Effects of eight neuropsychiatric copy number variants on human brain structure

peer reviewedMany copy number variants (CNVs) confer risk for the same range of neurodevelopmental symptoms and psychiatric conditions including autism and schizophrenia. Yet, to date neuroimaging studies have typically been carried out one mutation at a time, showing that CNVs have large effects on brain anatomy. Here, we aimed to characterize and quantify the distinct brain morphometry effects and latent dimensions across 8 neuropsychiatric CNVs. We analyzed T1-weighted MRI data from clinically and non-clinically ascertained CNV carriers (deletion/duplication) at the 1q21.1 (n = 39/28), 16p11.2 (n = 87/78), 22q11.2 (n = 75/30), and 15q11.2 (n = 72/76) loci as well as 1296 non-carriers (controls). Case-control contrasts of all examined genomic loci demonstrated effects on brain anatomy, with deletions and duplications showing mirror effects at the global and regional levels. Although CNVs mainly showed distinct brain patterns, principal component analysis (PCA) loaded subsets of CNVs on two latent brain dimensions, which explained 32 and 29% of the variance of the 8 Cohen’s d maps. The cingulate gyrus, insula, supplementary motor cortex, and cerebellum were identified by PCA and multi-view pattern learning as top regions contributing to latent dimension shared across subsets of CNVs. The large proportion of distinct CNV effects on brain morphology may explain the small neuroimaging effect sizes reported in polygenic psychiatric conditions. Nevertheless, latent gene brain morphology dimensions will help subgroup the rapidly expanding landscape of neuropsychiatric variants and dissect the heterogeneity of idiopathic conditions. © 2021, The Author(s)

Effects of eight neuropsychiatric copy number variants on human brain structure

Many copy number variants (CNVs) confer risk for the same range of neurodevelopmental symptoms and psychiatric conditions including autism and schizophrenia. Yet, to date neuroimaging studies have typically been carried out one mutation at a time, showing that CNVs have large effects on brain anatomy. Here, we aimed to characterize and quantify the distinct brain morphometry effects and latent dimensions across 8 neuropsychiatric CNVs. We analyzed T1-weighted MRI data from clinically and non-clinically ascertained CNV carriers (deletion/duplication) at the 1q21.1 (n = 39/28), 16p11.2 (n = 87/78), 22q11.2 (n = 75/30), and 15q11.2 (n = 72/76) loci as well as 1296 non-carriers (controls). Case-control contrasts of all examined genomic loci demonstrated effects on brain anatomy, with deletions and duplications showing mirror effects at the global and regional levels. Although CNVs mainly showed distinct brain patterns, principal component analysis (PCA) loaded subsets of CNVs on two latent brain dimensions, which explained 32 and 29% of the variance of the 8 Cohen’s d maps. The cingulate gyrus, insula, supplementary motor cortex, and cerebellum were identified by PCA and multi-view pattern learning as top regions contributing to latent dimension shared across subsets of CNVs. The large proportion of distinct CNV effects on brain morphology may explain the small neuroimaging effect sizes reported in polygenic psychiatric conditions. Nevertheless, latent gene brain morphology dimensions will help subgroup the rapidly expanding landscape of neuropsychiatric variants and dissect the heterogeneity of idiopathic conditions

Parametric modeling of Life Cycle Assessment for district heating infrastructure: a comparison of pipe typologies in France

This study aims to put into perspective the environmental profile of subsystems composing a district heating infrastructure and to compare tube typologies that can be used to guide decision-making in eco-design processing. A parametric life-cycle assessment was conducted to determine the environmental impacts of each subsystem (pipes, heat carrier fluid, trenches, heat exchangers, valves, and water pumps) and sized on a study case in Marseille, France. Rigid piping systems and flexible ones were compared separately. The results show that the main source of impact is the pipes subsystem and that the choice of tube typology can cut by up to 80% for rigid and 77% for flexible systems of the total impact

Expérimentation de rafraîchissement de l’espace public en période caniculaire à Paris

International audienceIlot de chaleur urbain, adaptation au changement climatique, arrosage de l'espace public, confort thermique du piéton RESUME L'arrosage de l'espace public, couramment pratiqué du XIX e siècle jusqu'à la moitié du XX e siècle à Paris pour limiter les nuages de poussière connait un regain d'intérêt pour ses propriétés rafraîchissantes. Alors que les prévisions climatiques annoncent une augmentation en fréquence et en intensité des canicules en France, notamment en région parisienne, la méthode est perçue comme une mesure d'adaptation potentielle pour les milieux urbains denses. La Ville de Paris a conduit une expérimentation en 2013 pour continuer à étudier les effets de cette méthode, notamment thermiques et microclimatiques. L'analyse des mesures a montré des réductions de température de la chaussée pouvant atteindre 15°C à la surface ou 9°C à 5 cm de profondeur. Par ailleurs, l'absorption de chaleur par la chaussée à 5 cm de profondeur est réduite de plus de la moitié par l'arrosage. Enfin, les effets microclimatiques se soldent par un rafraîchissement statistiquement significatif, caractérisé par une réduction de température pouvant atteindre 0,7°C pour l'air et 1,8°C pour la température moyenne de rayonnement, en contrepartie d'une augmentation de l'humidité relative de moins de 3,7%HR. ABSTRACT Pavement-watering was used in Paris from the 19 th Century until the mid-20 th Century against dust clouds. Today, its expected cooling properties are of growing interest. As climate change forecasts indicate increasing heat wave frequency and intensity for France and the Paris region, the method is viewed as a potential adaptation tool for dense urban areas. Paris City Hall conducted a pavement-watering experiment in 2013 to continue to study its thermal and micro-climatic effects. Results show pavement temperature reductions of up to 15°C at the surface and 9°C at a depth of 5 cm. In addition, it was found that the heat absorption flux 5 cm deep in the pavement was more than halved during watering. Finally, the micro-climatic effects are found to result in statistically significant cooling, with up to 0.7°C and 1.8°C reductions in air and mean radiant temperatures, while relative humidity is increased by up to 3.7%RH

Expérimentation de rafraîchissement de l’espace public en période caniculaire à Paris

International audienceIlot de chaleur urbain, adaptation au changement climatique, arrosage de l'espace public, confort thermique du piéton RESUME L'arrosage de l'espace public, couramment pratiqué du XIX e siècle jusqu'à la moitié du XX e siècle à Paris pour limiter les nuages de poussière connait un regain d'intérêt pour ses propriétés rafraîchissantes. Alors que les prévisions climatiques annoncent une augmentation en fréquence et en intensité des canicules en France, notamment en région parisienne, la méthode est perçue comme une mesure d'adaptation potentielle pour les milieux urbains denses. La Ville de Paris a conduit une expérimentation en 2013 pour continuer à étudier les effets de cette méthode, notamment thermiques et microclimatiques. L'analyse des mesures a montré des réductions de température de la chaussée pouvant atteindre 15°C à la surface ou 9°C à 5 cm de profondeur. Par ailleurs, l'absorption de chaleur par la chaussée à 5 cm de profondeur est réduite de plus de la moitié par l'arrosage. Enfin, les effets microclimatiques se soldent par un rafraîchissement statistiquement significatif, caractérisé par une réduction de température pouvant atteindre 0,7°C pour l'air et 1,8°C pour la température moyenne de rayonnement, en contrepartie d'une augmentation de l'humidité relative de moins de 3,7%HR. ABSTRACT Pavement-watering was used in Paris from the 19 th Century until the mid-20 th Century against dust clouds. Today, its expected cooling properties are of growing interest. As climate change forecasts indicate increasing heat wave frequency and intensity for France and the Paris region, the method is viewed as a potential adaptation tool for dense urban areas. Paris City Hall conducted a pavement-watering experiment in 2013 to continue to study its thermal and micro-climatic effects. Results show pavement temperature reductions of up to 15°C at the surface and 9°C at a depth of 5 cm. In addition, it was found that the heat absorption flux 5 cm deep in the pavement was more than halved during watering. Finally, the micro-climatic effects are found to result in statistically significant cooling, with up to 0.7°C and 1.8°C reductions in air and mean radiant temperatures, while relative humidity is increased by up to 3.7%RH

Canicule à Paris et changement climatique : approche pluridisciplinaire de la vulnérabilité et de l’adaptation

International audienc

When adaptation increases energy demand: a systematic map of the literature

Adaptation is now a central component of climate policy, helping manage and reduce risks. Sometimes, however, adaptation to climate change may consume energy, threatening efforts to reduce greenhouse gas emissions. Examples are numerous, and include the use of air conditioning or water desalination. Nevertheless, so far, no clear view exists on how energy demand, globally, can be impacted by climate change: the information is scattered. Here, we systematically map the evidence on how and to what extent adaptation responses to climate change may impact energy demand. The literature is large, fast-growing and spans several disciplines, but we identify several research gaps. The literature focuses heavily on a few world regions, and on heating and cooling demand, while overlooking other potential sectors. Only a handful of papers -- most of them with a specific geographical scope -- consider that different adaptation possibilities may lead to different impacts on energy demand, which is an important prerequisite if the impact of adaptation on energy demand is to be lowered and maladaptation to be prevented. These papers study for the most part similar options, and most adaptation possibilities are conversely studied by just one or two papers