Objective To analyze the consistency of transcutaneous perianal ultrasonography (TPUS) and pelvic magnetic resonance imaging (MRI) in diagnosing perianal lesions of Crohn's disease (CD), and to evaluate the value of transcutaneous perianal ultrasonography in detecting perianal lesions of CD. Methods A cohort of 102 patients diagnosed as Corhn's disease were enrolled from August 2008 to August 2010. Perianal abscess and fistula of these CD patients was diagnosed by ultrasonography and MRI system. Statistics was performed with SPSS 11.5 software for X2 test. The consistency was analyzed with Kappa test. Results The mean onset time of perianal lesions in CD was -0.443 year (95％CI:-1.659～0.773 year) before typical symptoms showed up. There was no significant difference in detecting perianal lesions of CD between transcutaneous perianal ultrasonography and pelvic magnetic resonance imaging (P ＝ 0.706, Kappa ＝ 0.541). If pelvic magnetic resonance imaging was considered as the golden standard in detecting perianal lesions of CD,the sensitivity (Sen), specificity (Spe), Youden's index, positive predictive value (PPV) and negative predictive value (NPV) of TPUS were 72.73％, 82.61％, 0.55, 66.67％ and 86.36％ respectively.Furthermore, there was no significant difference between transcutaneous perianal ultrasonography and pelvic magnetic resonance imaging in detecting perianal abscess ( P ＝ 0.706, Kappa ＝ 0.496) and fistula (P＝0.655, Kappa＝0.546) of CD. Conclusions Perianal lesions occur in the entire course of CD. There was favorable consistency between transcutaneous perianal ultrasonography and pelvic magnetic resonance imaging in detecting perianal abscess and fistula of CD. Transcutaneous perianal ultrasonography can be used as an additional method in detecting and evaluting perianal lesions of CD.

Objective To investigate the expression of CD40-CD154 co-stimulatory pathway in peripheral circulation and intestinal mucosa in patients with inflammatory bowel disease (IBD),the difference between the expression of CD40-CD154 in patients with IBD and that in healthy controls,and the correlation between CD40-CD154 levels and disease activity. Methods A total of 62 patients with Crohn's disease (CD),64 patients with ulcerative colitis (UC) and 56 healthy controls were enrolled. Enzyme-Linked Immuno Sorbent Assay (ELISA),SYBR-green real time PCR and immunohistochemical assay were respectively applied to evaluate expression of CD40-CD154 in plasma,mononuclear cells of peripheral blood and intestinal mucosa. Results Levels of CD40 (P=0. 000) and CD154 (P=0. 001) in plasma,mononuclear cells of peripheral blood and intestinal mucosa were significantly higher in patients with CD and UC than in healthy controls. However,no correlation between disease activity and CD40-CD154 expression in peripheral circulation or intestinal mucosa was detected (P ＞ 0. 05 ). Conclusion CD40-CD154 pathway activation is found in plasma,peripheral blood mononuclear cells and intestinal mucosa in patients with IBD,but is not correlated with disease activity.

Objective To explore the effect of contract learning on rehabilitation training to patients with stroke . Methods According to the random number table, 120 stroke patients were randomly divided in equal number into control group and observation group. The patients in the control group were treated with conventional nursing during hospitalization and health guidance during follow-up. The patients in the observation group were given rehabilitation training according to contracted learning during the period of hospitalization and follow-up. The time was 6 months. The quality of life was compared between the two groups of patients before and after the intervention, 1 months after discharge, 6 months after discharge. Results After six months of intervention, the 7 dimensions of quality of life, including daily life ability, hand function, mobility, strength, emotion, communication and participation in the intervention group were significantly better than those of the control group (P<0.001). The 6 dimensions of quality of life, including daily life ability, hand function, mobility, strength, emotion, and communication of the control group were significantly better than before the intervention (P<0.001). Conclusion For stroke patients, the rehabilitation training under the learning contract can improve the effect of rehabilitation training so as to improve the quality of life and the prognosis.

Objective To investigate the expression of CD27-CD70 co-stimulatory pathway in peripheral circulation and intestinal mucosa of patients with inflammatory bowel disease, and to find the difference between the expression of CD27-CD70 in patients with inflammatory bowel disease and in healthy controls. Methods A total of 62 patients with Crohn's disease, 64 patients with ulcerative colitis and 56 healthy controls were enrolled. Enzyme-linked immunosorbent assay was applied to evaluate plasma CD27-CD70 protein expression in patients with inflammatory bowel disease and healthy controls. SYBR-green real time PCR was applied to access CD27-CD70 mRNA expression in peripheral blood mononuclear cells in patients with inflammatory bowel disease and healthy controls.And CD27-CD70 protein expression in intestinal mucosa was determined by immunohitochemistry.Results Plasma levels of CD27 (P=0. 025) and CD70 (P=0. 000) were significantly higher in patients with Crohn's disease than in healthy controls. However, CD27 (r= 0. 055, P= 0. 673) and CD70 (r= 0. 024, P = 0. 852) were not significantly associated with endoscopic disease activity in patients with Crohn's disease. Similarly, CD27 (P=0. 001) and CD70 (P=0. 000) were significantly higher in patients with ulcerative colitis than in healthy controls. And CD27 (r=0. 077, P=0. 547)and CDT0 (r=0.021, P=0. 869) were not significantly associated with endoscopic disease activity in patients with ulcerative colitis. Moreover, CD27 and CD70 mRNA expression in peripheral blood mononuclear cells were significantly higher in patients with Crohn's disease and ulcerative colitis than in healthy controls (all P=0. 000), and immunostaining indicated that CD27 and CD70 expression in intestinal mucosa were significantly higher in patients with Crohn's disease and ulcerative colitis than in healthy controls (all P=0. 000). Conclusions CD27-CD70 pathway activated in plasma, peripheral blood mononuclear cells and intestinal mucosa of patients with inflammatory bowel disease. However,plasma levels of CD27 and CD70 can not reflect endoscopic disease activity.

Objective:To analyze the splicing mutation site of COL4A5 gene in a family with X-linked dominant Alport syndrome and explore the possibility of exon specific U1 small nuclear RNA (snRNA) gene therapy. Methods:The clinical data of the proband and family members of Alport syndrome were collected, and the gene mutations in the whole exon of a series of nephropathy genes in the proband were detected by high-throughput sequencing. The splice site changes and pathogenicity caused by COL4A5 c.546+5G>A mutation were analyzed by online software. Minigene experiment was used to verify and analyze the effect of COL4A5 gene mutation site c.546+5G>A in the proband of Alport syndrome family, and transient transfection and introduction of modified U1 snRNA to correct splicing mutation. Results:The results of gene sequencing showed that there was a hemizygous variation of COL4A5 gene in the proband and his half brother, and the variation site was c.546+5G>A. The results of online software for analyzing the pathogenicity of splice variation showed that the original donor splicing site could not be detected after mutation, suggesting that there was a great possibility of affecting splicing. The abnormal splicing mode of COL4A5 gene with c.546+5G>A mutation—deletion of exon 9 was verified by hybridized small gene detection. The abnormal splicing mutation could be partially corrected by the modified U1 snRNA. The correction ratios of ExSpeU1 (MT), ExSpeU1(E9+1), ExSpeU1(E9+9) and ExSpeU1(E9+11) to exon 9 deletion caused by c.546+5G>A were 0, 43.81%, 52.09% and 48.12%, respectively. Conclusions:The pathogenicity of the new splicing mutation of COL4A5 is verified, and the modified U1 snRNA can partially correct the abnormal splicing.