Objective To investigate the association between gene polymorphism of sortilinrelated receptor 1 (SORL1) and Alzheimer' s disease by detecting a series of single nucleotide polymorphisms (SNPs).Methods The Snapshot method was used to genotypc 6 SNPs (SNP10,19,23,24,25,27) in SORL1 and the distributions of allele and genotype of the 6 SNPs were compared between AD patients and healthy control individuals.Results There were significant differences in the genotype distributions of SNP19,23,24 and 25 between AD patients and control group (all P＜0.01).Subjects with TT genotype in SNP19 had significantly lower risk for AD and was protective for AD (OR=0.089,95％CI:0.011-0.718,P＜0.01).The AT genotype in SNP23 (OR＝3.826,95％CI:1.388～10.544,P＜0.01),CT genotype in SNP24(OR=5.935,95％CI:1.774-19.853,P＜0.01)and CT genotype in SNP25(OR=5.754,95％CI:2.007-16.496,P＜0.01)had higher risks for AD.Conclusions SORL1 gene variants of SNP19,23,24 and 25 might be the important risk factors for late-onset AD.

OBJECTIVETo explore the expression and clinical significance of T cell immunoglobulin mucin (TIM)-1, TIM-3 and T cell-specific transcription factors T-bet and GATA-3 in spleen mononuclear cells in patients with primary immune thrombocytopenia (ITP).

METHODSThe spleen samples were obtained from 17 active ITP patients and 10 controls with spleen traumatic rupture. By using real-time quantitative polymerase chain reaction, the mRNA expressions of TIM-3, TIM1, T-bet and GATA-3 were studied in all subjects.

RESULTSTIM-3 mRNA levels of active ITP patients were significantly decreased to (29 ± 16)% of that of control, TIM-1 mRNA levels of active ITP patients increased to (3.20 ± 2.18) folds of that of control, but the difference was not significant. The ratio of TIM-1/ TIM-3 was elevated in active ITP patients. T-bet mRNA levels were up-regulated in ITP patients by (2.82 ± 1.57) folds (P<0.05) and the expression of GATA3 was decreased by 14% folds (P<0.05) compared to controls. The ratio of T-bet/GATA3 were significantly elevated in ITP patients.

CONCLUSIONThe imbalance between TIM-3 and TIM-1 expression might play an important role in pathogenesis of ITP.

Adolescent ; Adult ; Aged ; Aged, 80 and over ; Case-Control Studies ; Female ; Flow Cytometry ; GATA3 Transcription Factor ; metabolism ; Hepatitis A Virus Cellular Receptor 1 ; Hepatitis A Virus Cellular Receptor 2 ; Humans ; Male ; Membrane Glycoproteins ; metabolism ; Membrane Proteins ; metabolism ; Middle Aged ; Purpura, Thrombocytopenic, Idiopathic ; immunology ; metabolism ; RNA, Messenger ; genetics ; Receptors, Virus ; metabolism ; Spleen ; metabolism ; Th1 Cells ; immunology ; Th2 Cells ; immunology ; Young Adult

Cerebellar Neoplasms ; Cerebellopontine Angle ; pathology ; Ear Neoplasms ; Hemangioblastoma ; Humans ; Male ; Young Adult

Ulcerative colitis (UC) is a chronic non-specific disease of the rectum and colon. The disease cause is still unclear. Due to the repeated episodes of UC, the treatment is very difficult. There are serious impact on pa-tients' life and work. According to the current UC condition and existed problems with Chinese medicine treat-ment and in combination with experiences of new Chinese medicine drug development of the author, a new Chi-nese medicine drug research idea of UC has been proposed. It includes the establishment of UC animal model in line with the characteristics of Chinese medicine and the selection of appropriate clinical treatment targets.

Objective To screen the mutations of MYOC gene in a Chinese primary open angle glaucoma (POAG) family from Cbengqing and investigate the relationship between the mutations in MYOC/TIGR gene and POAG.Methods In a large 4-generation glaucoma family, myocilin gene (MYOC) was screened in 39 family members, 8 of which were confirmed patients. Normal controls included 100 normal Chinese subjects.The known mutations of MYOC gene ( including G34C, C136T, G144T, G227A, C624G,G736A, C1009G, A1036G, C1081T, G1099A, G1138A, A1139C, T1430A, C1441A and C1442T) were detected by single strand conformation polymorphism(SSCP) , po]ymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) analysis and DNA sequencing.Results G227A mutation was detected in 2 POAG patients and 1 asymptomatic patient, but not in the controls.Cl009del mutation was identified in all patients of the pedigree and an offspring member but not in the controls. No other mutations were detected.Since the C1009del mutation was revealed for the first time, a new GenBank number FJ237047 correponding to ACI62293 was applied.Conclusions The G227A mutation is a known site and there is no relationship between G227A mutation and glaucoma. But C1009del may be related to glaucoma which suggests that morbidity could be higher in the relatives of POAG than the controls.

Objective:To clone and express the Staphylococcus aureus Efb(extracellular fibrinogen-binding protein) protein in Escherichia coli, to purify the expression product and prepare its functional antibody and to detect the functions of Efb protein for further studies on S.aureus infection.Methods: Efb gene was amplified by PCR using S.aureus NCTC-8325 genome DNA as template and cloned into the recombinant expression vectors pET28a. E.coli BL21(DE3) with the plasmid was induced with IPTG for protein production. The protein was purified by Ni~(2+) affinity chromatography. The function of Efb protein was determined by complement activity assay and inhibition ELISA.The polyclonal antibodies were prepared by immunizing the animals. Results: The purified recombinant Efb was obtained, which could inhibit the CH50 and AH50 effectively. The functional poly-antibodies of Efb were prepared.Conclusion:Efb could inhibit the classical pathway and alternative pathway of complement activation, and the antibodies against to Efb could block the inhibition of the classical pathway of complement activation induced by Efb.

Objective To study the current situation of human brucellosis infection in a population at high risk in Qian'an,and to provide a scientific basis for prevention and control of the disease.Methods Towns with centralized residents working in sheep breeding,transporting,slaughtering and processing in Jianchangying,Muchangkou and Xiaguanying of Qian'an were selected.In each selected town,2-3 villages with relatively centralized households working in sheep farming,transportation and slaughtering were chosen.All of the people who contacted the sheep or their excrement were chosen as monitoring objects,and serological antibody was tested with rose Bengal plate test(RBPT) and serum agglutination test(SAT).Regional,gender,age and occupational distribution of brucellosis were analyzed.Results A total of 367 blood samples were tested,46 of them were positive in both RBPT and SAT with a ratio of 12.53％ (46/367).Male positive rate [13.51％ (30/222)] was slightly higher than that of females [11.03％(16/145)].The rate in Jianchangying was higher than that of other two towns with a ratio of 13.38％(40/299).The veterinary population had the highest ratio of 33.33％(1/3).Conclusions It is necessary to carry out the surveillance on brucellosis and to further strengthen communication with the animal husbandry department,and strengthen protection on key population.At the same time,in order to control the spread of the disease,extensive health education and intervention measures should be carried out.

Objective To explore the clinical related prognostic factors of allogeneic hematopoietic stem cell transplantation (allo-HSCT) in treating malignant hematological diseases. Methods From September 1997 to August 2008,a total of 26 patients with hematological diseases were treated with allo-HSCT from HLA identical-sibling and haplo-identical donors in our hospital, including 14 patients with acute leukemias,10 with chronic myeloid leukemias,and 2 myelodysplastic syndromes. Results All patients achieved sustained full donor type engraftment. The cumulative overall survival (OS) was 63.9 %,and cumulative disease free survival (DFS) was 62.6 %. Fifteen patients had graft-versus-host disease (GVHD) (57.7 %),including 8 acute GVHD(aGVHD) (30.8 %) (grade Ⅲ-Ⅳ aGVHD was 15.4 %) and 7 chronic GVHD. GVHD between HLA identical-sibling and haplo-identical donors was different and there was statistic difference between the two groups (P=0.014). 4 patients relapsed,7 patients died. The univariate analysis showed OS were correlated with grade Ⅳ aGVHD (P=0.05) and CMV infection (P=0.027). Conclusion Allo-HSCT is effective for the cure of patients with malignant hematological diseases. The key to improve the efficacy of HSCT is to reduce the incidence of transplant-related complications,especially GVHD and infection.

Japanese encephalitis virus(JEV)is one of the leading cause of viral encephalitis in Asia. The phenotypic and genotypic characteristics of isolated virus strains are reviewed in this paper. Studies on the biological characteristics of the isolates showed that different isolates existed apparent differences in virus plaque morphology, neuroinvasive pathogenicity in mice, protective antigenicity and hemagglutination property. In China, only genotype III JEV strains were isolated before 1977. But since 1977, both genotype I and I JEV strains were isolated and the genotype I virus, which was isolated from mosquitoes mostly, has become the dominant strain. Study on the genomic sequence indicated that there was only a few amino acid difference (< or = 43%) between the two genotype isolates. Comparison between both genotype isolates and widely used live vaccine strain SA14-14-2 revealed that there were only < or = 3% amino acid differences, most of which were the SA14-14-2 unique attenuating sites. These results indicate that the SA14-14-2 live vaccine is able to protect people against infection of the both genotype I and Ill JEV strains.
Animals ; China ; Culicidae ; virology ; Encephalitis Virus, Japanese ; classification ; genetics ; immunology ; isolation & purification ; Encephalitis, Japanese ; immunology ; prevention & control ; virology ; Genome, Viral ; genetics ; Genotype ; Humans ; Japanese Encephalitis Vaccines ; immunology ; Mice ; Phenotype ; Species Specificity ; Vaccines, Attenuated ; immunology

Objective To study the effect of feto-matemal microchimerism in the treatment of activated human leukocyte antigen (HLA) haploidentical mobilized peripheral blood cells against solid tumors. Methods Genomic DNA samples of 25 pairs of HLA haploidentical donors and recipients were extracted. The donor-derived HLA-DRB loci were detected with nested PCR-sequence specific primer(SSP) typing. The mixed lymphocyte proliferation action between the patients and respective donors, the engraftment of donor's cells and the serum levels of Th1/Th2 type of cytokines were measured with MTT,FISH and EIJSA method respectively. The survival time of patients with or without feto-matemal microchimerism were compared as well. Results Using nested PCR-SSP typing, the positive rates of feto-maternal microchimerism in the 25 pairs of HLA haploidentical donors and recipients were 40% in the maternal/children pairs and 0 in the paternal/children pairs. The chimerism positive patients showed less proliferation activity when cocultured with respective donors as compared with unrelated ones (P=0.03).Only one chimerism positive patient experienced the engraft of donor's cell 3 months after treatment as the donor derived XX chromosome was identified with FISH. When the data of chimerism positive patients were deleted, the serum levels of IFNγ 1 month after treatment dropped dramatically from 171.4 (26. 3～258.4) ng/L to 29. 4(1.2～39.9)ng/L. The survival time in chimerism positive patients of the maternal/children pairs was significantly longer than that in chimerism negative patients, which was (31.2±4. 3) months and (11.1±3.3) months, respectively (P=0.036). Conclusion Feto-maternal microchimerism might induce anergy in the HLA haploidentical donors, favor the engraftment of donor's progenitors and maintenance of positive microenvironment and prolong the survival time.