Multiple tumors due to mosaic genome-wide paternal uniparental disomy

Mosaic genome-wide paternal uniparental disomy is an infrequently described disorder in which affected individuals have signs and symptoms that may resemble Beckwith–Wiedemann syndrome. In addition, they can develop multiple benign and malignant tumors throughout life. Routine molecular diagnostics may not detect the (characteristic) low level of mosaicism, and the diagnosis is likely to be missed. Genetic counseling and a life-long alertness for the development of tumors is indicated. We describe the long diagnostic process of a patient who already had a tumor at birth and developed multiple tumors in childhood and adulthood. Furthermore, we offer clues to recognize the entit

The large trans-Neptunian object 2002 TC302 from combined stellar occultation, photometry, and astrometry data

Context. Deriving physical properties of trans-Neptunian objects is important for the understanding of our Solar System. This requires observational efforts and the development of techniques suitable for these studies. Aims. Our aim is to characterize the large trans-Neptunian object (TNO) 2002 TC302. Methods. Stellar occultations offer unique opportunities to determine key physical properties of TNOs. On 28 January 2018, 2002 TC302 occulted a mv ~ 15.3 star with designation 593-005847 in the UCAC4 stellar catalog, corresponding to Gaia source 130957813463146112. Twelve positive occultation chords were obtained from Italy, France, Slovenia, and Switzerland. Also, four negative detections were obtained near the north and south limbs. This represents the best observed stellar occultation by a TNO other than Pluto in terms of the number of chords published thus far. From the 12 chords, an accurate elliptical fit to the instantaneous projection of the body can be obtained that is compatible with the near misses. Results. The resulting ellipse has major and minor axes of 543 ± 18 km and 460 ± 11 km, respectively, with a position angle of 3 ± 1 degrees for the minor axis. This information, combined with rotational light curves obtained with the 1.5 m telescope at Sierra Nevada Observatory and the 1.23 m telescope at Calar Alto observatory, allows us to derive possible three-dimensional shapes and density estimations for the body based on hydrostatic equilibrium assumptions. The effective diameter in equivalent area is around 84 km smaller than the radiometrically derived diameter using thermal data from Herschel and Spitzer Space Telescopes. This might indicate the existence of an unresolved satellite of up to ~300 km in diameter, which is required to account for all the thermal flux, although the occultation and thermal diameters are compatible within their error bars given the considerable uncertainty of the thermal results. The existence of a potential satellite also appears to be consistent with other ground-based data presented here. From the effective occultation diameter combined with absolute magnitude measurements we derive a geometric albedo of 0.147 ± 0.005, which would be somewhat smaller if 2002 TC302 has a satellite. The best occultation light curves do not show any signs of ring features or any signatures of a global atmosphere.Funding from Spanish projects AYA2014-56637-C2-1-P, AYA2017-89637-R, from FEDER, and Proyecto de Excelencia de la Junta de Andalucía 2012-FQM1776 is acknowledged. We would like to acknowledge financial support by the Spanish grant AYA-RTI2018-098657-JI00 “LEO-SBNAF” (MCIU/AEI/FEDER, UE) and the financial support from the State Agency for Research of the Spanish MCIU through the “Center of Excellence Severo Ochoa” award for the Instituto de Astrofísica de Andalucía (SEV- 2017-0709). Part of the research received funding from the European Union’s Horizon 2020 Research and Innovation Programme, under grant agreement no. 687378 and from the ERC programme under Grant Agreement no. 669416 Lucky Star. The following authors acknowledge the respective CNPq grants: FB-R 309578/2017-5; RV-M 304544/2017-5, 401903/2016-8; J.I.B.C. 308150/2016-3; MA 427700/2018-3, 310683/2017-3, 473002/2013-2. This study was financed in part by the Coordenação de Aperfeiaçoamento de Pessoal de Nível Superior - Brasil (CAPES) - Finance Code 001 and the National Institute of Science and Technology of the e-Universe project (INCT do e-Universo, CNPq grant 465376/2014-2). GBR acknowledges CAPES-FAPERJ/PAPDRJ grant E26/203.173/2016, MA FAPERJ grant E-26/111.488/2013 and ARGJr FAPESP grant 2018/11239-8. E.F.-V. acknowledges support from the 2017 Preeminent Postdoctoral Program (P3) at UCF. C.K., R.S., A.F-T., and G.M. have been supported by the K-125015 and GINOP-2.3.2-15-2016-00003 grants of the Hungarian National Research, Development and Innovation Office (NKFIH), Hungary. G.M. was also supported by the Hungarian National Research, Development and Innovation Office (NKFIH) grant PD-128 360. R.K. and T.P. were supported by the VEGA 2/0031/18 grant

Distinctive pattern of temporal atrophy in patients with frontotemporal dementia and the I383V variant in TARDBP

Introduction Frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) are closely related disorders, linked pathologically and g

Computational pan-genomics: Status, promises and challenges

Many disciplines, from human genetics and oncology to plant breeding, microbiology and virology, commonly face the challenge of analyzing rapidly increasing numbers of genomes. In case of Homo sapiens, the number of sequenced genomes will approach hundreds of thousands in the next few years. Simply scaling up established bioinformatics pipelines will not be sufficient for leveraging the full potential of such rich genomic data sets. Instead, novel, qualitatively different Computational methods and paradigms are needed.We will witness the rapid extension of Computational pan-genomics, a new sub-area of research in Computational biology. In this article, we generalize existing definitions and understand a pangenome as any collection of genomic sequences to be analyzed jointly or to be used as a reference. We examine already available approaches to construct and use pan-genomes, discuss the potential benefits of future technologies and methodologies and review open challenges from the vantage point of the above-mentioned biological disciplines. As a prominent example for a Computational paradigm shift, we particularly highlight the transition from the representation of reference genomes as strings to representations

The size, shape, density and ring of the dwarf planet Haumea from a stellar occultation

Haumea—one of the four known trans-Neptunian dwarf planets—is a very elongated and rapidly rotating body1, 2, 3. In contrast to other dwarf planets4, 5, 6, its size, shape, albedo and density are not well constrained. The Centaur Chariklo was the first body other than a giant planet known to have a ring system7, and the Centaur Chiron was later found to possess something similar to Chariklo’s rings8, 9. Here we report observations from multiple Earth-based observatories of Haumea passing in front of a distant star (a multi-chord stellar occultation). Secondary events observed around the main body of Haumea are consistent with the presence of a ring with an opacity of 0.5, width of 70 kilometres and radius of about 2,287 kilometres. The ring is coplanar with both Haumea’s equator and the orbit of its satellite Hi’iaka. The radius of the ring places it close to the 3:1 mean-motion resonance with Haumea’s spin period—that is, Haumea rotates three times on its axis in the time that a ring particle completes one revolution. The occultation by the main body provides an instantaneous elliptical projected shape with axes of about 1,704 kilometres and 1,138 kilometres. Combined with rotational light curves, the occultation constrains the three-dimensional orientation of Haumea and its triaxial shape, which is inconsistent with a homogeneous body in hydrostatic equilibrium. Haumea’s largest axis is at least 2,322 kilometres, larger than previously thought, implying an upper limit for its density of 1,885 kilograms per cubic metre and a geometric albedo of 0.51, both smaller than previous estimates1, 10, 11. In addition, this estimate of the density of Haumea is closer to that of Pluto than are previous estimates, in line with expectations. No global nitrogen- or methane-dominated atmosphere was detected.J.L.O. acknowledges funding from Spanish and Andalusian grants MINECO AYA-2014-56637-C2-1-P and J. A. 2012-FQM1776 as well as FEDER funds. Part of the research leading to these results received funding from the European Union’s Horizon 2020 Research and Innovation Programme, under grant agreement no. 687378. B.S. acknowledges support from the French grants ‘Beyond Neptune’ ANR-08-BLAN-0177 and ‘Beyond Neptune II’ ANR-11-IS56-0002. Part of the research leading to these results has received funding from the European Research Council under the European Community’s H2020 (2014-2020/ERC grant agreement no. 669416 ‘Lucky Star’). A.P. and R.S. have been supported by the grant LP2012-31 of the Hungarian Academy of Sciences. All of the Hungarian contributors acknowledge the partial support from K-125015 grant of the National Research, Development and Innovation Office (NKFIH). G.B.-R., F.B.-R., F.L.R., R.V.-M., J.I.B.C., M.A., A.R.G.-J. and B.E.M. acknowledge support from CAPES, CNPq and FAPERJ. J.C.G. acknowledges funding from AYA2015-63939-C2-2-P and from the Generalitat Valenciana PROMETEOII/2014/057. K.H. and P.P. were supported by the project RVO:67985815. The Astronomical Observatory of the Autonomous Region of the Aosta Valley acknowledges a Shoemaker NEO Grant 2013 from The Planetary Society. We acknowledge funds from a 2016 ‘Research and Education’ grant from Fondazione CRT. We also acknowledge the Slovakian project ITMS no. 26220120029

Mini-logique : logique rapide pour le traitement des informations en physique de haute énergie

The use of fast integrated circuits to build spark chamber triggering logics allows one, to obtain a data processing time less than 100 ns with an input resolving time of 6 ns. The logical principle is detailed and two examples are given.L'utilisation de circuits intégrés rapides pour la construction de logiques de déclenchement de chambres à étincelles permet d'obtenir des temps de traitement des informations inférieurs à 100 ns avec des temps de résolution à l'entrée de 6 ns. Le principe de la logique est détaillé et deux exemples sont présentés

Mini-logique : logique rapide pour le traitement des informations en physique de haute énergie

L'utilisation de circuits intégrés rapides pour la construction de logiques de déclenchement de chambres à étincelles permet d'obtenir des temps de traitement des informations inférieurs à 100 ns avec des temps de résolution à l'entrée de 6 ns. Le principe de la logique est détaillé et deux exemples sont présentés

Mise au point bibliographique: adsorption des pesticides par les sols et leurs constituants: 4-Consequences des phenomenes d'adsorption

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Effet des matieres organiques ajoutees au sol sur l'adsorption des herbicides. Influence de la composition des matieres organiques

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Effet des matieres organiques ajoutees au sol sur l'adsorption des herbicides. Influence de la composition des matieres organiques

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