Objective To assess the efficacy,compliance and safety of ketogenic diet (KD) for children with infantile spasms,thus to provide an effective basis for the treatment of infantile spasms.Methods Twenty-five patients with infantile spasms were treated with KD.The gas chromatography-mass spectrometry and high performance liquid chromatography-mass spectrometry (HPLC-MS/MS) were used,except for metabolic diseases,to detect the blood routine,urine,stool,blood Iipids,liver function,as well as electrocardiogram (ECG),electroencephalograph (EEG),ultrasound of the urinary system and other related checks of all patients.The KD antiepileptic drug therapy was given after all children were admitted to hospital,and KD started directly in all patients without fasting.The efficacy compliance and safety were followed up in this study.Results KD maintenance therapy for 1 month,3 mouths,6 months were given to 25 cases (100％,25/25 cases),to 22 cases (88％,22/25 cases),and to 10 cases (40％,10/25 cases),respectively.Among them 7 patients (28％,7/25 cases) were in complete control of seizures within 1 month.Up to Class Ⅱ,Ⅲ efficacy level accounted for 32％ (8/25 cases),12％ (3/25 cases),respectively.Thirteen cases of children had varying digestive symptoms,10 cases of them developed asymptomatic hypoglycemia,and 9 cases of children had sleep trouble during KD treatment,but after symptomatic treatment,children's adverse reactions almost subsided.Only 4 cases of children discontinued treatment due to adverse reactions.All children's seizures were fully controlled.Conclusions The effect of KD is sure in the treatment of infantile spasms.Although KD has some adverse reactions,but it can be tolerated;serious body organ dysfunction treated by KD + antiepileptic drugs combination therapy for 1 to 6 months is not found yet,so the therapy is worthy of promotion clinically.

Objective To study the clinical features and gene mutations of early - onset epileptic encephalo-pathy(EOEE)of unknown causes and to identify pathogenic mutations of EOEE by next generation sequencing. Methods The clinical data of 62 cases diagnosed with unexplained EOEE between June 2013 and June 2015 were ob-tained and analyzed. Specimens were collected from the selected children and their parents. Next generation sequencing was used to detect epilepsy - related genes,and Sanger sequencing was performed to verify the results and confirm the source of the parents,further to identify suspected pathogenic mutations of EOEE. Results Among 62 cases with unex-plained EOEE,37 cases(61% )were diagnosed as non - specific EOEE,17 cases(27% )with West syndrome,6 ca-ses(10% )with Dravet syndrome,1 case(1% )with Ohtahara syndrome,1 case(1% )with early myoclonic epileptic encephalopathy. The pathogenic mutations were not detected among 17 cases with West syndrome and the early myoclonic epileptic encephalopathy. Among 37 cases with non - specific EOEE,suspected pathogenic mutations were detected in 7 cases. Three cases of missense mutations for PCDH19 gene,1 case of frame - shift mutation and 1 case of splice site mutation for CDKL5 gene,1 case of denovo nonsense mutation for KCNQ2 gene,and 1 case of missense muta-tion for GRIN2A gene were detected. Among 6 children with Dravet syndrome,2 cases of frame - shift mutations and 1 case of missense mutation for SCN1A gene were detected,of which 2 cases were of frame - shift mutations,1 case was denovo mutation,1 case of missense mutation for SCN1A gene and 1 case of missense mutation for SCN1A combined with SCN9A gene were detected. One case of denovo nonsense mutation for STXBP1 gene was detected. After treatment, 22 cases with clinical seizures were under control,and 40 cases were out of control. Conclusions The clinical pheno-types for children with unexplained EOEE were varied. SCN1A,SCN9A,STXBP1,PCDH19,CDKL5,KCNQ2 and GRIN2A genes detected in China are in accordance with those reported internationally and some gene sites are denovo mutations which have not been reported. The SCN9A gene may be the new pathogenic mutation for Dravet syndrome. And the KCNQ2 gene nonsense mutation may be the lethal mutation.

Objective To discuss the clinical features of non-conclusion seizures(NCS)in infants less than 1 -year-old,and the diagnostic and differential diagnostic value of video electroencephalography (VEEG).Methods A total of 30 NCS patients were took the regular electroencephalography at the first 20 minutes before VEEG monitoring which continued 2 to 4 hours in order to compare the differences between the two monitoring methods,then all patients were taken follow-up after one month,two months,and three months.Results Three cases attacks(accounting for 10.0%)were found by regular electroencephalograph-y,while 23 attacks(accounting for 76.7%)were found by VEEG following no epileptic discharge,either.All patients were found to be corporality NCS,having no psychogenic NCS,among which,19 patients(accounting for 63.3%)were non epileptic tonic-closure seizures,including 2 patients always keeping eyes staring at somewhere,2 patients gritted teeth or grinned,1 patient often put head back,1 patient stretched the neck or necking down,2 patients shrug his shoulders,9 patients shook head,and another 2 always put forth his strength, with or without stiffness,limb jitter,or made face red;on the other,7 patients (accounting for 23.3%)were benign myoclonus,another 4(accounting for 13.3%)were benign non epileptic infant spasm,no other types were found.Nobody had any antiepileptic therapies,15 of them have no more attacks in less than one month,7 in two months,1 in three months,and another 7 appeared occasionly under the conditions of great happiness,extreme an-ger or been raged.Conclusion VEEG have irreplaceable diagnostic and differential diagnostic value in infants less than 1 -year-old with NCS,and play an important role in monitoring the development of NCS.

Objective To increase the solubility and relieve the mucous irritation of cantharidin (CA) by preparing cantharidin-hydroxypropyl-β-cyclodextrin (CA/HP-β-CD) inclusion complex.Methods The inclusion complex was prepared by co-evaporation method and characterized by differential scanning calorimetry (DSC),X-ray diffractometry (XRD),and nuclear magnetic resonance (NMR).Results The disappearance of CA as well as the shift of exothermic peaks shown in DSC results indicated the complexation phenomenon.XRD results showed that the crystalline CA pattern had disappeared,and in NMR results,H-5 shifted from δ 3.731to 3.695 after complexation and H-2 shifted from δ 3.626 to 3.598,which suggested that part of the drug had entered the HP-β-CD cavity to form an inclusion complex.The solubility increased 10.3 times after complexation and the mucous irritation of CA was relieved remarkably.Conclusion Through complexation with HP-β-CD,the solubility and dissolution rate of CA are improved significantly,and the irritation of musous is relieved.

The development of precision medicine in 21st century has accelerated a new area of medicine,bringing a precise project of diagnosis and treatment.The new techniques for genetic diseases including next generation sequencing and copy number variation detection technology have facilitated the diagnosis and treatment of genetic and rare diseases in children's neural system,providing a new directed therapies especially for creatine deficiency syndromes,pyridoxine dependent epilepsy,glucose transporter type 1 deficiency syndrome,malignant migrating partial seizures in infancy,GRIN2A-related early-onset epileptic encephalopathy,KCNQ2-related epilepsies.With the new area of precision medicine arrival,an epoch-making revolution for the diagnosis and treatment of genetic and rare diseases in children's neural system is coming towards us.

A novel strain,which could use 2-hydroxypyridine (2HP) as the sole source of carbon,nitrogen,and energy,was isolated from petroleum-contaminated soil at the Liaohe estuarine wetland.Strain 2PR was identified as Arthrobacter based on the morphology and 16S rRNA gene sequence.The optimum growth and degradation condition upon 2PR is 30℃ and pH 7.0,respectively.Under this condition,2HP degradation rate were 97.34％,94.95％,94.48％ and 89.21％ with 2,4,6 and 8 mg/ml initial concentration of 2HP at 42,96,120 and 156 h,respectively.Strain growth and 2HP degradation kinetics studies indicated that the strain followed Logisitic model,which could provide a theoretical and technical reference for the biodegradation of 2HP.The color of strain 2PR culture upon 2HP-MSN changed from colorless to blue,and then turned to brown.The blue pigment,which was observed at the culture of strain 2PR,was identified as 4,5,4',5'-tetrahydroxy-3,3'-diazadiphenoquinone-(2,2') by high performance liquid chromatography (HPLC) and high-performance liquid chromatography-mass spectrometry (LC-MS) analysis.The LC-MS signal with m/z =249.1 was observed in resting cells reaction sample with 2HP as the substrate.The degradation of 2HP might be achieved by a dioxygenase to produce 2,3,6-trihydroxypyridine,which could transformed to the blue pigment spontaneously,and then 2,3,6-trihydroxypyridine was converted with an pyridine-ring cleavage reaction.Among all the reported strains,strain 2PR has the strongest tolerance and the highest 2HP degradation efficiency at present.The strain has a promising application potential for 2HP waste treatment.

Course assessment is the important part of teaching and education.Double effects of improving the teaching and education quality can be achieved through emphasizing assessment methods,separating teaching and testing,building test bank and network exam,offering course of basic clinical skills as well as verified assessment methods,such as stage-based comprehensive exam,unified exam of the course,national entrance exam.The first pass rate of national medical practitioner qualification exam can be guaranteed through implementing these measures.

Hemorrhage ; genetics ; Humans ; Mutation ; Recurrence ; alpha 1-Antitrypsin ; genetics

Codon, Nonsense ; Epilepsy ; genetics ; Humans ; KCNQ2 Potassium Channel ; genetics

Objective To study the diagnostic value of serum α-L-fueosidase (AFU), transforming growth factor alpha(TGF-α)and ferritin (Fer) in primary hepatic carcinoma (PHC). Methods AFU and Fer in the serum were studied in 36 patients with benign hepatism and 56 patients with low concentration AFP of PHC hepatic carcinoma by automatic biochemistry analyzer Roche Modular. ELISA was used to assay the degree of TGF-α The sensitivity and specificity of AFU, TGF-α and Fer for low expression AFP of PHC were evaluated by ROC curve. Results The serum AFU, Fer and TGF-α levels were all significant difference in the patients than those in controls (P <0.05). The area under ROC curve of these indexes in descending order was AFU (0.707), TGF-α (0.677) and Fer (0.592). The diagnostic sensitivity of Fer was lower than AFU and TGF-α in diagnosis of AFP lowly expression PHC. The ratio showed AFU better than TGF-α The diagnostic specificity of AFU (64 %) was higher than that of TGF-α (61%) when TGF-α and AFU was at the same diagnostic sensitivity (64 %). Conclusion AFU is more valuable than Fer and TGF-α for negative or AFP lowly expression PHC, meanwhile it has much more accuracy.