ABSTRACT
Background: Cerebral cavernous malformation (CCM) is a rare disease associated with a latent risk of intracranial hemorrhage. However, due to limited evidence, the safety of recommending intravenous tissue plasminogen activators for patients with acute stroke and CCM remains uncertain. Methods: Our study identified five patients with acute stroke and CCM treated between 2017 and 2023 across two hospitals. A comprehensive literature review was conducted, incorporating three similar case reports and two retrospective studies. Results: Among 30 patients reviewed, three exhibited symptomatic intracranial hemorrhage, two of whom were women. Additionally, three patients presented with calcification in their CCM, with two experiencing symptomatic intracranial hemorrhage. Conclusion: The observed incidence of symptomatic intracranial hemorrhage following intravenous tissue plasminogen activator administration appears to be elevated in patients with CCM. Therefore, before thrombolysis, a thorough evaluation of personalized risk-benefit ratios is crucial. Furthermore, conducting further research involving multiple centers and larger sample sizes is imperative to advance our understanding in this area, especially in identifying hemorrhage risk factors.
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Background: Intracranial atherosclerotic stenosis (ICAS) is a primary cause of ischemic stroke. In addition to dyslipidemia, inflammation has been recognized as a potential pathogenesis of atherosclerosis. It remains unknown whether there is a link between transthyretin and ICAS as an inflammatory index. Methods: Consecutive patients with acute ischemic stroke admitted to the Second Affiliated Hospital of Wenzhou Medical University between January 2019 and June 2020 were retrospectively analyzed. Blood samples were collected from all patients within 24 h of admission to detect their serum transthyretin levels. ICAS was defined as at least one intracranial artery stenosis on vascular examination with a degree of stenosis ≥50%. Multivariable logistic regression analysis was used to identify independent factors associated with ICAS. Restricted cubic spline models were used to depict patterns in the association between serum transthyretin levels and ICAS. Results: In total, 637 patients with acute ischemic stroke were included in this study, of whom 267 (41.9%) had ICAS. Compared with the patients without ICAS, serum transthyretin levels in patients with ICAS were significantly lower (226.3 ± 56.5 vs. 251.0 ± 54.9 mg/L; p < 0.001). After adjusting for potential confounders, patients in the lowest tertile showed a significant increase in ICAS compared to those in the highest tertile (odds ratio, 1.85; 95% confidence interval, 1.12-3.05; p = 0.016). This negative linear association is also observed in the restricted cubic spline model. However, this association may only be observed in men. Age, National Institutes of Health Stroke Scale score, hemoglobin A1c level, and low-density lipoprotein cholesterol level were independently associated with ICAS. Conclusions: Decreased serum transthyretin levels are associated with a more severe ICAS burden in patients with acute ischemic stroke. Our findings suggest that transthyretin may play a role in the pathogenesis of ICAS and provide insight into the control of inflammation for the treatment of ICAS.
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Background and Purpose: Acute ischemic stroke (AIS) is a major life-threatening consequence of cardiac myxoma (CM) and leads to a poor prognosis. Although intravenous thrombolysis (IVT) is the first-line treatment for AIS, its efficacy and safety in CM-AIS have not been established. Currently, there are only limited data from case reports. Our study aimed to investigate the clinical characteristics of CM-AIS and evaluate the safety and efficacy of IVT for CM-AIS patients. Methods: Fourteen CM-AIS patients who received IVT between January 2016 and December 2021 were identified from our multicenter stroke registry databases. Clinical, neuroimaging and outcome data were analyzed. We then performed a pooled analysis of the published literature from inception to December 2021. Results: Of the 14 CM-AIS patients, nine were treated with IVT alone, and five were treated with bridging therapy (BT). The median age was 51.5 years, and 57.1% were female. The median onset-to-needle time was 160 min. The median National Institute of Health Stroke Score (NIHSS) decreased from 15.5 at presentation to 13 24 h after IVT. Very early neurological improvement (VENI) was observed in one patient. Hemorrhagic transformation (HT) was observed in five (35.7%) patients, and only one patient was symptomatic (7.1%). Three-month favorable outcomes were achieved in six patients (66.7%) who underwent IVT alone and three patients (60%) who received BT, which resulted in a total proportion of favorable outcomes of 64.3%. None of the patients died at 3 months follow-up. Forty-seven cases (15 BT patients) were included for the pooled analysis. The median NIHSS score was 16.5, and VENI was observed in 10 (21.3%) patients. HT was detected in 11 patients (23.4%), and four (8.5%) patients were symptomatic. Favorable outcomes at 3 months were achieved in 61.7% of patients, 56.3% of patients who underwent IVT alone, and 73.3% of patients who received BT. The 3-month mortality rate was 4.3%. Conclusions: IVT is a potentially safe and efficient treatment for CM-AIS patients. Further studies with larger sample sizes are required to provide more evidence on the safety and efficacy of IVT and BT in CM-AIS patients.
ABSTRACT
Background and Purpose: Acute ischemic stroke (AIS) is a common and life-threatening complication of patients with cardiac myxoma (CM). The role of the mechanical thrombectomy (MT) technique in CM-AIS patients remains unclear, and no guidelines exist for this population. Therefore, we conducted a case series study of MT in CM-AIS patients to investigate its safety and efficacy via a pooled analysis of published literature. Methods: Eleven CM-AIS patients who underwent MT between 2016 and 2021 were screened from multicenter stroke databases. Clinical, procedural, and outcome data were obtained from medical records. A systematic review was conducted to identify additional cases from published studies by searching PubMed and China National Knowledge Infrastructure databases. We then performed a pooled analysis of the published cases. Results: In the case series study, most patients were male (81.8%), with a median age of 51 years. All patients had CM located in the left atrium. The rate of successful reperfusion using the first-line thrombectomy technique was 100% with stent retriever (SR) and 66.7% with direct aspiration (DA), which resulted in overall successful reperfusion in 94.1% of all occlusions. The retrieved emboli of the five patients who underwent histopathology examination were identified as myxoma components. Hemorrhagic transformation was observed in five (45.5%) patients, of whom one was symptomatic (9.1%). Three-month favorable functional outcomes were achieved in five (45.5%) patients with a 3-month mortality rate of 18.2%. For the literature review, 35 cases with 51 target vessel occlusions were identified and included in the pooled analysis. The rate of successful reperfusion following first-line thrombectomy did not differ between SR (30 patients, 90.9%) and DA (10 patients, 83.3%). The overall successful reperfusion rate was 91.8% of all occlusions. Three-month favorable functional outcomes were achieved in 21 (60.0%) patients, and the mortality rate was 8.6%. Conclusions: Our findings suggest that MT is not only an effective technique but also a safe option for CM-AIS patients with large vessel occlusion. MT has several advantages for this population, which include a high recanalization rate, low bleeding risk, and the ability to evaluate the source of emboli and the etiology of stroke.
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Genome-wide association studies identified PARK16 variants rs823128 and rs947211, PARK17/GAK rs11248051 and PARK18/HLA-DRA rs3129882 as risk factors for Parkinson's disease (PD). However the susceptibility of these loci to predisposing individuals for PD, particularly rs11248051, remains under investigation in Chinese populations. A total of 323 PD patients and 345 age and sex matched controls were recruited in eastern China. Our results show that minor allele frequencies of rs11248051 (odds ratio [OR] 1.522; p=0.016) and rs3129882 (OR 1.294; p=0.03), but not rs823128 and rs947211, were associated with risk for PD. Genetic interaction analysis revealed that subjects simultaneously carrying the T allele (TC or TT) of rs11248051 and the A allele (AG or AA) of rs3129882 had an aggravated risk (OR 1.91; p=0.016) of PD. However, rs11248051 or rs3129882 displayed no association with PD phenotypes or clinical scores. Our results suggest that rs11248051 and rs3129882 are risk factors for sporadic PD in a Chinese population, and their genetic interplay contributes to an elevated risk for PD predisposition. Our data provide a novel insight and further information regarding PARK16-18 loci in PD susceptibility.
Subject(s)
Asian People/genetics , Genetic Variation/genetics , Genome-Wide Association Study/methods , Parkinson Disease/genetics , Population Surveillance , Aged , Asian People/ethnology , Female , Humans , Male , Middle Aged , Parkinson Disease/diagnosis , Parkinson Disease/ethnology , Population Surveillance/methodsABSTRACT
The genetic variants in glucocerebrosidase (GBA) gene have been previously examined as potential susceptibility factors for Parkinson's disease (PD). Although of great interest, possible role of GBA gene in PD has not been well investigated in eastern Chinese population. To explore this association, we conducted a genetic screen of three common GBA variants (p.L444P, p.N370S, and p.R120W) in a casecontrol cohort comprised of 638 subjects of Chinese ethnicity. In order to provide a more precise estimate of this association, a meta-analysis was performed. We found that the GBA p.L444P allele was significantly more frequent (P = 0.001) in the PD patients (6/195 = 3.08%) than in the controls (0/443). The p.L444P mutation, but not p.N370S and p.R120W, was found to be associated with PD. Combined analysis including all previously published ancestral Chinese data yielded a highly significant association between the GBA gene and an increased risk for PD (OR = 8.13, 95% CI, 4.43-14.92, P < 0.00001). Our study suggests that the GBA gene may be a susceptibility gene for PD in the Chinese population. Efforts to elucidate in detail this interesting and biologically plausible genetic association are warranted.
