Mutação monoalélica no gene da tireoperoxidase em paciente com hipotireoidismo congênito com defeito total de incorporação de iodeto

The aim of this study was to identify the genetic defect of a patient with dyshormonogenetic congenital hypothyroidisms (CH) with total iodide organification defect (TIOD). A male child diagnosed with CH during neonatal screening. Laboratory tests confirmed the permanent and severe CH with TIOD (99% perchlorate release). The coding sequence of TPO, DUOX2, and DUOXA2 genes and 2957 base pairs (bp) of the TPO promoter were sequenced. Molecular analysis of patient's DNA identified the heterozygous duplication GGCC (c.1186_1187insGGCC) in exon 8 of the TPO gene. No additional mutation was detected either in the TPO gene, TPO promoter, DUOX2 or DUOXA2 genes. We have described a patient with a clear TIOD causing severe goitrous CH due to a monoallelic TPO mutation. A plausible explanation for the association between an autosomal recessive disorder with a single TPO-mutated allele is the presence of monoallelic TPO expression.O objetivo deste estudo foi identificar defeitos genéticos em paciente com hipotireoidismo congênito (HC) por disormonogênese e defeito total de incorporação de iodeto (DIIT). Neonato do sexo masculino com HC diagnosticado pelo rastreamento neonatal. Exames clínicos e radiológicos confirmaram que o paciente apresentava HC severo e permanente com DIIT (teste de perclorato: 99%). A região codificadora dos genes TPO, DUOX2, DUOXA2 e 2957 pares de bases (pb) do promotor de TPO foram sequenciados. No paciente foi identificada a duplicação em heterozigose GGCC no éxon 8 do gene TPO (c.1186_1187insGGCC). Nenhuma outra mutação foi localizada nos genes TPO, incluindo o promotor, DUOX2 ou DUOXA2. Descrevemos paciente com grave defeito de organificação de iodeto, provocando HC severo com bócio, em consequência de uma única mutação monoalélica no gene TPO. A expressão monoalélica no tecido tireoideano explicaria a associação de uma doen­ça autossômica recessiva com uma única mutação monoalélica

Synthesis, Characterization And Catalytic Potential Of Mgnio2 Nanoparticles Obtained From A Novel [mgni(opba)]n·9nh2o Chain

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)We describe herein the synthesis of MgNiO2 nanoparticles employing a new one-dimensional system [MgNi(opba)]n·9nH2O, with opba standing for ortho-phenylenebis(oxamato), as precursor. The MgNiO2 nanoparticles could be obtained after heat-treatment at 800 °C for 5 h under air atmosphere, which was responsible for the elimination of water and organic precursor material leading the formation of nanoparticles with average size of 40±9 nm. To this end, we first described the synthesis of [MgNi(opba)]n·9nH2O chain, which was obtained using a pre-synthetized Na2[Ni(opba)]·5H2O and Mg2+ (molar ratio of 1:1) in aqueous media and then this chain was calcined to produce the desired MgNiO2 nanoparticles. The obtained MgNiO2 nanoparticles showed good catalytic performance towards ethanol decomposition achieving 100% of substrate conversion and producing acetaldehyde (56.8%) and hydrogen (24.8%) as the main gaseous products. Also, carbon based structures of great interest for technological applications, carbon nanotubes and onions were formed as valuable byproducts. Thus, we believe that our reported results may inspire the synthesis of catalysts with improved performances for applications in other gas-phase transformations. © 2016 Elsevier Ltd and Techna Group S.r.l.42121363513641CAPES, Coordenação de Aperfeiçoamento de Pessoal de Nível SuperiorFAPEMIG - CEX-APQ-02159-12, FAPEMIG, Fundação de Amparo à Pesquisa do Estado de Minas GeraisCoordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES

ASSESSMENT OF BENZOPHENANTHRIDINE AND PROTOPINE ALKALOIDS IN BROILER CHALLENGED AND NOT BY SALMONELLA HEIDELBERG

ABSTRACT Salmonellosis is a globally important zoonosis, and Salmonella Heidelberg is one of the most prevalent serovars in poultry production worldwide, as well as in food poisoning cases. Antimicrobial drugs were previously widely used to face health challenges in animal production; however, since their ban as performance enhancers, many alternative strategies have been proposed. One of these strategies is the use of plant extracts, such as those containing the alkaloids benzophenanthridine and protopine. These compounds have antimicrobial, anti-inflammatory, immunomodulation, and nutritional effects. The objective of the present study was to evaluate the effects of the supply of a product containing benzophenanthridine and protopine (Sangrovit(r)WS 100 g/1000 L of drinking water) to broilers during different rearing periods 1-21, 1-6 and 6-21 days of age challenged or not with Salmonella Heidelberg at six days of age. There was no effect of the product on the performance, jejunal morphometry, cecal goblet cell counts, or control of Salmonella spp. in broilers challenged or not with Salmonella Heidelberg. However, the group receiving the alkaloids from 1 to 21 days of age, compared with the control group, presented a numerical difference of 28 points in productive efficiency index, which directly impacts live production cost of live broiler, representing savings of R$ 0.11/kg of meat produced

Reproductive performance of sows submitted to intrauterine insemination Desempenho reprodutivo de matrizes suínas inseminadas pela técnica intrauterina

The objective of this study was to evaluate the reproductive performance of sows artificially inseminated by the intrauterine (IAIU) technique. The experiment was arranged in a randomized complete block design, with 300 sows being distributed in five insemination techniques: control, intra-cervical (IAIC) with 3x10(9) spermatozoa/100 mL; intrauterine (IAIU) with 1x10(9) spermatozoa/100 mL; intrauterine with com 1x10(9) spermatozoa/50 mL; intrauterine with 5x10(8) spermatozoa/100 mL; and intrauterine com 5x10(8) spermatozoa/50 mL. The sows submitted to intrauterine insemination presented a farrowing rate of 90.8% and return to estrus rate of 9.2%, which did not differ from the rates obtained by the intra-cervical technique (90.0% and 10.0%, respectively). Total litter size did not differ between the techniques, with the means being from 11.4 to 11.9 piglets at farrowing. Although 4.6% of the sows submitted to intrauterine artificial insemination had difficulty with pipette insertion into the cervix, 100% of them were inseminated. When evaluating semen backflow, no difference was found between the intra-cervical and intrauterine insemination techniques. However, total semen backflow was higher in sows submitted to inter-cervical insemination. No difference was found in the presence of blood between the two methods evaluated. Hence, any of the intrauterine insemination techniques can substitute inter-cervical artificial insemination without damaging the reproductive performance of the animals.<br>Um experimento foi realizado com o objetivo de avaliar o desempenho reprodutivo de matrizes suínas inseminadas pela técnica intrauterina (IAIU). Em um delineamento inteiramente casualizado, 300 fêmeas foram distribuídas em cinco técnicas de inseminação: controle - intracervical (IAIC) com 3x10(9) espermatozoides/100 mL; intrauterina (IAIU) com 1x10(9) espermatozoides/100 mL; intrauterina com 1x10(9) espermatozoides/50 mL; intrauterina com 5x10(8) espermatozoides/100 mL; e intrauterina com 5x10(8) espermatozoides/50 mL. As fêmeas inseminadas pela técnica intrauterina apresentaram taxa de parto de 90,8% e taxa de repetição de estro de 9,2%, que não diferiram das taxas obtidas pela técnica intracervical (90,0% e 10,0%, respectivamente). O total de leitões nascidos não diferiu entre as técnicas, com média geral de 11,4 a 11,9 leitões por parto. Apesar da dificuldade na passagem da pipeta em 4,6% das fêmeas submetidas à inseminação artificial intrauterina, 100% das fêmeas foram inseminadas. Na avaliação da ocorrência de refluxo de sêmen, não houve diferença entre as técnicas de inseminação intracervical e intrauterina. Entretanto, o total de espermatozoides refluídos foi maior nas fêmeas submetidas à inseminação intracervical. A ocorrência de sangramento não diferiu entre as técnicas estudadas. Portanto, qualquer uma das técnicas de inseminação intrauterina pode substituir a inseminação artificial intracervical, pois não comprometem o desempenho reprodutivo dos animais