Objective To investigate the prevalence of BRCA1/2 gene mutations among Uygur and Han sporadic breast cancer patients in Xinjiang Uygur Automous.Methods Polymerase chain reaction ( PCR) and DNA se-quencing was used to detect mutations of BRCA1(exons 2, 11(11A and 11B) and 20) and BRCA2(exon 11) genes in the Paraffin imbedding tissues from 230 sporadic breast cancer patients ( 115 Uygur and 115 Han ) in Xinjiang Uygur Automous.Results In the 230 cases of sporadic breast cancer patients, 16 cases have gene mu-tation ( 16/230 ,6.96%) .One case of BRCA1 gene in 16 cases of mutations -5 382 locus mutation and 7 cases of new mutations.There was 2 germline mutation in exon 11 of BRCA2 gene.BRCA gene mutation rates of Uygur and Han patients were 7.83% ( 9/115 ) and 6.09% ( 7/115 ) .The onset age of mutations group were 50 or less.Mutations group of patients with amenorrhea ( 3 ) were less than whom were premenopausal ( 13 ) ( P <0.05 ) .Conclusions The prevalence of BRCA1 mutations was significantly higher than BRCA2 in sporadic breast cancer patients of Xinjiang.

Adenoma ; metabolism ; pathology ; Adult ; Alkaline Phosphatase ; metabolism ; Antibodies, Monoclonal, Murine-Derived ; metabolism ; Diagnosis, Differential ; Ear Canal ; Ear Neoplasms ; metabolism ; pathology ; radiotherapy ; surgery ; GPI-Linked Proteins ; metabolism ; Humans ; Isoenzymes ; metabolism ; Lymphoma, Large-Cell, Anaplastic ; metabolism ; pathology ; Male ; Mast-Cell Sarcoma ; metabolism ; pathology ; Proto-Oncogene Proteins c-kit ; metabolism ; Seminoma ; metabolism ; pathology ; radiotherapy ; surgery ; Vimentin ; metabolism ; Young Adult

12E7 Antigen ; Adnexa Uteri ; surgery ; Adult ; Aged ; Aged, 80 and over ; Antigens, CD ; metabolism ; Cell Adhesion Molecules ; metabolism ; Diagnosis, Differential ; Female ; Follow-Up Studies ; Granulosa Cell Tumor ; drug therapy ; metabolism ; pathology ; surgery ; Humans ; Hysterectomy ; methods ; Inhibins ; metabolism ; Middle Aged ; Neoplasm Recurrence, Local ; Neoplasm Staging ; Ovarian Neoplasms ; drug therapy ; metabolism ; pathology ; surgery ; Survival Rate ; Vimentin ; metabolism

Adolescent ; Adult ; Aged ; Antineoplastic Combined Chemotherapy Protocols ; therapeutic use ; Child ; Cyclophosphamide ; therapeutic use ; Diagnosis, Differential ; Doxorubicin ; therapeutic use ; Female ; Follow-Up Studies ; Humans ; Ki-1 Antigen ; metabolism ; Leukocyte Common Antigens ; metabolism ; Lymphoma, Extranodal NK-T-Cell ; metabolism ; pathology ; Lymphoma, Large B-Cell, Diffuse ; metabolism ; pathology ; Lymphoma, Large-Cell, Anaplastic ; drug therapy ; metabolism ; pathology ; Male ; Melanoma ; pathology ; Middle Aged ; Mucin-1 ; metabolism ; Neoplasms, Muscle Tissue ; metabolism ; pathology ; Prednisone ; therapeutic use ; Receptor Protein-Tyrosine Kinases ; metabolism ; Retrospective Studies ; Vincristine ; therapeutic use ; Young Adult

OBJECTIVE: To study the correlation between the bacterial biofilm formation and bacterial culture in chronic otitis media. METHOD: As a prospective reserch, we used scanning electron microscopy to examinate patients samples which collected from 32 cases of patients with chronic suppurative otitis media and middle ear cholesteatoma in the operations, and performed the middle ear secretions bacterial culture. According to the different types of chronic otitis media group, we analysised the relationship between chronic otitis media bacterial biofilm formation and the bacterial culture results. RESULT: Chronic suppurative otitis media (activity) and middle ear cholesteatoma bacterial biofilm formation rate were 87.5%, 81.3%, chi-square (P > 0.05). Compared bacterial biofilm results with the results of bacterial cultured in chronic otitis media, sensitivity was 70.37%, specificity was 60.00%, the misdiagnosis rate was 40.00%, the missed diagnosis was 29.63%, positive predictive value was 90. 46%, negative predictive value was 27.27%, accuracy was 68.75%. Youden index was 30. 37%, and Pearson correlation coefficient was 0.232 (P > 0.05). CONCLUSION Chronic suppurative otitis media (activity) and middle ear cholesteatoma bacteria had a higher biofilm formation rate. The routine bacterial culture results can't reflecte bacterial biofilm formation in chronic otitis media. We need to explore more reliable experimental methods to accurately reveal the infection status of chronic otitis media.
Adolescent ; Adult ; Bacteria ; growth & development ; Biofilms ; Cholesteatoma, Middle Ear ; microbiology ; Chronic Disease ; Female ; Humans ; Male ; Middle Aged ; Otitis Media, Suppurative ; microbiology ; Sensitivity and Specificity ; Young Adult

OBJECTIVETo study the role of arginase-1 (Arg-1) expression in differential diagnosis of hepatocellular carcinoma (HCC), Arg-1 staining pattern in clear cell neoplasm (HCC and non-HCC) and Arg-1 expression in non-hepatocellular tumors.

METHODSSeventy-eight cases of HCC (including 8 cases of clear cell type and 70 cases of non- clear cell type) and 246 cases of non-hepatocellular neoplasms (including 29 cases of metastatic tumors such as breast cancer, nasopharyngeal carcinoma and neuroendocrine carcinoma, 77 cases of tumors with clear cell changes such as malignant melanoma, clear cell renal cell carcinoma and alveolar soft part sarcoma, and 140 cases of other types of tumors such as ovarian endometrioid adenocarcinoma, pituitary tumor and thyroid papillary carcinoma) were studied.Immunohistochemical study for Arg-1 was performed on the paraffin-embedded tumor tissue.

RESULTSIn HCC, Arg-1 demonstrated both cytoplasmic and nuclear staining, with an overall sensitivity of 96.2% (75/78).In well, moderately and poorly differentiated HCC, the sensitivity was 15/15, 100% (41/41) and 86.4% (19/22), respectively. That was in contrast to negative staining for Arg-1 in all the 29 cases of metastatic tumors studied. The sensitivity, specificity, positive predictive value and negative predictive value of Arg-1 in distinguishing HCC from metastatic tumors was 96.2%, 100%, 100% and 90.6%, respectively. Cytoplasmic and membranous staining was observed in clear cell type of HCC. The overall sensitivity of Arg-1 expression in the 77 cases of tumors with clear cell changes was 14.3% (11/77), including 8/15 for malignant melanoma, 2/4 for ovarian clear cell carcinoma and 1/1 gall bladder adenocarcinoma with clear cell component.In malignant melanoma and ovarian clear cell carcinoma, only cytoplasmic staining was demonstrated. There was no expression of Arg-1 in the 140 cases of other tumor types studied.

CONCLUSIONSArg-1 is a sensitive and specific marker for HCC.It is a potentially useful immunohistochemical marker in distinguishing HCC from metastatic tumors. Though also expressed in malignant melanoma and ovarian clear cell carcinoma, Arg-1 shows a different staining pattern as compared with that in HCC.

Adenocarcinoma ; enzymology ; Adult ; Aged ; Arginase ; metabolism ; Carcinoma, Hepatocellular ; enzymology ; pathology ; secondary ; Cell Differentiation ; Diagnosis, Differential ; Female ; Gallbladder Neoplasms ; enzymology ; Humans ; Liver Neoplasms ; enzymology ; pathology ; secondary ; Male ; Melanoma ; enzymology ; Middle Aged ; Ovarian Neoplasms ; enzymology ; Stomach Neoplasms ; enzymology ; pathology

OBJECTIVETo study the correlation between amplification of chromosome 1 and histological typing and clinical staging of thymic epithelial tumors according to the WHO classification.

METHODSAmplification of chromosome 1 was detected by interphase fluorescence in-situ hybridization (FISH) in 60 cases of thymic epithelial tumors, including type A thymoma (2 cases), type AB (19 cases), B1 (4 cases), B2 (14 cases), B3 (11 cases), metaplastic thymoma (2 cases), and thymic carcinoma (8 cases) and 11 samples of normal thymus.

RESULTSGain on chromosome 1 was found in 19 cases (31.7%) of thymic epithelial tumors, and none was detected in normal thymic tissues (P < 0.05). The positive rates of gain on chromosome 1 were statistically different among various histological subtypes of thymic epithelial tumors (P < 0.05), in which the highest rate of detection was in thymic carcinoma (6/8), the second, type B3 (6/11), followed by type A (1/2), type AB (4/19), type B2 (2/14) and type B1 (0). The positive rate of gain on chromosome 1 in type B3 had no statistical difference from thymic carcinoma (P > 0.05), but significantly higher than that in other types of thymoma (P < 0.05). In addition, the polysomy rate of chromosome 1 was significantly different among the thymic epithelial tumors at different clinical stages (P = 0.023), and that at stages III and IV was statistically higher than that in stages I and II (P = 0.003) but there was no significant difference between stage I and stage II tumors (P = 0.750).

CONCLUSIONSGain on chromosome 1 is more common in thymic carcinoma and type B3 thymoma than that in other subtypes of thymic epithelial tumors. Thymoma of type B3 may have different genetic features from other subtypes. Detection of gain on chromosome 1 by FISH is helpful in the differential diagnosis and prediction of prognosis in patients with thymic epithelium tumors.

Adult ; Aged ; Carcinoma, Squamous Cell ; genetics ; pathology ; Chromosomes, Human, Pair 1 ; genetics ; Female ; Follow-Up Studies ; Gene Amplification ; Humans ; Male ; Middle Aged ; Neoplasm Staging ; Polyploidy ; Prognosis ; Thymoma ; classification ; genetics ; pathology ; Thymus Neoplasms ; classification ; genetics ; pathology

Objective To investigate the effects of endothelial progenitor cells(EPC)-derived microp-articles(MPs)with different injury treatments on EPC.Methods EPC cells were cultured and EPCs were i-dentified by flow cytometry.EPCs were treated with high glucose(HG)and tumor necrosis factor(TNF)-a recombinant protein,and MPs were extracted.The structural changes of microtubules,Golgi bodies and other organelles in EPC were observed by transmission electron microscopy.MTT assay was used to detect cell pro-liferation.Cell scratch assay was used to evaluate cell migration ability.Cell lumen formation assay was used to detect lumen formation.The expression levels of endothelial nitric oxide synthase(eNOS),silent informa-tion regulator 1(SIRT1),rat sarcoma(RAS)and extracellular regulated protein kinase(ERK)in EPC after different treatments were detected by quantitative real-time fluorescence PCR(qPCR)and Western blot.Re-sults Compared with the control-EPC-MPs group,the microtubule structure of the HG-EPC-MPs group and the TNF-α-EPC-MPs group was complete,the length was shortened,and the Golgi structure was relatively complete.Compared with the control-EPC-MPs group,the proliferation rate of EPC in the HG-EPC-MPs group and the TNF-α-EPC-MPs group was down-regulated,the cell migration ability was decreased,and the tube formation was decreased(P＜0.05).Compared with the control-EPC-MPs group,the mRNA and protein expressions of eNOS,SIRT1,RAS and ERK in the HG-EPC-MPs group and the TNF-α-EPC-MPs group were down-regula-ted(P＜0.05).Conclusion HG and TNF-α mediated MPs derived from EPC injury may change the structure of organelles in EPC by regulating the expression of SIRT1/ERK1 pathway proteins,thus affecting the biolog-ical function of EPC.

Cardiovascular disease(CVD)is a major cause of human death and a serious threat to people's health.Therefore,it is very important to explore the early identification,diagnosis and effective treat-ment of CVD.The expression level of microRNA(miRNA)is related to many pathophysiological processes related to CVD,such as myocardial cell metabolism disorder,myocardial cell injury and myocardial fibrosis,which makes miRNA an important entry point for the diagnosis and treatment of CVD.MicroRNA-126(miR-126)is one of the most important biological markers in the miRNA family.It plays a role in protecting the myocardium by participating in angiogenesis,endothelial cell repair,and inhibition of inflammatory responses.This article reviewed the latest research progress on the mechanism,diagnostic significance and potential ther-apeutic value of miR-126 in the occurrence and development of various types of CVD.

OBJECTIVETo study the clinicopathologic features and differential diagnosis of blastic plasmacytoid dendritic cell neoplasm.

METHODSThe clinical, morphology and immunophenotypic features were analyzed in 3 cases of blastic plasmacytoid dendritic cell neoplasm, with review of literature.

RESULTSThe pathologic changes of these tumors accorded with that of blastic plasmacytoid dendritic cell neoplasm, and they also had new characteristics, including lineage other than T, B, myeloid and NK cells, and immunophenotypes of CD56(+) CD4(-) CD123(+) TdT(+) CD43(+) CD68(+) , CD56(+) CD4(+) CD123(-) TdT(+) CD43(+) CD68(-) and CD56(+) CD4(+) CD123(-/+) TdT(-) CD43(+) CD68(+) in the 3 cases, respectively. Bone marrow involvement was found 5 years later in case 1, and was then stable after chemotherapy; case 2 and case 3 were died 5 and 2 months after diagnosis, respectively.

CONCLUSIONBlastic plasmacytoid dendritic cell neoplasm is a heterogeneous group of lymphoproliferative disorders, with different clinical, morphologic and immunophenotypic features.

Adolescent ; Antineoplastic Combined Chemotherapy Protocols ; therapeutic use ; Bleomycin ; therapeutic use ; CD56 Antigen ; metabolism ; Cyclophosphamide ; therapeutic use ; Dendritic Cells ; metabolism ; pathology ; Diagnosis, Differential ; Doxorubicin ; therapeutic use ; Female ; Follow-Up Studies ; Hematologic Neoplasms ; drug therapy ; metabolism ; pathology ; Humans ; Interleukin-3 Receptor alpha Subunit ; metabolism ; Leukemia, Myeloid ; metabolism ; pathology ; Lymphoma, Extranodal NK-T-Cell ; metabolism ; pathology ; Lymphoma, T-Cell, Peripheral ; metabolism ; pathology ; Male ; Middle Aged ; Precursor Cell Lymphoblastic Leukemia-Lymphoma ; metabolism ; pathology ; Prednisone ; therapeutic use ; Skin Neoplasms ; drug therapy ; metabolism ; pathology ; Treatment Outcome ; Vincristine ; therapeutic use