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Cerebral Cavernous Malformations

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https://www.readbyqxmd.com/read/28229997/pregnancy-combined-with-epilepsy-and-cerebral-cavernous-malformation
#1
Ya-Lan Xu, Jun-Tao Liu, Yi-Jun Song, Xi-Ya Zhou, Qing-Wei Qi, Xu-Ming Bian, Zhi-Qin Xu, Lei Li
No abstract text is available yet for this article.
2017: Chinese Medical Journal
https://www.readbyqxmd.com/read/28212190/endothelial-cell-disease-emerging-knowledge-from-cerebral-cavernous-malformations
#2
Maria Grazia Lampugnani, Matteo Malinverno, Elisabetta Dejana
PURPOSE OF REVIEW: Endothelial cells dysfunctions are crucial determinants of several human diseases. We review here the most recent reports on endothelial cell defects in cerebral cavernous malformations (CCMs), particularly focusing on adherens junctions. CCM is a vascular disease that affects specifically the venous microvessels of the central nervous system and which is caused by loss-of-function mutation in any one of the three CCM genes (CCM1, 2 or 3) in endothelial cells. The phenotypic result of these mutations are focal vascular malformations that are permeable and fragile causing neurological symptoms and occasionally haemorrhagic stroke...
February 16, 2017: Current Opinion in Hematology
https://www.readbyqxmd.com/read/28181149/genome-wide-sequencing-reveals-micrornas-downregulated-in-cerebral-cavernous-malformations
#3
Souvik Kar, Kiran Kumar Bali, Arpita Baisantry, Robert Geffers, Amir Samii, Helmut Bertalanffy
Cerebral cavernous malformations (CCM) are vascular lesions associated with loss-of-function mutations in one of the three genes encoding KRIT1 (CCM1), CCM2, and PDCD10. Recent understanding of the molecular mechanisms that lead to CCM development is limited. The role of microRNAs (miRNAs) has been demonstrated in vascular pathologies resulting in loss of tight junction proteins, increased vascular permeability and endothelial cell dysfunction. Since the relevance of miRNAs in CCM pathophysiology has not been elucidated, the primary aim of the study was to identify the miRNA-mRNA expression network associated with CCM...
February 8, 2017: Journal of Molecular Neuroscience: MN
https://www.readbyqxmd.com/read/28160210/a-novel-krit1-ccm1-gene-insertion-mutation-associated-with-cerebral-cavernous-malformations-in-a-chinese-family
#4
Hui Wang, Yunzhu Pan, Zaiqiang Zhang, Xingang Li, Zhe Xu, Yue Suo, Wei Li, Yongjun Wang
Familial cerebral cavernous malformation (FCCM) is a vascular malformation disorder that closely associated with three identified genes: KRIT1/CCM1, MGC4607/CCM2, and PDCD10/CCM3. Here, we present a Chinese family affected by FCCM due to a novel KRIT1/CCM1 insertion mutation. The proband was hospitalized for sudden unconsciousness and underwent surgical treatment. The section of lesions showed classical cavernous-dilated vessels without intervening brain parenchyma, and hemosiderin-laden macrophages were accumulated in the surrounding tissue...
February 3, 2017: Journal of Molecular Neuroscience: MN
https://www.readbyqxmd.com/read/28116327/constitutional-de-novo-and-postzygotic-mutations-in-isolated-cases-of-cerebral-cavernous-malformations
#5
Matthias Rath, Stefanie Spiegler, Neetika Nath, Konrad Schwefel, Nataliya Di Donato, Johannes Gerber, G Christoph Korenke, Yorck Hellenbroich, Ute Hehr, Stephanie Gross, Ulrich Sure, Barbara Zoll, Eberhard Gilberg, Lars Kaderali, Ute Felbor
BACKGROUND: Cerebral cavernous malformations (CCM) are vascular lesions of the central nervous system that can be found in sporadic or autosomal dominantly inherited forms and manifest with headaches, seizures, and hemorrhagic stroke. The precise proportion of de novo mutations in the CCM1,CCM2, and CCM3 genes remains unknown. METHODS: We here present a series of six trios with de novo mutations that have been analyzed by amplicon deep sequencing to differentiate between constitutional and postzygotic mutations...
January 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28087183/co-expression-of-tissue-factor-and-il-6-in-immature-endothelial-cells-of-cerebral-cavernous-malformations
#6
Shouhei Noshiro, Takeshi Mikami, Yuko Kataoka-Sasaki, Masanori Sasaki, Hirofumi Ohnishi, Shunya Ohtaki, Masahiko Wanibuchi, Nobuhiro Mikuni, Jeffery D Kocsis, Osamu Honmou
Cerebral cavernous malformations (CCMs) are congenital abnormal clusters of capillaries that are prone to leaking and thought to result from a disorder of endothelial cells. The underlying pathology of CCM is not fully understood. We analyzed the expression of tissue factor (TF) and interleukin-6 (IL-6) in CCMs to determine the association of TF and IL-6 with clinical and pathological findings. Thirteen cases of operative specimens of sporadic CCMs were included in this study. The expression of messenger RNA of TF and IL-6 was assayed and the association with clinical factors was investigated...
March 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/28068754/intraventricular-cavernous-malformation-review-of-the-literature-and-report-of-three-cases-with-neuroendoscopic-resection
#7
Masoud Shirvani, Alireza Hajimirzabeigi
Intraventricular cavernomas (IVCs) are extremely infrequent and only occur in 2.8 to 10% of patients with cerebral cavernomas. We describe three IVC cases and briefly review previously documented IVC cases in PubMed. Among 136 IVC cases, the mean age of the patients was 36.5 years; the male-to-female ratio was 0.8. The most frequent location was the lateral ventricle (52.6%), and most of the clinical symptoms (74%) were related to mass effects on adjacent brain tissues. Intraventricular hemorrhage occurred in 22...
January 9, 2017: Journal of Neurological Surgery. Part A, Central European Neurosurgery
https://www.readbyqxmd.com/read/28003363/nuclear-localization-of-integrin-cytoplasmic-domain-associated-protein-1-icap1-influences-%C3%AE-1-integrin-activation-and-recruits-krev-interaction-trapped-1-krit1-to-the-nucleus
#8
Kyle M Draheim, Clotilde Huet-Calderwood, Bertrand Simon, David A Calderwood
Binding of ICAP1 (integrin cytoplasmic domain-associated protein-1) to the cytoplasmic tails of β1 integrins inhibits integrin activation. ICAP1 also binds to KRIT1 (Krev interaction trapped-1), a protein whose loss of function leads to cerebral cavernous malformation, a cerebrovascular dysplasia occurring in up to 0.5% of the population. We previously showed that KRIT1 functions as a switch for β1 integrin activation by antagonizing ICAP1-mediated inhibition of integrin activation. Here we use overexpression studies, mutagenesis, and flow cytometry to show that ICAP1 contains a functional nuclear localization signal and that nuclear localization impairs the ability of ICAP1 to suppress integrin activation...
February 3, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28000143/update-on-novel-ccm-gene-mutations-in-patients-with-cerebral-cavernous-malformations
#9
Concetta Scimone, Placido Bramanti, Concetta Alafaci, Francesca Granata, Francesco Piva, Carmela Rinaldi, Luigi Donato, Federica Greco, Antonina Sidoti, Rosalia D'Angelo
Cerebral cavernous malformations (CCMs) are lesions affecting brain microvessels. The pathogenesis is not clearly understood. Conventional classification criterion is based on genetics, and thus, familial and sporadic forms can be distinguished; however, classification of sporadic cases with multiple lesions still remains uncertain. To date, three CCM causative genes have been identified: CCM1/KRIT1, CCM2/MGC4607 and CCM3/PDCD10. In our previous mutation screening, performed in a cohort of 95 Italian patients, with both sporadic and familial cases, we identified several mutations in CCM genes...
December 20, 2016: Journal of Molecular Neuroscience: MN
https://www.readbyqxmd.com/read/27959970/magnetic-resonance-thermometry-guided-stereotactic-laser-ablation-of-cavernous-malformations-in-drug-resistant-epilepsy-imaging-and-clinical-results
#10
D Jay McCracken, Jon T Willie, Brad Fernald, Amit M Saindane, Daniel L Drane, Daniel L Barrow, Robert E Gross
BACKGROUND: Surgery is indicated for cerebral cavernous malformations (CCM) that cause medically refractory epilepsy. Real-time magnetic resonance thermography (MRT)-guided stereotactic laser ablation (SLA) is a minimally invasive approach to treating focal brain lesions. SLA of CCM has not previously been described. OBJECTIVE: To describe MRT-guided SLA, a novel approach to treating CCM-related epilepsy, with respect to feasibility, safety, imaging, and seizure control in 5 consecutive patients...
March 2016: Operative Neurosurgery (Hagerstown, Md.)
https://www.readbyqxmd.com/read/27923033/erratum-endothelial-exocytosis-of-angiopoietin-2-resulting-from-ccm3-deficiency-contributes-to-cerebral-cavernous-malformation
#11
Huanjiao Jenny Zhou, Lingfeng Qin, Haifeng Zhang, Wenwen Tang, Weidong Ji, Yun He, Xiaoling Liang, Zongren Wang, Qianying Yuan, Alexander Vortmeyer, Derek Toomre, Germaine Fuh, Minghong Yan, Martin S Kluger, Dianqing Wu, Wang Min
No abstract text is available yet for this article.
December 6, 2016: Nature Medicine
https://www.readbyqxmd.com/read/27915116/7t-mr-of-intracranial-pathology-preliminary-observations-and-comparisons-to-3t-and-1-5t
#12
Emmanuel C Obusez, Mark Lowe, Se-Hong Oh, Irene Wang, Jennifer Bullen, Paul Ruggieri, Virginia Hill, Daniel Lockwood, Todd Emch, Doksu Moon, Gareth Loy, Jonathan Lee, Matthew Kiczek, Manoj Massand, Volodymyr Statsevych, Todd Stultz, Stephen E Jones
PURPOSE: There have been an increasing number of studies involving ultra-high-field 7T of intracranial pathology, however, comprehensive clinical studies of neuropathology at 7T still remain limited. 7T has the advantage of a higher signal-to-noise ratio and a higher contrast-to-noise ratio, compared to current low field clinical MR scanners. We hypothesized 7T applied clinically, may improve detection and characterization of intracranial pathology. MATERIALS AND METHODS: We performed an IRB-approved 7T prospective study of patients with neurological disease who previously had lower field 3T and 1...
November 30, 2016: NeuroImage
https://www.readbyqxmd.com/read/27896269/cerebral-cavernous-malformations-review-of-the-genetic-and-protein-protein-interactions-resulting-in-disease-pathogenesis
#13
REVIEW
Jacob F Baranoski, M Yashar S Kalani, Colin J Przybylowski, Joseph M Zabramski
Mutations in the genes KRIT1, CCM2, and PDCD10 are known to result in the formation of cerebral cavernous malformations (CCMs). CCMs are intracranial lesions composed of aberrantly enlarged "cavernous" endothelial channels that can result in cerebral hemorrhage, seizures, and neurologic deficits. Although these genes have been known to be associated with CCMs since the 1990s, numerous discoveries have been made that better elucidate how they and their subsequent protein products are involved in CCM pathogenesis...
2016: Frontiers in Surgery
https://www.readbyqxmd.com/read/27879448/rhoa-kinase-inhibition-with-fasudil-versus-simvastatin-in-murine-models-of-cerebral-cavernous-malformations
#14
Robert Shenkar, Changbin Shi, Cecilia Austin, Thomas Moore, Rhonda Lightle, Ying Cao, Lingjiao Zhang, Meijing Wu, Hussein A Zeineddine, Romuald Girard, David A McDonald, Autumn Rorrer, Carol Gallione, Peter Pytel, James K Liao, Douglas A Marchuk, Issam A Awad
BACKGROUND AND PURPOSE: We sought to compare the effect of chronic treatment with commonly tolerated doses of Fasudil, a specific RhoA kinase (ROCK) inhibitor, and simvastatin (with pleiotropic effects including ROCK inhibition) on cerebral cavernous malformation (CCM) genesis and maturation in 2 models that recapitulate the human disease. METHODS: Two heterozygous murine models, Ccm1(+/-)Msh2(-)(/-) and Ccm2(+/-)Trp53(-/-), were treated from weaning to 4 to 5 months of age with Fasudil (100 mg/kg per day), simvastatin (40 mg/kg per day) or with placebo...
January 2017: Stroke; a Journal of Cerebral Circulation
https://www.readbyqxmd.com/read/27834594/clinical-course-of-untreated-thalamic-cavernous-malformations-hemorrhage-risk-and-neurological-outcomes
#15
Kai-Bing Tian, Jing-Jie Zheng, Jun-Peng Ma, Shu-Yu Hao, Liang Wang, Li-Wei Zhang, Zhen Wu, Jun-Ting Zhang, Da Li
OBJECTIVE The natural history of cerebral cavernous malformations (CMs) has been widely studied, but the clinical course of untreated thalamic CMs is largely unknown. Hemorrhage of these lesions can be devastating. The authors undertook this study to obtain a prospective hemorrhage rate and provide a better understanding of the prognosis of untreated thalamic CMs. METHODS This longitudinal cohort study included patients with thalamic CMs who were diagnosed between 2000 and 2015. Clinical data were recorded, radiological studies were extensively reviewed, and follow-up evaluations were performed...
November 11, 2016: Journal of Neurosurgery
https://www.readbyqxmd.com/read/27816341/stroke-prevention
#16
REVIEW
Clothilde Isabel, David Calvet, Jean-Louis Mas
Patients who have had a stroke are at high risk for recurrent stroke, myocardial infarction, and vascular death. Prevention of these events should be initiated promptly after stroke, because many recurrent events occur early, and should be tailored to the precise cause of stroke, which may require specific treatment. Lifestyle advice including abstinence from smoking, regular exercise, Mediterranean-style diet, and reduction of salt intake and alcohol consumption are recommended for all patients with stroke...
December 2016: La Presse Médicale
https://www.readbyqxmd.com/read/27807006/rho-binding-to-fam65a-regulates-golgi-reorientation-during-cell-migration
#17
Faraz K Mardakheh, Annette Self, Christopher J Marshall
Directional cell migration involves reorientation of the secretory machinery. However, the molecular mechanisms that control this reorientation are not well characterised. Here, we identify a new Rho effector protein, named FAM65A, which binds to active RHOA, RHOB and RHOC. FAM65A links RHO proteins to Golgi-localising cerebral cavernous malformation-3 protein (CCM3; also known as PDCD10) and its interacting proteins mammalian STE20-like protein kinases 3 and 4 (MST3 and MST4; also known as STK24 and STK26, respectively)...
December 15, 2016: Journal of Cell Science
https://www.readbyqxmd.com/read/27797778/network-based-analysis-of-omics-data-the-lean-method
#18
Frederik Gwinner, Gwénola Boulday, Claire Vandiedonck, Minh Arnould, Cécile Cardoso, Iryna Nikolayeva, Oriol Guitart-Pla, Cécile V Denis, Olivier D Christophe, Johann Beghain, Elisabeth Tournier-Lasserve, Benno Schwikowski
MOTIVATION: Most computational approaches for the analysis of omics data in the context of interaction networks have very long running times, provide single or partial, often heuristic, solutions, and/or contain user-tuneable parameters. RESULTS: We introduce local enrichment analysis (LEAN) for the identification of dysregulated subnetworks from genome-wide omics data sets. By substituting the common subnetwork model with a simpler local subnetwork model, LEAN allows exact, parameter-free, efficient, and exhaustive identification of local subnetworks that are statistically dysregulated, and directly implicates single genes for follow-up experiments...
October 26, 2016: Bioinformatics
https://www.readbyqxmd.com/read/27792856/review-of-familial-cerebral-cavernous-malformations-and-report-of-seven-additional-families
#19
REVIEW
Ivo J H M de Vos, Maaike Vreeburg, Ger H Koek, Maurice A M van Steensel
Cerebral cavernous malformations are vascular anomalies of the central nervous system characterized by clusters of enlarged, leaky capillaries. They are caused by loss-of-function mutations in KRIT1, CCM2, or PDCD10. The proteins encoded by these genes are involved in four partially interconnected signaling pathways that control angiogenesis and endothelial permeability. Cerebral cavernous malformations can occur sporadically, or as a familial autosomal dominant disorder (FCCM) with incomplete clinical and neuroradiological penetrance and great inter-individual variability...
February 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27790124/cerebral-cavernous-malformation-a-portuguese-family-with-a-novel-ccm1-mutation
#20
João Pedro Marto, Inês Gil, Sofia Calado, Miguel Viana-Baptista
INTRODUCTION: Cerebral cavernous malformation (CCM) is a vascular disorder characterized by the presence of central nervous system cavernomas. In familial forms, mutations in three genes (CCM1/KRIT1, CCM2/MGC4607 and CCM3/PDCD10) were identified. We describe a Portuguese family harboring a novel CCM1 mutation. CASE PRESENTATION: The proband is a woman who at the age of 55 years started to have complex partial seizures and episodic headache. Although nothing was found during her neurological examination, brain MRI showed bilateral, supra- and infratentorial cavernomas...
September 2016: Case Reports in Neurology
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