De Novo Arteriovenous Malformation after Aneurysm Clipping.
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ABSTRACT:
SUBMITTER: Shidoh S
PROVIDER: S-EPMC5566691 | biostudies-other | 2017 Jul
REPOSITORIES: biostudies-other
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Project description:Background Stereotactic radiosurgery plays a critical role in the treatment of central nervous system neoplasm and cerebrovascular malformations. This procedure is purportedly less invasive, but problems occurring later including tumor formation, necrosis, and vasculopathy-related diseases have been reported. Clinical Presentation We report on a 65-year-old man who had experienced a de novo aneurysm in an irradiated field and an acute onset of right hemiparesis and aphasia. He had undergone gamma knife radiosurgery to treat an arteriovenous malformation 15 and 12 years prior, with 18 and 22 Gy marginal doses. At current admission, radiologic studies showed a de novo aneurysm in the irradiated field without recurrence of malformation. The aneurysm was resected. Histologic findings showed a disruption of the internal elastic lamina accompanied by fibrous degeneration. Conclusion Stereotactic radiosurgery is a promising treatment tool, but long-term risks have not been fully researched. The treatment procedure for benign lesions should be chosen prudently.
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Project description:Arteriovenous malformations (AVMs) are vascular anomalies where arteries and veins are directly connected through a complex, tangled web of abnormal arteries and veins instead of a normal capillary network. AVMs in the brain, lung, and visceral organs, including the liver and gastrointestinal tract, result in considerable morbidity and mortality. AVMs are the underlying cause of three major clinical symptoms of a genetic vascular dysplasia termed hereditary hemorrhagic telangiectasia (HHT), which is characterized by recurrent nosebleeds, mucocutaneous telangiectases, and visceral AVMs and caused by mutations in one of several genes, including activin receptor-like kinase 1 (ALK1). It remains unknown why and how selective blood vessels form AVMs, and there have been technical limitations to observing the initial stages of AVM formation. Here we present in vivo evidence that physiological or environmental factors such as wounds in addition to the genetic ablation are required for Alk1-deficient vessels to develop to AVMs in adult mice. Using the dorsal skinfold window chamber system, we have demonstrated for what we believe to be the first time the entire course of AVM formation in subdermal blood vessels by using intravital bright-field images, hyperspectral imaging, fluorescence recordings of direct arterial flow through the AV shunts, and vascular casting techniques. We believe our data provide novel insights into the pathogenetic mechanisms of HHT and potential therapeutic approaches.
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Project description:Cerebral arteriovenous malformations (AVMs) are the most common vascular malformations worldwide and the leading cause of hemorrhagic strokes that result in crippling neurological deficits. Here, using newly generated mouse model, we discovered that genome-wide ocuppancy of H4K8ac and H3K27me3 decreased in mouse cerebral AVMs.
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Project description:BACKGROUND:Pulmonary arteriovenous malformations are abnormal direct connections between the pulmonary artery and pulmonary vein which result in a right-to-left shunt. They are associated with substantial morbidity and mortality mainly from the effects of paradoxical emboli. Potential complications include stroke, cerebral abscess, pulmonary haemorrhage and hypoxaemia. Embolisation is an endovascular intervention based on the occlusion of the feeding arteries the pulmonary arteriovenous malformations thus eliminating the abnormal right-to-left-shunting. This is an update of a previously published review. OBJECTIVES:To determine the efficacy and safety of embolisation in patients with pulmonary arteriovenous malformations including a comparison with surgical resection and different embolisation devices. SEARCH METHODS:We searched the Cystic Fibrosis and Genetic Disorders Group's Trials Register; date of last search: 10 April 2017.We also searched the following databases: the Australian New Zealand Clinical Trials Registry; ClinicalTrials.gov; International Standard Randomised Controlled Trial Number Register; International Clinical Trials Registry Platform Search Portal (last searched 27 August 2017). to be updatedWe checked cross-references and searched references from review articles. SELECTION CRITERIA:Trials in which individuals with pulmonary arteriovenous malformations were randomly allocated to embolisation compared to no treatment, surgical resection or embolisation using a different embolisation device. DATA COLLECTION AND ANALYSIS:Studies identified for potential inclusion were independently assessed for eligibility by two authors, with excluded studies further checked by a third author. No trials were identified for inclusion in the review and hence no analysis was performed. MAIN RESULTS:There were no randomised controlled trials included in the review; one ongoing trial has been identified which may be eligible for inclusion in the future. AUTHORS' CONCLUSIONS:There is no evidence from randomised controlled trials for embolisation of pulmonary arteriovenous malformations. However, randomised controlled trials are not always feasible on ethical grounds. Accumulated data from observational studies suggest that embolisation is a safe procedure which reduces morbidity and mortality. A standardised approach to reporting with long-term follow-up through registry studies can help to strengthen the evidence for embolisation in the absence of randomised controlled trials.
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Project description:Aneurysm clipping requires the proficiency of several skills, yet the traditional way of practicing them has been recently challenged. The use of simulators could be an alternative educational tool. The aim of this data analysis is to provide further evaluation of a reusable low-cost 3D printed training model we developed for aneurysm clipping [1]. The simulator was designed to replicate the bone structure, arteries and targeted aneurysms. Thirty-two neurosurgery residents performed a craniotomy and aneurysm clipping using the model and then filled out a survey. The survey was designed in two parts: a 5-point Likert scale questionnaire and three questions requiring written responses [1]. Two dimensions of the model were evaluated by the questionnaire: the face validity, assessed by 5 questions about the realism of the model, and the content validity, assessed by 6 questions regarding the usefulness of the model during the different steps of the training procedure. The three questions requiring written responses referred to the strengths and weaknesses of the simulator and a global yes/no question as to whether or not they would repeat the experience. Demographic data, experience level and survey responses of the residents were grouped in a dataset [2]. A descriptive analysis was performed for each dimension. Then, the groups were compared according to their level of expertise (Junior and Senior groups) with an independent sample t-test. A Confirmatory Factor Analysis (CFA) was estimated, using a Weighted Least Squares Mean Variance adjusted (WLSMV) which works best for the ordinal data [3]. Fitness was calculated using chi-square (χ2) test, Comparative Fit Index (CFI), Tucker-Lewis Index (TLI), and the Root Mean Square Error of Approximation (RMSEA). A non-significant χ2, CFI and TLI greater than 0.90 and RMSEA < 0.08 were considered an acceptable fit [4]. All data analysis was performed using IBM SPSS 23.0 statistical software. Data are reported as mean + standard deviation (SD). A probability p < 0.05 was considered significant. Exploratory Factor Analysis was done to explore the factorial structure of the 11-items scale in the sample, first we performed a principal components analysis. The Kaiser-Meyer-Olkin measure verified the sampling adequacy for the analysis (KMO = 0.784; Bartlett's Test of Sphericity χ2 (55) = 243.44, p < .001), indicating correlation is adequate for factor analysis. Considering Eigen values greater than 1, a two-factor solution explained 73.1% of the variance but left one item in factor 2 (Q 11). The results of this factor analysis are presented in Table 1. Confirmatory Factor Analysis, considering only the 10 items in the first factor (removing question 11 of our model), was performed. This model reached the following fit: χ2 (35) = 38.821, p > .05; CFI = 0.997; TLI = 0.996; RMSEA 0.058, without any error terms to exhibit covariance. Regarding the reliability of the questionnaire, the internal consistency was explored in the 10 items selected in the confirmatory factor analysis with an alpha coefficient (α = 0.941).
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Project description:Somatic activating MAP2K1 mutations in endothelial cells (ECs) cause extracranial arteriovenous malformation (AVM). We previously reported the generation of a mouse line allowing inducible expression of constitutively active MAP2K1 (p.K57N) from the Rosa locus (R26GT-Map2k1-GFP/+) and showed, using Tg-Cdh5CreER, that EC expression of mutant MAP2K1 is sufficient for the development of vascular malformations in the brain, ear, and intestines. To gain further insight into the mechanism by which mutant MAP2K1 drives AVM development, we induced MAP2K1 (p.K57N) expression in ECs of postnatal-day-1 pups (P1) and investigated the changes in gene expression in P9 brain ECs by RNA-seq. We found that over-expression of MAP2K1 altered the transcript abundance of > 1600 genes. Several genes had > 20-fold changes between MAP2K1 expressing and wild-type ECs; the highest were Col15a1 (39-fold) and Itgb3 (24-fold). Increased expression of COL15A1 in R26GT-Map2k1-GFP/+; Tg-Cdh5CreER+/- brain ECs was validated by immunostaining. Ontology showed that differentially expressed genes were involved in processes important for vasculogenesis (e.g., cell migration, adhesion, extracellular matrix organization, tube formation, angiogenesis). Understanding how these genes and pathways contribute to AVM formation will help identify targets for therapeutic intervention.
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Project description:Background and purposeDo children have an increased risk for brain arteriovenous malformation (AVM) recurrence compared with adults and does this risk vary depending on initial presentation with AVM rupture?MethodsWe retrospectively studied 115 patients initially presenting with brain AVM under age 25 years who underwent complete surgical resection of the AVM as documented by digital subtraction angiography (DSA) and had delayed follow-up DSA to evaluate for AVM recurrence after apparent initial cure.ResultsThe mean time from baseline DSA to follow-up DSA was 2.3 years, ranging from 0 to 15 years. Twelve patients (10.4% of the 115 patient cohort and 16.7% of 72 patients with hemorrhage at initial presentation) demonstrated AVM recurrence on follow-up DSA. All patients with recurrence initially presented with intracranial hemorrhage, and intracranial hemorrhage was a significant predictor of recurrence (log rank P=0.037). Among patients with initial hemorrhage, the 5-year recurrence rate was 17.8% (95% CI, 8.3%-35.7%). All recurrences occurred in patients who were children at the time of their initial presentation; the oldest was 15 years of age at the time of initial AVM surgery. The 5-year recurrence rate for children (0-18 years of age) with an initial presentation of hemorrhage was 21.4% (95% CI, 10.1%-41.9%). Using Cox regression, we found the risk of AVM recurrence decreased by 14% per each year increase in age at the time of initial surgical resection (hazard ratio=0.86 [95% CI, 0.75-0.99]; P=0.031).ConclusionsThere is a high rate of recurrence of apparently cured brain AVMs in children who initially present with AVM rupture. Imaging follow-up is warranted to prevent re-rupture.
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