Frequency and spectrum of hemoglobinopathy mutations in a Uruguayan pediatric population

Hemoglobinopathies are the most common recessive diseases worldwide but their prevalence in Uruguay has not been investigated. In this study, 397 unrelated outpatient children from the Pereira Rosell Hospital Center (CHPR), as well as 31 selected patients with microcytic anemia and 28 β-thalassemia carriers were analyzed for hemoglobinopathies by using biochemical and molecular biology methods. Parametric and non-parametric methods were used to compare the hematological indices between groups of genotypes. Of the 397 patients in the first group, approximately 1% (0.76% HbS and 0.25% β-thalassemia) had a mutation in the HBB gene and 3.3% had β-thalassemia. These mutations had a heterogeneous distribution that varied according to individual ancestry. HbS was found exclusively in individuals with declared African ancestry and had a carrier frequency of 2.2%. The frequency of α-thalassemia carriers in outpatients of European and African ancestry was 1.2% and 6.5%, respectively. In contrast, the frequency of α-thalassemia carriers in patients with microcytic anemia was 25.8%, significantly higher (p < 0.01) than that observed in the sample as a whole and in Afro-descendants and Euro-descendants. Significant differences were observed in the hematological parameters between individuals with thalassemia genotypes and those with a normal genotype. These results indicate that hemoglobinopathies are a relevant health problem in Uruguay.     

Absence of nuclear receptors LXRs impairs immune response to androgen deprivation and leads to prostate neoplasia

Chronic inflammation is now a well-known precursor for cancer development. Infectious prostatitis are the most common causes of prostate inflammation, but emerging evidence points the role of metabolic disorders as a potential source of cancer-related inflammation. Although the widely used treatment for prostate cancer based on androgen deprivation therapy (ADT) effectively decreases tumor size, it also causes profound alterations in immune tumor microenvironment within the prostate. Here, we demonstrate that prostates of a mouse model invalidated for nuclear receptors liver X receptors (LXRs), crucial lipid metabolism and inflammation integrators, respond in an unexpected way to androgen deprivation. Indeed, we observed profound alterations in immune cells composition, which was associated with chronic inflammation of the prostate. This was explained by the recruitment of phagocytosis-deficient macrophages leading to aberrant hyporesponse to castration. This phenotypic alteration was sufficient to allow prostatic neoplasia. Altogether, these data suggest that ADT and inflammation resulting from metabolic alterations interact to promote aberrant proliferation of epithelial prostate cells and development of neoplasia. This raises the question of the benefit of ADT for patients with metabolic disorders.

Mice lacking the liver X nuclear receptors (LXRs), crucial integrators of lipid metabolism, were used to study the response of the prostate to androgen deprivation. This reveals that lack of androgens leads to chronic inflammation due to impaired clearance of castration-induced apoptotic cells, allowing production of pro-inflammatory cytokines and promoting prostate neoplasia.     

First report of Pseudococcus viburni (Hemiptera: Pseudococcidae) in Colombia: Morphometric and molecular analysis,with notes on morphological variation in specimens from Brazil and Colombia

The obscure mealybug Pseudococcus viburni (Signoret) (Hemiptera: Pseudococcidae) is recorded for the first time from Colombia based on specimens collected on Opuntia cylindrica (Lam.) DC., Mammillaria sp. (Cactaceae), Escallonia paniculata (Ruiz & Pav.), Roem. & Schult. (Escalloniaceae), Ficus carica L. (Moraceae), Coffea arabica L. (Rubiaceae), Citrus sp. (Rutaceae), Cestrum nocturnum L. and Solanum betaceum Cavanilles (Solanaceae). Multiple methods were used to identify P. viburni because it belongs to the “Pseudococcus maritimus” complex, a group composed of more than 60 species with high variation in morphological characteristics. The specimens were identified based on the morphology and morphometric analysis of third-instar nymphs and adult females. This morphological identification was corroborated by data on geographical distribution, plant hosts and a molecular identification using two different loci, CO1 (mtDNA) and the 28S ribosomal gene (nuclear genome). An updated list of species of Pseudococcus Westwood recorded from Colombia and information on morphological variation found in the studied specimens from Brazil and Colombia are provided.     

Interactions in caffeine-sucrose and coffee-sucrose mixtures: evidence of taste and flavor suppression

Taste–taste and flavor–taste interactions (suppression)in caffeine–sucrose and coffee–sucrose mixtureswere determined. Similar interactions for both types of mixturesshowed an extended hypoadditivity effect for overall taste orflavor intensity (percentage of suppression about 30–40%).Futhermore, mutual suppression among the components has beendetermined. Firstly, the physical intensity of the suppressivecomponent controls the amount of suppression of the other component.Thus, the suppression of bitterness and coffee flavor qualitiesincrease when sucrose levels increase, and similarly, the suppressionof sweetness increases when caffeine or coffee levels rise.Secondly, the magnitude of suppression depends upon the qualityof the suppressive component. Comparisons of the reciprocalactions were made at similar subjective intensities of the mixture'sconstituents in isolation. The results showed that, at similarperceived intensities, caffeine bitterness or coffee flavorwere suppressed by sucrose but sweetness was not affected bycaffeine or coffee.     

Homology,disruption and phenotypic analysis of CaGS Candida albicans gene induced during macrophage infection

During macrophage infection Candida albicans expresses differentially several genes whose functions are associated with its survival strategy. Among others, we have isolated CaGS gene, which is homologous to SNF3, a glucose sensor of Saccharomyces cerevisiae. To elucidate its potential role during infection, CaGS has been disrupted and the resulting phenotype analyzed on different solid media. The null mutant lost the ability to form hyphae on a medium with low glucose concentration and serum. Furthermore, this mutant does not disrupt macrophage in in vitro infections. We believe that this putative glucose sensor is involved in hyphal development during macrophage infection.