In this study, we examined the insertion/deletion (Ins/Del) and XbaI polymorphisms of the apolipoprotein B (APOB) gene and the -36delG polymorphism in the sterol regulatory element binding protein-1a (SREBP-1a) gene in 298 patients with non-diabetic angiographically assessed coronary artery disease (CAD), and 188 healthy controls, from a Brazilian population of European descent. Del/X+ haplotype carriers had higher levels of total cholesterol (TC) and low-density lipoprotein cholesterol (LDL-C) in patients (TC, p = 0.05; LDL-C, p = 0.049) and controls (TC, p = 0.004; LDL-C, p = 0.013). No association was detected between the SREBP-1a-36delG polymorphism and lipid levels, but a significant interaction effect between APOB and SREBP-1a polymorphisms was observed in the patient sample on TC (p = 0.005) and on LDL-C (p = 0.019) levels. Carriers of the APOB Del/X+ haplotype and SREBP-1a G-G- genotype showed the highest levels of these lipid parameters. This effect of interaction was not observed in the control sample. Despite the associations with lipids, these polymorphisms were not associated with CAD risk or severity in this sample.

Lipoprotein lipase is the rate-limiting enzyme in the lipolysis of plasma triglyceride-rich lipoproteins. We studied six variants (T-93G, D9N, N291S, PvuII, HindIII and S447X) in the lipoprotein lipase (LPL) gene in 309 non-diabetic patients with angiographically assessed coronary artery disease and in 197 controls in a southern Brazilian population of European descent. The HindIII H-allele was associated with lower triglycerides (p < 0.01) and higher high-density lipoprotein cholesterol (p = 0.03) levels, and the S447X mutation was associated with lower triglyceride levels (p < 0.01) in males, but not females. No other significant lipid associations were observed. Haplotypes were derived from these two sites (HindIII/S447X), and carriers of H-S and H-X haplotypes showed lower triglycerides (p < 0.01) and increased high-density lipoprotein cholesterol (p = 0.01) levels when compared to the H+S haplotype in males. In this gender, the H-X haplotype was associated with a protective effect (OR = 0.36, 95%CI = 0.13-0.97) for significant disease (> or = 60% of luminal coronary stenosis), even controlling for other classical risk factors.

No abstract

The diffusion of smart-phones offers access to the best remote expertise in stress echo (SE). To evaluate the reliability of SE based on smart-phone filming and reading. A set of 20 SE video-clips were read in random sequence with a multiple choice six-answer test by ten readers from five different countries (Italy, Brazil, Serbia, Bulgaria, Russia) of the "SE2020" study network. The gold standard to assess accuracy was a core-lab expert reader in agreement with angiographic verification (0 = wrong, 1 = right). The same set of 20 SE studies were read, in random order and >2 months apart, on desktop Workstation and via smartphones by ten remote readers. Image quality was graded from 1 = poor but readable, to 3 = excellent. Kappa (k) statistics was used to assess intra- and inter-observer agreement. The image quality was comparable in desktop workstation vs. smartphone (2.0 ± 0.5 vs. 2.4 ± 0.7, p = NS). The average reading time per case was similar for desktop versus smartphone (90 ± 39 vs. 82 ± 54 s, p = NS). The overall diagnostic accuracy of the ten readers was similar for desktop workstation vs. smartphone (84 vs. 91%, p = NS). Intra-observer agreement (desktop vs. smartphone) was good (k = 0.81 ± 0.14). Inter-observer agreement was good and similar via desktop or smartphone (k = 0.69 vs. k = 0.72, p = NS). The diagnostic accuracy and consistency of SE reading among certified readers was high and similar via desktop workstation or via smartphone.