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??Abstract??Objective To study the effectiveness of the antiepileptic lamotrigine ??LTG?? and the relationship between the plasma concentration and oral dosage?? co-medication and patients age. Methods Totally 111 epileptic patients were divided into 2 groups?? LTG monotherapy group ??n=58?? and LTG??VPA ??Valproate??VPA?? group ??n=53??. LTG??VPA group was divided into three subunits in terms of plasma concentration of VPA. LTG monotherapy group was divided into two subunits?? older ??7??18 y?? n=40?? and younger ??3????7 y?? n=18?? group. The dosage was then increased to target dose gradually. Blood specimens were collected more than one month after LTG target dose or when effective maintenance dosage was achieved. The serum concentrations of LTG and VPA were determined by high performance liquid chromatography. Results The effect of the LTG was 82.9%.VPA combination enhanced LTG blood concentration. The ratio of serum level and dose of LTG did not vary with the range of the serum concentration of VPA 0.28??0.62mol/L.In younger group the relativity between blood concentration of LTG and LTG maintaining dose didn’t exist. However?? there was a positive correlation in the older group. Conclusions When we prescribe LTG??we should consider epilepsy type?? co-medication and individual difference as a whole.Therefore TDM??therapeutic drug monitoring??TDM??is an essential tool to control seizure and avoid side effects.     

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??Abstract??Objective To study the clinical and neuro-electrophysiological features of transient epileptic seizures by using polygraphic channel VEEG—EMG monitoring. Methods The information of 51 epilepsy children with rapid falling??nodding or limb shaking in video electroencephalogram was collected in the Department of Pediatric Neurology?? Peking University First Hospital from June 2012 to March 2013.The clinical features??EEG and EMG patterns were analyzed retrospectively. Results Totally 745 seizures were found in 51 patients. The seizures included 391 epileptic spasms??52.5%????138 myoclonic seizures??18.5%????117 atonic seizures??15.7%????61 negative myoclonus??8.2%????27 tonic seizures??3.6%??and 11 myoclonic atonic seizures??1.5%??.Different clinical manifestations were with different clinical-EEG-EMG patterns.According to the duration of EMG changes??patients were divided into EMG-burst group and EMG-static group. Conclusions Epileptic seizures with rapid falling, nodding or limb shaking are most affected by epileptic spasms??myoclonic seizures??atonic seizures??negative myoclonus??tonic seizures and myoclonic atonic seizures.Their common feature is rapid and transient??which makes them difficult to be diagnosed only by illness history.But by performing VEEG-EMG??we can accurately identify the types of seizures??which will be helpful in the diagnosis and treatment.     

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??Abstracts?? Objective To study the T2* magnetic resonance imaging for evaluation of iron deposition of liver?? pancreas and heart in β- thalassemia major ??β-TM?? patients and the relationship of the serum ferritin with iron overload. Methods Measurement of hepatic?? pancreatic and cardiac MRI T2* was performed in 153 patients with β-TM from May 1?? 2010 to December 31?? 2010??The demographics and serum ferritin ??SF?? were collected. The rate of the iron overload in liver?? pancreas and heart was analyzed. The rates of combined pancreatic and cardiac iron overload in different hepatic iron overload groups were compared. Results According to MRI T2*?? there was serious hepatic iron overload in 85 cases?? moderate in 39?? mild in 21?? no iron overload in 8. Similarly?? there was pancreatic iron overload in 134?? no iron overload in 19. In terms of cardiac iron overload?? there was serious cardiac iron overload in 37 cases?? mild in 21?? no iron overload in 95. No correlation was found between hepatic?? pancreatic and cardiac MRI T2* and age or SF?? but hepatic MRI T2* correlated with pancreatic and cardiac MRI T2*??P = 0.000?? r = 0.529?? r = 0.369???? and pancreatic MRI T2* correlated with cardiac MRI T2* well ??P = 0.000?? r = 0.715??. As grade of hepatic iron overload increases?? the patients demonstrated higher rate of combination of pancreatic and cardiac iron overload simultaneously ??χ2 = 20.78??P = 0.000??.     

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??Abstract??Objective To explore the role of miR-125b in pediatric classical APL?? in order to seek new therapeutic strategies for drug resistant APL. Methods The target genes of miR-125b were predicted online?? validated by Dual-luciferase assay and western blot assay. MiR-125b expression levels were measured in 33 matched-pair APL samples??treated in the First Affiliated Hospital of Sun Yat-sen University and other members of South China Children APL Cooperative Group from March 2007 to September2012??at initial diagnosis and complete remission ??CR?? and in 5 relapsed patients by qRT-PCR. Proliferation and apoptosis were analyzed respectively using the RNA transfection?? MTT assay and flow cytometry. Results The expression of miR-125b was up-regulated in pediatric APL at diagnosis and relapse bone marrow samples?? but returned to normal after complete remission?? miR-125b could promote leukemic cell proliferation and inhibit cell apoptosis by regulating the expression of tumor suppressor Bak1. Remarkably??it was also found to be up-regulated in leukemic drug-resistant cells??NB4-R1??NB4-R2??HL-60/DOX???? and overexpression of exogenous miR-125b could increase their resistance to therapeutic drugs. Conclusion MiR-125b can regulate pediatric classical APL cells proliferation?? apoptosis and drug resistance by repressing BAK1 protein expression.     

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??Abstract?? Objective To study balloon dilatation with cryotherapy under bronchoscope for subglottic stenosis in infants and young children??and to explore the efficacy of this new technology??the timing of treatment and safety. MethodFrom July 2009 to May 2014 in 28 SGS cases aged from 1 month to 3 years?? bronchoscopic balloon dilatation treatment with CO2 cryotherapy was performed?? and different types of SGS treated by minimal invasi were assessed regarding efficacy, complications and outcome. Results The infant SGS were divided into ??°~??° by severity?? and soft membrane SGS and scarring SGS by the causes of stenosis. ??° SGS included 16 cases, in which 8 cases soft membrane SGS were treated by balloon dilatation effectively?? 9 cases after combined treatment; in scarring SGS balloon dilatation was effective in 1 case?? 4 cases after combined therapy; ??° SGS included 8 cases?? soft membrane SGS were treated effectively in 2 cases?? 4 cases after combined treatment; in scarring SGS balloon dilatation was effective in 1 case?? 2 cases after combined therapy; ?? °SGS included 4 cases?? 1 case of soft membrane SGS and 1 case of scarring SGS responded well to integrated treatment .Conclusion MSCT and bronchoscopy assessment is used in grading the extent and causes of stratification in infants with subglottic stenosis?? and then we can select the appropriate treatment programs to improve the prognosis of the disease and improve life quality of SGS children.     

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??Abstract?? Objective Toinvestigatethe correlation among exhalednitric oxide??lung function and Asthma Control Test inasthmatic childrenand the clinicalsignificance. Methods A total of 136 cases of asthmatic children aged 5 to 15 years old were recruited from Shengjing Hospital of China Medical University.The fraction of exhaled nitric oxide?? lung function and ACTscore were measured??and the correlation among them was analyzed. Results Negative correlation was found between FeNOand ACT??r= -0.251??P<0.005??.Negative correlation was found between FeNOandFEV1/FVC of lung function??r=-0.206??P<0.05????but not FEV1or PEF.Positive correlation was found betweenACT scoreandFEV1/FVC of lung function ??r=0.242??P<0.01???? but not FEV1or PEF. Conclusion For all subjects??FeNO is negatively correlated with ACT score and FEV1/FVC.ACT is positively correlated with FEV1/FVC.When the subjects are grouped??the three don’t have stable correlations.FeNO is a good biomarker to evaluate the airway inflammation of asthmatic children.ACT score evaluates the level of asthma control in children.Lung function evaluates airway obstruction.FeNO??lung function andACTare different measurements that evaluate asthma in different ways.None of them can be used instead of another in clinical practice??and they are complementary.Combinedapplicationscan effectivelyimprove the diagnosis??treatment and asthmacontrol inasthmatic children.     

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??Abstract??Allogeneic hematopoietic stem cell transplantation ??HSCT?? is the only curative therapy for severe beta-thalassemia major. Patients with an available human leukocyte antigen ??HLA?? identical sibling donor should be offered HSCT as soon as possible before development of iron overload and transfusion associated complications?? and the cure rate was up to 80%??90%. High-resolution HLA typing matched unrelated donor transplants also achieved good results. HSCT from HLA-mismatched relatives or HLA-phenotypically-identical donor is an option to be performed in expert centers. Optimization of conditioning regimen and techniques to control transplant-related complications will further improve outcomes.     

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??Abstract??Congenital hemolytic anemia ??CHA?? is a hereditary disorder with main clinical presentation of hemolytic anemia??It is the most common disease of hereditary disorders in the world. According to the pathogenic mechanism??the disorders can be divided into three groups??abnormalities of the red cell membrane??red cell enzyme disorders and hemoglobinopathies.The most common CHA are hereditary spherocytosis??G-6-PD deficiency and the thalassemias??This article focuses on the management of these three types of diseases.     

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??Abstract?? Objective To analyze ALDH3A2 mutation in four Chinese patients with Sjögren-Larsson syndrome ??SLS??. Methods Four patients were clinically diagnosed with SLS. Respectively take 3 ml of peripheral blood. All 11 exons and exon-intron boundaries of ALDH3A2 gene were amplified by polymerase chain reaction ??PCR?? and directly sequenced for genomic DNA. Results 1. All four patients had congenital ichthyosis?? mental retardation??and spastic diplegia or tetraplegia. Patient 1 had a compound heterozygote??c.1157A??G inherited from her father?? IVS5-1del G inherited from her mother. Both her parents had normal phenotype. Patient 2 and Patient 3 were siblings?? they were both homozygotes??a A-to-G transition at nucleotide 1157 in exon 8. The heterozygosity was demonstrated in their mother. Both her parents had normal phenotype. Conclusion Two different mutations were examined in these 4 Chinese patients?? and the SLS cases were confirmed by ALDH3A2 mutation analysis.     

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??Abstract?? Objective To identify the clinical features and the prognosis of anti-NMDAR encephalitis in children??so as to improve the pediatrician’s awareness about this disease. Methods The clinical features??therapeutic regimen and prognosis of 17 children with anti-NMDAR encephalitis were summarized by a retrospective and follow-up study. Results Among the 17 patients with anti-NMDAR encephalitis??12 were males and 5 were females.Their age varied from 2 to 12 years??and the average age was 5 years 8 months.The most common initial symptoms were convulsions ??7 cases?? and psychiatric symptoms ??7 cases??.The common symptoms in the course of the disease were psychiatric symptoms??17 cases????sleep disorders ??16 cases????extrapyramidal symptoms ??14 cases????and convulsion ??11 cases??.Only 4 patients had autonomic symptoms.The anti-NMDAR antibody were found in all the patients’CSF.The EEG test of 16 patients showed diffused slow background.Tumors were not found in any patient. Fourteen cases were treated with IVIg and methylprednisolone??2 cases only received IVIg therapy and 1 case gave up.Rituximab ??2 cases?? and cyclophosphamide ??1 cases?? were administrated in 3 cases with no improvement after the above treatment.The patients had been followed up for 3 to 15 months.Twelve of them recovered completely??2 cases died??2 cases had epilepsy??and 1 case had speech disorder. Conclusion Psychiatric symptoms??sleep disorders??extrapyramidal symptoms and convulsion are the common symptoms of anti-NMDAR encephalitis in children.Tumors and autonomic nervous system dysfunction rarely happen. Immunotherapy is effective in the majority of the patients.The prognosis of anti-NMDAR encephalitis in children is optimistic.