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.

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.

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.

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

Objective To investigate the effect and mechanism of dexmedetomidine, mifepristone and dexmedetomidine plus mifepristone on the fear memory in rats with post?traumatic stress disorder ( PTSD) . Methods 40 male SD rats were randomly divided into five groups with 8 in each group:control group (group C),PTSD model group (group P),dexmedetomidine group (group D),mifepristone group ( group M) and dexmedetomidine plus mifepristone group ( group U) . Fear memory in rats was evaluated by fear conditioning test ( FC) . Anxiety?like behavior was assessed by the elevated plus?maze test ( EPM) . Ex?pressions of BDNF and its receptor TrkB in the hippocampus of rats after fear condition were detected using Western blot ( WB) and CORT level in the serum was detected using enzyme?linked immunosorbent assay (ELISA). Results Compared with group P,the freezing scores in the FC in group D((32.29±8.09) %), M((33.33±8.21) %),and U((9.38±3.31) %) were significantly decreased (P<0.05). The times and en?tries in the open arms of the EPM were significantly increased (P<0.05) . The expressions of BDNF in group D(0.65±0.04),M(0.71±0.04),U(0.79±0.07) and TrkB in group D(0.66±0.04),M(0.71±0.04),U (0.86±0.03) were obviously rescued in hippocampus of rats (P<0.05). The CORT level in serum in group D ((37.65±12.37)μg/L) and U((59.10±5.23)μg/L) was decreased (P<0.05). There was no difference be?tween group P and M. Conclusion These results suggest that dexmedetomidine, mifepristone and dexme?detomidine plus mifepristone can significantly enhance fear extinction and improve anxiety?like behaviors in rats with PTSD. The mechanism may be that dexmedetomidine and mifepristone could enhance the expres? sions of BDNF and TrkB in the hippocampus.

Objective To explore time difference attack therapy in Acinetobacter bauamnnii infection. Methods 67 patients with Acinetobacter bauamnnii were divided into two groups. The experimental group were first given Fosfomycin 4 g 5% GS 100 ml iv girt to finish within 60 min and then given Cefperazone/Sulbactam 4 g 0.9% NS 250 ml iv gitt immediately bid. The control group were given: Ampicillin/Sulbactam 3 g 0.9% NS 250 ml iv gitt (tid) + Ciprofloxacin 0.2 g iv girt (bid). The treatment course all was 11 days. Results The overall effective rate of experimental group methods was superior to that of control group(X2 =9.56 ,P =0. 023). Conclusion The Fos-fomycin Cefperazone/Sulbactam time difference attack therapy for the treatment of Acinetobacter the bauamnnii in-fection is a new way.

Objective:To explore the clinical effect and safety of modified microvascular decompression (MVD) on the recurrent trigeminal neuralgia.Methods:50 patients with recurrent trigeminal neuralgia from 2010 to 2015 in the Center of Cranial Nerve of Shanghai Jiaotong University (including Shanghai Tongren Hospital and Xinhua Hospital) were retrospectively analyzed,patients before 2012 were given regular MVD (MVD group,n=22),patients after 2012 were given improved MVD (modified MVD group,n=28).MVD group was given trigeminal nenre root decompression by traditional MVD,the method was described as follows:the skin,myofascial was cutted in turn along the first incision,the scar tissue on the edge of bone window was separated,and the bone window was appropriately expanded until the dura mater was fully exposed.Then dura mater was cutted open to sharply dissect the arachnoid,Meckel cavity was probed up to neurological brain regions (REZ),the trigeminal nerve segment was closely examined to separate the responsible blood vessels of oppressive nerve and the Teflon pad of cotton imbedding at the first operation.Modified MVD group was given detection of intracranial trigeminal nerve and its surrounding structures,dissection of brainstem extended segment of trigeminal neuralgia,and the compression of superior cerebellar artery to brainstem extended segment of trigeminal neuralgia was fended off.The postoperative remission rate,recurrence and complications between two groups were compared.Results:The postoperative remission rate in modified MVD group was 100.0％,which was significantly higher than that of the MVD group (P＜0.05).There was no statistical significance in the incidence of postoperative complications between two groups (P＞0.05).The recurrence rate at 1 year after surgery in modified MVD group was 0％,which was significantly lower than that of the MVD group (22.7％,P＜0.05).Conclusions:Decompression of trigeminal nenrerootcombined with brainstem extended segment of trigeminal neuralgia in MVD for recurrent trigeminal neuralgia could effectively relieve the pain,reduce the risk of postoperative recurrence,and wouldn't increase the postoperative complications.

OBJECTIVETo purify the arsenic-binding proteins (As-BP) in hamster plasma after a single oral administration of arsenite (iAs(III)).

METHODSArsenite was given to hamsters in a single dose. Three types of HPLC columns, size exclusion, gel filtration and anion exchange columns, combined with an inductively coupled argon plasma mass spectrometer (ICP MS) were used to purify the As-BP in hamster plasma. SDS-PAGE was used to confirm the arsenic-binding proteins at each purification step.

RESULTSThe three-step purification process successfully separated As-BP from other proteins (ie, arsenic unbound proteins) in hamster plasma. The molecular mass of purified As-BP in plasma was approximately 40-50 kD on SDS-PAGE.

CONCLUSIONThe three-step purification method is a simple and fast approach to purify the As-BP in plasma samples.

Administration, Oral ; Animals ; Arsenic ; blood ; Arsenites ; administration & dosage ; pharmacokinetics ; Carrier Proteins ; blood ; Chromatography, High Pressure Liquid ; methods ; Cricetinae

Objective To evaluate the effect of health belief model combined with PDCA circulation in preventing DVT of patients undergoing total hip replacement and total knee replacement.Methods Patients who met our inclusion criteria were randomly divided into the intervention group and the control group with 45 cases in each group.The patients in the control group received routine health education.In addition,the intervention group received health education based on health belief model combined with PDCA circulation besides the routine.The intervention results were compared between the two groups.Results The patients' mastery of DVT disease related knowledge,health belief and the implementation of preventive measures in the intervention group were significantly better than those of the control group one week after surgery.The score of the health belief,perceived susceptibility,perceived severity,perceived benefits of action and serf-efficacy in the intervention group were significantly superior to those of the control group.1 patient appeared blood stasis in the intervention group.However,in the control group,there were 2 patients with DVT and 6 patients with blood stasis.The effect of preventive measures in the intervention group was better than the control group.Conclusions Health education based on health belief model combined with PDCA circulation could effectively enhanced the patients' DVT disease related knowledge,health belief and the implementation of preventive measures,thereby reduce the risk of DVT and improve the patients' quality of life.