| 1 | Whole exome sequencing identifies an AMBN missense mutation causing severe autosomal-dominant amelogenesis imperfecta and dentin disorders显示文摘Tooth development is a complex process that involves precise and time-dependent orchestration of multiple genetic, molecular,and cellular interactions. Ameloblastin(AMBN, also named 'amelin' or 'sheathlin') is the second most abundant enamel matrix protein known to have a key role in amelogenesis. Amelogenesis imperfecta(AI [MIM: 104500]) refers to a genetically and phenotypically heterogeneous group of conditions characterized by inherited developmental enamel defects. The hereditary dentin disorders comprise a variety of autosomal-dominant genetic symptoms characterized by abnormal dentin structure affecting either the primary or both the primary and secondary teeth. The vital role of Ambn in amelogenesis has been confirmed experimentally using mouse models. Only two cases have been reported of mutations of AMBN associated with non-syndromic human AI. However, no AMBN missense mutations have been reported to be associated with both human AI and dentin disorders.We recruited one kindred with autosomal-dominant amelogenesis imperfecta(ADAI) and dentinogenesis imperfecta/dysplasia characterized by generalized severe enamel and dentin defects. Whole exome sequencing of the proband identified a novel heterozygous C-T point mutation at nucleotide position 1069 of the AMBN gene, causing a Pro to Ser mutation at the conserved amino acid position 357 of the protein. Exfoliated third molar teeth from the affected family members were found to have enamel and dentin of lower mineral density than control teeth, with thinner and easily fractured enamel, short and thick roots, and pulp obliteration. This study demonstrates, for the first time, that an AMBN missense mutation causes non-syndromic human AI and dentin disorders. | Ting Lu Meiyi Li Xiangmin Xu Jun Xiong Cheng Huang Xuelian Zhang Aiqin Hu Ling Peng Decheng Cai Leitao Zhang Buling Wu Fu Xiong | 2018 | International Journal of Oral Science2018，10，4： | 3 |
| 4 | Use of the ulcerative colitis endoscopic index of severity and Mayo endoscopic score for predicting the therapeutic effect of mesalazine in patients with ulcerative colitis显示文摘Objective:The ulcerative colitis endoscopic index of severity(UCEIS)and the Mayo endoscopic score(MES)are developed as objective methods of evaluating endoscopic severity in patients with ulcerative colitis(UC).The aim of this study is to investigate the diagnostic accuracy of the UCEIS and MES in predicting the patient's response to mesalazine.Methods:Consecutive patients with UC who had undergone colonoscopy within 1 month before starting mesalazine between October 2011 and July 2016 were retrospectively collected at the Department of Gastroenterology,Sir Run Run Shaw Hospital,Zhejiang University School of Medicine.The median follow-up was 81 months,and all the data were analyzed in January 2021.The primary outcome was the need for step-up treatment,which included the use of corticosteroids,immunomodulatory,or surgery during admission and follow-up.Data were analyzed using the c2 or Fisher exact test,Spearman test,t-test,and ManneWhitney U test.Results:Totally,65 patients were enrolled,of whom 12(18.5%)needed step-up treatment due to nonresponse to mesalazine.The UCEIS score,MES,and the ulcerative colitis disease activity index(UCDAI)score were significantly higher in patients who had nonresponse to mesalazine(UCEIS score:6.92±0.69 vs.4.45±1.17,p<0.001;MES:2.67±0.49 vs.2.15±0.69,p=0.024;UCDAI score:9.33±1.87 vs.6.70±2.38,p=0.002).In the multivariate analysis,the UCEIS score(OR=25.65,95%CI:3.048 e45.985,p=0.003),UCDAI score(OR=1.605,95%CI:1.144e2.254,p=0.006),and C-reactive protein level(OR=1.056,95%CI:1.006e1.108,p=0.026)were independent risk factors of nonresponse.The area under the ROC curve of UCEIS was 0.95,with a sensitivity of 100%and specificity of 84.6%,a cut-off value of 6,which outperformed the MES with an area under the ROC curve of 0.70.When the UCEIS score≥6,60%of patients eventually needed step-up treatment.Conclusions:The UCEIS is a useful instrument for predicting the therapeutic effect in patients with UC treated with mesalazine.The high probability of mesalazine treatment failure and benefits of other therapies should be discussed in patients with baseline UCEIS score≥6. | Haotian Chen Lexi Wu Mengyu Wang Bule Shao Lingna Ye Yu Zhang Qian Cao | 2021 | Laparoscopic, Endoscopic and Robotic Surgery2021，4，2： | 0 |
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