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Cerebral cavernous malformation

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]
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
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
Saeid Safiri, Hamid Mansourpour, Erfan Ayubi
No abstract text is available yet for this article.
March 2018: World Neurosurgery
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.)
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 the 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 (KEGG) databases...
February 14, 2018: World Neurosurgery
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...
January 24, 2018: ELife
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
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
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
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
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
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
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
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
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...
January 2018: Clinical Neuropathology
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...
December 2017: Seizure: the Journal of the British Epilepsy Association
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
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
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
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