3-D model simulations of dynamical and microphysical interactions in pyroconvective clouds under idealized conditions

Abstract. Dynamical and microphysical processes in pyroconvective clouds in mid-latitude conditions are investigated using idealized three-dimensional simulations with the Active Tracer High resolution Atmospheric Model (ATHAM). A state-of-the-art two-moment microphysical scheme building upon a realistic parameterization of cloud condensation nuclei (CCN) activation has been implemented in order to study the influence of aerosol concentration on cloud development. The results show that aerosol concentration influences the formation of precipitation. For low aerosol concentrations (NCN = 200 cm−3), rain droplets are rapidly formed by autoconversion of cloud droplets. This also triggers the formation of large graupel and hail particles, resulting in an early onset of precipitation. With increasing aerosol concentration (NCN = 1000 cm−3 and NCN = 20 000 cm−3) the formation of rain droplets is delayed due to more but smaller cloud droplets. Therefore, the formation of ice crystals and snowflakes becomes more important for the eventual formation of graupel and hail, which is delayed at higher aerosol concentrations. This results in a delay of the onset of precipitation and a reduction of its intensity with increasing aerosol concentration. This study is the first detailed investigation of the interaction between cloud microphysics and the dynamics of a pyroconvective cloud using the combination of a high-resolution atmospheric model and a detailed microphysical scheme. This work has been supported by an International Max Planck Research School fellowship and the Max Planck Society.This is the final published version. It first appeared at http://www.atmos-chem-phys.net/14/7573/2014/acp-14-7573-2014.html

Genome-wide expression profiling of urinary bladder implicates desmosomal and cytoskeletal dysregulation in the bladder exstrophy-epispadias complex

The bladder exstrophy-epispadias complex (BEEC) represents a spectrum of urological abnormalities where part, or all, of the distal urinary tract fails to close during development, becoming exposed on the outer abdominal wall. While the etiology of BEEC remains unknown, strong evidence exists that genetic factors are implicated. To understand the pathways regulating embryonic bladder development and to identify high-probability BEEC candidate genes, we conducted a genome-wide expression profiling (GWEP) study using normal and exstrophic human urinary bladders and human and mouse embryologic bladder-precursor tissues. We identified 162 genes differentially expressed in both embryonic and postnatal human samples. Pathway analysis of these genes revealed 11 biological networks with top functions related to skeletal and muscular system development, cellular assembly and development, organ morphology, or connective tissue disorders. The two most down-regulated genes desmin (DES, fold-change, -74.7) and desmuslin (DMN, fold-change, -53.0) are involved in desmosome mediated cell-cell adhesion and cytoskeletal architecture. Intriguingly, the sixth most overexpressed gene was desmoplakin (DSP, fold-change, +48.8), the most abundant desmosomal protein. We found 30% of the candidate genes to be directly associated with desmosome structure/function or cytoskeletal assembly, pointing to desmosomal and/or cytoskeletal deregulation as an etiologic factor for BEEC. Further findings indicate that p63, PERP, SYNPO2 and the Wnt pathway may also contribute to BEEC etiology. This study provides the first expression profile of urogenital genes during bladder development and points to the high-probability candidate genes for BEEC

Isolated bladder exstrophy associated with a de novo 0.9 Mb microduplication on chromosome 19p13.12.

The exstrophy-epispadias complex (BEEC) is a urogenital birth defect of varying severity. The causes of the BEEC are likely to be heterogeneous, with individual environmental or genetic risk factors still being largely unknown. In this study, we aimed to identify de novo causative copy number variations (CNVs) that contribute to the BEEC. METHODS Array-based molecular karyotyping was performed to screen 110 individuals with BEEC. Promising CNVs were tested for de novo occurrence by investigating parental DNAs. Genes located in regions of rearrangements were prioritized through expression analysis in mice to be sequenced in the complete cohort, to identify high-penetrance mutations involving small sequence changes. RESULTS A de novo 0.9 Mb microduplication involving chromosomal region 19p13.12 was identified in a single patient. This region harbors 20 validated RefSeq genes, and in situ hybridization data showed specific expression of the Wiz gene in regions surrounding the cloaca and the rectum between GD 9.5 and 13.5. Sanger sequencing of the complete cohort did not reveal any pathogenic alterations affecting the coding region of WIZ. CONCLUSIONS The present study suggests chromosomal region 19p13.12 as possibly involved in the development of CBE, but further studies are needed to prove a causal relation. The spatiotemporal expression patterns determined for the genes encompassed suggest a role for Wiz in the development of the phenotype. Our mutation screening, however, could not confirm that WIZ mutations are a frequent cause of CBE, although rare mutations might be detectable in larger patient samples

Querying regular graph patterns

Artículo de publicación ISIGraph data appears in a variety of application domains, and many uses of it, such as querying, matching, and transforming data, naturally result in incompletely specified graph data, that is, graph patterns. While queries need to be posed against such data, techniques for querying patterns are generally lacking, and properties of such queries are not well understood. Our goal is to study the basics of querying graph patterns. The key features of patterns we consider here are node and label variables and edges specified by regular expressions. We provide a classification of patterns, and study standard graph queries on graph patterns. We give precise characterizations of both data and combined complexity for each class of patterns. If complexity is high, we do further analysis of features that lead to intractability, as well as lower-complexity restrictions. Since our patterns are based on regular expressions, query answering for them can be captured by a new automata model. These automata have two modes of acceptance: one captures queries returning nodes, and the other queries returning paths. We study properties of such automata, and the key computational tasks associated with them. Finally, we provide additional restrictions for tractability, and show that some intractable cases can be naturally cast as instances of constraint satisfaction problems.Partial support for this work was provided by Fondecyt grant 1110171, EPSRC grant G049165, and FET-Open Project FoX, grant agreement 233599

Measurements of NaI:Tl Electron Response using SLYNCI: Comparison of Different Samples

This paper measures the sample to sample variation in the light yield non-proportionality of NaI:Tl, and so explores whether this is an invariant characteristic of the material or whether it is dependent on the chemical and physical properties of tested sample. In this work we report on the electron response of nine crystals of NaI(Tl), differing in shape, volume, age, manufacturer and quality. The non-proportionality has been measured at the SLYNCI facility in the energy range between 3.5 to 460 keV. The Scintillation Light Yield Non-proportionality Characterization Instrument (SLYNCI) is a next generation Compton Coincidence device, explicitly designed to study the 'non-proportionality' of the electron response in scintillators and the contribution of this effect to the intrinsic energy resolution. We also discuss the gamma response, x-ray excited emission spectra and decay times for the nine crystals, in order to provide a complete characterization of their physical properties and determine whether the mechanism of scintillation varies between samples

Brain Abnormalities in Patients with Germline Variants in H3F3: Novel Imaging Findings and Neurologic Symptoms Beyond Somatic Variants and Brain Tumors

BACKGROUND AND PURPOSE: Pathogenic somatic variants affecting the genes Histone 3 Family 3A and 3B (H3F3) are extensively linked to the process of oncogenesis, in particular related to central nervous system tumors in children. Recently, H3F3 germline missense variants were described as the cause of a novel pediatric neurodevelopmental disorder. We aimed to investigate patterns of brain MR imaging of individuals carrying H3F3 germline variants. MATERIALS AND METHODS: In this retrospective study, we included individuals with proved H3F3 causative genetic variants and available brain MR imaging scans. Clinical and demographic data were retrieved from available medical records. Molecular genetic testing results were classified using the American College of Medical Genetics criteria for variant curation. Brain MR imaging abnormalities were analyzed according to their location, signal intensity, and associated clinical symptoms. Numeric variables were described according to their distribution, with median and interquartile range. RESULTS: Eighteen individuals (10 males, 56%) with H3F3 germline variants were included. Thirteen of 18 individuals (72%) presented with a small posterior fossa. Six individuals (33%) presented with reduced size and an internal rotational appearance of the heads of the caudate nuclei along with an enlarged and squared appearance of the frontal horns of the lateral ventricles. Five individuals (28%) presented with dysgenesis of the splenium of the corpus callosum. Cortical developmental abnormalities were noted in 8 individuals (44%), with dysgyria and hypoplastic temporal poles being the most frequent presentation. CONCLUSIONS: Imaging phenotypes in germline H3F3-affected individuals are related to brain features, including a small posterior fossa as well as dysgenesis of the corpus callosum, cortical developmental abnormalities, and deformity of lateral ventricles

Bodyweight Perceptions among Texas Women: The Effects of Religion, Race/Ethnicity, and Citizenship Status

Despite previous work exploring linkages between religious participation and health, little research has looked at the role of religion in affecting bodyweight perceptions. Using the theoretical model developed by Levin et al. (Sociol Q 36(1):157–173, 1995) on the multidimensionality of religious participation, we develop several hypotheses and test them by using data from the 2004 Survey of Texas Adults. We estimate multinomial logistic regression models to determine the relative risk of women perceiving themselves as overweight. Results indicate that religious attendance lowers risk of women perceiving themselves as very overweight. Citizenship status was an important factor for Latinas, with noncitizens being less likely to see themselves as overweight. We also test interaction effects between religion and race. Religious attendance and prayer have a moderating effect among Latina non-citizens so that among these women, attendance and prayer intensify perceptions of feeling less overweight when compared to their white counterparts. Among African American women, the effect of increased church attendance leads to perceptions of being overweight. Prayer is also a correlate of overweight perceptions but only among African American women. We close with a discussion that highlights key implications from our findings, note study limitations, and several promising avenues for future research