Cerebrovascular diseases
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Cerebrovascular diseases · Jan 2014
Association between polymorphisms rs1333040 and rs7865618 of chromosome 9p21 and sporadic brain arteriovenous malformations.
The chromosomal locus 9p21 is a novel genetic marker for a variety of cardiovascular and cerebrovascular diseases. In a recent study, we have demonstrated an association between the single nucleotide polymorphism (SNP) rs1333040C>T on chromosome 9p21 and sporadic brain arteriovenous malformations (BAVMs). Here, we extended our analysis to an additional SNP on chromosome 9p21 (rs7865618A>G) and increased our sample size including BAVMs from two different Italian neurosurgical centers. ⋯ SNPs of the 9p21 region, in addition to be genetic markers for coronary artery disease, stroke, and intracranial aneurysms, are associated with sporadic BAVMs. These results extend and strengthen the role of the 9p21 chromosomal region as a common risk factor for cerebrovascular diseases.
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Cerebrovascular diseases · Jan 2014
Arterial spin labeling perfusion MRI in children and young adults with previous ischemic stroke and unilateral intracranial arteriopathy.
Little is known about cerebral blood flow (CBF) in young patients with ischemic stroke caused by an intracranial arteriopathy. Arterial spin labeling (ASL) perfusion is a noninvasive technique for measuring CBF. We aimed to investigate whether, in young patients with unilateral intracranial arteriopathy and previous ischemic stroke, CBF is compromised in noninfarcted brain areas of the symptomatic hemisphere and whether this is related to the severity of the arteriopathy. ⋯ This study shows that more than half of young patients with previous ischemic stroke in the MCA territory and a unilateral intracranial arteriopathy have hypoperfusion in the noninfarcted cortex of the symptomatic hemisphere when CBF is visually assessed using a CBF map, in particular in patients with a severe arteriopathy. In the same patients, quantification of CBF shows hypoperfusion in the symptomatic hemisphere in only 18%. This discrepancy is caused by labeled blood within the arteries that has not yet reached the tissue at the time of imaging. Visual assessment can show hypoperfusion, while the quantified CBF in a similar region appears higher when the intravascular labeled blood is included in the region of interest. Further research should focus on elucidating whether cerebral perfusion deficits in young stroke patients with intracranial arteriopathy might help to identify patients who are at risk of poor outcome or stroke recurrence.
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Cerebrovascular diseases · Jan 2014
Comparative StudyIntra-arterial therapy for acute ischemic stroke under general anesthesia versus monitored anesthesia care.
Recent studies have shown that intra-arterial recanalization therapy (IAT) for acute ischemic stroke (AIS) is associated with worse clinical outcomes when performed under general anesthesia (GA) compared to local anesthesia, with or without conscious sedation. The reasons for this association have not been systematically studied. ⋯ Our study has confirmed previous findings of GA being associated with poorer outcomes and higher mortality in patients undergoing IAT for AIS. Detailed analysis of intra-procedural hemodynamics did not reveal any significant difference between the two groups. Parenchymal hematoma was the major driver of the difference in outcomes.
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Cerebrovascular diseases · Jan 2014
Polymorphisms in inflammatory and immune response genes associated with cerebral cavernous malformation type 1 severity.
Familial cerebral cavernous malformation type 1 (CCM1) is an autosomal dominant disease caused by mutations in the Krev Interaction Trapped 1 (KRIT1/CCM1) gene, and characterized by multiple brain lesions that often result in intracerebral hemorrhage (ICH), seizures, and neurological deficits. Carriers of the same genetic mutation can present with variable symptoms and severity of disease, suggesting the influence of modifier factors. Evidence is emerging that inflammation and immune response play a role in the pathogenesis of CCM. The purpose of this study was to investigate whether common variants in inflammatory and immune response genes influence the severity of familial CCM1 disease, as manifested by ICH and greater brain lesion count. ⋯ These results suggest that polymorphisms in inflammatory and immune response pathways contribute to variability in CCM1 disease severity and might be used as predictors of disease severity. In particular, TGFBR2 rs9823731 was associated with all three markers of CCM1 disease severity tested, suggesting that TGFBR2 might be a key participant in the mechanism underlying CCM1 disease severity and phenotype variability. However, further longitudinal studies in larger sample sizes are needed to confirm these findings.
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Cerebrovascular diseases · Jan 2014
Validation of a structured interview for telephone assessment of the modified Rankin Scale in Brazilian stroke patients.
The modified Rankin Scale (mRS) is a commonly used scale to assess the functional outcome after stroke. Several studies on mRS showed good reliability, feasibility, and interrater agreement of this scale using a face-to-face assessment. However, telephone assessment is a more time-efficient way to obtain an mRS grade than a face-to-face interview. The aim of this study was to validate the telephone assessment of mRS among the Portuguese using a structured interview in a sample of Brazilian stroke patients. ⋯ Despite the low education level of our sample, the telephone assessment of functional impairment of stroke patients using a translated and culturally adapted Brazilian Portuguese version of the mRS showed good validity and reliability. Therefore, the telephone assessment of mRS can be used in clinical practice and scientific studies in Brazil.