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Cerebral cavernous malformation

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https://www.readbyqxmd.com/read/28534135/automated-algorithm-for-counting-microbleeds-in-patients-with-familial-cerebral-cavernous-malformations
#1
Xiaowei Zou, Blaine L Hart, Marc Mabray, Mary R Bartlett, Wei Bian, Jeffrey Nelson, Leslie A Morrison, Charles E McCulloch, Christopher P Hess, Janine M Lupo, Helen Kim
PURPOSE: Familial cerebral cavernous malformation (CCM) patients present with multiple lesions that can grow both in number and size over time and are reliably detected on susceptibility-weighted imaging (SWI). Manual counting of lesions is arduous and subject to high variability. We aimed to develop an automated algorithm for counting CCM microbleeds (lesions <5 mm in diameter) on SWI images. METHODS: Fifty-seven familial CCM type-1 patients were included in this institutional review board-approved study...
May 22, 2017: Neuroradiology
https://www.readbyqxmd.com/read/28503485/surgical-approaches-for-symptomatic-cerebral-cavernous-malformations-of-the-thalamus-and-brainstem
#2
Dale Ding, Robert M Starke, R Webster Crowley, Kenneth C Liu
OBJECTIVE: Surgical resection of thalamic and brainstem cerebral cavernous malformations (CCMs) is associated with significant operative morbidity, but it may be outweighed, in some cases, by the neurological damage from recurrent hemorrhage in these eloquent areas. The goals of this retrospective cohort study are to describe the technical nuances of surgical approaches and determine the postoperative outcomes for CCMs of the thalamus and brainstem. MATERIALS AND METHODS: We reviewed an institutional database of patients harboring thalamic or brainstem CCMs, who underwent surgical resection from 2010 to 2014...
March 2017: Journal of Cerebrovascular and Endovascular Neurosurgery
https://www.readbyqxmd.com/read/28503077/an-unusual-association-of-headache-epilepsy-and-late-onset-kleist-s-pseudodepression-syndrome-in-frontal-lobe-cavernoma-of-the-cerebral-left-hemisphere
#3
Domenico Chirchiglia, Attilio Della Torre, Domenico Murrone, Pasquale Chirchiglia, Rosa Marotta
Cerebral cavernous angioma or cavernoma is a benign vascular malformation, usually asymptomatic. It is infrequent and often its discovery is incidental, a so-called incidentaloma. However, these lesions can be symptomatic, causing headaches, epilepsy, cerebral hemorrhage and other neurological signs depending on the brain area involved. Frontal localization is responsible for psychiatric disorders, particularly the prefrontal region, leading to prefrontal syndrome, a condition common in all frontal lobe tumors...
2017: International Medical Case Reports Journal
https://www.readbyqxmd.com/read/28500274/combined-hmg-coa-reductase-and-prenylation-inhibition-in-treatment-of-ccm
#4
Sayoko Nishimura, Ketu Mishra-Gorur, JinSeok Park, Yulia V Surovtseva, Said M Sebti, Andre Levchenko, Angeliki Louvi, Murat Gunel
Cerebral cavernous malformations (CCMs) are common vascular anomalies that develop in the central nervous system and, more rarely, the retina. The lesions can cause headache, seizures, focal neurological deficits, and hemorrhagic stroke. Symptomatic lesions are treated according to their presentation; however, targeted pharmacological therapies that improve the outcome of CCM disease are currently lacking. We performed a high-throughput screen to identify Food and Drug Administration-approved drugs or other bioactive compounds that could effectively suppress hyperproliferation of mouse brain primary astrocytes deficient for CCM3...
May 12, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28499904/completely-thrombosed-distal-middle-cerebral-artery-aneurysm-mimicking-a-cavernous-angioma-case-report-and-review-of-the-literature
#5
Sokol Trungu, Placido Bruzzaniti, Stefano Forcato, Marco Cimatti, Antonino Raco
BACKGROUND: Distal middle cerebral artery (MCA) aneurysms originate from branches of MCA distal to its main bifurcation or the peripheral branches. Distal MCA aneurysms are uncommon compared to saccular aneurysms developing along the proximal trunks of MCA. However, thrombotic aneurysms, characterized by organized intraluminal thrombus and solid mass, are frequently in the large and giant size range, while complete thrombosis of non-giant MCA aneurysms is very rare. CASE PRESENTATION: We present the clinical case of a 53 years-old woman with a completely thrombosed medium distal MCA aneurysm which mimics a cavernous angioma...
May 9, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28492932/population-based-prevalence-of-cerebral-cavernous-malformations-in-older-adults-mayo-clinic-study-of-aging
#6
Kelly D Flemming, Jonathan Graff-Radford, Jeremiah Aakre, Kejal Kantarci, Giuseppe Lanzino, Robert D Brown, Michelle M Mielke, Rosebud O Roberts, Walter Kremers, David S Knopman, Ronald C Petersen, Clifford R Jack
Importance: The prevalence of cerebral cavernous malformation (CCM) is unknown. Case ascertainment in most previous studies was based on autopsy data or clinical convenience samples, often without detailed clinical or radiologic information. Objective: To determine the prevalence of CCM in a population-based sample of older adults. Design, Setting, and Participants: This prospective imaging study included 4721 participants aged 50 to 89 years who were enrolled between January 1, 2004, and December 15, 2015, in the Mayo Clinic Study of Aging, a longitudinal, population-based study of residents of Olmsted County, Minnesota...
May 8, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/28489816/endothelial-tlr4-and-the-microbiome-drive-cerebral-cavernous-malformations
#7
Alan T Tang, Jaesung P Choi, Jonathan J Kotzin, Yiqing Yang, Courtney C Hong, Nicholas Hobson, Romuald Girard, Hussein A Zeineddine, Rhonda Lightle, Thomas Moore, Ying Cao, Robert Shenkar, Mei Chen, Patricia Mericko, Jisheng Yang, Li Li, Ceylan Tanes, Dmytro Kobuley, Urmo Võsa, Kevin J Whitehead, Dean Y Li, Lude Franke, Blaine Hart, Markus Schwaninger, Jorge Henao-Mejia, Leslie Morrison, Helen Kim, Issam A Awad, Xiangjian Zheng, Mark L Kahn
Cerebral cavernous malformations (CCMs) are a cause of stroke and seizure for which no effective medical therapies yet exist. CCMs arise from the loss of an adaptor complex that negatively regulates MEKK3-KLF2/4 signalling in brain endothelial cells, but upstream activators of this disease pathway have yet to be identified. Here we identify endothelial Toll-like receptor 4 (TLR4) and the gut microbiome as critical stimulants of CCM formation. Activation of TLR4 by Gram-negative bacteria or lipopolysaccharide accelerates CCM formation, and genetic or pharmacologic blockade of TLR4 signalling prevents CCM formation in mice...
May 10, 2017: Nature
https://www.readbyqxmd.com/read/28488085/novel-loss-of-function-mutation-in-krit1-ccm1-is-associated-with-distinctly-progressive-cerebral-and-spinal-cavernous-malformations-after-radiochemotherapy-for-intracranial-malignant-germ-cell-tumor
#8
Alexandra Russo, Marie Astrid Neu, Johanna Theruvath, Bettina Kron, Arthur Wingerter, Silla Hey-Koch, Yasemin Tanyildizi, Joerg Faber
PURPOSE: Cerebrospinal cavernous malformations (CCMs) are vascular lesions characterized by dilated and leaky capillary caverns. CCMs can cause seizures, focal neurological deficits or acute intracranial hemorrhage; however, most patients are asymptomatic. CCMs occur either sporadically or as a familial autosomal-dominant disorder. We present a clinical and molecular study of a patient with distinctive cerebral and spinal cavernous malformations following radiochemotherapy for a malignant brain tumor...
May 9, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28460204/agenesis-of-the-internal-carotid-artery-a-family-pathology
#9
F M Perla, G Carbotta, D Di Nardo, M D'Avanzo, M C Colaiacomo, C Di Biasi, L Falvo, S Carbotta, A Maturo, F Tartaglia, L Tromba
The internal carotid artery agenesis is a rare malformation disorder. We report the case of a 12-year-old boy suffering migraine, who had presented an episode featuring amaurosis fugax, spontaneously regressed. CT angiography images show hypoplasia of the left common carotid artery with loss of opacification of the left internal carotid artery consistent to agenesis. Moreover CT scans through the skull base demonstrate absence of left petrous carotid canal and an hypertrophic left middle cerebral artery originating from an aberrant artery arising from the right cavernous carotid...
January 2017: Il Giornale di Chirurgia
https://www.readbyqxmd.com/read/28445174/obstetric-anesthesia-for-a-pregnant-woman-with-brainstem-cavernous-malformations-a-case-report
#10
Misuzu Hayashi, Manabu Kakinohana
There are no well-defined guidelines for obstetric and anesthetic management of pregnant patients with cerebral cavernous malformations (CMs). We need to pay careful attention to the attendant risks of both general and neuraxial anesthesia in this population. Here, we describe the anesthetic management of a pregnant woman with brainstem CMs who underwent cesarean delivery. We selected a general anesthetic technique because of concerns of undesirable effects of neuraxial anesthesia in the presence of cerebral CMs...
April 25, 2017: A & A Case Reports
https://www.readbyqxmd.com/read/28432261/ccm2-and-pak4-act-downstream-of-atrial-natriuretic-peptide-signaling-to-promote-cell-spreading
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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