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

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.

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.

Purpose：To study the incidence of pneumonia, pathogenic bacteria and prognosis in patients with neoplasm after chemotherapy.Methods：Sputum culture was made by routine method. Then,to determine the kinds of bacteria bioMrieux ATB expression was used, and general drug-sensitivity test was done by Kirby-Bautr method.Results：Fever occured in 27.3% patients after chemotherapy, while pneumonia in 11.3% patients. 13 kinds of bacteria, 72 strains of bacteria and 2 kinds of fungi were found in 68 positive culture samples. The infection rates were 76.5% in infection of single bacteoia，23.5% in infection of two kinds of bacteria and 22.1% in bacteria with fungi. The infection rate of gram-negative bacteria is much higher than that of gram-positive ones (P＜0.01).Conclusions：The incidence of pneumonia in the hospital is higher in patients with neoplasm after chemotherapy. Most pathogenic bacteria are gram-negative and sensitive to aminoglycosides, piperacillin and norfloxacin.

[Objective]To report the polyaxial locking plate and its primary clinical results in the treatment of the tibial plateau fractures.[Method]From July 2006 to August 2007,38 patients with tibial plateau fractures,including 26 males and 12 females,were treated with surgical reduction and internal fixation with polyaxial locking plate.The mean age of the patients was 30.6 years(18-65 years).According to Schatzker classification,there were 3 of type Ⅰ,5 of type Ⅱ,5 of type Ⅲ,6 of type Ⅳ,16 of type Ⅴ,3 of type Ⅵ,of which 34 were closed fractures and 4 open fractures.The follow-up period ranged from 7 to 18 months with a mean of 13.7 months.Function of the knees were assessed according to HSS system and radiological examination.[Result]Solid arthrodesis were obtained in all patients at 3-6 months after operation.Skin flap necrosis and incision infection happened respectively in 2 cases of type Ⅴ and type Ⅵ fractures.The score of HSS system was 92.8(range 78-98) averagely half year after operation and no reduction loss was observed.[Conclusion]The polyaxial locking plate is an effective fixation technique for the surgical treatment of the tibial plateau fractures because of its convenience and stability.The locking screws can be implanted in various directions and reduction loss is avoided post-operation.

Objective To investigate the gene variation and the dependability and to evaluate the possible tumor suppressor genes on chromosome 9 in the development and progression of EC. Methods LOH was detected in normal esophageal mucosa, high-grade squamous dysplasia and esophageal squamous cell carcinoma by microdissection, polymerase chain reaction, denaturing polyacrylamide gel eleetrophoresis and silver nitrate staining technology. The changes of LOH at six microsatellite markers and the relationship between LOH rate were analyzed. Results In the informative cases, total frequency of LOH was 17.2 % in high-grade squamous dysplasia and 24.9 % in esophageal squamous cell carcinoma. In high grade squamous dysplasia and squamous cell carcinoma, LOH was detected at marker D9S162 (20.8 %, 36.7 %), D9S171 (33.3 %, 36 %), D9S753(34.8 %, 46.2 %), D9S1748(4.2 %, 13.8 %), D9S242(14.3 %, 21.2 %), D9S43(0, 0). The frequency of LOH showed significant difference among the six microsatellite markers (X2=17.26, P< 0.005; X2=22.66,P<0.005). Conclusion The progression from normal squamous epithelium to high-grade Squamous dysplasia and subsequently to squamous cell carcinoma of the esophagus is associated with accumulation of chromosomal change. The situs of D9S171, D9S162, D9S242, D9S753 exist higher LOH and all exceed 20 %. Possible tumor suppressor genes at or near D9S171, D9S162, D9S242, D9S753 may be related to the progression of esophageal squamous cell carcinoma.

Child ; Humans ; Myelodysplastic Syndromes ; diagnosis ; Prognosis

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.

Objective To investigate the effects of dexamethasone (DEX) on vascular endothelial growth factor( VEGF) in cerebrospinal fluid of rabbits with bacterial meningitis. Methods A total of 36 rabbits were assigned to study,which were randomly divided into meningitis model group (MOD) .dexametha-sone-treated group (DEXT) and control group( CON). CSF was sampled for determining at 6 h, 12 h and 24 h after injection of E. coli suspension. The concentration of VEGF in every CSF sample was determined quantitatively by ELISA. Results There were higher concentrations of CSF VEGF at6h,12h and 24hin M0D(( 1219 ±176) ng/L,( 1343 ±160) ng/L,(981 ±134) ng/L) than that in CON( (374 ±172) ng/L, (370 ± 169) ng/L,(367 ± 171) ng/L) (P<0.01). There was higher brain water content in M0D( (80.8 ± 0.5) % ) than that in CON( (80.0 ± 0.5) % ) (P < 0.01). There was positive correlation between the brain water content and the concentration of CSF VEGF at 24 h( r - 0.919,P < 0.01). Compared with MOD, the concentrations of CSF VEGF in DEXT at 6 h, 12 h,24 h ((941 ±147) ng/L, (1083 ± 123) ng/L, (825 ± 66) ng/L) were decreased significantly(P <0.05), the brain water content was less ((80.4 ±0.5) %) (P < 0.05). Conclusion The secretion of VEGF markedly increases in the pathological process of bacterial meningitis. VEGF contributes to the damage of blood brain barrier and the formation of brain edema. DEX can decrease the degree of brain edema by suppressing the generation of VEGF and lightening the damage of blood brain barrier.