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Objective To investigate the change of auditory brainstem response (ABR) in high-risk children and the relationship between ABR and zentrale koordination-storung (ZKS).Methods Two thousands four hundred and eighty-five high-risk infants were followed up to 1 year old,of which 1246 cases were measured with the ECLTPSE auditory brainstem response analyzer,the relationship of ABR and ZKS were analyzed.Results ZKS incidence of ABR abnormal group was significantly higher than that of the ABR normal group (P ＜ 0.01).The ABR waveform of ZKS group compared with those of non-ZKS group:Ⅲ,Ⅴ wave latency were longer,Ⅰ-Ⅴ and Ⅰ-Ⅴ peak interval were longer,the differences were significant (all P ＜ 0.05).Conclusions ABR has important clinical value in high-risk neonatal follow-up and assisting diagnosis ZKS,and auditory pathway damage of ZKS is more common in the parts of above the brainstem superior olivary nuclear.
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Objective To investigate the clinical significance of generalized epilepsy with febrile seizures plus(GEFS+ ). Methods The data of one family with GEFS+ were retrospectively analyzed by studying clinical manifestations, physical examinations, electroencephalogram(EEG), 24 hours dynamic EEG monitoring, et al. Some of the patients were examined by CT. Results Ⅳ 12, her chief complaints when admitted to hospital were frequent spasm for 3 days. She began to appear febrile seizures (FS) from 8 months after birth, and frequent generalized tonic - clonic FS appeared during that time. There were 36 people in 5 generations of the family including 14 patients (8 males and 6 females) ,aged from 4 years and 5 months to 82 years. FS presented in 8 cases (Ⅱ 2, Ⅲ1, Ⅲ4, Ⅲ6, Ⅳ1, Ⅳ11, Ⅳ17, Ⅴ2),febrile seizures plus(FS +) in 4 cases ( Ⅳ2, Ⅳ12, Ⅳ13, Ⅳ14), ES + and absence seizures in 1 case ( Ⅴ1 ), uncertain type in 1 case (Ⅰ2). The results of EEG indicated that 12 cases were normal and 4 cases with FS+ and 1 case with absence seizures had epileptic discharges. Apart form Ⅳ13, Ⅳ14 who were treated with magnesium valproate, the dosage for the other patients decreased, or medicine terminated or without medicine, and all the patients had no recurrence of seizures. The intelligence, movement development and neurological examinations of the family were all normal. Head CT scan of 3 cases were normal. Conclusions GEFS+ is autosomal dominant inheritance disease with conspicuous genetic heterogeneity and phenotypic heterogeneity. The apprehension of GEFS+ plays an important role in diagnosis and differential diagnosis of epilepsy in childhood.
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Objective To explore the mutation of voltage-gated sodium channel ?1 subunit(SCN1B)gene in Chinese Han families with generalized epilepsy with febrile seizures plus(GEFS+).Methods Two families pedigrees were established and disease history,physical examination were collected in order to analyze the mode of inheritance.The mutation sites of reported SCN1B gene exon 3-(C46T,G47A,C156G)were detected by polymerase chain reaction sequence special primers(PCR-SSP)method after genomic DNA were extracted.Results There were 13 patients in the 2 families,all were Han people and 9 cases were living.The results showed the mode of inheritance basically corresponds with autosomal dominant inheritance complicated with incomplete penetrance,and leaded to different kinds of phenotype.The mutation sites of SCN1B gene exon 3 were detected by using PCR-SSP method,and heterozygote was not found,and point mutations were also not found in the 2 families.Conclusions GEFS+ is a complex disorder with genetic heterogeneity.There were no gene mutations of SCNIB in the 2 GEFS+ families,which might suggets the possibility of insufficient samples as the patients came from Henan province and the possibility of differences from races and regions of other countries.
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Objective To collect the families with generalized epilepsy with febrile seizures plus(GEFS+) and analyze the clinical status and heredity features of Chinese GEFS+.Voltaged-gated sodium channel ?1 subunit(SCN1B) gene of 2 families were detected,and expect to find new mutation sites.Methods All participant in the study of 2 families members were informed of voluntary participate in this investigation,health examination and blood sampling.All 6 gene exons of proband,patients and healthy control group were sequenced.The sequencing result was compared and analyzed with the normal sequence of genomic exon fragment and exon fragment sequencing result of control group through internet(BLAST).Results 1.A new G/A heterozygous polymorphism (G181A)was found in the 181th basyl of SCN1B gene exon 3,and codon was changed from TCG to TCA,both encoding serine (Ser,S).It was synonymous mutation.2.A new G/A heterozygous polymophism(G15A)was found in the 15th basyl of SCN1B gene exon 3,and codon was changed from GAG to GAA,both encoding glutamic acid(Glu,E).It belonged to synonymous mutation.3.A new T/C heterozygous polymorphism (T37C)was found in the 37th basyl of SCN1B gene exon 6.The patients genetype were:5 cases with T/C heterozygote,3 cases with T/T homozygote,2 cases with C/C homozygote.Healthy control group were all T/T homozygote.Allele frequency distribution for T was 55.0%,and 45.0% for C.4.A new A/C heterozygous polymorphism (A81C)was found in the 81th basyl of SCN1B gene exon 6.The patients genetype were:5 cases with A/C heterozygote,3 cases with A/A homozygote,2 cases with C/C homozygote.Healthy control group were all A/A homozygote.Allele frequency distribution for A was 55.0%,and 45.0% for C.Conclusions Two new heterozygous polymorphism (G181A),(G15A) were found in SCN1B gene exon 3.Two new heterozygous polymorphism (T37C),(A81C) were found in SCN1B gene exon 6.These 4 polymorphism enriched single nucleotide polymorphism(SPN) database and provided candidate sites for the research of epilepsy susceptbility polymorphisms.
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0.05).Conclusions Early injection of L-carnosine would not only improve cerebral oxidative phosphorylation,relieve neuronal injury of repeated FS,but play a role in the protection of neuronal cells.
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To introduce the writing techniques for structured Abstract of literature review papers based on the knowledge of corpus linguistics,so as to summarize the stylistic,structural,syntactic and lexical characteristics,objectively and systematically.This research will also faci-litate the authors and translators,who have difficulties in writing structured English Abstract,to publish their articles via mastering its stylistic characteristics,writing format and language.
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Objective To explore the effect of L-carnosine on neuronal cell apoptosis in young rats with experimental febrile seizures(FS).Methods Forty 15-day SD rats were randomly divided into intervention group(n=30)and FS group(n=10).Warm water was used to induce 10 times FS.The intervention group was divided into E,G and H group,10 rats in each group.Intraperitoneal injection of L-carnosine(250 mg/kg)was separately given to the rats in E group,G group and H group respectively after 30,60 and 120 min of seizure.FS group were induced FS,but they were not given intervention.The rats were sacrificed at 12 hours after the last seizure.Neuronal cell apoptosis was determined by terminal eoxynucleotidyl transferase-mediated dUTP nick end labeling(TUNEL)in situ cell death kit.TUNEL positive cells were stained and counted as apoptosis in hippocampus and cortex.Ultrastructural changes of apoptosis neurons were observed under the electron microscope.Results The neuronal cells apoptosis count was 25.37?1.95 in FS group,12.36?1.13 in E group,17.85?2.04 in G group,and 22.69?2.69 in H group.Neuronal apoptosis of FS group was apparently higher than that of interventional groups(F=10.75 P0.05).Under the electron microscope,neuronal damage on hippocampal CA1 area and dentate gyrus of FS group and H group was obviously higher than that of E group.Conclusions Early injection of L-carnosine would not only relieve neuronal apoptosis of repeated FS,but also play a role in the protection of neuronal cells.
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Objective To analyse the follow-up of one family with generalized epilepsies with febrile seizures plus (GEFS +).Methods We conducted a family with GEFS + by sexs,ages, seizure manifestation,electroencephalogram (EEG),and so on.Results There were 36 people in 5 generations of the family in all,including 14 patients(8 cases were male and 16 cases were female).Their ages were from 4 years and 5 months to 8 years.There were 8 cases febrile seizures (FS),4 cases with FS + and 1 case with FS + and absence seizures in 13 patients except 1 case without adequate knowledge.The Results of ECG indicted that 12 cases were normaland 4 cases with FS + and 1 case with absence seizures had epileptic discharges.Conclusions GEFS + is a common kind of inherited epilepsic syndrome and occur in childhood.So it is greatly important for epileptic children to know GEFS +
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Generalized epilepsy with febrile seizures plus(GEFS+) is a new epilepsy syndrome proposed by International League Against Epilepsy.At present,the progress of genetic studies of GEFS+ focus on gene mapping based on family analysis,many researches indicate that GEFS+ is associated with voltaged-gated sodium channel(SCN) gene mutation.This paper intends to discuss the relationship beween GEFS+ and SCN1B,SCN2B,SCN1A,SCN2A genes,mutations in order to improve the cognition about GEFS+.
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Objective To investigate the changes and significance of concentration of soluble intercellular adhesion molecule-1(sICAM-1) in cerebrospinal fluid (CSF) of bacterial meningitis(BM) in rabbits. Methods A total of 36 rabbits were randomly divided into m eningitis group, meningitis cefotaxime-treated group and control group. BM indu ced by escherichia coli(Ec) via cerebellomedullary cistern inoculated. Normal sa line was injected in control group. CSF was sampled in different time. The conce ntration of CSF sICAM-1 was detected by ELISA.Results 1.There was a low concentration of sICAM-1 in CSF in 85 percent of normal rabbi ts.2.In meningitis group, there was a sharp rise in the concentration of CSF sIC AM-1 at 6 hours after Ec was inoculated, reached a peak level at 12 hours, and t here was higher concentration of CSF sICAM-1 between 6 and 24 hour than that at 0 hour.3.In meningitis cefotaxime-treated group, the concentration of CSF sICAM -1 at 6 hour and 12 hours was similar to meningitis group, the time that get pe ak level was at 24 hours that at 12 hours after making use of antimicrobial agen t.The peak level was higher than meningitis group. The concentration of CSF sICA M-1 decreased markedly at 48 hours that made use of antimicrobial agent 36 hour s later,but the concentration was still higher than the peak level of meningitis group.Afterwards, with the time of making use of antimicrobial agent lengthened ,the concentration of CSF sICAM-1 decreased gradually.4.Experimental results in dicated by correlating analysis to these data that there was positive correlatio n in the concentration of CSF sICAM-1 with the brain water content.Conclusions sICAM-1 participates in the pathological process of BM, and contributes to the damage of blood brain barrier and the formation of brain edema.There is importan t significance that drugs which can resist the discharge of sICAM-1 will be impl ied. J Appl Clin Pediatr,2005,20(2):163-165