Objective To analyze the clinical data of 2 cases of CHD2 gene related epilepsy and to investigate their phenotypes and gene mutation types. Methods The clinical data of 2 probands and their families were collected. The peripheral blood of the probands and their parents was extracted for genomic DNA. High-throughput sequencing was used to detect the exons and their intronic regions to define the gene mutation sites, and the pathogenic variations were verified by PCR-Sanger sequencing. The conservativeness of gene variation sites in the probands was analyzed by UCSC softwares, and the pathogenicity of variation sites was analyzed by using the Varseak and Mutation Taster softwares. Results Convulsions developed in two patients at the age of about 3 years old. Proband 1 was manifested with tonic-clonic seizures, which was controlled by levetiracetam and sodium valproate treatment after being diagnosed as epilepsy and autism spectrum disorder. This proband was detected heterozygous mutation of CHD2 gene c.2877-1＿2877delGCinsAA, which was a splicing receptor mutation. The corresponding base（C） at C.2877-1 and the corresponding amino acid（asparagine） at c.2877 were highly conserved in 13 species. Parental verification and query of human gene database indicated that it was a de novo mutation. The analysis results of Varseak predicted that the mutation would lead to changes in protein sequence and structure, and was possibly pathogenic according to the ACMG classification. Proband 2 was diagnosed with Lennox-Gastaut syndrome, with multiple seizure patterns combined with severe developmental delay. Seizures were controlled after treatment with levetiracetam, while other drugs had poor efficacy. There was a heterozygous mutation of CHD2 gene c.361C＞T（p.Arg121Ter）,which was a nonsense mutation.The 121amino acid（arginine）corresponding to the c.361C＞T mutation was highly conserved in 13species.The mutation was verified as a de novo mutation in the pedigree,Mutation Taster software analysis indicated that it was suspected to be pathogenic mutation,and it was pathogenic according to the ACMG classification.Conclusion The children with epilepsy accompanied by developmental delay and autism spectrum disorder should consider the CHD2 gene mutation,and genetic test contributes to the early diagnosis.

Objective:To explore the clinical manifestations and genetic characteristics of Wolf-Hirschhorn syndrome (WHS) to improve the ability of diagnosis and differential diagnosis of the disease.Methods:The clinical features and auxiliary examinations and treatment of a proband with WHS caused by microdeletion of 4p16.3 segment who admitted to the Third Affiliated Hospital of Zhengzhou University in December 2021 were recorded, and whole exome sequencing (WES) of the family was performed. The prognosis was followed up.Results:The female proband, 11 months old, presented with convulsions at the age of 8 months, with the characteristics of heat sensitivity and cluster seizures, and her identical twin sister had a similar medical history. Physical examination found malnutrition, retarded development, special face, prominent forehead, wide nasal bridge, small jaw, precordial murmur and grade 3/6 murmur in the whole period, hyperactivity of P2, and low limb muscle tone. The whole exon and copy number variation (CNV) test of the family revealed that the proband had a 1.99 Mb heterozygous deletion in the chromosome 4p16.3 segment, including WHSC1 (NSD2), WHSC2 (NEFLA) and other genes. Copy number variation sequencing (CNV-Seq) of the proband and her sister showed 1.97 and 1.92 Mb heterozygous deletion of chromosome 4p16.3, respectively. Genealogical analysis by quantitative polymerase chain reaction revealed that the CNV was de novo, and it was determined to be a pathogenic variant according to the American College of Medical Genetics and Genomics guidelines. The proband took sodium valproate orally, and her sister took oral sodium valproate, zonisamide, and levetiracetam successively, and at the same time they received family rehabilitation training. The age at the last follow-up was 1 year and 8 months. Neither of them had convulsions again in the past 3 months, but the developmental delay was obvious. Conclusion:WHS patients may present with growth retardation, epilepsy, Greek warrior helmet-like special face, and congenital heart disease, and may have microdeletions in the chromosome 4p16.3 segment.

Abstract Objective Defects in RARS2 cause cerebellopontine hypoplasia type 6 (pontocerebellar hypoplasia type 6, PCH6, OMIM: #611523), a rare autosomal recessive inherited mitochondrial disease. Here, we report two male patients and their respective family histories. Methods We describe the clinical presentation and magnetic resonance imaging (MRI) findings of these patients. Whole‐exome sequencing was used to identify the genetic mutations. Results One patient showed hypoglycemia, high lactic acid levels (fluctuating from 6.7 to 14.1 mmol/L), and frequent seizures after birth, with progressive atrophy of the cerebrum, cerebellum, and pons. The other patient presented with early infantile developmental and epileptic encephalopathies (EIDEEs) with an initial developmental delay followed by infantile epileptic spasm syndrome (IESS) at 5 months old, with no imaging changes. Whole‐exome sequencing identified compound heterozygous RARS2 variants c.25A>G (p.I9V) with c.1261C>T (p.Q421*) and c.1A>G (p.M1V) with c.122A>G (p.D41G) in these two patients. Of these loci, c.1261C>T and c.122A>G have not been previously reported. Significance Our findings have expanded the RARS2 gene variant spectrum and present EIDEEs and IESS as phenotypes which deepened the association between PCH6 and RARS2. Plain Language Summary Defects in RARS2 cause cerebellopontine hypoplasia type 6, a rare autosomal recessive inherited mitochondrial disease. Two patients with RARS2 variants were reported in this article. One patient showed hypoglycemia, high lactic acid levels, and frequent seizures after birth, with progressive atrophy of the cerebrum, cerebellum, and Page 3 of 21 Epilepsia OpenFor Review Only pons. The other patient presented with an initial developmental delay followed by refractory epilepsy at 5 months old, with no imaging changes. Our findings deepened the association between PCH6 and RARS2.

目的 观察清醒期、睡眠期婴儿痉挛症(infantile spasms,IS)患儿痉挛发作期间不同频段脑功能网络属性特征路径长度(characteristic path length,CPL)的变化,探讨激素冲击治疗对IS患儿脑功能网络的作用.方法 IS患儿19例(IS组),均行甲泼尼龙或促肾上腺皮质激素冲击治疗;记录IS组激素冲击治疗前、后清醒期、睡眠期、清醒发作期、睡眠发作期脑电图数据,应用matlab软件分析delta、theta、alpha、beta、gamma频段CPL.选取同期行视频脑电图检查结果正常的儿童10例为对照组,比较2组清醒期、睡眠期脑电图delta、theta、alpha、beta、gamma频段CPL.随访1年,观察IS患儿激素冲击治疗后痉挛发作的控制情况.结果 随访1年,痉挛发作完全控制11例,治疗无效8例.激素冲击治疗前IS组患儿清醒期脑电图delta频段CPL[130.79(121.61,144.74)×10-3]高于对照组[128.50(119.11,140.78)×10-3](Z=-2.645,P=0.008),beta、gamma 频段 CPL[89.72(78.65,65 535.00)×10-3、94.22(83.98,65 535.00)×10-3]均低于对照组[107.87(90.37,65 535.00)×10-3、98.33(88.53,65 535.00)×10-3](Z=-9.236,P＜0.001;Z=-3.282,P=0.001);睡眠期脑电图 delta、beta 频段 CPL[129.17(118.06,140.99)×10-3、82.80(74.14,113.68)×10-3]均低于对照组[131.90(122.48,141.69)×10-3、92.38(76.94,65 535.00)×10-3](Z=-2.688,P=0.007;Z=-5.079,P＜0.001).清醒期IS组患儿激素冲击治疗后脑电图beta、gamma频段CPL[94.37(83.64,65 535.00)×10-3、97.98(88.04,65 535.00)×10-3]均高于激素冲击治疗前(Z=-4.503,P＜0.001;Z=-3.611,P＜0.001);睡眠期IS组患儿激素冲击治疗后脑电图beta频段CPL[89.65(79.43,65 535.00)×10-3]高于激素冲击治疗前(Z=-7.311,P＜0.001).IS患儿激素冲击治疗后清醒发作期脑电图delta、alpha、beta、gamma频段CPL[111.73(106.44,117.92)×10-3、110.75(103.97,130.07)×10-3、81.35(74.07,97.43)×10-3、92.61(79.01,65 535.00)×10-3]均低于冲击治疗前[118.16(110.58,130.23)×10-3、115.19(104.83,162.77)×10-3、90.53(76.98,65 535.00)×10-3、96.17(82.78,65 535.00)×10-3](P＜0.05);睡眠发作期脑电图 delta 频段 CPL[116.50(109.31,128.12)×10-3]高于冲击治疗前[113.66(107.56,121.60)×10-3](Z=-4.412,P＜0.001),theta 频段 CPL[131.56(114.90,177.63)×10-3]低于冲击治疗前[153.11(127.55,65 535.00)×10-3](Z=-6.109,P＜0.001).结论 IS患儿清醒期、睡眠期脑电图beta频段传输效率增强,激素冲击治疗可降低发作间期beta频段、睡眠发作期delta频段的传输效率,增强清醒发作期delta、alpha、beta、gamma频段的传输效率,改善脑电图高峰失律、减少高频振荡募集可能.

Objective:To explore the genetic basis for three children with Menkes disease.Methods:The patients were subjected to next-generation sequencing (NGS) to detect potential variants of the ATP7A gene. Suspected variants were verified by Sanger sequencing of their family members and 200 healthy individuals. Multiplex ligation-dependent probe amplification (MLPA) was also carried out to detect potential deletions in their family members and 20 healthy individuals. Results:Variants of the ATP7A gene were detected in all of the three families, including a novel c. 1465A>T nonsense variant in family 1, a novel c. 3039_3043del frameshifting variant in family 2, and deletion of exons 3 to 23 in family 3, which was reported previously. Based on the American College of Medical Genetics and Genomics standards and guidelines, the c. 1465A>T and c. 3039_3043del variants of ATP7A gene were predicted to be likely pathogenic(PVS1+ PM2). Conclusion:Variants of the ATP7A gene may underlay the Menkes disease in the three children. Above findings have facilitated clinical diagnosis and enriched the gene variant spectrum of Menkes disease.

BACKGROUND:Krabbe disease, also called globoid cell leukodystrophy, is an autosomal recessive disease caused by a deficiency of lysosomal galactocerebrosidase. Infantile Krabbe occurring before 12 months of age accounts for most cases. Typical clinical features include irritability, seizures, peripheral neuropathy, and progressive neurodegeneration.METHODS:We collected and summarized the clinical and genetic data of an 8-month-old boy who demonstrated Krabbe disease onset at around 6 months. Potential pathogenic variants were screened by whole exome sequencing, and effects of candidate variants on alternative transcript and truncated protein were further validated at the RNA and protein level.RESULTS:Galactocerebrosidase activity was nearly absent in his blood, and whole exome sequencing revealed compound heterozygous variants [NM_000153.4: (c.658C>T); (c.328+5G>T)] in galactosylceramidase (GALC). The variant c.328+5G>T was predicted to alter splicing, and the abnormal isoform transcript was validated by observation of abnormal RNA isoforms. The variant c.658C>T was predicted to cause truncation of the protein, which was validated by western blotting.CONCLUSIONS:Our findings revealed compound heterozygous variants with solid experimental results for Krabbe disease and provides strong evidence for further Krabbe disease screening and clinical consulting. As a rare inherited systemic disorder, genetic variants in Krabbe disease should be investigated, as experimental validation for clinical diagnosis is needed.

目的 探讨Lesch-Nyhan综合征(Lesch-Nyhan syndrome,LNS)的临床表型和基因突变类型.方法 收集2例LNS家系中先证者的临床资料,包括病史、体格检查及生化检查,抽取先证者及其家系成员外周血,采用二代高通量测序法进行基因检测,并采用Sanger测序法进行位点验证及家系验证.结果 2例先证者围生期无明显异常,均于6个月内出现发育落后,1岁6个月后出现自残行为,血尿酸增高,2例先证者HPRT1基因均存在突变,先证者1为c.609+5G＞A的剪接突变,先证者2为c.212G＞A,p.G71D的错义突变.结论 伴尿酸增高的发育落后患儿应警惕LNS的发生,基因检测有助于该病的早期诊断.

目的:从癫痫患儿的诊疗情况、家庭、教育、免疫接种及社会支持情况多方面了解癫痫患儿的生存现状，分析影响其生存质量的相关因素，以利于癫痫患儿的合理管理。方法:对2019年1月至6月于郑州大学第三附属医院儿内科门诊就诊的癫痫患儿进行问卷式断面研究，用临床资料调查表了解其生存相关资料，同时对符合条件的患儿采用儿童生存质量测定量表(PedsQL)调查其生存质量。结果:起病年龄多在2岁以下(203例，40.1%)，活动性癫痫占86.6%，单药治疗者占50.1%，39.9%伴发育落后，门诊用药可使用医保者仅0.8%，46%的癫痫患儿发病后未再进行免疫接种。癫痫患儿生理、心理、社会、角色及综合质量各维度生活质量平均秩次分别为212.39、211.58、195.67、162.39、196.19，均低于对照组儿童(251.52、253.34、285.15、240.95、284.13)，差异有统计学意义( Z值－3.032、－3.226、－6.939、－6.768、－6.763， P均<0.05)。多元回归分析显示，患儿的发育情况、教育、对家庭经济的影响、免疫接种、发作情况影响其生存质量生理维度( t值分别为7.123、4.16、3.582、2.497、2.401， P均<0.05)；发作、病程、独生子女、对家庭经济的影响、家庭教养方式对其心理维度有影响( t值为3.279、－2.948、－3.253、2.016、－1.975， P均<0.05)；发育、对家庭经济的影响、药物数目、教育情况、家庭情感支持、病程对其社会维度有影响( t值为10.139、3.341、2.842、3.043、2.826、－2.446， P均<0.05)；发育、药物数目、对家庭经济的影响、父母学历、年龄对其角色维度有影响( t值为7.547、3.691、2.799、2.295、－2.106， P均<0.05)；发育、对家庭经济的影响、药物数目、发作、病程对综合质量有影响( t值为9.495、4.364、2.394、3.247、－2.817， P均<0.05)。 结论:癫痫患儿生存现状差、各维度生存质量均低，主要受发育情况、发作、口服药物数目、病程、年龄、教育、对家庭经济影响、是否为独生子女、家庭教养方式、家庭情感支持、父母学历及免疫接种的影响，应受到高度关注，并给予相应干预。

目的 探讨婴儿痉挛症(infantile spasms,IS)经大剂量甲泼尼龙治疗后复发的危险因素.方法 应用大剂量甲泼尼龙治疗、且14 d内中止痉挛发作并持续缓解时间≥28 d的IS患儿78例,根据随访中(12～42个月)是否复发分为复发组30例和未复发组48例,记录患儿性别、发病年龄、头颅MRI、缺氧史、低血糖史、发病前精神、运动发育史、应用甲泼尼龙治疗时的病程、起效时间、泼尼松口服疗程等资料,采用多因素logistic回归分析IS经大剂量甲泼尼龙治疗缓解后复发的危险因素.结果 2组发病年龄、应用甲泼尼龙治疗时病程、起效时间、发病前精神/运动发育史比较差异有统计学意义(P＜0.05);IS非高峰年龄发病(OR=3.224,95％CI:1.148～9.049,P=0.026)、甲泼尼龙起效时间＞7d(OR=3.637,95％CI:1.058～12.506,P=0.040)、发病前精神/运动发育落后(OR=6.109,95％CI:1.063～35.090,P=0.042)是IS经大剂量甲泼尼龙治疗缓解后复发的危险因素.结论 IS非高峰年龄发病、药物起效时间晚、发病前精神/运动发育落后是经大剂量甲泼尼龙治疗缓解后复发的危险因素.

目的 探讨山豆根中毒致儿童中枢神经系统损害的临床特点、治疗及转归，进行相关文献复习，提高临床医生对该病的认识。 方法 收集2014年6月至2019年6月郑州大学第三附属医院儿科收治的15例山豆根中毒致儿童中枢神经系统损害患儿的临床资料，总结其临床特点、头颅MRI结果、治疗方案及预后。 结果 15例山豆根中毒患儿，其中男9例，女6例，年龄3～12岁，8例以消化道症状(恶心、呕吐)起病，7例以神经系统症状(头晕、头痛)起病，所有患儿均出现不同程度的言语不清、失语、视物不清、四肢无力、走路不稳、抽搐及意识障碍等神经系统症状和体征。15例患儿均行头颅MRI检查，2例正常，13例均发现小脑齿状核病变，其中4例合并基底节区病变，1例合并额叶皮层下、脑干及双侧颞叶深部病变。予洗胃、补液利尿、促进代谢、营养神经等治疗后，14例患儿均临床治愈出院，1例遗留肌张力障碍。 结论 山豆根中毒多因超剂量服用，致神经系统损害多累及小脑齿状核及基底节区，行头颅MRI检查可尽早明确诊断，大部分患儿预后良好，一旦出现全身肌张力障碍，临床药物治疗效果不佳，预后不良。

目的 探讨山豆根中毒致儿童中枢神经系统损害的临床特点、治疗及转归,进行相关文献复习,提高临床医生对该病的认识.方法 收集2014年6月至2019年6月郑州大学第三附属医院儿科收治的15例山豆根中毒致儿童中枢神经系统损害患儿的临床资料,总结其临床特点、头颅MRI结果、治疗方案及预后.结果 15例山豆根中毒患儿,其中男9例,女6例,年龄3~12岁,8例以消化道症状(恶心、呕吐)起病,7例以神经系统症状(头晕、头痛)起病,所有患儿均出现不同程度的言语不清、失语、视物不清、四肢无力、走路不稳、抽搐及意识障碍等神经系统症状和体征. 15 例患儿均行头颅MRI检查,2例正常,13例均发现小脑齿状核病变,其中4例合并基底节区病变,1例合并额叶皮层下、脑干及双侧颞叶深部病变.予洗胃、补液利尿、促进代谢、营养神经等治疗后,14例患儿均临床治愈出院,1例遗留肌张力障碍.结论 山豆根中毒多因超剂量服用,致神经系统损害多累及小脑齿状核及基底节区,行头颅MRI检查可尽早明确诊断,大部分患儿预后良好,一旦出现全身肌张力障碍,临床药物治疗效果不佳,预后不良.

Objective To explore the relationship between different mutation characteristics and clinical phenotype of children with Dravet syndrome (DS) with SCN1A gene mutation,and to summarize the drug efficacy.Methods The clinical data of children diagnosed as DS from the Department of Pediatrics Neurology,the Third Affiliated Hospital of Zhengzhou University from January 2014 to May 2018 were collected.The peripheral blood DNA of the children was detected by adopting next generation sequencing for epilepsy-related gene-panel,while the parents' were screened by using Sanger sequencing for family verification.Multiple ligation-dependent probe amplification technology was used to detect large fragment variation of SCN1A gene if the mutations of the children were negative.The Gesell scale and cavity Wechsler intelligence scale for children(C-WISC) were used to evaluate the intelligence of children.Results A total of 50 cases of DS were collected,38 cases of them were positive for SCN1A mutation,and the mutation rate was 76.0％ (38/50 cases),of which,the missense mutation[50.0％ (19/38 cases)] and frameshift mutation[28.9％ (11/38 cases)] were dominant.The average onset age of 50 patients was 6 months,of which onset of seizures was triggered by fever(temperature ＞ 37.5 ℃) in 68.0％ (34/50 cases)of children,the history of seizures in hot baths was found in 60.0％ (30/50 cases) of children,status epilepticus was found in 74.0％ (37/50 cases),cluster-like episodes was found in 80.0％ (40/50 cases),≥2 seizure types was found in 92.0％ (46/50 cases).Mental retardation was found in most of the children,of which 30.0％ (15/50 cases) were mild mental retardation,38.0％ (19/50 cases) were moderate mental retardation,14.0％ (7/50 cases)were severe intelligence retardation.Interictal abnormalities of electroencephalogram(EEG) before 1 year old was found in 24.0％ (12/50 cases),and the average age of EEG abnormalities was 30.12 months old;the top three drug efficacy rates were 70.0％ (28/40 cases) of Topiramate,48.0％ (24/50 cases) of Sodium Valproate,45.7％ (16/35 cases) Clonazepam or Clobazam.The time of onset of myoclonus and atypical absence of the truncation mutation group was earlier than that of the missense mutation group(14.75 months vs.21.20 months;16.82 months vs.26.00 months),and the difference was statistically significant (P ＜ 0.05).The proportion of clustered episodes in the truncation mutation group was higher than that in the missense mutation group [94.7％ (18/19 cases)vs.63.2％ (12/19 cases)],and the difference was statistically significant (P ＜0.05).There was no significant correlation between the SCN1A gene mutation (type and position) and age of onset,type of seizure,proportion of convulsion persistence,the mental development or abnormal proportion of EEG and seizure frequency before 1 year old(all P ＞ 0.05).Conclusions The SCN1A gene mutation rate is high in children with DS,and the SCN1A gene mutation characteristics has a certain correlation with DS clinical phenotype.Topiramate is the most effective drug among children with DS.

目的 分析新生儿低血糖的临床特点,提高临床医生对新生儿低血糖认识.方法 收集2015年12月-2017年3月在郑州大学第三附属医院新生儿科住院确诊早期新生儿低血糖的207例患儿临床资料,并对其临床特点进行分析总结.按1∶1的比例随机选取同期在新生儿科住院的血糖正常的早期新生儿207例为对照组.结果 早产、剖宫产、新生儿窒息、新生儿感染、低出生体重、小于胎龄儿、妊娠期糖尿病为新生儿低血糖高危因素.207例病例中,合并单一危险因素的有29例(14.01％),2种危险因素45例(21.74％),3种61例(29.47％),4种37例(17.87％),5种17例(8.21％),6种6例(2.90％),7种5例(2.42％);中、重度低血糖患儿(分别为142例、27例)中正常体重新生儿所占比例分别为50.70％、44.44％,低出生体重的患儿所占比例分别为39.44％(56例)、48.15％(13例).结论 ①高危因素数量与低血糖发生率呈非正相关;②出生体重可能与低血糖严重程度有关;③加强有高危因素患儿的血糖监测,及时采取预防措施纠正低血糖.

Objective To observe the expression of nucleotide-binding oligomerization domain-like recep-tor protein 3(NLRP3)inflammasome in epilepsy model,and to explore the neuroprotective effect of melatonin. Methods SD rats aged 21-30 d were randomly divided into the control group(48 rats),the epilepsy group(48 rats)and the melatonin group(48 rats),and each group was subdivided into 4 subgroups according to the time points of 24 h,48 h, 72 h,and 7 d,with 12 SD rats in each subgroup. Fluorescence quantitative polymerase chain reaction and immunohisto-chemical technique were used to analyze the expressions of NLRP3,Caspase-1 and interleukin(IL)-1β in hippocam-pus areas of rats at different points of time after seizures were induced,and their behavior changes were observed. Results The number of NLRP3-positive cells in the epileptic group increased,and reached the peak at 72 h. At 24 h,48 h,72 h,7 d,the number of NLRP3-positive cells in the epilepsy group(14. 20 ± 1. 64,23. 60 ± 1. 14,31. 20 ± 1. 30,25. 40 ± 2. 07)was significantly increased compared with those of the melatonin group(10. 60 ± 0. 89,17. 80 ± 1. 48,24. 00 ± 0. 71,20. 20 ± 1. 92)and the control group(2. 60 ± 0. 89,2. 40 ± 1. 14,2. 40 ± 1. 14,2. 40 ± 0. 55),and the differences were significant(F＝122. 977,375. 125,962. 743,262. 916,all P＜0. 05). The NLRP3 mRNA relative expressions in the epilepsy group (2. 57 ± 0. 12,3. 34 ± 0. 10,4. 84 ± 0. 19,3. 55 ± 0. 13)were significantly increased compared with those of the melatonin group (2. 03 ± 0. 08,2. 71 ± 0. 08,4. 03 ± 0. 14,2. 48 ± 0. 18)and the control group(1. 07 ± 0. 13,1. 08 ± 0. 15,1. 08 ± 0. 23,1. 07 ± 0. 18),and the differences were significant (F ＝422. 386, 1 154. 957,1 132. 112,512. 149,all P ＜0. 05);the Caspase -1 mRNA relative expressions in the epilepsy group (2. 47 ± 0. 07,3. 05 ± 0. 15,4. 39 ± 0. 18,3. 14 ± 0. 11)were significantly increased compared with those of melatonin group(1. 85 ± 0. 07,2. 49 ± 0. 08,3. 60 ± 0. 12,2. 15 ± 0. 12)and the control group (0. 98 ± 0. 25,0. 99 ± 0. 15,0. 98 ± 0. 23,0. 99 ± 0. 18),and the differences were significant(F ＝620. 099,580. 796,1 125. 225,645. 082,all P ＜0. 05);the IL-1β mRNA relative expressions in epilepsy group (2. 32 ± 0. 15,2. 90 ± 0. 18,4. 18 ± 0. 16,2. 74 ± 0. 07)were significantly increased compared with those of the melatonin group (1. 78 ± 0. 09,2. 35 ± 0. 11,3. 24 ± 0. 13,1. 78 ± 0. 16)and the control group(0. 97 ± 0. 13,0. 99 ± 0. 15,0. 97 ± 0. 23,0. 97 ± 0. 18),and the differences were significant(F＝267. 952,398. 767,1 140. 384,438. 962,all P ＜0. 05). Conclusions The NLRP3 inflamma-somes are activated in rat hippocampus with epilepsy induced by lithium-pilocarpine. NLRP3 inflammasome mediated inflammatory response probably involved in the pathogenesis of epilepsy. The melatonin may play a neuroprotective role by inhibiting expression of NLRP3 inflammasome.

Objective To compare the efficacy of adrenocorticotrophic hormone (ACTH) and methylprednisolone on the rat models of infantile spasms (IS).Methods The SD rats on postnatal 10 day (P10) were divided into blank group (n =18),control group (n =18) and model group (n =110) according to the random number table method.The rats of model group were prepared by adopting prenatal stress exposure and N-methyl-D aspartate (NMDA) injection.In the model group,after inducing epileptic seizures,the rats were divided into different groups (18 rats in each group) according to the random number table method as following:model group Ⅰ (subcutaneous injection ofACTH,50 IU/kg,at P10:14:00,21:00;P11,P12:7:00,14:00,21:00;P13:7:00),model group Ⅱ (subcutaneous injection of 9 g/L saline),model group Ⅲ (intraperitoneal injection of methylprednisolone,60 mg/kg,at P11,P12,P13:9:00,once per day),model group Ⅳ (intraperitoneal injection of 9 g/L saline) and model group Ⅴ (positive control group,with no drug or saline injection).Three days later,epilepsy was induced again,and the rats of model group were intraperitoneally injected with NMDA (12 mg/kg) at P13 (10:00).The rats of control group were injected intraperitoneally with same volume of 9 g/L saline,but the rats of blank group were not treated.Behaviors of rats with epilepsy seizures were observed and epilepsy scores were given.The expression of corticotropin-releasing hormone (CRH) in the hypothalamus of each group was detected by using immunohistochemistry and fluorescence quantitative polymerase chain reaction.The learning and memorizing capacity of the rats were measured by Y-maze experiment.Results There was no death in the model group after the onset of seizure.In the model group Ⅰ,13 cases were attacked(72.22％),and 14 cases were attacked in the model group Ⅲ (78.78％).The level of attack was decreased.The buckling state was not observed in model group and Ⅲ,but the latency period of epilepsy was prolonged and the epilepsy scores were significantly decreased.There were no significant differences of onset latency [(2 369.38 ± 628.70) s vs.(1 922.93 ± 462.36) s] and epilepsy score [(2.15 ± 1.14) scores vs.(2.07 ± 0.83) scores] between the 2 groups (all P ＞ 0.005).The rats of model group Ⅱ,Ⅳ,Ⅴ were all attacked completely and presented buckling state.There was no onset or death in blank group and control group.The number of CRH positive cells and CRH mRNA relative expression of each model group were higher than those in the blank group and control group.The number of CRH positive cells and CRH mRNA expression of model group Ⅰ and Ⅲ were lower than those in model group Ⅱ,Ⅳand Ⅴ,and the differences were significant (all P ＜ 0.002 4).There was no significant difference in the number of CRH-positive cells(39.12 ± 5.98 vs.41.48 ± 7.61) and CRH mRNA relative expression (1.92 ± 0.16 vs.2.06 ± 0.39) between model group Ⅰ and Ⅲ (all P ＞ 0.002 4).No significant difference was found between blank group and control group,or among model group Ⅱ,Ⅳ and Ⅴ (all P ＞ 0.002 4).There were no significant differences in the learning capacity among all groups (F =2.196,P ＞ 0.002 4).The correct response rate after 24 hours of the model group was lower than the blank group and control group,and ACTH and methylprednisolone pretreatment did not influence the memorizing capacity (P ＞ 0.002 4).Conclusion The effect of pretreatment of ACTH is similar to that of methylprednisolone in the rat model of IS.

目的 探讨共刺激分子OX40/OX40L和IL-17在病毒性脑炎中表达的意义。 方法 采用酶联免疫吸附实验(ELISA)检测30例病毒性脑炎和30例非神经系统感染及排除自身免疫性脑炎患儿(对照组)脑脊液中IL-17及血清中可溶性OX40L(sOX40L)水平，并分析其指标在患儿脑脊液及血清中的含量及临床意义。 结果 病毒性脑炎患儿血清中sOX40L为(531.95±85.78)ng/L，与对照组相比，差异无统计学意义(P>0.05)；病毒性脑炎患儿脑脊液中IL-17为(24.87±6.21)ng/L，与对照组相比，差异有统计学意义(P<0.05)。 结论 病毒性脑炎患儿脑脊液中IL-17可能参与其病理生理过程；而血清中sOX40L可能未参与病毒性脑炎的发病过程。