Objective To explore the effective of minimally invasive techniques for diagnosis and treatment of the spinal fungal infec-tions. Methods The clinical data of 6 patients with spinal fungal infection in our hospital from January 2012 to June 2014 was reviewd. All patients were taken biopsy diagnosis for spinal fungal infection by percutaneous endoscopic lumbar discectomy. Along with the oral antifungal drugs treatment,all the patients received the interbody fusion surgery by percutaneous pedicle screw fixation and debridement. The clinical and image data were collected during the 6 months following period. Results The symptoms of all the patients was relieved after surgery and no complications occurred. All the patients were followed up for 6 months. The value of ESR and CRP decreased to normal level at the first month after operation. The VAS scores decreased from (7. 0 ± 0. 8) to (0. 8 ± 0. 7) and the ODI scores decreased from (56. 1 ± 7. 7) to (5. 7 ± 2. 1). The X-ray image confirmed solid fusion at the 6 months after surgery. Conclusion The minimally invasive technique of spine is a good way to treat spinal fungal infection.

Objective To explore the difference between before and afteintervertebral fusion in transforaminal lumbainter-body fusion (TLIF) by unilateral obilateral pedicle screw (PS) fixation .MethodThe L3 -5 Cdatbased on the normal people were used to rebuild the L3 -5 three-dimensional finite elemenmodel(INT) and TLIF operative model .On thibasi,the unilateral Pfixation (M1) and bilateral Pfixation (M2) modelbefore the intervertebral fusion and the unilateral Pfixation (M3) and bi-lateral Pfixation (M4) modelafteintervertebral fusion were buil.Aftesetting the boundary and loading the burden ,the ante-flexion ,retroversion ,lateral bending and rotation of lumbavertebrwere simulated and the L 4 -5 segmenanguladisplacemenand the stresdistribution of implanwere recorded .ResultThe unilateral and bilateral Pfixation model before fusion reduced the range of motion(ROM ) of segmencompared with the Inmodel ,the bilateral fixation wareduced greatethan the unilateral fixa-tion ,buthe difference aftefusion wasignificantly decreased .The peak Von Misestressebefore fusion in the unilateral Pfixa-tion wasignificantly highethan thain the bilateral fixation ,while theipeak Von Misestresseaftefusion trended to be con-sisten.Conclusion The unilateral Pfixation aftefusion can provide the consistensegmenstability same to the bilateral Pfixa-tion .The long-term effecof TLIF with unilateral Pfixation isimilato thawith the bilateral Pfixation .

Objective To assess the biomechanical stability and vertebra strain distribution of asymmetrical posterior internal fixation for minimally invasive transforaminal lumbar interbody fusion ( MI-TLIF) . Methods Range of motion ( ROM) and strain distribution testing were performed in 8 fresh-frozen calf lumbar spine motion segments in flexion/extension, lateral bending, and axial rotation using 5. 0 Nm torques at the L4-5 motion segment. The sequential test configurations included intact motion segment, TLIF with unilateral pedicle screw ( UPS) , TLIF with UPS plus transfacet pedicle screws ( UPS+TFPS) , and TLIF with bilateral pedicle screw ( BPS) . The ROM was deter-mined to assess the construct stability. Strain distribution was recorded along with flexion and lateral bending configurations. Results In flexion/extension, lateral bending, and axial rotation, there was no significant difference in the ROM between BPS and UPS+TFPS fixation after TLIF. After TLIF, the UPS construct provided less segment stability than BPS and UPS+TFPS fixation in flexion, lateral bending. Strain distribution under UPS+TFPS fixation was respectively 21. 8% and 24. 2% higher than that under BPS fixation along with flexion and lateral bending. Conclusion UPS+TFPS fixation provides stability comparable to that of MI-TLIF with bilateral PS, with better load share with the vertebrae body.

Objective To explore the factors related with neurological function in children after hemispherectomy for intractable epilep-sy. Methods Thirty-three children suffered hemispherectomy from May, 2014 to June, 2015 were analyzed. Their preoperative data were col-lected. A structured questionnaire was used to evaluate the neurological function. The relationship between preoperative parameters and post-operative functional outcomes was analyzed. Results Bilateral lesions in MRI (P<0.001) and age (P<0.001) were related with functional out-come. Conclusion The prognosis of hemispherectomy for children with intractable epilepsy is related to the contralateral lesion and age.

Objective To investigate the effect of acitretin on the histopathology and ultrastructure of lesions from patients with bullous ichthyosiform erythrodermia (BIE), and to explore mechanisms underlying the modulation of keratinization process by acitretin. Methods Lesional tissue was obtained from the back of 4 patients with BIE before and after the treatment with acitretin. Light microscopy and transmission electron microscopy were performed to observe histopathological and ultrastructural changes in these lesions. Results After treatment, the improvement in clinical manifestations was more than 75% in all the 4 patients, and reached 90% in 1 of the 4 patients. As histopathology and ultrastructural study showed, there was an obvious improvement in hyperkeratosis and continuity of extra cellular lamellar membrane, and a decrease in keratin deposition in prickle and granular layer, but no remarkable changes were observed for the proliferation of prickle cells or acantholysis. Conclusions Acitretin shows a favorable efficacy in clinical treatment of BIE,with histopathological and ultrastructural improvement mainly located in the stratum corneum. The modulation of keratinization process in keratinocytes by acitretin appears more apparent in granular and corneum layers.

OBJECTIVE:To investigate the effects of saikosaponin-d(SSd) on tissue plasminogen activator(TPA),plasminogen activator inhibitor(PAI),malonaldehyde(MDA) and NO in rats with liver fibrosis induced by dimethylnitrosamine(DMN).METHODS:Eighteen SD healthy rats were randomized to control group(NS ip qd for 4 weeks),model group(10mg? kg-1 DMN ip 3 times per week for 4 weeks) and SSd-treated group(10mg? kg-1 DMN ip 3 times per week + SSd 1.8 mg? kg-1 ip for 28 consecutive days).All rats were killed 1h after the last time of administration,blood samples were taken from abdominal aorta and liver samples were taken for the observation of pathology and detection of indices of TPA,PAI,MDA and NO etc.RESULTS:SSd could lessen the degree of liver fibrosis and improve the fibrinolytic activities of TPA and PAI,meanwhile,it showed clearance effect on MDA and marked protective effect on hepatic cells.There were significant differences between SSd-treated group and the model group.CONCLUSION:SSd exhibited protective function on experimental hepatic fibrosis in rats,which may be attributed to the improving of fibrinolytic activity,eliminating of lipid peroxidation and enhancing of NO level.

Objective: To summarize the phenotype of epileptic children with SCN2A mutations. Methods: Epileptic patients who were treated in the Pediatric Department of Peking University First Hospital from September 2006 to October 2017 and detected with SCN2A mutations by targeted next-generation sequencing were enrolled. Clinical manifestations of all patients were analyzed retrospectively. Results: A total of 21 patients (16 boys and 5 girls) with SCN2A mutations were collected. Twenty-one SCN2A mutations were identified. Ten patients had mutations inherited from one of their parents and 11 patients had de novo mutations. The age of epilepsy onset was from 2 days to 2 years and 6 months: six patients with seizure onset in neonates (29%) , six patients with seizure onset between 1 month and 3 months of age (29%), three patients with seizure onset between 4 months and 6 months of age, two patients with seizure onset between 7 months and one year of age, and four patients with seizure onset beyond one year of age. Multiple seizure types were observed. The focal seizure was the most common seizure type which was observed in 18 patients (86%) . Spasm seizure was observed in 6 patients (29%) . Other seizure types were rare. In 19 patients, seizures manifested in clusters (90%) . In 3 patients, seizures manifested fever-sensitive. Nine of ten patients with inherited SCN2A mutations had normal development. However, all patients with de novo SCN2A mutations had mild or severer development delay. In 21 patients with SCN2A mutations, five were diagnosed with benign familial infantile epilepsy, 3 with benign familial neonatal-infantile epilepsy, 3 with Ohtahara syndrome, 3 with West syndrome, 2 with encephalopathy with early infantile onset epilepsy, one with febrile seizures plus, one with Dravet syndrome, one with encephalopathy with childhood-onset epilepsy, one with autism with epilepsy and one with intellectual disability with epilepsy. Conclusions The clinical features of patients with SCN2A mutations include that main seizure onset is the neonate and early infancy, and the main seizure type is the focal seizure, manifested in clusters. The large spectrum of SCN2A-related epilepsy, which not only includes epilepsy with a comparatively favorable prognosis, but also epileptic encephalopathy. De novo mutations often lead to severe phenotype with development delay.

OBJECTIVETo summarize the clinical features of those Duchenne and Becker muscular dystrophy (DMD and BMD) patients who are complicated with epilepsy, and try to analyze the genotype- phenotype correlation.

METHODBy a retrospective analysis of 307 patients with DMD and BMD who attended Peking University First Hospital from February 2006 to September 2014,7 patients complicated with epilepsy were identified and their clinical data were collected. The possible mechanism of epilepsy in DMD and BMD patients was proposed after analyzing the genotype-phenotype correlation.

RESULT(1) Among 307 DMD and BMD patients, 7 cases had epilepsy, the prevalence was 2. 28%. (2) The age of onset of epilepsy ranged from 8 months to 11 years. Focal seizure was the most common seizure type (6 cases) , while other seizure types were also involved, such as generalized tonic-clonic seizure. As to epilepsy syndromes, 1 boy was diagnosed as benign childhood epilepsy with centrotemporal spikes (BECT). Six patients were treated with 1 or 2 types of antiepileptic drugs and seizures were controlled well. On follow-up, 6 of the 7 children had normal mental development, while the remaining 1 patient was diagnosed as mild mental retardation. (3) DMD gene mutations of all 7 patients were analyzed. Exons deletions were found in 6 cases while point mutation was found in 1 case.

CONCLUSIONThe prevalence of epilepsy in DMD and BMD patients was higher than the prevalence in normal population. The age of onset of epilepsy varies, and focal seizure may be the most common seizure type. Some patients may also present as some kind of epilepsy syndrome, such as BECT. In most patients, seizures can be controlled well by 1 or 2 types of antiepiletic drugs. No clear correlation was found between genotype and phenotype in DMD and BMD patients who were complicated with epilepsy, probably due to limited number of cases.

Anticonvulsants ; therapeutic use ; Child ; Epilepsy ; complications ; drug therapy ; epidemiology ; Exons ; Genotype ; Humans ; Intellectual Disability ; etiology ; Male ; Muscular Dystrophy, Duchenne ; complications ; genetics ; Mutation ; Phenotype ; Prevalence ; Retrospective Studies ; Seizures ; Sequence Deletion

Objective To identify the rare causative genes of Dravet syndrome (DS) in patients who do not have SCN1A mutation and to analyze genotypes and phenotypes of DS patients with different rare causative genes.Methods DS patients were collected from the Pediatric Department of Peking University First Hospital from February 2005 to August 2016.SCN1A and PCDH19 gene mutations were screened by Sanger sequencing and multiple ligation-dependant probe amplification (MLPA).Next generation sequencing (NGS) for epilepsy-related gene-panel was applied to SCN1A and PCDH19 mutation-negative patients.The phenotypes of DS patients with different rare causative genes were analyzed.Results Six hundred and seventy patients with DS were collected and 556 patients (83.0％)carried SCN1A mutations and 6 patients with PCDH19 mutations.Epilepsy-related gene-panel was applied to remain 108 patients without SCN1A or PCDH19 mutation,and among them 12 patients were detected with 6 rare causative genes,with heterozygous mutations in GABRA1 mutations in 3,GABRG2 in 2 cases,GABRB2 mutations in 2 cases and SCN2A mutation in 1 case,complex heterozygous mutations in TBC1D24 in 2 cases and ALDH7A1 in 2 cases.The clinical phenotypes of 6 patients with PCDH19 mutations were featured by clustering of repeated seizures with short periods of times,only 1 case had an episode of status epilepticus.Patients with GABRB2 mutations had a relatively better outcome of seizure control.Many episodes of myoclonic status were emerging as hallmark features in patients with TBC1D24 mutations.Vitamin B had a dramatic therapeutic effect in patients with ALDH7A1 mutations.The clinical phenotypes of DS patients with GABRG2,SCN2A and GABRA1 had no obvious specificity.Conclusions The rare causative genes in DS patients include PCDH19,GABRG2,SCN2A,GABRA1,GABRB2,TBC1D24 and ALDH7A1.The finding of causative genes GABRB2 and TBC1D24 may enrich the gene spectrum of DS.Patients with PCDH19 mutations are featured by clustering of repeated seizures with short periods of time and rare status epilepticus.Patients with GABRB2 mutations have a relatively better outcome of seizure control.Many episodes of myoclonic status are emerging as hallmark features in patients with TBC1D24 mutations.

Objective To investigate the effective rate of Flunarizine in treating alternating hemiplegia during childhood (AHC) kids,and to analyze the related factors influencing efficacy.Methods The clinical data and peripheral blood DNA of AHC patients at the Outpatient and Inpatient Ward of Department of Pediatrics,Peking University First Hospital from August 2005 to May 2016 were collected,and the A TP1A3 gene mutations were screened.Clinical efficacy of oral administration of Flunarizine for improving paroxysmal symptoms such as alternating hemiplegia in AHC patients was followed up.Results A total of 96 AHC patients were collected,and among them,75 cases received oral administration of flunarizine were followed up for 1-11 years.The age of last follow-up was 1-21 years old (the median age was 5 years old).Fifty of these 75 patients (66.7％) were improved,while 25 patients were not alleviated (33.3％).In 50 improved patients,43 patients (86.0％) reduced the frequency of hemiplegia attacks,28 patients (56.0％) reduced the duration,and 3 patients (6.0％) alleviated the severity.Univariate analysis between the effective group and ineffective group showed that differences in age of onset,age of initial treatment,dose and carrying D801N,E815K or G947R mutation of ATP1A3 gene were not statistically significant(all P ＞0.05).The findings by multivariate analysis indicated that age of onset,age of initial treatment,dose and carrying D801N,E815K or G947R mutation of ATP1A3 gene were not related to the efficacy of Flunarizine.Conclusion Flunarizine is effective for most AHC children,which can reduce the frequency of hemiplegia attacks,shorten the duration,and alleviate the severity of attacks.Age of onset,age of initial treatment,dose and carrying D801N,E815K or G947R mutation of gene A TP1A3 are not factors influencing efficacy.