Purpose/Significance To elucidate the complex relationship among face phenotype-disease-gene,and to explore the underlying mechanisms of their interactions.Method/Process Based on scientific literature from the PubMed database,natural language processing tools and manual filtering methods are used to extract the knowledge of the concept and relationship of face phenotype-disease-gene reported in the existing literature,and a knowledge base is constructed.Result/Conclusion The study completes the framework design and construction of the knowledge base of the face phenotype-disease-genotype for intelligent health application,which lays a foundation of both data and theory for exploring the interplay between face phenotype-disease-gene,as well as the potential application of face phenotype in disease diagnosis.

Objective:To summarize the clinical features of intestinal Beh?et′s disease, so as to provide reference for the diagnosis of the disease.Methods:From April 1 2014 to January 31 2019, the clinical data of 47 patients diagnosed as intestinal Beh?et′s disease at the Second Hospital of Hebei Medical University were retrospectively analyzed, which included initial symptoms, gastrointestinal symptoms, complications, erythrocyte sedimentation rate (ESR), the levels of C reactive protein (CRP), hemoglobin, serum albumin, results of acupuncture test, gastrointestinal involved site and ulcer shape. At the same time, gender differences of clinical manifestations were compared. Chi-square test was used for statistical analysis.Results:Among 47 patients with intestinal Beh?et′s disease, the initial symptoms of 26 (55.3%) cases were gastrointestinal symptoms. Abdominal pain was the most common symptom, the others were diarrhea, anorexia, abdominal distension and perianal abscess, and the incidence rate was 80.9%(38/47), 46.8% (22/47), 42.6% (20/47), 36.2% (17/47) and 2.1% (1/47), respectively. The main complications were gastrointestinal bleeding, perforation and obstruction, and the incidence rates was 40.4% (19/47), 4.3% (2/47) and 4.3% (2/47), respectively. Thirty-seven (78.7%) patients had different degrees of hypoalbuminemia (serum albumin<35 g/L). The CRP level of 36(76.6%) patients increased. The ESR of 36 (76.6%) patients increased. Twenty-two (46.8%) patients had mild anemia (hemoglobin<90 g/L). The acupuncture test was positive in 25 (53.2%) patients. The involved sites of gastrointestinal tract were terminal ileum and ileocecal junction, colon, esophagus, duodenum and jejunum, stomach, and rectum, the proportion was 57.4% (27/47), 27.2% (13/47), 23.4% (11/47), 23.4% (11/47), 17.0% (8/47) and 8.5% (4/47), respectively. All 47 (100.0%) patients had oral ulcers. 62.1%(18/29) patients presented with multiple ulcers under endoscope. The shape of ulcer was round ulcer, irregular ulcer, and longitudinal ulcer, the proportion was 48.3% (14/29), 34.5% (10/29) and 17.2 (5/29), respectively. The incidence rate of genital ulcer of female patients with intestinal Beh?et′s disease was higher than that of male patients with intestinal Beh?et′s disease (85.7%, 18/21 vs. 30.8%, 8/26), and the difference was statistically significant ( χ2=14.189, P<0.01). There were no significant differences between the female group and the male group in the incidence rate of oral ulcer, abdominal pain, diarrhea, and positive rate of acupuncture test (100.0%, 21/21 vs. 100.0%, 26/26; 85.7%, 18/21 vs. 76.9%, 20/26; 42.9%, 9/21 vs. 50.0%, 13/26; 52.4%, 11/21 vs. 58.3%, 14/26, all P>0.05). Conclusions:The common clinical symptoms of intestinal Beh?et′s disease are oral ulcers, abdominal pain, diarrhea and genital ulcer. Female patients with intestinal Beh?et′s disease are more likely to develop genital ulcer than male patients with intestinal Beh?et′s disease. Multiple ulcers are more common under endoscopy, which are round ulcer, irregular ulcer and longitudinal ulcer. The most common sites are the terminal ileum and ileocecal junction, followed by colon, esophagus and other parts.

Objective To explore the role and mechanism of tumor necrosis factor ligand -related molecule 1A (TL1A) in chronic experimental colitis associated intestinal fibrosis .Methods The model of chronic experimental colitis-associated intestinal fibrosis was induced by dextran sodium sulfate (DSS).The mice with high TL1A (L-Tg) expression in lymphoid cells and wild -type mice with the same genetic background were divided into wild type control group, wild type DSS group, transgenic control group and transgenic DSS group.The changes of body mass, length of colon, disease activity index (DAI) and colonic pathological score were compared among different groups .The degree of colonic inflammation was evaluated by Hematoxylin -Eosin (H-E) staining.The degree of intestinal fibrosis was assessed by Masson staining and Sirius red staining .The expression of vimentin, αsmooth muscle actin ( α-SMA), type Ⅰ collagen, Ⅲ collagen and transforming growth factor-β1 ( TGF-β1 ) /Smad3 in colon tissue was examined by immunohistochemistry .T test was performed for statistical analysis.Results The body mass of the transgenic DSS group decreased by (9.6 ± 1.8)％, which was more than wild-type DSS group (6.2 ±1.3)％, the difference was statistically significant (t =3.751, P <0.01).The DAI score and colonic pathological score of transgenic DSS group were both higher than those of wild-type DSS group (7.33 ±0.58 vs.6.00 ±1.00, and 14.00 ±1.05 vs.11.75 ±0.50, respectively), and the differences were statistically significant (t =2.818 and 4.739, both P <0.05).The results of Masson staining and Sirius red staining showed aggravation of intestinal fibrosis .The results of immunohistochemical staining showed that the cumulative positive absorbance values of vimentin , α-SMA, TGF-β1 and Smad3 of wild-type DSS group were lower than those of transgenic DSS group (0.650 ±0.050 vs. 0.800 ±0.020, 0.390 ±0.040 vs.0.600 ±0.040, 0.550 ±0.040 vs.0.730 ±0.040, 0.590 ±0.020 vs. 0.830 ±0.040), and the differences were statistically significant (t =6.823, 9.093, 7.794 and 10.390, all P <0.01).Conclusion TL1A may promote the proliferation and activation of fibroblasts through TGF -β1 /Smad3 pathway, leading to the genesis and development of experimental colitis associated intestinal fibrosis .