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Cerebral cavernous malformation

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https://www.readbyqxmd.com/read/28432261/ccm2-and-pak4-act-downstream-of-atrial-natriuretic-peptide-signaling-to-promote-cell-spreading
#1
Koichi Miura, Takashi Nojiri, Yoshiharu Akitake, Koji Ando, Shigetomo Fukuhara, Masahiro Zenitani, Toru Kimura, Jun Hino, Mikiya Miyazato, Hiroshi Hosoda, Kenji Kangawa
Atrial natriuretic peptide (ANP) is a cardiac hormone released by the atrium in response to stretching forces. Via its receptor, guanylyl cyclase-A (GC-A), ANP maintains cardiovascular homeostasis by exerting diuretic, natriuretic, and hypotensive effects mediated in part by endothelial cells. Both in vivo and in vitro , ANP enhances endothelial barrier function by reducing RhoA activity and reorganizing the actin cytoskeleton. We established mouse endothelial cells that stably express GC-A, and used them to analyze the molecular mechanisms responsible for actin reorganization...
April 21, 2017: Biochemical Journal
https://www.readbyqxmd.com/read/28391022/reliable-the-value-of-early-postoperative-magnetic-resonance-imaging-after-ccm-surgery
#2
Bixia Chen, Sophia Göricke, Karsten Wrede, Ramazan Jabbarli, Max Jaegersberg, Ulrich Sure, Philipp Dammann
BACKGROUND: Cerebral cavernous malformations (CCM) can cause intracerebral hemorrhage. The lesions themselves are frequently associated with perifocal hemosiderin deposits due to repetitive microhemorrhages. Main indications for a surgical treatment are recurrent symptomatic hemorrhages or cavernoma-related epilepsy (CRE). After surgical resection, follow-up MR-imaging is usually performed to confirm a) the complete resection of the CCM and, especially in cases of CRE, b) the complete resection of the hemosiderin deposits...
April 5, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28388986/cerebral-cavernous-malformation-when-the-key-to-diagnosis-is-on-the-skin
#3
M M Escudero-Góngora, A Bauzá, A Giacaman, A Martín-Santiago
No abstract text is available yet for this article.
April 4, 2017: Actas Dermo-sifiliográficas
https://www.readbyqxmd.com/read/28387823/synopsis-of-guidelines-for-the-clinical-management-of-cerebral-cavernous-malformations-consensus-recommendations-based-on-systematic-literature-review-by-the-angioma-alliance-scientific-advisory-board-clinical-experts-panel
#4
Amy Akers, Rustam Al-Shahi Salman, Issam A Awad, Kristen Dahlem, Kelly Flemming, Blaine Hart, Helen Kim, Ignacio Jusue-Torres, Douglas Kondziolka, Cornelia Lee, Leslie Morrison, Daniele Rigamonti, Tania Rebeiz, Elisabeth Tournier-Lasserve, Darrel Waggoner, Kevin Whitehead
BACKGROUND: Despite many publications about cerebral cavernous malformations (CCMs), controversy remains regarding diagnostic and management strategies. OBJECTIVE: To develop guidelines for CCM management. METHODS: The Angioma Alliance ( www.angioma.org ), the patient support group in the United States advocating on behalf of patients and research in CCM, convened a multidisciplinary writing group comprising expert CCM clinicians to help summarize the existing literature related to the clinical care of CCM, focusing on 5 topics: (1) epidemiology and natural history, (2) genetic testing and counseling, (3) diagnostic criteria and radiology standards, (4) neurosurgical considerations, and (5) neurological considerations...
April 7, 2017: Neurosurgery
https://www.readbyqxmd.com/read/28387648/dysmorphic-features-frontal-cerebral-cavernoma-and-hyperglycemia-in-a-girl-with-a-de-novo-deletion-of-7-23-mb-in-region-7p13-p12-1
#5
Gilberto Pérez López, Beatriz Villafuerte Quispe, María José Cabrejas Núñez, Luis Castaño, Raquel Barrio
We describe the case of a 7 year old girl referred to our Diabetes Unit for hyperglycemia associated to facial dysmorphic features, intellectual disability and cerebral cavernomas, who was initially diagnosed with type 1 diabetes mellitus (positive anti-IA2 antibody and HLA DR3/DR4/DQ2). In follow up, due to the evolution of the diabetes (very good metabolic control with low insulin dose and negative IA-2 antibodies - samples analyzed in two different laboratories-), first clinical suspicion was GCK-related Maturity-Onset Diabetes of the Young (MODY 2) by persistent mild hyperglycemia in the fasting state, which was substantiated in Multiplex Ligation-dependent Probe Amplification (MLPA)...
April 7, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28377258/cavernoma-new-insights-from-an-unusual-case
#6
G Sokratous, I Ughratdar, R Selway, Safa Al-Sarraj, K Ashkan
Rapid growth in cerebral cavernous malformation is rare. We present the case of a 71 year old patient with known multiple cavernomas over many years in whom one lesion showed rapid expansion in size. Histological examination revealed co-existence of glioblastoma within the cavernoma. We review the literature for similar cases and discuss the potential mechanisms underlying this phenomenon. Review of the literature revealed four cases with known cerebral cavernous malformations that have later developed, at the same site, a high grade glioma...
April 1, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28371279/ephb4-forward-signalling-mediates-angiogenesis-caused-by-ccm3-pdcd10-ablation
#7
Chao You, Kai Zhao, Philipp Dammann, Kathy Keyvani, Ilonka Kreitschmann-Andermahr, Ulrich Sure, Yuan Zhu
CCM3, also named as PDCD10, is a ubiquitous protein expressed in nearly all tissues and in various types of cells. It is essential for vascular development and post-natal vessel maturation. Loss-of-function mutation of CCM3 predisposes for the familial form of cerebral cavernous malformation (CCM). We have previously shown that knock-down of CCM3 stimulated endothelial angiogenesis via impairing DLL4-Notch signalling; moreover, loss of endothelial CCM3 stimulated tumour angiogenesis and promoted tumour growth...
April 1, 2017: Journal of Cellular and Molecular Medicine
https://www.readbyqxmd.com/read/28368503/contribution-of-endothelial-to-mesenchymal-transition-to-the-pathogenesis-of-human-cerebral-and-orbital-cavernous-malformations
#8
Shigeki Takada, Masato Hojo, Kenji Tanigaki, Susumu Miyamoto
BACKGROUND: The analysis of gene-targeted mouse mutants has demonstrated that endothelial-to-mesenchymal transition (EndMT) is crucial to the onset and progression of cerebral cavernous malformations (CMs). It has also been shown that Notch and ephrin/Eph signaling are involved in EndMT. However, their roles in the pathogenesis of human intracranial CMs remain unclear. OBJECTIVE: To elucidate the contribution of EndMT, the Notch pathway, and ephrin-B2/EphB4 signaling to the pathogenesis of human intracranial CMs...
March 28, 2017: Neurosurgery
https://www.readbyqxmd.com/read/28345540/epidemiological-features-of-nontraumatic-spontaneous-subarachnoid-hemorrhage-in-china-a-nationwide-hospital-based-multicenter-study
#9
Jian-Ping Song, Wei Ni, Yu-Xiang Gu, Wei Zhu, Liang Chen, Bin Xu, Bin Leng, Yan-Long Tian, Ying Mao
BACKGROUND: Nontraumatic spontaneous subarachnoid hemorrhage (SAH) is associated with a high mortality. This study was conducted to investigate the epidemiological features of nontraumatic spontaneous SAH in China. METHODS: From January 2006 to December 2008, the clinical data of patients with nontraumatic SAH from 32 major neurosurgical centers of China were evaluated. Emergent digital subtraction angiography (DSA) was performed for the diagnosis of SAH sources in the acute stage of SAH (≤3 days)...
April 5, 2017: Chinese Medical Journal
https://www.readbyqxmd.com/read/28327920/of-bubbles-and-layers-which-cerebral-cavernous-malformations-are-most-difficult-to-dissect-from-surrounding-eloquent-brain-tissue
#10
Philipp Dammann, Karsten Wrede, Ramazan Jabbarli, Oliver Müller, Christoph Mönninghoff, Michael Forsting, Ulrich Sure
BACKGROUND: Cerebral cavernous malformations (CCM) may lead to repetitive intracerebral hemorrhage. In selected cases, a surgical resection is indicated. OBJECTIVE: To identify magnetic resonance imaging (MRI) features of CCM that correlate with the difficulty of dissection and postoperative outcome. METHODS: This study prospectively analyzed pre- and postoperative MRI features, intraoperative findings (surgical questionnaire), and postoperative outcome of 41 patients with eloquent CCM...
March 10, 2017: Neurosurgery
https://www.readbyqxmd.com/read/28318403/familial-cerebral-cavernous-malformations-are-associated-with-adrenal-calcifications-on-ct-scans-an-imaging-biomarker-for-a-hereditary-cerebrovascular-condition
#11
Corinne D Strickland, Steven C Eberhardt, Mary R Bartlett, Jeffrey Nelson, Helen Kim, Leslie A Morrison, Blaine L Hart
Purpose To determine if adrenal calcifications seen at computed tomography (CT) are associated with familial cerebral cavernous malformations (fCCMs) in carriers of the CCM1 Common Hispanic Mutation. Materials and Methods This study was approved by the institutional review board. The authors retrospectively reviewed abdominal CT scans in 38 patients with fCCM, 38 unaffected age- and sex-matched control subjects, and 13 patients with sporadic, nonfamilial cerebral cavernous malformation (CCM). The size, number, and laterality of calcifications and the morphologic characteristics of the adrenal gland were recorded...
March 20, 2017: Radiology
https://www.readbyqxmd.com/read/28285997/ccm-3-promotes-c-%C3%A2-elegans-germline-development-by-regulating-vesicle-trafficking-cytokinesis-and-polarity
#12
Swati Pal, Benjamin Lant, Bin Yu, Ruilin Tian, Jiefei Tong, Jonathan R Krieger, Michael F Moran, Anne-Claude Gingras, W Brent Derry
Cerebral cavernous malformations (CCMs) are vascular defects of the CNS that arise from loss of integrity of the endothelial cells lining blood capillaries, causing leakage of blood into the brain [1]. This results in headaches, seizures, and/or hemorrhagic stroke, depending on the location of the lesion. CCM affects 0.5% of the population and follows an autosomal dominant inheritance pattern caused by mutations in one of the three genes: CCM1 (gene name KRIT1), CCM2 (also known as malcavernin or OSM), and CCM3 (gene name PDCD10) [2, 3], with the earliest onset and most severe prognosis occurring in CCM3 patients [4]...
March 20, 2017: Current Biology: CB
https://www.readbyqxmd.com/read/28266042/rare-case-of-vascular-malformations-in-both-skin-and-brain-case-report-and-published-work-review
#13
Masahiro Oka, Masanobu Sakaguchi, Takeshi Fukumoto, Shin-Ichiro Seki, Chikako Nishigori
Solitary venous malformation (VM) of the skin, previously known as cavernous hemangioma, is frequently observed in the dermatological field, but multiple acquired VM are rare. We present a case of multiple VM of the skin associated with multiple cerebral cavernous malformations (CCM) in a 70-year-old Japanese woman. In addition, we summarize seven reported similar cases, including the present case. That some reports have described concomitant VM of the skin and CCM, together with the present case, suggests a tight relationship or a common pathogenetic pathway between these two diseases...
March 7, 2017: Journal of Dermatology
https://www.readbyqxmd.com/read/28255959/a-novel-ccm1-krit1-heterozygous-nonsense-mutation-c-1864c-t-associated-with-familial-cerebral-cavernous-malformation-a-genetic-insight-from-an-8-year-continuous-observational-study
#14
Chenlong Yang, Van Halm-Lutterodt Nicholas, Jizong Zhao, Bingquan Wu, Haohao Zhong, Yan Li, Yulun Xu
Cerebral cavernous malformation (CCM) is a congenital vascular abnormality that predominantly affects the central nervous system, but that sometimes encroaches other vital tissues, including the retina, skin, and even liver. The familial form of CCM (FCCM) is considered to be an autosomal dominant disease with incomplete penetrance and variable expression, which is often attributed to mutations in three genes: CCM1, CCM2, and CCM3. We screened a Chinese family diagnosed with FCCM by using Sanger sequencing...
March 2, 2017: Journal of Molecular Neuroscience: MN
https://www.readbyqxmd.com/read/28236596/ascending-spinal-cord-infarction-secondary-to-recurrent-spinal-cord-cavernous-malformation-hemorrhage
#15
Geoffrey D Huntley, Michael W Ruff, Stephen B Hicks, Micah D Yost, Jimmy R Fulgham
We report a case of a 58-year-old Hispanic man who developed ascending paraparesis over several weeks secondary to recurrent hemorrhages and resulting in spinal cord ischemia from a low thoracic spinal cord cavernous malformation. The patient's deterioration was attributed to recurrent hemorrhage of a thoracic intramedullary cavernous malformation at T11 resulting in vascular congestion and spinal cord ischemia. The patient was found to have a heterozygous mutation on exon 13 of gene KRIT1, which was consistent with autosomal dominant familial cerebral cavernous malformations...
February 21, 2017: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
https://www.readbyqxmd.com/read/28235955/validation-of-cerebral-arteriovenous-malformation-hemodynamics-assessed-by-dsa-using-quantitative-magnetic-resonance-angiography-preliminary-study
#16
Sophia F Shakur, Denise Brunozzi, Ahmed E Hussein, Andreas Linninger, Chih-Yang Hsu, Fady T Charbel, Ali Alaraj
BACKGROUND: The hemodynamic evaluation of cerebral arteriovenous malformations (AVMs) using DSA has not been validated against true flow measurements. OBJECTIVE: To validate AVM hemodynamics assessed by DSA using quantitative magnetic resonance angiography (QMRA). MATERIALS AND METHODS: Patients seen at our institution between 2007 and 2016 with a supratentorial AVM and DSA and QMRA obtained before any treatment were retrospectively reviewed...
February 24, 2017: Journal of Neurointerventional Surgery
https://www.readbyqxmd.com/read/28229997/pregnancy-combined-with-epilepsy-and-cerebral-cavernous-malformation
#17
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.
March 5, 2017: Chinese Medical Journal
https://www.readbyqxmd.com/read/28212190/endothelial-cell-disease-emerging-knowledge-from-cerebral-cavernous-malformations
#18
Maria Grazia Lampugnani, Matteo Malinverno, Elisabetta Dejana, Noemi Rudini
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...
May 2017: Current Opinion in Hematology
https://www.readbyqxmd.com/read/28181149/genome-wide-sequencing-reveals-micrornas-downregulated-in-cerebral-cavernous-malformations
#19
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
#20
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
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