关键词： Patient preferences   Outcome measurement   Value equation   Value-based health care   Inflammatory bowel diseases  

摘要： Value-based healthcare is an upcoming field. The core idea is to evaluate care based on achieved outcomes divided by the costs. Unfortunately, the optimal way to evaluate outcomes is ill-defined. In this study, we aim to develop a single, preference based, outcome metric, which can be used to quantify overall health value in inflammatory bowel disease (IBD). IBD patients filled out a choice-based conjoint (CBC) questionnaire in which patients chose preferable outcome scenarios with different levels of disease control (DC), quality of life (QoL), and productivity (Pr). A CBC analysis was performed to estimate the relative value of DC, QoL, and Pr. A patient-centered composite score was developed which was weighted based on the stated preferences. We included 210 IBD patients. Large differences in stated preferences were observed. Increases from low to intermediate outcome levels were valued more than increases from intermediate to high outcome levels. Overall, QoL was more important to patients than DC or Pr. Individual outcome scores were calculated based on the stated preferences. This score was significantly different from a score not weighted based on patient preferences in patients with active disease. We showed the feasibility of creating a single outcome metric in IBD which incorporates patients' values using a CBC. Because this metric changes significantly when weighted according to patients' values, we propose that success in healthcare should be measured accordingly.

关键词： apoptosis   Crohn disease   genetic counseling   immunodeficiencies   XIAP deficiency  

摘要： X-linked lymphoptoliferative disease type 2 (XLP-2, OMIM 300635) is a primary inunimodeficiency caused by the loss of X chromosome linked inhibitor of apoptosis (XIAP), the X-linked inhibitor of apoptosis gene at Xq25. XLP-2 individuals are susceptible to several specific and potentially fatal infections, such as Epstein-Bart virus (EBV). Children with XIAP-related XLP-2 may present with either familial hemophagocyfic lymphohistiocytosis, often triggered in response tO EBV infection, or with a treatment-refractory severe pediatric form of inflammatory bowel disease (IBD) that might be diagnosed as CrOhn. disease. However, this monogenic cause of IBD is distinct from adult Crohn disease (a polygenic and multifactorial disease) in its etiology., and responsiveness to therapy. XLP-2 and the associated IBD symptoms are managed by a reduced-intensity conditioning regimen with an allogeneic hematopoietic stem cell transplantation that causes teso- lution of gastrointestinal symptoms. Exome sequencing has enabled identification of XIAP-deficient diseased individuals and has altered i their morbidity byproviding poteritiallylifcsaving strategies in a timely and effective manner. Here, we siunmarize XLP-2 IBD treatment his- I tory and patient morbidity/mortality since its original identification in 2006. Since XLP-2 is-rare, cases are probably undergiagnosed or misdi- 1 agnosed. Consideration. of XLP-2 in children with severe symptoms of IBD can prevent serious morbidities and mortality avoid unnecessary procedures, and expedite speCific targeted therapy.

关键词： Inflammatory Bowel Disease   Pregnancy   Anti-Tumor Necrosis Factor  

摘要： The management of the pregnant patient with inflammatory bowel disease is complicated by multiple providers, misinformation, and a disease entity that, particularly when active, can adversely affect pregnancy outcomes. This article seeks to frame the debate on medication safety in pregnancy and lactation using the US Food and Drug Administration's new Pregnancy and Lactation Labeling Rule and the most up-to-date safety information to discuss the risks and benefits of using each class of inflammatory bowel disease medication.

关键词： colitis   diarrhea   immunosuppression   solid organ transplant  

摘要： A subset of children who receive a liver and/or kidney transplant develop de novo inflammatory bowel disease-like chronic intestinal inflammation, not explained by infection or medications, following transplant. We have conducted a single-center, retrospective case series describing the unique clinical and histologic features of this IBD-like chronic intestinal inflammation following solid organ transplant. At our center, nine of 327 kidney or liver recipients developed de novo IBD following transplant (six liver, two kidney, one liver-kidney). Most children presented with prolonged hematochezia and diarrhea and were treated with aminosalicylates. At time of diagnosis, five were not currently using mycophenolate mofetil for transplant immunosuppression. Histologic and endoscopic findings at IBD diagnosis included inflammation, ulcerations, granulomas, and chronic colitis. Since diagnosis, no patients have required surgical intervention, or escalation to biologic therapy, nor developed stricturing or perianal disease. In this case series, de novo post-transplant IBD developed in 4% of pediatric liver and/or kidney recipients;however, it often does not fit the classic patterns of Crohn's disease or ulcerative colitis.

关键词： Crohn's disease   Ulcerative colitis   Biologics   Biosimilar  

摘要： Early biologic therapy is recommended in patients with inflammatory bowel disease and poor prognostic factors and in those refractory to conventional medications. Anti-tumor necrosis factor (anti-TNF) agents are the most commonly used biologic agents. However, some patients may not have an initial response to anti-TNF therapy, and one-third will develop loss of response over time. Anti-TNF drugs can also be associated with side effects. In addition, the use of biologics is currently limited by their cost, especially in developing countries. A number of new therapeutic targets, including novel small molecules, and cellular therapy are available or under investigation. These novel molecules include oral Janus kinase (JAK) inhibitor (tofacitinib), interleukin inhibitor (ustekinumab), oral SMAD7 antisense oligonucleotide (mongersen), and anti-integrin inhibitors (vedolizumab). Here, we review the mechanisms of action, the efficacy, and the safety data of these novel agents. Biological products that are highly similar to reference biologic products whose patents have expired-also known as "biosimilars''-can be produced at lower cost with similar efficacy, and are also available for the treatment of IBD. We review the efficacy data for such agents as well.

关键词： 肠疾病   中成药   临床应用   指南   肛门疾病  

ISBN: (纸本)9787513239240

摘要： 《中成药临床应用指南·肛肠疾病分册》对每个病种从定义、流行病学、病因病理、临床表现、诊断、治疗、预后等进行详细阐述，其中治疗一项总括了同一疾病不同证型的辨证要点、治法、中成药，然后对每个具体证型进行详细描述，重点强调同一证型下不同中成药选用的区别。全书内容翔实，实用性强。

关键词： DNA sequencing   Genetic association study   Inflammatory bowel disease  

摘要： To further resolve the genetic architecture of the inflammatory bowel diseases ulcerative colitis and Crohn's disease, we sequenced the whole genomes of 4,280 patients at low coverage and compared them to 3,652 previously sequenced population controls across 73.5 million variants. We then imputed from these sequences into new and existing genome-wide association study cohorts and tested for association at similar to 12 million variants in a total of 16,432 cases and 18,843 controls. We discovered a 0.6% frequency missense variant in ADCY7 that doubles the risk of ulcerative colitis. Despite good statistical power, we did not identify any other new low-frequency risk variants and found that such variants explained little heritability. We detected a burden of very rare, damaging missense variants in known Crohn's disease risk genes, suggesting that more comprehensive sequencing studies will continue to improve understanding of the biology of complex diseases.

关键词： ENDOSCOPY   INFLAMMATORY bowel diseases   DYSPLASIA  

摘要： Background and study aims Current guidelines recommend the use of pancolonic chromoendoscopy for surveillance of patients with inflammatory bowel disease (IBD). It is currently unknown whether low grade dysplasia (LGD) found using chromoendoscopy carries a similar risk of high grade dysplasia (HGD) or colorectal cancer (CRC) compared with LGD detected using white-light endoscopy (WLE). The aim of this study was to compare the risk of advanced neoplasia, a combined endpoint of HGD and CRC, during follow-up after detection of lesions containing LGD identified with either chromoendoscopy or WLE. Patients and methods A retrospective cohort was established to identify patients who underwent IBD surveillance for ulcerative colitis or colonic Crohn's disease between 2000 and 2014. Subgroups were identified, based on the endoscopic technique (standard definition resolution WLE, high definition resolution WLE or chromoendoscopy). LGD detected in random biopsies was considered invisible LGD. Patients were followed until detection of advanced neoplasia, colectomy, death, or the last known surveillance colonoscopy. Results Of 1065 patients undergoing IBD surveillance, 159 patients underwent follow-up for LGD, which was visible in 133 cases and invisible in 26 cases. On follow-up, five cases of HGD and five cases of CRC were detected. The overall incidence rate of advanced neoplasia was 1.34 per 100 patient-years with a median follow-up of 4.7 years and a median time to advanced neoplasia of 3.3 years. There were no significant differences in the incidence of advanced neoplasia between chromoendoscopy-detected and WLE-detected LGD. Conclusion Advanced neoplasia was found to develop infrequently after detection of LGD in patients undergoing endoscopic surveillance for IBD. LGD lesions detected with either chromoendoscopy or WLE carry similar risks of advanced neoplasia over time.