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Cerebral cavernous malformation

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https://www.readbyqxmd.com/read/28892037/induction-and-micro-ct-imaging-of-cerebral-cavernous-malformations-in-mouse-model
#1
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
#2
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
#3
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...
August 29, 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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
https://www.readbyqxmd.com/read/28744689/pediatric-cerebellar-giant-cavernous-malformation-case-report-and-review-of-literature
#10
Javier Villaseñor-Ledezma, Marcelo Budke, Juan-Antonio Alvarez-Salgado, María-Angeles Cañizares, Luis Moreno, Francisco Villarejo
BACKGROUND AND IMPORTANCE: Giant cavernous malformations (GCM) are low flow, angiographically occult vascular lesions, with a diameter >4 cm. Cerebellar GCMs are extremely rare, with only seven cases reported based on English literature. These lesions are most commonly seen in the pediatric age group, which is known to have an increased risk of hemorrhage, being surgery clearly recommended. CLINICAL PRESENTATION: An 18-month-old girl presented with a 6-month history of cervical torticollis and upper extremities clumsiness...
July 25, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28731396/contralateral-posterior-interhemispheric-approach-to-deep-medial-parietooccipital-vascular-malformations-surgical-technique-and-results
#11
Jan-Karl Burkhardt, Ethan A Winkler, Michael T Lawton
OBJECTIVE Deep medial parietooccipital arteriovenous malformations (AVMs) and cerebral cavernous malformations (CCMs) are traditionally resected through an ipsilateral posterior interhemispheric approach (IPIA), which creates a deep, perpendicular perspective with limited access to the lateral margins of the lesion. The contralateral posterior interhemispheric approach (CPIA) flips the positioning, with the midline positioned horizontally for retraction due to gravity, but with the AVM on the upper side and the approach from the contralateral, lower side...
July 21, 2017: Journal of Neurosurgery
https://www.readbyqxmd.com/read/28721350/corrigendum-cerebral-cavernous-malformations-review-of-the-genetic-and-protein-protein-interactions-resulting-in-disease-pathogenesis
#12
Jacob F Baranoski, M Yashar S Kalani, Colin J Przybylowski, Joseph M Zabramski
[This corrects the article on p. 60 in vol. 3, PMID: 27896269.].
2017: Frontiers in Surgery
https://www.readbyqxmd.com/read/28695311/aberrant-paramagnetic-signals-outside-the-tumor-volume-on-routine-surveillance-mri-of-brain-tumor-patients
#13
Shlomit Yust-Katz, Edna Inbar, Natalia Michaeli, Dror Limon, Tali Siegal
Late complications of cerebral radiation therapy (RT) involve vascular injury with acquired cavernous malformation, telangiectasias and damage to vascular walls which are well recognized in children. Its incidence in adults is unknown. Blood products and iron deposition that accompany vascular injury create paramagnetic effects on MRI. This study retrospectively investigated the frequency of paramagnetic lesions on routine surveillance MRI of adult brain tumor patients. MRI studies of 115 brain tumor patients were reviewed...
July 10, 2017: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/28679101/cerebral-cavernous-malformations
#14
Ithamar Ganmore, Anat Achiron
A 59-year-old man presented to an outpatient clinic with a 1-year history of progressively worsening headaches. Neurologic examination was normal; skin examination revealed multiple hyperkeratotic papules and bluish, nodular skin lesions. Magnetic resonance imaging of the brain revealed numerous..
July 6, 2017: New England Journal of Medicine
https://www.readbyqxmd.com/read/28645800/high-throughput-sequencing-of-the-entire-genomic-regions-of-ccm1-krit1-ccm2-and-ccm3-pdcd10-to-search-for-pathogenic-deep-intronic-splice-mutations-in-cerebral-cavernous-malformations
#15
Matthias Rath, Sönke E Jenssen, Konrad Schwefel, Stefanie Spiegler, Dana Kleimeier, Christian Sperling, Lars Kaderali, Ute Felbor
Cerebral cavernous malformations (CCM) are vascular lesions of the central nervous system that can cause headaches, seizures and hemorrhagic stroke. Disease-associated mutations have been identified in three genes: CCM1/KRIT1, CCM2 and CCM3/PDCD10. The precise proportion of deep-intronic variants in these genes and their clinical relevance is yet unknown. Here, a long-range PCR (LR-PCR) approach for target enrichment of the entire genomic regions of the three genes was combined with next generation sequencing (NGS) to screen for coding and non-coding variants...
June 20, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28643038/prevalence-of-cerebral-cavernous-malformations-associated-with-developmental-venous-anomalies-increases-with-age
#16
Waleed Brinjikji, Ali El-Rida El-Masri, John T Wald, Kelly D Flemming, Giuseppe Lanzino
BACKGROUND AND PURPOSE: To test the hypothesis that the prevalence of cerebral cavernous malformation (CCM) associated with developmental venous anomalies (DVAs) increases with age, we studied the age-related prevalence of DVA-associated CCM among patients with DVAs. MATERIALS AND METHODS: Patients with DVAs on contrast-enhanced MRI exams performed over a 2-year period were included in this study. A single neuroradiologist reviewed all imaging exams for the presence of CCMs...
June 22, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28602929/hereditary-multiple-cerebral-cavernous-malformations-associated-with-wilson-disease-and-multiple-lipomatosis
#17
Olga B Belousova, Dmitry N Okishev, Tatyana M Ignatova, Maria S Balashova, Eugenia S Boulygina
We report on a patient with 2 Mendelian diseases-symptomatic multiple familial cerebral cavernous malformations (FCCMs) and Wilson disease. Genetic analysis revealed single nucleotide polymorphisms in genes CCM2 and CCM3, associated with cavernous malformations, and homozygote mutation in the ATP7B gene, responsible for Wilson disease. FCCMs were symptomatic in 3 generations. The patient also had multiple lipomatosis, which is suggested to be a familial syndrome. In recent years there has been an increasing amount of publications linking FCCMs with other pathology, predominantly with extracranial and intracranial mesenchymal anomalies...
September 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28590989/-it-s-not-a-tumor-a-rare-case-of-symptomatic-cerebellar-developmental-venous-anomaly
#18
Julie A Augenstein, Teresa Chapman, Michael J McNeil, Mark D Lo
Cerebral developmental venous anomalies (DVAs) are benign anatomical variants of the venous system and are commonly described as an incidental finding without clinical significance. Neurologic symptoms or abnormal examination findings are rare and usually attributed to hemorrhagic complications related to coexisting cavernous malformations. There have been limited case reports of symptomatic, uncomplicated DVAs described in the literature. The following case describes a previously healthy child who presented to the emergency department with an acute onset of altered mental status, headache, and focal neurologic examination abnormalities...
June 6, 2017: Pediatric Emergency Care
https://www.readbyqxmd.com/read/28552155/pharmacotherapy-for-cavernous-malformations
#19
Robert F Rudy, Rose Du
Cerebral cavernous malformations, vascular abnormalities comprised of endothelial cells in the absence of connective tissue or muscle, are often epileptogenic and often treated initially with antiepileptic drugs. This chapter discusses the role of pharmacotherapy in managing focal epilepsy secondary to cavernous malformations in adults, children, and pregnant women. Several drugs are available and potentially efficacious in suppressing seizures stemming from cavernous malformations. In addition, antiepileptic pharmacotherapy following surgical resection is indicated to decrease the risk of postoperative seizures...
2017: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/28552151/supratentorial-cavernous-malformations
#20
Jason A Ellis, Daniel L Barrow
Supratentorial cavernous malformations are uncommon cerebral vascular lesions that may present many unique challenges for treating physicians. The vast majority will be discovered during workup for seizures or after symptomatic intracerebral hemorrhage. Supratentorial cavernous malformations are increasingly being discovered incidentally in patients who obtain brain imaging for unrelated reasons. Management strategies including watchful waiting, antiepileptic drug therapy, microsurgery, or an expanding array of "minimally invasive" therapies...
2017: Handbook of Clinical Neurology
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