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OBJECTIVE: The characteristics of pregnancy and delivery in patients with moyamoya disease (MMD) remain unclear. We retrospectively investigated perinatal outcomes in patients with MMD to evaluate the risks associated to this condition. MATERIALS AND METHODS: Clinical data of women with MMD who delivered at the University of Tokyo Hospital between 2000 and 2021 were collected. Maternal characteristics including genetic data, obstetric complications, method of delivery and anesthesia, neonatal outcomes, neurological events during pregnancy, delivery, and postpartum course, were reviewed. RESULTS: Thirteen pregnancies with MMD were identified. The median maternal age was 30 years. The initial clinical symptoms were identified as transient ischemic attack, infarction, and headache. Eight patients had a history of bypass surgery. The median gestational age at delivery was 37 weeks. DNA samples were collected from five patients, responsible for six pregnancies. Of these six cases, five had the RNF213 c.14429G > A (p.Arg4810Lys) heterozygous variant. Of the 13 pregnancies, seven had hypertensive disorder of pregnancy (HDP). Additionally, three of five pregnancy cases with RNF213 p.Arg4810Lys heterozygous variant presented with HDP. Nine patients underwent cesarean section, and four delivered vaginally with epidural anesthesia. One case of ischemic stroke was confirmed during the postpartum period. Regarding newborns, neither Apgar scores lower than 7 nor neonatal intensive care unit admissions were reported. CONCLUSIONS: This study suggests that the frequency of HDP is higher in patients with MMD compared to those with normal pregnancies. Strict blood pressure control should be performed in patients with MMD during pregnancy and postpartum period.
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PURPOSE: Glioblastoma (GBM) is the most common type of primary malignant brain tumor and has a poor prognosis. Identifying novel targets and stratification strategies is urgently needed to improve patient survival. The present study aimed to identify clinically relevant genomic alterations in IDH-wildtype GBM using data from comprehensive genomic profiling (CGP) assays performed nationwide in Japan. METHODS: The CGP assay results of 392 IDH-wildtype GBM cases performed between October 2019 and February 2023 obtained from the Center for Cancer Genomics and Advanced Therapeutics were retrospectively analyzed. RESULTS: The median patient age was 52.5 years, and 207 patients (53%) were male. In the 286 patients for whom survival information was available, a protein-tyrosine phosphatase non-receptor type 11 (PTPN11) variant detected in 20 patients (6.8%) was extracted as the gene associated with significantly shorter overall survival (p = 0.002). Multivariate analysis demonstrated that the PTPN11 variant and poor performance status were independent prognostic indicators. In contrast, no prognostic impact was observed in the cohort in The Cancer Genome Atlas data. The discrepancy in the prognostic impact of the PTPN11 variant from these two pools might have resulted from differences in the biases affecting the survival of patients who underwent a CGP assay, including left-truncation and right-censored bias. However, survival simulation done to adjust for these biases showed that the prognostic impact of the PTPN11 variant was also significant. CONCLUSIONS: The PTPN11 variant was a negative prognostic indicator of IDH-wildtype GBM in the patient cohort with the CGP assay.
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Neoplasias Encefálicas , Glioblastoma , Humanos , Masculino , Persona de Mediana Edad , Femenino , Glioblastoma/patología , Estudios Retrospectivos , Monoéster Fosfórico Hidrolasas/genética , Neoplasias Encefálicas/patología , Pronóstico , Isocitrato Deshidrogenasa/genética , Mutación , Proteína Tirosina Fosfatasa no Receptora Tipo 11/genéticaRESUMEN
OBJECTIVE: Prevention of rebleeding events is crucial for patients with hemorrhagic moyamoya disease (MMD), as these increase the risk of mortality. Bypass surgery is effective in preventing subsequent hemorrhage, particularly in patients with posterior hemorrhage, but its efficacy in those with anterior hemorrhage remains unclear. We analyzed the effects of surgical intervention, stroke risk factors, and radiological features on rebleeding events. METHODS: Patients with hemorrhagic-onset MMD who were followed at our institution between 2000 and 2022 were included (41 adult patients, 45 hemispheres). Baseline characteristics and radiological features (anterior or posterior hemorrhagic site, Suzuki grade, posterior cerebral artery involvement, and periventricular anastomosis) were thoroughly reviewed. RESULTS: Of the 45 hemispheres, hemorrhage developed in 9 (20%) hemispheres, with a median duration until rebleeding of 38 (range: 1-44) months. Rebleeding rates were significantly lower in the surgical group than in the nonsurgical group (odds ratio: 0.09; 95% confidence interval [CI]: 0.01-0.79; P = 0.011), and Kaplan-Meier analysis revealed a significantly longer interval between bleeding events in the surgical group (1.3%/y vs. 5.3%/y; P = 0.002), especially in the anterior hemorrhage group (1.3%/y vs. 5.1%/y; P = 0.019). The hazard ratio of surgical intervention for rebleeding with initial anterior hemorrhage was 0.11 (95% CI: 0.01-0.98; P = 0.048). In the nonsurgical group, the presence of hypertension shortened the time to subsequent hemorrhage (P = 0.004). CONCLUSIONS: Surgical intervention may decrease the risk of rebleeding in hemorrhagic onset MMD patients, even in those presenting with anterior hemorrhage. Hypertension was a significant risk factor for rebleeding in nonsurgical patients.
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Revascularización Cerebral , Hipertensión , Enfermedad de Moyamoya , Adulto , Humanos , Enfermedad de Moyamoya/complicaciones , Enfermedad de Moyamoya/diagnóstico por imagen , Enfermedad de Moyamoya/cirugía , Hemorragia Cerebral/diagnóstico por imagen , Hemorragia Cerebral/cirugía , Hemorragia Cerebral/etiología , Resultado del Tratamiento , Revascularización Cerebral/efectos adversos , Hipertensión/complicacionesRESUMEN
PURPOSE: Leptomeningeal metastasis (LM) is a complication of surgery for brain metastasis and is a risk factor of poor prognosis. The risk of LM is particularly high after surgery for a breast cancer metastasis to the brain. If the risk of LM after surgical resection for a brain metastasis were predictable, appropriate adjuvant therapy could be administered to individual patients to improve their prognosis. The present study aimed to reveal the genetic characteristics of brain metastases as means of predicting LM in breast cancer patients. METHODS: Ten patients with brain metastases of breast cancer presented LM after surgical resection were analyzed by whole-exome sequencing. RESULTS: A chromodomain-helicase-DNA-binding protein 5 (CHD5) gene alteration was detected in nine cases (90%), including a nonsynonymous variant in four cases and copy number deletion in five cases. CHD5 protein expression was lost in nine cases and had decreased in one case. The frequency of CHD5 gene alteration in brain metastases with LM was significantly higher than in primary breast cancer (2.3%) or in brain metastases of breast cancer (0%) (p < 0.0001). CONCLUSIONS: These results suggested that the CHD5 gene alteration was associated with LM after surgical resection of breast cancer brain metastases. Searching for the gene alteration might predict the LM risk after surgical resection.
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Neoplasias Encefálicas , Neoplasias de la Mama , Carcinomatosis Meníngea , Humanos , Femenino , Neoplasias de la Mama/genética , Neoplasias de la Mama/cirugía , Neoplasias de la Mama/patología , Neoplasias Encefálicas/genética , Neoplasias Encefálicas/cirugía , Neoplasias Encefálicas/secundario , Carcinomatosis Meníngea/secundario , Pronóstico , ADN Helicasas/metabolismo , Proteínas del Tejido Nervioso/genéticaRESUMEN
Several studies have reported the coexistence of chronic subdural hematoma (CSDH) and dural arteriovenous fistula (DAVF); however, the association between these two entities remains unknown. A case of coexisting CSDH and DAVF that was successfully treated with burr hole surgery and middle meningeal artery (MMA) embolization is reported herein. We visualized the positional relationship between CSDH and DAVF by fusion three-dimensional computer graphics images reconstructed from multimodal imaging studies, which revealed that the shunt point of the DAVF was far from the burr hole and was in contact with the CSDH membrane at the center of the CSDH. Additionally, the chronological development of CSDH in the presence of DAVF and the complete disappearance of both DAVF and CSDH after MMA embolization were also demonstrated. This study suggests a possible association between recurrent CSDH and DAVF.
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BACKGROUND: The precise etiology of dural arteriovenous fistula (DAVF) is still unknown. The authors reported a case of delayed postoperative sigmoid sinus (SS) DAVF secondary to SS thrombosis after resection of a foramen magnum meningioma through a suboccipital craniotomy. OBSERVATIONS: The authors visualized the clear architecture of the DAVF using fusion three-dimensional computer graphics (3DCG) images reconstructed from multimodal imaging studies. These fusion 3DCG images revealed that the feeders of the DAVF had connected through neovascularization to the SS at the previous thrombus site. The authors also reviewed previously reported cases of DAVFs that developed after craniotomy. LESSONS: This study indicated that SS stenosis and occlusion with sinus thrombosis are possible risk factors for delayed postoperative DAVF that demand special consideration.
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Background: A duplicated middle cerebral artery (DMCA) is an anatomical variant that includes duplication of the middle cerebral artery (MCA) and an anomalous vessel originating between the anterior choroidal artery (AChA) and the distal end of the internal carotid artery (ICA). Here, we present a case report of an ICA aneurysm with a DMCA and the AChA originating from the dome, which was successfully treated with clipping. Case Description: In a 64-year-old man, preoperative angiography revealed an unruptured right ICA aneurysm with a maximum diameter of 4.3 mm, and fusion three-dimensional computer graphics revealed that a DMCA and the AChA originated from the dome. The aneurysm enlarged; therefore, clipping was performed. The closure of the aneurysm while preserving the patency of the DMCA and AChA was identified using intraoperative microvascular Doppler ultrasonography and indocyanine green video angiography. The postoperative course was uneventful, and no ischemic lesions were confirmed on MR imaging. Conclusion: To the best of our knowledge, this is the first report of an ICA aneurysm with a DMCA and the AChA arising from the dome. In such cases, the anatomy of the DMCA and AChA should be well-characterized before treatment.
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The treatment for middle cerebral artery subocclusive thrombi is not standardized. Here, we report a case of M1 subocclusive thrombus with lateral lenticulostriate artery occlusion that was successfully treated with mechanical thrombectomy. This article describes a treatment strategy for M1 subocclusive thrombus, focusing on the indications for mechanical thrombectomy. A 58-year-old male on admission for pneumonia had a sudden onset of dysarthria and motor deficits. He has a history of dilated cardiomyopathy and underwent left ventricular assist device implantation 3 years ago. At onset, his National Institutes of Health Stroke Scale (NIHSS) score was nine. Computed tomography angiography demonstrated a filling defect in the distal right M1 segment of the middle cerebral artery. Angiography confirmed the presence of a subocclusive thrombus within the distal right M1 segment, although peripheral blood flow was maintained. Mechanical thrombectomy was performed for the M1 subocclusive thrombus using a direct aspiration first-pass technique, resulting in successful aspiration of the thrombus on the first pass. After the procedure, recanalization of the lateral lenticulostriate artery was detected, and the patient demonstrated full recovery (NIHSS score 0). Mechanical thrombectomy can be considered as a treatment option in cases of acute ischemic stroke caused by M1 subocclusive thrombus with lateral lenticulostriate artery occlusion, which presents with a high NIHSS score or neurological deterioration.
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BACKGROUND: Middle meningeal artery (MMA) embolization can be a treatment option for selected cases of chronic subdural hematoma (CSDH) patients. However, appropriate timing of this procedure or the conditions to be considered are still not standardized. METHODS: Between 2008 and 2018, 18 symptomatic CSDH patients underwent MMA embolization at our institution. The timing of embolization and the risk factors for recurrence of CSDH, the recurrence rate after an embolization, and the complication were thoroughly reviewed. RESULTS: Of the 18 cases, 16 patients were male. The median age at MMA embolization was 78.5 years (range, 66-98 years). The median follow-up period were eight months (range, 2-53 months). Possible risk factors for CSDH recurrence harbored by those patients were age > 74 yrs (10), brain atrophy (4), separated hematoma (3), coagulopathy (3), anticoagulant administration (3), and thrombocytopenia (1). No recurrence or complication was observed in any of the patients after the embolization. CONCLUSIONS: MMA embolization is effective and safe in preventing recurrence of CSDH with high risk of recurrence, and could be a standard treatment for such cases.
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Encéfalo/diagnóstico por imagen , Embolización Terapéutica/métodos , Hematoma Subdural Crónico/terapia , Arterias Meníngeas/cirugía , Anciano , Anciano de 80 o más Años , Drenaje , Femenino , Hematoma Subdural Crónico/diagnóstico por imagen , Humanos , Masculino , Arterias Meníngeas/diagnóstico por imagen , Recurrencia , Prevención Secundaria , Tomografía Computarizada por Rayos X , Resultado del TratamientoRESUMEN
Arteriovenous malformations (AVM) are congenital vascular lesions fed by arterial feeders originating from branches of the internal carotid artery (ICA) or vertebrobasilar artery. We experienced unique AVMs arising in the midline Galenic region, receiving blood supply from the ICA/vertebral artery systems and the external carotid artery system. We retrospectively reviewed data on eight patients who had an AVM arising in the Galenic region and were treated in the University of Tokyo Hospital between 1990 and 2019. The median age at diagnosis was 62 years. Three cases (38%) presented with obstructive hydrocephalus due to aqueduct obstruction caused by an engorged vein of Galen. In all cases, feeders from dural arteries were present and the vein of Galen was the primary drainer. All patients underwent stereotactic radiosurgery. Five patients were followed for > two years; nidus obliteration was confirmed in one, and > 75% shrinkage was confirmed in three, while one patient died due to hemorrhage. Altogether, AVMs arising in the Galenic region are rare and exhibit several peculiar characteristics including the presence of dural feeders, an older age at presentation and presentation with obstructive hydrocephalus.