Cost-utility Analysis of Infliximab in the Treatment of Ulcerative Colitis / 中国药房

OBJECTIVE：To evaluate the economics of infliximab in the treatment of ulcerative colitis. METHODS ：Retrieved from CNKI ，Wanfang database ，VIP，PubMed，Embase database and Cochrane Library since Oct. 16th in 2019，randomized controlled trials （RCTs）about infliximab （trial group ）vs. conventional drugs （control group ）in the treatment of ulcerative colitis were collected ，and efficacy and safety of two groups were compared by Meta-analysis. The economics were analyzed by cost-utility analysis ，and single factor sensitivity analysis and probability sensitivity analysis were conducted. RESULTS ：The results of Meta-analysis showed that clinical response rate [RR ＝1.97，95％ CI （1.64，2.36），P＜0.000 01] and clinical remission rate [RR ＝3.19，95％CI（1.83，5.57），P＜0.000 1] in double blind trial subgroup of infliximab treatment were both significantly higher than than control group of conventional treatment. There was no statistical significance in the incidence of severe ADR between 2 groups [RR ＝0.76，95％CI（0.54，1.06），P＝0.10]. The incremental cost-utility ratio of trial group was 348 243.88 yuan/quality-adjusted life-year （QALY），which was significantly higher than the patient ’s willingness to pay threshold （212 676 yuan）.The sensitivity analysis supported above results. CONCLUSIONS ：Under the current level of medical security in China ， compared with conventional therapy ，infliximab is less economical for the treatment of ulcerative colitis.

Analysis of a multiple osteochondroma case caused by novel splice mutation (c.1164+1G to A) of EXT1 gene / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To detect potential mutation of EXT1 gene in a pedigree affected with multiple osteochondroma and explore its pathogenic mechanism.</p><p><b>METHODS</b>The coding regions and their flanking sequences of the EXT1/EXT2 genes were subjected to PCR amplification and Sanger sequencing. Suspected mutations were verified by excluding possible single nucleotide polymorphisms and bioinformatics analysis. Transcripts of the EXT1 gene in the proband were analyzed by TA clone-sequencing, with its abundance compared with that of healthy controls.</p><p><b>RESULTS</b>DNA sequencing has identified in the proband a novel heterozygous point mutation (c.1164+1G to A) at the 5'splice sites of intron 3 of the EXT1 gene. The same mutation was not found in the healthy controls. Bioinformatics analysis indicated that the mutation is highly conserved and can lead to skipping of exon 3 or aberrant splicing. TA clone-sequencing indicated that the numbers of transcripts with skipping of exon 3 has significantly increased in the proband (< 0.05) compared with the controls.</p><p><b>CONCLUSION</b>The c.1164+1G to A mutation has resulted in skipping of exon 3 in a proportion of EXT1 gene transcripts. As the result, the number of transcripts with tumor suppressing function is relatively reduced and has ultimately led to the tumors.</p>