Evaluation of SLC11A1 as an inflammatory bowel disease candidate gene

BACKGROUND: Significant evidence suggests that a promoter polymorphism withinthe gene SLC11A1 is involved in susceptibility to both autoimmune and infectious disorders. The aim of this study was to evaluate whether SLC11A1 has a role in the susceptibility to inflammatory bowel disease (IBD) by characterizing a promoter polymorphism within the gene and two short tandem repeat (STR) markers in genetic proximity to SLC11A1. METHODS: The studied population consisted of 484 Caucasians with IBD, 144 population controls, and 348 non-IBD-affected first-degree relatives of IBD patients. IBD subjects were re-categorized at the sub-disease phenotypic level to characterize possible SLC11A1 genotype-phenotype correlations. Polymorphic markers were amplified from germline DNA and typed using gel electrophoresis. Genotype-phenotype correlations were defined using case-control, haplotype, and family-based association studies. RESULTS: This study did not provide compelling evidence for SLC11A1 disease association; most significantly, there was no apparent evidence of SLC11A1 promoter allele association in the studied Crohn's disease population. CONCLUSION: Our results therefore refute previous studies that have shown SLC11A1 promoter polymorphisms are involved in susceptibility to this form of IBD

Large expert-curated database for benchmarking document similarity detection in biomedical literature search

Document recommendation systems for locating relevant literature have mostly relied on methods developed a decade ago. This is largely due to the lack of a large offline gold-standard benchmark of relevant documents that cover a variety of research fields such that newly developed literature search techniques can be compared, improved and translated into practice. To overcome this bottleneck, we have established the RElevant LIterature SearcH consortium consisting of more than 1500 scientists from 84 countries, who have collectively annotated the relevance of over 180 000 PubMed-listed articles with regard to their respective seed (input) article/s. The majority of annotations were contributed by highly experienced, original authors of the seed articles. The collected data cover 76% of all unique PubMed Medical Subject Headings descriptors. No systematic biases were observed across different experience levels, research fields or time spent on annotations. More importantly, annotations of the same document pairs contributed by different scientists were highly concordant. We further show that the three representative baseline methods used to generate recommended articles for evaluation (Okapi Best Matching 25, Term Frequency-Inverse Document Frequency and PubMed Related Articles) had similar overall performances. Additionally, we found that these methods each tend to produce distinct collections of recommended articles, suggesting that a hybrid method may be required to completely capture all relevant articles. The established database server located at https://relishdb.ict.griffith.edu.au is freely available for the downloading of annotation data and the blind testing of new methods. We expect that this benchmark will be useful for stimulating the development of new powerful techniques for title and title/abstract-based search engines for relevant articles in biomedical research.Peer reviewe

SILS cholecystectomy, early experience of a single institution: pilot study of 21 cases

Many surgeons have attempted to reduce the number and the size of ports in laparoscopic cholecystectomy to decrease parietal trauma and pain, and to improve cosmetic results. We report a series of laparoscopic cholecystectomies using a single-port technique (SILS) through an umbilical incision in a pilot group of 21 cases. Our goal was to validate and develop the single-port access as a viable option. All the operations were performed using an umbilical SILS port (Ethicon). Most reported techniques utilize special purpose-made instruments. This article provides a stepwise description of the procedure using all straight instruments. No special reticulating instruments or flexible telescopes were used. We report our early difficulties and concerns about the procedure and propose solutions to the problems. Patients' request for improved cosmesis impels surgeons toward the application of SILS, but the true advantage of the technique should be assessed by more evidences. For this reason, we are planning a single-institution, prospective randomized controlled trial to compare postoperative pain, operating time and cosmetic result between one port and standard laparoscopic surgery

Single-access laparoscopic left hemicolectomy

Single-incision surgery is an evolution of conventional laparoscopy. It reduces not only the invasiveness of the access but also the surgical procedure itself. Although SALS for colorectal resection was initially performed only for benign diseases, there is now an increasing adoption for malignancy, which raises questions concerning oncological adequacy. However, this approach is not yet used routinely for the treatment of benign and malignant colorectal disease, because clear advantages for the patient are still lacking. We report our standardized technique as well as the case series in the use of a single-access laparoscopic approach for the treatment of left colon disease