Case Report First-in-Man Method Description: Left Ventricular Unloading With iVAC2L During Veno-Arterial Extracorporeal Membrane Oxygenation: From Veno-Arterial Extracorporeal Membrane Oxygenation to ECMELLA to EC-iVAC®

Veno-arterial extracorporeal membrane oxygenation (V-A ECMO) is increasingly used in bi-ventricular failure with cardiogenic shock to maintain systemic perfusion. Nonetheless, it tends to increase left ventricular (LV) afterload and myocardial oxygen demand. In order to mitigate these negative effects on the myocardium, an Impella CP® (3.5 L/min Cardiac Output) can be used in conjunction with V-A ECMO (ECMELLA approach). We implemented this strategy in a patient with severe acute myocarditis complicated by cardiogenic shock. Due to a hemolysis crisis, Impella CP® had to be substituted with PulseCath iVAC2L®, which applies pulsatile flow to unload the LV. A subsequent improvement in LV systolic function was noted, with increased LV ejection fraction (LVEF), LV end-diastolic diameter (LVEDD) reduction, and a reduction in plasma free hemoglobin. This case documents the efficacy of iVAC2L in replacing Impella CP as a LV vent during V-A ECMO, with less hemolysis

Integration of maXs-type microcalorimeter detectors for high-resolution x-ray spectroscopy into the experimental environment at the CRYRING@ESR electron cooler

We report on the first integration of novel magnetic microcalorimeter detectors (MMCs), developed within SPARC (Stored Particles Atomic Physics Research Collaboration), into the experimental environment of storage rings at GSI$^6$, Darmstadt, namely at the electron cooler of CRYRING@ESR. Two of these detector systems were positioned at the 0° and 180° view ports of the cooler section to obtain high-resolution x-ray spectra originating from a stored beam of hydrogen-like uranium interacting with the cooler electrons. While previous test measurements with microcalorimeters at the accelerator facility of GSI were conducted in the mode of well-established stand-alone operation, for the present experiment we implemented several notable modifications to exploit the full potential of this type of detector for precision x-ray spectroscopy of stored heavy ions. Among these are a new readout system compatible with the multi branch system data acquisition platform of GSI, the synchronization of a quasi-continuous energy calibration with the operation cycle of the accelerator facility, as well as the first exploitation of the maXs detectors\u27 time resolution to apply coincidence conditions for the detection of photons and charge-changed ions

Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases.

PurposeTo describe examples of missed pathogenic variants on whole-exome sequencing (WES) and the importance of deep phenotyping for further diagnostic testing.MethodsGuided by phenotypic information, three children with negative WES underwent targeted single-gene testing.ResultsIndividual 1 had a clinical diagnosis consistent with infantile systemic hyalinosis, although WES and a next-generation sequencing (NGS)-based ANTXR2 test were negative. Sanger sequencing of ANTXR2 revealed a homozygous single base pair insertion, previously missed by the WES variant caller software. Individual 2 had neurodevelopmental regression and cerebellar atrophy, with no diagnosis on WES. New clinical findings prompted Sanger sequencing and copy number testing of PLA2G6. A novel homozygous deletion of the noncoding exon 1 (not included in the WES capture kit) was detected, with extension into the promoter, confirming the clinical suspicion of infantile neuroaxonal dystrophy. Individual 3 had progressive ataxia, spasticity, and magnetic resonance image changes of vanishing white matter leukoencephalopathy. An NGS leukodystrophy gene panel and WES showed a heterozygous pathogenic variant in EIF2B5; no deletions/duplications were detected. Sanger sequencing of EIF2B5 showed a frameshift indel, probably missed owing to failure of alignment.ConclusionThese cases illustrate potential pitfalls of WES/NGS testing and the importance of phenotype-guided molecular testing in yielding diagnoses

Integration of maXs-type microcalorimeter detectors for high-resolution x-ray spectroscopy into the experimental environment at the CRYRING@ESR electron cooler

We report on the first integration of novel magnetic microcalorimeter detectors (MMCs), developed within SPARC (Stored Particles Atomic Physics Research Collaboration), into the experimental environment of storage rings at GSI, Darmstadt, namely at the electron cooler of CRYRING@ESR. Two of these detector systems were positioned at the 0∘ and 180∘ view ports of the cooler section to obtain high-resolution x-ray spectra originating from a stored beam of hydrogen-like uranium interacting with the cooler electrons. While previous test measurements with microcalorimeters at the accelerator facility of GSI were conducted in the mode of well-established stand-alone operation, for the present experiment we implemented several notable modifications to exploit the full potential of this type of detector for precision x-ray spectroscopy of stored heavy ions. Among these are a new readout system compatible with the multi branch system data acquisition platform of GSI, the synchronization of a quasi-continuous energy calibration with the operation cycle of the accelerator facility, as well as the first exploitation of the maXs detectors\u27 time resolution to apply coincidence conditions for the detection of photons and charge-changed ions

Approaching the Gamow Window with Stored Ions : Direct Measurement of Xe 124 (p,γ) in the ESR Storage Ring

© 2019 American Physical Society. All rights reserved.We report the first measurement of low-energy proton-capture cross sections of Xe124 in a heavy-ion storage ring. Xe12454+ ions of five different beam energies between 5.5 and 8 AMeV were stored to collide with a windowless hydrogen target. The Cs125 reaction products were directly detected. The interaction energies are located on the high energy tail of the Gamow window for hot, explosive scenarios such as supernovae and x-ray binaries. The results serve as an important test of predicted astrophysical reaction rates in this mass range. Good agreement in the prediction of the astrophysically important proton width at low energy is found, with only a 30% difference between measurement and theory. Larger deviations are found above the neutron emission threshold, where also neutron and γ widths significantly impact the cross sections. The newly established experimental method is a very powerful tool to investigate nuclear reactions on rare ion beams at low center-of-mass energies.Peer reviewedFinal Published versio

High-resolution measurement of the time-modulated orbital electron capture and of the β+\beta^+ decay of hydrogen-like 142^{142}Pm60+^{60+} ions

The periodic time modulations, found recently in the two-body orbital electron-capture (EC) decay of both, hydrogen-like $^{140}$Pr$^{58+}$ and $^{142}$Pm$^{60+}$ ions, with periods near to 7s and amplitudes of about 20%, were re-investigated for the case of $^{142}$Pm$^{60+}$ by using a 245 MHz resonator cavity with a much improved sensitivity and time resolution. We observed that the exponential EC decay is modulated with a period $T = 7.11(11)$s, in accordance with a modulation period $T = 7.12(11)$ s as obtained from simultaneous observations with a capacitive pick-up, employed also in the previous experiments. The modulation amplitudes amount to $a_R = 0.107(24)$ and $a_P = 0.134(27)$ for the 245 MHz resonator and the capacitive pick-up, respectively. These new results corroborate for both detectors {\it exactly} our previous findings of modulation periods near to 7s, though with {\it distinctly smaller} amplitudes. Also the three-body $\beta^+$ decays have been analyzed. For a supposed modulation period near to 7s we found an amplitude $a = 0.027(27)$, compatible with $a = 0$ and in agreement with the preliminary result $a = 0.030(30)$ of our previous experiment. These observations could point at weak interaction as origin of the observed 7s-modulation of the EC decay. Furthermore, the data suggest that interference terms occur in the two-body EC decay, although the neutrinos are not directly observed.Comment: In memoriam of Prof. Paul Kienle, 9 pages, 1 table, 5 figures Phys. Lett. B (2013) onlin

Relativistic quantum dynamics in strong fields: Photon emission from heavy, few-electron ions

Recent progress in the study of the photon emission from highly-charged heavy ions is reviewed. These investigations show that high-$Z$ ions provide a unique tool for improving the understanding of the electron-electron and electron-photon interaction in the presence of strong fields. Apart from the bound-state transitions, which are accurately described in the framework of Quantum Electrodynamics, much information has been obtained also from the radiative capture of (quasi-) free electrons by high-$Z$ ions. Many features in the observed spectra hereby confirm the inherently relativistic behavior of even the simplest compound quantum systems in Nature.Comment: Version 18/11/0

Electromagnetic Confined Plasma Target for Interaction Studies with Intense Laser Fields

The paper describes a novel application of an electron beam ion trap as a plasma target facility for intense laser-plasma interaction studies. The low density plasma target ({approx}10{sup 13}/cm{sup 3}) is confined in a mobile cryogenic electromagnetic charged particle trap, with the magnetic confinement field of 1-3T maintained by a superconducting magnet. Ion plasmas for a large variety of ion species and charge states are produced and maintained within the magnetic field and the space charge of an energetic electron beam in the ''Electron Beam Ion Trap'' (EBIT) geometry. Intense laser beams (optical lasers, x-ray lasers and upcoming ''X-Ray Free Electron Lasers'' (XFEL)) provide strong time varying electromagnetic fields (>10{sup 12} V/cm in femto- to nano-sec pulses) for interactions with electromagnetically confined neutral/non-neutral plasmas. The experiments are aimed to gain understanding of the effects of intense photon fields on ionization/excitation processes, the ionization balance, as well as photon polarization effects. First experimental scenarios and tests with an intense laser that utilize the ion plasma target are outlined