Processing of soot in an urban environment: case study from the Mexico City Metropolitan Area

Chemical composition, size, and mixing state of atmospheric particles are critical in determining their effects on the environment. There is growing evidence that soot aerosols play a particularly important role in both climate and human health, but still relatively little is known of their physical and chemical nature. In addition, the atmospheric residence times and removal mechanisms for soot are neither well understood nor adequately represented in regional and global climate models. To investigate the effect of locality and residence time on properties of soot and mixing state in a polluted urban environment, particles of diameter 0.2–2.0 μm were collected in the Mexico City Metropolitan Area (MCMA) during the MCMA-2003 Field Campaign from various sites within the city. Individual particle analysis by different electron microscopy methods coupled with energy dispersed x-ray spectroscopy, and secondary ionization mass spectrometry show that freshly-emitted soot particles become rapidly processed in the MCMA. Whereas fresh particulate emissions from mixed-traffic are almost entirely carbonaceous, consisting of soot aggregates with liquid coatings suggestive of unburned lubricating oil and water, ambient soot particles which have been processed for less than a few hours are heavily internally mixed, primarily with ammonium sulfate. Single particle analysis suggests that this mixing occurs through several mechanisms that require further investigation. In light of previously published results, the internally-mixed nature of processed soot particles is expected to affect heterogeneous chemistry on the soot surface, including interaction with water during wet-removal

De novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin

Background: Dravet syndrome is a severe infantile epileptic encephalopathy caused in approximately 80% of cases by mutations in the voltage gated sodium channel subunit gene SCN1A. The majority of these mutations are de novo. The parental origin of de novo mutations varies widely among genetic disorders and the aim of this study was to determine this for Dravet syndrome. Methods: 91 patients with de novo SCN1A mutations and their parents were genotyped for single nucleotide polymorphisms (SNPs) in the region surrounding their mutation. Allele specific polymerase chain reaction (PCR) based on informative SNPs was used to separately amplify and sequence the paternal and maternal alleles to determine in which parental chromosome the mutation arose. Results: The parental origin of SCN1A mutations was established in 44 patients for whom both parents were available and SNPs were informative. The mutations were of paternal origin in 33 cases and of maternal origin in the remaining 11 cases. De novo mutation of SCN1A most commonly, but not exclusively, originates from the paternal chromosome. The average age of parents originating mutations did not differ from that of the general population. Conclusions: The greater frequency of paternally derived mutations in SCN1A is likely to be due to the greater chance of mutational events during the increased number of mitoses which occur during spermatogenesis compared to oogenesis, and the greater susceptibility to mutagenesis of the methylated DNA characteristic of sperm cells.Sarah E. Heron, Ingrid E. Scheffer, Xenia Iona, Sameer M. Zuberi, Rachael Birch, Jacinta M. McMahon, Carla M. Bruce, Samuel F. Berkovic, John C. Mulle

Determination of Alpha-i Antitrypsin Genetic Deficiency in Duodenal Ulcer by Polymerase Chain Reaction

Objective: To confirm alpha-I-AT deficiency status in duodenal ulcer using a combination of PCR and restricted enzyme digestion. Methods: Fifty patients with endoscopically proven duodenal ulcer and hundred controls with no signs of the disease were included. Alpha-i-AT phenotypes were confirmed by polymerase chain reaction followed by restriction enzyme digestion. Results:Alpha-I-AT concentration in duodenal ulcer patients showed a mean value of 2.12 ± 0.11g/1 (range: 0.52-3.95 g/1, p Conclusion: Alpha-1 AT deficiency was found in 10% of duodenal ulcer patients. DNA analysis more accurately resolved the phenotypes as S and Z mutations (JPMA 52:545; 2002)

Measurements of Black Carbon Specific Absorption in the Mexico City Metropolitan Area during the MCMA 2003 Field Campaign

International audienceDuring the Mexico City Metropolitan Area (MCMA) field campaign of 2003, measurements of the shortwave radiation field, lidar backscatter, and atmospheric concentrations of black carbon (BC) permitted the inference of the BC carbon specific absorption, ??, defined as the absorption cross section per unit mass (with units of m2/g). This diverse set of measurements allowed us to determine ?? in two ways. These methods ? labeled I and II ? are distinguished from one another in the manner that the columnar concentration of BC (with units of mg/m2 is determined. This concentration is found by using either surface measurements of BC concentration and lidar estimates of aerosol mixing heights, or a more rigorous method that relies on the columnar aerosol size distribution. The averaged values of ?? derived from these methods agree to about 20%, although we expect that the values obtained from method I are underestimated. These results, along with those of Schuster et al. (2005), suggest that in the MCMA, ?? is in a range of 8 to 10 m2/g at a wavelength of 550 nm. This range is somewhat lower than the commonly accepted value of 10 m2/g for a wavelength of 550 nm, but is consistent with the calculations of Fuller et al. (1999), who suggest that this value is too high

Aerosol composition and source apportionment in the Mexico City Metropolitan Area with PIXE/PESA/STIM and multivariate analysis

International audienceAerosols play an important role in the atmosphere but are poorly characterized, particularly in urban areas like the Mexico City Metropolitan Area (MCMA). The chemical composition of urban particles must be known to assess their effects on the environment, and specific particulate emissions sources should be identified to establish effective pollution control standards. For these reasons, samples of particulate matter ?2.5 ?m (PM2.5) were collected during the MCMA-2003 Field Campaign for elemental and multivariate analyses. Proton-Induced X-ray Emission (PIXE), Proton-Elastic Scattering Analysis (PESA) and Scanning Transmission Ion Microscopy (STIM) measurements were done to determine concentrations of 19 elements from Na to Pb, hydrogen, and total mass, respectively. The most abundant elements from PIXE analysis were S, Si, K, Fe, Ca, and Al, while the major emissions sources associated with these elements were industry, wind-blown soil, and biomass burning. Wind trajectories suggest that metals associated with industrial emissions came from northern areas of the city whereas soil aerosols came from the southwest and increased in concentration during dry conditions. Elemental markers for fuel oil combustion, V and Ni, correlated with a large SO2 plume to suggest an anthropogenic, rather than volcanic, emissions source. By subtracting major components of soil and sulfates determined by PIXE analysis from STIM total mass measurements, we estimate that approximately 50% of non-volatile PM2.5 consisted of carbonaceous material

Endothelial C-type natriuretic peptide maintains vascular homeostasis

PMCID: PMC4151218Wellcome Trust (084449/Z/07/Z and 078496/Z/05/Z

SCN1A variants from bench to bedside-improved clinical prediction from functional characterization

Variants in the SCN1A gene are associated with a wide range of disorders including genetic epilepsy with febrile seizures plus (GEFS+), familial hemiplegic migraine (FHM), and the severe childhood epilepsy Dravet syndrome (DS). Predicting disease outcomes based on variant type remains challenging. Despite thousands of SCN1A variants being reported, only a minority has been functionally assessed. We review the functional SCN1A work performed to date, critically appraise electrophysiological measurements, compare this to in silico predictions, and relate our findings to the clinical phenotype. Our results show, regardless of the underlying phenotype, that conventional in silico software correctly predicted benign from pathogenic variants in nearly 90%, however was unable to differentiate within the disease spectrum (DS vs. GEFS+ vs. FHM). In contrast, patch‐clamp data from mammalian expression systems revealed functional differences among missense variants allowing discrimination between disease severities. Those presenting with milder phenotypes retained a degree of channel function measured as residual whole‐cell current, whereas those without any whole‐cell current were often associated with DS (p = .024). These findings demonstrate that electrophysiological data from mammalian expression systems can serve as useful disease biomarker when evaluating SCN1A variants, particularly in view of new and emerging treatment options in DS

GeneMANIA Cytoscape plugin: fast gene function predictions on the desktop

Summary: The GeneMANIA Cytoscape plugin brings fast gene function prediction capabilities to the desktop. GeneMANIA identifies the most related genes to a query gene set using a guilt-by-association approach. The plugin uses over 800 networks from six organisms and each related gene is traceable to the source network used to make the prediction. Users may add their own interaction networks and expression profile data to complement or override the default data