In Western countries, the mutation status of the BRCA1 and BRCA2 genes is commonly determined for genetic counseling among members of families with a history of breast or ovarian cancer, especially for women of the Ashkenazi Jewish ethnicity. Recent studies in the Cancer Genome Atlas project have demonstrated that BRCA2 mutation carriers are more responsive to platinum-based chemotherapy among high-grade serous ovarian cancer patients. Thus, in Western countries, the mutation status of BRCA1 and BRCA2 is recognized to have an important value with which to assess cancer risk and therapeutic response. However, very limited studies of BRCA1 and BRCA2 mutations and their implications for counseling and therapeutic prediction have been conducted in China. Therefore, a potentially important genetic test that is technically simple has not benefited Chinese women with an increased risk of breast or ovarian cancer. This article summarizes the current progress in the study of BRCA1/2 mutation in China and recommends an increased effort in applying advances in genetic testing to the clinical management of Chinese patients with ovarian cancer.
Age Factors ; Asian Continental Ancestry Group ; genetics ; Disease-Free Survival ; Female ; Genes, BRCA1 ; Genes, BRCA2 ; Genetic Predisposition to Disease ; ethnology ; Genetic Testing ; Humans ; Mutation ; Ovarian Neoplasms ; drug therapy ; ethnology ; genetics ; surgery ; Platinum ; therapeutic use ; Remission Induction ; Risk ; Survival Rate

Objective To evaluate the effect of -477C/T single nucleotide polymorphism (SNP) in promoter region of ABCA1 gene on plasma levels of high density lipoprotein cholesterol (HDL-C) and coronary artery disease (CAD). Methods -477C/T genotypes in promoter region of ABCA1 gene were assessed in 96 CAD patients and 100 healthy individuals with polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP), and distribution of the -477C/T genotypes was compared between CAD group and healthy group, and also between patients with different CAD clinical manifestations. The clinical indexes associated with CAD were also compared among the three genotypes. Results The distributive frequency of CC, CT, or TT genotype of CAD group and healthy group was different from one another, and the proportion of the TT genotype or the T allele was obviously higher in CAD group than in healthy group (P

0.05). Conclusion The genotypes of ABCA1 R1587K polymorphism were associated closely with the plasma levels of HDL-C. The HDL-C levels of K allele carriers were remarkably lower. However, there was no significant association of the ABCA1 R1587K polymorphism and the susceptibility to CAD.

Aged ; Antigens, CD20 ; metabolism ; CD57 Antigens ; metabolism ; Diagnosis, Differential ; Follow-Up Studies ; Hodgkin Disease ; immunology ; pathology ; surgery ; Humans ; Leukocyte Common Antigens ; metabolism ; Lymphocytes ; pathology ; Lymphoma, B-Cell ; pathology ; Male

Objective:To explore diagnostic value of basic head-up tilt table test (HUT)and sublingual nitroglycerin head-up tilt table test (SNHUT)on vasovagal syncope (VVS).Methods:A total of 61 patients,who collapsed be-cause of unknown causes and were highly suspected as VVS,were regarded as VVS group,received HUT,and an-other 22 healthy subjects were regarded as healthy control group.Results:Among the 61 cases of VVS group,57 ca-ses were tilt test positive and the positive rate was 93.44%.Among them,there were 16 cases (26.23%)with posi-tive basic HUT and 41 cases (67.21%)with positive SNHUT.The 22 cases in healthy control group also received basic HUT and SNHUT,one case (4.54%)was basic HUT positive and three cases were SNHUT positive.Positive rates of SNHUT was higher than that of HUT,but there was no significant difference in VVS group (χ2 =0.175,P =0.683).Conclusion:HUT is a noninvasive,repeatable method easily accepted by patients for diagnosing VVS currently.It can elevate positive rate of test when combined with SNHUT.

With the rapid development of Picture Achieving and Communication System(PACS), the interpretation of medical images has been changing rapidly from a procedure based on films and light boxes to one based on computers and medical displays. The function parameters of Soft-Copy Reading carriers——medical grayscale display play an important part in radiodiagnosis because they can greatly influence the quality of medical image. It is very easy for quantitative assessment of this influence by using ROC curve theory, and it can direct hospital to select suitable medical display.

Electrophysiology examination is an important technique in studying amblyopia, which mainly includes electrooculography( EOG), electroretinography ( ERG), visual evoked potential( VEP). This study does not only summarizes the definition, the mechanisms and the meaning of these indexes in the relevant research progress in recent years, but also makes a comment on the controversies among the relevant research conclusions.

AIM: To observe the differences in central cornea thickness, anterior chamber depth, corneal anterior curvature and corneal posterior curvature between the Uygur and the Han nationality college emmetropia students, and analyze the relationship of corneal thickness and corneal curvature.
METHODS: More than 500 students in grade one in Xinjiang Medical University were underwent screening, 56 emmetropia eyes in Han nationality students and 51 in Uygur students were selected. Sirius corneal topography was applied to the measurement.
RESULTS: Uygur and the Han nationality college emmetropia students central cornea thickness ( Uygur:0.53±0. 03mm, Han: 0. 54±0. 03mm), anterior chamber depth ( Uygur: 2. 91±0. 26mm, Han: 3. 14±0. 25mm), corneal posterior curvature K2 ( Uygur: -6. 30±0. 23D, Han: -6. 38±0. 28D) had significant difference (P<0. 05). Corneal anterior curvature ( K1, K2 ) before and corneal posterior curvature K1 there was no significant difference (P>0. 05). Han had no significant relationship in corneal thickness and corneal anterior curvature ( r<0 ) , or in corneal posterior curvature ( r < 1 ) . Uygur has no significant relationship in corneal thickness and corneal anterior curvature (r<0), or in corneal posterior curvature (r<1).
CONCLUSION: There are significant differences between the Uygur and the Han nationality college emmetropia students in cornea thickness, anterior chamber depth and corneal posterior curvature K2. There is no significant relationship between corneal thickness and corneal curvature in Uygur and the Han nationality college students.

Objective To investigate the transactivating effect of hepatitis C virus(HCV)core protein on inducible nitric oxide synthase(iNOS)gene promoter and the molecular biological mecha- nisms of HCV pathogenesis.Methods Polymerase chain reaction(PCR)technique was employed to amplify the sequence of iNOS promoter by using HepG2 genomic DNA as template,and the product was cloned into pGEM-T vector.The iNOSp gene was cut from T-iNOSp by KpnⅠand XhoⅠ,and then was cloned into pCAT3-Basic,the constructed vector was named as pCAT3-iNOSp,pCAT3-iN- OSp was transfected into the LO_2 cell line.LO_2 cell was also cotransfected with pcDNA3.1(-)-core and pCAT3-iNOSp by FuGENE 6 transfection reagents.The LO_2 cells transfected with pCAT3-Basic was used as negative control.The activity of CAT in LO_2 cells was detected by an ELISA kit after 48 hours,which reflected the transactivating function of HCV core protein to iNOS gene promoter.Re- sults The expressive vector pcDNA3.1(-)-core and report vector pCAT3-iNOSp had been construc- ted and confirmed by restriction enzyme digestion and sequencing.The expression of CAT in LO_2 cells transfected with pCAT3-iNOSp and peDNA3,1(-)-core was 11 times as higher as that of pCAT3-bas- ic,and 6 times as higher as that of pCAT3-iNOSp.Conclusion It is suggested that HCV core protein can transactivate iNOS gene promoter.

Objective To explore the therapeutic effect of Xiefu Zhuyu decoction joint brain protein hydrolysate injection in the treatment of patients with traumatic brain injury and its effect on cerebrospinal fluid of endothelin-1 ( ET-1 ) .Methods 102 cases of patients with craniocerebral injury were divided into control group (n=51) and experimental group (n=51),the control group were treated with brain protein hydrolyzate injection, the experimental group based on the control group were treated with Xuefu Zhuyu decoction, the curative effect, ET-1, inflammatory factor, protein, blood rheology, S-100β, neuron specific enolase (NSE), National Institutes of Health Stroke Scale (NIHSS) and complications of two groups were compared.Results The total effective rate of experimental group was higher than the control group (94.11% vs.78.43%), the difference was statistically significant (P<0.05).The ET-1 of experimental group was lower than the control group[(32.45 ±4.05) ng/L vs.(28.11 ±3.50) ng/L] (P<0.05).The inflammatory factor, protein, blood rheology, NSE, S-100βof experimental group were better than those of control group (P<0.05). The NIHSS of experimental group was lower than that of the control group ( P <0.05 ) .The complication rate had no difference between two groups. Conclusion The clinical curative effect of Xiefu Zhuyu decoction joint brain protein hydrolysate injection in the treatment of traumatic brain injury , can reduce cerebrospinal fluid levels of ET-1 and can improve inflammatory factors, proteins and hemorheology.