Genome-wide association study of borderline personality disorder reveals genetic overlap with bipolar disorder, major depression and schizophrenia

Borderline personality disorder (BOR) is determined by environmental and genetic factors, and characterized by affective instability and impulsivity, diagnostic symptoms also observed in manic phases of bipolar disorder (BIP). Up to 20% of BIP patients show comorbidity with BOR. This report describes the first case–control genome-wide association study (GWAS) of BOR, performed in one of the largest BOR patient samples worldwide. The focus of our analysis was (i) to detect genes and gene sets involved in BOR and (ii) to investigate the genetic overlap with BIP. As there is considerable genetic overlap between BIP, major depression (MDD) and schizophrenia (SCZ) and a high comorbidity of BOR and MDD, we also analyzed the genetic overlap of BOR with SCZ and MDD. GWAS, gene-based tests and gene-set analyses were performed in 998 BOR patients and 1545 controls. Linkage disequilibrium score regression was used to detect the genetic overlap between BOR and these disorders. Single marker analysis revealed no significant association after correction for multiple testing. Gene-based analysis yielded two significant genes: DPYD (P=4.42 × 10−7) and PKP4 (P=8.67 × 10−7); and gene-set analysis yielded a significant finding for exocytosis (GO:0006887, PFDR=0.019; FDR, false discovery rate). Prior studies have implicated DPYD, PKP4 and exocytosis in BIP and SCZ. The most notable finding of the present study was the genetic overlap of BOR with BIP (rg=0.28 [P=2.99 × 10−3]), SCZ (rg=0.34 [P=4.37 × 10−5]) and MDD (rg=0.57 [P=1.04 × 10−3]). We believe our study is the first to demonstrate that BOR overlaps with BIP, MDD and SCZ on the genetic level. Whether this is confined to transdiagnostic clinical symptoms should be examined in future studies

Nuclear data from AMS & nuclear data for AMS - some examples

We summarize some recent cross-section measurements using accelerator mass spectrometry (AMS). AMS represents an ultra-sensitive technique for measuring a limited, but steadily increasing number of longer-lived radionuclides. This method implies a two-step procedure with sample activation and subsequent AMS measurement. Applications include nuclear astrophysics, nuclear technology (nuclear fusion, nuclear fission and advanced reactor concepts and radiation dose estimations). A series of additional applications involves cosmogenic radionuclides in environmental, geological and extraterrestrial studies. Lack of information exists for a list of nuclides as pointed out by nuclear data requests. An overview of some recent measurements is given and the method is exemplified for some specific neutron-induced reactions.JRC.D.4-Standards for Nuclear Safety, Security and Safeguard

First near-relativistic solar electron events observed by EPD onboard Solar Orbiter

Context. Solar Orbiter, launched in February 2020, started its cruise phase in June 2020, in coincidence with its first perihelion at 0.51 au from the Sun. The in situ instruments onboard, including the Energetic Particle Detector (EPD), operate continuously during the cruise phase enabling the observation of solar energetic particles. Aims. In situ measurements of the first near-relativistic solar electron events observed in July 2020 by EPD are analyzed and the solar origins and the conditions for the interplanetary transport of these particles investigated. Methods. Electron observations from keV energies to the near-relativistic range were combined with the detection of type III radio bursts and extreme ultraviolet (EUV) observations from multiple spacecraft in order to identify the solar origin of the electron events. Electron anisotropies and timing as well as the plasma and magnetic field environment were evaluated to characterize the interplanetary transport conditions. Results. All electron events were clearly associated with type III radio bursts. EUV jets were also found in association with all of them except one. A diversity of time profiles and pitch-angle distributions was observed. Different source locations and different magnetic connectivity and transport conditions were likely involved. The July 11 event was also detected by Wind, separated 107 degrees in longitude from Solar Orbiter. For the July 22 event, the Suprathermal Electron and Proton (STEP) sensor of EPD allowed for us to not only resolve multiple electron injections at low energies, but it also provided an exceptionally high pitch-angle resolution of a very anisotropic beam. This, together with radio observations of local Langmuir waves suggest a very good magnetic connection during the July 22 event. This scenario is challenged by a high-frequency occultation of the type III radio burst and a nominally non-direct connection to the source; therefore, magnetic connectivity requires further investigation

"Safe" Coulomb Excitation of 30Mg

We report on the first radioactive beam experiment performed at the recently commissioned REX-ISOLDE facility at CERN in conjunction with the highly efficient gamma spectrometer MINIBALL. Using 30Mg ions accelerated to an energy of 2.25 MeV/u together with a thin nat-Ni target, Coulomb excitation of the first excited 2+ states of the projectile and target nuclei well below the Coulomb barrier was observed. From the measured relative de-excitation gamma ray yields the B(E2; 0+ -> 2+) value of 30Mg was determined to be 241(31) e2fm4. Our result is lower than values obtained at projectile fragmentation facilities using the intermediate-energy Coulomb excitation method, and confirms the theoretical conjecture that the neutron-rich magnesium isotope 30Mg lies still outside the ``island of inversion''

11Be(beta-p), a quasi-free neutron decay?

We have observed beta-delayed proton emission from the neutron-rich nucleus 11Be by analysing a sample collected at the ISOLDE facility at CERN with accelerator mass spectrometry (AMS). With a branching ratio of (8.4 +- 0.6) 10^{-6} the strength of this decay mode, as measured by the B(GT)-value, is unexpectedly high. The result is discussed within a simple single-particle model and could be interpreted as a quasi-free decay of the 11Be halo neutron into a single-proton state.Comment: 6 pages, 2 figure

Brownian motion: a paradigm of soft matter and biological physics

This is a pedagogical introduction to Brownian motion on the occasion of the 100th anniversary of Einstein's 1905 paper on the subject. After briefly reviewing Einstein's work in its contemporary context, we pursue some lines of further developments and applications in soft condensed matter and biology. Over the last century Brownian motion became promoted from an odd curiosity of marginal scientific interest to a guiding theme pervading all of the modern (live) sciences.Comment: 30 pages, revie

Characterization of silicon drift detectors with electrons for the TRISTAN project

Sterile neutrinos are a minimal extension of the standard model of particle physics. A promising model-independent way to search for sterile neutrinos is via high-precision β-spectroscopy. The Karlsruhe tritium neutrino (KATRIN) experiment, equipped with a novel multi-pixel silicon drift detector focal plane array and read-out system, named the TRISTAN detector, has the potential to supersede the sensitivity of previous laboratory-based searches. In this work we present the characterization of the first silicon drift detector prototypes with electrons and we investigate the impact of uncertainties of the detector\u27s response to electrons on the final sterile neutrino sensitivity

Characterization of Silicon Drift Detectors with Electrons for the TRISTAN Project

Sterile neutrinos are a minimal extension of the Standard Model of Particle Physics. A promising model-independent way to search for sterile neutrinos is via high-precision beta spectroscopy. The Karlsruhe Tritium Neutrino (KATRIN) experiment, equipped with a novel multi-pixel silicon drift detector focal plane array and read-out system, named the TRISTAN detector, has the potential to supersede the sensitivity of previous laboratory-based searches. In this work we present the characterization of the first silicon drift detector prototypes with electrons and we investigate the impact of uncertainties of the detector's response to electrons on the final sterile neutrino sensitivity.Comment: 18 pages, 8 figures. J. Phys. G: Nucl. Part. Phys. 48 01500