Objective To study the mutation of STK11 gene in a Chinese family and a sporadic patient with Peutz-Jeghers syndrome (PJS),and to provide a basis for genetic diagnosis and counseling.Methods One sporadic patient and two patients from a family with PJS were collected,all of whom had typical mucosal pigmentation and gastrointestinal polyposis.Blood samples were obtained from the two patients and six unaffected relatives in this family,the sporadic patient,and 100 healthy controls.DNA was extracted,and PCR was performed to amplify nine exons and their adjacent introns in the STK11 gene followed by direct sequencing.The sequencing results were aligned to the published sequence of STK11 gene from Genbank.Results No mutation was found in the STK11 gene of any of the patients,unaffected relatives,or healthy controls.Conclusions Genetic heterogeneity exists in Peutz-Jeghers syndrome,hinting that there may be other causative genes or sites for this entity.

Objective To confirm the transmission of Toxoplasma gondii by semen and to investigate the impact of vaginal status on the transmission of T. gondii in female rabbits. Methods Sixteen male rabbits were infected with T. gondii by intraperitoneal injection each with 1 ×105 RH tachyzoites. Eight rabbits died in 8-14 d after infection.Artificial vagina was used to collect semen from male rabbits weekly before and after infection for 8 weeks. If more than 2 portions of semen from 8 survived male rabbits were collected after infection, the collected semen was mixed weekly for later use. Twenty-seven female rabbits were divided into 4 groups: group 1 with normal vagina (7 rabbits), group 2with wounded vagina (7), group 3 with trichomonas vaginitis (7) and group 4 with colpomycosis infection (6). Tachyzoites were found in mixed semen digested by trypsinase, and were used for endovaginal artificial insemination to female rabbits by uterine cavity tube once a week for 8 consecutive weeks. 2-3 d after every insemination, 2 ml blood was collected from helix vein of each rabbit, and stored at -40 ℃ for use. Anti-T. gondii antibody was examined by ELISA and the B1 gene of T. gondii was detected by PCR. Results Anti-T. gondii antibody was detected in some rabbits (2, 3, 1, and 1 rabbits from each of the groups respectively) on the 16th day after the first insemination. The positive rate of ELISA was 25.9%. The amplification of B1 gene (200 bp) by PCR appeared positive from the blood samples on the 3rd day after the first insemination and the last positive one was proved on the 51th day after the first insemination.Number of positive samples was 2, 1, 3 and 1 in the 4 groups respectively, with an overall PCR positive rate of 18.5%.Only 3 of the 27 rabbits were positive by both ELISA and PCR. Conclusions T. gondii can be transmitted by semen and the health status of vagina shows no impact on it.

Objective To investigate the association between single nucleotide polymorphism (SNP) of macrophage migration inhibitory factor (MIF) gene-rs1007888 and the pathogenesis of gestational diabetes mellitus (GDM).Methods A total of 120 GDM pregnant women (GDM group) and 165 healthy pregnant women (control group) from Affiliated Hospital of Medical College,Qingdao University were recruited from June 2011 to July 2012.Their age,gestational week,height and weight were recorded.The levels of fasting blood glucose (FBG) and fasting insulin (FIN) were determined.Body mass index (BMI),the hemeostasis model assessment-insulin resistance (HOMA-IR) and hemeostasis model assessment-β cell function (HOMA-β) were calculated.DNA was extracted from fasting blood samples.SNP of MIFrs1007888G/A was determined by DNA sequencing.The FBG,FIN,HOMA-IR and HOMA-β were compared between GDM group and the control group.They were also compared among pregnancies withdifferent genotypes.Results (1) GDM group had higher FBG,FIN and HOMA-IR levels,but lower HOMA-β than the control group (all P ＜ 0.05).(2) MIF-rs1007888 SNP genotype frequencies of GG,GA and AA were 37.5％,45.8％ and 16.7％,and the allelic frequencies of G and A were 60.4％,39.6％ in GDM group; However,in the control group,the frequencies of GG,GA and AA were 26.1％,54.5％ and 19.4％,and the allelic frequencies of G and A were 53.3％,46.7％,respectively.The distributions of MIF genotypes in GDM patients were significantly different from the healthy subjects (P ＜ 0.05).No significant difference of MIF-rs1007888 allele distributions was observed between GDM group and the control group (P ＞0.05).(3) The FBG,FIN and HOMA-IR in pregnant women with GG genotype were statistically higher than those with GA or AA genotypes,while HOMA-β was lower in women with GG genotype (all P ＜0.05).Conclusions The SNP of MIF rs-1007888 was related to the insulin resistance and pancreatic β cell function of pregnant women.GG genotype of MIF-rsl007888 might be a genetic susceptible factor in the pathogenesis of GDM.

BACKGROUND:Now, domestic total knee arthroplasty surgeries mainly use medial parapatel ar approach, with the disadvantages of large trauma and slower recovery. The quadriceps sparing approach is more accorded with normal anatomy, which can keep the knee extension system intact. The clinical comparison between quadriceps sparing approach and medial parapatel ar approach is rare.
OBJECTIVE:To compare the early effect of total knee arthroplasty through quadriceps sparing approach and medial parapatel ar approach.
METHODS:From January 2009 to January 2010, 55 patients (70 knees) were randomly divided into quadriceps sparing approach group (n=26, 35 knees) and medial parapatel ar approach group (n=29, 35 knees). Patients in two groups received total knee arthroplasty through quadriceps sparing approach and medial parapatel ar
approach respectively. The incision length, operative time, postoperative drainage volume, additional amount of etoricoxib tablets, pain degree, straight leg raising time, start walking time, hospitalization time, range of motion of knee joint, Hospital for Special Surgery Knee Score, radiographic alignment of al components and complications were compared between two groups. Al the prostheses used in this study were the Sigma type prostheses
provided by the rotation platform of Johnson&Johnson Company.
RESULTS AND CONCLUSION:Al the patients were fol owed-up for 12-24 months without infections, deep vein thrombosis, neurovascular injury, prosthesis instability, prosthesis loosening or displacement. Position of al the
prostheses was normal in patients. The operative time in the quadriceps sparing approach group was longer than that in the medial parapatel ar approach group (P=0.00), while the incision length, postoperative drainage volume, additional
amount of etoricoxib tablets, visual analog scale, straight leg raising time, start walking time, hospitalization time, range of motion of knee joint at 3 days after replacement and Hospital for Special Surgery Knee Score in the quadriceps
sparing approach group were better than those in the medial parapatel ar approach group (P<0.05). There were no
significant differences in range of motion of knee joint at 3 days after replacement and Hospital for Special Surgery Knee Score between two groups. The early effect of total knee arthroplasty through quadriceps sparing approach is better than the medial parapatel ar approach, and there is no significant difference in prosthesis alignment between two methods.

Objective To explore gene polymorphism of the C/T genotype of rs1143627 in the promoter of IL-1β gene in male population living in the coastal area of Shandong, and thus to investigate the relationship between the gene polymorphism of IL-1β and gout. Methods A total of 208 gout patients and 210 healthy controls were enrolled. The possible association between the polymorphism of IL-1 β -3 1C/T and gout in Chinese were investigated and genotype frequencies and allelic frequencies was calculated by polymerase chain reaction (PCR)-restriction fragment length polymorphism (RFLP) method. Hardy-Weinberg was used to verify the representativeness of the sample. Comparisons between the groups were performed with χ2 test and t-test. Results The frequencies of CC, CT, and TT genotypes were 32.7%, 43.3% and 24.0%,respectively among gout patients, while they were 31.9%,46.2% and 21.9%, respectively among the controls.There was no statistically difference in IL-1β -31C/T genotype frequencies between gout patients and controls (χ2=0.427, P>0.05). The allele frequencies of C and T in gout cases were different from those in the controls (54.3%, 55.0%; 45.7%, 45.0%; χ2=0.038, P>0.05). Moreover, no association between IL- I β-31 C/T genotypes and risk factors for gout were observed in gout cases by χ2 test. Conclusion Results of the present study suggest that the C/T genotype of rs1143627 in the promoter of IL-1β gene is not associated with gout in male population living in the coastal area of Shandong.

Objective To compare the effica cy of three N,N-diethyl-m-toluamide (DEET) formulations against Schistosoma japonicum infection in mice. Methods Three 10% DEET formulations (DEET isopropanol solution,DEET cr eam and DEET vaseline ointment)were prepared and two experiments, no-dipping or dipping after applying DEET preparation ,were designed. In each experiment, mice were randomly divided into three experiment groups and three control groups . D ifferent DEET preparations were applied in the experiment groups and isopropanol solution, “yumeijing” cream , vaseline ointment were applied in the control g roups, respectively. At different time points after skin application (0.5, 1, 2 , 4 h and 8 h),the mice were infected with (50?5) Schistosoma j apon icum cercariae on the abdominal skin in no dipping experiment. I n dipping experiment,after mice skin were applied and were dipped for 10,30 min, 1 ,2 h and 4 h, respectively, the mice were infected with (50?5) cercariae. Af ter 6-7 weeks ,all the mice were sacrificed and the worms were collected by hea rt perfusion and counted.Worm reduction rates were calculated and rank sum tests w ere carried out. Results In no-dipping experim ent,three DEET formulations provided 100.0% protection in mice at least for 1 h .A t 2 ,4 h and 8 h ,the worm reduction rates were 94.8%,89.9% and 13.3% for DE ET isopropanol solution, 100.0%,97.8% and 50.7% for DEET cream and 100.0%,9 9.0% and 9 8.0% for DEET vaseline oinment, respectively. In dipping experi-ment, given 50.0% wor m reduction rate as efficient in preventing penetration by the cercariae, the e ffective times were 10 min for DEET isopropanol solution,30 min for DEET cream a nd 2 h for DEET vaseline oinment,respectively. Conclusion Three DEET formulations are effectiv e in preventing Schistosoma japonicum infection in mice.DEET vaseline oinment can provide better protection than the other two D EET formulations.

ObjectiveTo explore the efficiency of N,N-diethyl-m-toluamide (DEET) with different concentrations in prevention of Schistosoma japonicum infection in mice.MethodsKunming-mice were randomly divided into four groups for the application of the vaseline ointment with different DEET concentrations (0,10%,20% and 30%). After the abdominal skin of the mice were smeared with those DEETs above mentioned and dipped into water for 10,30 min,1,2 h and 4 h, the mice were infected with (505) cercariae respectively. After infected for 6-7 weeks, all of the mice were sacrificed,and by perfusing heart the worms were collected and counted.Worm reduction rates were calculated and the rank sum tests were carried out. ResultsAt the time points of 1,2 and 4 h , the worm reduction rates were 78.34%,63.15% and 40.23% for 10% DEET vaseline ointment, 98.61%,93.37% and 75.74% for 20% DEET vaseline ointment and 100.00%,98.61% and 93.07% for 30% DEET vaseline oinment respectively(H =10.06,10.84,10.80,all P

Objective:To study the effects of compatibility circumstances on guizhi's effect in dispelling cold and relieving exterior in complex prescriptions. Methods:202 formulae that effected on Sanhanjiebiao were collected from 1425 formulae with guizhi,and the frequency of herbs combining with guizhi in 202 formulae was ranked from high to low. Results:According to the compatibility frequency from high to low,herbs are:Radix Ledebouriellae(60.89%) ,Herba Ephedrae(36.63%) ,Notopterygium Incisum Ting ex H.T.Chang(27.23%) ,Radix Angelicae Dahuricae(14.85%) ,Rhizoma Zingiberis Recens(11.39%) ,Herba Schizonepetae(5.94%) ,Radix Ledebouriellae and Herba Schizonepetae(4.46%) successively. Conclusion:It showed that guizhi should combine with corresponding herbs to form compatibility circumstances to exert the effect of Sanhanjiebiao in formula,and the function exertion will be effective.

Objective To explore gene polymorphism of the G/C genotype of-173G/C(rs755622)in the promoter of macrophage migration inhibitory factor(MIF)gene in male population,and thus to investigate the relationship between gene polymorphism of MIF and gout.Methods A total of 380 gout patients and 378 healthy controls were enrolled.The possible association between the polymorphism of MIF-173G/C and gout in Chinese were investigated and genotype frequencies and allelic frequencies were analyzed by polymerase chain reaction with sequence-specific primers(PCR-SSP)method.Hardy-Weinberg was used to verify the representativeness of the samples.Comparisons between the groups were performed with x2 test.The gene polymorphism of MIF and gout was performed by t test.Results The frequencies of GG,GC,CC genotypes were 62.1％(236 cases),34.2％(130 cases)and 3.7％(14 cases),respectively among gout patients,while they were 66.5％(252 cases),29.8％(113 cases)and 3.7％(14 cases),respectively among the controls.There was no statistical difference in MIF-173G/C genotype frequencies between gout patients and controls(x2=1.713,P=0.425).The allele frequencies of G and C in gout cases were 79.2％(602 cases)and 20.8％(158cases),while the controls were 81.4％(617 cases)and 18.6％(141 cases),and no significant difference between them could be found(x2=1.148,P=0.302).Combine GG and GC of gout into GG+GC,the association analysis of the two groups showed that,mean age,leves of glucose,TG,TC,BUN,Cr and UA of the GG+GC group and the CC group were(51±13)and(50±15)t=0.369,P=0.712;(7.1±8.8)and(6.1±1.2)mmol/L,t=0.352,P=0.725;(2.3±1.6)and(2.9±3.4)mmol/L,t=-1.207,P=0.228;(5.3±1.2)and(5.7±1.4)mmol/L,t=-1.207,P=0.228;(5.8±2.9)and(6.2±2.2)mmol/L,t=-0.513,P=0.608;(92±52)and(84±17)μmol/L,t=0.537,P=0.592;(472±103)vs(557±154)μmol/L,t=-2.949,P=0.03 respectively;no significant difference was found in the two group.Moreover,no association between MIF-173G/C genotypes and risk factors for gout were detected in gout cases by t-test.Conclusion Results of the present study suggest that the G/C genotype of-173G/C in the promoter of MIF gene is not associated with gout in male population.

Objective To investigate the association between rs1013940 in SLC5A7 and Tourette Syndrome ( TS) in Chinese Han population.Methods Polymorphism was genotyped in 401 TS nuclear fam-ilies trios from china by real-time fluorescent quantitive PCR.Transmission disequilibrium test ( TDT) and Haplotype relative risk ( HRR ) were used to analyze the association between the genetic distrbution of rs1013940 and TS and the results were verified by haplotype-based haplotype relative risk( HHRR) .Results No transmission disequilibrium was found between rs1013940 in SLC5A7 and TS by TDT and HRR( TDT:χ2=0.268, P=0.657, OR=0.728,95%CI=0.366-1.451;HRR:χ2=0.111, P=0.739, OR=0.959,95%CI=0.762-1.466) .HHRR also indicated the same result ( HHRR:χ2=0.276, P=0.599, OR=1.082,95%CI=0.806-1.453) .Conclusion The result reveals that there is no significant association between rs1013940 in SLC5A7 and TS in Chinese Han population.However,the results need to be further validated in different populations.