LINE-1 DNA METHYLATION AND CONGENITAL HEART DEFECTS IN DOWN SYNDROME

DNA methylation is a key epigenetic mechanism that plays a significant role in regulating gene activity during cardiac development. Congenital heart defects (CHD) are one of the most common abnormalities occurring in 40% -60% of cases with Down syndrome (DS). The main aim of this study was to establish the association of long interspersed nucleotide element-1 (LINE-1) DNA methylation in children with DS and the presence of CHD. The LINE-1 DNA methylation was investigated in peripheral blood lymphocytes on a sample of 42 people with DS by quantification of LINE-1 methylation using the MethyLight method. No significant differences in global DNA methylation were found according to the presence of CHD (P=1.000), but values of LINE-1 DNA methylation were significantly influenced by gender (R2=19.1%; P=0.025). Significant probability of 19.1% was found in women with DS who had lower LINE-1 DNA methylation values than DS male. Gender was a statistically significant predictor of LINE-1 DNA methylation, although the difference was not statistically significant, female subjects had lower LINE-1 DNA methylation values (P=0.068). Further research will clarify the role of lower LINE-1 DNA methylation in the formation of CHD among DS females

European survey on laboratory preparedness, response and diagnostic capacity for crimean-congo haemorrhagic fever, 2012

Crimean-Congo haemorrhagic fever (CCHF) is an infectious viral disease that has (re-)emerged in the last decade in south-eastern Europe, and there is a risk for further geographical expansion to western Europe. Here we report the results of a survey covering 28 countries, conducted in 2012 among the member laboratories of the European Network for Diagnostics of 'Imported' Viral Diseases (ENIVD) to assess laboratory preparedness and response capacities for CCHF. The answers of 31 laboratories of the European region regarding CCHF case definition, training necessity, biosafety, quality assurance and diagnostic tests are presented. In addition, we identifi

Peripheral oxytocin treatment affects the rat adreno-medullary catecholamine content modulating expression of vesicular monoamine transporter 2

The neuropeptide oxytocin has been shown to influence on neuroendocrine function. The aim of the present study was to investigate the effect of peripheral oxytocin treatment on the synthesis, uptake and content of adreno-medullary catecholamine. For this purpose oxytocin (3.6 mu g/100 g body weight, s.c) was administrated to male rats once a day over 14 days. In order to assess the effect of peripheral oxytocin treatment on adreno-medullary catecholamine we measured epinephrine and norepinephrine content and gene expression of tyrosine hydroxylase (TH), norepinephrine transporter (NET) and vesicular monoamine transporter 2 (VMAT2) in the adrenal medulla. Our results show a significant increase of epinephrine (1.7-fold, p LT 0.05) and norepinephrine (1.5-fold, p LT 0.05) content in oxytocin treated animals compared to saline treated ones. Oxytocin treatment had no effect either on mRNA or protein level of TH and NET. Under oxytocin treatment the increase in VMAT2 mRNA level was not statistically significant, but it caused a significant increase in protein level of VMAT2 (3.7-fold, p LT 0.001). These findings indicate that oxytocin treatment increases catecholamine content in the rat adrenal medulla modulating VMAT2 expression. (C) 2013 Elsevier Inc. All rights reserved

The timing of death in acute pulmonary embolism patients regarding the mortality risk stratification at admission to the hospital

Background: The management of patients with acute pulmonary embolism (aPE) depends on the severity of aPE. The timing of death in various aPE risk subgroups is only partially known. Methods: 1618 patients with an objectively established aPE diagnosis with computed tomography pulmonary angiography enrolled in the regional PE registry were included in the study. According to ESC criteria, patients were stratified at admission to the hospital in four risk strata. The timing of PE-related and non-PE-related deaths was analyzed regarding mortality risk. Results: PE-related, and non-PE-related hospital death rates were 1.1 % and 1.5 % in low, 1.1 % and 4.8 % in intermediate-low, 8.1 % and 5.9 % in intermediate-high, and 27.7 % and 6.9 % in high-risk groups, respectively. The median time of PE-related and non-PE-related death across the PE mortality risk were: 4 (1.7–7.5) and 7.0 (4–14.7) days in low, 1.5 (1.0–9.5) and 11.5 (2.0–21.0) days in intermediate-low, 4.0 (2.0–9.0) and 9.0 (5.7–18.2) days in intermediate-high, 2.0 (1.0–4.75) and 7.0 (3.0–21.2) days in high-risk subgroups. 48.2 % and 17.1 % of patients who died in the high and intermediate-high risks died during the first hospital day. After the 6th hospitalization day, PE-related deaths were recorded in 43.9 % of deaths from intermediate-high and 17.9 % from high-risk subgroups. Conclusion: PE-related mortality is prominent on the first hospitalization day in high and intermediate-high-risk PE. A substantial proportion of intermediate-high and high-risk patient's PE deaths occurred after the first 6 days of hospitalization

European survey on laboratory preparedness, response and diagnostic capacity for crimean-congo haemorrhagic fever, 2012

Crimean-Congo haemorrhagic fever (CCHF) is an infectious viral disease that has (re-)emerged in the last decade in south-eastern Europe, and there is a risk for further geographical expansion to western Europe. Here we report the results of a survey covering 28 countries, conducted in 2012 among the member laboratories of the European Network for Diagnostics of 'Imported' Viral Diseases (ENIVD) to assess laboratory preparedness and response capacities for CCHF. The answers of 31 laboratories of the European region regarding CCHF case definition, training necessity, biosafety, quality assurance and diagnostic tests are presented. In addition, we identified the lack of a Regional Reference Expert Laboratory in or near endemic areas. Moreover, a comprehensive review of the biosafety level suitable to the reality of endemic areas is needed. These issues are challenges that should be addressed by European public health authorities. However, all respondent laboratories have suitable diagnostic capacities for the current situation