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Cerebral Cavernous Malformations

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https://www.readbyqxmd.com/read/29747348/-cerebral-cavernous-malformation-3-gene-deficiency-promotes-early-changes-in-alzheimer-disease-like-lesions-induced-by-low-lead-exposure
#1
S Wu, D Xia, H X Liu, H P Zhao, X H Wang, Y F Gao, Z Q Zhao, C Xiao, X M Xing, Y He
Objective: To investigate the effects of cerebral cavernous malformation 3 (CCM3) gene knockout on the lead exposure-induced blood-brain barrier malfunction in mice brain, and the relationship between CCM3 knockout and the Alzheimer's disease (AD). Methods: Wide type (WT) mice and CCM3(+)/- mice were divided into 4 groups, control group and lead exposed group in WT as well as CCM3(+/-) mice. Lead exposed groups were treated with 0.05% lead acetate in drinking water for 12 weeks, while control group drink deionized water freely...
May 6, 2018: Zhonghua Yu Fang Yi Xue za Zhi [Chinese Journal of Preventive Medicine]
https://www.readbyqxmd.com/read/29720384/plasma-biomarkers-of-inflammation-and-angiogenesis-predict-cerebral-cavernous-malformation-symptomatic-hemorrhage-or-lesional-growth
#2
Romuald Girard, Hussein A Zeineddine, Janne Koskimaki, Maged D Fam, Ying Cao, Changbin Shi, Thomas J Moore, Rhonda Lightle, Agnieszka Stadnik, Kiranj K Chaudager, Sean P Polster, Robert Shenkar, Ryan C Duggan, David Leclerc, Kevin J Whitehead, Dean Li, Issam A Awad
<u>Rationale:</u> The clinical course of cerebral cavernous malformations (CCMs) is highly unpredictable, with few cross-sectional studies correlating pro-inflammatory genotypes and plasma biomarkers with prior disease severity. <u>Objective:</u> We hypothesize that a panel of 24 candidate plasma biomarkers, with a reported role in the physiopathology of CCMs, may predict subsequent clinically relevant disease activity. <u>Methods and Results:</u> Plasma biomarkers were assessed in non-fasting peripheral venous blood collected from consecutive CCM subjects followed for one year after initial sample collection...
May 2, 2018: Circulation Research
https://www.readbyqxmd.com/read/29677701/surgical-treatment-and-long-term-outcome-of-cerebral-cavernous-malformations-related-epilepsy-in-pediatric-patients
#3
Qiao Lin, Peng-Fan Yang, Yan-Zeng Jia, Jia-Sheng Pei, Hui Xiao, Ting-Ting Zhang, Zhong-Hui Zhong, Shou-Sen Wang
Cerebral cavernous malformations (CMs) are vascular malformations affecting any part of the central nervous system. Clinical data and surgical outcomes for 27 pediatric patients with CM-related epilepsy were retrospectively reviewed. The mean age of onset was 12.71 ± 4.09 years, and the mean duration of epilepsy was 2.34 ± 1.95 years. All 27 patients were treated with microsurgery for resection of the CMs, and the hemosiderin rim, and the secondary epileptogenic zone if necessary. The mean follow-up period was 6...
April 20, 2018: Neuropediatrics
https://www.readbyqxmd.com/read/29605477/susceptibility-weighted-magnetic-resonance-imaging-of-cerebrovascular-sequelae-after-radiotherapy-for-pediatric-brain-tumors
#4
Marie A Neu, Yasemin Tanyildizi, Arthur Wingerter, Nicole Henninger, Khalifa El Malki, Francesca Alt, Barbara Doerr, Heinz Schmidberger, Marcus Stockinger, Wolfgang Wagner, Stefanie Keweloh, Marc A Brockmann, Alexandra Russo, Joerg Faber
BACKGROUND AND PURPOSE: Due to sensitive neuroimaging techniques, cerebrovascular complications such as cerebral microbleeds (CMB) and cerebral cavernous malformations (CCM) are increasingly recognized as considerable late effects after treatment for pediatric brain tumor. The aim of this study was to analyze CMB in a cohort of patients after cranial irradiation therapy for medulloblastoma or other pediatric brain tumors using susceptibility-weighted magnetic resonance imaging (SWI). MATERIALS AND METHODS: Forty former pediatric brain tumor patients were enrolled in this prospective cross-sectional study and examined by cranial MRI including SWI sequences...
March 28, 2018: Radiotherapy and Oncology: Journal of the European Society for Therapeutic Radiology and Oncology
https://www.readbyqxmd.com/read/29593473/cerebral-cavernous-malformations-an-update-on-prevalence-molecular-genetic-analyses-and-genetic-counselling
#5
REVIEW
Stefanie Spiegler, Matthias Rath, Christin Paperlein, Ute Felbor
Based on the latest gnomAD dataset, the prevalence of symptomatic hereditary cerebral cavernous malformations (CCMs) prone to cause epileptic seizures and stroke-like symptoms was re-evaluated in this review and calculated to be 1:5,400-1:6,200. Furthermore, state-of-the-art molecular genetic analyses of the known CCM loci are described which reach an almost 100% mutation detection rate for familial CCMs if whole genome sequencing is performed for seemingly mutation-negative families. An update on the spectrum of CCM1 , CCM2 , and CCM3 mutations demonstrates that deep-intronic mutations and submicroscopic copy-number neutral genomic rearrangements are rare...
February 2018: Molecular Syndromology
https://www.readbyqxmd.com/read/29534399/-microsurgical-treatment-of-temporal-cavernous-malformation-presenting-with-epilepsy
#6
F Wang, D N Feng, Y Liu, Z Liu, T Sun
Objective: To evaluate the efficacy and safety of microsurgical in the treatment of temporal lobe cerebral cavernous malformation (CCM) with epilepsy. Methods: Temporal lobe CCM patients with epilepsy admitted to our department were collected from January 2010 to September 2016. Locations of the CCM were divided into (1) lateral-lateral to the collateral sulcus; (2) mesial-mesial to the collateral sulcus. In the lateral group, patients were underwent intraoperative electrocorticography (ECoG)-guided resection of lesion and hemosiderin rim...
March 6, 2018: Zhonghua Yi Xue za Zhi [Chinese medical journal]
https://www.readbyqxmd.com/read/29530707/transient-focal-mri-abnormalities-after-status-epilepticus-showed-11c-methionine-uptake-with-pet-in-a-patient-with-cerebral-cavernous-malformation
#7
Taichi Ishiguro, Masayuki Nitta, Takashi Komori, Takashi Maruyama, Yoshihiro Muragaki, Takakazu Kawamata
BACKGROUND: Transient focal MRI abnormalities after status epilepticus (SE) are rarely seen in patients with benign brain tumors, and the underlying mechanism is still unknown. We report a rare case of cerebral cavernous malformation with transient focal MRI abnormalities around the tumor and accumulation of 11C-methionine on PET after SE. These findings mimicked those of a glioma because the MRI and methionine PET findings were similar. We also speculate about the cause of this phenomenon in relation to pathological findings of this case...
March 9, 2018: World Neurosurgery
https://www.readbyqxmd.com/read/29511711/data-in-support-of-sustained-upregulation-of-adaptive-redox-homeostasis-mechanisms-caused-by-krit1-loss-of-function
#8
Cinzia Antognelli, Eliana Trapani, Simona Delle Monache, Andrea Perrelli, Claudia Fornelli, Francesca Retta, Paola Cassoni, Vincenzo Nicola Talesa, Saverio Francesco Retta
This article contains additional data related to the original research article entitled "KRIT1 loss-of-function induces a chronic Nrf2-mediated adaptive homeostasis that sensitizes cells to oxidative stress: implication for Cerebral Cavernous Malformation disease" (Antognelli et al., 2017) [1]. Data were obtained by si-RNA-mediated gene silencing, qRT-PCR, immunoblotting, and immunohistochemistry studies, and enzymatic activity and apoptosis assays. Overall, they support, complement and extend original findings demonstrating that KRIT1 loss-of-function induces a redox-sensitive and JNK-dependent sustained upregulation of the master Nrf2 antioxidant defense pathway and its downstream target Glyoxalase 1 (Glo1), and a drop in intracellular levels of AP-modified Hsp70 and Hsp27 proteins, leading to a chronic adaptive redox homeostasis that sensitizes cells to oxidative DNA damage and apoptosis...
February 2018: Data in Brief
https://www.readbyqxmd.com/read/29499589/letter-to-the-editor-regarding-long-term-outcomes-of-surgical-treatment-in-181-patients-with-supratentorial-cerebral-cavernous-malformation-associated-epilepsy
#9
LETTER
Saeid Safiri, Hamid Mansourpour, Erfan Ayubi
No abstract text is available yet for this article.
March 2018: World Neurosurgery
https://www.readbyqxmd.com/read/29462451/transsylvian-transuncal-approach-for-an-anterior-midbrain-cavernous-malformation-resection-a-case-report
#10
Julien Delaunois, Géraldo Vaz, Christian Raftopoulos
BACKGROUND AND IMPORTANCE: Cavernous malformations (CMs) are vascular abnormalities with a hemorrhage risk of 0.2% to 5% per year, according to their location. Brainstem CMs seem to have a greater hemorrhagic risk and represent a neurosurgical challenge. We report here the first transsylvian transuncal (TS-TU) approach for an anteromedial mesencephalic CM resection. CLINICAL PRESENTATION: A 29-yr-old female suddenly presented a left hemiparesis and central facial paresis with a diplopia in the upward gaze...
March 1, 2018: Operative Neurosurgery (Hagerstown, Md.)
https://www.readbyqxmd.com/read/29454117/the-differentially-expressed-genes-of-human-sporadic-cerebral-cavernous-malformations
#11
Xiangjiang Lin, Guolu Meng, Xing Liu, Tengfei Yu, Chuanfeng Bai, Xiaobin Fei, Shengze Deng, Jizong Zhao, Shulin Ren, Junting Zhang, Zhen Wu, Shuo Wang, Jianguo Zhang, Liwei Zhang
OBJECTIVES: To understand the development of sporadic cerebral cavernous malformations (SCCM) comprehensively, we analyzed gene expression profiles in SCCMs by gene microarray. METHODS: The total number of the specimens collected in our study was 14, 7 of which were SCCMs, and the others were controls that were obtained from normal brain vessels. The total RNA was extracted and hybridized with oligonucleotide array containing 21522 genes. The analysis of Gene Ontology (GO) items and molecular pathways was performed based on the GO and Kyoto Encyclopedia of Genes and Genomes databases...
May 2018: World Neurosurgery
https://www.readbyqxmd.com/read/29364115/heg1-and-ccm1-2-proteins-control-endocardial-mechanosensitivity-during-zebrafish-valvulogenesis
#12
Stefan Donat, Marta Lourenço, Alessio Paolini, Cécile Otten, Marc Renz, Salim Abdelilah-Seyfried
Endothelial cells respond to different levels of fluid shear stress through adaptations of their mechanosensitivity. Currently, we lack a good understanding of how this contributes to sculpting of the cardiovascular system. Cerebral cavernous malformation (CCM) is an inherited vascular disease that occurs when a second somatic mutation causes a loss of CCM1/KRIT1, CCM2, or CCM3 proteins. Here, we demonstrate that zebrafish Krit1 regulates the formation of cardiac valves. Expression of heg1 , which encodes a binding partner of Krit1, is positively regulated by blood-flow...
February 1, 2018: ELife
https://www.readbyqxmd.com/read/29331747/dural-based-cavernous-malformation-at-the-cerebral-convexity-report-of-two-pediatric-patients
#13
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 in that only 2 pediatric cases have ever been reported. In this report, we present 2 extremely rare cases of dural-based CMs at the cerebral convexity in pediatric patients. The clinical course, radiologic and pathologic features, treatment, and follow-up are described...
April 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
#14
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...
2017: 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
#15
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 8, 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
#16
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
#17
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...
January 2018: 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
#18
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 continue to be debated. This study aimed to establish an algorithm to evaluate the efficacy of surgical intervention strategies, to maximize positive surgical outcomes and minimize postsurgical neurologic deficits. METHODS: 47 patients having undergone operation for CCM-associated temporal lobe epilepsy were retrospectively reviewed...
February 2018: 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
#19
Cinzia Antognelli, Eliana Trapani, Simona Delle Monache, Andrea Perrelli, 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...
February 1, 2018: 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
#20
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...
January 2018: Clinical Neurology and Neurosurgery
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