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Cerebral cavernous malformation

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https://www.readbyqxmd.com/read/29154751/the-etiology-of-spontaneous-intracerebralhemorrhage-insights-from-a-neuropathological-series
#1
Luis Ruano, Mariana Branco, Raquel Samões, Ricardo Taipa, Manuel Melo Pires
The etiology of intracerebral hemorrhage (ICH) is frequently undetermined. We aimed to assess the impact of the neuropathological study on the etiologic diagnosis of ICH. Patients with ICH admitted to a tertiary hospital in the last 14 years were identified, and histological samples of surgically-drained ICH were retrieved. Blinded from neuropathological results, a clinical etiology was hypothesized. Pathological samples were reviewed, and immunohistochemistry study for β-amyloid was performed in all the cases where structural abnormalities were not identified...
November 20, 2017: Clinical Neuropathology
https://www.readbyqxmd.com/read/29145060/familial-cerebral-cavernous-malformation-report-of-a-novel-krit1-mutation-in-a-portuguese-family
#2
Inês Rosário Marques, Francisco Antunes, Nadine Ferreira, Miguel Grunho
Cerebral cavernous malformations (CCMs) are vascular malformations which may occur in familial forms which have autosomal dominant inheritance. Mutations have been identified in three genes: KRIT1, MGC4607 and PDCD10. We have documented a novel mutation on KRIT1 gene, and the second to be reported in a Portuguese family. This mutation consists in a two nucleotide insertion (c.947_948insAC) within the exon 10, resulting in premature protein termination (p.Leu317Argfs*2). These findings will hopefully contribute to a better clinical, imaging and genetic characterisation of this disease, particularly while trying to identify the factors that influence its treatment and prognosis...
November 10, 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/29110746/lead-promotes-abnormal-angiogenesis-induced-by-ccm3-gene-defects-via-mitochondrial-pathway
#3
Y Sun, H Zhang, X Xing, Z Zhao, J He, J Li, J Chen, M Wang, Y He
Lead is one of the environmental pollutants with cardiovascular toxicity. The embryos are particularly sensitive to lead exposure, because it can move through the blood-placental barrier and the blood-brain barrier easily during embryonic development. Cerebral cavernous malformations 3 (CCM3) gene plays an important role in cardiovascular development, mainly affecting cell proliferation, differentiation and apoptosis. In this study, we established a blood vessel development model of mouse embryos in order to imitate human people with CCM3 genes defects and exposing to environment toxin Pb in utero...
November 7, 2017: Journal of Developmental Origins of Health and Disease
https://www.readbyqxmd.com/read/29099298/contralateral-anterior-interhemispheric-transcallosal-transrostral-approach-to-the-subcallosal-region-a-novel-surgical-technique
#4
Feres Chaddad-Neto, Marcos Devanir Silva da Costa, Baran Bozkurt, Hugo Leonardo Doria-Netto, Daniel de Araujo Paz, Ricardo da Silva Centeno, Andrew W Grande, Sergio Cavalheiro, Kaan Yağmurlu, Robert F Spetzler, Mark C Preul
OBJECTIVE The authors report a novel surgical route from a superior anatomical aspect-the contralateral anterior interhemispheric-transcallosal-transrostral approach-to a lesion located in the subcallosal region. The neurosurgical approach to the subcallosal region is challenging due to its deep location and close relationship with important vascular structures. Anterior and inferior routes to the subcallosal region have been described but risk damaging the branches of the anterior cerebral artery. METHODS Three formalin-fixed and silicone-injected adult cadaveric heads were studied to demonstrate the relationships between the transventricular surgical approach and the subcallosal region...
November 3, 2017: Journal of Neurosurgery
https://www.readbyqxmd.com/read/29030748/neuroimaging-of-cavernous-malformations
#5
REVIEW
Maxim Mokin, Siviero Agazzi, Lowell Dawson, Christopher T Primiani
PURPOSE OF REVIEW: Cerebral cavernous malformations (CCMs) are common vascular abnormalities often discovered on imaging as an incidental finding. The most common clinical presentations of CCMs include seizure, headache, focal neurological deficits, and intracranial hemorrhage. This article discusses the most recent guidelines including imaging diagnostic criteria and radiographic standards of CCMs and reviews the utility of currently available imaging techniques. RECENT FINDINGS: Gradient echo T2*-weighted imaging and susceptibility-weighted imaging are the recommended imaging protocols for evaluation of suspected CCMs...
October 13, 2017: Current Pain and Headache Reports
https://www.readbyqxmd.com/read/29026674/chronic-headache-caused-by-a-titanium-fixation-plate-report-of-two-cases
#6
Shigeomi Yokoya, Akihiko Hino, Hideki Oka
BACKGROUND: We report two patients with chronic postcraniotomy headache who showed rapid alleviation of pain after removal of titanium miniplates. CASE DESCRIPTION: (Case 1) A 26-year-old woman underwent a right frontal craniotomy and excision of the entire cerebral cavernous malformation. Eleven years later, she developed headache. The titanium plate was removed and the patient presented complete amelioration of headache. (Case 2) A 50-year-old man underwent an aneurysm clipping via the lateral supraorbital approach of the left side...
2017: Surgical Neurology International
https://www.readbyqxmd.com/read/29026673/endoscopic-management-of-a-cavernous-malformation-on-the-floor-of-third-ventricle-and-aqueduct-of-sylvius-technical-case-report-and-review-of-the-literature
#7
Luis Alberto Ortega-Porcayo, Alexander Perdomo-Pantoja, Isaac Jair Palacios-Ortíz, Salomon Cohen Cohen, Juan Pablo González-Mosqueda, Juan Luis Gómez-Amador
BACKGROUND: Intraventricular cavernous malformations are unusual intracranial vascular malformations; their deep anatomical location complicates their surgical management. Microsurgical approaches are the gold standard approaches for the resection of ventricular lesions, however, they imply considerable neurovascular risks. CASE DESCRIPTION: A 51-year-old patient presented with acute headache, diplopia, vertigo, blurred vision, and a depressed level of consciousness...
2017: Surgical Neurology International
https://www.readbyqxmd.com/read/29017984/superficial-siderosis-associated-with-a-pineal-cavernous-malformation
#8
Takafumi Ogura, Atsushi Kambe, Makoto Sakamoto, Yuki Shinohara, Toshihide Ogawa, Masamichi Kurosaki
BACKGROUND: Cavernous malformations in the pineal region are very rare and are difficult to anticipate from preoperative evaluation in patients with pineal apoplexy. We herein report the first case of a pineal cavernous malformation with superficial siderosis. Radiological findings were helpful in identifying the presence of the cavernous malformation. CASE DESCRIPTION: A 47-year-old female presented with a 4-month history of progressive headache, nausea, and dizziness...
October 7, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28970240/thrombospondin1-tsp1-replacement-prevents-cerebral-cavernous-malformations
#9
Miguel Alejandro Lopez-Ramirez, Gregory Fonseca, Hussein A Zeineddine, Romuald Girard, Thomas Moore, Angela Pham, Ying Cao, Robert Shenkar, Bart-Jan de Kreuk, Frederic Lagarrigue, Jack Lawler, Christopher K Glass, Issam A Awad, Mark H Ginsberg
KRIT1 mutations are the most common cause of cerebral cavernous malformation (CCM). Acute Krit1 gene inactivation in mouse brain microvascular endothelial cells (BMECs) changes expression of multiple genes involved in vascular development. These changes include suppression of Thbs1, which encodes thrombospondin1 (TSP1) and has been ascribed to KLF2- and KLF4-mediated repression of Thbs1 In vitro reconstitution of TSP1 with either full-length TSP1 or 3TSR, an anti-angiogenic TSP1 fragment, suppresses heightened vascular endothelial growth factor signaling and preserves BMEC tight junctions...
November 6, 2017: Journal of Experimental Medicine
https://www.readbyqxmd.com/read/28968597/cerebral-cavernous-malformations-patient-reported-outcome-validates-conservative-management
#10
Vitor Chehuen Bicalho, Anke Bergmann, Flávio Domingues, João Thiago Frossard, Jorge Paes Barreto Marcondes de Souza
BACKGROUND: Cerebral cavernous malformations (CCM) are clusters of dilated sinusoidal channels lined by a single layer of endothelium. In contradistinction to arteriovenous malformations, these lesions do not have smooth muscle or elastin in their lining and they are angiographically occult, and the MRI is the most sensitive test for CCM detection. CCM are one of the most prevalent vascular malformations of the central nervous system, affecting about 0.4-0.6% of the general population...
October 3, 2017: Cerebrovascular Diseases
https://www.readbyqxmd.com/read/28963191/deregulated-tgf-%C3%AE-bmp-signaling-in-vascular-malformations
#11
REVIEW
Sara I Cunha, Peetra U Magnusson, Elisabetta Dejana, Maria Grazia Lampugnani
Correct organization of the vascular tree requires the balanced activities of several signaling pathways that regulate tubulogenesis and vascular branching, elongation, and pruning. When this balance is lost, the vessels can be malformed and fragile, and they can lose arteriovenous differentiation. In this review, we concentrate on the transforming growth factor (TGF)-β/bone morphogenetic protein (BMP) pathway, which is one of the most important and complex signaling systems in vascular development. Inactivation of these pathways can lead to altered vascular organization in the embryo...
September 29, 2017: Circulation Research
https://www.readbyqxmd.com/read/28892037/induction-and-micro-ct-imaging-of-cerebral-cavernous-malformations-in-mouse-model
#12
Jaesung P Choi, Xi Yang, Matthew Foley, Xian Wang, Xiangjian Zheng
Mutations in the CCM1 (aka KRIT1), CCM2, or CCM3 (aka PDCD10) gene cause cerebral cavernous malformation (CCM) in humans. Mouse models of CCM disease have been established by tamoxifen induced deletion of Ccm genes in postnatal animals. These mouse models provide invaluable tools to investigate molecular mechanism and therapeutic approaches for CCM disease. An accurate and quantitative method to assess lesion burden and progression is essential to harness the full value of these animal models. Here, we demonstrate the induction of CCM disease in a mouse model and the use of the contrast enhanced X-ray micro computed tomography (micro-CT) method to measure CCM lesion burden in mouse brains...
September 4, 2017: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/28870584/relevance-of-ccm-gene-polymorphisms-for-clinical-management-of-sporadic-cerebral-cavernous-malformations
#13
Carmela Rinaldi, Placido Bramanti, Concetta Scimone, Luigi Donato, Concetta Alafaci, Rosalia D'Angelo, Antonina Sidoti
Cerebral cavernous malformations (CCMs) are clusters of capillaries in the brain that may cause focal deficits or seizures in affected patients. They occur in both sporadic and inherited autosomal dominant form. Germline mutations in CCM1, CCM2 and CCM3 were identified in familial cases. Over the past 13years we performed sequencing and MLPA of the CCM genes in all sporadic and familial CCM cases coming from some hospital clinics of Neurology and Neurosurgery of Messina and other Italian cities. Our results showed that CCM sporadic patients, negative for previously reported CCM gene causative mutations, always carried known CCM polymorphisms...
September 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28851747/vascular-endothelial-ve-cadherin-endothelial-adherens-junctions-and-vascular-disease
#14
Maria Grazia Lampugnani, Elisabetta Dejana, Costanza Giampietro
Endothelial cell-cell adherens junctions (AJs) supervise fundamental vascular functions, such as the control of permeability and transmigration of circulating leukocytes, and the maintenance of existing vessels and formation of new ones. These processes are often dysregulated in pathologies. However, the evidence that links dysfunction of endothelial AJs to human pathologies is mostly correlative. In this review, we present an update of the molecular organization of AJ complexes in endothelial cells (ECs) that is mainly based on observations from experimental models...
September 28, 2017: Cold Spring Harbor Perspectives in Biology
https://www.readbyqxmd.com/read/28844916/long-term-outcomes-of-surgical-treatment-in181-patients-with-supratentorial-cerebral-cavernous-malformation-associated-epilepsy
#15
Kangmin He, Shize Jiang, Zehan Wu, Liang Chen, Ying Mao
OBJECTIVE: To evaluate the efficacy of surgery as a treatment for supratentorial cerebral cavernous malformation-associated epilepsy (SCCMAE) and determine the factors that influence outcomes. METHODS: During the 5year period from2005 to 2009, this study included 181 consecutive patients who were diagnosed with SCCMAE and surgically treated in a single institute. Each patient was followed up for at least 5 years post-operatively. A time-to-event analysis was performed using Kaplan-Meier curves and Cox regression models to evaluate the associated risk factors...
August 24, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28819935/plasma-biomarkers-of-inflammation-reflect-seizures-and-hemorrhagic-activity-of-cerebral-cavernous-malformations
#16
Romuald Girard, Hussein A Zeineddine, Maged D Fam, Anoop Mayampurath, Ying Cao, Changbin Shi, Robert Shenkar, Sean P Polster, Michael Jesselson, Ryan Duggan, Abdul-Ghani Mikati, Gregory Christoforidis, Jorge Andrade, Kevin J Whitehead, Dean Y Li, Issam A Awad
The clinical course of cerebral cavernous malformations (CCMs) is highly variable. Based on recent discoveries implicating angiogenic and inflammatory mechanisms, we hypothesized that serum biomarkers might reflect chronic or acute disease activity. This single-site prospective observational cohort study included 85 CCM patients, in whom 24 a priori chosen plasma biomarkers were quantified and analyzed in relation to established clinical and imaging parameters of disease categorization and severity. We subsequently validated the positive correlations in longitudinal follow-up of 49 subjects...
August 17, 2017: Translational Stroke Research
https://www.readbyqxmd.com/read/28811547/up-regulation-of-nadph-oxidase-mediated-redox-signaling-contributes-to-the-loss-of-barrier-function-in-krit1-deficient-endothelium
#17
Luca Goitre, Peter V DiStefano, Andrea Moglia, Nicholas Nobiletti, Eva Baldini, Lorenza Trabalzini, Julie Keubel, Eliana Trapani, Vladimir V Shuvaev, Vladimir R Muzykantov, Ingrid H Sarelius, Saverio Francesco Retta, Angela J Glading
The intracellular scaffold KRIT1/CCM1 is an established regulator of vascular barrier function. Loss of KRIT1 leads to decreased microvessel barrier function and to the development of the vascular disorder Cerebral Cavernous Malformation (CCM). However, how loss of KRIT1 causes the subsequent deficit in barrier function remains undefined. Previous studies have shown that loss of KRIT1 increases the production of reactive oxygen species (ROS) and exacerbates vascular permeability triggered by several inflammatory stimuli, but not TNF-α...
August 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28791783/quantitative-susceptibility-mapping-as-a-monitoring-biomarker-in-cerebral-cavernous-malformations-with-recent-hemorrhage
#18
Hussein A Zeineddine, Romuald Girard, Ying Cao, Nicholas Hobson, Maged D Fam, Agnieszka Stadnik, Huan Tan, Jingjing Shen, Kiranj Chaudagar, Robert Shenkar, Richard E Thompson, Nichol McBee, Daniel Hanley, Timothy Carroll, Gregory A Christoforidis, Issam A Awad
BACKGROUND: Quantitative Susceptibility Mapping (QSM) MRI allows accurate assessment of iron content in cerebral cavernous malformations (CCM), and a threshold increase by 6% in QSM has been shown to reflect new symptomatic hemorrhage (SH) in previously stable lesions. PURPOSE/HYPOTHESIS: It is unclear how lesional QSM evolves in CCMs after recent SH, and whether this could serve as a monitoring biomarker in clinical trials aimed at preventing rebleeding in these lesions...
August 9, 2017: Journal of Magnetic Resonance Imaging: JMRI
https://www.readbyqxmd.com/read/28768818/sofia-intermediate-catheter-and-the-snake-technique-safety-and-efficacy-of-the-sofia-catheter-without-guidewire-or-microcatheter-construct
#19
Jeremy J Heit, Johnny Hy Wong, Adrienne M Mofaff, Nicholas A Telischak, Robert L Dodd, Michael P Marks, Huy M Do
BACKGROUND: Neurointerventional surgeries (NIS) benefit from supportive endovascular constructs. Sofia is a soft-tipped, flexible, braided single lumen intermediate catheter designed for NIS. Sofia advancement from the cervical to the intracranial circulation without a luminal guidewire or microcatheter construct has not been described. OBJECTIVE: To evaluate the efficacy and safety of the new Sofia Non-wire Advancement techniKE (SNAKE) for advancement of the Sofia into the cerebral circulation...
August 2, 2017: Journal of Neurointerventional Surgery
https://www.readbyqxmd.com/read/28745674/-gene-mutations-in-patients-with-hereditary-cavernous-malformations
#20
O B Belousova, E S Bulygina, D N Okishev, E B Prohorchuk, S V Tsygankova, I N Pronin, L V Shishkina, M V Ryzhova, K G Skryabin, A N Konovalov
AIM: To identify mutations in cerebral cavernous malformation (CCM) genes in patients with hereditary and sporadic CCMs in the Russian population. MATERIAL AND METHODS: Blood samples from 73 randomly selected patients, including 29 MRI-confirmed familial cases, 8 clinically confirmed familial cases and 38 so-called sporadic cases, were examined. A search for large deletions/duplications was performed using multiplex ligation-dependent probe amplification (MPLA)...
2017: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
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