First-trimester screening for trisomies by cfDNA testing of maternal blood in singleton and twin pregnancies: factors affecting test failure.

Objectives: To examine factors affecting the failure rate to obtain a result from (cf) DNA testing of maternal blood for fetal trisomies 21, 18 and 13 in singleton and twin pregnancies in the first trimester of pregnancy. Methods: This was a prospective study in 23,495 singleton and 928 twin pregnancies undergoing screening for fetal trisomies by targeted cfDNA testing at 10+0-14+1 weeks’ gestation. Multivariate regression analysis was used to determine significant predictors of failure to obtain a result after first sampling. Results: There was no result from cfDNA testing after first sampling in 3.4% (798/23,495) of singletons, 11.3% (91/806) of DC twins and in 4.9% (6/122) of MC twins. Multivariate logistic regression analysis demonstrated that the risk of test failure first, increased with increasing maternal age (odds ratio (OR) 1.02; 95% confidence interval (CI) 1.01, 1.04) and weight (OR 1.05; 95% CI 1.04, 1.05), decreasing gestational age (OR 0.85; 95% CI 0.79, 0.91) and serum PAPP-A (OR 0.56; 95% CI 0.49, 0.64) and free ß-hCG (OR 0.67; 95% CI 0.60, 0.74), second, was higher in women of Black (OR 1.72; 95% CI 1.33, 2.20) and South Asian (OR 1.99; 95% CI 1.56, 2.52) than White racial origin, in dichorionic twin (OR 1.75; 95% CI 1.34, 2.25) than singleton pregnancy and in in vitro fertilization (OR 3.82; 95% CI 3.19, 4.55) than natural conception and third, was lower in parous (OR 0.63; 95% CI 0.55, 0.74) than nulliparous women. Conclusions: Maternal age, weight, racial origin and parity, gestational age, dichorionicity, method of conception and serum levels of free ß-hCG and PAPP-A are independent predictors of cfDNA test failure. The risk of test failure is higher in dichorionic twin than in singleton pregnancies, mainly because a higher proportion of twins are conceived by in vitro fertilization and more of the women are nulliparous.pre-print429 K

Screening for trisomies by cfDNA testing of maternal blood in twin pregnancy: update of the Fetal Medicine Foundation results and meta-analysis.

Objective: To report on the routine clinical implementation of cell-free (cf)DNA analysis of maternal blood for trisomies 21, 18 and 13 in twin pregnancies and to define the performance of the test by combining our results with those arising from systematic review of the literature. Methods: The data for the study were derived from prospective screening for trisomies 21, 18 and 13 in twin pregnancies at 10+0-14+1 weeks’ gestation. Two populations were included; first self-referred women to the Fetal Medicine Centre in London or Brugmann University Hospital in Brussels and second, women selected for the cfDNA test after routine first-trimester combined testing in one of two National Health Service hospitals in England. This dataset was used to determine the performance of screening for the three trisomies. Search of Medline, Embase, CENTRAL (The Cochrane Library), ClinicalTrials.gov and ICTRP (World Health Organization) was carried out to identify all peer-reviewed publications on clinical validation or implementation of maternal cfDNA testing for trisomies 21, 18 and 13 in twin pregnancies. Meta-analysis was then performed using our data and data from the studies identified by the literature search. Results: In our dataset of 997 twin pregnancies with a cfDNA result and known outcome, the test classified correctly 16 (94.1%) of the 17 cases of trisomy 21, 9 (90.0%) of 10 of trisomy 18, 1 (50.0%) of 2 of trisomy 13 and 963 (99.5%) of 968 cases without any of the three trisomies. The literature search identified 7 relevant studies, excluding our papers because their data are included in the current study. In the combined total of our study and the 7 studies identified by the literature search there were 56 trisomy 21 and 3,718 non-trisomy 21 twin pregnancies; the pooled weighted detection rate (DR) and false positive rate (FPR) were 98.2% (95% CI 83.2, 99.8%) and 0.05% (95% CI 0.01, 0.26%), respectively. In the combined total of 18 cases of trisomy 18 and 3,143 non-trisomy 18 pregnancies the pooled weighted DR and FPR were 88.9% (95% CI 64.8, 97.2%) and 0.03% (95% CI 0.00, 0.33%), respectively. For trisomy 13, there were only 3 affected cases and 2 (66.7%) of these were detected by the cfDNA test at FPR of 0.19% (5/2,569). Conclusions: Performance of cfDNA testing for trisomies 21 in twin pregnancies is similar to that reported for singleton pregnancies. The number of cases of trisomies 18 and 13 is too small for accurate assessment of predictive performance of the cfDNA test.pre-print445 K

Human transcriptome response after Mediterranean diet consumption

Trabajo presentado en el IV Congress of International Society of Nutrigenetics/Nutrigenomics ISNN, celebrado en Pamplona (España) del 18 al 20 de noviembre de 2010.[Introduction]: Despite the benefits associated with healthy diets, data on the mechanisms by which these benefits are promoted are scarce. Our aim was to explore the global transcriptomic response of biological pathways related to cardiovascular disease associated with traditional Mediterranean diet (TMD) intervention.[Methods]: The PREDIMED study is a large on-going, parallel, multicentre, randomized, controlled trial aimed at assessing the TMD effect on primary cardiovascular prevention. High cardiovascular risk participants were recruited and assigned to one of the following interventions: 1) TMD plus virgin olive oil (VOO); 2) TMD plus mixed nuts; or 3) low-fat diet (control group). In a sub sample of 30 volunteers of the PREDIMED-Barcelona Sur Centre, gene expression changes in peripheral mononuclear cells, after 3 months of intervention, were assessed by microarray analysis (Affymetrix) in which about 30,000 individual human genes were included. Crude and adjusted models for data analyses were performed separately in two different centres. Pearson´s correlation coefficients for log2ratio (post-intervention/pre-intervention value) and T-statistics were greater than 0.97. Gene ontology analyses were performed by Bioingenuity Software on genes with T-statistics ≥1.5 or ≥-1.5 after interventions.[Results]: Analyses of canonical pathways related with cardiovascular risk highlighted that: 1) MUFA versus PUFA rich diets (MUFA/PUFA ratio >3.5; TMD plus VOO and Low-fat) promoted changes in clusters of genes associated with cytokine and nuclear receptor signaling; and 2) TMD plus VOO promoted changes in blood pressure related pathways. In agreement with this, the greatest decrease in systolic and diastolic blood pressure levels were observed after TMD plus VOO diet.[Conclusions]: One of the mechanisms by which MUFA rich diets, and particularly a TMD rich in virgin olive oil, can exert their health benefits is through an enhancement of the global transcriptomic response in pathways related with cardiovascular risk

Alambique : didáctica de las ciencias experimentales

Resumen tomado de la publicaciónSe presentan unas reflexiones sobre una manera de considerar y de analizar las concepciones científicas de los estudiantes mediante el estudio de las argumentaciones de alumnos en clases de ciencias, que nos permite mejorar nuestra comprensión de estas concepciones y del porqué de su resistencia al cambio. A partir del conocimiento que obtenemos del estudio sobre los argumentos específicos que utilizan los estudiantes, proponemos estrategias didácticas para hacerlos evolucionar en sus ideas y concepciones científicas partiendo de sus propios argumentos.CataluñaUniversidad de Valladolid. Facultad de Educación y Trabajo Social. Biblioteca; Campus Miguel Delibes. Paseo de Belén, 1; 47011 Valladolid; +34983423435; +34983423436; [email protected]

New urban mobility options: Alternative futures and their impact in transport planning techniques

Trabajo presentado en: R-Evolucionando el transporte, XIV Congreso de Ingeniería del Transporte (CIT 2021), realizado en modalidad online los días 6, 7 y 8 de julio de 2021, organizado por la Universidad de BurgosThe acceleration of technology evolution is changing urban mobility at a much faster pace than we have seen in previous decades, leading to an increasingly uncertain future within this field. It is very likely that current transport planning tools and techniques will have to be adapted to the increasing number of innovative mobility forms in order to maintain their usefulness in the urban policy cycle. In this paper, we present a series of explorative scenarios for European urban mobility and the consequent challenges that they imply for such tools and techniques. Two groups of scenarios have been developed for assessing two different uncertain relations. First, a set of exogeneous scenarios has been defined for studying how different urban mobility socioeconomic contexts could affect the evolution of emerging mobility solutions. These scenarios are adaptations of the IPCC’s Shared Socioeconomic Pathways. Second, a set of pathways that these mobility innovations may follow has been shaped in order to determine to what extent each innovation will potentially pose new requirements on transport data sources, models and decision support tools. The methodology used for developing the scenarios started by a literature review covering the most prominent urban mobility trends. Then, policy-makers and modellers were engaged in the process through a series of workshops and a Delphi poll. This served to gather inputs from a wide range of end-users and practitioners. The paper covers the results from these methodologies, unveils the resultant scenarios, and outlines the conclusions in terms of future plausible requirements for transport planning tools and techniques.This research is supported by the European project MOMENTUM-Modelling Emerging Transport Solutions for Urban Mobility, funded from the European Union’s Horizon 2020 research and innovation programme, under Grant Agreement No 815069

Transcriptomics and the Mediterranean Diet: A Systematic Review

The Mediterranean diet has been proven to be highly effective in the prevention of cardiovascular diseases and cancer and in decreasing overall mortality. Nowadays, transcriptomics is gaining particular relevance due to the existence of non-coding RNAs capable of regulating many biological processes. The present work describes a systematic review of current evidence supporting the influence of the Mediterranean diet on transcriptomes of different tissues in various experimental models. While information on regulatory RNA is very limited, they seem to contribute to the effect. Special attention has been given to the oily matrix of virgin olive oil. In this regard, monounsaturated fatty acid-rich diets prevented the expression of inflammatory genes in different tissues, an action also observed after the administration of olive oil phenolic compounds. Among these, tyrosol, hydroxytyrosol, and secoiridoids have been found to be particularly effective in cell cycle expression. Less explored terpenes, such as oleanolic acid, are important modulators of circadian clock genes. The wide range of studied tissues and organisms indicate that response to these compounds is universal and poses an important level of complexity considering the different genes expressed in each tissue and the number of different tissues in an organism

Mononuclear cell transcriptome response after sustained virgin olive oil consumption in humans: an exploratory nutrigenomics study

Virgin olive oil (VOO) is considered to be one of the main components responsible for the health benefits of the Mediterranean diet, particularly against atherosclerosis where peripheral blood mononuclear cells (PBMNCs) play a crucial role in atherosclerosis development and progression. The objective of this article was to identify the PBMNC genes that respond to VOO consumption in order to ascertain the molecular mechanisms underlying the beneficial action of VOO in the prevention of atherosclerosis. Gene expression profiles of PBMNCs from healthy individuals were examined in pooled RNA samples by microarrays after 3 weeks of moderate and regular consumption of VOO, as the main fat source in a diet controlled for antioxidant content. Gene expression was verified by qPCR. The response to VOO consumption was confirmed for individual samples (n = 10) by qPCR for 10 upregulated genes (ADAM17, ALDH1A1, BIRC1, ERCC5, LIAS, OGT, PPARBP, TNFSF10, USP48, and XRCC5). Their putative role in the molecular mechanisms involved in atherosclerosis development and progression is discussed, focusing on a possible relation with VOO consumption. Our data support the hypothesis that 3 weeks of nutritional intervention with VOO supplementation, at doses common in the Mediterranean diet, can alter the expression of genes related to atherosclerosis development and progression.The CNS Contract CP06/00100 (Montserrat Fitó) is acknowledged. This work has been supported by CICYT (SAF 2004-08173-C03-00) and partially supported by the Generalitat of Catalunya (2005 SGR 0057)

Effect of a traditional Mediterranean diet on apolipoproteins B, A-I, and their ratio: A randomized, controlled trial

Objectives: Apolipoprotein (Apo)B, ApoA-I, and their ratio could predict coronary heart disease (CHD) risk more accurately than conventional lipid measurements. Our aim was to assess the effect of a traditional Mediterranean diet (TMD) on apolipoproteins. Methods: High-cardiovascular risk subjects (n=551, 308 women and 243 men), aged 55-80 years, were recruited into a large, multicenter, randomized, controlled, parallel-group, clinical trial (The PREDIMED Study) aimed at testing the efficacy of TMD on primary cardiovascular disease prevention. Participants assigned to a low-fat diet (control) (n=177), or TMDs (TMD. +. virgin olive oil (VOO), n=181 or TMD. +. nuts, n=193) received nutritional education and either free VOO (ad libitum) or nuts (dose: 30. g/day). A 3-month evaluation was performed. Results: Both TMDs promoted beneficial changes on classical cardiovascular risk factors. ApoA-I increased, and ApoB and ApoB/ApoA-I ratio decreased after TMD. +. VOO, the changes promoting a lower cardiometabolic risk. Changes in TMD. +. VOO versus low-fat diet were -2.9. mg/dL (95% CI, -5.6 to -0.08), 3.3. mg/dL (95% CI, 0.84 to 5.8), and -0.03. mg/dL (-0.05 to -0.01) for ApoB, ApoA-I, and ApoB/ApoA-I ratio, respectively. Conclusions: Individuals at high-cardiovascular risk who improved their diet toward a TMD pattern rich in virgin olive oil, reduced their Apo B and ApoB/ApoA-I ratio and improved ApoA-I concentrations. © 2011 Elsevier Ireland Ltd.This work was supported by the Fondo Europeo de Desarrollo Regional (FEDER), by the Centro Nacional de Investigaciones Cardiovasculares (CNIC-06), and by the contract Miguel Servet (CP06/00100) from Instituto de Salud Carlos III.Peer Reviewe