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

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.

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

Objective To compare the detection efficiency between multiplex RT-PCR method and liquichip technology for screening the viral etiological agents of diarrhea.Methods The development of the multiplex RT-PCR method.A total of 107 feces samples from patients who suffered from diarrhea and attended to Zhujiang Hospital of Southern University from September 2013 to February 2014 were collected and tested in parallel by both multiplex RT-PCR and xTAG Gastrointestinal Pathogen Panel ( xTAG GPP) for Adenovirus, Norovirus genogroupⅠandⅡ, as well as by both multiplex RT-PCR and monoplex RT-PCR for Astrovirus and Sapovirus.To evaluate the sensitivity and specificity of multiplex RT-PCR, xTAG GPP and monoplex RT-PCR were used as reference.Kappa coefficient test was used to evaluate the consistency among the methods.The detection limit and accuracy of multiplex RT-PCR were evaluated by detection of serial dilution of positive plasmids and products sequencing for the five viral agents.Results The multiplex RT-PCR showed high consistency with xTAG GPP and monoplex RT-PCR, in which Kappa value was 0.885 and 1.000 respectively( P=0.000 ).Compared to xTAG GPP, the sensitivity and specificity of the multiplex RT-PCR were at average of 80.8%( 21/26 ) and 100%( 295/295 ) respectively.The detection limit and accuracy of multiplex RT-PCR were 104 copies /μl-106 copies/μl.Conclusion The high consistency indicated that both the multiplex RT-PCR and xTAG GPP are useful as a special,sensitive, high throughput and rapid diagnostic tools for the detection of the major viral pathogens related to diarrhea in clinical laboratory.

Objective To Compare postoperative complications between patients with varicose veins of the lower limbs treated with foam sclerotherapy or endovenous laser.Method From 2011 to 2015,simple varicosis of great saphenous vein patients (grade C3-6) in 2 542 cases,3 468 limbs were divided into 2 groups.Combined with high ligation of great saphenous vein plus stripping,foam sclerotherapy group (1 355 cases) underwent calf foam sclerotherapy (1％ polidocanol),endovenous laser group (1 187 cases) underwent endovenous laser therapy.All postoperative patients were treated with stretch socks for 3 months.Postoperative pain (calf),deep vein thrombosis,pulmonary embolism,superficial thrombophlebitis,saphenous nerve injury,ecchymoma,migraine,allergic dermatitis,pigmentation in 2 groups were compared.Result During the follow-up,28 cases in foam sclerotherapy group had saphenous nerve injury (2％),1 071 (79.1％) cases had subcutaneous ecchymosis,613 cases (51.6％) in endovenous laser group had saphenous nerve injury,979 cases (82.5％) had subcutaneous ecchymosis,8 cases (1.0％) had skin burns (x2 =824.660,4.786,9.161,P ＜ 0.05).Endovenous laser group (23.8％) was significantly better than that of foam sclerotherapy group (30.8％) in pigmentation (x2 =15.243,P ＜0.05).Conclusion Treatment of varicose veins of the lower leg with foam sclerotherapy has less postoperative complications compared with endovenous laser.

Objective:To develop the Counseling Skills Rating Scale for Psychological Aids Hotline (CSRSPAH),an instrument to objectively assess the quality of process of counseling or intervention provided by hotline operators,and to test its validities and reliabilities.Methods:A draft of the scale,which consisted of 50 items under 5 dimensions,was designed in line with previous researches and the practice.In pilot study,supervisors at Beijing psychological aids hotline,assessed tape recorded sessions and gave feedbacks on the draft of the scale.The scale had been revised based on the pilot study.Twenty-eight items were deleted,and several items were rephrased.Finally,a scale which consisted of 22 items within 3 dimensions,i.e.counseling process,attitude,and communication skill,was developed.The scoring standards of the scale were also developed.To evaluate the IntraClass Coefficients (ICC) of the CSRSPAH,each of the tape records of 37 callings from 2005 to 2007 were assessed by 7 supervisors independently,using the scale.And the tape records of other 318 callings from 2013 to 2014 were also assessed by supervisors,using the CSRSPAH.The results of the 318 assessed callings were used to test the construct validities with the Confirmative Factor Analysis.The Cronbach a coefficients of the total score and three dimensions,the discriminant indices of every items,and correlations of each items and each dimensions were calculated,based on the 318 assessed callings.Results:One of the items (referral) was deleted due to excessive amount of missing data.Results of cortfirmative factor analysis of the remained 21-item scale revealed that the 3-factor construct structure of the scale was robust.The fitting indices of the confirm factor analysis were,x2/df=675.21/186,CFI =0.92,NNFI =0.91,RMSEA =0.10,SRMR =0.08.The Cronbach α coefficients of the total score,scores of counseling process,attitude,and communication skill,were 0.89,0.68,0.81 and 0.77,respectively.The ICCs of the inter-rater reliabilities of the total score and 3 dimensions of the scale were 0.67,0.59,0.59,and 0.67,respectively.The discriminant indices of all the 21 items ranged from 0.09 to 0.32.The correlation coefficients of scores of each items and scores of 3 dimensions and total scores were greater than 0.30,and reached statistical significance.Conclusion:The validities and reliabilities of the Counseling Skills Rating Scale for Psychological Aids Hotline are acceptable.The scale could be used in assessing the quality of hotline counseling or intervention,and related studies in the future.

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.

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.