In vitro effect of globotriaosylceramide on electron transport chain complexes and redox parameters.

Fabry disease (FD) is an X-linked inherited disease and occurs due to mutations in GLA gene that encodes the α-galactosidase enzyme. Consequently, there is an accumulation of enzyme substrates, namely globotriaosylceramide (GB3). FD is a multisystemic disease, caused by storage of GB3 in vascular endothelia, with significant renal, cardiac and vascular involvement. The aim of this work was to evaluate the in vitro effect of GB3 on electron transport chain complexes (ETC) and redox parameters. Biochemical biomarkers were determined in homogenates of cerebral cortex, kidneys and liver of Wistar rats in the presence or absence of GB3 at concentrations of 3, 6, 9 and 12 mg/L. We found that GB3 caused an increase of ETC complexes II and IV activities, increased production of reactive species and decreased superoxide dismutase enzyme activity in homogenates of cerebral cortex. As well also increased production of reactive species and superoxide dismutase activity in kidney homogenates. The results obtained in our work suggest that GB3 interferes in ETC complexes II and IV activities, however, the magnitude of this increase seems to be too low to present a physiologically importance. However, the imbalance in cellular redox state indicating that these alterations may be involved in the pathophysiology of FD, mainly in renal and cerebral manifestations.

Eficácia do Epi-No® na diminuição da episiotomia e risco de lesão perineal pós-parto: revisão sistemática / Effectiveness of Epi-No® in decline episiotomy and risk of injury perineal postpartum: systematic review

A pergunta mais clássica das gestantes ou futuras mães seria qual tipo de parto escolher. Para as que pretendem ter parto normal, o desejo é ter seu períneo íntegro após o parto. Como a taxa de episiotomia aumentou consideravelmente, e atualmente é a operação cirúrgica mais frequente em mulheres no mundo, surge à necessidade de pesquisar quais métodos seriam capazes de minimizar ou evitar esse procedimento. Este estudo objetivou avaliar a eficácia de um aparelho em forma de balão que infla com ajuda de um medidor de pressão denominado Epi-No® na redução da necessidade de episiotomia e na diminuição do risco de lesão pós-parto. Foi realizada uma revisão sistemática da literatura, de estudos clínicos randomizados, que investigassem os efeitos do Epi-No® levantados no período de 24 a 30 de setembro de 2014 através das palavras-chave. Inicialmente foram encontrados 1.149 artigos, seguindo os critérios de inclusão e exclusão, o número foi reduzido, sendo analisados 6 artigos neste estudo. Conclui-se então que o uso do Epi-No® parece ser eficaz na redução de episiotomia e lesões pós-parto, no entanto são necessários mais estudos controlados randomizados com maiores números amostrais para determinar melhor a sua eficácia.(AU)

The most classic question of pregnant women or future mothers is: which type of delivery to choose? For those who intend to take normal delivery, the desire is that the perineum remain integrate after delivery. Since episiotomy rate has increased considerably and is currently the most common surgical procedure in women in the world, comes the need to know which methods would be effective to prevent it. This study aimed to evaluate the effectiveness of a balloon-like device that inflates with the help of a pressure gauge known as Epi-No® in reducing the need for episiotomy and decreased risk of postpartum injury. A systematic literature review was performed with randomized clinical trials to investigate the effects of Epi-No®, from September 24 to 30, using keywords. Initially, were found 1.149 articles, following the inclusion and exclusion criteria, the number was reduced and 6 articles wer analyzed in this study. The conclusion is that Epi-No® appears to be effective in reducing episiotomy and postpartum injuries, but we need more randomized controlled trials with larger sample numbers to better determine their effectiveness.(AU)

Pitfalls in the prenatal diagnosis of mucolipidosis II alpha/beta: A case report.

Mucolipidosis II alpha/beta is an autosomal recessive disorder caused by deficient activity of GlcNAc-1-phosphotransferase. We report the prenatal diagnosis of a fetus who was found to exhibit normal levels of lysosomal enzymes in the amniotic fluid but low levels in amniocytes, and who was found to be heterozygous for the most common GNPTAB mutation. As in some carriers of Mucolipidosis II biochemical abnormalities may hinder prenatal diagnosis, we suggest DNA analysis should be performed whenever possible.