We aimed to analyze clinical impacts of the U2AF1 mutation on patients with myelodysplastic syndrome (MDS) and its stability during disease progression. We checked mutation status of the U2AF1 by direct sequencing in 478 de novo MDS patients and correlated with the clinical characteristics and outcomes. We also sequentially analyzed the U2AF1 mutation in 421 samples from 142 patients to determine its stability during the disease courses. Thirty-six patients (7.5%) were found to have U2AF1 mutations, which occurred more frequently in younger patients (P 5 0.033). U2AF1 mutation was an independent poor-risk factor for overall survival (OS) in all patients (P 5 0.030) and younger patients (P 5 0.041). U2AF1 mutation could also predict shorter time-to-leukemia transformation (TTL) in younger patients (P 5 0.020). In addition, U2AF1 mutation was associated with shorter TTL in lower-risk MDS patients. Sequential analyses showed all original U2AF1 mutations in U2AF1-mutated patients were retained during follow-ups unless complete remission was achieved, whereas none of the U2AF1-wild patients acquired a novel mutation during disease evolution. U2AF1 mutation is more prevalent in younger MDS patients and associated with inferior outcomes although it is stable during the clinical course. The mutation may be used as a biomarker for risk stratification. Am. J. Hematol. 88:E277-E282,

Patient: Male, 66Final Diagnosis: Nonbifurcating carotid arterySymptoms: No symptomsMedication: —Clinical Procedure: —Specialty: NeurologyObjective:Congenital defects/diseasesBackground:Vascular anomalies of the carotid vessels can be attributed to false embryogenesis. A rare variant called a nonbifurcating carotid artery (NBCA) exists, where typical carotid bifurcation is not recognizable with its typical branches of the external carotid artery (ECA) and internal carotid artery (ICA). This paper describes a case of this anomaly and reviews the embryogenesis of the carotid arteries for explanation.Case Report:A 66-year-old man received a routine health examination at our hospital. Initial carotid ultrasound indicated an absence of bifurcation in the right cervical carotid artery, and magnetic resonance imaging of the brain indicated an absence of the proximal cervical segment of the right ICA, with a remnant arterial stump at the expected bifurcation level. No evidence of the carotid bulb was identified. The common carotid artery seemed to continue cranially in the trunk of the ECA, where it exhibited extracranial branches. After distributing these branches, the carotid artery coursed medially at the C2 level, where it ascended into the carotid canal to become the petrosal segment of the ICA. This carotid anomaly was labelled an NBCA. No aberrant intracranial arteries were derived from the NBCA in this case.Conclusions:In this case, the arterial stump was considered a remnant from agenesis of the right ICA. We assumed that the NBCA most likely developed because of false regression of the third embryogenic aortic arch with persistence of the second aortic arch.

Background: Clinical and radiological outcomes of endovascular thrombectomy (EVT) are related to etiologies of large vessel occlusion (LVO) in acute stroke. However, preprocedural computed tomography angiography (CTA) or CT perfusion imaging can hardly distinguish embolic occlusion from atherosclerotic occlusion. We hypothesized that quantitative multiphase CTA (mCTA) of LVO may predict occlusion types and thrombectomy outcome. Methods: We retrospectively evaluated the consecutive stroke patients who had undergone mCTA and EVT <6 hours of onset at two independent medical centers. The intra-arterial radiodensities of Hounsfield unit (HU) were measured to examine the HUdistal/proximal ratio using receiver operating characteristic curve analysis. The derived cut-off value was re-examined in an independent cohort. Results: In the derivation cohort (n = 102), 81 patients (79.4%) were embolic occlusion without severe residual intracranial atherosclerotic stenosis (ICAS[−]) and 21 patients were atherosclerosis-related occlusion (ICAS[+]) based on digital subtraction angiography (DSA). The optimal cut-off to predict embolic occlusion was HU ratio <0.6 measured at 2 mm from the occlusion site (maximum area under the curve = 0.87; sensitivity 96%; specificity 81%). This cut-off also independently predicted successful recanalization using stent-retrievers and/or contact aspiration (modified Treatment in Cerebral Ischemia score ≥2b; p = 0.002) after adjusting for age, atrial fibrillation, and collateral circulation score, but not predicted favorable outcome at 3 months post stroke. Importantly, in the validation cohort (n = 95, 80% embolic occlusion), this HU ratio cut-off similarly predicted occlusion types and recanalization outcome, respectively. Conclusion: The mCTA-based quantitative radiodensities of acute LVO provides preprocedural predictive values of DSA-determined occlusion types and thrombectomy outcomes.

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