THE RAISE OF NEURODEVELOPMENTAL DISORDERS (NDS): FROM GENETICS TO EPIGENETICS

NDs are a collection of disorders that appear in the early stages of development and are variously associated with cognitive an d behavioral dysfunctions. The strong heritability of these conditions (in particular autism and schizophrenia) argues in favor o f a genetic origin. On the other hand, the massive increase in NDs implies a preponderant role of environmental factors and epigene tic mechanism (Panisi et al. 2021)

Repensar la agencia del diseño durante (y después de) la covid-19

"Actuar en la emergencia" no significa abandonar las largas líneas de fondo que se han construido en el dise.o y en su pensamiento durante las .ltimas décadas porque ahora haya que proceder con rapidez. El resultado solo sería efectivo, influyente y perdurable si se actúa con una conciencia compleja y dotada de amplia perspectiva. Los artículos que siguen a continuación son una potente muestra de esta voluntad

Sorveglianza sanitaria su un gruppo di lavoratori esposti a vibrazioni mano-braccio

Nei lavoratori esposti a rischio da vibrazioni mano-braccio è indispensabile un’efficace sorveglianza sanitaria in linea con la recente normativa in materia, a garanzia della salute e della sicurezza nei luoghi di lavoro. In particolare abbiamo esaminato un gruppo di soggetti addetti alla manutenzione di aree verdi applicando le linee guida più recenti e la vigente normativa in tema di prevenzione(1,3) .As concerns those workers exposed to a risk of hand-arm vibration, an efficacious sanitary monitoring is necessary, according to recent norms, in order to assure health and secu - rity in workplaces. We have examined a group of people assigned to the maintenance of green spaces, applying the most recent guideli - nes and norms related to prevention policies

Cardiopatie professionali da agenti chimici.

Le cardiopatie da esposizione a sostanze chimiche hanno in passato suscitato un interesse secondario in confronto ad altre patologie più specificatamente correlate a noxae lavorative e caratterizzate da quadri clinici e fisiopatologici patognomonici per tecnopatia. Proprio la specificità di tali forme le ha rese di difficile diagnosi quando sganciate dal contesto eziologico lavorativo. Inoltre negli ambienti di lavoro a rischio chimico si verificano spesso situazioni di esposizione a molteplici sostanze, i cui effetti sulla salute a lungo termine sono di difficile interpretazione, visto il miglioramento complessivo delle condizioni di lavoro nei paesi occidentali e l’osservanza dei valori limite di esposizione imposti dalla normativa vigente in materia. si aggiunga poi l’effetto non trascurabile dei cosiddetti fattori di confondimento, come le abitudini voluttuarie (fumo, alcol) o l’ipercolesterolelmia o l’obesità o l’impiego di farmaci singolarmente ed in associazione, o la presenza di cardiopatie preesistenti. Da quanto sopra detto, ne consegue l’importanza della sorveglianza sanitaria nei lavoratori esposti a rischio chimico, come strumento indispensabile nella prevenzione delle malattie professionali. A tal proposito il nostro studio si è rivolto in particolare alla individuazione di eventuali effetti cardiolesivi precoci e tardivi attraverso un protocollo clinico e di esami di laboratorio specific

Prenatal Environmental Stressors and DNA Methylation Levels in Placenta and Peripheral Tissues of Mothers and Neonates Evaluated by Applying Artificial Neural Networks

Exposure to environmental stressors during pregnancy plays an important role in influencing subsequent susceptibility to certain chronic diseases through the modulation of epigenetic mechanisms, including DNA methylation. Our aim was to explore the connections between environmental exposures during gestation with DNA methylation of placental cells, maternal and neonatal buccal cells by applying artificial neural networks (ANNs). A total of 28 mother-infant pairs were enrolled. Data on gestational exposure to adverse environmental factors and on mother health status were collected through the administration of a questionnaire. DNA methylation analyses at both gene-specific and global level were analyzed in placentas, maternal and neonatal buccal cells. In the placenta, the concentrations of various metals and dioxins were also analyzed. Analysis of ANNs revealed that suboptimal birth weight is associated with placental H19 methylation, maternal stress during pregnancy with methylation levels of NR3C1 and BDNF in placentas and mother's buccal DNA, respectively, and exposure to air pollutants with maternal MGMT methylation. Associations were also observed between placental concentrations of lead, chromium, cadmium and mercury with methylation levels of OXTR in placentas, HSD11B2 in maternal buccal cells and placentas, MECP2 in neonatal buccal cells, and MTHFR in maternal buccal cells. Furthermore, dioxin concentrations were associated with placental RELN, neonatal HSD11B2 and maternal H19 gene methylation levels. Current results suggest that exposure of pregnant women to environmental stressors during pregnancy could induce aberrant methylation levels in genes linked to several pathways important for embryogenesis in both the placenta, potentially affecting foetal development, and in the peripheral tissues of mothers and infants, potentially providing peripheral biomarkers of environmental exposure

Current Knowledge on Endocrine Disrupting Chemicals (EDCs) from Animal Biology to Humans, from Pregnancy to Adulthood: Highlights from a National Italian Meeting

Wildlife has often presented and suggested the effects of endocrine disrupting chemicals (EDCs). Animal studies have given us an important opportunity to understand the mechanisms of action of many chemicals on the endocrine system and on neurodevelopment and behaviour, and to evaluate the effects of doses, time and duration of exposure. Although results are sometimes conflicting because of confounding factors, epidemiological studies in humans suggest effects of EDCs on prenatal growth, thyroid function, glucose metabolism and obesity, puberty, fertility, and on carcinogenesis mainly through epigenetic mechanisms. This manuscript reviews the reports of a multidisciplinary national meeting on this topic

THE RAISE OF NEURODEVELOPMENTAL DISORDERS (NDS): FROM GENETICS TO EPIGENETICS

NDs are a collection of disorders that appear in the early stages of development and are variously associated with cognitive an d behavioral dysfunctions. The strong heritability of these conditions (in particular autism and schizophrenia) argues in favor o f a genetic origin. On the other hand, the massive increase in NDs implies a preponderant role of environmental factors and epigene tic mechanism (Panisi et al. 2021)

Environment and fetal programming: the origins of some current “pandemics”

It has been well known for many years that prenatal life is not fully protected in the uterine microenvironment. But only over the last decade we have been focusing on mechanisms and modalities of maternal and foetal exposure to an impressive range of chemicals (e.g.: endocrine disruptors), physical factors (e.g.: ionizing radiations) and biological agents (e.g.: viruses) able to induce potentially adaptive and predictive epigenetic changes in the embryo-fetal genome, thus interfering with the programming of tissues and organs in an often irreversible way. Sometimes these epigenetic marks could be even inherited from one generation to another. This new awareness could radically transform the representation of the individual development (ontogeny) and of the evolution of our species (phylogeny). This model of pathogenesis is the so-called theory of the embryo-foetal origins of adult diseases (DOHAD: Developmental Origins of Health and Diseases). This new paradigm is important not only to explain in a more exhaustive  way the embryo-foetal origins of all the above mentioned disorders and  their dramatic increase over the last decades, but also to try to effectively face this epidemiological transition. The key-term in this context is certainly primary prevention: only by reducing the maternal-foetal factors of distress and the exposure of the foetus (and of its gametes) to pollutants,  it would be possible to protect the  correct programming of  cells, tissues and organs.   Proceedings of the 11th International Workshop on Neonatology and Satellite Meetings · Cagliari (Italy) · October 26th-31st, 2015 · From the womb to the adult Guest Editors: Vassilios Fanos (Cagliari, Italy), Michele Mussap (Genoa, Italy), Antonio Del Vecchio (Bari, Italy), Bo Sun (Shanghai, China), Dorret I. Boomsma (Amsterdam, the Netherlands), Gavino Faa (Cagliari, Italy), Antonio Giordano (Philadelphia, USA

Towards a systemic paradigm in carcinogenesis: linking epigenetics and genetics

For at least 30 years cancer has been defined as a genetic disease and explained by the so-called somatic mutation theory (SMT), which has dominated the carcinogenesis field. Criticism of the SMT has recently greatly increased, although still not enough to force all SMT supporters to recognize its limits. Various researchers point out that cancer appears to be a complex process concerning a whole tissue; and that genomic mutations, although variably deleterious and unpredictably important in determining the establishment of the neoplastic phenotype, are not the primary origin for a malignant neoplasia. We attempt to describe the inadequacies of the SMT and demonstrate that epigenetics is a more logical cause of carcinogenesis. Many previous models of carcinogenesis fall into two classes: (i) in which some biological changes inside cells alone lead to malignancy; and (ii) requiring changes in stroma/extracellular matrix. We try to make clear that in the (ii) model genomic instability is induced by persistent signals coming from the microenvironment, provoking epigenetic and genetic modifications in tissue stem cells that can lead to cancer. In this perspective, stochastic mutations of DNA are a critical by-product rather then the primary cause of cancer. Indirect support for such model of carcinogenesis comes from the in vitro and vivo experiments showing apparent 'reversion' of cancer phenotypes obtained via physiological factors of cellular differentiation (cytokines and other signaling molecules) or drugs, even if the key mutations are not 'reversed'