1,721,032 research outputs found
Studio della nutrizione in gravidanza nell'ambito del progetto "HUMAN-BB": impatto dell'alimentazione sulla salute mterno/neonatale in un campione di 800 gravide fisiologiche
No full textScientific evidences support the importance of an appropriate nutrition during pregnancy in promoting maternal and neonatal positive outcomes as well as in preventing gestational complications, such as hypertension, diabetes and fetal growth defects. According to “DOHaD hypothesis” (Developmental Origin of Health and Disease), the quantity and quality of nutrients assumed by the fetus during intra-uterine develoment could contribute in modulating the fetal metabolism, with long-term consequences on adult health.
The "HuMAN-BB" project was conceived to investigate the impact of maternal nutrition on neonatal outcomes, in particular on newborn epigenome setting, through the “EPIC-FFQ” questionnaire on one side and the analysis of maternal/placental biological samples and related clinical data, on the other side. As part of “HuMAN-BB” project, this thesis evaluates the adequacy of maternal nutrition, compared to current guidelines (SIGO 2018). In addition, maternal and neonatal clinical parameters, related to nutrition, will be investigated, such as maternal BMI, birth weight and placenta weight.
The investigated population includes 826 women, recruited between September 2016 and January 2019 at the "L. Mangiagalli" Clinic (Ca' Granda Foundation, Maggiore Policlinico Hospital). Inclusion criteria were European women; singleton spontaneous pregnancies, absence of neonatal malformations and/or fetal genetic anomalies.
At the time of delivery, biological samples were taken, and clinical data were collected by consulting maternal medical records. The EPIC questionnaires were collected before hospital discharge and subsequently analyzed through a dedicated software.
The main findings of this thesis are: 1) a slight excess in daily caloric intake has been observed (found in 64% of women), especially in fats consumption; 2) we confirmed the importance of dietary supplementation of folic acid, since the amount of this micronutrient introduced by the diet is not enough to support fetal requirements; 3) the amount of water and dietary fiber resulted significantly lower than those recommended. Finally, the evaluation of maternal clinical parameters highlighted the relationship between an increased pregestational BMI and an excessive weight gain during pregnancy, likely related to unhealthy dietary habits. So far as pregestational BMI, data suggest possible correlation with birth weight percentile, especially in newborns with growth defects. In this contest, the role of midwife is essential to support women during the pregnancy and to educate them about the importance of a healthy diet
Beckwith–Wiedemann and IMAGe syndromes : two very different diseases caused by mutations on the same gene
Full text linkGenomic imprinting is an epigenetically regulated mechanism leading to parental-origin allele-specific expression. Beckwith–Wiedemann syndrome (BWS) is an imprinting disease related to 11p15.5 genetic and epigenetic alterations, among them loss-of-function CDKN1C mutations. Intriguing is that CDKN1C gain-of-function variations were recently found in patients with IMAGe syndrome (intrauterine growth restriction, metaphyseal dysplasia, congenital adrenal hypoplasia, and genital anomalies). BWS and IMAGe share an imprinted mode of inheritance; familial analysis demonstrated the presence of the phenotype exclusively when the mutant CDKN1C allele is inherited from the mother. Interestingly, both IMAGe and BWS are characterized by growth disturbances, although with opposite clinical phenotypes; IMAGe patients display growth restriction whereas BWS patients display overgrowth. CDKN1C codifies for CDKN1C/KIP2, a nuclear protein and potent tight-binding inhibitor of several cyclin/Cdk complexes, playing a role in maintenance of the nonproliferative state of cells. The mirror phenotype of BWS and IMAGe can be, at least in part, explained by the effect of mutations on protein functions. All the IMAGe-associated mutations are clustered in the proliferating cell nuclear antigen-binding domain of CDKN1C and cause a dramatic increase in the stability of the protein, which probably results in a functional gain of growth inhibition properties. In contrast, BWS mutations are not clustered within a single domain, are loss-of-function, and promote cell proliferation. CDKN1C is an example of allelic heterogeneity associated with opposite syndromes
Only severe intrauterine growth restriction (IUGR) alters expression levels of low density lipoprotein receptor-related protein (LRP) and scavenger receptor class B type I (SR-BI)
No full textDetection of Loss of Imprinting by Pyrosequencing
No full textGenomic imprinting is an epigenetically regulated process determining allele-specific expression in a parent-of-origin dependent manner. Altered expression of imprinted genes characterizes numerous congenital diseases including Beckwith-Wiedemann, Silver-Russell, Angelman, and Prader-Willi syndromes as well as acquired disorders such as cancer. The detection of imprinting alterations has important translational implications in clinics and the application of the Pyrosequencing(®) technology offers the possibility to identify accurately also subtle modifications in allele-specific expression and in DNA methylation levels.Here, we describe two methods to investigate genomic imprinting defects (loss of imprinting, LOI) using Pyrosequencing: (1) Allele-specific expression analysis based on single nucleotide polymorphism (SNP), and (2) quantification of DNA methylation.The protocol for the quantification of the allele-specific expression is carried out by analyzing an informative SNP located within the transcribed portion of an imprinted gene. The method includes the cDNA amplification of the region containing the SNP and the Pyrosequencing-based analysis for the quantitative allelic discrimination comparing the ratio of the two alleles.The second protocol allows the accurate quantification of the DNA methylation levels at the Imprinting Control Regions (ICRs). Imprinted genes are clustered in chromosomal regions and their expression is mainly regulated by DNA methylation at CpG sites located within the ICRs. After bisulfite modification of the genomic DNA, the region of interest is amplified by PCR and analyzed by Pyrosequencing. The methylation value at each CpG site is calculated by the CpG software, which determines the ratio of the incorporation of "C" and "T" and converts the value in methylation percentage
Going Beyond Counting First Authors in Author Co-citation Analysis
Full text linkThe present study examines one of the fundamental aspects of author co-citation analysis (ACA) - the way co-citation
counts are defined. Co-citation counting provides the data on which all subsequent statistical analyses and mappings
are based, and we compare ACA results based on two different types of co-citation counting - the traditional type that
only counts the first one among a cited work's authors on the one hand and a non-traditional type that takes into
account the first 5 authors of a cited work on the other hand. Results indicate that the picture produced through this non-traditional author co-citation counting contains more coherent author groups and is therefore considerably clearer. However, this picture represents fewer specialties in the research field being studied than that produced through the traditional first-author co-citation counting when the same number of top-ranked authors is selected and analyzed. Reasons for these effects are discussed
Placental IGF2 expression in normal and intrauterine growth restricted (IUGR) pregnancies
No full textVariations on the Author
Full text link“Variations on the Author” discusses two of Eduardo Coutinho’s recent films (Um Dia na Vida, from 2010, and Últimas Conversas, posthumously released in 2015) and their contribution to the general question of documentary authorship. The director’s filmography is characterized by a consistent yet self-effacing form of authorial self-inscription: Coutinho often features as an interviewer that rather than express opinions propels discourses; an interviewer that is good at listening. This mode of self-inscription characterizes him as an author who is not expressive but who is nonetheless markedly present on the screen. In Um Dia na Vida, however, Coutinho is completely absent form the image, while Últimas Conversas, on the contrary, includes a confessional prologue that moves the director from the margins to the center of his films. This article examines the ways in which these works stand out in the filmography of a director who offers new insights into the notion of cinematic authorship
Gestational diabetes modifies scavenger receptor class B type I receptor (SR-BI) expression in human placental tissue
No full textAppropriate Similarity Measures for Author Cocitation Analysis
Full text linkWe provide a number of new insights into the methodological discussion about author cocitation analysis. We first argue that the use of the Pearson correlation for measuring the similarity between authors’ cocitation profiles is not very satisfactory. We then discuss what kind of similarity measures may be used as an alternative to the Pearson correlation. We consider three similarity measures in particular. One is the well-known cosine. The other two similarity measures have not been used before in the bibliometric literature. Finally, we show by means of an example that our findings have a high practical relevance.information science;Pearson correlation;cosine;similarity measure;author cocitation analysis
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