Objective To investigate the correlation between late-onset sporadic parkinson's disease(PD) and single nucleotide polymorphism (SNP) of autophagy-related genes 7 (Atg7) rs2606757 (6+1196A/T)in Han Chinese population.Methods Totally 124 patients with late-onset sporadic PD(the PD group)and 105 age-and sex-matched healthy individuals(the control group)were enrolled in this study.The SNP of Atg7 rs2606757 was detected by the polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP).After gene sequencing for the detection of allele and genotype frequencies distribution and testing Hardy-Weinberg equilibrium,the differences in Atg7 rs2606757 genotype and allele frequency were compared between PD group and control group and between males and females.Results The frequency of AA genotype was statistically significantly lower in the PD group[34.7％(43/124)]than in the control group[53.3 ％ (56/105)](x2 =8.063,P=0.005,OR =0.465,95％ CI:0.273-0.791).In men's PD group versus men's control group,AA genotype of the Atg7 rs2606757 showed a lower frequency for late-onset sporadic PD[33.3 ％ (23/69)vs.53.2 ％ (33/62),x2 =5.280,P =0.022,OR =0.439,95 ％ CI:0.217-0.891].Logistic regression analysis indicated that the AA genotype frequency distribution of Atg7 rs2606757 showed a significant difference between PD and control groups (OR =2.210,95％ CI:1.289-3.789,P =0.004).Conclusions The higher frequence of AA genotype at Atg7 rs2606757 only in males might be associated with the decreased risk of late-onset sporadic PD.

Objective To investigate the association between rs14016 (19 +31C/T) polymorphisms of autophagy-related genes 7 (Atg7) and Parkinson's disease (PD) in Han population in China.Methods Totally 123 patients with Parkinson's disease (PD) (case group) and 101 synchronized health controls (control group) were selected from Chinese Han population between January 2013 and July 2016.A single nucleotide polymorphism (SNP) of rs14016 of Atg7 gene was detected by polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) analysis.After gene sequencing for genotyping and detection of alleles,genotype and allele frequency distributions were analyzed in the two groups.Results The frequency distributions of TT genotype and T alleles were 17.9％ (22/123) and 41.1％ (101/246) in the case group,and 5.9％ (6/101) and 31.2 ％ (63/202) in the control group,respectively.The difference in genotype frequencies between the two groups was statistically significant (x2 =7.236,P =0.007,OR =3.01,95 ％ CI:1.27-7.14).The frequencies of T and C alleles were 41.1％ (101/246) and 58.9％ (145/246) respectively in the case group,and 31.2％ (63/202) and 68.8％ (139/202) in the control group (x2 =4.655,P=0.031,OR=1.32,95 ％CI:1.02-1.70),with the statistically significant difference in the allele.The TT genotype of rs14016 showed statistical significance between the two groups by logistic regression analysis (OR=3.40,95％CI:1.32-8.80,P=0.012).Conclusions The T allele and TT genotype at the rs14016 of Atg7 gene might be associated with PD,and might increase the risk for suffering from PD,which is worthy of further fully researches.

Objective To compare and analyze the clinical characteristics of acute central cervical spinal cord injury with only upper extremity involvement and with both upper and lower extremity involvement.Methods A retrospective case control study was made on clinical data of 76 patients with acute central cervical spinal cord injury hospitalized from January 2010 to December 2013.Nerve injury involved was only upper extremity in 39 patients (upper extremity group),but both upper and lower extremities in 37 patients (upper-and lower-extremity group).In upper extremity group,there were 35 males and four females,age was 21-80 years [(52.5 ± 13.4) years],injury resulted from traffic accidents in 24 patients,ground-level falls in eight,high-level falls in six and heavy-object hit in one,and level of injury was C3/4 in 16 patients,C4/5 in 14 and C5/6 in nine.In upper-and lower-extremity group,there were 30 males and seven females,age was 36-78 years [(59.6 ± 9.7) years],injury resulted from traffic accidents in 16 patients,ground-level falls in 11,high-level falls in seven and heavyobject hit in three,and level of injury was C3/4in nine patients,C4/sin 18 and C5/6in 10.Sagittal diameter of the cervical spinal canal,maximal canal compromise,maximal spinal cord compression,degenerating factors of the cervical spine and treatment protocols were determined.Upper extremity function was assessed with the American spinal injury association (ASIA) score.Results There were significant differences between upper extremity group and upper-and lower-extremity group in sagittal diameter of the cervical spinal canal [(7.5 ± 1.5)mm ∶ (6.8 ± 1.2)mm],maximal canal compromise [(28.9 ±9.6)％ ∶ (34.9 ± 10.6)％],ASIA score at admission[(31.6 ± 11.8)points ∶ (22.7± 11.3)points)] and ASIA score at last follow-up [(46.2 ± 4.2) points ∶ (40.2 ± 4.0) points] (P ＜ 0.05),while the maximal spinal cord compression in upper extremity group [(15.7 ± 11.9)％] had no significant difference from that in upper-and lowerextremity group [(17.0 ± 10.6) ％] (P ＞ 0.05).Lower prevalence of posterior osteophyte of the vertebral body was noted in upper extremity group than upper-and lower-extremity group (15％ ∶ 51％) (P ＜0.01).Twenty patients (49％) in upper extremity group were surgically treated,while 31 patients (84％) in upperand lower-extremity group (P ＜ 0.05).Conclusions Compared to acute central cervical spinal cord injury with both upper and lower extremity involvement,the injury with only upper extremity involvement is much common in younger patients and is characterized by lowered frequency of osteophyte,large buffer space,mild nerve damage,preferred non-operation treatment and good prognosis.

Objective To explore the association of ubiquitin-specific proteases 24 (USP24) gene polymorphisms with susceptibility to sporadic Parkinson's disease (PD) in the Han Guangdong population. Methods From August, 2006 to January, 2014, single nucleotide poly-morphisms (SNPs) of rs12138592 and rs6671533 in the intron region of USP24 were genotyped in 200 patients with sporadic PD and 200 healthy controls using the SNaPshot technique. Results There was significant difference in the allele and genotype frequency of rs12138592 between the patients and the controls (P<0.01), and no significant difference was found in the allele and genotype frequency of rs6671533 (P>0.05). Conclusion The SNP of rs12138592 in the intron region of USP24 is associated with the susceptibility to sporadic PD in the Han Guangdong population, and the A allele may contribute a protective roles to PD.

Objective To evaluate the diagnostic value of the combination of serum DKK1 (Dickkopf-1 )and P53 autoantibodies in patients with esophageal squamous cell carcinoma (ESCC).Methods Serum levels of DKK1 and P53 autoantibodies were measured by enzyme-linked immunosorbent assay (ELISA) for the 1 26 patients with ESCC and 60 normal controls.Receiver operating characteristics (ROC)was used to calculate the diagnostic efficiency.Results The serum levels of DKK1 and P53 autoantibodies were signifi-cantly higher in ESCC than those in normal controls [(673.09 ±343.82)pg/ml vs (362.05 ±1 48.07)pg/ml, Z =6.1 58,P <0.000 1 ;(0.398 ±0.546)vs (0.069 ±0.050),Z =3.832,P <0.000 1 ].ROC curves showed the optimum diagnostic cutoff for serum DKK1 was 588.77 pg/ml,with an area under curve (AUC)of 0.780 (95%CI:0.71 5 ~0.844,61 .9% sensitivity,95.0% specificity).Measurement of P53 autoantibodies demonstrated an AUC of 0.674 (95%CI:0.598 ~0.750,45.3% sensitivity,95.0% specificity).The com-bination of DKK1 and P53 autoantibodies yielded an AUC of 0.843 (95%CI:0.788 ~0.897,73.8% sensitiv-ity,95.0% specificity).In early-stage ESCC,combined detection of DKK1 and P53 autoantibodies improved the diagnostic power,with an AUC of 0.903 (95%CI:0.845 ~0.961 ,81 .0% sensitivity,95.0% specifici-ty).Conclusion Serum DKK1 and P53 autoantibodies can be used as potential diagnostic biomarkers for the ESCC.Combined detection of them might aid the early diagnosis of ESCC.

Objective To investigate the correlation between G753A and C1040T polymorphisms in the gene encoding region of thrombin-activatable fibrinolysis inhibitor (TAFI )and cerebral infarction in patients with cerebral infarction in Chinese Han population. Methods C1040T and G753A poly-morphisms in the TAFI gene encoding region in 130 patients with cerebral infarction and 118 healthy subjects (control group)were analyzed retrospectively and they were detected by using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP ). Results The GG genotyping of the TAFI gene G753A polymorphism in the cerebral group was 41. 5%(n=54)and the A allele carriers were 58. 5%(n=76),while those in the control group were 44. 9%(n=53)and 55. 1%(n=65)respectively. There were no significant differences in the GG genotyping of TAFI gene G753A polymorphism and the A allele carriers between the cerebral infarction group and the control group (χ2 =0. 288,P=0. 592). In the cerebral infarction group,the CC genotyping of C1040T polymorphism was 50. 0%(n=65)and T allele carriers were 50. 0%(n=65),while those in the control group were 51. 7%(n=61)and 48. 3%(n=57)respectively. There were no significant differences in the GG genotyping of C1040T polymorphism and the T allele carriers between the two groups (χ2 =0.071,P =0.790 ). Multivariate logistic regression analysis showed that G753A and C1040T single nucleotide polymorphisms (GA or AA genotype)in the TAFI gene encoding region were not the independent risk factors for cerebral infarction. Conclusion There are no significant differences in the correlation between the G753A and C1040T polymorphisms in the TAFI gene encoding region and cerebral infarction. They are not the independent risk factors for the onset of cerebral infarction.

Numerous studies found that the content of peripheral blood circulating RNA in various cancer types is aberrant increased,which could be a potential biological diagnostic marker and therapeutic target.Detecting the peripheral blood circulating RNA through the molecular biology technology will provide a sensitive and efficient,convenient,specific,noninvasive and minimally invasive therapy for the early diagnosis and detection,prognosis and therapeutic monitoring of malignant tumor.

Abstract: Objective To research the relationship between promoter polymorphism-438 A/G of thrombin-activatable fibrinolysis inhibitorgene (TAFI-438 A/G) and atherosclerotic cerebral infarction (ACI) in Chinese Han population. Methods TAFI-438A/G genotypes andtheir allele frequencies were identified with the polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP) in225 ACI patients and 184 healthy controls. Results There was no significant difference of TAFI-438A/G polymorphism between ACI groupand control group. Stratified by gender, in males, the incidence of A allele was 28.6% in ACI group, and 20.6% in control (P=0.039); of theAA genotype was 9.0% in ACI group, and 1.9% in control (P=0.019). But no significant difference was found in females. ConclusionTAFI-438A/G polymorphism is associated with the risk of ACI in males, that AA genotype may increase the risk of ACI.

Studies demonstrate that the serum level of cytokeratin 19 fragment antigen 21-1 ( CYFRA21-1 ) is high in various cancer types.As a novel epithelial cells derived tumor marker,detection of the serum level of CYFRA21-1 is of great clinical significance for screening and diagnosis,curative effect evaluation,recurrent monitoring and prognosis assessment for cancer patients.

Objective To investigate the correlations of the single nucleotide polymorphism (SNP) 344-35C/T of growth arrest-specificgene 6 (GAS6) gene and cerebral infarction in Han population in the western Guangdong province. Methods The restriction fragment lengthpolymorphism (PCR-RFLP) was used to determine the 344-35C/T polymorphism in the intron region of GAS6 gene in the case group (n=180) and healthy control group (n=150). Results There was no significant association between GAS6-344-35C/T and cerebral infarction (P<0.05). After stratified by gender in chi-square test in women population, the frequency of C allele was significantly higher in cases (77.9%)than that in controls (66.4%) (P=0.040); The frequency of the CC genotype was significantly higher in cases (61.8%) than that in controls(43.1%) (P=0.036). Conclusion In Han women in western Guangdong province, C allele of GAS6-344-35C/T polymorphism is a risk factorof cerebral infarction, CC genotype is a susceptible genotype of cerebral infarction.