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Cerebral cavernous malformation

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https://www.readbyqxmd.com/read/29331747/dural-based-cavernous-malformation-at-the-cerebral-convexity-report-of-two-pediatric-patients
#1
Guichen Li, Xuan Zhai, Yang Zhang, Ping Liang, Xuanxuan Wu, Kun Hou
BACKGROUND: Intracranial (cavernous malformations) CMs are usually located at the cerebral parenchyma, dural-based CMs outside the middle fossa are rarely reported. To our knowledge, dural-based CMs located at the cerebral convexity are even rarer that only two pediatric cases were ever reported. In this report, we present two extremely rare cases of dural-based CMs at the cerebral convexity in pediatric patients. The clinical course, radiological and pathological features, treatment, and follow-up are described...
January 10, 2018: World Neurosurgery
https://www.readbyqxmd.com/read/29298444/human-malformation-syndromes-of-defective-gli-opposite-phenotypes-of-2q14-2-gli2-and-7p14-2-gli3-microdeletions-and-a-glia-r-balance-model
#2
Yo Niida, Mika Inoue, Mamoru Ozaki, Etsuko Takase
GLI family zinc finger proteins are transcriptional effectors of the sonic hedgehog signaling pathway. GLI regulates gene expression and repression at various phases of embryonic morphogenesis. In humans, 4 GLI genes are known, and GLI2 (2q14.2) and GLI3 (7p14.1) mutations cause different syndromes. Here, we present 2 distinctive cases with a chromosomal microdeletion in one of these genes. Patient 1 is a 14-year-old girl with Culler-Jones syndrome. She manifested short stature, cleft palate, and mild intellectual/social disability caused by a 6...
January 4, 2018: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/29295866/connexin-43-gap-junctions-contribute-to-brain-endothelial-barrier-hyperpermeability-in-familial-cerebral-cavernous-malformations-type-iii-by-modulating-tight-junction-structure
#3
Allison M Johnson, James P Roach, Anna Hu, Svetlana M Stamatovic, Michal R Zochowski, Richard F Keep, Anuska V Andjelkovic
Familial cerebral cavernous malformations type III (fCCM3) is a disease of the cerebrovascular system caused by loss-of-function mutations in ccm3 that result in dilated capillary beds that are susceptible to hemorrhage. Before hemorrhage, fCCM3 lesions are characterized by a hyperpermeable blood-brain barrier (BBB), the key pathologic feature of fCCM3. We demonstrate that connexin 43 (Cx43), a gap junction (GJ) protein that is incorporated into the BBB junction complex, is up-regulated in lesions of a murine model of fCCM3...
January 2, 2018: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/29236895/multiple-sporadic-cerebral-cavernous-malformations
#4
Rodrigo Alencar E Silva, Thadeu Alexandre Paulino de Souza, Thiago Cardoso Vale
No abstract text is available yet for this article.
December 2017: Arquivos de Neuro-psiquiatria
https://www.readbyqxmd.com/read/29197946/first-large-genomic-inversion-in-familial-cerebral-cavernous-malformation-identified-by-whole-genome-sequencing
#5
Stefanie Spiegler, Matthias Rath, Sabine Hoffjan, Philipp Dammann, Ulrich Sure, Axel Pagenstecher, Tim Strom, Ute Felbor
Familial cerebral cavernous malformations (CCMs) predispose to seizures and hemorrhagic stroke. Molecular genetic analyses of CCM1, CCM2, and CCM3 result in a mutation detection rate of up to 98%. However, only whole genome sequencing (WGS) in combination with the Manta algorithm for analyses of structural variants revealed a heterozygous 24 kB inversion including exon 1 of CCM2 in a 12-year-old boy with familial CCMs. Its breakpoints were fine-mapped, and quantitative analysis on RNA confirmed reduced CCM2 expression...
December 2, 2017: Neurogenetics
https://www.readbyqxmd.com/read/29175574/surgical-management-and-long-term-seizure-outcome-after-surgery-for-temporal-lobe-epilepsy-associated-with-cerebral-cavernous-malformations
#6
Peng-Fan Yang, Jia-Sheng Pei, Yan-Zeng Jia, Qiao Lin, Hui Xiao, Ting-Ting Zhang, Zhong-Hui Zhong
OBJECTIVE: Operative strategies for cerebral cavernous malformation (CCM)-associated temporal lobe epilepsy and timing of surgical intervention have continued under debate. This study aimed to establish an algorithm to evaluate efficacy of surgical intervention strategies, which maximizes positive surgical outcomes and minimizes post-surgical neurological deficits. METHODS: 47 subjects having undergone operation for CCM-associated temporal lobe epilepsy were retrospectively reviewed...
November 22, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/29170092/krit1-loss-of-function-induces-a-chronic-nrf2-mediated-adaptive-homeostasis-that-sensitizes-cells-to-oxidative-stress-implication-for-cerebral-cavernous-malformation-disease
#7
Cinzia Antognelli, Eliana Trapani, Simona Delle Monache, Martina Daga, Stefania Pizzimenti, Giuseppina Barrera, Paola Cassoni, Adriano Angelucci, Lorenza Trabalzini, Vincenzo Nicola Talesa, Luca Goitre, Saverio Francesco Retta
KRIT1 (CCM1) is a disease gene responsible for Cerebral Cavernous Malformations (CCM), a major cerebrovascular disease of proven genetic origin affecting 0.3-0.5% of the population. Previously, we demonstrated that KRIT1 loss-of-function is associated with altered redox homeostasis and abnormal activation of the redox-sensitive transcription factor c-Jun, which collectively result in pro-oxidative, pro-inflammatory and pro-angiogenic effects, suggesting a novel pathogenic mechanism for CCM disease and raising the possibility that KRIT1 loss-of-function exerts pleiotropic effects on multiple redox-sensitive mechanisms...
November 20, 2017: Free Radical Biology & Medicine
https://www.readbyqxmd.com/read/29169046/a-novel-ccm1-krit1-heterozygous-deletion-mutation-c-1919delt-in-a-chinese-family-with-familial-cerebral-cavernous-malformation
#8
Chenlong Yang, Bingquan Wu, Haohao Zhong, Yan Li, Xingzheng Zheng, Yulun Xu
BACKGROUND: Cerebral cavernous malformation (CCM) is a relatively rare congenital vascular anomaly in the central venous system. Its inherited form, familial cerebral cavernous malformation (FCCM), is an autosomal-dominant disease with incomplete penetrance. The pathogenic genes of FCCM have been mapped into three loci: CCM1/KRIT1, CCM2/MGC4607, and CCM3/PDCD10. Till now, the genetic basis of FCCM in the Chinese population has yet to be well understood. Herein, we investigated the genetic mutation in a Chinese family with FCCM...
November 20, 2017: Clinical Neurology and Neurosurgery
https://www.readbyqxmd.com/read/29154751/the-etiology-of-spontaneous-intracerebralhemorrhage-insights-from-a-neuropathological-series
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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