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+.

?AlM: To investigate the clinical characteristics and influencing factors of chronic renal failure ( CRF) patients with dry eye, and to provide clinical reference.?METHODS:Sixty-one cases (122 eyes) of patients with CRF ( CRF group ) and 61 cases ( 122 eyes ) of healthy persons ( control group) were carried out on Schirmer ▏test ( S▏t ) , break-up time of tear film ( BUT ) , corneal fluorescein staining ( FL) , test results of two groups were compared and related factors of dry eye in CRF patients were analyzed.?RESULTS: The results of S▏t and BUT in CRF group were lower than that in the control group (P<0. 05). The proportion of tear secretion reduce in CRF group ( S▏t<10mm/5min) was 49. 2% ( 60/122 ), which was higher than that in the control group ( 10. 0%, 12/122 ), the difference was statistically significant ( X2 = 45. 39, P <0. 05). The percentage of instability of tear film in CRF group (BUT≤10s) was 75. 4% (92/122), which was significantly higher than that in the control group (27. 0%, 33/122) (X2=57. 1, P<0. 05). The positive rate of corneal FL was 37. 7% (46/122), which was higher than that of the control group (10. 7%, 13/122), there was a statistically significant difference (X2= 24. 34, P<0. 05).?CONCLUSlON:CRF patients with a decrease in tear film stability and tear secretion are susceptible population to dry eye, clinically should be paid attention to the treatment.

Abstract? AIM: Through the establishment of penetrating keratoplasty model of rats, to detect the role and its mechanism of immature dendritic cells with IL-10 gene modified.? METHODS: Allogeneic penetrating corneal transplantation in rat model was performed. SD rats were randomly divided into positive control group, GFP-DC group, 8-DC and IL-10-GFP-DC group.At 3d before keratoplasty, the rats were given tail intravenous injection with the same amount of PBS, bone marrow 8-DC ( DC had cultured for 8d ) from donor Wistar rats, GFP-DC after 48h transfection and IL-10-GFP-DC.Rats were observed under slit-lamp for corneal graft cases every day, and recorded rejection index and corneal graft survival time.At 14d after keratoplasty, pathologic and immunohistochemical examinations were performed.?RESULTS:Compared with GFP-DC group and 8-DC group, corneal graft survival time of IL-10-GFP-DC group was significantly longer ( P<0.01 ); at 14d after keratoplasty, corneal opacity, edema, neovascularization and rejection index of IL-10 -GFP-DC group were significantly lower (P<0.01).Pathological examination showed that in the three experimental groups corneal inflammation was lighter than the positive control group without significant central graft neovascularization. Immunohistochemistry showed: compared to the positive control group, GFP-DC group and 8-DC group, CD4+, CD8+, CD25+, IL-2+, NK+and NF-κB+positive cells in IL-10-GFP-DC group were lower(P<0.01).? CONCLUSION: After donor -derived immature dendritic cells pretreated, corneal graft survival was significantly prolonged, successfully induced corneal transplantation tolerance. CD4+, CD8+, CD25+, IL-2+, NK+and NF-κB+positive cells are involved in corneal allograft rejection regulation, IL-10-GFP-DC may reduce CD4+, CD8+, CD25+, IL-2+, NK+and NF-κB+positive cell infiltration, inhibit corneal transplant rejection.

Adult ; Female ; Humans ; Occupational Diseases ; Plastics ; Trimethyltin Compounds ; poisoning ; Waste Management

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.

Objective To obtain acquired immunity evidence in hamsters elicited by third stage hookworm larvae of Necator americanas(NaL3).morphology changes of NaL3 and inflammatory responses in the skin and undedying subcutaneous tissue and muscles of hamsters were observed.Methods Hamsters were immunized subcutaneously with one dose of 150 NaL3 at 2 weeks earlier,and then challenged pereutaneously with 900 NaL3.Skins were excised from post-challenge hamsters at 6,24,72 hours and 1,2 weeks,and then examined under light microscopy.Non-immunized hamsters served as negative controls.Results In non-immunized hamsters the number of NaL3 were 15,33,11.0 and 0 at 6,24,72 hours and 1,2 weeks post-infection.No damaged or dead NaL3 section was observed.All NaL3 exhibited no structural damage and infihrating inflammatory cells were absent from the sunDunding tissues.There were no cutaneous changes.In contrast.the total number of Nak sections in the skin of immunized hamsters were 25,53,15,5 and 4 at 6,24,72 hours and 1,2 weeks post-challenge.Among these NaL3 sections,damaged and dead section number were 0,24,6,0,0 and 0,0,7,5,4.At 24 hours post-challenge the Nak exhibited cutieular swelling and damage.By 72 hours post-challenge pyknosis of the somatic cells nuclei and sparseness or loss of definition in the internal structures of NaL3 were seen.One or two weeks after chanenge,the NaL3 showed severe damage or even dead with remnants.Inflammatory responses including macrophages,epithelioid cells and eosinophils infiltrating and granulomata forming were mainly seen around the NaL3 sections in the skin of immunized hamsters.Conclusions Hamsters initially immunized with NaL3 exhibited obvious acquired immunity protection against percutaneously challenged infection as evidenced by vigorous inflammatory responses in the skin and underlying subcutaneous tissue and muscle.

0.05).②The total positive ratio of PI in ICH was 73.1%.PI was the most sensitive when the position located in the basal ganglia (83.3%) or the volumes of lesions were more than 20 ml (80.0%—88.9%),but was low when the volumes less than 20 ml or the position near the midline.③In the patients with [CH,PI of the hematoma side initially was lower and finally higher than contralateral one.The average transitional time was (19.67? 11.52) h.The ipsilateral PI after the transitional time was much higher than that before the transitional time in the same patients(P

Objective Application of the second metatarpophalangeal joint by traction prolong trans- plant repair the defects in the metacarpophalangeal joint,reconstruct the function of it.Methods By means of the apparatus to prolong finger in advance,then transplant the second metatarpophalangeal joint to recon- struct metacarpophalangeal joint for seven cases of obsolete defects in the metacarpophalangeal joint.Results The average of finger prolong was 2.6 cm,consultation from 1 to 4 years.average 2.5 years,thai the trans- plant joints have all survived and osteal concrescence.Through the criterion Chinese Medical Association,good rate was 85.7%. Conclusion It' s a good method to repair obsolete defects in the metacarpophalangeal joint by transplant traction prolong of the second metatarpophalangeal joint.