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Two lineages of Salmonella enterica serovar Typhimurium (S. Typhimurium) of multi-locus sequence type ST313 have been linked with the emergence of invasive Salmonella disease across sub-Saharan Africa. The expansion of these lineages has a temporal association with the HIV pandemic and antibiotic usage. We analysed the whole genome sequence of 129 ST313 isolates representative of the two lineages and found evidence of lineage-specific genome degradation, with some similarities to that observed in S. Typhi. Individual ST313 S. Typhimurium isolates exhibit a distinct metabolic signature and modified enteropathogenesis in both a murine and cattle model of colitis, compared to S. Typhimurium outside of the ST313 lineages. These data define phenotypes that distinguish ST313 isolates from other S. Typhimurium and may represent adaptation to a distinct pathogenesis and lifestyle linked to an-immuno-compromised human population.
The direct estimation of heritability from genome-wide common variant data as implemented in the program Genome-wide Complex Trait Analysis (GCTA) has provided a means to quantify heritability attributable to all interrogated variants. We have quantified the variance in liability to disease explained by all SNPs for two phenotypically-related neurobehavioral disorders, obsessive-compulsive disorder (OCD) and Tourette Syndrome (TS), using GCTA. Our analysis yielded a heritability point estimate of 0.58 (se = 0.09, p = 5.64e-12) for TS, and 0.37 (se = 0.07, p = 1.5e-07) for OCD. In addition, we conducted multiple genomic partitioning analyses to identify genomic elements that concentrate this heritability. We examined genomic architectures of TS and OCD by chromosome, MAF bin, and functional annotations. In addition, we assessed heritability for early onset and adult onset OCD. Among other notable results, we found that SNPs with a minor allele frequency of less than 5% accounted for 21% of the TS heritability and 0% of the OCD heritability. Additionally, we identified a significant contribution to TS and OCD heritability by variants significantly associated with gene expression in two regions of the brain (parietal cortex and cerebellum) for which we had available expression quantitative trait loci (eQTLs). Finally we analyzed the genetic correlation between TS and OCD, revealing a genetic correlation of 0.41 (se = 0.15, p = 0.002). These results are very close to previous heritability estimates for TS and OCD based on twin and family studies, suggesting that very little, if any, heritability is truly missing (i.e., unassayed) from TS and OCD GWAS studies of common variation. The results also indicate that there is some genetic overlap between these two phenotypically-related neuropsychiatric disorders, but suggest that the two disorders have distinct genetic architectures.
OpenSpaceAlps Planungshandbuch: Perspektiven für eine konsistente Freiraumsicherung im Alpenraum
(2022)
Im Alpenraum lässt sich nach wie vor die kontinuierliche Inanspruchnahme von Freiräumen für Siedlungsflächen und technische Infrastrukturen und die damit verbundene Bodenversiegelung beobachten. Dies führt in erster Linie zum Verlust von landwirtschaftlichen Flächen. Je nach Ausmaß der Bebauung kommt es auch zu einer verstärkten Landschaftszerschneidung, die zur Isolierung natürlicher Lebensräume und zur Einschränkung des ökologischen Verbundes sowie zu weiteren negativen Folgewirkungen führt. Das OpenSpaceAlps Projekt hat sich dieser Thematik angenommen und, basierend auf kooperativen Verfahren in mehreren Pilotregionen, Handlungsansätze und Strategien für eine nachhaltige Sicherung von Freiräumen entwickelt. Dieses Handbuch stellt eine Handlungs- und Entscheidungshilfe für verschiedene Akteure/Akteurinnen dar, allen voran Planer*innen in öffentlichen Planungsbehörden. Ausgehend von einer Analyse der Herausforderungen und Rahmenbedingungen im Alpenraum, werden in diesem Handbuch zentrale „Prinzipien“ der Freiraumplanung vorgestellt und verglichen. Außerdem werden integrierte Planungsstrategien für verschiedene Raumkategorien diskutiert.
Nella regione alpina, si può osservare il continuo consumo di spazi aperti a causa dell’aumento di aree di insediamento e di infrastrutture tecniche e la conseguente impermeabilizzazione del suolo. Questo fenomeno porta principalmente alla perdita di suolo agricolo. A seconda dell'estensione dello sviluppo, si riscontra anche una maggiore frammentazione del paesaggio, che è associata all'isolamento degli habitat naturali e alla perdita della connettività ecologica, così come ad altre conseguenze negative.
Il progetto OpenSpaceAlps ha affrontato questo problema e, sulla base di procedure cooperative partecipate attuate in diverse regioni pilota alpine, ha sviluppato approcci e strategie di soluzione per la salvaguardia sostenibile degli spazi aperti. Questo manuale supporta le attività e il processo decisionale di vari stakeholder, in primo luogo i pianificatori delle autorità pubbliche di pianificazione. Sulla base di un'analisi delle sfide e delle condizioni generali nella regione alpina, il manuale presenta e confronta i "principi" centrali della pianificazione degli spazi aperti. Inoltre, vengono discusse strategie di pianificazione integrata per diverse categorie spaziali.
Na območju Alp že dalj časa poteka preobrazba odprtega prostora zaradi gradnje in širjenja naselij ter tehnične infrastrukture. Navedeni procesi povzročajo zlasti izgubo kmetijskih zemljišč, stalno pokritje površine tal z nepropustnimi snovmi in razdrobljenost krajine. Razdrobljenost je odvisna od vrst posegov in stopnje pozidanosti prostora, poglavitna negativna učinka pa sta izolacija naravnih habitatov in slabšanje ekološke povezljivosti. Opisana problematika je bila glavna tema projekta OpenSpaceAlps, v katerem so bili ob sodelovanju z deležniki na več pilotnih območjih razviti pristopi in rešitve, ki omogočajo trajnostno ohranjanje odprtega prostora. Načrtovalski priročnik povzema del rezultatov projekta. Namenjen je različnim deležnikom, zlasti načrtovalcem v javnih službah, kot pripomoček pri izvajanju načrtovalskih nalog in odločanju. V priročniku so predstavljeni analiza izzivov in okvirnih pogojev v Alpah ter opis in primerjava poglavitnih načel načrtovanja odprtega prostora, obravnavane pa so tudi celostne načrtovalske strategije za različne kategorije prostora.
Analysis of structural brain asymmetries in attention‐deficit/hyperactivity disorder in 39 datasets
(2021)
Objective
Some studies have suggested alterations of structural brain asymmetry in attention‐deficit/hyperactivity disorder (ADHD), but findings have been contradictory and based on small samples. Here, we performed the largest ever analysis of brain left‐right asymmetry in ADHD, using 39 datasets of the ENIGMA consortium.
Methods
We analyzed asymmetry of subcortical and cerebral cortical structures in up to 1,933 people with ADHD and 1,829 unaffected controls. Asymmetry Indexes (AIs) were calculated per participant for each bilaterally paired measure, and linear mixed effects modeling was applied separately in children, adolescents, adults, and the total sample, to test exhaustively for potential associations of ADHD with structural brain asymmetries.
Results
There was no evidence for altered caudate nucleus asymmetry in ADHD, in contrast to prior literature. In children, there was less rightward asymmetry of the total hemispheric surface area compared to controls (t = 2.1, p = .04). Lower rightward asymmetry of medial orbitofrontal cortex surface area in ADHD (t = 2.7, p = .01) was similar to a recent finding for autism spectrum disorder. There were also some differences in cortical thickness asymmetry across age groups. In adults with ADHD, globus pallidus asymmetry was altered compared to those without ADHD. However, all effects were small (Cohen’s d from −0.18 to 0.18) and would not survive study‐wide correction for multiple testing.
Conclusion
Prior studies of altered structural brain asymmetry in ADHD were likely underpowered to detect the small effects reported here. Altered structural asymmetry is unlikely to provide a useful biomarker for ADHD, but may provide neurobiological insights into the trait.
In the Alpine region, the continuous consumption of open spaces for settlement areas and technical infrastructure and the associated soil sealing can be observed. This leads primarily to the loss of agricultural land. Depending on the extent of development, there is also increased landscape fragmentation, which is associated with the isolation of natural habitats and the restriction of ecological connectivity, as well as other negative consequences. The OpenSpaceAlps project has addressed this issue and, based on cooperative procedures in several pilot regions, has developed approaches and solution strategies for the sustainable safeguarding of open spaces. This handbook supports the activities and decision-making of various stakeholders, first and foremost planners in public planning authorities. Based on an analysis of the challenges and framework conditions in the Alpine region, the handbook presents and compares central "principles" of open space planning. Furthermore, integrated planning strategies for different spatial categories are discussed.