Objective To explore HLA-DQA1 and DQB1 alleles in their association with genetic susceptibility to psoriasis vulgaris(PV) in Han Chinese. Method Polymerase chain reaction sequence specific primers (PCR-SSP) method was used to analyze the frequencies of HLA-DQA1 and DQB1 alleles among 189 patients with PV and 273 healthy controls. Results ①HLA-DQA1*0104 and DQA1*0201 alleles were positively associated with PV (Pc

BACKGROUND: Tuberculosis clearance, bone graft, internal fixation with or without plate for patients with spinal tuberculosis always lead to C-reactive protein (CRP) and erythrocyte sedimentation rate (ESR) changes, which are associated with bone graft union time to certain degree.OBJECTIVE: To analyze the correlation between CRP, ESR and bone graft union time in patients with spinal tuberculosis.METHODS: A total of 60 patients with spinal tuberculosis underwent tuberculose focus clearance, autologous iliac bone grafting, and internal fixation without or with plate, including 38 undergoing fixation and 22 not undergoing fixation. They were divided into mild elevation, moderate elevation, high elevation, and extremely high elevation groups according to CRP and ESR. Correlation between CRP, ESR and bone graft union time was analyzed.RESULTS AND CONCLUSION: (1) CRP: there were 18 cases of mild elevation, 21 of moderate elevation, 13 of high elevation and 8 of extremely high elevation. There were significant differences in bone union time among groups (P=0.003). Spearman correlation analysis showed a correlation coefficient r=0.420, P=0.001, indicating positive correlation between CPR and bone union time. (2) ESR: there were 16 cases of mild elevation, 20 of moderate elevation, 13 of high elevation and 11 of extremely high elevation. There were significant differences in bone union time among groups (P=0.003). Spearman correlation analysis showed a correlation coefficient r=0.414, P=0.001, indicating positive correlation between ESR and bone union time. (3) Bone union was rapider in fixation group compared with non-fixation group, indicating that immediate, strong fixation can benefit bone union.

BACKGROUND: Clinical practice showed that there are certain correlations between postoperative C-reactive protein levels and bone graft fusion time following focal debridement,autologous iliac bone graft,with or without plate internal fixation,for the treatment of spinal tuberculosis.OBJECTIVE: To analyze the correlation between postoperative C-reactive protein levels and bone graft fusion time of spinal tuberculosis patients.METHODS: A total of 60 cases with spinal tuberculosis were selected from January 2007 to December 2009.All patients were underwent focal debridement,autologous iliac bone graft,with or without plate internal fixation,and confirmed by pathology.The C-reactive protein levels were determined at 1,7 and 14 days after operation,and then,according to average changes of C-reactive protein levels,the cases were assigned into 4 groups: 10-25 mg/L served as the mildly increase group,26-50 mg/L as the moderately increase group,51-100 mg/L as the highly increase group,and greater than 101 mg/L as the extremely increase group.Postoperative C-reactive protein levels were examined at 12,16,and 24 weeks after operation,the bone graft fusion was observed by X-ray or CT examination,in addition,bone block fusion time was recorded.All groups of patients with spinal tuberculosis postoperative C-reactive protein diversity and bone graft fusion time were analyzed by variability and correlation analysis.RESULTS AND CONCLUSION: There were 18 cases in the mildly increase group,21 cases in the moderately increase group,13 cases in the highly increase group,and 8 cases in the extremely increase group.The bone fusion time showed that: there were8 cases equal to or less than 12 weeks,34 cases equal to or less than 16 weeks,and 18 cases equal to or less than 24 weeks.There were significant differences among 4 groups in bone graft fusion times(X2=13.990,P=0.003).Spearman correlation analysis showed that,there was a positive correlation between postoperative C-reactive protein levels and bone fusion time(r=0.420,P=0.001).

Objective To detect the mutations of GJB2 and GJB6 genes in the first Chinese case of keratitis, ichthyosis and deafness (KID) syndrome. Methods Genomic DNA was extracted from the patient with KID syndrome and his family members. All encoding exons and adjacent splice sites of the GJB2 and GJB6 genes were amplified by PCR. Mutation scanning was carried out by direct bidirectional DNA sequencing. Results No mutation was found in GJB6. A G148A mutation was found at exon2 of GJB2 in the patient, which caused a change from aspartic acid to asparagine at codon 50(D50N). Conclusion This case of KID syndrome may be caused by the mutation in GJB2.

Objective To detect the mutations of transglutaminase 1 (TGM1) gene in a family with lamellar ichthyosis. Methods The genomic DNA was extracted from the proband and his family members. All the encoding exons and adjacent splice sites of TGM1 gene were amplified by PCR. Mutation scanning was carried out via direct bi-directional DNA sequencing. Also the homology of TGM1 was analyzed. Results In the proband, there was a C504T mutation located at codon 142 (R142C) in exon 3 of TGM1 gene, and a nonsense mutation of C1122T located in exon 7, which caused a premature termination of R348X and a defective polypeptide truncated by 470 amino acids in C-terminus. A heterozygote of C504T mutation was carried by the proband′s father and a heterozygote of C1122T mutation in the proband′s mother. The missense mutation of R142C was found at the conservation region of TGM1 gene. Conclusion The mutations of R142C and R348X in TGM1 gene are present in the patient with lamellar ichthyosis.

OBJECTIVETo study of the HLA-DQA(1) alleles and environment interaction in type I psoriasis.

METHODSUsing case-control study, 144 type I psoriatics and 273 healthy people were investigated. The HLA-DQA(1) alleles were examined by PCR-SSP.

RESULTS(1) HLA-DQA(1)*0104 and DQA(1)*0201 alleles were positively associated with type I psoriasis (P(c) < 0.002); HLA-DQA(1)*0501 allele was negatively associated with type I psoriasis (P(c) < 0.000 5). (2) The HLA-DQA(1)*0104 allele and moisture was interaction in type I psoriasis (P = 0.023 8, OR = 5.29). (3) There were no interactions between the HLA-DQA(1)*0201 allele and 10 environmental factors in type I psoriasis. (4) The HLA-DQA(1)*0501 allele, moisture (P = 0.002 4, OR = 7.50), eating fish and shrimp (P = 0.000 4, OR = 12.92), drugs (P = 0.043 3, OR = 9.43) or vaccination (P = 0.043 3, OR = 9.43) were interacted in type I psoriasis.

CONCLUSIONS(1) HLA-DQA(1)*0104 and DQA(1)*0201 alleles might be the susceptible genes or it may have close linkage with the susceptible gene. HLA-DQA(1)*0501 allele had protective effect against the development of type I psoriasis. (2) The HLA-DQA(1)*0104 and DQA(1)*0501 alleles increased risk possibility of environmental factors in type I psoriasis.

Adolescent ; Adult ; Alleles ; Case-Control Studies ; Child ; Child, Preschool ; Environment ; Female ; HLA-DQ Antigens ; genetics ; HLA-DQ alpha-Chains ; Humans ; Male ; Psoriasis ; etiology ; genetics ; immunology

OBJECTIVE To observe the effects of RNA interference mediated PIK3CA gene silencing on the proliferation and invasiveness of laryngeal squamous cell carcinoma(LSCC) cells, and investigate the feasibility of PIK3CA gene as a potential therapeutic target in the treatment of LSCC. METHODS The lentiviral vector system expressing short hairpin RNA targeting PIK3CA gene(PIK3C-shRNA)was constructed and transfected subsequently into Hep-2 cells mediated by liposome in vitro. The expression of PIK3CA gene was detected by real-time RT-PCR and Western blot respectively. The proliferation of Hep-2 cells was measured by MTT, colony formation, and cell growth curve. The invasive power was determined by Boyden chamber model in vitro. RESULTS The lentiviral vector system expressing short hairpin PIK3CA- shRNA was constructed successfully. Compared with the control groups, the mRNA and protein expression of PIK3CA were significantly down-regulated(75% and 70% respectively)in the experimental group (P

OBJECTIVE To investigate the clinical pathological characteristics of differentiated thyroid carcinoma (DTC) in children and adolescents. METHODS The clinical data of 30 children and adolescents with DTC were retrospectively reviewed. Meanwhile the clinical pathological characteristics of DTC were analyzed according to patients' age and gender. RESULTS Papillary thyroid carcinoma (PTC) was found in 27 cases and follicular thyroid carcinoma (FTC) in 3 cases. The average diameter of tumors was (2.56±1.1) cm. In the group of children, the incidence of lymph node metastasis was 92.3% (12/13), pulmonary metastasis was 46.2% (6/13), and those in the group of adolescents was 88.2% (15/17) and 35.3% (6/17) respectively. Children group tended to present with more vascular invasion, thyroid capsule invasion, and invasion out of thyroid, and a higher rate of cervical lymph node metastasis (P=0.025, 0.007, 0.025, 0.033). CONCLUSION Thyroid carcinoma in childhood and adolescent has a stronger invasive feature. It is easy to local invasion, lymph node and distance metastasis.

Objective To use enzyme-linked immunosorbent assay (ELISA) for measuring thrombospondin-1 (TSP-1),and to analyze its diagnostic value for prostatic carcinoma.Methods The possible difficulties and the way to solve the difficulties with ELISA spot were explored first.Three agents which could segregate idio-antigen and one technique which could depurate proteinum were designed and developed.The non- idio- proteinum cross reaction problems were solved and the routine method to measure TSP-1 with ELISA was set up successfully.The serum TSP-1 was measured in 14 patients with benign prostatic hyperplasia (BPH) and 18 patients with prostatic carcinoma.Results The TSP-1 values were (73.77±12.72)% and (121.86±-19.47)% in prostatic carcinoma group and benign prostatic hyperplasia group,respectively (t= 8.44,P＜0.01).The diagnostic sensitivity and specificity of TSP-1 and prostate specific antigen (PSA) for prostatic cancer were 92.7%,88.9% and 85.7%,66.7%,respectively (P＜0.01).The area under the receiver operating characteristic curve (ROC) of TSP-1 and PSA were 0.9663 and 0.7421 (P＜0.05).Conclusions The determination of TSP-1 with ELISA is feasible.TSP-1 is an ideal diagnostic parameter for prostatic carcinoma and it may distinguish BPH from malignant prostatic disease more exactly than PSA.

Objective To evaluate the morbidity trend of prostate cancer since the clinical usage of PSA was introduced in Beijing Hospital.Methods Retrospectively we analyzed prostate cancer cases diagnosed in Beijing Hospital from 1995 to 2008.The incidence, age, PSA and clinical stage at diagnosis were taken into account.Results Four hundred and thirty-two cases were enrolled into the study.Who were aged 40 - 90 years old, mean age 72.0 ± 7.8 years.The most frequent age at diagnosis was 70 to 79 years.The incidence increased annually with the most significant increase taking place in 2007 and 2008.Compared with the period 1995 to 1999, the localized prostate cancer rate between 2004 and 2008 increased from 23.9% to 36.3%; the metastatic prostate cancer rate decreased from 49.3% to 32.1%; the rate of patients with PSA 4 - 10 ng,/ml increased from 12.7% to 29.2%; the rate of PSA ＞ 100 ng/ml decreased from 22.5% to 13.2%.Conclusions The incidence and early detection rate of prostate cancer in Beijing Hospital increased from 1995 to 2008.The age at diagnosis had not significantly changed.However, the early detection rate should be improved.