infancy and multiple seizure types are more commonly seen in AS children with maternal absence.Atonic seizure is easier to be controlled over other types of seizures.

Clinical analysis of 103 children with Angelman syndrome / 中华实用儿科临床杂志

Objective To investigate the correlation between clinical phenotype,electroencephalogram(EEG) characteristics and genotype in children with Angelman syndrome(AS). Methods A total of 103 children with AS at Department of Neurology,Children′s Hospital of Fudan University from June 2017 to June 2018,were included in this study. The information of clinical characteristics,EEG manifestations,genotypes as well as the epileptic outcome were collected retrospectively. The correlations between clinical phenotype,genotype,and epileptic outcome were evaluated. Results (1)Of the 103 cases,48 were male(46. 6﹪)and 55 were female(53. 4﹪).(2)Genotypes on AS criti﹣cal region were maternal chromosome 15q11. 2－q13[86. 4﹪(89/103 cases)],paternal uniparental disomy[3. 9﹪(4/103 cases)],imprinting defects[1. 9﹪(2/103 cases)],and mutations in the maternal copy of UBE3A[7. 8﹪(8/103 cases)].(3)Apparent happy demeanor or smile and general developmental delay were observed in all AS children. Dyskinesia accounted for 98. 1﹪(101/103 cases),followed by oral movement or suck disorders[97. 1﹪(100/103 cases)]and abnormal posture[67. 0﹪(69/103 cases)]. The proportion of acquired small head circumfe﹣rence or microcephaly,flat occiput or occipital groove and wide－spaced teeth were 61. 2﹪(63/103 cases),85. 4﹪(88/103 cases)and 44. 7﹪(46/103 cases),respectively.(4)Behavioral problems like fascination with water,sleep problems and feeding difficulties were found in 86. 4﹪(89/103 cases),89. 3﹪(92/103 cases)and 85. 5﹪(88/103 cases)of the children,respectively. Sleep disorders[94. 4﹪(84/89 cases)νs. 57. 1﹪(8/14 cases)]and feeding difficulties[93. 3﹪(83/89 cases)νs. 35. 7﹪(5/14 cases)]were more frequently seen in children with maternal ab﹣sence group,compared those with no absence,and the differences were statistically significant(all P＜0. 05).(5)Epi﹣lepsy was present in 77. 7﹪(80/103 cases)of children with onset age varying from 8 to 72 months and 80. 8﹪(59/73 cases)were developing seizures prior to 3 years old. Children with maternal absence showed more multiple seizure types than those with no absence[41. 7﹪(32/68 cases)νs. 0(0 case)],and the difference was statistically significant (P＜0. 05). Children with well－controlled epilepsy had more atonic seizure,compared with those with poorly con﹣ trolled seizure[48. 3﹪(14/29 cases)νs. 18. 5﹪(4/27 cases)],and the difference was statistically significant( P＜0. 05). Conclusions Sleep disorders,feeding difficulties in infancy and multiple seizure types are more commonly seen in AS children with maternal absence. Atonic seizure is easier to be controlled over other types of seizures.

Biomechanical analysis of two fixation methods in treating spine fracture and dislocation / 中国组织工程研究

BACKGROUND:Thoracic or lumbar spine fracture and dislocation mainly treated by internal/external fixation devices with surgical methods.Fixation methods in treating spine fracture and dislocation is an important subject for scholars.OBJECTIVE:To quantitative analyze the treatment of spinal fracture and dislocation using pedicle screw and plate fixation,and to provide mechanical parameters for clinical application.METHODS:Shimadzu electronic universal testing machine was used to simulate L_1 lumbar fracture and dislocation treated by plate fixation and pedicle screw fixations,specimens were underwent flexion,extension,compression,as well as torsion tests,with speed of 5 mm/min.The torsion test was performed on the torsion machine with speed of 0.05 (°) / s.All the experimental data were analyzed by statistical analysis and paired t test.RESULTS AND CONCLUSION:The results demonstrated that the outcomes of compression test had no significant differences between 2 groups (P>0.05).The left and right torsion angle of the pedicle screw fixation group was smaller than that of the plate fixation group (P<0.05),and the flexion and extension displacements was smaller in the pedicle screw fixation group than in the plate fixation group (P<0.05).It suggested that plate fixation is worse than pedicle screw fixation,while pedicle screw fixation is conductive to bone healing,thus,pedicle screw fixation is a better internal fixation device.

Study on bone metobolism change in thirty hyperthyroidism patients / 吉林大学学报(医学版)

Objective:To study the effect of thyroid function on bone metabolism. Methods:Serum FT3,FT4 were investigated by radioimmunoassay (RIA) and bone mineral density of spine (L2～4) weremeasured by dual energy x-ray absorptinmetry and other markers related to bone metabolism were alsomonitored in 30 patients with hyperthyroidism and 30 healthy volunteers. Results :The levels of FT3,FT4,ALP were significantly higher than those of the normal controls. BMD of spine decreased significantly incomparison with the controls ,and the degree of severity and incidence increased with age. Conclusion:Thy-roid hormone might speed up bone turnover directly with increased bone resorption to induce bone massloss.