Clinico-genetic aspects of a pediatric non-neurofibromatosis type 1 malignant triton tumor with loss of chromosome X

Malignant triton tumor (MTT) is an aggressive peripheral nerve sheath tumor with rhabdomyoblastic differentiation. Less than 100 cases have been described, being mostly male children with type 1 neurofibromatosis. We report a 6-year-old female with MTT and no diagnostic criteria for neurofibromatosis type 1. Cytogenetic analysis showed a 46,X,-X[4]/46,XX[16] karyotype. She underwent a transfemoral amputation and chemotherapy and is free of disease 15 months after diagnosis. The few cytogenetic studies of MTT described in the literature have been inconclusive. Further cytogenetic analyses are needed to understand the role of chromosome X monosomy in the pathogenesis of this rare tumor. Pediatr Blood Cancer 2012; 59: 13201323. (C) 2012 Wiley Periodicals, Inc.

Gene expression profiles displayed by peripheral blood mononuclear cells from patients with type 2 diabetes mellitus focusing on biological processes implicated on the pathogenesis of the disease

Patients with type 2 diabetes mellitus (T2DM) exhibit insulin resistance associated with obesity and inflammatory response, besides an increased level of oxidative DNA damage as a consequence of the hyperglycemic condition and the generation of reactive oxygen species (ROS). In order to provide information on the mechanisms involved in the pathophysiology of T2DM, we analyzed the transcriptional expression patterns exhibited by peripheral blood mononuclear cells (PBMCs) from patients with T2DM compared to non-diabetic subjects, by investigating several biological processes: inflammatory and immune responses, responses to oxidative stress and hypoxia, fatty acid processing, and DNA repair. PBMCs were obtained from 20 T2DM patients and eight non-diabetic subjects. Total RNA was hybridized to Agilent whole human genome 4x44K one-color oligo-microarray. Microarray data were analyzed using the GeneSpring GX 11.0 software (Agilent). We used BRB-ArrayTools software (gene set analysis - GSA) to investigate significant gene sets and the Genomica tool to study a possible influence of clinical features on gene expression profiles. We showed that PBMCs from T2DM patients presented significant changes in gene expression, exhibiting 1320 differentially expressed genes compared to the control group. A great number of genes were involved in biological processes implicated in the pathogenesis of T2DM. Among the genes with high fold-change values, the up-regulated ones were associated with fatty acid metabolism and protection against lipid-induced oxidative stress, while the down-regulated ones were implicated in the suppression of pro-inflammatory cytokines production and DNA repair. Moreover, we identified two significant signaling pathways: adipocytokine, related to insulin resistance; and ceramide, related to oxidative stress and induction of apoptosis. In addition, expression profiles were not influenced by patient features, such as age, gender, obesity, pre/post-menopause age, neuropathy, glycemia, and HbA(1c) percentage. Hence, by studying expression profiles of PBMCs, we provided quantitative and qualitative differences and similarities between T2DM patients and non-diabetic individuals, contributing with new perspectives for a better understanding of the disease. (C) 2012 Elsevier B.V. All rights reserved.

On Site Stripping Voltammetric Determination of Zn(II), Cd(II) and Pb(II) in Water Samples of the Cananeia-Iguape Estuarine-Lagoon Complex in Sao Paulo State, Brazil

Estuarine systems play an important role in the retention of toxic trace elements owing to the affinity of these elements with particles dissolved in water. This work presents the use of a voltammetric sensor to monitor heavy metal (Zn (II), Cd(II) and Pb (II)) concentrations in the Cananeia-Iguape Estuarine-Lagoon region (Sao Paulo State, Brazil). Lower concentrations were found in the Southern estuarine system (Cananeia City) and increased concentrations observed in the Northern sector (Iguape City) were promoted by anthropogenic activities, with particular influence from the historical introduction of mining wastes and inputs from agricultural, industrial and domestic effluents. The proposed method is reliable, inexpensive and fast, can simultaneously provide information on the concentration of these metallic ions and can be easily used for field measurements aboard oceanographic ships.

On site stripping voltammetric determination of Zn(II), Cd(II) and Pb(II) in water samples of the Cananéia-Iguape Estuarine-Lagoon complex in São Paulo state, Brazil

Estuarine systems play an important role in the retention of toxic trace elements owing to the affinity of these elements with particles dissolved in water. This work presents the use of a voltammetric sensor to monitor heavy metal (Zn (II), Cd(II) and Pb (II)) concentrations in the Cananéia-Iguape Estuarine-Lagoon region (São Paulo State, Brazil). Lower concentrations were found in the Southern estuarine system (Cananéia City) and increased concentrations observed in the Northern sector (Iguape City) were promoted by anthropogenic activities, with particular influence from the historical introduction of mining wastes and inputs from agricultural, industrial and domestic effluents. The proposed method is reliable, inexpensive and fast, can simultaneously provide information on the concentration of these metallic ions and can be easily used for field measurements aboard oceanographic ships.

Effect of pH-induced nanopowder deagglomeration on sintering, microstructure and dielectric properties of Ba0.77Ca0.23TiO3 ceramics

Ba0.77Ca0.23TiO3 ceramics were produced in this work starting from nanopowders synthesized via a polymeric precursor method. By adjusting the pH values of the precursor solutions above 7, it was possible to prepare powders weakly aggregated and with a smaller particle size, both facts which traduced into an enhanced nanopowders' sintering process at comparatively lower temperatures. Irrespective of the initial pH value, highly-dense and second phase-free ceramics were obtained following optimal sintering parameters (temperature and time) extracted from dilatometric and density measurements. By considering these and other sintering conditions, moreover, polycrystalline materials with an average grain size varying from 0.35 to 8 mm were produced, the grain growth process involving liquid phase-assisted sintering for heat treatments achieved at 1320 °C. The study of grain size effects on the ferroelectric properties of these materials was conducted, the results being discussed in the light of previous debates, including grain size-dependent degree of tetragonal distortion in such materials, as verified in this work.