Tumor morphology from the microscopic appearance has being served as the basis of tumor classification,but has serious 1imitations.Molecular aberrations,including DNA,RNA and protein,ale playing an ever increasing role in guiding classification,prognosis,and therapeutic strategies in cancer patients.A specific molecular profile correlating with important clinical parameters should allow physicians to base management decisions on the molecular characteristics of an individual patient's tumor.The application of high-throughput technologies to tumor,3 should make it possible to generate comprehensive molecular profiles.The integration of clinical,morphological and molecular data could result in a more precise classification of cancers,and lead to better understanding,individualized predicting and treatment,which would give the maximum benefit to the patients.

Objective：Our aim was to investigate the proportion of autosomal recessive (AR) inheritance among families with patients with Duchenne muscular dystrophy (DMD) and clinical feature in patients with AR form of DMD. Methods:A total of 193 families was studied， 8 of them with at least one girl with “DMD - like” phenotype and 185 with only boys with this kind of phenotype. Based on the number of families with at least one affected girl and the number of patients per sibship among these pedigrees, the proportion of families with DMD inherited as an AR trait was estimated. The clinical examination, family history and serum creatine-kinase were studied in 11 patients diagnosed as AR form of DMD. Results: The proportion of families with AR form of DMD was estimated as 9.4%. The average age of being able to walk is (1.47±1.00) year, serum creatine-kinase levels were (2785.10±1500.29) U/L. The clinical symptom occurred at the average age of (8.11±4.32) year in patients with AR form of DMD. Conclusion： The AR form of muscular dystrophy and DMD not be distingushed clinically. Some families with only affected boys diagnosed as typical DMD, in fact, have the AR form of the disease. This study is very useful for genetic consulting.

Objective To evaluate septin-9 and clusterin protein levels in the peripheral blood samples from epithelial ovarian cancer patients, and explore its clinical significance. Methods Clinical data of 200 patients in Cancer Hospital,Chinese Academy of Medical Sciences from Jan. 29, 2008 to Feb. 1,2010 were collected. The peripheral blood samples were obtained from 137 epithelial ovarian cancer patients, 12 borderline ovarian tumor patients, 10 benign ovarian tumor patients, 41 benign pelvic lesion patients and 58 healthy women. The septin-9 and clusterin protein levels in the plasma were measured by double antibody sandwich ELISA or ELISA. The clinical significance of clusterin and septin-9 in plasma was analyzed. The diagnostic efficacy of septin-9 and clusterin protein in the detection of ovarian cancer was evaluated by the area under the curve (AUC) of the receiver operating characteristic (ROC) curve. Results Double antibody sandwich ELISA showed: the mean levels of plasma septin-9 in epithelial ovarian cancer patients or benign pelvic lesion patients were significantly higher than that in healthy women detedted by double antibody sandwich ELISA (P<0.01). The mean levels of plasma septin-9 in epithelial ovarian carcinoma patients with tumor family history or distance metastasis were significantly higher than those patients without (P<0.05). While the expression level of septin-9 protein in peripheral blood of ovarian cancer patients was not related to the patient age, pathologic stage, pathologic differentiation, smoking history, treatment history (including surgery, radiotherapy and chemotherapy) and lymph node metastasis (all P>0.05). ELISA showed: the mean level of plasma clusterin in epithelial ovarian cancer patients was significantly higher than that in healthy women deteded by ELISA (P=0.021). The expression level of clusterin protein in peripheral blood of ovarian cancer patients was not related to the above clinical pathological parameters (all P>0.05). To distinguish between ovarian cancer patients and healthy women by septin-9 protein expression level in plasma, when AUC was 0.712 and cut off was 0.28, the sensitivity of detection ovarian cancer by septin-9 protein expression was 82.5%, and the specificity was 50.0%. To distinguish between ovarian cancer patients and healthy women by clusterin protein expression level in plasma, when AUC was 0.636 and cut off was 87.96 pg/L, the sensitivity of detection ovarian cancer by clusterin protein expression was 71.5%, and the specificity was 41.4%. Conclusions The expression of septin-9 and clusterin protein in peripheral blood of ovarian cancer patients is increased, especially the expression level of septin-9 protein with related to the distant metastasis. The study results shown that the detection of septin-9 and clusterin in plasma has a certain diagnosis value in ovarian cancer, which may be a potential markers for ovarian cancer.

Objective To evaluate the diagnostic value of multi-slice spiral CT (MSCT)for traumatic spleen and liver rupture.Methods We made a retrospective analysis of 140 cases of liver and spleen injury with clinical manifestations confirmed by operation.MSCT examination results and clinical data were compared.Results Of the 140 cases,male patients outnumbered female ones,and the peak age was 10 - 30 years old.The injuries were most commonly attributed to traffic accident and falling.There were 69 (49%)cases of spleen injury,5 1 (36%) cases of liver injury,and 20 (14%)cases of both.Liver and spleen injuries showed on MSCT examination were liver and spleen laceration, hematoma within the liver and spleen as well as hematoma beneath the envelop. Conclusion MSCT has an important diagnostic value for traumatic liver and spleen rupture and thus can guide clinical treatment choice.

OBJECTIVE:To study the safety of Jaundice-abating Chinese Herbal Lotion for External use through animal skin susceptibility test so as to provide references for its clinical application.METHODS:Skin and systemic susceptibility tests were conducted in accordance with the pertinent standards issued by our country.RESULTS:Neither skin allergic reaction nor systemic allergic reactions were noted for jaundice-abating Chinese Herbal Lotion for external use.CONCLUSION:Jaundice-abating Chinese Herbal Lotion for external use meets the clinical requirements in the skin susceptibility test.This drug was proved to be safe in the local or systemic application,and it can be used in the clinic through systemic tub bath.

Aim To investigate the effects of 17β-es-tradiol on the apoptosis induced by ketamine in primary cultured cortical neurons. Methods Primary cultured cortical neurons were treated with different concentra-tions of ketamine or 17β-estradiol respectively. 24 hours after various treatments, neuron viability was measured by MTT assay. The structure of neurons was analyzed using microscope. Apoptotic neurons were de-termined by the TUNEL assay. The level of pAkt ex-pression was analyzed by Western blot. ResultsCompared with the control group, ketamine decreased neuron viability in a dose-dependent manner. Com-pared with ketamine group, 17β-estradiol increased neuron viability in a dose-dependent manner. Lack of three-dimensional sense,faded color,uncleared outline
were observed, and fractured neuron axons or neurons death were also observed in neurons treated by 100μmol · L-1 ketamine. 100 μmol · L-1 ketamine in-creased the number of apoptotic neurons and decreased the expression of pAkt. 0.1 μmol · L-1 17β-estradiol decreased the number of apoptotic neurons and in-creased the expression of pAkt. LY294002 inhibited the protective effects of 17β-estradiol, the number of apoptotic neurons increased, and the level of pAkt de-creased significantly. Conclusion 17β-estradiol ex-erts the neuroprotective effects against ketamine-in-duced neuroapoptosis by activating the PI3 K/Akt sig-naling pathway.

Objective To identify the expression of DLK1 protein in different types of renal cell carcinomas and its correlations with pathological characteristics and metastasis. Methods Immunohistochemistry analysis was performed to evaluate the expression of DLK1 protein in 94 cases of primary clear cell renal cell carcinoma, 76 cases of papillary renal cell carcinoma, 45 cases of chromophobe renal cell carcinoma, 71 cases of distal metastatic and 24 cases of lymph node metastatic clear cell renal cell carcinoma, as well as 18 cases of normal renal tissue. The correlations of DLK1 protein expression with pathological characteristics were analyzed. Results DLK1 protein was expressed in proximal and distal renal tubular epithelial cells in all the normal renal cases. In contrast, DLK1 protein expression was lower in different types of renal cell carcinoma. The low or negative expression of DLK1 protein in clear cell renal cell carcinoma, papillary renal cell carcinoma and chromophobe renal cell carcinoma was 33.0% (31/94), 27.6% (21/76) and 33.3% (15/45), respectively. Compared to normal renal tissue, DLK1 protein expression was significantly down-regulated in renal cell carcinomas (P＞0.05), whereas there was no significant difference on DLK1 protein expressions among the different types (P＞0.05) of renal cell carcinomas. DLK1 protein expression was not correlated with sex (60 male and 34 female cases), age (≥55, 50 cases and 55, 44 cases), grade (41 cases in grade I, 9 cases in grade II, 21 cases in grade III and 23 cases in grade Ⅳ respectively) and lymph node metastasis (76 cases with and 18 cases without lymph node metastasis) in clear cell renal cell carcinoma (P＞0.05). There was also no significant difference among primary, lymph node and distal metastatic lesions of clear cell carcinoma (P＞0.05). Conclusions DLK1 protein expression is commonly down-regulated in different types of renal cell carcinomas. Down-regulation of DLK1 protein expression is not associated with pathological characteristics and metastasis in clear cell renal cell carcinoma.

Objective To investigate the copy number changes on chromosome 3q26. 1 in urothelial carcinoma of the bladder, and to explore its potential clinical significance. Methods The microarray-based comparative genomic hybridization (Array-CGH) approach was used to analyze the genome-wide copy number changes of 35 tumor tissue samples of bladder cancer. To confirm the loss of a small fragment in 3q26. 1 detected by Array-CGH, real-time fluorescent quantitative polymerase chain reaction (real-time PCR) was performed with 57 frozen tumor tissue samples and 34 formalinfixed paraffin-embedded (FFPE) tumor tissue samples. The urine sediment cells collected from 15 healthy volunteers and 29 bladder cancer patients were checked as above. Results The Array-CGH data showed that the copy number loss of a small fragment in 3q26. 1 was detected in 77.1% (27/35)of the tumor tissue samples investigated. Real-time PCR analysis validated this loss of a small fragment of 3q26.1 with high frequencies in both 57 frozen tumor samples and 34 FFPE tumor samples.The percentage of samples exhibiting loss was 78.9% (45/57) and 100. 0% (34/34) respectively.Furthermore, the relative copy number of the 3q26.1 small fragment was significantly lower in the urinary sediment cells of the patients (median=0. 0020), comparing with that of healthy controls (median=0. 0030) (P＜0.01). Conclusions Loss of the small fragment in 3q26.1 could be a characteristic genetic change of urothelial carcinoma of the bladder. It may serve as a potential molecular marker for bladder cancer.

Purpose To investigate the diagnosis,differential diagnosis and clinical manifestation of primary plasma cell leukemia (PPCL) and lymphoma with increased plasma cell.Methods Through clinical data and cell morphology,flow cytometry (FCM),immunofixation electrophoresis and immunohistochemistry of EliVision two-step examination were used to analyze 7 cases of PPCL and 3 cases of lymphoma with increased plasma cell.Results All patients with PPCL and lymphoma with increased plasma cell presented with anemia,thrombocytopenia,fever,liver and spleen and lymph node swelling.The proportion of plasma cells in peripheral blood morphology were larger than 20％,accompanied by morphological abnormality.FCM of peripheral blood showed all 7 cases of PPCL expressed CD38 and CD138,CD56 expression in the 2 cases and CD20 in the 2 cases.The light chain (Lamda,Kappa) showed a monoclonal restricted expression,which was consistent with the diagnosis of PPCL.CD19 and CD45 were weakly positive in 3 cases of lymphoma with increased plasma cell,CD38 and CD138 were positive,and no restricted expression was found in light chain IgL,wich belonging to the immunophenotypes of normal plasma cells.Of 3 cases of light chain (Ig) without restrictive expression,2 of them were angioimmunoblastic T-cell lymphoma (ATCL) and 1 case was CD30-positive sinusoidal large B-cell lymphoma (CD30 + SLBCL) that confirmed by lymph node biopsy and pathological examination.Conclusion The PPCL and lymphoma with increased plasma cell have the same clinical manifestations and similar morphological characteristics of blood cells.The diagnosis of PPCL should be combined with immunoelectrophoresis and FCM,and the diagnosis of lymphoma with increased plasma cell needs to be confirmed by histological examination of lymph nodes.

Objective To demonstrate the feasibility of DTI in human calf with body phased-array coil and surface coil of spine as receiving coil on 3 T system, and to optimize the parameters of sequence, including slice thickness and b-value. Methods Fifteen healthy volunteers were recruited in this study and randomly divided into three groups. The DTI sequence for head was performed on calf in the first group (5 cases), and the sequence parameters were optimized based on the deficits of the raw and the post-processed DTI images. Then, different slice thickness were applied in the senond group (5 eases) to optimize the slice thickness, and this optimized parameter with the highest score based on quality of the post-processed DTI images was applied in the next step. Finally, different b values were applied in the last group to optimize this parameters. The b value with the highest score based on the quality of the pest-processed was the proper one. Results Three problems existed in the raw and the pest-processed images, when the DTI sequence for brain was used for the calf. First, the SNR of raw images is extremely low. Second, the muscle were unclear on the image with parts of signal lose, especially in the anterior tibialis muscle. Finally, the artifacts due to chemical shift and ghost are quite serious. The scores for muscle display quality with slice thickness of 4 mm , 5 mm and 6 mm were (7.0±0. 0), (8.6±0. 9) and (9.0±0. 0) score respectively, the signal less scores were (5.0±0. 0) and ( 12. 8±2. 6) and ( 13. 8±2. 2) score respectively, and the general score were (22. 0±0. 0) and (30. 1±3.8) and (31.0±4. 1 ) score respectively. The differences of above scores were significant among different slice thickness (F-value were 21. 000 and 30. 544 and 12. 390 respectively, P <0. 05 ). The muscle displaying quality, signal loss and general scores were lowest in group with 4 mm slice thickness (q-value were 4. 896.6. 120,6. 327,7. 138,3. 863 and 4. 043, P < 0. 05 ) o The scores of muscle display quality, signal loss and general for b =400 s/mm2 were (9. 0±0. 0), ( 14. 0± 2. 2 ) and ( 33.0±2. 2 ) score respectively, which were lower than those with b = 800 s/ram2 [(7.0±0.0), (6.2±2.2), (21.8±3.4) score] and b=1000 s/mm2[(7.0±0.0), (5.0±0.0), (20.6±2.2) score] (q-value were 3.873,3.873,6.650,7.672,7. 101 and 5.917, P <0.05)o The scores of muscle displaying quality, signal loss and general for b =600 s/mm2 were (8.2±1.1 ), ( 13.0± 2. 3) and ( 30. 8±3. 8 ) score respectively, which were higher than those with b = 800 s/mm2 and b= 1000 s/nun2 (q-value were 3.873, 3.873, 5.797, 6.820, 5.326 and 5.917, P <0.05).There is no significant difference between b = 600 s/ram2 and 400 s/ram2 ( q-value were 2. 582 and 0. 852 and 1. 775, P > 0. 05 ). Conclusion Our preliminary findings indicate that it is feasible to perform DTI on human calf with 3 T MR. With body phased-array coil and surface coil of spine as receiving coil, the DTI sequence were optimized to acquire enough SNB with slice thickness of 5 mm and b-value of 400 s/mm2.