Transverse momentum spectra of charged particles in proton-proton collisions at s=900\sqrt{s} = 900 GeV with ALICE at the LHC

The inclusive charged particle transverse momentum distribution is measured in proton-proton collisions at $\sqrt{s} = 900$ GeV at the LHC using the ALICE detector. The measurement is performed in the central pseudorapidity region $(|\eta|<0.8)$ over the transverse momentum range $0.15<p_{\rm T}<10$ GeV/$c$. The correlation between transverse momentum and particle multiplicity is also studied. Results are presented for inelastic (INEL) and non-single-diffractive (NSD) events. The average transverse momentum for $|\eta|<0.8$ is $\left<p_{\rm T}\right>_{\rm INEL}=0.483\pm0.001$ (stat.) $\pm0.007$ (syst.) GeV/$c$ and \left_{\rm NSD}=0.489\pm0.001 (stat.) $\pm0.007$ (syst.) GeV/$c$, respectively. The data exhibit a slightly larger $\left<p_{\rm T}\right>$ than measurements in wider pseudorapidity intervals. The results are compared to simulations with the Monte Carlo event generators PYTHIA and PHOJET.Comment: 20 pages, 8 figures, 2 tables, published version, figures at http://aliceinfo.cern.ch/ArtSubmission/node/390

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation

Purpose: Neurofibromatosis type 1 (NF1) is characterized by a highly variable clinical presentation, but almost all NF1-affected adults present with cutaneous and/or subcutaneous neurofibromas. Exceptions are individuals heterozygous for the NF1 in-frame deletion, c.2970_2972del (p.Met992del), associated with a mild phenotype without any externally visible tumors. Methods: A total of 135 individuals from 103 unrelated families, all carrying the constitutional NF1 p.Met992del pathogenic variant and clinically assessed using the same standardized phenotypic checklist form, were included in this study. Results: None of the individuals had externally visible plexiform or histopathologically confirmed cutaneous or subcutaneous neurofibromas. We did not identify any complications, such as symptomatic optic pathway gliomas (OPGs) or symptomatic spinal neurofibromas; however, 4.8% of individuals had nonoptic brain tumors, mostly low-grade and asymptomatic, and 38.8% had cognitive impairment/learning disabilities. In an individual with the NF1 constitutional c.2970_2972del and three astrocytomas, we provided proof that all were NF1-associated tumors given loss of heterozygosity at three intragenic NF1 microsatellite markers and c.2970_297

Female chromosome X mosaicism is age-related and preferentially affects the inactivated X chromosome

To investigate large structural clonal mosaicism of chromosome X, we analysed the SNP microarray intensity data of 38,303 women from cancer genome-wide association studies (20,878 cases and 17,425 controls) and detected 124 mosaic X events42Mb in 97 (0.25%) women. Here we show rates for X-chromosome mosaicism are four times higher than mean autosomal rates; X mosaic events more often include the entire chromosome and participants with X events more likely harbour autosomal mosaic events. X mosaicism frequency increases with age (0.11% in 50-year olds; 0.45% in 75-year olds), as reported for Y and autosomes. Methylation array analyses of 33 women with X mosaicism indicate events preferentially involve the inactive X chromosome. Our results provide further evidence that the sex chromosomes undergo mosaic events more frequently than autosomes, which could have implications for understanding the underlying mechanisms of mosaic events and their possible contribution to risk for chronic diseases

Photometry and surface physical properties of comet 19P/Borrelly

The successful Deep Space 1 flyby of Comet P/19 Borrelly offers an unprecedented opportunity to perform disk-resolved photometry and photometric modeling of a comet's nucleus. The flyby occurred at a favorable ground-based apparition, enabling concomitant telescopic observations that provided both the &quot;big picture&quot; in time and space and observations at photometric viewing geometries not attained by the spacecraft. The solar phase angle of the encounter period changed from 87 to 52 degrees over a period of 1.5 hours; this range is ideal for determining the macroscopic roughness of the comet's surface. The microphysical texture of the surface is best determined by ground based observations at aphelion and near opposition. The combination of both disk resolved measurements from DS1 and disk integrated measurements from both DS1 and the ground permits a constrained set of photometric parameters to be derived. Preliminary analysis of the global geometric albedo yields a value at V wavelengths (550 nm) between 0.031 +/- 0.005 (for a Mathilde-type solar phase curve at phase angles less than 10 degrees) and 0.042 +/- 0.005 (for an average C-type phase curve). Albedo variegations of at least a factor of two exist on Borrelly's surface: Its light curve amplitude of nearly a magnitude may thus not be due to shape alone. The image resolution of 60 m allows mapping of albedo variegations in terms of active jet morphology. Funded by NASA

Observations of comet 19P/Borrelly from the Miniature Integrated Camera and Spectrometer (MICAS) aboard Deep Space 1

Images from the DS1 MICAS CCD camera reveal in three dimensions, the complex characteristics of Borrelly's nucleus, coma, and jets. The images acquired during the last 2 hours of the approach, as the nucleus became resolved and grew to roughly 150 pixels in length, provide stereo coverage of both the nucleus and inner coma over a wide range of phase angle and exposure time. The principal structure in the coma is a sunward-pointed collimated jet that is also visible in ground-based images. This jet is canted about 30 degrees off the sun line and appears to be roughly aligned with the local vertical at the surface from where it originates. Long-exposure images reveal details of the structure of the inner coma. They show the jet, visible at long range, to be composed of at least three discrete components whose locations evidently correspond to specific surface features. The elongated nucleus exhibits topographically distinct terrains and strong albedo variegations (of at least a factor of 2). The jets emanate from within the brighter smoother rolling plains. A consistent model is that the main jets are co-aligned with the rotation axis of the nucleus and issue from regions on the plains that are currently in constant sunlight. The other major terrain is a rough unit that is darker than the average, includes even darker isolated spots, and appears as a jumbled topography. Other surface features include parallel ridges, crater-like depressions, numerous narrow dark fracture-like features, and areas of mottled albedo. However no small fresh impact craters are evident attesting to a geologically young, actively evolving surface