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Objective:To summarize the clinical features of developmental epileptic encephalopathy children with DNM1 gene variants. Methods:The genotypes and clinical features of 15 children with DNM1 variants related epilepsy in the Department of Pediatrics, Peking University First Hospital from June 2017 to October 2021 were retrospectively analyzed. Results:A total of 8 male and 7 female epilepsy patients with DNM1 gene variants with the age of seizure onset ranging from 15 days to 22 months were recruited, median age was 8 months.All cases belonged to de novo heterozygous variants of the DNM1 gene, including 13 cases of missense variants, 1 case of frame shift variant and 1 case of nonsense variant, 8 cases of ectopic sites have not been reported.Multiple seizure types were observed, including epileptic spasms in 15 patients, focal seizure in 9 patients, atypical absence seizure in 2 patients and tonic seizure in 2 patients.There were various types of seizures in 7 children.Nine cases occurred as infantile spasm for the first time.All 15 patients showed varied degrees of development delay, among them, 11 cases had developmental retardation before epilepsy.Three patients had slow rhythm of electroencephalogram background activity, the electroencephalography showed hypsarrhythmia in 13 patients; clinical seizures were detected in 8 cases, among them, epileptic spasms were captured in 7 patients, tonic seizure was captured in 1 patient.Widened frontotemporal subarachnoid space, cerebral atrophy, and corpus callosum dysplasia were examined in 6, 2 and 3 patients by cranial magnetic resonance imaging, respectively.All 15 cases were diagnosed as developmental epileptic encephalopathy, of which 13 cases were consistent with infantile spasms.The age of the last follow-up ranged from 1 year old to 7 years old.After multi-antiepileptic drug treatment, 2 patients were remission, 1 patient(small size of identical twins) died of severe pneumonia at the age of 2 years, and 12 patients still had intermittent seizures, of which 1 patient was transformed from infantile spasms to Lennox-Gastaut syndrome. Conclusions:The onset age of developmental epileptic encephalopathy caused by the DNM1 gene variant usually begins in the infantile period, the peak onset age was 8 months.The main types of seizures include epileptic spasms and focal seizures, developmental retardation can occur before seizures.The clinical manifestations are mostly infantile spasms syndrome, and some children can be transformed into Lennox-Gastaut syndrome.
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Objective:To establish a method for rapid determination of iodine in whole blood by direct alkali dilution inductively coupled plasma mass spectrometry (ICP-MS).Methods:Totally 0.50 ml whole blood sample was collected, and 2% ammonia and 0.01% Triton X-100 solution were added to constitute a total volume of 10.0 ml. After shaking to uniformity, 1.0 μg/ml rhodium and 20% isopropanol were used as on-line internal standard solution. The flow ratio of internal standard solution to the solution to be measured was 1∶16. The sample was quantitatively determined by ICP-MS. The linear range, limit of detection (LOD), accuracy and precision of the method were evaluated.Results:Iodine in whole blood could be determined and had a good linear relationship within the range of 0-200 μg/L, with correlation coefficient ( r) > 0.999. The LOD of the method was 0.1 μg/L, the limit of quantitation (LOQ) was 0.3 μg/L, the recovery rate of iodine in whole blood was 88.5%-106.1%, and the relative standard deviation was 2.2%-4.7% ( n=7). Conclusions:A method for rapid determination of iodine in whole blood by direct alkali dilution ICP-MS is successfully established. This method is accurate, simple, rapid, and highly automatic, and it can be widely applied in determination of iodine in whole blood.
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Objective@#To establish a liquid chromatography-tandem mass spectrometry (LC/MS/MS) method for the determination of microcystin-LR (MC-LR) in drinking water, investigate its removal efficiency during tap water advanced treatment process and analyze its degradation products in the tap water.@*Methods@#Two parallel water samples were collected from each point of tap water advanced treatment process in September 2015, November 2015 and January 2016, respectively, and treated by mixing, filtration, concentration, elution, nitrogen blow and re-dissolvement. The samples were analyzed by LC/MS/MS to determine the MC-LR concentration and its removal efficiency during treatment process. The combination of actual water enrichment (including source water enrichment of 50 times and 1 500 times concentrated, finished water enrichment of 50 times and 2 500 times concentrated) and laboratory simulated water (including the mixture of MC-LR and liquid chlorine in the mass ratio of 1∶10, 1∶20, 1∶100 and 1∶1 000, respectively) were used to qualitative analyze the MC-LR degradation products by Orbitrap mass spectrometry.@*Results@#The linearity of MC-LR ranged from 2 to 200 μg/L with the detection limit of 0.007 9 μg/L and the limit of quantification of 0.026 3 μg/L. The recovery rate of MC-LR from different contration in drinking water were from 94.88%-101.47%. The intra-day precision was 2.51%-7.93% and the intra-day precision was 3.24%-8.41%. The average concentration of MC-LR in source water was (0.631±0.262) μg/L, 94.0% of which can be removed by ozone exposure while the concentrate was (0.038±0.016) μg/L, biological pre-treatment and chlorination. The remaining can hardly be removed by sand filtration, ozone exposure, activated carbon, ultrafiltration and other processes. The MC-LR average concentration in the finished water maintained at about (0.036±0.016) μg/L. Degradation products including hydroxy-microcystin, methyl-hydroxy-microcystin, methyl-microcystin were identified in the laboratory simulated water of the mixture of MC-LR and liquid chlorine in the mass ratio of 1∶10.@*Conclusion@#The established MC-LR detection method can be well applied to the monitoring of MC-LR in drinking water due to its simple pre-treatment process and good methodological validation parameters. The degradation products of treatment processes was different.
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Objective To investigate the effects and related mechanism of recombinant Wnt 3a protein on vascular smooth muscle cells(VSMCs) migration and adhesion .Methods Primary rat VSMCs were cultured .The experiment was divided into the Wnt3a group and control group .The VSMC migration ability was detected by Transwell experiment .And the ability of VSMC ad-hesion to extracelluar matrix was detected by the celluar matrix adhesion assay .The protein expression levels of β-catenin ,phos-phor-β-catenin (Ser675) ,GSK-3β,phosphor-GSK-3β(Ser9) and integrin-linked kinase(ILK) in VSMCs were detected by Western blot and analyzed .Results The number of VSMCs migration in the Wnt3a group was significantly higher than that in the control group (P<0 .05) .Compared with the control group ,the number of VSMCs adhesion to collagen Ⅰ and the optical density value in the Wnt3a group were significantly increased (P<0 .05) ,and the protein expression levels of β-catenin ,Ser675 ,GSK-3β,Ser9 and ILK in the Wnt3a group were significantly up-regulated (P<0 .05) .Conclusion Wnt3a can regulate VSMCs migration and adhesion by ILK .
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Objective To investigate the levels of IL-18,IL-10 and MMP-9 in coronary heart disease(CAD)patients with in-stent restenosis(ISR)after percutaneous coronary intervention (PCI)treatment,so as to discuss the influence of inflammatory fac-tors to ISR after PCI.Methods CAD patients with ISR after PCI were angiographically re-evaluated and formed the ISR group(n=68)and the non-ISR group(n=173)based on the presence or absence of ISR.109 subjects without angiographic evidence of CAD formed a reference control group(control group).The plasma IL-18,IL-10 and MMP-9 concentrations of subjects were measured. Results The concentrations of serum IL-18 and MMP-9 in ISR group and non-ISR group were significantly higher than control group,while IL-10 level was the opposite.Contrasted with non-ISR group,the concentrations of serum IL-18 and MMP-9 in ISR group were significantly higher,but IL-10 level was the opposite too.There were significantly statistical differences(P <0.05)Con-clusion There is significant correlation between ISR and serum levels of IL-18,IL-10 and MMP-9.The inflammation may have im-portant impact on the process of ISR.
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Objective To investigate the efifcacy and adverse effect of ultrasound-guided injection of different dosage of thrombin in the treatment of femoral artery pseudoaneurysm formed after vascular intervention. Methods 48 cases of femoral artery pseudoaneurysm after vascular interventional operation in our hospital were randomly divided into two groups according to the dosage thrombin given.Under ultrasound guidance, patients in the observation group (n=24) received injection thrombin 100U/ml while patients in the control group received injection of thrombin 500U/ml.All the operational procedures were identical between the 2 groups. Results No statistical differences were found in clinical characteristics, total number injection needed and operation time between two groups.Recurrence pseudoaneurysm was noted in 1 cases in the observation group. 2 cases of superifcial femoral arteries thrombin and 1 case of fever were recorded in control group. There was no difference in adverse event rates between the 2 group. Conclusions Ultrasound-guided injection with low dose thrombin in the treatment of post interventional femoral artery pseudoaneurysm is equally effective as higher dose.
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Objective To assess the cardiovascular events after percutaneous transluminal coronary intervention (PCI) and the influence of fluvastatin on inflammation factors and prognosis of PCI patients.Methods One hundred and eighty-seven patients whose coronary stenosis ≥ 70% diagnosed through coronarography and underwent PCI from Jun.2005 to Feb.2008 were recruited in the current study.These patients were divided into two groups,the control group (n =91) was treated regularly and the treat group (n =96) was treated with additionally fluvastatin(40 mg/d).Fasting venous blood was obtained before and after medicine treatment,12,24 hours and two weeks after PCI.IL-18,IL-6 and TNF-α were measured through ELISA.Results Before medicine treatment,there were no difference of IL-18 ,IL-6 and TNF-α between the two groups( P ＞ 0.05 ).After medicine treatment,IL-18,TNF-α and IL-6 decreased significantly compared to those before treatment in both groups ( P ＜ 0.05 ),and these measurements decreased more in the treatment group ( P ＜ 0.01 ).At the 12th hours after PCI,IL-18,TNF-αand IL-6 in the control group increased to (423.5 ± 298.7 ),( 316.1 ± 72.6 ) and (42.3 ± 10.1 ) ng/L,respectively,and arrived the peak at the 24th hour,which were significantly higher than those before medicine treatment( P ＜ 0.01 ).In the treatment group,these measurements at the 12th and 24th hour after PCI were slightly higher than those before medicine treatment without significant difference ( P ＞ 0.05 ).After 12 hours ofPCI,IL- 18,TNF -αand IL-6were (276.5 ± 189.4 ),( 175.3 ± 51.9) and ( 10.1 ± 8.1 ) ng/L,which were significantly lower than those in the control group(P ＜ 0.01 ).Two weeks after PCI,IL-18,TNF-α and IL-6 in the treatment group were (137.0 ±34.2),(35.1 ± 21.6) and ( 8.7 ± 3.2 ) ng/L,which were significantly lower than before medicine treatment ( P ＜0.01 ).Conclusions PCI may aggravate the inflammation response of coronary artery.Statins may alleviate the inflammation response.IL-18,TNF-α and IL-6 are sensitive indices of early inflammation response after PCI,their changes might have prediction value for adverse cardiovascular events.Therefore these indices might be used as a target in the statins treatment in the primary prevention,as well as the evaluation of the effectiveness of PCI,statins and joint PCI and statins.
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Objective: To study the chemical constituents of volatile oil from flower of Dendrobium candidum Wall. ex Lind1. Methods: The chemical compositions of volatile oil of the plant which were obtained by steam distillation with hexane were analyzed by GC-MS equipped with a elastic quartz capillary column-HP-5MS5% Phenyl Methyl Siloxane (30 m? 0.25 mm ?0.25 ?m). The constituents were identifi ed by their mass spectra. The relative percentage of the oil constituents was calculated from the GC peak areas. Results: Eighty-nine kinds of chemical constituents in Dendrobium candidum Wall.ex Lind1.flower were separated; of which fifty-nine compounds representing 76.51% of the oil were characterized. Relative contents that were more than 2.0% were determined as Nonanal 9.21%, Eudesma-5,11-dien-8,12-olide 5.55%, (E)-2-Decenal 4.63%, 2,3-Dehydro- 1,8-cineole 4.39%, Pentacosane 4.03%,?-Cedrol 3.69%, Isoalantolactone 3.65%, (E)-2-Heptenal 3.60%, E,E-2,4-Decadienal 2.14%,?-Phorone 2.03%.Conclusion: This paper reports, for the first time, the composition of volatile oils of Dendrobium candidum Wall.ex Lind1.flower by GC/MS.
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Objective:To compare the volatile chemical constituents from the shell and kernel of Caesalpinia minax Hance.Methods:The volatile chemical compositions of Caesalpinia minax Hance were obtained by organic solvent-wet distillation and were analyzed by GC-MS equipped with a elastic quartz capillary column HP-5MS 5%Phenyl Methyl Siloxane(30m?0.25mm?0.25?m).The constituents were identified by their mass spectra.The relative percentage of the volatile constituents was calculated from the GC peak areas.Results:One hundred and fifteen kinds of chemical constituents in the shell of Caesalpinia minax Hance were separated and sixty-three of them,which accounts for 54.7%of total volatile constituents, were characterized.There are five kinds whose relative contents were more than 2.0%.One hundred and two kinds of chemical constituents in the kernel of Caesalpinia minax Hance were separated and fifty-one of them,which accounts for 50.0%,were characterized.There are seven kinds whose relative contents were more than 2.0%.Form the shell and kernel of Caesalpinia minax Hance there were forty kinds of chemical constituents the same.The most relative contents were Limonene(5.31%,shell)and 1-Hexanol(12.94%,kernel).Conclusion:This paper reports,for the first time,the comparison of volatile constituents from shell and kernel of Caesalpinia minax Hance.It is helpful for controlling the quality and further researching of Caesalpinia minax Hance.
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0.99).The limits of detection were below 0.5 ?g/L.The rates of recovery for the spiked samples ranged from 70.1% to 117.9% and the relative standard deviations(RSD) were between 0.4%-16.1%.Conclusion The method is simple,rapid,accurate and is applicable to the simultaneous determination of multi-pesticide residues in drinking water.