Evaluation of Lyso-Gb1 as a biomarker for Gaucher disease treatment outcomes using data from the Gaucher Outcome Survey.

Background: Patients with Gaucher disease (GD) require continual monitoring; however, lack of specific disease biomarkers was a significant challenge in the past. Glucosylsphingosine (lyso-Gb1) has been shown to be a reliable, key, specific, and sensitive biomarker for diagnosis, prognosis, and treatment response in clinical studies of patients with GD. We evaluated the change in lyso-Gb1 concentration over time following enzyme replacement therapy in patients with confirmed GD using real-world data from the Gaucher Outcome Survey disease registry.

Periprosthetic femoral fractures in minimally-invasive anterolateral short stem versus transgluteal straight stem cementless total hip arthroplasty: What are the differences in the femoral and pelvic morphology?

Background: The occurrence of periprosthetic femoral fractures (PFFs) in cementless total hip arthroplasty (THA) might be associated with the proximal femoral morphology and the pelvis. PFFs in short stem THA are associated with an increased Canal Flare Index. PFFs in straight stem THA show a decreased Canal Flare Index.

Identification of major trauma using the simplified abbreviated injury scale to estimate the injury severity score: a diagnostic accuracy and validation study.

Background: The Abbreviated Injury Scale (AIS) and Injury Severity Score (ISS) grade the severity of injuries and are useful for trauma audit and benchmarking. However, AIS coding is complex and requires specifically trained staff. A simple yet reliable scoring system is needed.

Construct validity and responsiveness of clinical upper limb measures and sensor-based arm use within the first year after stroke: a longitudinal cohort study.

Background: Construct validity and responsiveness of upper limb outcome measures are essential to interpret motor recovery poststroke. Evaluating the associations between clinical upper limb measures and sensor-based arm use (AU) fosters a coherent understanding of motor recovery. Defining sensor-based AU metrics for intentional upper limb movements could be crucial in mitigating bias from walking-related activities.

Factors involved in the development of hospital-acquired conditions in older patients in acute care settings: a scoping review.

Background: Older patients hospitalized in acute care settings are at significant risk of presenting hospital-acquired conditions. Healthcare professionals should consider many factors involved in the development of such conditions, including factors related to the patients, as well as those related to the processes of care and the structure of hospitals. The aim of this study was to describe and identify the factors involved in the development of hospital-acquired conditions in older patients in acute care settings.

The implementation and side effect management of immune checkpoint inhibitors in gynecologic oncology: a JAGO/NOGGO survey.

Background: The integration of immune checkpoint inhibitors (ICIs) into routine gynecologic cancer treatment requires a thorough understanding of how to manage immune-related adverse events (irAEs) to ensure patient safety. However, reports on real-world clinical experience in the management of ICIs in gynecologic oncology are very limited. The aim of this survey was to provide a real-world overview of the experiences and the current state of irAE management of ICIs in Germany, Switzerland, and Austria.

RNAseq of peripheral blood mononucleated cells exposed to platelet-rich fibrin and enamel matrix derivatives.

Platelet-rich fibrin (PRF) and Enamel Matrix Derivatives (EMD) can support the local regenerative events in periodontal defects. There is reason to suggest that PRF and EMD exert part of their activity by targeting the blood-derived cells accumulating in the early wound healing blastema. However, the impact of PRF and EMD on blood cell response remains to be discovered.

Increased plasma DOPA decarboxylase levels in Lewy body disorders are driven by dopaminergic treatment.

DOPA Decarboxylase (DDC) has been proposed as a cerebrospinal fluid (CSF) biomarker with increased concentrations in Lewy body disorders (LBDs) and highest levels in patients receiving dopaminergic treatment. Here we evaluate plasma DDC, measured by proximity extension assay, and the effect of dopaminergic treatment in three independent LBD (with a focus on dementia with Lewy bodies (DLB) and Parkinson's disease (PD)) cohorts: an autopsy-confirmed cohort (n = 71), a large multicenter, cross-dementia cohort (n = 1498) and a longitudinal cohort with detailed treatment information (n = 66, median follow-up time[IQR] = 4[4, 4] years). Plasma DDC was not altered between different LBDs and other disease groups or controls in absence of treatment.

Quantifying the shift of public export finance from fossil fuels to renewable energy.

By providing guarantees and direct lending, public export credit agencies (ECAs) de-risk and thus enable energy projects worldwide. Despite their importance for global greenhouse gas emission pathways, a systematic assessment of ECAs' role and financing patterns in the low-carbon energy transition is still needed. Using commercial transaction data, here we analyze 921 energy deals backed by ECAs from 31 OECD and non-OECD countries (excluding Canada) between 2013 and 2023.

Exploring imitation of within hand prehensile object manipulation using fMRI and graph theory analysis.

This study aims to establish an imitation task of multi-finger haptics in the context of regular grasping and regrasping processes during activities of daily living. A video guided the 26 healthy, right-handed volunteers through the three phases of the task: (1) fixation of a hand holding a cuboid, (2) observation of the sensori-motor manipulation, (3) imitation of that motor action. fMRI recorded the task; graph analysis of the acquisitions revealed the associated functional cerebral connectivity patterns.

Periapical bone edema volume in 3D MRI is positively correlated with bone architecture changes.

Objectives: To compare and correlate bone edema volume detected by 3D-short-tau-inversion-recovery (STIR) sequence to osseous decay detected by a T1-based sequence and conventional panoramic radiography (OPT).

Materials And Methods: Patients with clinical evidence of apical periodontitis were included retrospectively and received OPT as well as MRI of the viscerocranium including a 3D-STIR and a 3D-T1 gradient echo sequence. Bone edema was visualized using the 3D-STIR sequence and periapical hard tissue changes were evaluated using the 3D-T1 sequence.

Deep learning reconstruction of zero-echo time sequences to improve visualization of osseous structures and associated pathologies in MRI of cervical spine.

Objectives: To determine whether deep learning-based reconstructions of zero-echo-time (ZTE-DL) sequences enhance image quality and bone visualization in cervical spine MRI compared to traditional zero-echo-time (ZTE) techniques, and to assess the added value of ZTE-DL sequences alongside standard cervical spine MRI for comprehensive pathology evaluation.

Methods: In this retrospective study, 52 patients underwent cervical spine MRI using ZTE, ZTE-DL, and T2-weighted 3D sequences on a 1.5-Tesla scanner.

ESR Essentials: imaging of common paediatric pulmonary diseases-practice recommendations by the European Society of Paediatric Radiology.

Chest imaging in children presents unique challenges due to varying requirements across age groups. For chest radiographs, achieving optimal images often involves careful positioning and immobilisation techniques. Antero-posterior projections are easier to obtain in younger children, while lateral decubitus radiographs are sometimes used when expiratory images are difficult to obtain and for free air exclusion.

Photon-counting detector CTA to assess intracranial stents and flow diverters: an in vivo study with ultrahigh-resolution spectral reconstructions.

Background: To define optimal parameters for the evaluation of vessel visibility in intracranial stents (ICS) and flow diverters (FD) using photon-counting detector computed tomography angiography (PCD-CTA) with spectral reconstructions.

Methods: We retrospectively analyzed consecutive patients with implanted ICS or FD, who received a PCD-CTA between April 2023 and March 2024. Polyenergetic, virtual monoenergetic, pure lumen, and iodine reconstructions with different keV levels (40, 60, and 80) and reconstruction kernels (body vascular [Bv]48, Bv56, Bv64, Bv72, and Bv76) were evaluated by two radiologists with regions of interests and Likert scales.

Hallmark discoveries in the biology of non-Wilms tumour childhood kidney cancers.

Approximately 20% of paediatric and adolescent/young adult patients with renal tumours are diagnosed with non-Wilms tumour, a broad heterogeneous group of tumours that includes clear-cell sarcoma of the kidney, congenital mesoblastic nephroma, malignant rhabdoid tumour of the kidney, renal-cell carcinoma, renal medullary carcinoma and other rare histologies. The differential diagnosis of these tumours dates back many decades, when these pathologies were identified initially through clinicopathological observation of entities with outcomes that diverged from Wilms tumour, corroborated with immunohistochemistry and molecular cytogenetics and, subsequently, through next-generation sequencing. These advances enabled near-definitive recognition of different tumours and risk stratification of patients.

C-terminal amides mark proteins for degradation via SCF-FBXO31.

During normal cellular homeostasis, unfolded and mislocalized proteins are recognized and removed, preventing the build-up of toxic byproducts. When protein homeostasis is perturbed during ageing, neurodegeneration or cellular stress, proteins can accumulate several forms of chemical damage through reactive metabolites. Such modifications have been proposed to trigger the selective removal of chemically marked proteins; however, identifying modifications that are sufficient to induce protein degradation has remained challenging.

The Ronne Ice Shelf survived the last interglacial.

The fate of the West Antarctic Ice Sheet (WAIS) is the largest cause of uncertainty in long-term sea-level projections. In the last interglacial (LIG) around 125,000 years ago, data suggest that sea level was several metres higher than today, and required a significant contribution from Antarctic ice loss, with WAIS usually implicated. Antarctica and the Southern Ocean were warmer than today, by amounts comparable to those expected by 2100 under moderate to high future warming scenarios.

The shifting of buffer crop repertoires in pre-industrial north-eastern Europe.

This study explores how major climatic shifts, together with socioeconomic factors over the past two millennia, influenced buffer crop selection, focusing on five crops: rye, millet, buckwheat, oat, and hemp. For this study, we analyzed archaeobotanical data from 135 archaeological contexts and historical data from 242 manor inventories across the northeastern Baltic region, spanning the period from 100 to 1800 AD. Our findings revealed that rye remained a main staple crop throughout the studied periods reflecting environmental adaptation to northern latitudes.

Dimensional structure of the Brief Illness Perception Questionnaire and Association with adverse childhood experiences in patients with an implantable cardioverter-defibrillator.

Illness perceptions (IP), as measured by the Brief Illness Perception Questionnaire (BIPQ), and adverse childhood experiences (ACE) have been shown to affect the physical and psychological well-being in different patient populations. However, little is known about IP and ACE in patients with an implantable cardioverter-defibrillator (ICD). Our objectives were to investigate the dimensional structure and to evaluate correlates of the BIPQ in ICD patients.

Convergent evidence for the temperature-dependent emergence of silicification in terrestrial plants.

Research on silicon (Si) biogeochemistry and its beneficial effects for plants has received significant attention over several decades, but the reasons for the emergence of high-Si plants remain unclear. Here, we combine experimentation, field studies and analysis of existing databases to test the role of temperature on the expression and emergence of silicification in terrestrial plants. We first show that Si is beneficial for rice under high temperature (40 °C), but harmful under low temperature (0 °C), whilst a 2 °C increase results in a 37% increase in leaf Si concentrations.

Gemistocytic tumor cells programmed for glial scarring characterize T cell confinement in IDH-mutant astrocytoma.

Isocitrate dehydrogenase 1/2 mutant (IDHmt) astrocytoma is considered a T cell-deprived tumor, yet little is known regarding the phenotypes underlying T cell exclusion. Using bulk, single nucleus and spatial RNA and protein profiling, we demonstrate that a distinct spatial organization underlies T cell confinement to the perivascular space (T cell cuff) in IDHmt astrocytoma. T cell cuffs are uniquely characterized by a high abundance of gemistocytic tumor cells (GTC) in the surrounding stroma.

Single cell profiling of circulating autoreactive CD4 T cells from patients with autoimmune liver diseases suggests tissue imprinting.

Autoimmune liver diseases (AILD) involve dysregulated CD4 T cell responses against liver self-antigens, but how these autoreactive T cells relate to liver tissue pathology remains unclear. Here we perform single-cell transcriptomic and T cell receptor analyses of circulating, self-antigen-specific CD4 T cells from patients with AILD and identify a subset of liver-autoreactive CD4 T cells with a distinct B-helper transcriptional profile characterized by PD-1, TIGIT and HLA-DR expression. These cells share clonal relationships with expanded intrahepatic T cells and exhibit transcriptional signatures overlapping with tissue-resident T cells in chronically inflamed environments.

The mycobacterial ABC transporter IrtAB employs a membrane-facing crevice for siderophore-mediated iron uptake.

The mycobacterial ABC transporter IrtAB features an ABC exporter fold, yet it imports iron-charged siderophores called mycobactins. Here, we present extensive cryo-EM analyses and DEER measurements, revealing that IrtAB alternates between an inward-facing and an outward-occluded conformation, but does not sample an outward-facing conformation. When IrtAB is locked in its outward-occluded conformation in nanodiscs, mycobactin is bound in the middle of the lipid bilayer at a membrane-facing crevice opening at the heterodimeric interface.