The pathogenesis of epilepsy related to primary inherited neurotransmitter disorders and advance in its diagnosis and treatment / 中华实用儿科临床杂志

Inherited neurotransmitter disorders are a group of rare nervous system diseases frequently diagnosed in children.The disorders are caused by biosynthesis, breakdown or transport detects of neurotransmitters or cofactors essential in their biosynthesis.They can be classified as primary and secondary disorders.The clinical phenotypes of primary inherited neurotransmitter disorders include developmental delay, dyskinesia, schizophrenia, and epilepsy.Among them, epilepsy is the main clinical phenotype.Gamma-aminobutyric acid, glutamate, acetylcholine, biogenic amine and other neurotransmitters are involved in the epileptogenesis.The epilepsy related to primary inherited neurotransmitter disorders has diverse phenotypes, from mild seizures to severe early onset epileptic encephalopathy.An inherited neurotransmitter disorder should be suspected in children with epilepsy if the following features are present: (1) early onset epileptic encephalopathies associated with developmental impairment, autonomic dysfunctions or movement disorders; (2) frequent occurrence of such peculiar electroencephalogram patterns as burst suppression, hypsarrhythmia, and diffused/focal/multifocal electroencephalogram abnormalities; (3) neuroradiological signs of metabolic intoxication; (4) detection of specific cerebrospinal fluid biomarkers.Early identification, diagnosis and treatment is of great significance in reducing the incidence, lowering the mortality rate, and improving the prognosis of patients with epilepsy related to primary inherited neurotransmitter disorders.

Advances of microglia in the development of epilepsy / 中华实用儿科临床杂志

The synchronous abnormal discharge of neurons leads to epileptic seizures.However, in addition to neurons, microglia, as the main immune cells in the brain, plays an important role in the development and maintenance of neural circuits.Microglia is involved in early epileptic seizures, which can be mediated by increasing inflammatory cytokines and chemokines.Microglia can regulate the abnormal neurogenesis after epileptic seizures, promote the death of neurons after seizures, and cause neurodegeneration.Moreover, it can also affect synaptic pruning after seizures, eliminate synapses by phagocytosis or stripping, destroy the balance between synaptic excitation and inhibition, and aggravate seizures.Microglia plays an important role in the development of epilepsy.However, whether microglia participates in the occurrence of epilepsy still needs to be further studied.

Clinical features and genetic analysis of the early-onset epileptic encephalopathy caused by sodium channel mutations / 中华实用儿科临床杂志

Objective:To explore the clinical phenotype characteristics of early-onset epileptic encephalopathy (EOEE) caused by sodium channel mutations.Methods:A retrospective study was used.A total of 52 EOEE patients treated in the Department of Neurology, Children′s Hospital of Fudan University and Department of Neurology, Wuhan Children′s Hospital, Tongji Medical College, Huazhong University of Science & Technology from June 2016 to June 2019 were recruited.Peripheral blood samples of 52 patients and their parents were collected for analyzing pathogenic mutations by the next generation sequencing and copy number variations of whole exons in family. Chi- square test was used to compare seizure control data among different voltage-gated sodium channel α1 subunit ( SCN1A) mutation types. Results:A total of 35/52 cases (67.3%) were diagnosed as Dravet syndrome, 3/52 cases (5.8%) were West syndrome, and 14/52 cases (26.9%) were non-symptomatic EOEE.The electroencephalogram (EEG) findings showed a large number of multifocal spikes, spike-slow waves, sharp waves, and sharp-slow waves.A total of 45/52 cases (86.5%) showed normal brain magnetic resonance imaging(MRI), 1 case had slightly widened bilateral frontal sulcus, 1 case had widened bilateral temporal pole and frontal top subarachnoid space, and the remaining 5 cases had widened extracerebral space and slightly larger ventricles.Thirteen cases were re-examined with brain MRI, and 3 cases had mild brain atrophy.A total of 43/52 cases (82.7%) were examined with SCN1A gene mutations, of which 28/52 cases (53.8%) were missense mutations, 5/52 cases (9.6%) were nonsense mutations, 7/52 cases (13.5%) were frameshift mutations and 3/52 cases (5.8%) were splice site mutations.A total of 3/52 cases (5.8%) had SCN2A mutations, of which 2/52 cases (3.8%) were missense mutations, and 1/52 case (1.9%) was a frameshift mutation, 1/52 cases (1.9%) carrying the missense mutation of the SCN3A gene.A total of 5/52 cases (9.6%) had missense mutations of the SCN8A gene.After an average of 1-year follow-up, a total of 13/52 cases (25.0%) had more than 1-year control of seizure, of which 6/52 cases (11.5%) with seizure control for more than 2 years, and 4/52 cases (7.7%) with more than 3-year control.Children carrying SCN1A missense mutations were relatively easier to be controlled for seizures than those carrying SCN1A truncation mutations (nonsense mutations+ frameshift mutations) ( P<0.05). In 5 children carrying SCN8A mutations, 2 cases of them had seizures control for more than 1 year after adding Oxcarbazepine, but the improvement of mental motor function was not obvious. Conclusions:In children with EOEE associated with sodium channel gene mutations, SCN1A, SCN2A, SCN3A, and SCN8A mutations were pathogenic factors.Among them, SCN1A was the most common pathogenic gene for EOEE, with the mutation rate of 82.7%.Dravet syndrome was the most common clinical phenotype of EOEE associated with sodium channel gene mutations.Epileptic seizures in children carrying SCN1A missense mutations were easier to be controlled than those with truncated mutation (nonsense mutations + frameshift mutations), suggesting that the gene mutation type was related to the degree of seizures control.Oxcarbazepine was effective in the treatment of EOEE with SCN8A gene mutations, indicating that the combination therapy using anti-epilepsy drugs can be applied to EOEE patients according to the type of gene function.

Clinical features and genetic analysis of a case with Perlman syndrome due to variant of DIS3L2 gene / 中华医学遗传学杂志

OBJECTIVE@#To analyze the clinical phenotype and genetic characteristics of a child with Perlman syndrome.@*METHODS@#Genomic DNA was extracted from peripheral blood samples from the patient and her parents. Whole exome sequencing (WES) was carried out to detect potential variant in the proband. Candidate variant was verified by Sanger sequencing. The pathogenicity of candidate variants was evaluated according to the guidelines of the American College of Medical Genetics and Genomics (ACMG).@*RESULTS@#The results of WES showed that the proband has harbored compound heterozygous variants of the DIS3L2 gene, namely c.2109delC and c.1829.c.1830insC, which were respectively inherited from her mother and father. The results were confirmed by Sanger sequencing. Based on the ACMG guidelines, the two novel variants were both predicted to be pathogenic (PVS1+PS2+PM2).@*CONCLUSION@#The compound heterozygous variants of the DIS3L2 gene probably underlay the Perlman syndrome in this patient. Above finding has enriched the spectrum of DIS3L2 gene mutations.

Expression of ASBT and ASGPR mediated receptors for oral liver-targeting preparations in a rat model of hepatic alveolar echinococcosis / 临床肝胆病杂志

ObjectiveTo investigate the feasibility of apical sodium-dependent bile salt transporter (ASBT) and asialoglycoprotein receptor (ASGPR) in the design of oral liver-targeting preparations for the treatment of hepatic alveolar echinococcosis (HAE) by measuring the expression of ASBT and ASGPR. MethodsA total of 18 male Sprague-Dawley rats were selected, among which 10 were used to establish a model of HAE (HAE group) and 8 were used as controls (normal group). Immunofluorescence assay, Western blotting, and quantitative real-time PCR were used to measure the expression distribution, protein expression level, and mRNA expression level of ASBT in the ileal tissue of HAE model rats and normal rats; the same methods were used to measure the expression level of ASGPR in the non-diseased liver tissue and the marginal zone of liver tissue lesion of HAE model rats and the liver tissue of normal rats. The t-test was used for comparison of normally distributed continuous data between two groups; a one-way analysis of variance was used for comparison between three groups, and the least significant difference t-test was used for comparison between two groups. ResultsThe results of immunofluorescence assay, Western blotting, and quantitative real-time PCR showed that compared with the normal group, the HAE group had significantly upregulated expression of ASBT in the ileal tissue (t=5309, 4.110, and 28.060, all P＜0.05) and a significantly higher expression level of ASGPR (the closer to the lesion, the higher the expression) (F=110666, 128.201, and 143.879, all P＜0.001). ConclusionASBT and ASGPR can be used as potential mediated receptors for oral liver-targeting preparations for HAE, which provides a theoretical basis for the design of oral liver-targeting preparations for the treatment of HAE.

Clinical and imaging features of mild encephalitis/encephalopathy with a reversible splenial lesion in children with mycoplasmmapneumonia infection / 中国医师杂志

Objective To investigate the clinical and imaging features of mild encephalitis/encephalopathy with a reversible splenial lesion (MERS) in children with mycoplasmmapneumonia infection.Methods The clinical data of 15 children with MERS diagnosed in our hospital were analyzed retrospectively.Results Among the 15 cases,there were 5 males and 10 females.The onset age ranged from 2 years old to 11 years old.All the 15 cases were onset of acute infection.8 cases were onset of vomiting,diarrhea and other gastrointestinal symptoms.2 cases were onset of respiratory tract infection such as cough.8 cases were accompanied by fever.15 cases were accompanied by convulsions.2 cases were onset of consciousness disturbance.All 15 children underwent lumbar puncture and routine cerebrospinal fluid tests were in normal range.Electroencephalogram examination was abnormal in 13 children,showing slow activity in each lead.The cranial MRI examination of the onset of 4-6 d suggested that the lesions of the corpus callosum were characterized by high signal intensity of DWI sequence.Etiological examination of 15 children showed mycoplasma pneumoniae (MP)-IgM or-Ab positive.In 10 children,the MRI of the corpus callosum was completely restored to normal after 7-12 d.15 children were treated with anti-infection and azithromycin orally,but not with propofol or hormone.They were discharged after 4-14 days of hospitalization.All 10 children were reexamined with MRI at 7-12 days intervals.Conclusions Minor encephalitis/encephalopathy associated with reversible corpus callosum pressure in children with mycoplasma pneumoniae infection is characterized by mild encephalitis or encephalopathy.The imaging of the corpus callosum is reversible and has a good prognosis.

Application of next-generation sequencing in children with unexplained neurodevelopmental disorders / 中国医师杂志

Neurodevelopmental disorders are diseases affecting language,sports,intelligence and social adaptability,and through appropriate early intervention,part of the affected children can recover to the same or similar level as normal children,so it is of vital importance to provide accurate early identification and comprehensive intervention for the affected children.Now the gene technology is applied widely,especially the next-generation sequencing is characterized by high throughput,low cost and fast sequencing,which has made great progress in assisting the diagnosis of children with unexplained neurodevelopmental disorders.Therefore,genetic diagnosis can be used to understand the prognosis of children and to provide genetic counseling for their parents,which is conductive to reducing their incidence and early intervention.

Advances in the diagnosis and treatment of lysosomal storage diseases / 国际儿科学杂志

Lysosomal storage diseases are kinds of rare diseases,most of which are autosomal recessive diseases.Currently more than 50 species have been found.However,the pathogenesis has not yet fully been understood,and the clinical phenotypes are different.Enzyme activity test is the golden standard for the diagnosis.Gene sequencing can be used as auxiliary and prenatal diagnosis.Generally,there are no effective treatments for lysosomal storage disease.Enzymic diagnosis and gene sequencing are commonly used means of prevention in prenatal diagnosis.In recent years,there has been great progress in terms of bone marrow transplantation,enzyme replacement therapy and gene therapy.In China,lysosomal storage disease spectrum is not yet comprehensive;knowledge of this type of disease is still insufficient.Therefore,for the earlier diagnosis and improved prognosis,strengthening the understanding of the disease is necessary.

Clinical features and genetic analysis of early-onset epileptic encephalopathy with pachygyria-lissencephaly / 中华实用儿科临床杂志

Objective To study the clinical phenotype and prognosis of children diagnosed with early-onset epileptic encephalopathy (EOEE) and pachygyria-lissencephaly,and to explore the potential genetic factors.Methods The clinical data of 65 children between December 2005 and December 2016 was obtained and analyzed.And the whole exome sequencing was analyzed by using second generation sequencing technology.Results Among 65 children,17 cases (26.1％) were diagnosed as lissencephaly,34 cases (52.3 ％) were pachygyria,and 14 cases (62.6％)were pachygyria with lissencephaly.Thirteen cases (20.0％) were infantile spasms,9 cases (13.8％) were ohtahara syndrome,3 cases (4.6％) were early myoclonic epileptic encephalopathy,and 40 cases (61.6％) were non-symptomatic EOEE.Six cases (6/65 cases,9.2％) were associated with dyskinesia,of whom 3 cases showed dystonia,2 cases of limb tremor,1 case of dancing-like movements.Electroencephalophalogram (EEG) showed serious multifocal discharge,40 cases had massive multifocal discharge.Brain images showed that simple pachygyria was more common (34/65 cases,52.3 ％).Among them,focal pachygyria was more common (25/34 cases,73.5 ％),mostly involving in the frontoparietal lobe (11/25 cases,44.0％).Copy number variations and whole exon sequencing were performed on 61 patients.Copy number variation was detected in 1 patient.There were 2 cases of lissencephaly-1/platelet-activating factor acetylhydrolase isoform 1B (LIS1/PAFAH1B1) mutation,1 case of syntaxin-blinding protein 1 (STXBP1)mutation,1 case of Aristaless-related homeobox (ARX) mutation,and 1 case of dynein cytoplasmic 1 heavy chain 1(DYNC1H1) mutation.The follow-up time varied from 1 year to 8 years [(3.5 ± 1.4) years],in which 20 cases had clinical seizures under control but 45 cases out of control.Conclusion Infantile spasms and non-syndromic EOEEare more common in children diagnosed with EOEE and pachygyria-lissencephaly.A small number of cases have dyskinesia.EEG shows serious abnormalities,mostly multifocal discharge.Brain images show simple pachygyria is more common,mostly involving in the frontoparietal lobe.Common gene mutations are LIS1/PAFAH1B1,STXBP1,ARX.Gene mutations can lead to both clinical manifestations of cortical deformity and EOEE,and genetic factors play an important role in children with brain developmental deformity and epilepsy.

The current precision medicine approaches in genetic epilepsies / 中国医师杂志

The increasing identification of genetic causes for epilepsy over the recent years improves the understanding of the underlying epileptog enic process,and allows for the possibility of directed therapeutic approaches.An ideal antiepileptic therapy consists of a drug which is able to influence the functional changes caused by a specific pathogenic variant.In this review,we describe the current precise medicine approaches in genetic epilepsies.Currently established or investigated precise medicine treatments include the ketogenic diet in patients with glucose transporter typel (GLUT1) deficiency,sodium channel blockers in patients with KCNQ2 mutations,and mechanistic target of rapamycin (mTOR)-inhibitors in patients with SCN2A and SCN8A mutations.These predominantly represent already available treatments that were repurposed for use in epilepsy.The development of new therapeutic agents aiming at targets identified in genetic epilepsies will advance epilepsy treatment considerably.

Characteristics and Kinetic Study of 2-Hydroxypyridine Degradation by a Novel Bacterium Arthrobacter sp.2PR / 中国生物工程杂志

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.

Advances in personalized diagnosis and treatment of treatable genetic diseases of pediatric neurology in precision medicine period / 中华实用儿科临床杂志

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.

The diagnostic and differential diagnostic value of video electroencephalography in infants less than 1-year-old with non-conclusion seizures / 中国小儿急救医学

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.

Clinical features and gene mutations analysis in 62 children with early - onset epileptic encephalopathy of un-known causes / 中华实用儿科临床杂志

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.

Correlation between the TNF-αGene Promoter-308G/A Polymorphism and the Chronic Hepatitis B / 现代检验医学杂志

Objective To investigate the association between the single nucleotide polymorphisms (SNP)in-308 loci of tumor necrosis factor-α(TNF-α)gene promoter region and chronic hepatitis B (CHB).Methods Genotypes of-308 loci of the TNF-αpromoter were examined by the polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP)in 142 patients with chronic hepatitis B (CHB group)and 150 healthy controls (HC group).The indexes for evalua-ting the curative effect were the ALT,AST,HBeAg,HBV-DNA and the viral load weight,HBV-LP and HBV-PreS1,mean-while,the correlations between related indexes and SNP in TNF-α308 loci were explored as well.Results There was no sta-tistical significance in frequency distribution difference of the genotypes and alleles of-308 loci between CHC and HC groups (P>0.05),the protective factors of TNF-α308 allele A may be not associated with CHB (OR=1.529,OR95%CI:0.872~2.684).There was no association between TNF-αgene promoter-308G/A polymorphism and the positive rates of AST, ALT,HBV-LP and HBV-PreS1 (P>0.05),however,TNF-α-308G/A polymorphism associates with the positive rates of HBeAg and HBV-DNA,and A-allele of 308 loci may increase the risk of HBeAg and HBV-DNA positive expression (HBeAg:OR=3.256,OR95%CI=1.105~9.594;HBV-DNA:OR=2.847,OR95%CI=1.059~7.655).Furthermore,A-allele compared with Gallele,statistically significant differences were observed in the certain HBVDNA viral load range of104~107 copies/ml (P <005).Conclusion TNFαgene promoter308G/A polymorphism would not be associated withCHB,but the TNFα308 gene G mutation of Aallele,which was associated with HBVDNA viral load,may be the susceptible factors of HBV infection.

Effects of 5-Aza-CdR on cell apoptosis in lung cancer A549/DDP cell line and expression of tumor suppressor gene hMLH1 / 肿瘤研究与临床

Objective To investigate the effects of 5-Aza-2'-deoxycytidine (5-Aza-CdR) on the apoptosis of A549/DDP cells and the expression of hMLH1 gene.Methods A549/DDP cells were treated with 5-Aza-CdR at 0.5,5,50 μmol/L.The growth curve of A549/DDP cells was investigated by MTT assay.The methylation status of hMLH1 gene was detected by methylation specific PCR (MSP).The expression of hMLH1 mRNA was evaluated by FQ-PCR.The apoptosis rate of A549/DDP cells was analyzed by flow cytometry.Results A549/DDP cells treated with 5-Aza-CdR showed a slow growth in comparison with the control cells,and the growth rates were decreased with the increasing of 5-Aza-CdR concentration.The apoptosis rate after treatment was higher than that before treatment in A549/DDP cells (P ＜ 0.05),and had a positive correlation with 5-Aza-CdR dose (P ＜ 0.001).hMLH1 mRNA expression level was increased in a 5-Aza-CdR concentration dependent manner (P ＜ 0.05).hMLH1 promoter in A549/DDP cells was methylated and hMLH1 mRNA was negatively expressed before treatment,but the mRNA was positively expressed after treatment with 5-Aza-CdR.Conclusions 5-Aza-2'-CdR can induce apoptosis of A549/DDP cells by inducing demethylation of hMLH1 promoter and thereby enhancing hMLH1 gene expression and its tumor suppressor function.

Clinical analysis of ketogenic diet for 25 children with infantile spasms / 中华实用儿科临床杂志

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.

Physicochemical Properties and Gastric Mucosa Irritation of Cantharidin-hydroxypropyl-β-cyclodextrin Inclusion Complex / 中草药·英文版

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.