University Clinic of Traumatology

Lithium chloride in vitro treatment shows potential to rescue the neuronal phenotype caused by WDFY3 haploinsufficiency

We provide a comprehensive phenotypic characterization of loss-of-function (LoF) variants in WDFY3 based on the largest cohort reported to date (n = 32). Our findings define a monogenic disorder marked by neuropsychiatric features (including autism and ADHD), mild to moderate neu...

Patient‐reported outcomes and medication errors during oral antitumour therapy in paediatrics: Results from the youngAMBORA care programme

AIM: Increasing use of oral antitumour therapeutics (OAT) in paediatrics is associated with numerous advantages, but also with error-prone aspects. Based on the randomized AMBORA trial including adults treated with various OAT, we developed a tailored pharmacological/pharmaceutic...

SKYSCRAPER-05: A Phase 2 Study of Perioperative Tiragolumab Plus Atezolizumab, With or Without Platinum-Based Chemotherapy, in Patients With Previously Untreated, Locally Advanced, Resectable, Stage II‒IIIB NSCLC.

Introduction: The SKYSCRAPER-05 (NCT04832854), a phase 2, open-label, multicenter study, evaluated perioperative treatment with tiragolumab plus atezolizumab ± platinum-based chemotherapy in treatment-naive patients with resectable, stage II-IIIB NSCLC. Methods: Cohort A (program...

Auditory Cueing in Spatial Neglect: Effects on Visual Search Depend on Auditory Spatial Performance.

Research on spatial neglect predominantly focuses on the visual domain, often conceptualising cross-modal spatial cueing as a potential means to ameliorate visuospatial performance. As spatial neglect can affect multiple sensory modalities, it is unclear how patients with differe...

Baseline Descending Aortic Diameter Drives Long-Term Failure of Conservative Management in Uncomplicated Type B Aortic Dissection.

Objective Failure of conservative management in patients with initially uncomplicated acute type B aortic dissection (TBAAD) remains clinically relevant. This study evaluated whether commonly cited imaging-based morphologic features are associated with long-term failure of conser...

Effects of midazolam and propofol on EEG detection of epileptiform activity in patients with altered consciousness.

Objective Midazolam and propofol are the most frequently used sedative agents in intensive care units (ICU). Their effects on EEG in patients with altered consciousness received limited attention; we aim to assess their effects on diagnostic yield for epileptiform abnormalities.M...

Reconstruction-informed and multidomain deep learning for generalizable CT-free attenuation correction in SPECT myocardial perfusion imaging.

Purpose Deep learning (DL) has shown promise in enabling attenuation correction (AC) for SPECT myocardial perfusion imaging (MPI) without relying on anatomical information or CT-derived attenuation maps (ATMs). We introduce a novel reconstruction-informed and multidomain (RIMD) D...

Optic canal decompression in severe therapy refractory optic neuritis: a case report.

Purpose To describe a unique case of successful optic canal decompression in radiologically confirmed severe optic neuritis involving the optic canal.Observations A 24-year-old woman experienced severe visual loss in the right eye due to retrobulbar optic neuritis (ON), as an ini...

"I make myself very small in my corner": Purposeful Withdrawal as an Expression of Patient Altruism.

Background Altruism definition remains underexamined in end-of-life contexts. In palliative care, altruism may take new forms, especially when originating from patients. Understanding how patients perceive and express altruism is key to supporting their autonomy and sense of mean...

Cerebellar Atrophy in Pediatric-Onset Opsoclonus-Myoclonus-Ataxia Syndrome: A Large International Cohort Study.

Background And Objectives Pediatric-onset opsoclonus-myoclonus-ataxia syndrome (POOMAS) is a rare, neuroinflammatory syndrome that targets the cerebellum and can cause irreversible cerebellar structural changes, namely cerebellar atrophy. We investigated the frequency of cerebell...

Deprescribing of proton pump inhibitors in internal medicine in-patients: A retrospective observational study.

Background Proton pump inhibitors (PPI) treat gastrointestinal disorders and are often overprescribed or continued unnecessarily, despite potential long-term adverse effects (e.g. infections). Deprescribing is recommended when indications are unclear or treatment unnecessarily pr...

Efficacy and safety of risdiplam in patients with type 1 spinal muscular atrophy: a 3-year open-label extension of the two-part, phase 2 FIREFISH trial.

Background FIREFISH was a multicentre, open-label, two-part, phase 2 trial that assessed the safety, tolerability, pharmacokinetics, pharmacodynamics, and efficacy of risdiplam in children with type 1 spinal muscular atrophy and two SMN2 copies, aged 1-7 months at enrolment. Part...

VQ-Wave: A Physics-Driven Spatiotemporal Deep Learning Approach for Noncontrast-Enhanced Lung Ventilation and Perfusion MRI.

Purpose To develop a robust deep learning framework for noncontrast-enhanced functional lung MRI, overcoming the limitations of spectral decomposition in the presence of physiological nonstationarity.Methods We introduce VQ-Wave (Ventilation/Q-perfusion Waveform-based Assessment...

Association of Enlarged Perivascular Spaces and Total Small Vessel Disease Burden With Kidney Function.

Background And Objectives Enlarged perivascular spaces (EPVSs) in the basal ganglia (BG-EPVS) are an important marker of cerebral small vessel disease (cSVD), and EPVS in the centrum semiovale (CSO-EPVS) are part of the diagnostic criteria for cerebral amyloid angiopathy. We aime...

Protocol of the STRIDE-X study: a multicenter, single-arm trial of single tremelimumab regular interval durvalumab followed by hepatectomy for initially unresectable hepatocellular carcinoma

Abstract Background Hepatocellular carcinoma (HCC) ranks as the fifth most common cancer globally and the third leading cause of cancer-related death. Systemic therapies such as lenvatinib or the combination of atezolizumab and bevacizumab has recently emerged as a first-line the...

Association between aldehyde dehydrogenase 4 family member A1 plasma concentrations and atherosclerotic disease in patients with ischemic stroke: Results from the prospective multicenter BIOSIGNAL study.

Background The role of Aldehyde Dehydrogenase 4 Family Member A1 (ALDH4A1) in atherosclerotic disease is unclear. Experimental data suggests a possible involvement in atherogenesis. We investigated the association between circulating ALDH4A1 and atherosclerotic disease outcome me...

Neural signatures of major depression across the episodic memory circuitry.

In major depressive disorder (MDD), episodic memory is compromised and linked to hippocampal dysfunction, yet the underlying neural circuitry remains poorly understood. We examined the circuits supporting episodic memory and assessed its MDD-associated anatomical connectivity fin...

Fluid dynamics-informed CCTA-derived geometric parameters in right coronary artery anomalies predict abnormal invasive Adenosine-FFR and Dobutamine-FFR.

Background Traditional anatomical assessment of stenosis in right anomalous aortic origin of coronary arteries (R-AAOCA) may not capture the complex, eccentrically shaped lumen and its perimeter-dependent resistance, and may therefore underestimate flow limitation. R-AAOCA involv...

Functional Outcomes and Safety of Endovascular Thrombectomy in Pediatric Acute Ischemic Stroke With Cardiac Abnormalities.

Background And Objectives Cardiac abnormalities are among the most common and complex risk factors of pediatric acute ischemic stroke (AIS). Although endovascular treatment (EVT) is increasingly used in children, uncertainty persists regarding its safety and effectiveness in pati...