The association between the ring finger protein 213 gene R4810K variant and intracranial major artery stenosis/occlusion in the Han Chinese population and high-resolution magnetic resonance imaging findings.

BACKGROUND AND PURPOSE: The ring finger protein 213 (RNF213) gene R4810K variant, a susceptibility locus for moyamoya disease (MMD), has recently been identified to be associated with intracranial major artery stenosis/occlusion (ICASO) without satisfying the diagnostic criteria of MMD in the Japanese population. However, further studies are needed to determine whether this variant is associated with ICASO in other populations and whether R4810K variant-related ICASO could be categorized as MMD. The aim of this study is to elucidate whether the R4810K variant was associated with ICASO among the Han Chinese population and potential histopathology of R4810K variant-related ICASO. MATERIALS AND METHODS: We conducted a case-control study to evaluate association and performed high-resolution (HR) magnetic resonance imaging (MRI) to investigate arterial wall feature of ICASO. The R4810K variant was genotyped in 114 ICASO patients and 268 controls. Then, patients with R4810K variant-related ICASO were subjected to HR MRI examination and presumptively diagnosed based on the characteristics thus observed. STATISTICAL ANALYSIS: The relationship between R4810K variant and ICASO was evaluated by Fisher's exact test with odds ratios (OR) and 95% confidence interval (CI). RESULTS: The R4810K variant was associated with ICASO and increased the risk for ICASO (P < 0.01; OR: 20.2; 95% CI: 2.5-163.11). Presumptive MMD was diagnosed in all female patients with R4810K variant. However, presumptive intracranial atherosclerotic stenosis was diagnosed in one of three males harboring this variant. CONCLUSIONS: The R4810K variant is a genetic risk factor for ICASO among the Han Chinese population and that R4810K variant-related ICASO should be identified as MMD in female but not uncertain in male patients.

Incremental Value of Plaque Enhancement in Patients with Moderate or Severe Basilar Artery Stenosis: 3.0 T High-Resolution Magnetic Resonance Study.

AIM: To investigate the clinical relevance of plaque's morphological characteristics and distribution pattern using 3.0 T high-resolution magnetic resonance imaging (HRMRI) in patients with moderate or severe basilar artery (BA) atherosclerosis stenosis. MATERIALS AND METHODS: Fifty-seven patients (33 symptomatic patients and 24 asymptomatic patients) were recruited for 3.0 T HRMRI scan; all of them had >50% stenosis on the BA. The intraplaque hemorrhage (IPH), contrast-enhancement pattern, and distribution of BA plaques were compared between the symptomatic and asymptomatic groups. Factors potentially associated with posterior ischemic stroke were calculated by multivariate analyses. RESULTS: Enhancement of BA plaque was more frequently observed in symptomatic than in asymptomatic patients (27/33, 81.8% versus 11/24, 45.8%; p < 0.01). In multivariate regression analysis, plaque enhancement (OR = 7.193; 95% CI: 1.880-27.517; p = 0.004) and smoking (OR = 4.402; 95% CI: 2.218-15.909; p = 0.024) were found to be independent risk factors of posterior ischemic events in patients with BA stenosis >50%. Plaques were mainly distributed at the ventral site (39.3%) or involved more than two arcs (21.2%) in the symptomatic group but were mainly distributed at left (33.3%) and right (25.0%) sites in the asymptomatic group.

Alternation of regional homogeneity in trigeminal neuralgia after percutaneous radiofrequency thermocoagulation: A resting state fMRI study.

We used resting-state fMRI to investigate regional homogeneity (ReHo) changes in patients with TN before and after PRT procedure, and to speculate about its possible mechanisms.Thirty-one TN patients underwent the PRT procedure had MRI scans just before and 6 months after surgery. The anatomical and resting-state functional images were all acquired. Patients' visual analog scales (VAS) scores, facial numbness, and disease duration were also recorded. Voxel-wise ReHo analysis was performed to detect the altered regional clusters after surgery. The correlations between the mean ReHo values of each significant cluster and clinical variables were examined.Compared with presurgical condition, patients after the PRT procedure showed a significant ReHo value increases in the right fusiform gyrus (FG) and bilateral anterior cingulate cortex (ACC), but decreases in the left inferior parietal lobule (IPL), right calcarine, right middle temporal gyrus (MTG), left postcentral gyrus (PoCG), and left insula. We demonstrated a positive correlation between ReHo in the left PoCG and VAS scores, a negative correlation between pre-surgical ReHo in the right MTG and VAS changes (ΔVAS).Alterations of ReHo post-surgical were found in several regions, which are related to sensory, affective, and emotional processes. The MTG may be a specific area that is associated with analgesic efficiency of PRT procedure.

Frequency-dependent alterations in regional homogeneity in major depression.

Previous studies using resting-state functional magnetic resonance imaging (fMRI) have found abnormal spontaneous neural activity in patients with major depressive disorder (MDD). Yet, the frequency-dependent neural activity in MDD is largely unknown. Here, we used resting-state fMRI and regional homogeneity (ReHo) methods to investigate spontaneous neural activity in specific frequency bands of 31 MDD patients and 31 age-, gender- and education-matched healthy controls. We examined spontaneous neural activity in three frequency bands: slow-4 (0.027-0.073Hz), slow-5 (0.010-0.027Hz), and the typical band (0.01-0.08Hz). Compared to controls, MDD patients showed increased ReHo in the middle frontal gyrus (MFG) and decreased ReHo in the fusiform and postcentral gyrus at the typical band. Importantly, MDD patients showed increased ReHo in the middle occipital gyrus (MOG) and decreased ReHo in the anterior cingulate cortex (ACC), inferior frontal gyrus (IFG), superior frontal gyrus (SFG) and the bilateral thalamus in the slow-4 band, while they showed increased ReHo in the medial prefrontal cortex (mPFC) in the slow-5 band. Our results suggest that the abnormality of ReHo in MDD is associated with the frequency band and that future studies should take frequency band effect into account when examining spontaneous neural activity.