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Patients with intracranial arteriovenous shunt(s) have a risk of intracerebral hemorrhage (ICH). We investigated the signal intensity of draining veins on susceptibility-weighted imaging (SWI) and the status of venous drainage shown by digital subtraction angiography (DSA). We then evaluated whether the signal intensity of draining veins on SWI is related to normal venous flow (NVF) and/or ICH. We analyzed SWI and DSA in 10 consecutive patients with intracranial arteriovenous shunt(s). Opacification of draining veins in the normal venous phase by DSA was judged as NVF. We evaluated the relationship between the intensity of draining veins on SWI and the presence of NVF before and after treatment. The relationship between the intensity of draining veins on SWI and the presence of ICH surrounding the draining veins was also evaluated. Of 10 patients with untreated arteriovenous shunt(s), two had arteriovenous malformation and eight had a dural arteriovenous fistula with cortical venous reflux. We analyzed 26 draining veins before treatment. In preoperative analysis, draining veins with hypointensity were significantly more likely to show NVF than were draining veins with isointensity or hyperintensity (45.5% vs. 0.0%, P = 0.007). While 69.2% of the areas surrounding draining veins with isointensity or hyperintensity showed ICH, no veins with hypointensity showed ICH (P = 0.011, odds ratio 0.036; 95% confidence interval 0.0017-0.80). In conclusion, draining veins with hypointensity on SWI may contain NVF, despite arteriovenous shunting. The areas surrounding these veins might have a lower risk of ICH because of less venous hypertension., Competing Interests: Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2020 Elsevier Ltd. All rights reserved.)

Background: A mobile carotid plaque can be detected by duplex ultrasonography and is a high-risk factor for embolic stroke., Case Description: We herein present a case involving an 80-year-old man with an asymptomatic carotid floating flap diagnosed by duplex ultrasonography and treated with carotid endarterectomy. Intraoperatively, an ulceration was found immediately proximal to the neck of the floating flap, and the shape and size of the ulceration were quite similar to those of the floating flap. In a histopathologic examination of the specimen resected by carotid endarterectomy, the plaque lacked the internal elastic lamina (IEL) at the ulceration, calcification was observed in the plaque and medial layer at the ulceration, and the floating flap consisted of the IEL accompanied by calcification, fibrin, and foamy cells., Conclusions: Progression of the atheroma and Mönckeberg sclerosis might have affected disruption of the IEL, causing the IEL to finally peel off. A floating intimal flap accompanied by an atheroma without intraplaque hemorrhage is a rare cause of mobile plaque formation. This type of mobile plaque might not be dissolved by medical treatment alone. In such cases, surgical treatment is a suitable therapeutic choice to prevent stroke., (Copyright © 2018 Elsevier Inc. All rights reserved.)

Background: Mechanical thrombectomy improves functional outcomes in patients with acute ischemic stroke. However, stent retrievers have the risk of vascular damage., Case Description: We present 2 cases of patients with acute internal carotid artery occlusion who experienced removal of the intima by a stent retriever. In both patients, a 6 × 30-mm Solitaire stent was fully deployed from the M2 portion and slowly withdrawn. White membranes were retrieved outside the strut in both patients. Histopathologic examination showed that one membrane consisted of thickened intima and internal elastic lamina and the other consisted of calcified intima and internal elastic lamina. One patient who suffered embolic stroke experienced recurrent infarction within 24 hours after operation, and the damaged vessel was occluded on magnetic resonance angiography 21 days after stroke. In another patient with carotid artery dissection, the damaged vessel showed asymptomatic stenosis on magnetic resonance angiography 90 days after stroke. Arteries with both atherosclerosis and vessel dissection may be vulnerable to high radial expansion force., Conclusions: Full deployment of a relatively large-sized stent into a vulnerable vessel may cause vessel dissection after removal of the intima. Appropriate material selection and treatment strategy while considering stroke etiology and the occlusion site are important to prevent vessel damage., (Copyright © 2018 Elsevier Inc. All rights reserved.)

Background: Severe complications after reperfusion therapy for acute major vessel occlusion are not well described. We present an extremely rare case of a patient with rapid malignant brain swelling subacutely after acute ischemic stroke., Case Description: An 84-year-old man underwent reperfusion therapy for acute left internal carotid artery occlusion; complete reperfusion was achieved. Although magnetic resonance imaging on postoperative day 1 revealed a small hemorrhagic infarction and subarachnoid hemorrhage unrelated to a left middle cerebral artery aneurysm in the left frontal lobe, neurologic deficits resolved completely. On postoperative day 5, the patient developed a fever and sudden disorder of consciousness with right hemiparesis. Urosepsis was diagnosed, and computed tomography revealed massive hemorrhagic infarction in the left frontal lobe and diffuse subarachnoid hemorrhage. Emergent hematoma evacuation and clipping were performed. Although the aneurysm was unruptured, brain swelling was severe despite a patent middle cerebral artery. Computed tomography performed immediately postoperatively (within 6 hours after preoperative computed tomography) showed severe left brain swelling with midline shift. The patient died on postoperative day 15., Conclusions: This case has similarities to both second-impact syndrome after head trauma and perfusion breakthrough phenomenon. Initial ischemic damage following reperfusion therapy and damage secondary to sepsis and subarachnoid hemorrhage may have led to rapid malignant brain swelling in this patient. Careful management is important for patients receiving reperfusion therapy., (Copyright © 2018 Elsevier Inc. All rights reserved.)

Background: The aim of this study was to identify whether subacute diffusion-weighted imaging (DWI) lesion volume could predict long-term outcome in patients who had undergone intravenous thrombolysis., Method: Patients underwent DWI at baseline and 7days after thrombolysis. Outcomes included complete independence (modified Rankin scale [mRS] score 0 to 1), unfavorable outcome (mRS score 4 to 6) at 90days, and mortality within 90days. Multivariate logistic regression analysis was used to identify outcome predictors., Results: Of 164 patients, 72 patients (43%) achieved complete independence. Poor outcomes were observed in 45 patients (27%) with an unfavorable outcome and 10 patients (6%) who died. Subacute DWI lesion volume was 3.4mL (interquartile range, 1.1-11.6) in patients with complete independence, 90.1mL (23.8-180.2) in patients with unfavorable outcome and 155.5mL (78.4-377.5) in patients who died. In multivariate logistic regression analysis, subacute DWI lesion volume was an independent predictor of complete independence (odds ratio [OR], 0.939; 95% confidence interval [CI], 0.914-0.965; p<0.001), unfavorable outcome (OR, 1.023; 95% CI, 1.014-1.033; p<0.001), and mortality (OR, 1.016; 95% CI, 1.005-1.028; p=0.005)., Conclusion: Subacute DWI lesion volume is a critical determinant of 90-day functional outcome and mortality after thrombolysis., (Copyright © 2016 Elsevier B.V. All rights reserved.)

Background: The aim of this study was to identify whether diastolic dysfunction predicts in-hospital death in ischemic stroke patients with atrial fibrillation., Method: We retrospectively analyzed data from enrolled patients with ischemic stroke patients with atrial fibrillation who presented within 24h of onset. All patients underwent transthoracic echocardiography to evaluate diastolic filling pressure estimated as the ratio of early transmitral flow velocity (E) to mitral annular velocity (e') within 24h of admission. We evaluated initial ischemic lesion volume and National Institute of Health Stroke Scale (NIHSS) score., Results: Two hundred and sixty-six patients were enrolled. During hospitalization, 30 patients (11%) died. The deceased group had a higher NIHSS score, a higher D-dimer level, a higher creatinine level, a larger initial ischemic lesion volume and a higher E/e' ratio than those in the survival group. In a multivariate analysis, a higher E/e' ratio was an independent predictor of in-hospital death. The cutoff value for the E/e' ratio for prediction in-hospital death was 20 with the sensitivity of 75% and specificity of 86%., Conclusion: Diastolic dysfunction may be associated with in-hospital death in ischemic stroke patients with atrial fibrillation., (Copyright © 2014 Elsevier B.V. All rights reserved.)

Background and Purpose: Artery-to-artery embolism generally occurs in patients with not only moderate to severe arterial stenosis but also plaque vulnerability. Two unique cases with free-floating thrombi at the distal side of the small plaque in the internal carotid artery without stenosis are presented and its clinical implications are discussed., Results: Two middle-aged men suffered embolic stroke. Initial duplex ultrasonography revealed small plaques and vortex flow without significant stenosis or plaque vulnerability in their internal carotid arteries. Continuous examination by duplex ultrasonography showed that free-floating thrombi developed and regressed at the distal side of the small plaques. Histological examination disclosed plaque erosion at the distal side of the plaques without lipid core rupture., Conclusions: In these two cases, duplex ultrasonography revealed free-floating thrombi developed at the distal region of small plaques. Aggressive treatment should be considered in a patient with thromboembolic stroke who has the small plaque presenting "snake fang" sign even if there is no stenosis or plaque vulnerability., (Copyright © 2012 by the American Society of Neuroimaging.)

Background: We aimed to evaluate the validity of duplex ultrasonography (DUS) using a microconvex array transducer (MAT) with enhanced flow imaging (EFI) for visualization of the distal, internal carotid artery (ICA) and the accurate assessment of ICA stenosis., Methods: Patients who underwent both DUS and digital subtraction angiography (DSA) were registered for this study. DUS was performed by using a linear array transducer (LAT) and an MAT with EFI. The visibility of the ICA was compared between the 2 transducers. ICA stenosis was evaluated by the North American Symptomatic Carotid Endarterectomy Trial (NASCET) method on DUS, and the peak systolic flow velocity (PSV) was evaluated by using an MAT. These results were compared with DSA., Results: In 238 internal carotid arteries, the average length of visualized ICA was longer for DUS using an MAT than an LAT (38.7±11.7 mm versus 25.8±9.8 mm, P<.0001). In 68 stenotic, internal carotid arteries, the degree of ICA stenosis detected by the NASCET method on DUS was correlated to that on DSA (P<.0001, r=.969, and adjusted r2=.938). PSV also correlated to NASCET method on DSA (P<.0001, r=.804, and adjusted r2=.640)., Conclusions: DUS using an MAT with EFI technology could reveal more extended distal views of the ICA and was strongly correlated with NASCET method on DSA., (Copyright © 2013 National Stroke Association. Published by Elsevier Inc. All rights reserved.)

Neurologic findings in 3 siblings with Angelman syndrome (AS) with apparently normal karyotype but DNA deletion of 15q11-q12 deriving from their mother are described. Increased auditory brainstem response (ABR) thresholds were noted in all 3. Interictal EEG findings included periodic 2- to 3-Hz high-voltage slow wave bursts bioccipitally and sporadic slow spike wave complexes mainly bifrontally. EEG findings suggestive of minor epileptic status were apparent in the elder brother and may be a characteristic feature in young AS patients. Seizures suggestive of generalized epilepsy have been reported in 90% of AS patients. AS is considered a good model of symptomatic generalized epilepsy associated with chromosomal DNA deletion of the (GABA)A receptor beta 3-subunit gene.

DNA deletion studies using 5 DNA markers localized at 15q11-q12 were performed in 14 Angelman syndrome (AS) patients (9 sporadic and 5 familial cases). A one-copy density for one or more of the 5 loci was detected in 8 (57.1%) of the 14 patients. A deletion of only the D15S11 locus was detected in one sporadic patient, that involving only the D15S10 in 3 familial patients (sibs in a family), that spanning 3 loci (D15S11, D15S10, D15S12) in one sporadic patient, and that spanning 4 loci (D15S9, D15S11, D15S10, D15S12) in the other 3 sporadic patients. The deletion common to our patients as well as to the reported patients may be confined to a segment between D15S11 and D15S10, if the 5 loci are ordered as cen-D15S18-(D15S9-D15S11-D15S10)-D15S12-qt er. This site overlaps but is more distal to the common deletion site in Prader-Willi syndrome (PWS) patients. In the family of the 3 sibs, both of the phenotypically normal mother and maternal grandfather also have deletions of the D15S10 locus. These results were consistent with the genomic imprinting hypothesis for the occurrence of AS, i.e., the lack of a maternally derived locus leads to AS, but may not support a model that AS is the alternative phenotype of PWS at the identical locus.

Deletion and RFLP studies with 5 cloned DNA markers localized at 15q11.2 were performed in 50 patients with the Prader-Willi syndrome (PWS). A one-copy density (deletion) for at least one of 4 loci, D15S9, D15S11, D15S10, D15S12, was detected in 32 (64%) of the 50 patients; deletions of each of the 4 loci were found in 29, 30, 29, and 28 patients, respectively. Three patients showed 4 or more copy density for D15S12 locus, in addition to deletions. The remaining 18 patients showed two-copy densities for each of the 4 loci. A common site of rearrangements among our 32 patients as well as the reported patients seemed to be confined to a segment between D15S9 and D15S11, suggesting the putative PWS gene locus in this segment. Of 6 patients who have cytologic deletions but did not show any molecular deletions, 3 have normal size of hands and feet, and 4 have normally pigmented skin and hair. The normal pigmentation was also observed in 3 patients who had small molecular deletions in the examined 5-locus segment. These observations may support the conception of contiguous gene syndrome. RFLP analysis demonstrated maternal uniparental isodisomy of chromosomes 15 in both a patient with 45,t(15q;15q) and a karyotypically normal patient. Based on the results of the present study, a new model is proposed to explain the occurrence of PWS with a variety of chromosome abnormalities, including partial monosomy, disomy, trisomy, and/or tetrasomy for 15q11.2. The normal development may require an even or more "number ratio" of paternally derived allele(s) to maternally derived allele(s) of the gene(s) localized at 15q11.2, and a disturbance of the ratio would lead to the PWS phenotype.

Karyotype and DNA analyses using DNA probes were carried out in a family with the Cohen syndrome. Two affected brothers had normal chromosomal constitutions. A major deletion or duplication of genomic DNA fragments hybridized with the DNA probes, pML34 at D15S9 locus and pTD3-21 at D15S10 locus, assigned on 15q11-q12 was not detected in the patients. In addition, a linkage of the syndrome to D15S9 and D15S10 loci was not observed in the family. These data suggest that a gene for the Cohen syndrome is excluded from the 15q11-q12 region, on which a gene for the Prader-Willi syndrome is assigned, and that the Cohen syndrome is distinctly different from the Prader-Willi syndrome, although clinical manifestations of the Cohen and the Prader-Willi syndromes are very similar.

Six patients, including two sibs, with Angelman syndrome (AS; three females and three males, aged 11 to 18 years) were studied cytogenetically. Molecular analysis was also performed. Using high-resolution banding technique, we detected a microdeletion in the proximal region of chromosome 15q in four cases. The deleted segment was heterogenous between these patients, and the common deleted region appeared to be 15q11.2. Four patients with deleted 15q were all sporadic cases, whereas in the sib cases we could not detect a visible deletion in the long arm of chromosome 15. However, there was no clinical difference between sporadic cases and sib cases. Densitometric analysis of autoradiographic bands of Southern hybridization using two DNA segments, pML34 and pTD3-21, as probes demonstrated that two patients had only one copy for each of the probes. In the remaining four patients, including the sibs, two copies of each sequence were retained. The probes used here detect a molecular deletion in most Prader-Willi syndrome patients. Thus the segment causing AS is localized adjacent to the critical segment of Prader-Willi syndrome. There seemed to be heterogeneity for the molecular deletion within AS individuals.