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.

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+.

OBJECTIVE To investigate the distribution features and clinical significance of allergens in patients with chronic rhinosinusitis(CRS). METHODS A retrospective analysis was performed in 136 cases of CRS. Allergen features were compared in the two subtypes of CRS: chronic rhinosinusitis with nasal polyps(CRSwNP) and chronic rhinosinusitis without nasal polyps(CRSsNP). Differences of allergens features of CRS were analyzed, and they were compared to the allergens of 36 patients with allergic rhinitis(AR). RESULTS The total allergen positive rate in CRS was 48.5％. The allergen positive rate, distribution proportion of inhaled and food allergens, distribution proportion of allergens subsets, distribution proportion of single and multiple allergens between two subtypes of CRS had no significant difference(P >0.05). The major allergens of CRS were single inhaled allergens(84.8％). Some CRS patients were allergic to food allergen(9.1％). The minority allergens of CRS were a mixture of inhaled and food allergens(6.1％). Compared to AR, the distribution proportion of inhaled and food allergens(χ2=14.801, P =0.001), the distribution proportion of allergens subsets(χ2=12.951, P=0.005), and the distribution proportion of single and multiple allergens(χ2=9.067, P=0.003) had significant difference. CONCLUSION The allergen positive rate of CRS is much higher than the prevalence of allergic diseases in general population, suggesting that allergic factors may be closely correlated to the pathogenesis of CRS. The clinical features of allergens are similar in the two subtypes of CRS, while there are significant differences in allergen distribution between CRS and AR patients. The detection of allergens may be helpful in prevention and treatment of CRS.

Baculoviral IAP(inhibitor of apoptosis protein) gene was identified firstly in IAP gene family.The structurcal feature of baculoviral IAP genes are characterized BIR and RING domain;Despite similar to P35 in antiapoptotic function,baculovrial IAP and P35 differ in structure and mechnism of action.Phylogenetic analysis of IAP genes and lots of evidence sppport the origin of this viral gene by capture of a host gene early in the evolution of Lepidoptera.

ObjectiveTo study neural protective effect of combined medication with nimodipine and mannitol on injury of cerebral ischemia-reperfusion for screening the better medication method in acute cerebral ischemia-reperfusion. MethodsA model of cerebral ischemia-reperfusion was performed by clipping bilateral common carotid artery of rats with vago- and releasing them 3 hours later. 40 Wistar female rats within 1 month were divided into 5 groups randomly with 8 rats each: model group (no use of medicine), nimodipine group(0.2mg/kg), mannitol group(0.5g/kg), nimodipine and mannitol group, sham-operated group (no use of medicine and no clipping process). The changes of SOD and MDA in brain tissue were measured 24 hours after cerebral ischmic reperfusion in all groups. At the same time pathologic study was performed to compare the different groups.ResultsThere were significant differences between nimodipine and mannitol group and other groups in changes of SOD, MDA and pathological changes(P<0.01). Conclusions Combined medication with nimodipine and mannitol is the better way to protect brain tissue from acute cerebral ischemia-reperfusion than other way in present experiment, by synergistic action.

Baculovirus DNA polymerase gene belongs to an early gene of baculovirus. It is a necessary gene required for replication of virus in insect cells. It can encode DNA polymerase induced by virus. In the process of replication, DNA polymerase can bind to homologous regions and non-homologous regions, which are believed to act as the origins of virus DNA replication with other replication factors. In addition, DNA polymerase has advantages over occlusion protein and egt gene for resolving deep branching taxonomic relationships of baculovirus phylogenies.

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.

Critical Care ; Critical Illness ; Emergencies ; Female ; Humans ; Infant ; Infant, Newborn ; Intensive Care Units, Pediatric ; Male ; Retrospective Studies ; Transportation of Patients

AIM:To remark the effect of Qingguang'an Ⅱ on expression of PAX6, Ngn1, and Ngn2 mRNA of rats with chronic high intraocular pressure.METHODS:Totally 40 male SD rats were randomly divided into 6 groups, that was:A:blank group, B:model group, C:Qingguang'an Ⅱ low dose group, D:Qingguang'an Ⅱ moderate dose group, E:Qingguang'an Ⅱ high dose group, F:Yimaikang disket group.B, C, D, E, F groups of experimental rats were established the model of chronic high intraocular pressure (IOP) by cauterizing of superficial scleral vein.Animal model was established successfully by using monitoring IOP consistently keep above 25mmHg for 8wk as cut-off criterion.Tissues of Eyes were obtained after intragastric administration for 2wk and 4wk.The expressions of PAX6, Ngn1, and Ngn2 mRNA were investigated by Real-time PCR.RESULTS:At the time-point of 2wk, PAX6, Ngn1, and Ngn2 mRNA in group B were statistically expressed in lower level comparing with other groups (P<0.05).Moreover, at the time-point of 4wk, PAX6, Ngn1, and Ngn2 mRNA in group C, D and E were statistically expressed in higher level comparing with group F (P<0.05).Besides, PAX6, Ngn1, and Ngn2 mRNA in group C and D were statistically expressed in lower level comparing with group E (P<0.05).PAX6, Ngn1, and Ngn2 mRNA in group C and D were expressed in similar level(P>0.05).CONCLUSION:In summar, Qingguang'an Ⅱ and Yimaikang disket can remarkably increase the expressions of PAX6, Ngn1, and Ngn2, which suggest protecting the optic nerve of rats caused by chronic high IOP.What's more, this study indicated that, in the protection of optic nerve of rats with chronic high IOP, the high dose of Qingguang'an Ⅱ at the time-point of 4wk was the better choice.