GBA mutations in Gaucher type I Venezuelan patients: ethnic origins and frequencies.

Gaucher disease (GD), the most frequent lysosomal storage disease, is caused by heterogeneous mutations in the locus coding for glucocerebrosidase (GBA). It is an autosomal recessive disorder with different phenotypes of which the most frequent is the nonneuronopathic or type 1, prevalent worldwide. To date, more than 430 mutations have been described, but their frequency distribution varies in different populations with four, N370S, L444P, IVS2 + 1G > A and 84insG, being the most frequent ones.

Isonymic Relations in the Bolivia-Argentina Border Region.

When migrating, people carry their cultural and genetic history, changing both the transmitting and the receiving populations. This phenomenon changes the structure of the population of a country. The question is how to analyze the impact on the border region.

The beauty of sensory ecology.

Sensory ecology is a discipline that focuses on how living creatures use information to survive, but not to live. By trans-defining the orthodox concept of sensory ecology, a serious heterodox question arises: how do organisms use their senses to live, i.e.

The dengue virus non-structural protein 1 (NS1) is secreted from infected mosquito cells via a non-classical caveolin-1-dependent pathway.

Dengue virus NS1 is a glycoprotein of 46-50 kDa that is conserved among flaviviruses, associates as a dimer to cell membranes and is secreted as a hexamer to the extracellular milieu. Recent evidence showed that NS1 is secreted efficiently from infected mosquito cells. To explore the secretory route of NS1 in mosquito cells, infected cells were treated with brefeldin A (BFA) and methyl-beta-cyclodextrin (MβCD).

Ravuconazole self-emulsifying delivery system: in vitro activity against amastigotes and in vivo toxicity.

Self-emulsifying drug delivery systems (SEDDSs) are lipid-based anhydrous formulations composed of an isotropic mixture of oil, surfactant, and cosurfactants usually presented in gelatin capsules. Ravuconazole (Biopharmaceutics Classification System [BCS] Class II) is a poorly water-soluble drug, and a SEDDS type IIIA was designed to deliver it in a predissolved state, improving dissolution in gastrointestinal fluids. After emulsification, the droplets had mean hydrodynamic diameters <250 nm, zeta potential values in the range of -45 mV to -57 mV, and showed no signs of ravuconazole precipitation.

Activation of the CXCR4 chemokine receptor enhances biological functions associated with B16 melanoma liver metastasis.

The CXCR4 chemokine receptor plays an essential role in the homing of cells to organs expressing its ligand, CXCL12. CXCR4 expressed on tumor cells might regulate their traffic during metastasis. Here, we investigated whether the activation of CXCR4 on B16 murine melanoma cells regulates biological functions associated with metastasis, in vitro and in vivo.

Protein content of the Hylesia metabus egg nest setae (Cramer [1775]) (Lepidoptera: Saturniidae) and its association with the parental investment for the reproductive success and lepidopterism.

Unlabelled: Hylesia metabus is a neotropical moth possessing toxic setae, which once in contact with the skin cause a severe dermatitis to humans known as lepidopterism. The only known function of the setae in the life cycle is to provide protection during the mating and egg-hatching stages. Approximately 65% of the protein content of the setae is a cluster of five proteases (28-45kDa) showing sequence homology to other S1A serine proteases.

Antinociceptive effect of systemically administered dipyrone (metamizol), magnesium chloride or both in a murine model of cancer.

Background: Opioid effectiveness to treat cancer pain is often compromised by the development of tolerance and the occurrence of undesirable side effects, particularly during long-term treatment. Hence, the search for more efficient analgesics remains a necessity. The main goal of this study was to relieve neuropathic symptoms associated with tumour growth by administering the non-opioid analgesic dipyrone (DIP) alone or in combination with magnesium chloride (MgCl ), an adjuvant that blocks the NMDA receptor channel.

Most Martin-Bell syndrome (FMR1-related disorder) Venezuelan patients did not show CGG expansion but instead display genetic heterogeneity.

Martin-Bell syndrome is mainly caused by the expansion of CGG trinucleotide repeats (>200 CGG) in the first exon of the FMR1 gene, leading to hypermethylation of the promoter region and silencing of the FMR1 protein expression. These changes are responsible for a phenotype with varying degrees of mental retardation, a long face with large and protruding ears, macroorchidism and autistic behavior. There may also be, however, patients who exhibit typical features of the syndrome without any expansion in the FMR1 gene; thus, other mechanisms affecting the expression of the FMR1 gene were assessed in 25 out of 29 ascertained patients with the typical phenotype without full mutation.

Congenital Chagas' disease transmission in the United States: Diagnosis in adulthood.

Two brothers with congenitally-acquired Chagas' disease (CD) diagnosed during adulthood are reported. The patients were born in the USA to a mother from Bolivia who on subsequent assessment was found to be serologically positive for Trypanosoma cruzi. Serologic screening of all pregnant women who migrated from countries with endemic CD is strongly recommended.

Analysis of the CFTR gene in Venezuelan cystic fibrosis patients, identification of six novel cystic fibrosis-causing genetic variants.

The mutations in the CFTR gene found in patients with cystic fibrosis (CF) have geographic differences, but there are scant data on their prevalence in Venezuelan patients. This study determined the frequency of common CFTR gene mutations in a group of Venezuelan patients with CF. The 27 exons of the CFTR gene from 110 Venezuelan patients in the National CF Program were amplified and sequenced.

Comparative proteomic analysis of growth hormone secretagogue A233 treatment of murine macrophage cells J774A.2 indicates it has a role in antiviral innate response.

Background: Growth hormone secretagogues (GHS), among other factors, regulate the release of GH. The biological activity of the secretagogue peptide A233 as a promoter of growth and innate immunity in teleost fish has previously been demonstrated, but its role in the immune system of mammals is not well understood.

Methods: The effect of the peptide was investigated in J774A.

The opisthobranch gastropods (Mollusca: Heterobranchia) from Venezuela: an annotated and illustrated inventory of species.

The Caribbean waters of Venezuela are composed by a large variety of habitats, with over 2800 km of coastline, islands, and islets. This area is a transitional zone between two main biogeographic provinces, the Caribbean and the Brazilian, separated by the fresh water outflows of the Orinoco and Amazon rivers, and is therefore expected to be an area of high species diversity. However, concerning the study of molluscs, Venezuela is probably the poorest known region in the Caribbean.

Spinocerebellar ataxias in Venezuela: genetic epidemiology and their most likely ethnic descent.

Dominantly inherited ataxias (spinocerebellar ataxias, SCAs) are a genetically heterogeneous group of neurologic diseases characterized by progressive cerebellar and spinal tract degeneration with ataxia and other signs, common to all known subtypes. Several types are relatively frequent worldwide, but in several countries, one specific SCA may show a higher prevalence owing to founder phenomena. In Venezuela, genetic epidemiological features of SCAs have been assessed during the last 30 years; mutations in ATXN1 (SCA1), ATXN2 (SCA2), ATXN3 (SCA3), CACNA1A (SCA6), ATXN7 (SCA7), ATXN8 (SCA8), ATXN10 (SCA10), TBP (SCA17) and ATN1 (dentatorubral pallidoluysian atrophy, DRPLA) loci were searched among 115 independent families.

Weighting dissimilarities to detect communities in networks.

Many complex systems can be described as networks exhibiting inner organization as communities of nodes. The identification of communities is a key factor to understand community-based functionality. We propose a family of measures based on the weighted sum of two dissimilarity quantifiers that facilitates efficient classification of communities by tuning the quantifiers' relative weight to the network's particularities.

The microbiome of uncontacted Amerindians.

Most studies of the human microbiome have focused on westernized people with life-style practices that decrease microbial survival and transmission, or on traditional societies that are currently in transition to westernization. We characterize the fecal, oral, and skin bacterial microbiome and resistome of members of an isolated Yanomami Amerindian village with no documented previous contact with Western people. These Yanomami harbor a microbiome with the highest diversity of bacteria and genetic functions ever reported in a human group.

Cholesterol removal from adult skeletal muscle impairs excitation-contraction coupling and aging reduces caveolin-3 and alters the expression of other triadic proteins.

Cholesterol and caveolin are integral membrane components that modulate the function/location of many cellular proteins. Skeletal muscle fibers, which have unusually high cholesterol levels in transverse tubules, express the caveolin-3 isoform but its association with transverse tubules remains contentious. Cholesterol removal impairs excitation-contraction (E-C) coupling in amphibian and mammalian fetal skeletal muscle fibers.

Recent clinical trials for the etiological treatment of chronic chagas disease: advances, challenges and perspectives.

Chagas disease, a chronic systemic parasitosis caused by the Kinetoplastid protozoon Trypanosoma cruzi, is the first cause of cardiac morbidity and mortality in poor rural and suburban areas of Latin America and the largest parasitic disease burden in the continent, now spreading worldwide due to international migrations. A recent change in the scientific paradigm on the pathogenesis of chronic Chagas disease has led to a consensus that all T. cruzi-seropositive patients should receive etiological treatment.

Tetanic Ca2+ transient differences between slow- and fast-twitch mouse skeletal muscle fibres: a comprehensive experimental approach.

One hundred and eighty six enzymatically dissociated murine muscle fibres were loaded with Mag-Fluo-4 AM, and adhered to laminin, to evaluate the effect of modulating cytosolic Ca(2+) buffers and sarcoendoplasmic reticulum Ca(2+) ATPase (SERCA), mitochondria, and Na(+)/Ca(2+) exchanger (NCX) on the differential tetanic Ca(2+) transient kinetics found in different fibre types. Tetanic Ca(2+) transients were classified as morphology type I (MT-I) or type II (MT-II) according to their shape. The first peak of the MT-I (n = 25) and MT-II (n = 23) tetanic Ca(2+) transients had an amplitude (∆F/F) of 0.

The First Report of Tomato spotted wilt virus on Gerbera and Chrysanthemun in Venezuela.

Gerbera (Gerbera jamesonii) and Chrysanthemum (family Asteraceae) are two of the top 10 cut flowers of the world, with great commercial value. Since 1998, Venezuela began a floral industry to produce and export fresh cut gerbera and chrysanthemum, with 40% of nurseries concentrated in Altos Mirandinos (Miranda State, north central region of the country). For the past 2 years, greenhouse-grown gerbera and chrysanthemum have been observed displaying symptoms resembling those associated with tospoviruses.

Cryptosporidium and Giardia in tropical recreational marine waters contaminated with domestic sewage: estimation of bathing-associated disease risks.

Sewage is a major contributor to pollution problems involving human pathogens in tropical coastal areas. This study investigated the occurrence of intestinal protozoan parasites (Giardia and Cryptosporidium) in tropical recreational marine waters contaminated with sewage. The potential risks of Cryptosporidium and Giardia infection from recreational water exposure were estimated from the levels of viable (oo) cysts (DIC+, DAPI+, PI-) found in near-shore swimming areas using an exponential dose response model.

Influence of anatase and rutile phase in TiO2 upon the photocatalytic degradation of methylene blue under solar irradiation in presence of activated carbon.

The influence of activated carbon (AC) on the photocatalytic activity of different crystalline TiO2 phases was verified in the photocatalytic degradation of methylene blue under UV and solar irradiation. The results showed a volcano trend with a maximum photoactivity for the crystalline phase ratio of anatase:rutile equal to 80:20 both under UV or solar irradiation. By contrast, in presence of AC the photocatalytic activity of the binary materials of TiO2/AC followed an exponential trend, increasing as a function of the increase in anatase proportion in the TiO2 framework.