Co-occurrence of a novel PDGFRB variant and likely pathogenic variant in CASR in an individual with extensive intracranial calcifications and hypocalcaemia

No abstract available

Monitoring of lung edema by microwave reflectometry during lung ischemia-reperfusion injury in vivo

It is still unclear whether lung edema can be monitored by microwave reflectometry and whether the measured changes in lung dry matter content (DMC) are accompanied by changes in PaO(2) and in pro-to anti-inflammatory cytokine expression (IFN-gamma and IL-10). Right rat lung hili were cross-clamped at 37 degrees C for 0, 60, 90 or 120 min ischemia followed by 120 min reperfusion. After 90 min (DMC: 15.9 +/- 1.4%; PaO(2): 76.7 +/- 18 mm Hg) and 120 min ischemia (DMC: 12.8 +/- 0.6%; PaO(2): 43 +/- 7 mm Hg), a significant decrease in DMC and PaO(2) throughout reperfusion compared to 0 min ischemia (DMC: 19.5 +/- 1.11%; PaO(2): 247 +/- 33 mm Hg; p < 0.05) was observed. DMC and PaO(2) decreased after 60 min ischemia but recovered during reperfusion (DMC: 18.5 +/- 2.4%; PaO(2) : 173 +/- 30 mm Hg). DMC values reflected changes on the physiological and molecular level. In conclusion, lung edema monitoring by microwave reflectometry might become a tool for the thoracic surgeon. Copyright (c) 2006 S. Karger AG, Basel

A basin-free spherical shape as an outcome of a giant impact on asteroid Hygiea

(10) Hygiea is the fourth largest main belt asteroid and the only known asteroid whose surface composition appears similar to that of the dwarf planet (1) Ceres1,2, suggesting a similar origin for these two objects. Hygiea suffered a giant impact more than 2 Gyr ago3 that is at the origin of one of the largest asteroid families. However, Hygeia has never been observed with sufficiently high resolution to resolve the details of its surface or to constrain its size and shape. Here, we report high-angular-resolution imaging observations of Hygiea with the VLT/SPHERE instrument (~20 mas at 600 nm) that reveal a basin-free nearly spherical shape with a volume-equivalent radius of 217 ± 7 km, implying a density of 1,944 ± 250 kg m−3 to 1σ. In addition, we have determined a new rotation period for Hygiea of ~13.8 h, which is half the currently accepted value. Numerical simulations of the family-forming event show that Hygiea’s spherical shape and family can be explained by a collision with a large projectile (diameter ~75–150 km). By comparing Hygiea’s sphericity with that of other Solar System objects, it appears that Hygiea is nearly as spherical as Ceres, opening up the possibility for this object to be reclassified as a dwarf planet.P.V., A.D. and B.C. were supported by CNRS/INSU/PNP. M.Brož was supported by grant 18-04514J of the Czech Science Foundation. J.H. and J.D. were supported by grant 18-09470S of the Czech Science Foundation and by the Charles University Research Programme no. UNCE/SCI/023. This project has received funding from the European Union’s Horizon 2020 research and innovation programmes under grant agreement nos 730890 and 687378. This material reflects only the authors’ views, and the European Commission is not liable for any use that may be made of the information contained herein. TRAPPIST-North is a project funded by the University of Liège, in collaboration with Cadi Ayyad University of Marrakech (Morocco). TRAPPIST-South is a project funded by the Belgian Fonds (National) de la Recherche Scientifique (F.R.S.-FNRS) under grant FRFC 2.5.594.09.F. E.J. and M.G. are F.R.S.-FNRS Senior Research Associates

Genetic determinants of telomere length from 109,122 ancestrally diverse whole-genome sequences in TOPMed

Genetic studies on telomere length are important for understanding age-related diseases. Prior GWAS for leukocyte TL have been limited to European and Asian populations. Here, we report the first sequencing-based association study for TL across ancestrally-diverse individuals (European, African, Asian and Hispanic/Latino) from the NHLBI Trans-Omics for Precision Medicine (TOPMed) program. We used whole genome sequencing (WGS) of whole blood for variant genotype calling and the bioinformatic estimation of telomere length in n=109,122 individuals. We identified 59 sentinel variants (p-value OBFC1indicated the independent signals colocalized with cell-type specific eQTLs for OBFC1 (STN1). Using a multi-variant gene-based approach, we identified two genes newly implicated in telomere length, DCLRE1B (SNM1B) and PARN. In PheWAS, we demonstrated our TL polygenic trait scores (PTS) were associated with increased risk of cancer-related phenotypes

Culture Negative Orthopedic Biofilm Infections

X, 144 p. 47 illus., 40 illus. in color.online re

Asteroid thermophysical modeling

The field of asteroid thermophysical modeling has experienced an extraordinary growth in the last ten years, as new thermal infrared data became available for hundreds of thousands of asteroids. The infrared emission of asteroids depends on the body's size, shape, albedo, thermal inertia, roughness and rotational properties. These parameters can therefore be derived by thermophysical modeling of infrared data. Thermophysical modeling led to asteroid size estimates that were confirmed at the few-percent level by later spacecraft visits. We discuss how instrumentation advances now allow mid-infrared interferometric observations as well as high-accuracy spectro-photometry, posing their own set of thermal-modeling challenges.We present major breakthroughs achieved in studies of the thermal inertia, a sensitive indicator for the nature of asteroids soils, allowing us, for instance, to determine the grain size of asteroidal regoliths. Thermal inertia also governs non-gravitational effects on asteroid orbits, requiring thermophysical modeling for precise asteroid dynamical studies. The radiative heating of asteroids, meteoroids, and comets from the Sun also governs the thermal stress in surface material; only recently has it been recognized as a significant weathering process. Asteroid space missions with thermal infrared instruments are currently undergoing study at all major space agencies. This will require a high level of sophistication of thermophysical models in order to analyze high-quality spacecraft data