32 research outputs found
IBD Serology and Disease Outcomes in African Americans with Crohn's Disease
Backgrounds: Recent studies have identified the role of serologic markers in characterizing disease phenotype, location, complications, and severity among Northern Europeans (NE) with Crohn's disease (CD). However, very little is known about the role of serology in CD among African Americans (AA). Our study explored the relationship between serology and disease phenotype in AA with CD, while controlling for genetic ancestry. Methods: AAs with CD were enrolled as participants through multicenter collaborative efforts. Serological levels of IgA anti-Saccharomyces cervisiae antibody (ASCA), IgG ASCA, E. coli outermembrane porin C, anti-CBir1, and ANCA were measured using enzyme-linked immunosorbent assays. Genotyping was performed using Illumina immunochip technology; an admixture rate was calculated for each subject. Multiple imputation by chained equations was performed to account for data missing at random. Logistic regression was used to calculate adjusted odds ratio (OR) for associations between serological markers and both complicated disease and disease requiring surgery. Results: A total of 358 patients were included in the analysis. The majority of our patients had inflammatory, noncomplicated disease (58.4%), perianal disease (55.7%), and documented colonic inflammation (86.8%). On multivariable analysis, both IgG ASCA and OmpC were associated with complicated disease (OR, 2.67; 95% CI, 1.67-4.28; OR, 2.23; 95% CI, 1.41-3.53, respectively) and disease requiring surgery (OR, 2.51; 95% CI, 1.49-4.22; OR, 3.57; 95% CI, 2.12-6.00). NE admixture to the African genome did not have any associations or interactions in relation to clinical outcome. Conclusions: Our study comprises the largest cohort of AAs with CD. The utility of serological markers for the prognosis of CD in NE applies equally to AA populations
Large-scale sequencing identifies multiple genes and rare variants associated with Crohn's disease susceptibility
Genome-wide association studies (GWASs) have identified hundreds of loci associated with Crohn's disease (CD). However, as with all complex diseases, robust identification of the genes dysregulated by noncoding variants typically driving GWAS discoveries has been challenging. Here, to complement GWASs and better define actionable biological targets, we analyzed sequence data from more than 30,000 patients with CD and 80,000 population controls. We directly implicate ten genes in general onset CD for the first time to our knowledge via association to coding variation, four of which lie within established CD GWAS loci. In nine instances, a single coding variant is significantly associated, and in the tenth, ATG4C, we see additionally a significantly increased burden of very rare coding variants in CD cases. In addition to reiterating the central role of innate and adaptive immune cells as well as autophagy in CD pathogenesis, these newly associated genes highlight the emerging role of mesenchymal cells in the development and maintenance of intestinal inflammation.Large-scale sequence-based analyses identify novel risk variants and susceptibility genes for Crohn's disease, and implicate mesenchymal cell-mediated intestinal homeostasis in disease etiology.Cellular mechanisms in basic and clinical gastroenterology and hepatolog
Single-strand conformational polymorphism analysis of human GLUT5 in isolated fructose malabsorption
The Testing Effect for Learning Principles and Procedures from Texts
The authors explored whether a testing effect occurs not only for retention of facts but also for application of principles and procedures. For that purpose, 38 high school students either repeatedly studied a text on probability calculations or studied the text, took a test on the content, restudied the text, and finally took the test a second time. Results show that testing not only leads to better retention of facts than restudying, but also to better application of acquired knowledge (i.e., principles and procedures) in high school statistics. In other words, testing seems not only to benefit fact retention, but also positively affects deeper learning
In-Office Nano-Arthroscopy of the Shoulder with Acromioplasty
Subacromial decompression with acromioplasty is among the most commonly performed shoulder procedures. The advantages of in-office nano-arthroscopy include the capability of diagnosing and treating subacromial impingement, swifter patient recovery, improved cost-effectiveness, and superior patient satisfaction. The purpose of this technical report is to describe our technique for performing in-office nano-arthroscopy for subacromial decompression (subacromial bursectomy and acromioplasty), with a particular focus on appropriate indications, providing sufficient local anesthesia, optimizing visualization, and discussing the advantages of the in-office setting compared to the operating room