Citations

Abstract Motivation Testing SNP–SNP interactions is considered as a key for overcoming bottlenecks of genetic association studies. However, related statistical methods for testing SNP–SNP interactions are underdeveloped. Results We propose the SNP Interaction Pattern Identifier (SIPI), which tests 45 biologically meaningful interaction patterns for a binary outcome. SIPI takes non-hierarchical models, inheritance modes and mode coding direction into consideration. The simulation results show that SIPI has higher power than MDR (Multifactor Dimensionality Reduction), AA_Full, Geno_Full (full interaction model with additive or genotypic mode) and SNPassoc in detecting interactions. Applying SIPI to the prostate cancer PRACTICAL consortium data with approximately 21 000 patients, the four SNP pairs in EGFR-EGFR, EGFR-MMP16 and EGFR-CSF1 were found to be associated with prostate cancer aggressiveness with the exact or similar pattern in the discovery and validation sets. A similar match for external validation of SNP–SNP interaction studies is suggested. We demonstrated that SIPI not only searches for more meaningful interaction patterns but can also overcome the unstable nature of interaction patterns. Availability and Implementation The SIPI software is freely available at http://publichealth.lsuhsc.edu/LinSoftware/. Supplementary information Supplementary data are available at Bioinformatics online.

Chromosomal instability (CIN), the persistent inability of a cell to faithfully segregate its genome, is a feature of many cancer cells. It stands to reason that CIN enables the acquisition of multiple cancer hallmarks; however, there is a growing body of evidence suggesting that CIN impairs cellular fitness and prevents neoplastic transformation. Here, we suggest a new perspective to reconcile this apparent paradox and share an unexpected link between aneuploidy and aging that was discovered through attempts to investigate the CIN-cancer relationship. Additionally, we provide a comprehensive overview of the function and regulation of the anaphase-promoting complex, an E3 ubiquitin ligase that mediates high-fidelity chromosome segregation, and describe the mechanisms that lead to whole-chromosome gain or loss. With this review, we aim to expand our understanding of the role of CIN in cancer and aging with the long-term objective of harnessing this information for the advancement of patient care.

Abstract As our knowledge and technology advance, the indications for elbow arthroscopy continue to grow rapidly. During this expansion, a number of new portals have been described and reported using variable nomenclature and location descriptions. Accordingly, a comprehensive review of these portals is warranted. Given the concern for potential iatrogenic injury to surrounding neurovascular structures, a discussion of these critical nerves and vessels is also timely. In this work, we review pertinent surface anatomy; portal nomenclature, locations, and utility; and review distances to the nearest structures at risk. Technique Video video See video under supplementary data.

Abstract The field of elbow arthroscopy has evolved significantly since the procedure was first introduced more than 30 years ago. As our knowledge and understanding grows, numerous technical modifications have been made to improve the safety and efficacy of elbow arthroscopy. One of the most significant modifications is the change from the supine hanging position to the supine‐suspended position with the use of a mechanical arm holder. Currently, the supine‐suspended and lateral decubitus positions are the 2 most commonly used techniques. In this work, we discuss the history of the supine position, provide key points for proper patient positioning, and detail the steps of diagnostic elbow arthroscopy. It is our hope that this work will serve as an up‐to‐date review and summary of the most critical components of this procedure for emerging elbow arthroscopists. Technique Video video See video under supplementary data.