Impact of NOx and NH3 Emission Reduction on Particulate Matter across Po Valley: A LIFE-IP-PREPAIR Study

Air quality in Europe continues to remain poor in many areas, with regulation limits often exceeded by many countries. The EU Life-IP PREPAIR Project, involving administrations and environmental protection agencies of eight regions and three municipalities in Northern Italy and Slovenia, was designed to support the implementation of the regional air quality plans in the Po Valley, one of the most critical areas in Europe in terms of pollution levels. In this study, four air quality modelling systems, based on three chemical transport models (CHIMERE, FARM and CAMx) were applied over the Po Valley to assess the sensitivity of PM2.5 concentrations to NOx and NH3 emission reductions. These two precursors were reduced (individually and simultaneously) from 25% up to 75% for a total of 10 scenarios, aimed at identifying the most efficient emission reduction strategies and to assess the non-linear response of PM2.5 concentrations to precursor changes. The multi-model analysis shows that reductions across multiple emission sectors are necessary to achieve optimal results. In addition, the analysis of non-linearities revealed that during the cold season, the efficiency of PM2.5 abatement tends to increase by increasing the emission reductions, while during summertime, the same efficiency remains almost constant, or slightly decreases towards higher reduction strengths. Since the concentrations of PM2.5 are greater in winter than in summer, it is reasonable to infer that significant emission reductions should be planned to maximise reduction effectiveness

IL32 downregulation lowers triglycerides and type I collagen in di-lineage human primary liver organoids

Steatotic liver disease (SLD) prevails as the most common chronic liver disease yet lack approved treatments due to incomplete understanding of pathogenesis. Recently, elevated hepatic and circulating interleukin 32 (IL -32) levels were found in individuals with severe SLD. However, the mechanistic link between IL -32 and intracellular triglyceride metabolism remains to be elucidated. We demonstrate in vitro that incubation with IL -32b protein leads to an increase in intracellular triglyceride synthesis, while downregulation of IL32 by small interfering RNA leads to lower triglyceride synthesis and secretion in organoids from human primary hepatocytes. This reduction requires the upregulation of Phospholipase A2 group IIA (PLA2G2A). Furthermore, downregulation of IL32 results in lower intracellular type I collagen levels in di -lineage human primary hepatic organoids. Finally, we identify a genetic variant of IL32 (rs76580947) associated with lower circulating IL -32 and protection against SLD measured by non-invasive tests. These data suggest that IL32 downregulation may be beneficial against SLD

Case Report Recombinant Chromosome 4 from a Familial Pericentric Inversion: Prenatal and Adulthood Wolf-Hirschhorn Phenotypes

Pericentric inversion of chromosome 4 can give rise to recombinant chromosomes by duplication or deletion of 4p. We report on a familial case of Wolf-Hirschhorn Syndrome characterized by GTG-banding karyotypes, FISH, and array CGH analysis, caused by a recombinant chromosome 4 with terminal 4p16.3 deletion and terminal 4q35.2 duplication. This is an aneusomy due to a recombination which occurred during the meiosis of heterozygote carrier of cryptic pericentric inversion. We also describe the adulthood and prenatal phenotypes associated with the recombinant chromosome 4

Longitudinal Tracking of Human Fetal Cells Labeled with Super Paramagnetic Iron Oxide Nanoparticles in the Brain of Mice with Motor Neuron Disease

Stem Cell (SC) therapy is one of the most promising approaches for the treatment of Amyotrophic Lateral Sclerosis (ALS). Here we employed Super Paramagnetic Iron Oxide nanoparticles (SPIOn) and Hoechst 33258 to track human Amniotic Fluid Cells (hAFCs) after transplantation in the lateral ventricles of wobbler (a murine model of ALS) and healthy mice. By in vitro, in vivo and ex vivo approaches we found that: 1) the main physical parameters of SPIOn were maintained over time; 2) hAFCs efficiently internalized SPIOn into the cytoplasm while Hoechst 33258 labeled nuclei; 3) SPIOn internalization did not alter survival, cell cycle, proliferation, metabolism and phenotype of hAFCs; 4) after transplantation hAFCs rapidly spread to the whole ventricular system, but did not migrate into the brain parenchyma; 5) hAFCs survived for a long time in the ventricles of both wobbler and healthy mice; 6) the transplantation of double-labeled hAFCs did not influence mice survival

Recombinant Chromosome 4 from a Familial Pericentric Inversion: Prenatal and Adulthood Wolf-Hirschhorn Phenotypes

Pericentric inversion of chromosome 4 can give rise to recombinant chromosomes by duplication or deletion of 4p. We report on a familial case of Wolf-Hirschhorn Syndrome characterized by GTG-banding karyotypes, FISH, and array CGH analysis, caused by a recombinant chromosome 4 with terminal 4p16.3 deletion and terminal 4q35.2 duplication. This is an aneusomy due to a recombination which occurred during the meiosis of heterozygote carrier of cryptic pericentric inversion. We also describe the adulthood and prenatal phenotypes associated with the recombinant chromosome 4

Liver Involvement in Patients with Rare <i>MBOAT7</i> Variants and Intellectual Disability: A Case Report and Literature Review

The membrane-bound O-acyltransferase domain-containing 7 (MBOAT7) protein is an acyltransferase catalyzing arachidonic acid incorporation into lysophosphatidylinositol. Patients with rare, biallelic loss-of-function variants of the MBOAT7 gene display intellectual disability with neurodevelopmental defects. The rs641738 inherited variant associated with reduced hepatic MBOAT7 expression has been linked to steatotic liver disease susceptibility. However, the impact of biallelic loss-of-function MBOAT7 variants on liver disease is not known. We report on a 2-year-old girl with MBOAT7-related intellectual disability and steatotic liver disease, confirming that MBOAT7 loss-of-function predisposes to liver disease

Application of a new molecular technique for the genetic evaluation of products of conception

Objectives: Karyotyping is a well-established method of investigating the genetic content of product of conceptions (POCs). Because of the high rate of culture failure and maternal cell contamination, failed results or 46,XX findings are often obtained. Different molecular approaches that are not culture dependent have been proposed to circumvent these limits. On the basis of the robust experience previously obtained with bacterial artificial chromosomes (BACs)-on-Beads™ (BoBs™), we evaluated the same technology that we had used for the analysis of prenatal samples on POCs. Method: KaryoLite™ BoBs™ includes 91 beads, each of which is conjugated with a composite of multiple neighboring BACs according to the hg19 assembly. It quantifies proximal and terminal regions of each chromosome arm. The study included 376 samples. Results: The failure rate was 2%, and reproducibility >99%; false-positive and false-negative rates wer

Fetoplacental mosaicism: potential implications for false-positive and false-negative noninvasive prenatal screening results

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