Case report: Susac syndrome-two ends of the spectrum, single center case reports and review of the literature.

Susac syndrome is a rare and enigmatic complex neurological disorder primarily affecting small blood vessels in the brain, retina, and inner ear. Diagnosing Susac syndrome may be extremely challenging not only due to its rarity, but also due to the variability of its clinical presentation. This paper describes two vastly different cases-one with mild symptoms and good response to therapy, the other with severe, complicated course, relapses and long-term sequelae despite multiple therapeutic interventions. Building upon the available guidelines, we highlight the utility of black blood MRI in this disease and provide a comprehensive review of available clinical experience in clinical presentation, diagnosis and therapy of this disease. Despite its rarity, the awareness of Susac syndrome may be of uttermost importance since it ultimately is a treatable condition. If diagnosed in a timely manner, early intervention can substantially improve the outcomes of our patients.

Safety and Efficacy of Baseline Antiplatelet Treatment in Patients Undergoing Mechanical Thrombectomy for Ischemic Stroke: Antiplatelets Before Mechanical Thrombectomy.

PURPOSE: To investigate the safety and efficacy of baseline antiplatelet treatment in patients with acute ischemic stroke (AIS) undergoing mechanical thrombectomy (MT). MATERIALS AND METHODS: Baseline use of antiplatelet medication before MT for (AIS) may provide benefit on reperfusion and clinical outcome but could also carry an increased risk of intracranial hemorrhage (ICH). All consecutive patients with AIS and treated with MT with and without intravenous thrombolysis (IVT) between January 2012 and December 2019 in all centers performing MT nationwide were reviewed. Data were prospectively collected in national registries (eg, SITS-TBY and RES-Q). Primary outcome was functional independence (modified Rankin Scale 0-2) at 3 months; secondary outcome was ICH. RESULTS: Of the 4,351 patients who underwent MT, 1,750 (40%) and 666 (15%) were excluded owing to missing data from the functional independence and ICH outcome cohorts, respectively. In the functional independence cohort (n = 2,601), 771 (30%) patients received antiplatelets before MT. Favorable outcome did not differ in any antiplatelet, aspirin, and clopidogrel groups when compared with that in the no-antiplatelet group: odds ratio (OR), 1.00 (95% CI, 0.84-1.20); OR, 1.05 (95% CI, 0.86-1.27); and OR, 0.88 (95% CI, 0.55-1.41), respectively. In the ICH cohort (n = 3,685), 1095 (30%) patients received antiplatelets before MT. The rates of ICH did not increase in any treatment options (any antiplatelet, aspirin, clopidogrel, and dual antiplatelet groups) when compared with those in the no-antiplatelet group: OR, 1.03 (95% CI, 0.87-1.21); OR, 0.99 (95% CI, 0.83-1.18); OR, 1.10 (95% CI, 0.82-1.47); and OR, 1.43 (95% CI, 0.87-2.33), respectively. CONCLUSIONS: Antiplatelet monotherapy before MT did not improve functional independence or increase the risk of ICH.

Innovated single flush on-line solid-phase extraction in bead injection format for flow programming-based determination of creatinine in human urine.

Reaction-based assays are commonly automated and miniaturized via flow analysis. However, aggressive reagents can affect or destroy even the chemically resistant manifold during long-term use. Using on-line solid-phase extraction (SPE) can eliminate this drawback and allow for high reproducibility and further advanced automation, as presented in this work. Determination of creatinine in human urine, an important clinical marker, by sequential injection analysis was achieved using bead injection on-line SPE with specific UV spectrophotometric detection, providing the necessary sensitivity and selectivity of the method for bioanalysis. The automated SPE column packing and disposal, calibration, and fast measurement highlighted the improvements in our approach. Variable sample volumes and a single working standard solution eliminated matrix effects, broadened the calibration range, and accelerated the quantification. Our method comprised an injection of 20 µL of 100 × times diluted urine with aqueous acetic acid solution pH 2.4, sorption of creatinine in a strong cation exchanger SPE column, washing out urine matrix with 50% aqueous acetonitrile, and elution of creatinine with 1% ammonium hydroxide. The SPE step was accelerated by a single flush of the column when the eluent/matrix wash/sample/standard zones sequence was created in the pump holding coil, and then the sequence of the zones was flushed into the column at once. The whole process was continually spectrophotometrically detected at 235 nm, subtracted from the signal at 270 nm. A single run duration was less than 3.5 min. Method relative standard deviation was <5.0% (n = 6). A calibration range was linear within the range of 0.02-0.30 µg creatinine (R > 0.999), covering 1.0-15.0 mmol/L creatinine in urine. The standard addition method used two different volumes of a single working standard solution for quantification. Results proved the effectiveness of our improvements in the flow manifold, bead injection, and automated quantification. The accuracy of our method was comparable to the routine enzymatic assay of real urine samples in a clinical laboratory.

Between-Center Variation in Outcome After Endovascular Treatment of Acute Stroke: Analysis of Two Nationwide Registries.

BACKGROUND: Insight in differences in patient outcomes between endovascular thrombectomy (EVT) centers can help to improve stroke care. We assessed between-center variation in functional outcome of patients with acute ischemic stroke who were treated with EVT. We analyzed to what extent this variation may be explained by modifiable center characteristics. METHODS: We used nationwide registry data of patients with stroke treated with EVT in the Netherlands and in the Czech Republic. Primary outcome was modified Rankin Scale score at 90 days as an indicator of disability. We used multilevel ordinal logistic regression to quantify the between-center variation in outcomes and the impact of patient and center characteristics. Between-center variation was expressed as the relative difference in odds of a more favorable modified Rankin Scale score between a relatively better performing center (75th percentile) and a relatively worse performing center (25th percentile). RESULTS: We included a total of 4518 patients treated in 33 centers. Adjusted for patient characteristics, the odds of a more favorable outcome in a center at the 75th percentile of the outcome distribution were 1.46 times higher (95% CI, 1.31-1.70) than the odds in a center at the 25th percentile. Adjustment for center characteristics, including the median time between stroke onset and reperfusion per center, decreased this relative difference in odds to 1.30 (95% CI, 1.18-1.50, P=0.01). This translates into an absolute difference in likelihood of good functional outcome of 8% after adjustment for patient characteristics and to 5% after further adjustment for modifiable center characteristics. CONCLUSIONS: The considerable between-center variation in patient outcomes after EVT for acute ischemic stroke could be largely explained by center-specific characteristics, such as time to reperfusion. Improvement of these parameters may likely result in a decrease in center-specific differences, and an overall improvement in outcome of patients with acute ischemic stroke.

Detection of ischemic changes on baseline multimodal computed tomography: expert reading vs. Brainomix and RAPID software.

PURPOSE: The aim of the study was to compare the assessment of ischemic changes by expert reading and available automated software for non-contrast CT (NCCT) and CT perfusion on baseline multimodal imaging and demonstrate the accuracy for the final infarct prediction. METHODS: Early ischemic changes were measured by ASPECTS on the baseline neuroimaging of consecutive patients with anterior circulation ischemic stroke. The presence of early ischemic changes was assessed a) on NCCT by two experienced raters, b) on NCCT by e-ASPECTS, and c) visually on derived CT perfusion maps (CBF<30%, Tmax>10s). Accuracy was calculated by comparing presence of final ischemic changes on 24-hour follow-up for each ASPECTS region and expressed as sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV). The subanalysis for patients with successful recanalization was conducted. RESULTS: Of 263 patients, 81 fulfilled inclusion criteria. Median baseline ASPECTS was 9 for all tested modalities. Accuracy was 0.76 for e-ASPECTS, 0.79 for consensus, 0.82 for CBF<30%, 0.80 for Tmax>10s. e-ASPECTS, consensus, CBF<30%, and Tmax>10s had sensitivity 0.41, 0.46, 0.49, 0.57, respectively; specificity 0.91, 0.93, 0.95, 0.91, respectively; PPV 0.66, 0.75, 0.82, 0.73, respectively; NPV 0.78, 0.80, 0.82, 0.83, respectively. Results did not differ in patients with and without successful recanalization. CONCLUSION: This study demonstrated high accuracy for the assessment of ischemic changes by different CT modalities with the best accuracy for CBF<30% and Tmax>10s. The use of automated software has a potential to improve the detection of ischemic changes.

"Stress entropic load" as a transgenerational epigenetic response trigger.

Epigenetic changes are generally based on the switching of alternative functional or structural states and result in the adaptation of cellular expression patterns during proliferation, differentiation or plastic changes in the adult organism, whereas some epigenetic information can be passed on other generations while other is not. Hence, the principal question is: why is some information reset or resolved during the meiosis process and other is passed from one generation to another, or, in other words: what "adaptation trigger" level initiates transgenerationally transmitted epigenome change? Hereto, we propose a theory which states that stress, or, more specifically, the energy cost of an individual's adaptation to stress, represents a viable candidate for the transgenerational transmission trigger of a given acquired trait. It has been reported recently that the higher lifetime entropy generation of a unit's body mass, the higher the entropy stress level (which is a measure of energy released by a unit's organ mass) and the irreversibility within the organ, resulting in faster organ degradation and consequent health problems for the entire biological system. We therefore suggest a new term: "stress entropic load" will reflect the actual energetic cost of an individual's adaptation and may be used to estimate the probability of inducing transgenerational response once characterized or measured.

MicroRNAs involved in skeletal muscle development and their roles in rhabdomyosarcoma pathogenesis.

MicroRNAs (miRs) are small non-coding RNAs known to fulfill various functions in tissue development, function, and pathogenesis of various diseases, including cancer. Rhabdomyosarcoma (RMS) represents the most common soft tissue tumor in the pediatric population. miRs have been shown to play important roles in RMS pathogenesis and some of the studies suggest their potential as diagnostic, prognostic, and even therapeutic tools facilitating better management of this disease. This review summarizes current information about the role of miRs in the development of normal skeletal muscle and their deregulation in RMS.