Objective Knowing the BRCA gene mutational condition of high risk triple negative breast cancer (TNBC) in Xinjiang Uygur Autonomous and acquiring the differences of clinical and pathologic characteristics between person with BRCA gene mutation and person without it by means of BRCA gene mutation testing for 30 cases of TNBC in Xinjiang Uygur Autonomous.Methods The objects of this study were 30 cases of high risk TNBC from Xinjiang.All the coded sequences of BRCA1/2 gene were amplified by means of extracting genomic DNA from peripheral venous blood.BRCA1/2 gene mutation analysis were prescreened through DHPLC.Then,the result was verified by DNA sequencing.The clinical and pathologic characteristics between person with BRCA gene mutation and person without it of 30 high risk TNBC cases were contrastively analysed.Results In all the 30 cases of BRCA gene mutation testing for TNBC in Xinjiang Uygur Autonomous,there were 5 cases of pathogenic mutations of BRCA gene (5/30,16.7 ％); 4 cases of BRCA 1 mutation (4/30,13.3 ％); 1 case of BRCA 2 mutation (1/30,3.3 ％); and there was no mutation to be found in 25 cases of BRCA gene of TNBC (25/30,83.3 ％).As compared with person without gene mutation,who with it had the characteristics of earlier of TNM,the difference was statistically significant (P =0.040).Conclusion Since the rate of BRCA1 gene mutation of high risk TNBC is higher.It is suggested that the BRCA gene of every patients with high risk TNBC should be tested.Comparing with person with BRCA gene mutation and person without it,there might have differences on clinical pathological characteristics features.Therefor,individualized treatment should be taken into consideration.

Objective:To observe the adverse reactions of killer cytokine-induced (CIK) in the treatment of malignant tumor and to analyze the possible mechanism ,and to develop the targeted prevention and treatment measures .Methods: The clinical data, including various adverse reactions , laboratory tests and the corresponding preventive measures against adverse reactions .In 1 240 patients with malignant tumor after treated with CIK cells from May 2013 to September 2015 were retrospectively analyzed .Results:The main adverse reactions after the first infusion of CIK cells were weak (10%),fever(7.25%),shiver (4%),arthralgia (3%),systemic in flammatory response syndrome reaction ( 3%) , digestive tract discomfort ( 0.96%) , acute allergic reaction ( 0.08%) , rash (0.08%),angina pectoris (0.08%),tumor lysis syndrome(0%),infection(0%).With the increase of the treatment ,the incidence of adverse reactions increased and the fever was the main performance ,after the fourth course into the platform .The combination of blood pressure increased or decreased and severe allergic reaction and systemic inflammatory response syndrome was needed to be treated .The CIK cells were pretreated before treatment could reduce the incidence of these reactions .Conclusion:CIK cells therapy is a safe and effective adoptive immunotherapy for malignant tumor and its adverse reactions can be treated expectantly , but rare adverse reactions may have potential risks .

OBJECTIVE To investigate the surgical management and its result of the cervical esophageal cancer.METHODS Forty six patients with cervical esophageal carcinoma who received surgical treatment in our hospital were included in this retrospective study.The removed hypopharynx and cervical esophagus were repaired with laryngotracheal flap in 5 cases,free myocutaneous flap in 4 patients and free jejunum in 2 patients.The inversion stripping esophagectomy without thoracotomy were performed in 35 patients.RESULTS During the early postoperative period,complications included recurrent laryngeal nerve paralysis in 2 cases,anastomotic fistula in 3 cases,anastomotic stenosis in 5 cases,Long-term postoperative gastro-esophageal reflux occurred in 19 cases.The 5-year survival rate was 28.7%. CONCLUSION The surgical treatment for cervical esophageal carcinoma should be decided by the location of the tumor,the extent of the cancer involved and lymph node metastasis.

PURPOSE: The aim of this study is to further understand the status of BRCA1 and BRCA2 mutation among Chinese high-risk breast cancer patients in multiple-ethnic regions of China. METHODS: A total of 79 blood samples of high-risk breast cancer patients from Xinjiang Uyghur autonomous region were analyzed by PCR-DHPLC sequencing analysis. RESULTS: Analysis with full length of the two genes identified a total of 6 deleterious mutations (2073delA, 2394C-T [Q759X] and IVS16+1G>A in BRCA1; 1627A-T [K467X], 6873delCTCC and 9481delA in BRCA2) in this cohort. The prevalence of BRCA1/2 germline mutation was about 7.6% (6/79) in the Xinjiang multiple ethnic region of China. Among them, 3 novel deleterious mutations, 2073delA in BRCA1 (Han ethnic Chinese) and BRCA2 variants 6873delCTCC and 9481delA (both are Kazakh ethnic Chinese), were identified and they had never been reported in breast cancer information core (BIC) database before. 2394C-T (Q759X) and IVS16+1G>A, in BRCA1 and BRCA2 variants 1627A-T were previously reported in other populations but not Chinese. Among 6 of the BRCA-related tumors, three BRCA1- and one BRCA2-associated tumors were in triple negative (estrogen receptor, progesterone receptor, and HER2 negative expressed) status and exhibited a high tumor grade. So far none of these 6 deleterious mutations were reported in ethnic Han Chinese. CONCLUSION: BRCA germline mutation in Chinese multiple ethnicity region may exhibit different genotypes compared to ethnic Han Chinese in other regions. These differences may arise from interaction of genetic background and environmental factors.
Asian Continental Ancestry Group ; Breast ; Breast Neoplasms ; China ; Cohort Studies ; Ethnic Groups ; Female ; Genetic Variation ; Genotype ; Germ-Line Mutation ; Humans ; Prevalence ; Receptors, Progesterone

OBJECTIVETo investigate the relationship between pemphigus vulgaris (PV) and human leukocyte antigen (HLA) in Han nation of northeast China.

METHODSStandard microcytotoxicity test and polymerase chain reaction-sequence specific primers method were used to detect the HLA class I antigens and HLA-DRB1 and DQB1 alleles in 27 patients with PV and results were compared with control group.

RESULTSGene and phenotype frequencies of HLA-A3, A26(10), B60(40), and B13 (27.99%, 48%; 16.11%, 30%; 23.02%, 41%; 16.11%, 30%, respectively) increased significantly in PV group compared with control (1.01%, 2%; 0.5%, 1%; 4.61%, 9%; 5.13%, 10%, respectively). After P value correction, the difference of A3, A26 (10), and B60 (40) between the two groups was still significant. The gene frequencies of HLA-DRB1*140x (1401, 1404, 1405, 1407, 1408), DRB1*120x, and DQB1*0503 alleles in PV group (42.26%, 25.46%, and 23.02%) were significantly higher than control group (5.09%, 7.74%, and 1.89%). After P value correction, the difference was still significant between the two groups.

CONCLUSIONPV significantly relates with HLA in PV patients of Han nation of northeast China.

Adult ; Aged ; Asian Continental Ancestry Group ; ethnology ; China ; ethnology ; Female ; Gene Frequency ; HLA-A Antigens ; genetics ; HLA-A3 Antigen ; genetics ; HLA-B Antigens ; genetics ; HLA-DQ Antigens ; genetics ; HLA-DQ beta-Chains ; HLA-DR Antigens ; genetics ; HLA-DRB1 Chains ; Humans ; Male ; Middle Aged ; Pemphigus ; genetics ; Phenotype

Objective:To analyze the improvement effect of monk fruit on diabetic nephropathy(DN)by network pharmacology,and to elucidate its possible related mechanism.Methods:The Traditional Chinese Medicine Systems Pharmacology(TCMSP)Database was used to detect the active ingredients and their targets of monk fruit;the DN target genes were screened out by DisGeNET Database and Genecards Database;the key targets of monk fruit against DN were obtained by comparing the monk fruit with DN targets;protein-protein interaction(PPI)network diagram was constructed by STRING Database and Cytoscape software;Gene Ontology(GO)functional enrichment analysis and Kyoto Encyclopedia of Genes and Genomes(KEGG)signaling pathway enrichment analysis were performed by Cytoscape software.Molecular docking technology was used to predict the binding abilities of the core targets and the main active ingredients of monk fruit.Results:The TCMSP Database combined with the selection criteria was used to screen out a total of five active ingredients of monk fruit(ZINC03860434,Perlolyrine,beta-sitosterol,Kaempferol,and Flazin)as well as 85 targets represented by serine/threonine protein kinase 1(AKT1),transcription factor RELA,c-Jun N-terminal kinase(JUN),and tumor necrosis factor(TNF).Among them,Kaempferol contained the most targets.Among the 85 targets,34 were associated with DN.The GO functional enrichment analysis mainly included biological process(BP)such as oxidative stress,regulation of inflammation and apoptosis,and cell signaling transduction.The KEGG enrichment analysis included advanced glycosylation end product(AGE)-receptor of AGE(AGE-RAGE)signaling pathway,TNF signaling pathway,and C-type lectin receptor signaling pathway.The results molecular docking technology of the main active ingredients of monk fruit and DN target proteins showed that 5 kinds of molecular docking engergy were-8.00--5.00 kJ·mol-1.Conclusion:Kaempferol is the most effective active ingredient in the monk fruit for the treatment of DN,and its mechanism is mainly related to anti-inflammatory.

BACKGROUNDAtopic dermatitis (AD) is characterized by defective skin barrier and imbalance in T helper 1/T helper 2 (Th1/Th2) cytokine expression. Filaggrin (FLG) is the key protein to maintaining skin barrier function. Recent studies indicated that Th1/Th2 cytokines influence FLG expression in keratinocytes. However, the role of Th1/Th2 cytokines on FLG processing is not substantially documented. Our aim was to investigate the impact of Th1/Th2 cytokines on FLG processing.

METHODSHaCaT cells and normal human keratinocytes were cultured in low and high calcium media and stimulated by either interleukin (IL)-4, 13 or interferon-γ (IFN-γ). FLG, its major processing proteases and key protease inhibitor lymphoepithelial Kazal-type-related inhibitor (LEKTI) were measured by both real-time quantitative polymerase chain reaction and Western blotting. Their expression was also evaluated in acute and chronic AD lesions by immunohistochemistry.

RESULTSIL-4/13 significantly reduced, while IFN-γ significantly up-regulated FLG expression. IL-4/13 significantly increased, whereas IFN-γ significantly decreased the expression of kallikreins 5 and 7, matriptase and channel-activating serine protease 1. On the contrary, IL-4/13 significantly decreased, while IFN-γ increased the expression of LEKTI and caspase-14. Similar trends were observed in AD lesions.

CONCLUSIONSOur results suggested that Th1/Th2 cytokines differentially regulated the expression of major FLG processing enzymes. The imbalance between Th1 and Th2 polarized immune response seems to extend to FLG homeostasis, through the network of FLG processing enzymes.

Caspase 14 ; metabolism ; Cell Line, Tumor ; Cells, Cultured ; Dermatitis, Atopic ; metabolism ; Humans ; Immunohistochemistry ; Interferon-gamma ; metabolism ; Interleukin-13 ; metabolism ; Interleukin-4 ; metabolism ; Intermediate Filament Proteins ; metabolism ; Keratinocytes ; enzymology ; metabolism ; Proteinase Inhibitory Proteins, Secretory ; metabolism ; Serine Peptidase Inhibitor Kazal-Type 5 ; Th1 Cells ; metabolism ; Th2 Cells ; metabolism

OBJECTIVETo introduce the design and application of the expanded transposition skin flap in the treatment of cheek skin defects.

METHODSThe expanded transposition flaps were divided into three types: the regular expanded transposition flap (ERT flap), the expanded transposition-advancement-transposition flap (TAT flap) and the expanded rotation-advancement-transposition flap (RAT flap). 135 cases of cheek skin defects resulted from hemangioma, scar and naevi were treated with these three types of flaps. Delay surgery was needed when the ratio of length to width was bigger than 2 : 1.

RESULTSThere were 139 expanded transposition flaps, including 17 ERT flaps, 69 TAT flaps, 53 RAT flaps. Blood supply disturbance was happened at the end of the flaps in 6 cases, including 2 ERT flaps and 4 other flaps. Other flaps had no complication. The results were satisfactory.

CONCLUSIONSThe expanded transposition skin flap is a reliable method to repair the cheek skin defect. The preoperative flap design is very important for successful reconstruction.

Adolescent ; Adult ; Cheek ; surgery ; Child ; Child, Preschool ; Female ; Humans ; Middle Aged ; Reconstructive Surgical Procedures ; methods ; Surgical Flaps ; classification ; Tissue Expansion ; Wound Healing ; Young Adult

Objective: To explore the relationship betweenrheumatoid arthritis (RA) and chronic periodontitis (CP). Methods: A total of 48 RA patients were recruited from the Rhematology Department of The First Affiliated Hospital of Shantou University Medical College (SUMC). RA patients were matched on age and gender with healthy controls, who were recruited from the Stomatology Department. Dental parameters including unstimulated salivary flow rate(UWS), stimulated salivary flow rate (SWS), bleeding on probe (BOP), periodontal probing pocket (PD), clinical attachment level (CAL) and decayed, missing and filling (DMF) were recorded in all cases. Erythrocyte sedimentation rate (ESR), C-reactive protein (CRP) and Anticyclic citrullinated peptide antibody (Anti-CCP) were also recorded in RA patients. Results : There were significant difference between RA group and health control group on salivary flow rate, BOP, PD, CAL and DMF (P< 0.001). Higher percentage of RA patients were diagnosed as periodontal disease than those in control group (P< 0.001). There was relationship between CAL and Anti-CCP antibody (P< 0.001). Conclusion RA patients have higher risk of CP, and there might be relationship between RA and CP.

Objective: To investigate the risk factors of chronic obstructive pulmonary disease (COPD) in Li and Han ethnic group in Hainan, China. Methods: All subjects were randomly selected from various regions in Hainan. General characteristics were compared between COPD cases and healthy control cases in both Li and Han ethnic groups. The odds ratio (OR), the corresponding 95% confidence interval (CI) of COPD were calculated by logistic regression. Results: A total of 277 Li COPD cases, 307 Li healthy control subjects, 290 Han COPD cases and 301 Han healthy control were included in this study. In both the Li and Han groups, the average age exceeded 65 years, and the cigarette number smoked per day and the smoking duration were correlated with risk of COPD. In the Li COPD subjects, low weight, smoking, and recurrent infection of respiratory tract were mainly risk factors; while the mainly risk factor of Han COPD subjects was family history of respiratory disease. Conclusions: The risk factors are different in COPD subjects of Han and Li nationalities in Hainan of China. The age and smoking are strongly correlated with COPD risk.