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PurposeEvidence regarding the effect of mechanical thrombectomy (MT) of basilar artery occlusion (BAO) stroke is yet sparse. As successful recanalization has been suggested as major determinant of outcome, the early identification of modifiable factors associated with successful recanalization could be of importance to improve functional outcome. Hyperglycemia has been associated with enhanced thrombin generation and unfavorably altered clot features.ObjectiveWe hypothesized that serum baseline glucose is associated with likelihood of vessel recanalization mediated by collateral quality and clot burden in BAO stroke.MethodsBAO stroke patients who received multimodal CT on admission were analyzed. The association of vessel recanalization defined using modified Thrombolysis in cerebral infarction scale (mTICI) scores 2b-3, and baseline imaging and clinical parameters were tested in logistic regression analyses. Collateral quality and clot burden were evaluated using the Basilar Artery on CT-Angiography (BATMAN) score.ResultsOut of 117 BAO patients, 91 patients (78%) underwent MT. In 70 patients (77%), successful recanalization could be achieved (mTICI 2b/3). In multivariable logistic regression analysis, only a higher BGL (aOR 0.97, 95% CI 0.96–0.99, p = 0.03) and higher BATMAN score (aOR 1.77, 95% CI 1.11–2.82, p = 0.02) were independently associated with vessel recanalization. Application of alteplase, or time from symptom onset-imaging revealed no independent association with recanalization status.ConclusionHigher BGL was significantly associated with reduced likelihood for recanalization success besides BATMAN score as a measure of collateral quality and clot burden. BGL could be tested as a modifiable parameter to increase likelihood for recanalization in BAO stroke, aiming to improve functional outcome.

Background Congenital cytomegalovirus (cCMV) infection is considered one of the most common infectious pathologies in neonates, showing a wide range of clinical manifestations, ranging from completely asymptomatic to critically ill newborns. Primary infection during the first trimester of pregnancy carries the highest risk of severe fetal involvement. However, the majority of infected fetuses show an asymptomatic or mild course of disease. The most common long-term sequela is sensorineural hearing loss, which is detected in only about 50% of affected children during newborn hearing screenings. Furthermore, epidemiological data on disease burden remain limited and show considerable variability. The aim of this study was to investigate the prevalence of cCMV and its associated disease burden at follow-up, particular sensorineural hearing loss, in a population-based birth cohort. Results We conducted a retrospective analysis for cCMV in n  = 1995 newborns using urine and plasma biosamples from the second baseline cohort of the Survey of Neonates in Pomerania (SNiP-II). Four participants (prevalence rate 0.2%) were tested positive. Two of these cases had already been identified shortly after birth, having been screened for cCMV due to clinical suspicion. The seroprevalence of IgG antibodies among pregnant women was 47.6%. For follow-up, the patient database of our Department of Otolaryngology, Head and Neck Surgery (ENT) was reviewed for hearing pathologies in all children born during the SNiP-II recruitment period (2013–2017). Twelve out of n  = 1138 SNiP-II participants (1.1%) showed confirmed sensorineural hearing loss (SNHL), none of which were associated with cCMV. A complete clinical follow-up of the cCMV-positive cases revealed no sequelae related to the infection. Conclusions By using a population-based retrospective analysis approach, we demonstrated a very low prevalence and disease burden of cCMV in our region. Our data supports the current guideline recommendations of a risk factor-based screening strategy.

Individuals with ultrarare disorders pose a structural challenge for healthcare systems since expert clinical knowledge is required to establish diagnoses. In TRANSLATE NAMSE, a 3-year prospective study, we evaluated a novel diagnostic concept based on multidisciplinary expertise in Germany. Here we present the systematic investigation of the phenotypic and molecular genetic data of 1,577 patients who had undergone exome sequencing and were partially analyzed with next-generation phenotyping approaches. Molecular genetic diagnoses were established in 32% of the patients totaling 370 distinct molecular genetic causes, most with prevalence below 1:50,000. During the diagnostic process, 34 novel and 23 candidate genotype–phenotype associations were identified, mainly in individuals with neurodevelopmental disorders. Sequencing data of the subcohort that consented to computer-assisted analysis of their facial images with GestaltMatcher could be prioritized more efficiently compared with approaches based solely on clinical features and molecular scores. Our study demonstrates the synergy of using next-generation sequencing and phenotyping for diagnosing ultrarare diseases in routine healthcare and discovering novel etiologies by multidisciplinary teams. Exome sequencing within a structured diagnostic process for rare diseases in Germany shows how facial image analysis and machine learning can guide variant prioritization and uncover many ultrarare diseases.

Hintergrund: In recent studies, magnetic resonance imaging (MRI) has been used to estimate lesion age in patients with wake-up stroke to enable thrombolytic therapy. However, MRI has a limited availability and feasibility, and is more time-consuming in the acute situation. As ischemic changes of the cerebral parenchyma can be detected on non-contrast enhanced computed tomography (NECT), we hypothesized that in direct comparison of the two modalities, NECT is equally sensitive and specific than MRI in identifying patients with lesion age <4.5 hours from symptom onset. Methoden: 41 patients with acute anterior circulation stroke were analyzed with both imaging modalities at admission. Mismatch between diffusion-weighted MRI (DWI) and fluid-attenuated inversion recovery (FLAIR) was diagnosed by consensus reading according to the criteria of the WAKE-UP trial. NECT were analyzed for signs of ischemic parenchymal changes (loss of grey-white matter differentiation, hypoattenuation of deep nuclei, cortical hypodensity with associated parenchymal swelling and gyral effacement), in a blinded approach by two experienced neuroradiologists. If ischemic parenchymal changes were detected, the patients were assigned to the group of >4.5 hours from onset and vice versa. Ergebnisse: In 17 patients, the time from symptom onset to CT imaging was <4.5 h and 24 patients presented >4.5 h (range: 0.5-7.6 h). The median time from CT to MRI was 36 minutes (IQR: 24-55). DWIFLAIR mismatch correctly assigned 28/41 patients (68%) with a sensitivity of 70% (95%CI: 51-85%) and specificity of 72% (95%CI: 4790%). NECT analysis correctly assigned 30/41 (75%) with a sensitivity of 72% (95%CI: 69-91%) and specificity of 79% (95%CI: 53-90%). Fazit: In this cohort, analysis of NECT was comparable to DWIFLAIR mismatch in identifying patients within thrombolysis time window. Thus, future trials and a larger patient cohort are needed to investigate if NECT can be used to stratify wake-up stroke instead of MRI.

Purpose The pediatric intensive care unit admissions (PIA) network was initiated to interconnect pediatric intensive care units (PICUs) and establish a research infrastructure for pediatric intensive care in Germany. The primary aim is to collect data on pediatric critical illness to answer clinical and epidemiological research questions. Secondary goals are the implementation of quality indicators to allow benchmarking for German PICUs. Methods PIA is a hospital-based, pediatric intensive care registry. Patients admitted to a PICU with a corrected gestational age of ≥ 28 days and > 41 + 0 weeks are eligible for a basic survey; a more detailed survey is conducted for patients under 18 years with a PICU stay of more than 48 h or for patients who died within 48 h. Results We report on the first results from 8196 patients admitted from 05/2023–12/2024 from 23 PICUs. 65.03% of admissions were non-elective. 2895 (35.32%) children were eligible for the detailed survey. Emergency re-admissions within 24 h of discharge were 0.90%. Children < 5 years of age accounted for 49.44% of all admissions. The leading symptoms for PICU admissions were mainly of respiratory nature (38.41%), with 55.20% of children receiving respiratory support within the first hour of admission. During PICU stay, 68.70% received respiratory support, 38.89% cardiovascular support and 49.53% of children required sedation. The mortality rate was 1.85%. Conclusion The findings presented here and future findings from the PIA network will allow data comparison, disease surveillance and benchmarking and help advance intensive care research and clinical care of critically ill children.