Reversible Cerebral Vasoconstriction Syndrome, Part 2: Diagnostic Work-Up, Imaging Evaluation, and Differential Diagnosis.
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SUBMITTER: Miller TR
PROVIDER: S-EPMC7968777 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:The pathophysiology of reversible cerebral vasoconstriction syndrome (RCVS) is elusive. We speculated that circulating miRNAs might participate in the pathogenesis of RCVS and could assist clinical diagnosis. We prospectively recruited 75 RCVS patients (including 20 in discovery cohort, 23 in validation cohort-1, and 32 in the validation cohort-2) together with 76 age- and sex-matched controls. Five miRNAs including miR-130a-3p, miR-130b-3p, let-7a-5p, let-7b-5p andlet-7f-5p were significantly upregulated in patients with RCVS during ictal stage in comparison with that in their remission stage or controls. The combined miRNA panel well differentiated patients from controls (area under curve of Receiver Operating Characteristic curve was 0.906, 0.890 and 0.867 in three different cohorts respectively.) The expression of miR-130a-3p was associated with disruption of blood-brain barrier. Target prediction and pathway enrichment analysis suggested that endothelin-1 (EDN1) and transforming growth factor-beta (TGF-β) signaling pathway might link these miRNAs to the pathogenesis of RCVS. In vitro functional validation in human umbilical vein endothelial cells (HUVEC), human blood-brain barrier cell line (hCMEC/D3 cells) and HEK 293 cells confirmed that EDN1 and genes (BMPR2, SMAD5 and TGFBR2) involved in TGF-β signaling pathway were downregulated by these miRNAs. These miRNAs were correlated with plasma endothelin-1 level in the controls but not patients, indicating a deregulated feedback loop in patients during the disease state. To conclude, we identified the miRNA signatures associated with RCVS, which revealed excellent diagnostic performance, clinical relevance, and were functionally relevant to the putative pathomechanisms.
2023-02-19 | GSE145581 | GEO
Project description:Focal segmental glomerulosclerosis is a histologic lesion, rather than a clinical disease. FSGS is common cause of nephrotic syndrome in both adults and children worldwide. In the United States it is the most common primary glomerular disease resulting in end-stage renal disease and recent reports have suggested that its incidence might be on the rise. Currently the incidence is estimated to be 7 per million. The podocyte is the cellular target cell in FSGS and in recent years substantial insight in the pathogenesis and genetics of FSGS have accumulated. Furthermore the discovery of potential novel biomarkers to diagnose FSGS and monitor disease activity has renewed interest in this disease. In this review article we will focus on the clinical presentation and diagnosis of FSGS.
| S-EPMC4894996 | biostudies-literature
Project description:Background and purposeThere is mounting evidence supporting the benefit of intra-arterial administration of vasodilators in diagnosing reversible cerebral vasoconstriction syndrome. We prospectively quantified the degree of luminal diameter dilation after intra-arterial administration of verapamil and its accuracy in diagnosing reversible cerebral vasoconstriction syndrome.Materials and methodsPatients suspected of having intracranial arteriopathy on noninvasive imaging and referred for digital subtraction angiography were enrolled in a prospective registry. Intra-arterial verapamil was administered in vascular territories with segmental irregularities. The caliber difference (Caliberpost - Caliberpre) and the proportion of caliber change ([(Caliberpost - Caliberpre)/Caliberpre] × 100%) were used to determine the response to verapamil. The diagnosis of reversible cerebral vasoconstriction syndrome was made on the basis of clinical and imaging features at a follow-up appointment, independent of the reversibility of verapamil. Receiver operating characteristic curve analysis was performed to determine the best threshold.ResultsTwenty-six patients were included, and 9 (34.6%) were diagnosed with reversible cerebral vasoconstriction syndrome. A total of 213 vascular segments were assessed on diagnostic angiography. Every patient with a final diagnosis of reversible cerebral vasoconstriction syndrome responded to intra-arterial verapamil. The maximal proportion of change (P < .001), mean proportion of change (P = .002), maximal caliber difference (P = .004), and mean caliber difference (P = .001) were statistically different between patients with reversible cerebral vasoconstriction syndrome and other vasculopathies. A maximal proportion of change ≥32% showed a sensitivity of 100% and a specificity of 88.2% to detect reversible cerebral vasoconstriction syndrome (area under the curve = 0.951). The Reversible Cerebral Vasoconstriction Syndrome-2 score of ≥5 points achieved a lower area under the curve (0.908), with a sensitivity of 77.8% and a specificity of 94.1%.ConclusionsObjective measurement of the change in the arterial calibers after intra-arterial verapamil is accurate in distinguishing reversible cerebral vasoconstriction syndrome from other vasculopathies. A proportion of change ≥32% has the best diagnostic performance.
| S-EPMC7661086 | biostudies-literature
Project description:ObjectiveFactors predicting poor outcome in patients with the reversible cerebral vasoconstriction syndrome (RCVS) have not been identified.MethodsIn this single-center retrospective study, we analyzed the clinical, brain imaging, and angiography data in 162 patients with RCVS. Univariable and multivariable regression analysis were performed to identify predictors of persistent (nontransient) clinical worsening, radiologic worsening, early angiographic progression, and poor discharge outcome (modified Rankin Scale score 4-6).ResultsThe mean age was 44 ± 13 years; 78% of patients were women. Persistent clinical worsening occurred in 14% at 6.6 ± 4.1 days after symptom onset, radiologic worsening in 27% (mainly new infarcts), and angiographic progression in 15%. Clinical worsening correlated with angiographic progression and new nonhemorrhagic lesions. Age and sex did not independently predict any type of worsening. Infarction on baseline imaging predicted poor outcome. Prior serotonergic antidepressant use predicted clinical and angiographic worsening but not poor outcome. Intra-arterial vasodilator therapy independently predicted clinical worsening and poor discharge outcome but was offered to more severe cases. Glucocorticoid treatment proved to be an independent predictor of clinical, imaging, and angiographic worsening and poor outcome. Of the 23 patients with clinical worsening, 17 received glucocorticoids (15 within the preceding 2 days). There were no significant differences in baseline brain lesions and angiographic abnormalities between glucocorticoid-treated and untreated patients.ConclusionPatients with RCVS at risk for worsening can be identified on basis of baseline features. Iatrogenic factors such as glucocorticoid exposure may contribute to worsening.
| S-EPMC5272793 | biostudies-literature
Project description:Purpose of reviewIdentification of the underlying cause of pulsatile tinnitus is important for treatment decision making and for prognosis estimation. For this, an adequate diagnostic imaging strategy is crucial.Recent findingsBoth CT and MRI can be useful, and in general, these modalities provide complementary diagnostic information. The scanning protocol can be optimized based on the estimated a priori chance for finding specific pathology, or the need to rule out more rare but clinical significant disease. In recent years, dynamic CTA, also referred to as 4D-CTA, has become available as a new technique that enables non-invasive evaluation of hemodynamics for the detection, classification, and follow-up of vascular malformations.SummaryThe value of different diagnostic imaging modalities in the work-up of pulsatile tinnitus is discussed in relation to the differential diagnosis. Furthermore, imaging findings of different diseases are presented, both for CT and MRI.
| S-EPMC5263210 | biostudies-literature
Project description:Posterior reversible encephalopathy syndrome (PRES) and reversible cerebral vasoconstriction syndrome (RCVS) are relatively uncommon neurological disorders, but their detection has been increasing mainly due to clinical awareness and spreading of magnetic resonance imaging (MRI). Because these syndromes share some common clinical and radiologic features and occasionally occur in the same patient, misdiagnosis may occur. PRES is characterized by varied neurological symptoms including headache, impaired visual acuity or visual field deficit, confusion, disorders of consciousness, seizures, and motor deficits often associated to peculiar neuroradiological pattern even if uncommon localization and ischemic or hemorrhagic lesions were described. RCVS is a group of diseases typically associated with severe headaches and reversible segmental vasoconstriction of cerebral arteries, often complicated by ischemic or hemorrhagic stroke. Pathophysiological basis of PRES and RCVS are still debated but, because they share some risk factors and clinical features, a possible common origin has been supposed. Clinical course is usually self-limiting, but prognosis may fluctuate from complete recovery to death due to complications of ischemic stroke or intracranial hemorrhage. Neuroradiological techniques such as digital angiography and MRI are helpful in the diagnostic pathway and a possible prognostic role of MRI has been suggested. This review will serve to summarize clinical, neuroradiological features and controversies underlying both syndromes that may mislead the diagnostic pathway and their possible relationship with pathophysiology, clinical course, and prognosis.
| S-EPMC7033494 | biostudies-literature
Project description:BackgroundThe pathophysiology of reversible cerebral vasoconstriction syndrome (RCVS) remains elusive. Endothelial dysfunction might play a role, but direct evidence is lacking. This study aimed to explore whether patients with RCVS have a reduced level of circulating circulating endothelial progenitor cells (EPCs) to repair the dysfunctional endothelial vasomotor control.MethodsWe prospectively recruited 24 patients with RCVS within one month of disease onset and 24 healthy age- and sex-matched controls. Flow cytometry was used to quantify the numbers of circulating EPCs, defined as KDR+CD133+, CD34+CD133+, and CD34+KDR+ double-positive mononuclear cells. The Lindegaard index, an index of vasoconstriction, was calculated by measuring the mean flow velocity of middle cerebral arteries and distal extracranial internal carotid arteries via color-coded sonography on the same day as blood drawing. A Lindegaard index of 2 was chosen as the cutoff value for significant vasoconstriction of middle cerebral arteries based on our previous study.ResultsPatients with RCVS had a reduced number of CD34+KDR+ cells (0.009?±?0.006% vs. 0.014?±?0.010%, p?=?0.031) but not KDR+CD133+ cells or CD34+CD133+ EPCs, in comparison with controls. The number of CD34+KDR+ cells was inversely correlated with the Lindegaard index (rs?=?-0.418, p?=?0.047). Of note, compared to controls, patients with a Lindegaard index?>?2 (n?=?13) had a reduced number of CD34+KDR+ cells (0.007?±?0.005% vs. 0.014?±?0.010%, p?=?0.010), but those with a Lindegaard index???2 did not.ConclusionsPatients with RCVS had reduced circulating CD34+KDR+ EPCs, which were correlated with the severity of vasoconstriction. Endothelial dysfunction might contribute to the pathogenesis of RCVS.
| S-EPMC4266547 | biostudies-literature
Project description:BackgroundThe pathophysiology of the reversible cerebral vasoconstriction syndrome (RCVS) remains enigmatic and the role of glymphatics in RCVS pathophysiology has not been evaluated. We aimed to investigate RCVS glymphatic dynamics and its clinical correlates.MethodsWe prospectively evaluated the glymphatic function in RCVS patients, with RCVS subjects and healthy controls (HCs) recruited between August 2020 and November 2023, by calculating diffusion-tensor imaging along the perivascular space (DTI-ALPS) index under a 3-T MRI. Clinical and vascular (transcranial color-coded duplex sonography) investigations were conducted in RCVS subjects. RCVS participants were separated into acute (≤ 30 days) and remission (≥ 90 days) groups by disease onset to MRI interval. The time-trend, acute stage and longitudinal analyses of the DTI-ALPS index were conducted. Correlations between DTI-ALPS index and vascular and clinical parameters were performed. Bonferroni correction was applied to vascular investigations (q = 0.05/11).ResultsA total of 138 RCVS patients (mean age, 46.8 years ± 11.8; 128 women) and 42 HCs (mean age, 46.0 years ± 4.5; 35 women) were evaluated. Acute RCVS demonstrated lower DTI-ALPS index than HCs (p < 0.001) and remission RCVS (p < 0.001). A continuously increasing DTI-ALPS trend after disease onset was demonstrated. The DTI-ALPS was lower when the internal carotid arteries resistance index and six-item Headache Impact test scores were higher. In contrast, during 50-100 days after disease onset, the DTI-ALPS index was higher when the middle cerebral artery flow velocity was higher.ConclusionsGlymphatic function in patients with RCVS exhibited a unique dynamic evolution that was temporally coupled to different vascular indices and headache-related disabilities along the disease course. These findings may provide novel insights into the complex interactions between glymphatic transport, vasomotor control and pain modulation.
| S-EPMC10840154 | biostudies-literature
Project description:Importance:White matter hyperintense lesions (WMHs) are highly prevalent in patients with reversible cerebral vasoconstriction syndrome (RCVS); however, their characteristics and underlying pathophysiology are unclear. Objective:To investigate the spatiotemporal distribution and pathomechanisms of WMHs in patients with RCVS. Design, Setting, and Participants:We prospectively recruited patients with RCVS over a 3-year period from January 2010 through December 2012 from the headache center or emergency department of Taipei Veterans General Hospital, Taipei, Taiwan, a 2947-bed national medical center. In total, 85 patients with RCVS were approached, of whom 4 declined to participate, 5 declined follow-up scans, 6 were lost to follow-up, and 5 had suboptimal images. Patients received serial isotropic 3-dimension fluid-attenuated inversion recovery sequence imaging (1-mm slice thickness) with a 3-T magnetic resonance imaging machine as well as transcranial and extracranial color-coded sonography on registration and during follow-ups (at 1 and 2 months, with variations adapting to clinical condition). Data were analyzed from January 2015 to May 2017. Main Outcomes and Measures:The fluid-attenuated inversion recovery lesion segmentation toolbox was used to segment WMHs automatically. The WMHs were classified as periventricular or deep and were segmented into 13 anatomical locations. The neuroimaging scientists who executed the program were blinded to clinical information. Vascular parameters, including the Lindegaard index (vasoconstriction severity), pulsatility index, and resistance index of the internal carotid artery, were independently collected for comparison. Results:Sixty-five patients with RCVS completed the study and underwent a total of 162 magnetic resonance imaging examinations. Of the 65 included patients, 58 (89%) were women, and the mean (SD) age was 50.1 (8.9) years. The total mean (SD) WMH load peaked at 3.2 (4.4) cm3 in the third week postonset and fell to 0.8 (0.6) cm3 in the fourth week. White matter hyperintensities were predominantly frontal and periventricular. White matter hyperintensity load correlated strongly with Lindegaard index during the second week of the disease course (r?=?0.908; P?<?.001) and also correlated with the pulsatility index and resistance index of the internal carotid artery. Conclusions and Relevance:White matter hyperintensities in patients with RCVS have a dynamic temporal evolution that parallels disease severity. The finding of partially reversible WMHs deserves attention and should be known by clinicians taking care of patients with RCVS. White matter hyperintensities in RCVS may be attributed, at least partially, to regional hypoperfusion and impaired dampening capacity to central pulsatile flow.
| S-EPMC6143117 | biostudies-literature
Project description:Background and purposeReversible cerebral vasoconstriction syndrome is characterized by thunderclap headache and diffuse segmental vasoconstriction that resolves spontaneously within 3 months. Previous reports have proposed that vasoconstriction first involves small distal arteries and then progresses toward major vessels at the time of thunderclap headache remission. The purpose of this study was to confirm centripetal propagation of vasoconstriction on MRA at the time of thunderclap headache remission compared with MRA at the time of reversible cerebral vasoconstriction syndrome onset.Materials and methodsOf the 39 patients diagnosed with reversible cerebral vasoconstriction syndrome at our hospital during the study period, participants comprised the 16 patients who underwent MR imaging, including MRA, within 72 hours of reversible cerebral vasoconstriction syndrome onset (initial MRA) and within 48 hours of thunderclap headache remission.ResultsIn 14 of the 16 patients (87.5%), centripetal propagation of vasoconstriction occurred from the initial MRA to remission of thunderclap headache, with typical segmental vasoconstriction of major vessels. These mainly involved the M1 portion of the MCA (10 cases), P1 portion of the posterior cerebral artery (10 cases), and A1 portion of the anterior cerebral artery (5 cases).ConclusionsThis study found evidence of centripetal propagation of vasoconstriction on MRA obtained at the time of thunderclap headache remission, compared with MRA obtained at the time of reversible cerebral vasoconstriction syndrome onset. If clinicians remain unsure of the diagnosis during early-stage reversible cerebral vasoconstriction syndrome, this time point represents the best opportunity to diagnose reversible cerebral vasoconstriction syndrome with confidence.
| S-EPMC7984712 | biostudies-literature