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Abstract The field of noninvasive prenatal diagnosis (NIPD) has undergone significant progress over the last decade. Direct haplotyping has been successfully applied for NIPD of few single-gene disorders. However, technical issues remain for triplet-repeat expansions. The objective of this study was to develop an NIPD approach for couples at risk of transmitting dynamic mutations. This method includes targeted enrichment for linked-read libraries and targeted maternal plasma DNA sequencing. We also developed an innovative Bayesian procedure to integrate the Hoobari fetal genotyping model for inferring the fetal haplotype and the targeted gene variant status. Our method of directly resolving parental haplotypes through targeted linked-read sequencing was smoothly performed using blood samples from families with Huntington’s disease or myotonic dystrophy type 1. The Bayesian analysis of transmission of parental haplotypes allowed defining the genotype of five fetuses. The predicted variant status of four of these fetuses was in agreement with the invasive prenatal diagnosis findings. Conversely, no conclusive result was obtained for the NIPD of fragile X syndrome. Although improvements should be made to achieve clinically acceptable accuracy, our study shows that linked-read sequencing and parental haplotype phasing can be successfully used for NIPD of triplet-repeat expansion diseases. Trial registration: NCT04698551_date of first registration: 07/01/2021.

Abstract Magnetic reconnection is a universal process in space, astrophysical, and laboratory plasmas. It alters magnetic field topology and results in energy release to the plasma. Here we report the experimental results of a pure electron outflow in magnetic reconnection, which is not accompanied with ion flows. By controlling an applied magnetic field in a laser produced plasma, we have constructed an experiment that magnetizes the electrons but not the ions. This allows us to isolate the electron dynamics from the ions. Collective Thomson scattering measurements reveal the electron Alfvénic outflow without ion outflow. The resultant plasmoid and whistler waves are observed with the magnetic induction probe measurements. We observe the unique features of electron-scale magnetic reconnection simultaneously in laser produced plasmas, including global structures, local plasma parameters, magnetic field, and waves.

Abstract Graphene is known as an atomically thin, transparent, highly electrically and thermally conductive, light-weight, and the strongest 2D material. We investigate disruptive application of graphene as a target of laser-driven ion acceleration. We develop large-area suspended graphene (LSG) and by transferring graphene layer by layer we control the thickness with precision down to a single atomic layer. Direct irradiations of the LSG targets generate MeV protons and carbons from sub-relativistic to relativistic laser intensities from low contrast to high contrast conditions without plasma mirror, evidently showing the durability of graphene.

Turbulence effects explored use macroscale systems in general. Here the authors generate a turbulent plasma using laser irradiation of a solid target and study the dynamics of the plasma flow at the micron-scale by using scattering of an XFEL beam.

The interaction between a molecular cloud and an external agent (e.g., a supernova remnant, plasma jet, radiation, or another cloud) is a common phenomenon throughout the Universe and can significantly change the star formation rate within a galaxy. This process leads to fragmentation of the cloud and to its subsequent compression and can, eventually, initiate the gravitational collapse of a stable molecular cloud. It is, however, difficult to study such systems in detail using conventional techniques (numerical simulations and astronomical observations), since complex interactions of flows occur. In this paper, we experimentally investigate the compression of a foam ball by Taylor–Sedov blast waves, as an analog of supernova remnants interacting with a molecular cloud. The formation of a compression wave is observed in the foam ball, indicating the importance of such experiments for understanding how star formation is triggered by external agents.

Abstract Water, methane, and ammonia are commonly considered to be the key components of the interiors of Uranus and Neptune. Modelling the planets’ internal structure, evolution, and dynamo heavily relies on the properties of the complex mixtures with uncertain exact composition in their deep interiors. Therefore, characterising icy mixtures with varying composition at planetary conditions of several hundred gigapascal and a few thousand Kelvin is crucial to improve our understanding of the ice giants. In this work, pure water, a water-ethanol mixture, and a water-ethanol-ammonia “synthetic planetary mixture” (SPM) have been compressed through laser-driven decaying shocks along their principal Hugoniot curves up to 270, 280, and 260 GPa, respectively. Measured temperatures spanned from 4000 to 25000 K, just above the coldest predicted adiabatic Uranus and Neptune profiles (3000–4000 K) but more similar to those predicted by more recent models including a thermal boundary layer (7000–14000 K). The experiments were performed at the GEKKO XII and LULI2000 laser facilities using standard optical diagnostics (Doppler velocimetry and optical pyrometry) to measure the thermodynamic state and the shock-front reflectivity at two different wavelengths. The results show that water and the mixtures undergo a similar compression path under single shock loading in agreement with Density Functional Theory Molecular Dynamics (DFT-MD) calculations using the Linear Mixing Approximation (LMA). On the contrary, their shock-front reflectivities behave differently by what concerns both the onset pressures and the saturation values, with possible impact on planetary dynamos.

Supersonic turbulence is relevant to astrophysical plasmas with their study mostly limited to numerical simulations. Here the authors demonstrate supersonic turbulence in collisional high Mach number plasma jets generated in laboratory by using high power lasers.

Blast-wave-driven hydrodynamic instabilities are studied in the presence of a background B-field through experiments and simulations in the high-energy-density (HED) physics regime. In experiments conducted at the Laboratoire pour l’utilisation des lasers intenses (LULI), a laser-driven shock-tube platform was used to generate a hydrodynamically unstable interface with a prescribed sinusoidal surface perturbation, and short-pulse x-ray radiography was used to characterize the instability growth with and without a 10-T B-field. The LULI experiments were modeled in FLASH using resistive and ideal magnetohydrodynamics (MHD), and comparing the experiments and simulations suggests that the Spitzer model implemented in FLASH is necessary and sufficient for modeling these planar systems. These results suggest insufficient amplification of the seed B-field, due to resistive diffusion, to alter the hydrodynamic behavior. Although the ideal-MHD simulations did not represent the experiments accurately, they suggest that similar HED systems with dynamic plasma-β (=2μ0ρv2/B2) values of less than ∼100 can reduce the growth of blast-wave-driven Rayleigh–Taylor instabilities. These findings validate the resistive-MHD FLASH modeling that is being used to design future experiments for studying B-field effects in HED plasmas.

Abstract High resolution X-ray imaging is crucial for many high energy density physics (HEDP) experiments. Recently developed techniques to improve resolution have, however, come at the cost of a decreased field of view. In this paper, an innovative experimental detector for X-ray imaging in the context of HEDP experiments with high spatial resolution, as well as a large field of view, is presented. The platform is based on coupling an X-ray backligther source with a Lithium Fluoride detector, characterized by its large dynamic range. A spatial resolution of 2 µm over a field of view greater than 2 mm2 is reported. The platform was benchmarked with both an X-ray free electron laser (XFEL) and an X-ray source produced by a short pulse laser. First, using a non-coherent short pulse laser-produced backlighter, reduced penumbra blurring, as a result of the large size of the X-ray source, is shown. Secondly, we demonstrate phase contrast imaging with a fully coherent monochromatic XFEL beam. Modeling of the absorption and phase contrast transmission of X-ray radiation passing through various targets is presented.

Magnetic reconnection is the process of releasing energy by magnetized and space plasma. Here the authors report experimental observation of magnetic reconnection in laser-produced plasma and the role of electron scaling on reconnection.

We present new diagnostics for use in optical laser pump - X-ray Free Electron Laser (XFEL) probe experiments to monitor dimensions, intensity profile and focusability of the XFEL beam and to control initial quality and homogeneity of targets to be driven by optical laser pulse. By developing X-ray imaging, based on the use of an LiF crystal detector, we were able to measure the distribution of energy inside a hard X-ray beam with unprecedented high spatial resolution (∼1 μm) and across a field of view larger than some millimetres. This diagnostic can be used in situ, provides a very high dynamic range, has an extremely limited cost, and is relatively easy to be implemented in pump-probe experiments. The proposed methods were successfully applied in pump-probe experiments at the SPring-8 Angstrom Compact free electron LAser (SACLA) XFEL facility and its potential was demonstrated for current and future High Energy Density Science experiments.

Exploring astrophysical turbulent effects in laboratory plasma is challenging due to high threshold values of relevant parameters, such as the magnetic Reynolds number. Here the authors demonstrate the turbulent dynamo effect at large magnetic Reynolds numbers in laser-generated magnetized plasma.

The periodical change of the Crab nebula’s jet direction challenges our understanding of astrophysical jet dynamics. Here the authors use high-power lasers to create a jet that can be directly compared to the Crab nebula’s, and report the detection of plasma instabilities that mimic kink behaviour.

Stationary radiative shocks are expected to form above the surface of highly-magnetized white dwarves in binary systems, but this cannot be resolved by telescopes. Here, the authors report a laboratory experiment showing the evolution of a reverse shock when both ionization and radiative losses are important.

Background: Screening of aphasia in acute stroke is crucial for directing patients to early language therapy. The Language Screening Test (LAST), originally developed in French, is a validated language screening test that allows detection of a language deficit within a few minutes. The aim of the present study was to develop and validate two parallel German versions of the LAST. Methods: The LAST includes subtests for naming, repetition, automatic speech, and comprehension. For the translation into German, task constructs and psycholinguistic criteria for item selection were identical to the French LAST. A cohort of 101 stroke patients were tested, all of whom were native German speakers. Validation of the LAST was based on (1) analysis of equivalence of the German versions, which was established by administering both versions successively in a subset of patients, (2) internal validity by means of internal consistency analysis, and (3) external validity by comparison with the short version of the Token Test in another subset of patients. Results: The two German versions were equivalent as demonstrated by a high intraclass correlation coefficient of 0.91. Furthermore, an acceptable internal structure of the LAST was found (Cronbach's α = 0.74). A highly significant correlation (r = 0.74, p Conclusion: The German version of the LAST, available in two parallel versions, is a new and valid language screening test in stroke.

Diurnal variations of upper tropospheric humidity (UTH) as well as middle tropospheric humidity (MTH) were examined in conjunction with the diurnal cycle of convection over tropical Africa and the adjacent tropical Atlantic Ocean using Meteosat-8 measurements. Cloud and humidity features were also tracked to document the diurnal variations of humidity and clouds in the Lagrangian framework. A distinct diurnal variation of UTH (and MTH) is noted over regions where tropical deep convective cloud systems are commonly observed. The amplitude of the UTH diurnal variation is larger over land, while its variations over convectively inactive subtropical regions are much smaller. The diurnal variation of UTH tends to reach a maximum during nighttime over land, lagging deep convection and high cloud whose maxima occurred in the late afternoon and evening, respectively. It was revealed that these diurnal variations over the African continent are likely associated with continental-scale daytime solar heating and topography, in which topographically-induced signals develop earlier around the mid-afternoon and merge into stronger and broader continental-scale convection clusters later, forming a precipitation maximum in the late afternoon. It was also revealed that advection effect on the diurnal variation appears to be insignificant.

The chemical composition of PM10 and non-overlapping PM2.5 was studied at the summit of Mt. Chacaltaya (5380 m a.s.l., lat. −16.346950°, long. −68.128250°) providing a unique long-term record spanning from December 2011 to March 2020. The chemical composition of aerosol at the Chacaltaya Global Atmosphere Watch (GAW) site is representative of the regional background, seasonally affected by biomass burning practices and by nearby anthropogenic emissions from the metropolitan area of La Paz–El Alto. Concentration levels are clearly influenced by seasons with minima occurring during the wet season (December to March) and maxima occurring during the dry and transition seasons (April to November). Ions, total carbon (EC + OC), and saccharide interquartile ranges for concentrations are 558–1785, 384–1120, and 4.3–25.5 ng m−3 for bulk PM10 and 917–2308, 519–1175, and 3.9–24.1 ng m−3 for PM2.5, respectively, with most of the aerosol seemingly present in the PM2.5 fraction. Such concentrations are overall lower compared to other high-altitude stations around the globe but higher than Amazonian remote sites (except for OC). For PM10, there is dominance of insoluble mineral matter (33 %–56 % of the mass), organic matter (7 %–34 %), and secondary inorganic aerosol (15 %–26 %). Chemical composition profiles were identified for different origins: EC, NO3-, NH4+, glucose, and C2O42- for the nearby urban and rural areas; OC, EC, NO3-, K+, acetate, formate, levoglucosan, and some F− and Br− for biomass burning; MeSO3-, Na+, Mg2+, K+, and Ca2+ for aged marine emissions from the Pacific Ocean; arabitol, mannitol, and glucose for biogenic emissions; Na+, Ca2+, Mg2+, and K+ for soil dust; and SO42-, F−, and some Cl− for volcanism. Regional biomass burning practices influence the soluble fraction of the aerosol between June and November. The organic fraction is present all year round and has both anthropogenic (biomass burning and other combustion sources) and natural (primary and secondary biogenic emissions) origins, with the OC/EC mass ratio being practically constant all year round (10.5 ± 5.7, IQR 8.1–13.3). Peruvian volcanism has dominated the SO42- concentration since 2014, though it presents strong temporal variability due to the intermittence of the sources and seasonal changes in the transport patterns. These measurements represent some of the first long-term observations of aerosol chemical composition at a continental high-altitude site in the tropical Southern Hemisphere.

The use of biomass for heat production in small scale combustion systems provides an on-site energy supply from renewable resources. Low pollutant emissions as well as heat output on demand are the basic requirements for the application of environmentally friendly and efficient systems. Investigations regarding pollutant formation have been carried out at a micro-scale combustion system with a heat output between 1 and 2 kW. The flue gas composition under different combustion conditions was observed by variation of primary and secondary air supply. In this manner, the combustion with excess and deficient air was investigated amongst others. Beside the occurrence of incomplete oxidized carbon compounds (carbon monoxide, volatile organic compounds) also the influence of the air supply on nitrogen oxide concentration was monitored. The installation allows the integration of catalysts in different temperature zones. Preliminary considerations regarding the operation of the micro-scale system with a catalyst have been carried out.

Abstract Background Opsins are the primary proteins responsible for light detection in animals. Cnidarians (jellyfish, sea anemones, corals) have diverse visual systems that have evolved in parallel with bilaterians (squid, flies, fish) for hundreds of millions of years. Medusozoans (e.g., jellyfish, hydroids) have evolved eyes multiple times, each time independently incorporating distinct opsin orthologs. Anthozoans (e.g., corals, sea anemones,) have diverse light-mediated behaviors and, despite being eyeless, exhibit more extensive opsin duplications than medusozoans. To better understand the evolution of photosensitivity in animals without eyes, we increased anthozoan representation in the phylogeny of animal opsins and investigated the large but poorly characterized opsin family in the sea anemone Nematostella vectensis. Results We analyzed genomic and transcriptomic data from 16 species of cnidarians to generate a large opsin phylogeny (708 sequences) with the largest sampling of anthozoan sequences to date. We identified 29 opsins from N. vectensis (NvOpsins) with high confidence, using transcriptomic and genomic datasets. We found that lineage-specific opsin duplications are common across Cnidaria, with anthozoan lineages exhibiting among the highest numbers of opsins in animals. To establish putative photosensory function of NvOpsins, we identified canonically conserved protein domains and amino acid sequences essential for opsin function in other animal species. We show high sequence diversity among NvOpsins at sites important for photoreception and transduction, suggesting potentially diverse functions. We further examined the spatiotemporal expression of NvOpsins and found both dynamic expression of opsins during embryonic development and sexually dimorphic opsin expression in adults. Conclusions These data show that lineage-specific duplication and divergence has led to expansive diversity of opsins in eyeless cnidarians, suggesting opsins from these animals may exhibit novel biochemical functions. The variable expression patterns of opsins in N. vectensis suggest opsin gene duplications allowed for a radiation of unique sensory cell types with tissue- and stage-specific functions. This diffuse network of distinct sensory cell types could be an adaptive solution for varied sensory tasks experienced in distinct life history stages in Anthozoans.

Background: Early detection of soft tissue sarcoma (STS) recurrence is essential; however, the role and timeline of Magnetic resonance imaging (MRI) surveillance are still under debate. The aim of this study was to determine whether local recurrence (LR) could be identified via clinical examination alone and to assess the MRI morphology of primary STS and LR. Methods: This retrospective study included all patients with STS recurrence after surveillance for at least five years from the tumor database of the Medical University of Vienna from 2000 until December 2023. The characteristics of primary STS and LR and the time interval to recurrence and clinical detectability were assessed. The MRIs of LR and posttherapeutic changes (PTC) were compared with the initial MRIs. Results: A total of 57 patients (60% male; mean age 58.5 ± 18.0 years) with STS and histologically confirmed LR were included. The mean time interval to LR was 2.3 ± 1.8 years (range 108 to 3037 days). The clinically detectable recurrences were significantly larger than the inapparent ones (71.9 cm3 vs. 7.0 cm3; p < 0.01). The MRI morphology of all LRs (26/26) closely resembled the initial STS. For comparison, nine patients were included with clinically suspected LRs, which were histologically proven to be PTC. None of these resembled the primary STS. Conclusion: Based on clinical symptoms alone, especially small and early recurrences can be missed, which supports the importance of MRI surveillance.

Abstract Background Congenital pulmonary airway malformations (CPAMs) are a heterogenous collection of congenital lung malformations, often diagnosed prenatally. The Stocker Type III CPAM is a rare CPAM sub-type, and, when large, may be associated with hydrops. Furthermore, reports of CPAM management which may include surgical resection in extreme preterm infants are limited. Case presentation We report a case of a female neonate born at 28 weeks of gestation with severe respiratory distress and diffuse pulmonary opacification on the right concerning for a large congenital lung lesion. This lesion was not detected on routine antenatal imaging, and she did not have clinical findings of associated hydrops. Her respiratory status improved dramatically after surgical resection of a mass at 12 day of age. The mass was consistent pathologically with a Stocker Type III CPAM. Lung expansion showed subsequent improvement at 16 months of age. Conclusions Our case describes a preterm neonate with severe respiratory distress that was found postnatally to have a large, unilateral congenital lung lesion despite a normal prenatal ultrasound. Additionally, this lesion required excision early in life due to severity of respiratory compromise. This case highlights that rare congenital lung lesions, like this rare sub-type of CPAM, should remain a diagnostic consideration in neonates with severe respiratory distress. Early lung resection for CPAM in preterm infants is not well described and the favorable outcomes of this case help expand perspectives on potential management strategies.

Air ions are the key components for a series of atmospheric physicochemical interactions, such as ion-catalyzed reactions, ion-molecule reactions, and ion-induced new particle formation (NPF). They also control atmospheric electrical properties with effects on global climate. We performed molecular-level measurements of cluster ions at the high-altitude research station Chacaltaya (CHC; 5240 m a.s.l.), located in the Bolivian Andes, from January to May 2018 using an atmospheric-pressure-interface time-of-flight mass spectrometer. The negative ions mainly consisted of (H2SO4)0–3⚫HSO4-, (HNO3)0–2⚫NO3-, SO5-, (NH3)1–6⚫(H2SO4)3–7⚫HSO4-, malonic-acid-derived, and CHO / CHON⚫(HSO4- / NO3-) cluster ions. Their temporal variability exhibited distinct diurnal and seasonal patterns due to the changes in the corresponding neutral species' molecular properties (such as electron affinity and proton affinity) and concentrations resulting from the air masses arriving at CHC from different source regions. The positive ions were mainly composed of protonated amines and organic cluster ions but exhibited no clear diurnal variation. H2SO4–NH3 cluster ions likely contributed to the NPF process, particularly during the wet-to-dry transition period and the dry season, when CHC was more impacted by air masses originating from source regions with elevated SO2 emissions. Our study provides new insights into the chemical composition of atmospheric cluster ions and their role in new particle formation in the high-altitude mountain environment of the Bolivian Andes.

Atmospheric mercury (Hg) observations in the lower free troposphere (LFT) can give important insights into Hg redox chemistry and can help constrain Hg background concentrations on a regional level. Relatively continuous sampling of LFT air, inaccessible to most ground-based stations, can be achieved at high-altitude observatories. However, such high-altitude observatories are rare, especially in the Southern Hemisphere (SH), and atmospheric Hg in the SH LFT is unconstrained. To fill this gap, we continuously measured gaseous elemental mercury (GEM; hourly) and reactive mercury (RM; integrated over ∼ 6–14 d) for 9 months at Maïdo mountain observatory (2160 m a.s.l.) on remote Réunion Island (21.1∘ S, 55.5∘ E) in the tropical Indian Ocean. GEM exhibits a marked diurnal variation characterized by a midday peak (mean: 0.95 ng m−3; SD: 0.08 ng m−3) and a nighttime low (mean: 0.78 ng m−3; SD: 0.11 ng m−3). We find that this diurnal variation is likely driven by the interplay of important GEM photo-reemission from the islands' vegetated surfaces (i.e. vegetation + soil) during daylight hours (8–22 ng m−2 h−1), boundary layer influences during the day, and predominant LFT influences at night. We estimate GEM in the LFT based on nighttime observations in particularly dry air masses and find a notable seasonal variation, with LFT GEM being lowest from December to March (mean 0.66 ng m−3; SD: 0.07 ng m−3) and highest from September to November (mean: 0.79 ng m−3; SD: 0.09 ng m−3). Such a clear GEM seasonality contrasts with the weak seasonal variation reported for the SH marine boundary layer but is in line with modeling results, highlighting the added value of continuous Hg observations in the LFT. Maïdo RM is 10.6 pg m−3 (SD: 5.9 pg m−3) on average, but RM in the cloud-free LFT might be about twice as high, as weekly–biweekly sampled RM observations are likely diluted by low-RM contributions from the boundary layer and clouds.

Key Clinical Message Nonspecific symptoms such as pleuritic or pericardial chest pain in cardiovascular implantable electronic devices patients, even with unremarkable ECG or device parameters, should always raise suspicion of electrode perforation, regardless of how long ago the implantation was performed. Abstract We report the successful percutaneous management of a 77‐year‐old woman who had a dual‐chamber pacemaker implanted more than 1 year ago and presented with pericarditis pain and compensated pericardial hemorrhagic tamponade. The symptoms were due to very late acute perforation of the atrial lead. This report is intended to raise awareness of procedure‐related complications in the large group of cardiovascular implantable electronic device patients. Pleuritic or pericardial pain in these patients should raise suspicion of electrode perforation, as the risk of perforation is not restricted to the period immediately after implantation and a lifelong risk cannot apparently be excluded.

Two strategies to increase battery energy density at the cell level are to increase electrode thickness and to reduce the amount of inactive electrode constituents. All active material (AAM) electrodes provide a route to achieve both of those aims toward high areal capacity electrodes. AAM electrodes are often fabricated using hydraulic compression processes followed by thermal treatment; however, additive manufacturing routes could provide opportunities for more time-efficient and geometry-flexible electrode fabrication. One possible route for additive manufacturing of AAM electrodes would be to employ plasma spray as a direct additive manufacturing technology, and AAM electrode fabrication using plasma spray will be the focus of the work herein. TiO2 and Li4Ti5O12 (LTO) powders were deposited onto stainless steel substrates via plasma spray processing to produce AAM battery electrodes, and evaluated with regards to material and electrochemical properties. The TiO2 electrodes delivered low electrochemical capacity, −1, which was attributed to limitations of the initial feed powder. LTO plasma sprayed AAM electrodes had much higher capacity and were comparable in total capacity at a low rate of discharge to composite electrodes fabricated using the same raw powder feed material. LTO material and electrochemical properties were sensitive to the plasma spray conditions, suggesting that tuning the material microstructure and electrochemical properties is possible by controlling the plasma spray deposition parameters.