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Background The combination of intravenous thrombolysis (IVT) with mechanical thrombectomy (MT) may have clinical benefits for patients with medium vessel occlusion. Purpose To examine whether MT combined with IVT is associated with different outcomes than MT alone in patients with acute ischemic stroke (AIS) and medium vessel occlusion. Materials and Methods This retrospective study included consecutive adult patients with AIS and medium vessel occlusion treated with MT or MT with IVT at 37 academic centers in North America, Asia, and Europe. Data were collected from September 2017 to July 2021. Propensity score matching was performed to reduce confounding. Univariable and multivariable logistic regression analyses were performed to test the association between the addition of IVT treatment and different functional and safety outcomes. Results After propensity score matching, 670 patients (median age, 75 years [IQR, 64-82 years]; 356 female) were included in the analysis; 335 underwent MT alone and 335 underwent MT with IVT. Median onset to puncture (350 vs 210 minutes, P < .001) and onset to recanalization (397 vs 273 minutes, P < .001) times were higher in the MT group than the MT with IVT group, respectively. In the univariable regression analysis, the addition of IVT was associated with higher odds of a modified Rankin Scale (mRS) score 0-2 (odds ratio [OR], 1.44; 95% CI: 1.06, 1.96; P = .019); however, this association was not observed in the multivariable analysis (OR, 1.37; 95% CI: 0.99, 1.89; P = .054). In the multivariable analysis, the addition of IVT also showed no evidence of an association with the odds of first-pass effect (OR, 1.27; 95% CI: 0.9, 1.79; P = .17), Thrombolysis in Cerebral Infarction grades 2b-3 (OR, 1.64; 95% CI: 0.99, 2.73; P = .055), mRS scores 0-1 (OR, 1.27; 95% CI: 0.91, 1.76; P = .16), mortality (OR, 0.78; 95% CI: 0.49, 1.24; P = .29), or intracranial hemorrhage (OR, 1.25; 95% CI: 0.88, 1.76; P = .21). Conclusion Adjunctive IVT may not provide benefit to MT in patients with AIS caused by distal and medium vessel occlusion. © RSNA, 2024 Supplemental material is available for this article. See also the editorial by Wojak in this issue.
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AVC Isquêmico , Trombectomia , Terapia Trombolítica , Humanos , Feminino , Masculino , Idoso , Estudos Retrospectivos , Trombectomia/métodos , AVC Isquêmico/diagnóstico por imagem , AVC Isquêmico/cirurgia , AVC Isquêmico/terapia , Pessoa de Meia-Idade , Idoso de 80 Anos ou mais , Terapia Trombolítica/métodos , Terapia Combinada , Resultado do Tratamento , Fibrinolíticos/uso terapêutico , Fibrinolíticos/administração & dosagem , Pontuação de PropensãoRESUMO
PURPOSE: Our purpose was to assess the efficacy and safety of the pRESET LITE stent retriever (Phenox, Bochum, Germany), designed for medium vessel occlusion (MeVO) in acute ischemic stroke (AIS) patients with a primary MeVO. METHODS: We performed a retrospective analysis of the MAD MT Consortium, an integration of prospectively maintained databases at 37 academic institutions in Europe, North America, and Asia, of AIS patients who underwent mechanical thrombectomy with the pRESET LITE stent retriever for a primary MeVO. We subcategorized occlusions into proximal MeVOs (segments A1, M2, and P1) vs. distal MeVOs/DMVO (segments A2, M3-M4, and P2). We reviewed patient and procedural characteristics, as well as angiographic and clinical outcomes. RESULTS: Between September 2016 and December 2021, 227 patients were included (50% female, median age 78 [65-84] years), of whom 161 (71%) suffered proximal MeVO and 66 (29%) distal MeVO. Using a combined approach in 96% of cases, successful reperfusion of the target vessel (mTICI 2b/2c/3) was attained in 85% of proximal MeVO and 97% of DMVO, with a median of 2 passes (IQR: 1-3) overall. Periprocedural complications rate was 7%. Control CT at day 1 post-MT revealed a hemorrhagic transformation in 63 (39%) patients with proximal MeVO and 24 (36%) patients with DMVO, with ECASS-PH type hemorrhagic transformations occurring in 3 (1%) patients. After 3 months, 58% of all MeVO and 63% of DMVO patients demonstrated a favorable outcome (mRS 0-2). CONCLUSION: Mechanical thrombectomy using the pRESET LITE in a combined approach with an aspiration catheter appears effective for primary medium vessel occlusions across several centers and physicians.
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Isquemia Encefálica , Procedimentos Endovasculares , AVC Isquêmico , Acidente Vascular Cerebral , Idoso , Feminino , Humanos , Masculino , Isquemia Encefálica/complicações , AVC Isquêmico/etiologia , Estudos Retrospectivos , Stents , Acidente Vascular Cerebral/etiologia , Trombectomia , Resultado do Tratamento , Idoso de 80 Anos ou maisRESUMO
Orbital cavernous venous malformation (OCVM) is a sporadic vascular anomaly of uncertain etiology characterized by abnormally dilated vascular channels. Here, we identify a somatic missense mutation, c.121G > T (p.Gly41Cys) in GJA4, which encodes a transmembrane protein that is a component of gap junctions and hemichannels in the vascular system, in OCVM tissues from 25/26 (96.2%) individuals with OCVM. GJA4 expression was detected in OCVM tissue including endothelial cells and the stroma, through immunohistochemistry. Within OCVM tissue, the mutation allele frequency was higher in endothelial cell-enriched fractions obtained using magnetic-activated cell sorting. Whole-cell voltage clamp analysis in Xenopus oocytes revealed that GJA4 c.121G > T (p.Gly41Cys) is a gain-of-function mutation that leads to the formation of a hyperactive hemichannel. Overexpression of the mutant protein in human umbilical vein endothelial cells led to a loss of cellular integrity, which was rescued by carbenoxolone, a non-specific gap junction/hemichannel inhibitor. Our data suggest that GJA4 c.121G > T (p.Gly41Cys) is a potential driver gene mutation for OCVM. We propose that hyperactive hemichannel plays a role in the development of this vascular phenotype.
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Mutação com Ganho de Função , Malformações Vasculares , Humanos , Células Endoteliais , Junções Comunicantes/genética , Mutação , Veias , Malformações Vasculares/metabolismoRESUMO
BACKGROUND: Although 60% of patients with de novo neurofibromatosis type 2 (NF2) are presumed to have mosaic NF2, the actual diagnostic rate of this condition remains low at around 20% because of the existing difficulties in detecting NF2 variants with low variant allele frequency (VAF). Here, we examined the correlation between the genotype and phenotype of mosaic NF2 after improving the diagnostic rate of mosaic NF2. METHODS: We performed targeted deep sequencing of 36 genes including NF2 using DNA samples from multiple tissues (blood, buccal mucosa, hair follicle and tumour) of 53 patients with de novo NF2 and elucidated their genotype-phenotype correlation. RESULTS: Twenty-four patients (45.2%) had the NF2 germline variant, and 20 patients with NF2 (37.7%) had mosaic NF2. The mosaic NF2 phenotype was significantly different from that in patients with NF2 germline variant in terms of distribution of NF2-related disease, tumour growth rate and hearing outcome. The behaviour of schwannoma correlated to the extent of VAF with NF2 variant in normal tissues unlike meningioma. CONCLUSION: We have improved the diagnostic rate of mosaic NF2 compared with that of previous studies by targeted deep sequencing of DNA from multiple tissues. Many atypical patients with NF2 diagnosed with 'unilateral vestibular schwannoma' or 'multiple meningiomas' presumably have mosaic NF2. Finally, we suggest that the highly diverse phenotype of NF2 could result not only from the type and location of NF2 variant but also the extent of VAF in the NF2 variant within normal tissue DNA.
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Genes da Neurofibromatose 2 , Sequenciamento de Nucleotídeos em Larga Escala , Mosaicismo , Mutação , Neurofibromatose 2/diagnóstico , Neurofibromatose 2/genética , Fenótipo , Biologia Computacional/métodos , Análise Mutacional de DNA , Estudos de Associação Genética , Predisposição Genética para Doença , Humanos , Técnicas de Amplificação de Ácido Nucleico , Análise de Sequência de DNARESUMO
BACKGROUND AND PURPOSE: Few previous studies have comprehensively explored the relationship between the onset pattern of adult moyamoya disease and risk factors for stroke. We performed a retrospective analysis focusing on risk factors for stroke and related findings on magnetic resonance imaging/angiography with respect to the pattern of disease onset. We also examined whether risk factors for stroke were associated with an increased risk for symptomization in asymptomatic patients. METHODS: A total of 178 adult patients with moyamoya disease (asymptomatic, n=84; ischemic, n=71; hemorrhagic, n=23) at the University of Tokyo Hospital from 2000 to 2018 were included in this study. Data pertaining to patient background and magnetic resonance imaging findings were analyzed retrospectively. In the asymptomatic group, the effects of stroke-associated risk factors on symptom onset were analyzed. RESULTS: Comparisons among the 3 groups revealed no significant difference in the frequency of risk factors for stroke. The proportion of patients with magnetic resonance imaging/angiography findings indicating anterior choroidal artery anastomosis or microbleeds was significantly higher in the hemorrhagic group than in the asymptomatic or ischemic group. Among asymptomatic patients, the hazard ratios for symptomization with hypertension and dyslipidemia were 6.69 ([95% CI, 1.23-36.4] P=0.028) and 8.14 ([95% CI, 1.46-45.2] P=0.017), respectively. CONCLUSIONS: The development of anterior choroidal artery anastomosis and microbleeds on magnetic resonance imaging/angiography was significantly associated with hemorrhagic onset. Hypertension and dyslipidemia may increase the risk of cerebrovascular events in asymptomatic patients, and thus, early intervention to these factors may be important.
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Encéfalo/diagnóstico por imagem , Artérias Cerebrais/diagnóstico por imagem , Doença de Moyamoya/diagnóstico por imagem , Acidente Vascular Cerebral/etiologia , Adulto , Feminino , Humanos , Angiografia por Ressonância Magnética , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Doença de Moyamoya/complicações , Estudos Retrospectivos , Fatores de RiscoRESUMO
A 31-year-old female presented to our hospital with sudden headache and altered consciousness. Computed tomography showed left acute subdural hematoma, and digital subtraction angiography revealed a small aneurysm on the left distal posterior cerebral artery. Coil embolization was conducted, and the patient was discharged with no neurological deficits. However, two weeks later, she presented with complete left hemiplegia and with the National Institutes of Health Stroke Scale of 20. Magnetic resonance angiography showed the occlusion of right middle cerebral artery, and the Diffusion-Weighted Imaging-Alberta Stroke Program Early Computed Tomography Score was four. Mechanical thrombectomy was conducted. Complete recanalization was achieved, and the patient recovered favorably. Although she showed no symptoms of infection such as fever throughout the treatment of aneurysm and thrombectomy, her blood culture was positive for streptococcus mitis. Furthermore, the thrombus retrieved by thrombectomy showed bacterial mass, and transesophageal echocardiography (TEE) showed vegetation on the mitral valve that could not be detected by transthoracic echocardiography. Therefore, the patient was diagnosed with infective endocarditis (IE). She was administered penicillin for 6 weeks and was discharged with no neurological deficits. When treating young patients with small aneurysms in rare locations, IE should be suspected, and blood culture and TEE should be conducted, even when there are no obvious symptoms of systemic infection.
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BACKGROUND AND OBJECTIVES: Recent molecular analyses have shown that the driver genetic mutations of meningiomas were associated with the anatomic location. Among these, POLR2A mutation is common among lesions in the skull base, mainly in the cerebellopontine angle (CPA). The objective of this study was to investigate the efficacy of POLR2A mutation as a prognostic marker for CPA meningiomas. METHODS: We retrospectively analyzed the clinical data of 70 patients who had World Health Organization grade I CPA meningiomas. Somatic DNA was analyzed by Sanger sequencing and microsatellite array to examine for NF2 , AKT1 , KLF4 , SMO , and POLR2A mutations and 22q loss. Genetic and clinical parameters were analyzed to identify the factors related with tumor recurrence. RESULTS: We detected clearly the clinical features of the CPA cases with POLR2A mutation. Compared with cases without POLR2A mutation, cases with POLR2A mutation had more meningothelial type ( P = 6.9 × 10 -4 ), and higher rate of recurrence ( P = .04). We found that the poor prognostic factors associated with the recurrence of CPA meningiomas were POLR2A mutation ( P = .03, hazard ratio [HR] 9.38, 95% CI 1.26-70.0) and subtotal resection (STR) ( P = 5.1 × 10 -4 , HR 63.1, 95% CI 6.09-655.0). In addition, in the group that underwent STR, POLR2A mutation was a poor prognostic factor associated with tumor recurrence ( P = .03, HR 11.1, 95% CI 1.19-103.7). CONCLUSION: POLR2A mutation and STR were the poor prognostic markers associated with the recurrence of CPA meningioma. For CPA meningioma cases that underwent STR, only POLR2A mutation was a poor prognostic factor. Detecting POLR2A mutation may be a cost-effective, easy, and useful marker for prognostication.
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Ângulo Cerebelopontino , Neoplasias Meníngeas , Meningioma , Mutação , Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Biomarcadores Tumorais/genética , Neoplasias Cerebelares/genética , Neoplasias Cerebelares/cirurgia , Ângulo Cerebelopontino/cirurgia , Ângulo Cerebelopontino/patologia , DNA Polimerase II/genética , Fator 4 Semelhante a Kruppel , Neoplasias Meníngeas/genética , Neoplasias Meníngeas/patologia , Meningioma/genética , Meningioma/patologia , Mutação/genética , Recidiva Local de Neoplasia/genética , Prognóstico , Estudos RetrospectivosRESUMO
INTRODUCTION: First pass effect (FPE), achievement of complete recanalization (mTICI 2c/3) with a single pass, is a significant predictor of favorable outcomes for endovascular treatment (EVT) in large vessel occlusion stroke (LVO). However, data concerning the impact on functional outcomes and predictors of FPE in medium vessel occlusions (MeVO) are scarce. PATIENTS AND METHODS: We conducted an international retrospective study on MeVO cases. Multivariable logistic modeling was used to establish independent predictors of FPE. Clinical and safety outcomes were compared between the two study groups (FPE vs non-FPE) using logistic regression models. Good outcome was defined as modified Rankin Scale 0-2 at 3 months. RESULTS: Eight hundred thirty-six patients with a final mTICI ⩾ 2b were included in this analysis. FPE was observed in 302 patients (36.1%). In multivariable analysis, hypertension (aOR 1.55, 95% CI 1.10-2.20) and lower baseline NIHSS score (aOR 0.95, 95% CI 0.93-0.97) were independently associated with an FPE. Good outcomes were more common in the FPE versus non-FPE group (72.8% vs 52.8%), and FPE was independently associated with favorable outcome (aOR 2.20, 95% CI 1.59-3.05). 90-day mortality and intracranial hemorrhage (ICH) were significantly lower in the FPE group, 0.43 (95% CI, 0.25-0.72) and 0.55 (95% CI, 0.39-0.77), respectively. CONCLUSION: Over 2/3 of patients with MeVOs and FPE in our cohort had a favorable outcome at 90 days. FPE is independently associated with favorable outcomes, it may reduce the risk of any intracranial hemorrhage, and 3-month mortality.
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Isquemia Encefálica , Acidente Vascular Cerebral , Humanos , Isquemia Encefálica/terapia , Estudos Retrospectivos , Trombectomia , Resultado do Tratamento , Hemorragias Intracranianas/etiologiaRESUMO
BACKGROUND: While mechanical thrombectomy is considered standard of care for large vessel occlusions, scientific evidence to support treatment for distal and medium vessel occlusions remains scarce. PURPOSE: To evaluate feasibility, safety, and outcomes in patients with low National Institute of Health Stroke Scale scores undergoing mechanical thrombectomy for treatment of distal medium vessel occlusions. MATERIALS AND METHODS: Retrospective data review and analysis of prospectively maintained databases at 41 academic centers in North America, Asia, and Europe between January 2017 and January 2022. Characteristics and outcomes were compared between groups with low stroke scale score (≤ 6) versus and higher stroke scale scores (> 6). Propensity score matching using the optimal pair matching method and 1:1 ratio was performed. RESULTS: Data were collected on a total of 1068 patients. After propensity score matching, there were a total of 676 patients included in the final analysis, with 338 patients in each group. High successful reperfusion rates were seen in both groups, 90.2% in ≤ 6 and 88.7% in the > 6 stroke scale groups. The frequency of excellent and good functional outcome was seen more common in low versus higher stroke scale score patients (64.5% and 81.1% versus 39.3% and 58.6%, respectively). The 90-day mortality rate observed in the ≤ 6 stroke scale group was 5.3% versus 13.3% in the > 6 stroke scale group. CONCLUSION: Mechanical thrombectomy in distal and medium vessel occlusions, specifically in patients with low stroke scale scores is feasible, though it may not necessarily improve outcomes over IVT.
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Trombectomia , Humanos , Masculino , Feminino , Idoso , Pessoa de Meia-Idade , Estudos Retrospectivos , Trombectomia/métodos , Idoso de 80 Anos ou mais , AVC Isquêmico/cirurgia , Resultado do Tratamento , Índice de Gravidade de Doença , Acidente Vascular Cerebral/cirurgia , Trombólise Mecânica , Estudos de ViabilidadeRESUMO
BACKGROUND: Mechanical thrombectomy (MT) has revolutionized the treatment of acute ischemic stroke (AIS) due to large vessel occlusion (LVO), but its efficacy and safety in medium vessel occlusion (MeVO) remain less explored. This multicenter, retrospective study aims to investigate the incidence and clinical outcomes of vessel perforations (confirmed by extravasation during an angiographic series) during MT for AIS caused by MeVO. METHODS: Data were collected from 37 academic centers across North America, Asia, and Europe between September 2017 and July 2021. A total of 1373 AIS patients with MeVO underwent MT. Baseline characteristics, procedural details, and clinical outcomes were analyzed. RESULTS: The incidence of vessel perforation was 4.8% (66/1373). Notably, our analysis indicates variations in perforation rates across different arterial segments: 8.9% in M3 segments, 4.3% in M2 segments, and 8.3% in A2 segments (p = 0.612). Patients with perforation had significantly worse outcomes, with lower rates of favorable angiographic outcomes (TICI 2c-3: 23% vs 58.9%, p < 0.001; TICI 2b-3: 56.5% vs 88.3%, p < 0.001). Functional outcomes were also worse in the perforation group (mRS 0-1 at 3 months: 22.7% vs 36.6%, p = 0.031; mRS 0-2 at 3 months: 28.8% vs 53.9%, p < 0.001). Mortality was higher in the perforation group (30.3% vs 16.8%, p = 0.008). CONCLUSION: This study reveals that while the occurrence of vessel perforation in MT for AIS due to MeVO is relatively rare, it is associated with poor functional outcomes and higher mortality. The findings highlight the need for increased caution and specialized training in performing MT for MeVO. Further prospective research is required for risk mitigation strategies.
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AVC Isquêmico , Trombectomia , Humanos , AVC Isquêmico/cirurgia , AVC Isquêmico/epidemiologia , AVC Isquêmico/terapia , Masculino , Estudos Retrospectivos , Feminino , Idoso , Pessoa de Meia-Idade , Incidência , Trombectomia/efeitos adversos , Trombectomia/métodos , Resultado do Tratamento , Idoso de 80 Anos ou maisRESUMO
BACKGROUND: The supreme anterior connecting artery (SAConnA) is an exceedingly rare anatomical variant. This artery may interconnect bilateral anterior cerebral arteries (ACAs), yet its existence and clinical implications are scarcely discussed in the literature. CASE DESCRIPTION: A 60-year-old man with no significant past medical or family history presented to our emergency department. He exhibited right homonymous hemianopsia and Gerstmann's syndrome. Cranial computed tomography indicated a left parietal lobar hemorrhage, and digital subtraction angiography revealed a flow-related aneurysm in the anterior communicating artery, with the arteriovenous malformation (AVM) receiving blood supply from the anterior, middle, and posterior cerebral arteries. Notably, the angiography also disclosed the presence of a SAConnA. We adopted a treatment approach of staged embolizations followed by resection. During the second session, the SAConnA was utilized for the embolization of feeding arteries within the ACA system. CONCLUSIONS: This case demonstrates that SAConnA can be associated with AVMs and can serve as an access route during AVM embolization. SAConnA may be a remnant artery interconnecting bilateral ACAs formed during early embryogenesis.
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We report a rare case of isolated internal carotid artery occlusion complicated by central retinal artery occlusion that was successfully treated with mechanical thrombectomy for internal carotid artery occlusion. A 59-year-old man visited the emergency room because of right monocular blindness. Magnetic resonance imaging showed multiple acute small embolic infarctions in the right frontal lobe, and magnetic resonance angiography revealed right internal carotid artery occlusion without the associated occlusion of the circle of Willis, which indicates the patency of the anterior and middle cerebral arteries. An electrocardiogram showed atrial fibrillation. Therefore, we performed mechanical thrombectomy with a stent retriever under continuous manual aspiration with a balloon-guiding catheter and confirmed complete recanalization, anterograde flow in the right ophthalmic artery, and retinal brush. The procedure was completed without complications, and the patient noticed an improvement in visual acuity immediately after the procedure. When a patient with atrial fibrillation complains of monocular blindness, it is important to consider internal carotid artery occlusion due to cardioembolism, to perform an examination promptly, and to consider early treatment, including mechanical thrombectomy.
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OBJECTIVE: Proximal internal carotid artery (ICA) ligation with high-flow bypass is an important vascular reconstructive technique for giant ICA aneurysms or skull base tumors involving the ICA to control intraoperative bleeding. Retrograde or collateral blood flow occasionally remains postoperatively and requires complete internal trapping. Although transgraft internal trapping is one of the options, there are few reports on transgraft treatment. The purpose of this study was to report our experience of transgraft internal trapping and evaluate the safety and efficacy of this procedure. METHODS: We retrospectively selected patients who underwent transgraft internal trapping after proximal ICA ligation with high-flow bypass between January 2012 and June 2020. RESULTS: We encountered five cases of this procedure (one aneurysm case and four tumor cases). The median duration between the bypass and transgraft internal trapping was 12 days. In four out of five cases, a guiding catheter could be placed in the graft. No disruption of the anastomosis was observed. Transgraft internal trapping was achieved in all five cases with detachable coils. All treatments could be completed safely without any adverse events, including ischemic and hemorrhagic complications. CONCLUSIONS: Transgraft internal trapping after proximal ICA ligation with high-flow bypass may be an option for preventing residual retrograde blood flow.
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Middle meningeal artery embolization (MMAE) for chronic subdural hematoma (CSDH) is a novel, minimally invasive treatment. The indications and treatment practices for MMAE are variable and remain controversial. This study aimed to evaluate a strategy involving sequential MMAE after burr hole surgery for treating recurrent CSDH. We performed a retrospective analysis of data from consecutive patients who had undergone MMAE using liquid embolic agents within approximately 2 weeks after burr hole surgery for recurrent CSDH from September 2020 to March 2022. We analyzed patient characteristics, procedural details, CSDH recurrence after MMAE, surgical rescue, and complications. Six of the nine patients who underwent MMAE for CSDH recurrence were male, and the median age was 85 (range, 70-94) years. Five of the nine patients were being administered antithrombotic agents. The median duration between the burr hole surgery and MMAE procedure was 10 (range, 3-25) days. Anterior and posterior convexity branches were targeted for embolization using low-concentration N-butyl cyanoacrylate (NBCA), and the abnormal vascular networks with a cotton wool appearance disappeared after embolization in all cases. The NBCA distribution was observed by high-resolution computed tomography during the procedure; in three of nine cases, the NBCA penetrated not only the MMA but also the inner membrane. No recurrence, surgical rescue, or complications were observed in any patient during the median follow-up period of 3 months. As a minimally invasive treatment for recurrent CSDH, sequential MMAE after burr hole surgery may be a safe and effective option for preventing recurrence.
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Embolização Terapêutica , Embucrilato , Hematoma Subdural Crônico , Humanos , Masculino , Idoso de 80 Anos ou mais , Feminino , Estudos Retrospectivos , Hematoma Subdural Crônico/diagnóstico por imagem , Hematoma Subdural Crônico/cirurgia , Artérias Meníngeas/diagnóstico por imagem , Artérias Meníngeas/cirurgia , Trepanação , Craniotomia/métodos , Embolização Terapêutica/métodosRESUMO
The genetic background of intracranial artery stenosis (ICAS), a major cause of ischemic stroke, remains elusive. We performed the world's first genome-wide association study (GWAS) of ICAS using DNA samples from Japanese subjects, to identify the genetic factors associated with ICAS and their correlation with clinical features. We also conducted a phenome-wide association study (PheWAS) of the top variant identified via GWAS to determine its association with systemic disease. The GWAS involved 408 patients with ICAS and 349 healthy controls and utilized an Asian Screening Array of venous blood samples. The PheWAS was performed using genotypic and phenotypic data of the Biobank Japan Project, which contained information on 46 diseases and 60 quantitative trait data from > 150,000 Japanese individuals. The GWAS revealed that the East Asian-specific functional variant of RNF213, rs112735431 (c.14429G > A, p.Arg4810Lys), was associated with ICAS (odds ratio, 12.3; 95% CI 5.5 to 27.5; P = 7.8 × 10-10). Stratified analysis within ICAS cases demonstrated that clinical features of those with and without the risk allele were different. PheWAS indicated that high blood pressure and angina were significantly associated with RNF213 rs112735431. The first GWAS of ICAS, which stratifies subpopulations within the ICAS cases with distinct clinical features, revealed that RNF213 rs112735431 was the most significant variant associated with ICAS. Thus, RNF213 rs112735431 shows potential as an important clinical biomarker that characterizes pleiotropic risk in various vascular diseases, such as blood pressure and angina, thereby facilitating personalized medicine for systemic vascular diseases in East Asian populations.
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Estudo de Associação Genômica Ampla , Doenças Vasculares , Humanos , Predisposição Genética para Doença/genética , Constrição Patológica/genética , Polimorfismo de Nucleotídeo Único/genética , Artérias , Adenosina Trifosfatases/genética , Ubiquitina-Proteína Ligases/genéticaRESUMO
Posterior inferior cerebellar artery (PICA) variations are well recognized; however, their mechanisms have not been well understood. Primitive lateral basilovertebral anastomosis (PLBA) was described in 1948 by Padget and is one of the embryological transient longitudinal channels in the hindbrain. This study reports a PICA aneurysm associated with PLBA. A 48-year-old man presented with subarachnoid hemorrhage. Cerebral angiography showed a 3.6-mm fusiform aneurysm with a bleb of the left PICA just at the origin of the PICA from the vertebral artery. Furthermore, a direct anterior inferior cerebellar artery (AICA)-PICA anastomosis parallel to the basilar artery was revealed. This direct anastomosis between the AICA and PICA is explained by the partial persistence of PLBA. Variations in the three cerebellar arteries and vertebrobasilar junction can be caused by persistence of PLBA.
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BACKGROUND: Endovascular mechanical thrombectomy (MT) has now evolved to become the standard treatment for acute ischemic stroke due to large vessel occlusion. Arterial perforation is a potential complication of MT, and the risk of this event during blind crossing the occlusion site has been elucidated. The intracranial arterial system shows morphological structural symmetry, so we investigated the utility of the bilateral symmetry of the proximal middle cerebral artery (MCA) as a preprocedural evaluation to predict hidden running course distal to the thrombus. METHODS: This study retrospectively analyzed 191 consecutive patients (mean age, 67.5 ± 15.5 years; 100 women) who underwent time-of-flight-magnetic resonance angiography in our institution. Four landmarks of the MCA were assessed: division pattern, early branching pattern, length, and course pattern. Each geometric property was compared between cerebral hemispheres. Frequencies of symmetry and symmetry breaking were assessed. RESULTS: In 91% (bifurcation type, 87%; trifurcation type, 4%), branching patterns of the left and right M1 were symmetrical. Early frontal and/or temporal branches were observed in 31%, and the presence/absence of early branches was symmetrical in 70% cases. In 19%, M1 was classified as short M1, and classifications were identical between hemispheres in 74%. Running course of the M1 was symmetrical in 63%. Two or more parameters were symmetrical in 181 cases (95%). CONCLUSIONS: The symmetry of bilateral M1-2 structures was demonstrated in most cases from the perspectives of 4 parameters. The MCA symmetry can predict the running course of the MCA before crossing the occlusion site and shows potential benefits for neurointerventionalists.
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AVC Isquêmico , Acidente Vascular Cerebral , Idoso , Idoso de 80 Anos ou mais , Angiografia Cerebral , Feminino , Humanos , Infarto da Artéria Cerebral Média/complicações , Infarto da Artéria Cerebral Média/diagnóstico por imagem , Infarto da Artéria Cerebral Média/cirurgia , Pessoa de Meia-Idade , Artéria Cerebral Média/diagnóstico por imagem , Artéria Cerebral Média/cirurgia , Projetos Piloto , Estudos Retrospectivos , Acidente Vascular Cerebral/terapia , Trombectomia , Resultado do TratamentoRESUMO
AIM: To present a substitute strategy for clipping: coil embolization of the ruptured aneurysm followed by intentional, staged clipping. CASE DESCRIPTION: We treated five cases of ruptured intracranial aneurysms with branches arising from the neck. The mean aneurysm diameter was 4.4 mm. In the acute rupture phase, coiling was performed without adjunctive endovascular techniques with intentional preservation of the neck in all cases. To treat recurrence during follow-up, the previously coiled aneurysm was clipped, which did not occasion any complications. Postoperative imaging showed completely obliterated aneurysms and preserved branches. No rebleeding occurred during the interval between coiling and clipping, and no rebleeding or recurrence occurred after clipping. No treatment-related complications occurred after coiling and clipping. CONCLUSION: This two-stage strategy may be effective for hemostasis and branch preservation for small- and medium-sized ruptured aneurysms with a branch arising from the neck. This intentional two-stage strategy can be a substitute strategy for clipping in the acute rupture phase with an acceptable outcome if the patient cannot undergo clipping as the first-line treatment.
Assuntos
Aneurisma Roto , Embolização Terapêutica , Procedimentos Endovasculares , Aneurisma Intracraniano , Hemorragia Subaracnóidea , Aneurisma Roto/diagnóstico por imagem , Aneurisma Roto/cirurgia , Embolização Terapêutica/métodos , Procedimentos Endovasculares/métodos , Humanos , Aneurisma Intracraniano/diagnóstico por imagem , Aneurisma Intracraniano/cirurgia , Hemorragia Subaracnóidea/diagnóstico por imagem , Hemorragia Subaracnóidea/etiologia , Hemorragia Subaracnóidea/cirurgia , Resultado do TratamentoRESUMO
Regardless of treatment, the clinical progression of neurofibromatosis type 2 (NF2), particularly in terms of hearing, swallowing, and gait, tend to worsen throughout the patients' lives. We performed a retrospective analysis of functional outcomes in Japanese NF2 patients to predict their functional prognosis. We analyzed genotype-phenotype correlation based on genetic data from a cohort of 57 patients with a mean follow-up of 14.5 ± 6.0 years. Their functional outcomes, including hearing, swallowing, and ambulation, were reviewed. Performing a targeted deep sequencing, germline NF2 mutations were identified in 28 patients (49.1%), and mosaic NF2 was identified in 20 patients (20, 35.0%). The functional preservation period and outcome differed significantly depending on clinical/genetic factors. Among these factors, "Truncating", "Mosaic", and "Age of symptom onset ≥ 25" had the most significant effects on functional disability. By applying a combination of an NF2 mutation type/location, and age of symptom onset, we classified different degrees of functional preservation and progression, schwannoma growth rate and total interventions per year per patient. The prediction of detailed functional outcomes in NF2 patients can plan better strategies for life-long disease management and social integration.
Assuntos
Neurofibromatose 2 , Estudos de Associação Genética , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Neurofibromatose 2/genética , Prognóstico , Estudos RetrospectivosRESUMO
NF2 alteration is the most commonly-found genetic abnormality in meningiomas and is known to initiate events for aggressive-type meningiomas. Whereas the prognosis of meningiomas differs depending on their epigenomic/transcriptomic profile, the effect of NF2 alteration on the prognosis of benign meningiomas is not fully elucidated. This study aimed to probe the importance of NF2 alteration in prognosis of WHO grade I meningiomas. A long-term retrospective follow-up (5.3 ± 4.5 years) study involving 281 consecutive WHO grade I meningioma patients was performed. We assessed tumour recurrence in correlation with extent of resection (EOR), histopathological findings, tumour location, and NF2 alteration. "NF2 meningioma" was defined as meningiomas with presence of NF2 mutation and/or 22q loss. Overall, NF2 meningioma per se was not a predictor of prognosis in the whole cohort; however, it was a predictor of recurrence in supratentorial meningiomas, together with EOR and Ki-67. In a striking contrast, NF2 meningioma showed a better prognosis than non-NF2 meningioma in infratentorial lesion. Supratentorial NF2 meningiomas had higher Ki-67 and forkhead box protein M1 expression than those of others, possibly explaining the worse prognosis in this subtype. The combination of NF2 alteration, high Ki-67 and supratentorial location defines subgroup with the worst prognosis among WHO grade I meningiomas. Clinical connotation of NF2 alteration in terms of prognosis of WHO grade I meningioma differs in an opposite way between supratentorial and infratentorial tumors. Integrated anatomical, histopathological, and genomic classifications will provide the best follow-up schedule and proactive measures.