20 research outputs found
Ультрадисперсные порошки на основе железа как катализаторы синтеза жидких углеводородов из СО и Н[2]
International audienceTo date, uniparental disomy (UPD) with phenotypic relevance is described for different chromosomes and it is likely that additional as yet unidentified UPD phenotypes exist. Due to technical difficulties and limitations of time and resources, molecular analyses for UPD using microsatellite markers are only performed in cases with specific phenotypic features. In this study, we carried out a whole genome UPD screening based on a microarray genotyping technique. Six patients with the diagnosis of both complete or segmental UPD including Prader-Willi syndrome (PWS; matUPD15), Angelman syndrome (AS; patUPD15), Silver-Russell syndrome (SRS; matUPD7), Beckwith-Wiedemann syndrome (BWS; patUPD11p), pseudohypoparathyroidism (PHP; patUPD20q) and a rare chromosomal rearrangement (patUPD2p, matUPD2q), were genotyped using the GeneChip Human Mapping 10K Array. Our results demonstrate the presence of UPD in the patients with high efficiency and reveal clues about the mechanisms of UPD formation. We thus conclude that array based SNP genotyping is a fast, cost-effective, and reliable approach for whole genome UPD screening
A Kinematical Approach to Conformal Cosmology
We present an alternative cosmology based on conformal gravity, as originally
introduced by H. Weyl and recently revisited by P. Mannheim and D. Kazanas.
Unlike past similar attempts our approach is a purely kinematical application
of the conformal symmetry to the Universe, through a critical reanalysis of
fundamental astrophysical observations, such as the cosmological redshift and
others. As a result of this novel approach we obtain a closed-form expression
for the cosmic scale factor R(t) and a revised interpretation of the space-time
coordinates usually employed in cosmology. New fundamental cosmological
parameters are introduced and evaluated. This emerging new cosmology does not
seem to possess any of the controversial features of the current standard
model, such as the presence of dark matter, dark energy or of a cosmological
constant, the existence of the horizon problem or of an inflationary phase.
Comparing our results with current conformal cosmologies in the literature, we
note that our kinematic cosmology is equivalent to conformal gravity with a
cosmological constant at late (or early) cosmological times. The cosmic scale
factor and the evolution of the Universe are described in terms of several
dimensionless quantities, among which a new cosmological variable delta emerges
as a natural cosmic time. The mathematical connections between all these
quantities are described in details and a relationship is established with the
original kinematic cosmology by L. Infeld and A. Schild. The mathematical
foundations of our kinematical conformal cosmology will need to be checked
against current astrophysical experimental data, before this new model can
become a viable alternative to the standard theory.Comment: Improved version, with minor changes. 58 pages, including 7 figures
and one table. Accepted for publication in General Relativity and Gravitation
(GERG
Comutations and KRASG12C Inhibitor Efficacy in Advanced NSCLC
Molecular modifiers of KRASG12C inhibitor (KRASG12Ci) efficacy in advanced KRASG12C-mutant NSCLC are poorly defined. In a large unbiased clinicogenomic analysis of 424 patients with non-small cell lung cancer (NSCLC), we identified and validated coalterations in KEAP1, SMARCA4, and CDKN2A as major independent determinants of inferior clinical outcomes with KRASG12Ci monotherapy. Collectively, comutations in these three tumor suppressor genes segregated patients into distinct prognostic subgroups and captured ∼50% of those with early disease progression (progression-free survival ≤3 months) with KRASG12Ci. Pathway-level integration of less prevalent coalterations in functionally related genes nominated PI3K/AKT/MTOR pathway and additional baseline RAS gene alterations, including amplifications, as candidate drivers of inferior outcomes with KRASG12Ci, and revealed a possible association between defective DNA damage response/repair and improved KRASG12Ci efficacy. Our findings propose a framework for patient stratification and clinical outcome prediction in KRASG12C-mutant NSCLC that can inform rational selection and appropriate tailoring of emerging combination therapies
Sloan Digital Sky Survey IV: Mapping the Milky Way, Nearby Galaxies, and the Distant Universe
We describe the Sloan Digital Sky Survey IV (SDSS-IV), a project encompassing three major spectroscopic programs. The Apache Point Observatory Galactic Evolution Experiment 2 (APOGEE-2) is observing hundreds of thousands of Milky Way stars at high resolution and high signal-to-noise ratios in the near-infrared. The Mapping Nearby Galaxies at Apache Point Observatory (MaNGA) survey is obtaining spatially resolved spectroscopy for thousands of nearby galaxies (median ). The extended Baryon Oscillation Spectroscopic Survey (eBOSS) is mapping the galaxy, quasar, and neutral gas distributions between and 3.5 to constrain cosmology using baryon acoustic oscillations, redshift space distortions, and the shape of the power spectrum. Within eBOSS, we are conducting two major subprograms: the SPectroscopic IDentification of eROSITA Sources (SPIDERS), investigating X-ray AGNs and galaxies in X-ray clusters, and the Time Domain Spectroscopic Survey (TDSS), obtaining spectra of variable sources. All programs use the 2.5 m Sloan Foundation Telescope at the Apache Point Observatory; observations there began in Summer 2014. APOGEE-2 also operates a second near-infrared spectrograph at the 2.5 m du Pont Telescope at Las Campanas Observatory, with observations beginning in early 2017. Observations at both facilities are scheduled to continue through 2020. In keeping with previous SDSS policy, SDSS-IV provides regularly scheduled public data releases; the first one, Data Release 13, was made available in 2016 July
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Pathophysiologic Role of Contact Activation in Bleeding Followed by Thromboembolic Complications After Implantation of a Ventricular Assist Device
The time period after implantation of a ventricular assist device in patients with end-stage heart disease is complicated by hemorrhage in the early postoperative period and by thromboembolism in the later course. To investigate the pathophysiologic role of contact activation in 12 bridging patients (10 patients with a paracorporeal Berlin Heart [Berlin Heart GmbH, Berlin, Germany], 2 patients with an intracorporeal Novacor system [Novacor N100; Baxter, Oakland, CA]), hemostatic parameters were determined until heart transplantation or at least up to the 51st postoperative day. The following were observed1) In the early postoperative period, until day 15, levels of contact factors XI, XII, and prekallikrein were below normal, whereas levels of plasmin-a2–antiplasmin (PAP) complexes were elevated. Thrombin–antithrombin III (TAT) complexes, as well as platelet factor 4 and β-thromboglobulin, significantly increased immediately after surgery. 2) In the later postoperative period, starting with the third postoperative week, an increase of factors XI, XII, and prekallikrein was observed. PAP and TAT complexes, as well as platelet factor 4 and β-thromboglobulin, remained elevated. It is concluded that, in the early postoperative period, hemostasis is influenced mainly by an activation of the intrinsic contact system dependent fibrinolytic system with consumption of contact factors and increased levels of PAP complexes, whereas later system dependent fibrinolysis becomes less important, leading to a shift of the balance toward coagulation, with sustained prothrombin and platelet activation. This is in accord with the observed clinical complications (e.g., early postoperative bleeding, and thromboembolic events later on)
Praxisorientierte Psychotherapieforschung
Praxisorientierte Psychotherapieforschung und insbesondere verfahrensübergreifende, patientenorientierte Aspekte stellen den aktuellen State of the Art dar, der die Interessen der Praxis sowie die akademischen Anforderungen sinnvoll verbindet. Der vorliegende Leitfaden dient als Orientierungshilfe in Bezug auf Grundlagen für Wissenschaft und Forschung in der psychotherapeutischen Ausbildung und möchte ein verfahrensübergreifendes Selbstverständnis von wissenschaftlich fundierter Psychotherapie fördern. Teil A "Theorie der Psychotherapieforschung" stellt die aktuellen Erkenntnisse zur wissenschaftstheoretischen Reflexion, zu Paradigmen, Gütekriterien und Zielsetzungen der (praxisorientierten) Psychotherapieforschung dar. Im Teil B "Praxis der Psychotherapieforschung" werden die umsetzungsorientierten Aspekte zu Forschungsansätzen,-designs und -methoden sowie Qualitätskriterien für wissenschaftliche Arbeiten anwendungsorientiert aufbereitet. Teil C enthält abgeleitete Empfehlungen für die psychotherapeutischen Ausbildungsvereine, die auf einem Stufenplan zur Förderung von Wissenschaft und Forschung in den psychotherapeutischen Ausbildungseinrichtungen basieren