The effect of HLA genotype on disease onset and severity in CTLA-4 insufficiency.

Introduction: Human Cytotoxic-T-lymphocyte-antigen-4 (CTLA-4) insufficiency caused by heterozygous germline mutations in is a complex immune dysregulation and immunodeficiency syndrome presenting with reduced penetrance and variable disease expressivity, suggesting the presence of disease modifiers that trigger the disease onset and severity. Various genetic and non-genetic potential triggers have been analyzed in CTLA-4 insufficiency cohorts, however, none of them have revealed a clear association to the disease. Multiple HLA haplotypes have been positively or negatively associated with various autoimmune diseases and inborn errors of immunity (IEI) due to the relevance of MHC in the strength of the T cell responses.

Potential for reduction of radiation dose in the assessment of the lead orientation in directional deep brain stimulation electrodes.

Purpose: Directional deep brain stimulation (dDBS) relies on electrodes steering the stimulation field in a specific direction. Post implantation, however, the intended and real orientation of the lead frequently deviates e.g.

Signs of in-vivo aging of zirconia from explanted dental implants with porous coating after several years in function.

The present study investigated the in vivo aging of yttria-stabilized zirconia (YSZ) oral implants (ZiUnite®) removed after 37 to 181 months. These implants featured a porous zirconia surface to enhance osseointegration. They were placed in prospective clinical investigations and had to be explanted due to peri-implant bone breakdown.

The Alexithymia Hypothesis of Autism Revisited: Alexithymia Modulates Social Brain Activity During Facial Affect Recognition in Autistic Adults.

Background: Autism Spectrum Disorder (ASD) and alexithymia are both linked to difficulties in facial affect recognition (FAR) alongside differences in social brain activity. According to the Alexithymia Hypothesis, difficulties in emotion processing in ASD can be attributed to increased levels of co-occurring alexithymia. Despite substantial evidence supporting the hypothesis at the behavioral level, the effects of co-occurring alexithymia on brain function during FAR remain unexplored.

Clinical predictors in acute optic neuritis: Analysis based on clinical trial data.

Purpose: To identify baseline clinical predictors of visual outcomes six months after acute optic neuritis using data from our completed clinical neuroprotection trial (TONE study).

Design: Secondary analysis of data from the TONE study cohort (NCT01962571).

Subjects: Total of 103 patients presenting within 10 days of a first episode of acute unilateral optic neuritis as a clinically isolated syndrome with baseline high contrast visual acuity (HCVA) < 20/40 Snellen (logMAR 0.

Prediction of tissue and clinical thrombectomy outcome in acute ischaemic stroke using deep learning.

The advent of endovascular thrombectomy has significantly improved outcomes for stroke patients with intracranial large vessel occlusion, yet individual benefits can vary widely. As demand for thrombectomy rises and geographic disparities in stroke care access persist, there is a growing need for predictive models that quantify individual benefits. However, current imaging methods for estimating outcomes may not fully capture the dynamic nature of cerebral ischemia and lack a patient-specific assessment of thrombectomy benefits.

Primary Antibody Deficiencies: Curation Of Gene-Disease Relationships Using A ClinGen Validation Framework.

Background: The Clinical Genome Resource (ClinGen) is an international collaborative effort between scientists and clinicians, diagnostic and research laboratories as well as the patient community. Using a standardized framework, ClinGen has established guidelines to classify gene-disease relationships as Definitive, Strong, Moderate, and Limited based on available scientific and clinical evidence. When the genetic and functional evidence for a gene-disease relationship has conflicting interpretations or contradictory evidence, they can be Disputed or Refuted.

Cerebrovascular risk in rheumatoid arthritis patients: insights from carotid artery atherosclerosis in the Paracelsus 10,000 study.

Rheumatoid arthritis (RA) is a chronic autoimmune disease marked by systemic inflammation. While RA primarily affects the joints, its systemic effects may lead to an increased cerebro- and cardiovascular risk. Atherosclerosis of the carotid arteries is a significant risk factor for cerebrovascular events and serves as a surrogate marker for cardiovascular risk.

Multinational retrospective analysis of bridging therapy prior to chimeric antigen receptor t cells for relapsed/refractory acute lymphoblastic leukemia in children and young adults.

Anti-CD19 chimeric antigen receptor T cells (CAR) are a well-established treatment option for children and young adults suffering from relapsed/refractory B-lineage acute lymphoblastic leukemia. Bridging therapy is used to control disease prior to start of lymphodepletion before CAR infusion and thereby improve efficacy of CAR therapy. However, the effect of different bridging strategies on outcome, side effects and response to CAR therapy is still poorly understood.

Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.

Genetic diagnosis of rare diseases requires accurate identification and interpretation of genomic variants. Clinical and molecular scientists from 37 expert centers across Europe created the Solve-Rare Diseases Consortium (Solve-RD) resource, encompassing clinical, pedigree and genomic rare-disease data (94.5% exomes, 5.

Video-based Informed Consent in Radiology - Acceptance, Satisfaction, and Effectiveness.

Before any medical procedure, including computed tomography (CT), it is crucial to ensure patients are fully informed about the risks and alternative options. Video-based informed consent offers an increased transfer of information in less time.In a monocentric, prospective, questionnaire-based study, video-based informed consent, which included a digital medical history form, was compared to the traditional paper-based consent form.

Repeat Procedures After Pulsed Field Ablation for Atrial Fibrillation: MANIFEST-REDO Study.

Background: Initial clinical studies of pulsed field ablation (PFA) to treat atrial fibrillation (AF) indicated a >90% durability rate of pulmonary vein isolation (PVI). However, these studies were largely conducted in single centers and involved a limited number of operators. The electrophysiological findings and outcomes in patients undergoing repeat ablation after an initial PF ablation for AF are incompletely understood.

Feasibility of very low iodine dose aortoiliac CT angiography using dual-source photon-counting detector CT.

Purpose: To evaluate the feasibility of aortoiliac CT-Angiography (CTA) using dual-source photon-counting detector (PCD)-CT with minimal iodine dose.

Methods: This IRB-approved, single-center prospective study enrolled patients with indications for aortoiliac CTA from December 2022 to March 2023. All scans were performed using a first-generation dual-source PCD-CT.

Incidence and predictors of weaning failure from veno-arterial extracorporeal membrane oxygenation therapy in patients with cardiogenic shock.

Aims: This study aimed to investigate incidence and predictors of weaning failure and in-hospital death after successful weaning from veno-arterial extracorporeal membrane oxygenation (VA-ECMO) in patients with cardiogenic shock (CS).

Methods And Results: Overall, 685 patients with CS treated with VA-ECMO from 23 tertiary care centres in 7 countries were analysed (median age 57 [interquartile range 49-66] years, 542 [79.1%] male, median lactate 7.

Can PSMA PET detect intratumour heterogeneity in histological PSMA expression of primary prostate cancer? Analysis of [Ga]Ga-PSMA-11 and [F]PSMA-1007.

Purpose: Prostate-specific membrane-antigen positron emission tomography (PSMA PET) is a promising candidate for non-invasive characterization of prostate cancer (PCa). This study evaluated whether PET with tracers [Ga]Ga-PSMA-11 or [F]PSMA-1007 is capable to depict intratumour heterogeneity of histological PSMA expression.

Methods: Thirty-five patients with biopsy-proven primary PCa without evidence of metastatic disease nor prior interventions were prospectively enrolled.

Long-term safety and efficacy of Oleogel-S10 (birch bark extract) in epidermolysis bullosa: 24-month results from the Phase III EASE Study.

Background: Epidermolysis bullosa (EB) is a group of rare, severe, genetic disorders characterised by persistent skin fragility and open wounds. EB manifests as cutaneous and mucosal blistering, erosions and impaired wound healing.

Objectives: To determine the long-term efficacy, tolerability and safety of Oleogel-S10 (birch bark extract) in dystrophic (DEB) and junctional (JEB) EB in the 24-months open-label phase (OLP) of the EASE study.

Safety and efficiency of trainees performing bilateral internal thoracic artery coronary bypass grafting using the T-graft technique.

Objectives: Aim of this study was to assess safety and efficiency of multiarterial coronary bypass grafting using bilateral internal thoracic arteries in T-graft technique performed by trainees.

Methods: Patients from January 2005 to February 2023 who had undergone multiarterial coronary bypass grafting using bilateral internal thoracic arteries in T-graft technique were analysed. Patients were divided into two groups based on the primary surgeon: Consultant and Trainees.

Empowering personalized oncology: evolution of digital support and visualization tools for molecular tumor boards.

Background: Molecular tumor boards (MTBs) play a pivotal role in personalized oncology, leveraging complex data sets to tailor therapy for cancer patients. The integration of digital support and visualization tools is essential in this rapidly evolving field facing fast-growing data and changing clinical processes. This study addresses the gap in understanding the evolution of software and visualization needs within MTBs and evaluates the current state of digital support.

Postoperative pancreatic fistula risk assessment using digital pathology based analyses at the parenchymal resection margin of the pancreas - Results from the randomized multicenter RECOPANC trial.

Background: In pancreatic surgery Postoperative pancreatic fistula (POPF) represents the most dreaded complication, for which pancreatic texture is acknowledged as one of the strongest predictors. No consensual objective reference has been defined to evaluate the pancreas composition. The presented study aimed to mine histology data of the pancreatic tissue composition with AI assist and correlate it with clinic-pathological parameters derived from the RECOPANC study.

Reduced Theta Inter-Trial Phase Coherence in Error Processing: A Marker of Neural Dysfunction in Attention Deficit Hyperactivity Disorder.

Cognitive control deficits and increased intra-subject variability have been well established as core characteristics of attention deficit hyperactivity disorder (ADHD), and there is a growing interest in their expression at the neural level. We aimed to study neural variability in ADHD, as reflected in theta inter-trial phase coherence (ITC) during error processing, a process that involves cognitive control. We examined both traditional event-related potential (ERP) measures of error processing (i.

Impact of myelodysplasia-related and additional gene mutations in intensively treated patients with -mutated AML.

This study aimed to evaluate the impact of the myelodysplasia-related gene (MRG) as well as additional gene mutations on outcomes in intensively treated patients with -mutated ( ) AML. Targeted DNA sequencing of 263 genes was performed in 568 AML patients (median age: 59 years) entered into the prospective AMLSG 09-09 treatment trial. Most commonly co-mutated genes were (49.

Impact of acute and chronic exposure to sulfamethoxazole on the kinetics and microbial structure of an activated sludge community.

The aim of this study was to reveal the microbial and kinetic impacts of acute and chronic exposure to one of the frequently administered antibiotics, i.e., sulfamethoxazole, on an activated sludge biomass.

Resolving tissue complexity by multimodal spatial omics modeling with MISO.

Spatial molecular profiling has provided biomedical researchers valuable opportunities to better understand the relationship between cellular localization and tissue function. Effectively modeling multimodal spatial omics data is crucial for understanding tissue complexity and underlying biology. Furthermore, improvements in spatial resolution have led to the advent of technologies that can generate spatial molecular data with subcellular resolution, requiring the development of computationally efficient methods that can handle the resulting large-scale datasets.