Data_Sheet_1_Cerebral artery signal intensity gradient from Time-of-Flight Magnetic Resonance Angiography and clinical outcome in lenticulostriate infarction: a retrospective cohort study.PDF

PurposeLenticulostriate infarction requires further research of arterial hemodynamic factors, as the disease is diagnosed in the absence of major arterial stenosis or cardioembolism.MethodsIn this multicenter retrospective cohort study, we included patients who were hospitalized for lenticulostriate infarction from January 2015 to March 2021 at three stroke centers in South Korea. We obtained hemodynamic information on cerebral arteries using signal intensity gradient (SIG), an in-vivo approximated wall shear stress (WSS) derived from Time-of-Flight Magnetic Resonance Angiography (TOF-MRA). A favorable outcome was defined as a modified Rankin Scale of 0 to 2 at hospital discharge.ResultsA total of 294 patients were included, of whom 146 (49.7%) had an unfavorable outcome. The unfavorable outcome group showed significantly lower SIG in both middle cerebral arteries (MCAs) than the favorable group (5.2 ± 1.2 SI/mm vs. 5.9 ± 1.2, p ConclusionCerebral artery SIG from TOF-MRA was significantly associated with short-term functional outcomes in patients with lenticulostriate infarction. Further studies are needed to investigate the temporal relationships of SIG in patients with cerebral infarction.</p

Frequency and significance of rare <i>RNF213</i> variants in patients with adult moyamoya disease

<div><p>Purpose</p><p>Moyamoya disease (MMD) is a rare cerebrovascular disorder characterized by stenosis of the internal carotid arteries with compensatory development of collateral vessels. Although a founder variant of <i>RNF213</i>, p.Arg4810Lys (c.14429G>A, rs112735431), is a major genetic risk factor for MMD in East Asians, the frequency and disease susceptibility of other variants in this gene remain largely unknown. In the present study, we investigated the association of <i>RNF213</i> variants with MMD in Korean patients and population controls.</p><p>Methods</p><p>For all <i>RNF213</i> variants listed in the Human Gene Mutation Database (HGMD) as disease-causing or likely disease-causing mutations for MMD, genotyping was performed using matrix-assisted laser desorption/ionization time-of-flight mass spectrometry. Genetic data from 264 adult patients with MMD were analyzed and compared with two control populations comprised of 622 and 1,100 Korean individuals, respectively.</p><p>Results</p><p>Among the 30 <i>RNF213</i> variants that were listed in the HGMD, p.Arg4810Lys was identified in 67.4% (178/264) of patients with MMD and showed a significantly higher allele frequency than in the controls, giving an odds ratio of 63.29 (95% confidence interval, 33.11–120.98) for the 622 controls and 48.55 (95% confidence interval, 31.00–76.03) for the 1100 controls. One additional variant, p.Ala5021Val (c.15062C>T, rs138130613), was identified in 0.8% (2/264) of patients; however, the allele frequencies were not significantly different from those in the controls.</p><p>Conclusions</p><p>These results suggest that, in our cohort of Korean patients, the p.Arg4810Lys is the only variant that is strongly associated with MMD among the 30 <i>RNF213</i> variants listed in the HGMD.</p></div

Allele frequencies of 30 <i>RNF213</i> variants in Korean patients with moyamoya disease and two population controls.

<p>Allele frequencies of 30 <i>RNF213</i> variants in Korean patients with moyamoya disease and two population controls.</p

Demographic characteristics of 264 Korean patients with MMD.

<p>Demographic characteristics of 264 Korean patients with MMD.</p

Thirty <i>RNF213</i> variants associated with moyamoya disease.

<p>Thirty <i>RNF213</i> variants associated with moyamoya disease.</p

Patient groups and the prevalence of the RNF213 variant.

<p>* Transfemoral cerebral angiography (TFCA) finding of moyamoya disease (MMD) indicate the presence of basal collaterals. †Time-of-flight magnetic resonance angiography (TOF-MRA) findings of MMD indicate bilateral appearance of an abnormal vascular network in the basal ganglia on the source image of MRA. ‡High-resolution magnetic resonance imaging (HR-MRI) findings of intracranial atherosclerotic stenosis indicate the absence of focal eccentric plaque and presence of negative remodeling and concentric enhancement. Abbreviations: ICA, internal carotid artery; MCA, middle cerebral artery, TFCA, transfemoral cerebral angiography; HR-MRI, high-resolution magnetic resonance imaging; MRA, magnetic resonance angiography; MMD, moyamoya disease; ICAS, intracranial atherosclerotic stroke.</p

Characteristics of patients.

<p>Characteristics of patients.</p

Factors associated with the presence of <i>RNF213</i> genetic variants among 234 patients with intracranial atherosclerotic stenosis.

<p>Factors associated with the presence of <i>RNF213</i> genetic variants among 234 patients with intracranial atherosclerotic stenosis.</p

Flow cytometry and Western blot test results.

<p>(A) Flow cytometry results using size beads showed that most circulating cancer-derived extracellular vesicles (EVs) were distributed with a size between 200nm-1,000 nm. (B) Most EVs were degradated after treatment with 0.1% triton-X100. (C) Western blot test showed that EVs expressed flotillin-1.</p

Patient groups

<p>Patient groups</p