Apixaban versus no anticoagulation for the prevention of venous thromboembolism in children with newly diagnosed acute lymphoblastic leukaemia or lymphoma (PREVAPIX-ALL): a phase 3, open-label, randomised, controlled trial.

Background: Paediatric patients with acute lymphoblastic leukaemia or lymphoma are at increased risk of venous thromboembolism resulting in increased mortality and morbidity. We hypothesised that apixaban, a direct oral anticoagulant, would safely reduce venous thromboembolism in this patient population.

Methods: PREVAPIX-ALL was a phase 3, open-label, randomised, controlled trial conducted in 74 paediatric hospitals in 9 countries.

Penetrance of Hemochromatosis in HFE Genotypes Resulting in p.Cys282Tyr and p.[Cys282Tyr];[His63Asp] in the eMERGE Network.

Hereditary hemochromatosis (HH) is a common autosomal-recessive disorder associated with pathogenic HFE variants, most commonly those resulting in p.Cys282Tyr and p.His63Asp.

Imputation and quality control steps for combining multiple genome-wide datasets.

The electronic MEdical Records and GEnomics (eMERGE) network brings together DNA biobanks linked to electronic health records (EHRs) from multiple institutions. Approximately 51,000 DNA samples from distinct individuals have been genotyped using genome-wide SNP arrays across the nine sites of the network. The eMERGE Coordinating Center and the Genomics Workgroup developed a pipeline to impute and merge genomic data across the different SNP arrays to maximize sample size and power to detect associations with a variety of clinical endpoints.

MicroRNA analysis in placentas from patients with preeclampsia: comparison of new and published results.

Objective: The aim was to identify differences in microRNA expression between patients with and without preeclampsia.

Methods: Microarray-based study was carried out with placental samples.

Results: Comparison of eight previous studies with the current study revealed a total of 138 microRNAs; only 20/138 (14%), however, were seen in more than one study and the results agreed in the direction of change.

Novel pathways in the pathobiology of human abdominal aortic aneurysms.

Objectives: Abdominal aortic aneurysm (AAA), a dilatation of the infrarenal aorta, typically affects males >65 years. The pathobiological mechanisms of human AAA are poorly understood. The goal of this study was to identify novel pathways involved in the development of AAAs.

MicroRNA expression signature in human abdominal aortic aneurysms.

Background: Abdominal aortic aneurysm (AAA) is a dilatation of the aorta affecting most frequently elderly men. Histologically AAAs are characterized by inflammation, vascular smooth muscle cell apoptosis, and extracellular matrix degradation. The mechanisms of AAA formation, progression, and rupture are currently poorly understood.

Regional expression of HOXA4 along the aorta and its potential role in human abdominal aortic aneurysms.

Background: The infrarenal abdominal aorta exhibits increased disease susceptibility relative to other aortic regions. Allograft studies exchanging thoracic and abdominal segments showed that regional susceptibility is maintained regardless of location, suggesting substantial roles for embryological origin, tissue composition and site-specific gene expression.

Results: We analyzed gene expression with microarrays in baboon aortas, and found that members of the HOX gene family exhibited spatial expression differences.

Role of complement cascade in abdominal aortic aneurysms.

Objective: The goal of this study was to investigate the role of complement cascade genes in the pathobiology of human abdominal aortic aneurysms (AAAs).

Methods And Results: Results of a genome-wide microarray expression profiling revealed 3274 differentially expressed genes between aneurysmal and control aortic tissue. Interestingly, 13 genes in the complement cascade were significantly differentially expressed between AAA and the controls.

Association of morbid obesity with FTO and INSIG2 allelic variants.

Objective: To determine whether 2 single nucleotide polymorphisms (SNPs) in the obesity genes the fat mass and obesity associated gene (FTO) and the insulin induced gene 2 (INSIG2) are associated with class III, or morbid, obesity in patients undergoing bariatric weight loss operations.

Design: Retrospective analysis of genotype and clinical data.

Setting: Large rural tertiary care health system.