Objective:To investigate the oral Candida albicans(CA)distribution in Uyghur children and to explore the gene type of CA in the children with high caries.Methods:The oral CA of 144 Uyghur children aged 3 -5 years was detected and identified by CHROMagar Candida medium culture,biochemical identification and PCR respectively.Gene type in 25 samples of high caries was de-tected by PCR25r-genotyping.Results:CA was found in 35(24.3%)of the children,and 25 of them with high caries.The gene type of CA was divided into type A,B and C,A was the major(72.0%).Conclusion:Oral Candida albicans may be related to childhood caries of Uygur population.Candida albicans with genotype A may be more cariogenic in Uygur children.

Objective To assess the feasibility of nuclear matrix protein 22(NMP22)and urinary bladder cancer,antigen (UBC) for the early diagnosis of bladder transitional cell carcinoma and its influencing factors.Methotis 105 subjects,including 60 patients of bladder cancer,25 patients of urological benign disease and 20 normal (healthy)individuals were enrolled in this study.Urine NMP22 and UBC wag assessed by enzyme-linked immunosorbent assay(ELISA).Urine NMP22 and UBC as well as exfoliocytology were conducted for the purpose to compare the sensitivity,specificity,positive and negative predictive value of these three ways.Results The sensitivity of NMP22(88.3%)and UBC(86.7%)were significantly better than exfolioeytology(40.0%,P<0.01).The specificity of NMP22,UBC and exfoliocytology were 80.0%,84.0%and 92.0%,respectively, the positive predictive values were 91.4%,92.9%and 92.3%,and the negative predictive values were 74.1%.72.4%and 38.9%.Conclusions NMP22 and UBC are sensitive,specific,simple,feasible and noninvasive diagnostic markers for the early detection of urinary bladder transitional cell cancer.

Objective To investigate the effect on ER expression in MCF-7 cell by siRNA against survivin mediated by adenovirus vector.Methods An adenovirus vector of siRNA against survivin was constructed and used to infect MCF-7 cell.The change of expression of survivin and ER was detected by Western Blot.Results The expression strength of survivin are 0.09 ± 0.04、0.86 ± 0.08、0.82 ± 0.17;expression strength of ER are 1.57 ± 0.09、1.16 ± 0.10、1.23 ± 0.01 respectively in the experimental group,negative control group and blank control group.Statistics analysis shows that the adenovirus vector of siRNA against survivin constructed in the study can suppress the expression of survivin significantly,and suppress the expression of survivin can up-regulate the estrogen receptor (ER) expression.Conclusions The results suggest that there may be a certain regulatory mechanism between survivin and ER signal pathway in MCF-7 cell and siRNA against survivin is of important potential value in the endocrine therapy of hormone receptor positive breast cancer.

Objective To investigate the expression of GRP78 in breast cancer,the relationships among the expression and the clinicopathological characteristics,prognosis were also investigated.Methods The expression of GRP78 was detected in 172 paraffin-embedded breast cancer samples with immunohistochemistry Envision method,the relationships among the expression and the clinicopathological characteristics,prognosis were investigated.Results Positive expression of GRP78 is common in breast cancer.Strong expression of GRP78 was detected in 71 cases (41.28％),and weak expression was detected in 101 cases (58.72％).GRP78 expression wasn't associated with the clinicopathological characterristics except T stage and Her-2 status.Univariate analysis (log-rank test) showed that GRP78 expression correlated with disease free survival and overall survival significantly.Patients with strong GRP78 expression had poorer prognosis compared to those with weak GRP78 expression(P ＜ 0.05).Multivariate analysis utilizing Cox regression analysis showed that GRP78 is an independent biomarker of disease free survival (P ＜ 0.05),but not an independent biomarker of overall survival (P ＞ 0.05).Conclusions Positive expression of GRP78 is common in breast cancer and strong expression is associated with poorer survival.

0.05).The expression of bcl-2 in sham group was significantly higher than that in GC and ADX groups(P0.05)was observed.The ratio of bax to bcl-2 in sham group was significantly lower than that in GC and ADX groups(P

Objective To set up a new diagnostic platform based on microarray exon-capture and next-generation sequencing for detecting small mutations in dystrophin gene.The sensitivity and specificity of the method were assessed in clinical settings and the distribution of small mutations in Chinese Duchenne muscular dystrophy/Becker muscular dystrophy (DMD/BMD) patients were also analyzed.Methods Forty-one DMD/BMD patients diagnosed by the clinical criteria without large deletion or duplication (≥ 1exon) were recruited from Peking Union Medical College Hospital consecutively.Genomic DNA was extracted from blood samples.The libraries were prepared.Then exon and intron-exon flanking sequences of DMD gene were captured by custom microarray.Targeted next-generation sequencing and Sanger Sequencing were conducted.The patients who were not detected any disease-causing mutation were performed muscle biopsy.Results Thirty-eight subjects were detected small mutations in DMD gene.All single nucleotide variants (SNVs) and insertion & deletions (INDELs) were validated by Sanger sequencing.Twenty-one novel mutations were reported.The distribution of SNVs and INDELs was similar to other international DMD databases.Upon immunohistochemistry staining of dystrophin protein,1 of 3 mutation-undetected patients was diagnosed as DMD,2 of them were excluded.The specificity of the method was 100％,while the sensitivity was 97.4％.Conclusions Our microarray-captured next-generation sequencing assay could detect SNVs and INDELs with high sensitivity and specificity.Its advantages are economic,time-saving and stable.The platform is suitable for clinical gene diagnosis.

Objective To investigate the value of the cerebrospinal fluid ( CSF ) cytology in diagnosis of intracranial germinomas by reviewing the outcomes of CSF cytology of 8 patients with intracranial germinomas. Methods Eight patients with positive CSF cytology at our clinic from January 2006 to June 2009 were reviewed. Conventional cytology and immunocytochemistry of CSF were performed. The relevant literature on the subject was reviewed. Results The patients, including 7 male and 1 female, developed endocrinological or neurological symptoms at the age of 13 to 25, and the typical neurological presentation included vertigo, headache, mental and behavior disorders, double vision and weakness of legs. The CSF cell count ranged from 0 to 300 leukocytes per cubic and elevated in 7 cases, typically lymphocytic inflammation. CSF level of human chorionic gonadotropin was 3.2-1087.0 mIU/ml, higher than the individual serum level. On CSF cytology studies, typical tumor cells of germinima were found, which had positive particles in cytoplasm on periodic acid Schiff stain. All presents had lymphocyte inflammation ( small lymphocyte predominant ). On immunocytochemical studies of CSF, the tumor cells were positive on placental alkaline phosphatase and Ki-67 stains. Conclusions CSF cytology is clinically useful for diagnosis of primary intracranial germinoma. Further clinical and cytological studies will be necessary for a better understanding of the biology of these tumors.

Objective To summarize the clinical and pathological features of glycogen storage disease (GSD) type Ⅱ. Methods The clinical and pathological data of the 20 GSD type Ⅱ patients were reviewed. Results One patient with infantile-onset mainly presented hypotonia, muscle weakness, feeding difficulties, pulmonary infection and cardiomyopathy insufficiency and increase of serum creatine kinase (778 IU/L) and echographic evidence of hypertrophic cardiomyopathy were detected. Electromyography studies indicated a definite myopathy. Nineteen cases were late-onset, presenting a slowly progressive proximal myopathy with truncal involvement or with symptoms dominated by respiratory insufficiency. Not all muscles were equally affected. Increase of serum creatine kinase (208-2600 IU/L) was detected in 14 patients and normal level in 1 patient. Electromyography studies indicated a definite myopathy in 9 patients,with abnormal irritability in 1 patient and susceptible in 4 patients and myotonic discharge in 1 patient and no abnormalities in 2 patients. Echographic evidence of thickening of the interventricular septum and pulmonary hypertension were detected in 2 patients respectively. The common light microscopic feature of all case was a vacuolar myopathy with high glycogen content and acid phosphatase activity in the vacuoles. Conclusions GSD type Ⅱ often presents slowly progressive myopathy which often affect the toro and respiratory muscles.In most patients the serum creatine kinase level is elevated slightly. Muscle biopsy is of use to make the definite diagnosis of this disease.

Objective To summarize the clinical presentations, the findings of lab tests and procedures and the genetic investigation of collagen type Ⅵ related myopathy, and to help clinicians recognize and diagnose this rare disease.Methods Seven familiar or spontaneous collagen type Ⅵ related myopathy patients diagnosed by gene detection were analyzed.We emphasized on the features of clinical manifestations, serum creatine kinase level, electromyography, lower-limb muscle MRI, muscle biopsy and correlation between genotype and pZenotype.Results Among 7 patients, 3 were caused by COL6A1 mutation, 1 was caused by COL6A2 mutation and 3 were caused by COL6A3 mutation.Two patients were familiar wZile 5 were spontaneous.HigZligZted clinical presentations were proximal weakness in lower limbs and joint contrature.Serum creatine kinase level was sligZtly elevated.ElectromyograpZy sZowed sligZt myogenic damage.Muscle MRI of tZigZ sZowed distinct pattern of muscle involvement.Muscle patZology revealed dystropZic myogenic cZanges with proliferation of connective tissue between muscle fibers.Conclusions Neurologists should recognize the features of collagen type Ⅵ related myopathy, such as progressive weakness, early-onset joint contraetures, slightly elevated serum creatine kinase and selective muscle involvement on leg MRI scan, and then perform next-generation sequencing based genetic test on suspected patients.This approach would improve the diagnostic rate of the disease.

A rapid resolution liquid chromatography quadrupole time-of-flight mass spectrometric ( RRLC-QTOF/MS) method was used to profile the metabolites of urine samples from atherosclerosis ( AS) patients and healthy controls and find the differential metabolites which could provide the scientific evidence to explain the pathogenesis and early disease diagnose. In the study, 15 AS patients ( age46. 84±2. 41 years) and 15 healthy controls ( age45 . 72±1 . 93 years ) was screened out by VaSera VS-1000 . The urine samples were analyzed by RRLC-QTOF/MS and the resulting data matrices were analyzed by multivariate statistical analysis ( Principal Component Analysis, PCA ) to find the potential biomarkers. The results showed that the urine samples of AS patients were successfully distinguished from those of healthy controls. Besides, a total of two significantly changed metabolites, uric acid and Guanidineacetic acid, had been found and identified as potential biomarkers, which suggested that the disorder of purine metabolism and amino acid metabolism played an important role in the mechanism of AS.