Klinikum Magdeburg

Prothrombin gene mutations can be associated with either a thrombotic or a bleeding risk. Genomic studies and coagulation workup can provide valuable information to better understand their clinical importance. We describe the case of a woman with a duplication of the entire prothrombin gene. A 42-year-old woman presented for thrombophilia screening following a history of unprovoked arterial and superficial venous thrombotic episodes. Coagulation workup demonstrated a marked increase in prothrombin levels and ex vivo thrombin generation. Genetic analysis revealed a duplication of at least 307.9 kb (maximum 366.7 kb): arr[ChRCh38]:11p11.2(46,455,533-46,763,446)x3, encompassing the entire prothrombin gene and 6 adjacent protein-coding genes (HARBI1, ATG13, ARHGAP1, and ZNF408 completely involved, and AMBRA1 and CKAP5 partially involved). The present case demonstrated duplication of the entire prothrombin gene, associated with a significant hypercoagulable risk, a finding not previously reported in the literature.

Adverse childhood experiences (ACE) have been linked to reduced cognitive functioning in adulthood. This cross-sectional online study refines this picture by including emotional and physical domains of childhood trauma. A total of 262 individuals completed the German version of the Childhood Trauma Questionnaire (CTQ) to operationalize ACE. Sustained attention was measured using the gradual onset Continuous Performance Task (gradCPT). Multivariate linear regressions modeled sustained attention parameters (d', RT, RTCoV, criterion) based on total CTQ score and emotional / physical subscores. Higher CTQ Total Scores predicted lower discrimination performance (d') and increased reaction time variability (RTCoV). No significant effects were found for the emotional and physical trauma subscores. These findings suggest lasting, negative ACE effects on sustained attention in adulthood. Additionally, the fully online design proved to be a reliable method for detecting subtle variations in sustained attention.

BackgroundCognitive fatigue is a prevalent and disabling symptom in neurological and post-viral conditions, including multiple sclerosis (MS) and Long COVID. Assessment relies largely on self-report, and no validated objective biomarker exists, limiting reliable diagnosis and treatment monitoring. The aperiodic exponent of the Electroencephalogram (EEG) power spectrum, reflecting the excitation/inhibition (E/I) balance, is a promising candidate biomarker. We examined whether aperiodic exponent values can objectively identify pathological fatigue and assessed their classification accuracy.MethodsWe conducted a cross-sectional study, including 119 participants: 36 healthy controls, 33 with Long COVID-related fatigue (LCOF), and 50 with MS (23 fatigued and 27 nonfatigued). Resting-state EEGs were analyzed, and associations with fatigue ratings and group differences were assessed. Logistic mixed-effects regression models evaluated classification accuracy for fatigue status.ResultsLower frontal aperiodic exponents were associated with higher cognitive fatigue across participants. Fatigued individuals, regardless of diagnosis, showed reduced frontal exponent values compared with nonfatigued groups, while no differences emerged in occipital regions. Logistic regression confirmed that frontal exponent values significantly predicted fatigue status, improving classification accuracy beyond age and depression, with good sensitivity and specificity.ConclusionsThe frontal aperiodic exponent is a regionally specific biomarker of cognitive fatigue across MS and LCOF. Mechanistic interpretation suggests an altered prefrontal E/I balance, which could inform the development of targeted interventions to alleviate cognitive fatigue. It offers a clinically accessible tool to complement self-report, support trial stratification, and enable objective treatment monitoring. Importantly, its presence across distinct disorders highlights its value as a transdiagnostic marker of fatigue.

We investigated whether the brain age gap (BAG)-the difference between chronological age and age estimated from structural MRI scans-is associated with long-term disease course in affective disorders, using a prospective nine-year follow-up design. T1-weighted MRI data were collected at two time points (mean interval = 8.98 ± 2.20 years) from patients with Major Depressive Disorder (MDD; N = 32), Bipolar Disorder (BD; N = 6), and healthy controls (HC; N = 37) across two sites. Using a brain age prediction model trained on a sample of over 10,000 subjects of the German National Cohort (GNC), we estimated individual BAG at baseline and follow-up using gray matter segments derived from MRI images. Employing linear-mixed-effects models, we tested main effects of diagnosis and hospitalizations as well as their interaction with time on BAG. In an exploratory analysis, we tested if BAG at baseline was predictive of hospitalizations during the nine-year follow-up using logistic regression and 10-fold nested cross-validation. MDD patients showed significantly higher BAG compared to HC (2.27 ± 5.68 vs. 1.00 ± 5.12 years, d = -0.23), while BAG in BD patients was descriptively elevated (4.71 ± 5.40 years). In the Münster subsample (N = 52), patients with at least one hospitalization had higher BAG than those without (4.16 ± 5.74 vs. 1.65 ± 5.41 years, d = -0.45). No group-by-time interaction was observed. Higher BAG at baseline predicted hospitalization during follow-up (p = 0.035), although cross-validated prediction accuracy (64.3%) did not reach significance (p = 0.071). BAG remained stable over time and was not influenced by future recurrence, supporting its role as a potential trait-like marker of vulnerability to illness recurrence. While exploratory, these findings suggest that BAG may capture individual risk for future hospitalization in affective disorders.

The optimal treatment approach for patients with severe atherosclerotic vertebral artery ostial stenosis (VAOS) is not yet supported by evidence from large-scale studies. Even with optimal medical treatment and effective risk factor management, substantial numbers of patients experience symptoms or recurrent strokes. Endovascular treatment is a potential solution, particularly when medicinal therapy alone is insufficient for symptom and stroke risk reduction. This study was aimed at assessing the safety and effectiveness of stent angioplasty in patients with VAOS. This single-centre retrospective analysis included 564 procedures in 525 patients (symptomatic n=265, without recent symptoms n=260; 72.2% male; median age: 70 years; stenosis >75% n=371) who underwent stenting for atherosclerotic VAOS between 2008 and 2022. Vertebrobasilar tandem lesions and dissections were excluded. Digital subtraction angiography was performed in all patients during the follow-up. Patients' characteristics, periprocedural and postprocedural neurological events, and follow-up data were evaluated. Stenting was successfully performed in all cases. The in-hospital stroke rate was 0.6% (disabling n=2; non-disabling n=1). No ipsilateral stroke or treatment-associated deaths occurred during a mean follow-up period of 56 months (min.-max., 9-183 months). In-stent restenosis >50% was found in 89 (15.8%) implanted stents, with the majority (70 out of 89) diagnosed within the first year, at a median time of 7 months. Stent angioplasty was demonstrated to be a safe and feasible option for patients with VAOS, with a low risk of periprocedural stroke and symptom recurrence, and favourable stent patency rates at mid-term and long-term follow-up.

The mycotic aortic aneurysm (MAA) is arare life-threatening condition. Treatment options include open surgical resection (OR) with prosthesis implantation and endovascular aortic repair (EVAR). Presentation of the therapeutic decisions illustrated by clinical case examples and discussion of current references from the medical scientific literature. 1.An emergency resection of a covered ruptured abdominal aortic aneurysm (AAA) in a74-year-old female patient revealed a MAA. Axenograft was implanted. Ultimately, the comorbidities led to death. 2.A79-year-old male patient with a MAA as the focus of aSalmonella sepsis underwent EVAR using implantation of astent graft. Correct graft placement and adequate perfusion were confirmed. On postoperative day7, the patient was discharged with long-term antibiotic therapy. 3.A63-year-old male patient with acovered ruptured AAA and psoas muscle abscess underwent emergency surgery with OR and implantation of axenograft prosthesis. On postoperative day12 the patient was discharged with long-term antibiotic therapy. An analysis of 21studies (2433 patients) showed abetter short-term survival using EVAR (3-month survival, 96% vs.74% for OR) but a higher reinfection rate (42 % vs.18 %). The 5‑year survival rates are similar (EVAR: 57-79.7%, OR: 60%). The most common pathogens were Salmonella (26.3%) and Staphylococcus aureus (13.9%). Blood cultures remained negative in 37.4%. Risk factors are advanced age, male gender and comorbidities. Along-term antibiotic therapy of > 6months improves the outcome. The treatment of MAA requires an individualized approach as both OR and EVAR exhibit similar long-term outcomes but different early complication rates. Long-term antibiotic therapy is essential for an optimal outcome.

Offshore Power-to-X platforms enable flexible conversion of renewable energy, but place high demands on adaptive process control due to volatile operating conditions. To face this challenge, using Digital Twins in Power-to-X platforms is a promising approach. Comprehensive knowledge integration in Digital Twins requires the combination of heterogeneous models and a structured representation of model information. The proposed approach uses a standardized description of behavior models, semantic technologies and a graph-based model understanding to enable automatic adaption and selection of suitable models. It is implemented using a graph-based knowledge representation with Neo4j, automatic data extraction from Asset Administration Shells and port matching to ensure compatible model configurations.