Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease

Abstract: Very-early-onset inflammatory bowel disease (VEO-IBD) is a heterogeneous phenotype associated with a spectrum of rare Mendelian disorders. Here, we perform whole-exome-sequencing and genome-wide genotyping in 145 patients (median age-at-diagnosis of 3.5 years), in whom no Mendelian disorders were clinically suspected. In five patients we detect a primary immunodeficiency or enteropathy, with clinical consequences (XIAP, CYBA, SH2D1A, PCSK1). We also present a case study of a VEO-IBD patient with a mosaic de novo, pathogenic allele in CYBB. The mutation is present in ~70% of phagocytes and sufficient to result in defective bacterial handling but not life-threatening infections. Finally, we show that VEO-IBD patients have, on average, higher IBD polygenic risk scores than population controls (99 patients and 18,780 controls; P < 4 × 10−10), and replicate this finding in an independent cohort of VEO-IBD cases and controls (117 patients and 2,603 controls; P < 5 × 10−10). This discovery indicates that a polygenic component operates in VEO-IBD pathogenesis

Experimental and numerical studies of structure of cluster targets for femtosecond laser pulses

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Characterization of argon cluster jets for the study of laser-cluster interaction

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Characterization of argon cluster jets for laser interaction studies

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Spatial distribution of cluster size and density in supersonic jets as targets for intense laser pulses

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Particles formation in an expanding plasma

Interaction of a laser beam with a target generates a high velocity expanding plasma plume, solid debris and liquid nano- and microparticles. They are produced from plasma recombination and vapor condensation and can be deposited on optical elements located nearby the target. Two distinct kinds of particles were observed depending on the temperature achieved in the plasma plume: large micrometer-size fragments for temperatures lower than the critical temperature, and very small nanometer-size particles for higher temperatures. The paper presents experimental observations of fragments and nanoparticles in plasma plumes and a comparison with models

Measurement of total cross sections for photoproduction on nuclei in the -resonance region

Copy held by FIZ Karlsruhe; available from UB/TIB Hannover / FIZ - Fachinformationszzentrum Karlsruhe / TIB - Technische InformationsbibliothekSIGLEDEGerman