Down Syndrome Resulting from a Rare non-Robertsonian Translocation t(11;21)(p13;q22)

Introduction: Down syndrome (DS) is a common genetic disorder, occurring in approximately 1 in 700 births. It results from an extra copy (triplication) of the whole or part of the long arm of chromosome 21 caused by different cytogenetic alterations: free trisomy, Robertsonian translocations, mosaicism, duplication of the critical region and other structural rearrangements. Non-Robertsonian chromosome translocations are very rare events with few cases reported. Case Report: We identified the non-Robertsonian translocation t(11;21)(p13;q22) and two chromosomes 21 in a female child referred with a clinical diagnosis of trisomy 21.  The infant developed the transient myeloproliferative disorder at 17 months. Cytogenetic analysis was performed in lymphocytes and bone marrow metaphases according to standard procedure - G banding and fluorescence in situ hybridization.  The karyotype study of the parents revealed that her phenotypically normal mother carries the same reciprocal translocation. Conclusion: This is the second report of the translocation t(11;21)(p13;q22),  the first one resulting in DS.  This description expands knowledge about cytogenetic variability in the etiology of DS. Future studies are needed to investigate the long-term clinical effects of the trisomy 21 associated with t(11;21)(p13;q22)

Uptake and biological effects of the insecticide Fipronil on seabass

17th International Conference on Chemistry and the Environment (ICCE 2019), 16-20 June 2019, Thessaloniki, Greece.-- 3 pages, 2 figures, 2 tablesThe phenylpyrazole Fipronil is one of the most widely used insecticides in crops worldwide. Its use was banned by the European Union in April/2013 (Directive ECC Nº 781/2013) due to its harmful effects to non-target species (Gripp et al., 2017; Schlenk et al., 2001; Stefani Margarido et al., 2013). Despite this, Spain, the largest Fipronil consumer in Europe in sunflower crops, is still reluctant to adhere to the European directive alluding to few on-site studies that proved their toxicity. The aim of the present study was to assess a suite of biomarker responses on seabass (Dicentrarchus labrax) exposed through diet to Fipronil under two environmentally-realistic temperature regimes. Juveniles of D. labrax were acclimated (14 days) to two temperature regimes of 13 and 16 ºC. Then, fish were fed spiked food with 10 mg/Kg of Regent®800WG (80% Fipronil) during two weeks, after which a depuration period of one week (feeding with unspiked food) was allowed. Eight fish were sampled at each temperature before Fipronil exposure (t0), after 7 and 14 days exposure (t7 and t14) and after a 7-day depuration period (t21), and dissected according to a standardized protocol. Feeding rate was calculated for each condition (temperature × time) and morphometric measurements were recorded for each fish. Concentration of Fipronil and its main metabolite Fipronil sulfone was determined in bile by LC-HRMS and in muscle (only Fipronil) by GC-MS. Metabolic and oxidative-stress related markers were assessed in different tissues: lactate dehydrogenase (LDH), six Cytochrome P450-related (CYP) enzymes, NAD(P)H cyt c and NADH ferricyanide reductases, uridine diphosphate glucuronyltransferase (UDPGT) and glutathione S-transferase (GST) and the antioxidant enzymatic responses catalase (CAT), glutathione reductase (GR) and glutathione peroxidase (GPX) activities, as well as the marker indicative of oxidative stress damage: lipid peroxidation (LPO) levels. Differences between temperatures and time-groups (t0, t7, t14 and t21) were tested by ANOVA contrast

A comprehensive study on the effects of Fipronil in the marine teleost Dicentrarchus labrax under two temperature regimes

31st European Society for Comparative Biochemistry and Physiology (ESCPB), Shifting Biological Landscapes: from molecules to mechanisms, 9-12 September 2018, Porto, PortugalFipronil (FIP) is a phenylpyrazole broadly used as insecticide for plant crops. However, due to its role as endocrine disruptor, it has been banned in many European countries but not in Spain. Temperature is a key factor affecting the bioavailability, toxicity and metabolism of many chemicals in several ectothermic species, including fish. Therefore, under predicted scenarios of climate change (CC), temperature increases might influence the effects of chemical exposures. This study constitutes an integrative approach on the consequences of FIP exposure to fish through the diet (10 mg·Kg-1 food) under different temperatures. The effects were measured after 7 and 14 days of administration and also 7 days after withdrawal of FIP from the food (depuration), at 13°C (natural temperature) and 16°C (3°C increase in a CC scenario). The European sea bass (Dicentrarchus labrax) was chosen as fish model due to its importance in Mediterranean aquaculture species and the chemical exposures under CC conditions may have economic consequences and human health impact. Markers of xenobiotic biotransformation, oxidative stress, immunology, neurotoxicity and reproduction were assessed. The main endpoints were enzymatic activities, metabolites, gene expression, sex hormones and histopathological alterations. The targeted tissues included brain, gills, liver, muscle, gonads and plasma. The results showed histological alterations in female gonads, with the presence of large intra-follicular spaces, 14 days after FIP exposure that persisted 7 days after depuration, together with the presence of oxidative stress damage. However, the temperature regime seemed to have little influence on the modulation of the responses to the chemical.Peer Reviewe

Effects of the herbicides acetochlor and metolachlor on antioxidant enzymes in soil bacteria

The aim of this study was to investigate the antioxidant responses of three bacteria (SD1. KD and K9) isolated from soil previously treated with the herbicides metolachlor and acetochlor. By 165 rRNA gene sequencing, we determined that SD1 is phylogenetically related to Enterobacter asburiae, while KD and K9 have divergent genomes that more closely resemble that of Enterobacter amnigenus. Decreased levels of lipid peroxidation were observed in SD1 and KD following treatment with 34 mM metolachlor or 62 mM acetochlor, respectively, indicating that both bacteria were able to adapt to an increase in ROS production. In the presence of 34 mM metolachlor or 62 mM acetochlor, all bacterial isolates exhibited increases in total catalase (CAT) activity (81% for SDI, 53% for KD and 59% for K9), whereas total SOD activity (assessed based on the profile and intensity of the bands) was slightly reduced when the bacteria were exposed to high concentrations of the herbicides (340 mM metolachlor or 620 mM acetochlor). This effect was due to a specific reduction in SOD IV (K9 and KD isolates) by 45% and 90%, respectively, and SOD V (SD1 isolate) isoenzymes by 60%. The most striking result was obtained in the SD1 isolate, where two novel isoenzymes of glutathione reductase (GR) that responded specifically to metolachlor were identified. In addition, acetochlor was shown to induce the expression of a new 57 kDa protein band in the K9 and KD isolates. The bacteria isolated from the herbicide-contaminated soil exhibited an efficient antioxidant system response at herbicide concentrations of up to 34 mM metolachlor or 62 mM acetochlor. These data suggest a mechanism for tolerance that may include the control of an imbalance in ROS production versus scavenging. The data suggest that specific isoenzymes of CAT and GR could be involved in this herbicide tolerance mechanism. (C) 2011 Elsevier Ltd. All rights reserved.Fundacao de Amparo a Pesquisa do Estado de Sao Paulo (FAPESP)[09/54676-0]Fundacao de Amparo a Pesquisa do Estado de Sao Paulo (FAPESP)[04/08444-6]Conselho Nacional de Desenvolvimento Cientifico e Tecnologico (CNPq-Brazil

Implementation of a Brazilian Cardioprotective Nutritional (BALANCE) Program for improvement on quality of diet and secondary prevention of cardiovascular events: A randomized, multicenter trial

Background: Appropriate dietary recommendations represent a key part of secondary prevention in cardiovascular disease (CVD). We evaluated the effectiveness of the implementation of a nutritional program on quality of diet, cardiovascular events, and death in patients with established CVD. Methods: In this open-label, multicenter trial conducted in 35 sites in Brazil, we randomly assigned (1:1) patients aged 45 years or older to receive either the BALANCE Program (experimental group) or conventional nutrition advice (control group). The BALANCE Program included a unique nutritional education strategy to implement recommendations from guidelines, adapted to the use of affordable and regional foods. Adherence to diet was evaluated by the modified Alternative Healthy Eating Index. The primary end point was a composite of all-cause mortality, cardiovascular death, cardiac arrest, myocardial infarction, stroke, myocardial revascularization, amputation, or hospitalization for unstable angina. Secondary end points included biochemical and anthropometric data, and blood pressure levels. Results: From March 5, 2013, to Abril 7, 2015, a total of 2534 eligible patients were randomly assigned to either the BALANCE Program group (n = 1,266) or the control group (n = 1,268) and were followed up for a median of 3.5 years. In total, 235 (9.3%) participants had been lost to follow-up. After 3 years of follow-up, mean modified Alternative Healthy Eating Index (scale 0-70) was only slightly higher in the BALANCE group versus the control group (26.2 ± 8.4 vs 24.7 ± 8.6, P <.01), mainly due to a 0.5-serving/d greater intake of fruits and of vegetables in the BALANCE group. Primary end point events occurred in 236 participants (18.8%) in the BALANCE group and in 207 participants (16.4%) in the control group (hazard ratio, 1.15; 95% CI 0.95-1.38; P =.15). Secondary end points did not differ between groups after follow-up. Conclusions: The BALANCE Program only slightly improved adherence to a healthy diet in patients with established CVD and had no significant effect on the incidence of cardiovascular events or death. © 2019 The Author