Genetic variation at chromosome 1p13.3 affects sortilin mRNA expression, cellular LDL-uptake and serum LDL levels which translates to the risk of coronary artery disease.

BACKGROUND: A single nucleotide polymorphism (SNP) rs599839 located at chromosome 1p13.3 has previously been associated with risk of coronary artery disease (CAD) and with serum levels of low-density lipoprotein cholesterol (LDL-C). A functional link explaining the association of SNP rs599839 with LDL-C levels and CAD risk has not yet been elucidated. METHODS: We analyzed the association of rs599839 with LDL-C in 6605 individuals across a wide age spectrum and with CAD in four case-control studies comprising 4287 cases and 7572 controls. Genome-wide expression array data was used to assess the association of SNP rs599839 with gene expression at chromosome 1p13. Finally, we overexpressed sortilin in transfected cells to study LDL-uptake in vitro. RESULTS: Each copy of the G-allele of rs599839 associated with a decrease of serum LDL-C by 0.14mmol/L (90% confidence interval (CI) 0.09-0.17mmol/L, p=2.6x10(-11)). Moreover, each copy of the G-allele associated with a 9% decrease of CAD risk (90% CI 4-14%) in the presently studied four case-control samples and with a 13% decrease (90% CI 10-17%, p=2.18x10(-9)) in a pooled meta-analysis including recent genome-wide association studies on CAD. The same allele was associated with higher mRNA-expression levels of the multiligand receptor sortilin (log transformed mRNA AA vs. GG=8.31 vs. 8.55; p=0.01). Overexpression of SORT1 cDNA resulted in a significant increase in LDL-particle uptake (+23%, p=0.01). CONCLUSIONS: Rs599839 associates with decreased LDL-C and a lower risk of CAD. Effects appear to be mediated by increased sortilin expression and subsequently enhanced LDL-uptake into cells

Association between SNP rs1800875, serum chymase and immunoglobulin E levels in patients with coronary heart disease*

Objective: The gene for mast cell chymase (CMA1) is an ideal candidate for investigating the genetic predisposition to coronary heart disease (CHD), as activated mast cells have been found to be present in a greater proportion in the shoulder region of atheroma than in normal coronary intimae. Previous studies have indicated that CMA1 promoter polymorphism rs1800875 may be involved in regulating immunoglobulin E (IgE) levels in patients with eczema, and it is associated with the progression of immunoglobulin A nephropathy. Methods: The association between single nucleotide polymorphism (SNP) rs1800875, serum chymase, and serum IgE levels was examined in 175 CHD subjects and 95 non-CHD subjects. Results: Statistical analysis indicated no significant difference in allele frequency between CHD and non-CHD. However, a significant association was found between CMA1 genotypes and total IgE levels in CHD subjects. Meanwhile, crossover analysis revealed that, in GG homozygotes, CHD risk was nearly six times higher in those with IgE (U/ml) level <2.58 (natural logarithm conversion), while no association was found with chymase level. Conclusions: Polymorphism rs1800875 of CMA1 may be associated with serum IgE level in CHD subjects, but not with chymase level in both groups. In GG homozygotes, high IgE level is a protective factor against coronary disease

Nematóides do Brasil. Parte III: nematóides de répteis Brazilian nematodes. Part III: nematodes of reptiles

<abstract language="eng">A survey of nematode species parasizing Brazilian reptiles is presented, with data enough to provide their specific identification. The first section refers to the catalogation of the species, related to 127 superfamilies, 23 families, 55 genera and 121 species that are figured and included in measurement tables. The second section is concerned to the catalogue of host reptiles, with 16 families, and 90 species and their respective parasite nematodes. The identification of these helminths is achieved by means of keys to the superfamilies, families and genera. Specific determination is induced through the figures and tables as above mentioned

Cluster in nuclei: Experimental perspectives

This lecture notes treat some experimental aspects of nuclear cluster states studies, ranging from traditional techniques to some of the most recent developments and emerging methods. Experimental investigations, in the field of nuclear clusters are discussed in terms of detection techniques and associated electronics. Recent developments in accelerator technology and targetry are also presented in the scope of new opportunities in cluster studies. The nature of cluster states makes exclusive measurements crucial. It requires the simultaneous detection of nucleons, light, intermediate-mass and heavy fragments, and possibly -rays together with timing information. Precise measurements of angular correlations and energy distributions between emitted particles are needed for kinematic reconstruction in order to achieve a detailed study of the decay modes and the underlying dynamics. Within this scope, highly segmented and high-efficiency detection systems are depicted. Developments in digital signal processing have made possible major advances in experimental nuclear physics. The combination of large numbers of channels with fast data acquisition systems is one of the key aspects of this modern technology. Nuclear reactions play a key role in the study of the structure of nuclear clusters. Therefore, aspects of acceleration, including high-intensity, low-energy stable and radioactive beams are presented. Targetry has received a renewed interest with the advent of active targets (ACTAR). The combination of radioactive beams and active targets for the study of nuclear clustering is certainly opening new horizons in this field of physics. A number of current experimental setups and computer codes are cited to illustrate some of the techniques described but this list is by no means exhaustive. © 2012 Springer-Verlag Berlin Heidelberg

Nematóides do Brasil. Parte V: nematóides de mamíferos Brazillan nematodes. Part V: nematodes of mammals

<abstract language="eng">A survey of nematode species parasitizing Brazilian mammals is presented, with enough data to provide their specific identification. The tirst section refers to the survey ofthe species, related to 21 superfamilies, 45 families, 160 genera and 495 species that are illustrated and measurement tables are given. The second section is concerned to the catalogue ofhost mammals which includes 34 families, 176 species and their respective parasite nematodes. The identification of these helminths is achieved by means of keys to the superfamilies, families and genera. Specific determination is induced through the figures and tables as above mentioned