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cavernous malformations

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https://www.readbyqxmd.com/read/28229997/pregnancy-combined-with-epilepsy-and-cerebral-cavernous-malformation
#1
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.
2017: Chinese Medical Journal
https://www.readbyqxmd.com/read/28217393/rare-association-of-secondary-superficial-siderosis-caused-by-a-fourth-ventricle-hemorrhagic-ependymoma-mimicking-a-cavernoma-case-report-and-literature-review
#2
Eduardo E Espinosa Rodríguez, Rodrigo Carrasco Moro, Juan S Martínez San Millán, Héctor G Pian Arias
BACKGROUND: The association of a hemorrhagic tumor with secondary superficial siderosis (SS) is a relatively rare although well described phenomenon. CASE DESCRIPTION: We present the case report of a 35-year-old male with a history of drowsiness, hypoacusia, drop attacks, and multidirectional nystagmus during the last 2 months, who presented with acute obstructive hydrocephalus caused by a fourth ventricle mass displaying radiological signs of repeated intra and extratumoral hemorrhage with SS...
2017: Surgical Neurology International
https://www.readbyqxmd.com/read/28215457/synchronous-ipsilateral-cavernous-malformations-of-the-trochlear-nerve
#3
Christopher S Graffeo, William R Copeland, Perkins Mukunyadzi, Ali F Krisht
BACKGROUND: Cranial nerve cavernous malformations (CM) are rare benign congenital vascular anomalies, with approximately 44 preceding cases in the literature. We report the fifth case of trochlear CM, as well as the first instance of two discrete CM occurring simultaneously along the same cranial nerve. METHODS: Case report. RESULTS: A fifty-seven year-old man presented with several years of diplopia; physical examination identified a complete left trochlear nerve paralysis...
February 16, 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/28212190/endothelial-cell-disease-emerging-knowledge-from-cerebral-cavernous-malformations
#4
Maria Grazia Lampugnani, Matteo Malinverno, Elisabetta Dejana
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...
February 16, 2017: Current Opinion in Hematology
https://www.readbyqxmd.com/read/28203571/evolutionary-history-of-multiple-dural-fistula
#5
Braulio Martinez-Burbano, Edgar Patricio Correa Diaz, Carolina Jácome Sánchez
Intracranial dural arteriovenous fistulas (DAVFs) are abnormal communications between arteries and veins or dural venous sinuses, which sit between the sheets of the dura. They represent 10% to 15% of intracranial vascular malformations. Clinical manifestations and prognosis depend on the pattern of venous drainage and location. The clinical presentation of DAVF may be mistaken for vascular or nonvascular brain pathologies. For that reason, within the differential diagnosis come a wide range of conditions, such as secondary headaches, encephalopathies, dementias including those with rapid progression, neurodegenerative diseases, inflammatory processes, or tumors typically at the orbital level or in the cavernous sinus...
October 2016: Journal of Investigative Medicine High Impact Case Reports
https://www.readbyqxmd.com/read/28184444/impact-of-timing-of-intervention-among-397-consecutively-treated-brainstem-cavernous-malformations
#6
Hasan A Zaidi, Michael A Mooney, Michael R Levitt, Alexander B Dru, Adib A Abla, Robert F Spetzler
No abstract text is available yet for this article.
February 10, 2017: Neurosurgery
https://www.readbyqxmd.com/read/28181149/genome-wide-sequencing-reveals-micrornas-downregulated-in-cerebral-cavernous-malformations
#7
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
#8
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
https://www.readbyqxmd.com/read/28157750/management-of-unruptured-intracranial-aneurysms-and-cerebrovascular-malformations
#9
Kelly D Flemming, Giuseppe Lanzino
PURPOSE OF REVIEW: Unruptured intracranial aneurysms and vascular malformations are detected more frequently because of the increased use and availability of brain imaging. Management of these entities requires knowledge of which patients are at high risk for hemorrhage and what treatment options are available. This article summarizes the epidemiology, natural history, and management strategies for unruptured intracranial aneurysms, arteriovenous malformations, cavernous malformations, developmental venous anomalies, and capillary telangiectasias...
February 2017: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/28141624/dilated-superior-ophthalmic-vein-clinical-and-radiographic-features-of-113-cases
#10
Christopher R Adam, Carol L Shields, Justin Gutman, H Joon Kim, Brent Hayek, John W Shore, Alexandra Braunstein, Flora Levin, Bryan J Winn, Ivan Vrcek, Ronald Mancini, Craig Linden, Christina Choe, Mithra Gonzalez, David Altschul, Santiago Ortega-Gutierrez, Srinivasan Paramasivam, Johanna T Fifi, Alejandro Berenstein, Vikram Durairaj, Roman Shinder
PURPOSE: Dilated superior ophthalmic vein (SOV) is an uncommon radiographic finding. The authors review the presentation, etiology, radiography, and visual implications of 113 patients with dilated SOV. METHODS: An observational case series and multicenter retrospective chart review were conducted. There were 113 patients with a dilated SOV. Outcome measures included patient demographics, clinical features, radiographic findings, diagnosis, and treatment, and treatment outcomes were assessed...
January 30, 2017: Ophthalmic Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/28131871/cavernous-venous-malformation-cavernous-hemangioma-of-the-orbit-current-concepts-and-a-review-of-the-literature
#11
REVIEW
Luigi Calandriello, Gabriela Grimaldi, Gianluigi Petrone, Mario Rigante, Sergio Petroni, Monica Riso, Gustavo Savino
The cavernous venous malformation of the orbit, previously called cavernous hemangioma, is the most common primary orbital lesion of adults. Cavernous venous malformation occurs more often in women and typically presents in the fourth and fifth decades of life. It is a benign vascular malformation characterized by a well-defined capsule and numerous large vascular channels. The most common sign of cavernous venous malformation is progressive axial proptosis from the preferential involvement of the intraconal orbital space...
January 26, 2017: Survey of Ophthalmology
https://www.readbyqxmd.com/read/28129631/treatment-of-brainstem-cavernous-malformations
#12
EDITORIAL
Aatman Shah, Henry Jung
No abstract text is available yet for this article.
January 16, 2017: Clinical Neurology and Neurosurgery
https://www.readbyqxmd.com/read/28116327/constitutional-de-novo-and-postzygotic-mutations-in-isolated-cases-of-cerebral-cavernous-malformations
#13
Matthias Rath, Stefanie Spiegler, Neetika Nath, Konrad Schwefel, Nataliya Di Donato, Johannes Gerber, G Christoph Korenke, Yorck Hellenbroich, Ute Hehr, Stephanie Gross, Ulrich Sure, Barbara Zoll, Eberhard Gilberg, Lars Kaderali, Ute Felbor
BACKGROUND: Cerebral cavernous malformations (CCM) are vascular lesions of the central nervous system that can be found in sporadic or autosomal dominantly inherited forms and manifest with headaches, seizures, and hemorrhagic stroke. The precise proportion of de novo mutations in the CCM1,CCM2, and CCM3 genes remains unknown. METHODS: We here present a series of six trios with de novo mutations that have been analyzed by amplicon deep sequencing to differentiate between constitutional and postzygotic mutations...
January 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28103603/real-time-ultrasound-guided-catheter-navigation-for-approaching-deep-seated-brain-lesions-role-of-intraoperative-neurosonography-with-and-without-fusion-with-magnetic-resonance-imaging
#14
Sunil Manjila, Aditya Karhade, Ji Hoon Phi, R Michael Scott, Edward R Smith
BACKGROUND/AIMS: Brain shift during the exposure of cranial lesions may reduce the accuracy of frameless stereotaxy. We describe a rapid, safe, and effective method to approach deep-seated brain lesions using real-time intraoperative ultrasound placement of a catheter to mark the dissection trajectory to the lesion. METHODS: With Institutional Review Board approval, we retrospectively reviewed the radiographic, pathologic, and intraoperative data of 11 pediatric patients who underwent excision of 12 lesions by means of this technique...
January 20, 2017: Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28098958/perilesional-hyperintensity-on-t1-weighted-images-in-intra-axial-brain-masses-other-than-cavernous-malformations
#15
S Ali Nabavizadeh, Dasha Pechersky, J Eric Schmitt, MacLean Nasrallah, Ronald Wolf, Laurie Loevner, Alexander C Mamourian
BACKGROUND AND PURPOSE: Hyperintensity on T1-weighted imaging in perilesional vasogenic edema has been reported as a useful sign for differentiating cavernous malformation from other hemorrhagic intra-axial masses. In this study, we investigated the frequency of perilesional hyperintensity on T1-weighted imaging in patients with intra-axial hemorrhagic and nonhemorrhagic brain masses. METHODS: The study was performed with the approval of the institutional review board...
January 18, 2017: Journal of Neuroimaging: Official Journal of the American Society of Neuroimaging
https://www.readbyqxmd.com/read/28087183/co-expression-of-tissue-factor-and-il-6-in-immature-endothelial-cells-of-cerebral-cavernous-malformations
#16
Shouhei Noshiro, Takeshi Mikami, Yuko Kataoka-Sasaki, Masanori Sasaki, Hirofumi Ohnishi, Shunya Ohtaki, Masahiko Wanibuchi, Nobuhiro Mikuni, Jeffery D Kocsis, Osamu Honmou
Cerebral cavernous malformations (CCMs) are congenital abnormal clusters of capillaries that are prone to leaking and thought to result from a disorder of endothelial cells. The underlying pathology of CCM is not fully understood. We analyzed the expression of tissue factor (TF) and interleukin-6 (IL-6) in CCMs to determine the association of TF and IL-6 with clinical and pathological findings. Thirteen cases of operative specimens of sporadic CCMs were included in this study. The expression of messenger RNA of TF and IL-6 was assayed and the association with clinical factors was investigated...
March 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/28068754/intraventricular-cavernous-malformation-review-of-the-literature-and-report-of-three-cases-with-neuroendoscopic-resection
#17
Masoud Shirvani, Alireza Hajimirzabeigi
Intraventricular cavernomas (IVCs) are extremely infrequent and only occur in 2.8 to 10% of patients with cerebral cavernomas. We describe three IVC cases and briefly review previously documented IVC cases in PubMed. Among 136 IVC cases, the mean age of the patients was 36.5 years; the male-to-female ratio was 0.8. The most frequent location was the lateral ventricle (52.6%), and most of the clinical symptoms (74%) were related to mass effects on adjacent brain tissues. Intraventricular hemorrhage occurred in 22...
January 9, 2017: Journal of Neurological Surgery. Part A, Central European Neurosurgery
https://www.readbyqxmd.com/read/28054281/a-case-of-diffuse-cavernous-hemangioma-of-the-appendix-laparoscopic-surgery-can-facilitate-diagnosis-and-treatment
#18
Chisato Takagi, Kazuo Yamafuji, Hidena Takahashi, Atsunori Asami, Kaoru Takeshima, Hideo Baba, Nobuhiko Okamoto, Kiyoshi Kubochi
BACKGROUND: A cavenous hemangioma of the appendix (CHA) is rare. The clinical pathophysiology and adequate management of a CHA have not been sufficiently explained since reports on CHA are scarce. CASE PRESENTATION: A 56-year-old woman presented with chronic right lower quadrant pain. Abdominal contrast-enhanced computed tomography revealed a thickened appendix (1.5 cm in diameter) and some focal calcifications in the appendiceal wall. No acute inflammatory signs were visible around the appendix...
December 2017: Surgical Case Reports
https://www.readbyqxmd.com/read/28009231/the-superior-fovea-triangle-approach-a-novel-safe-entry-zone-to-the-brainstem
#19
Kaan Yagmurlu, M Yashar S Kalani, Mark C Preul, Robert F Spetzler
The authors describe a safe entry zone, the superior fovea triangle, on the floor of the fourth ventricle for resection of deep dorsal pontine lesions at the level of the facial colliculus. Clinical data from a patient undergoing a suboccipital telovelar transsuperior fovea triangle approach to a deep pontine cavernous malformation were reviewed and supplemented with 6 formalin-fixed adult human brainstem and 2 silicone-injected adult human cadaveric heads using the fiber dissection technique to illustrate the utility of this novel safe entry zone...
December 23, 2016: Journal of Neurosurgery
https://www.readbyqxmd.com/read/28003363/nuclear-localization-of-integrin-cytoplasmic-domain-associated-protein-1-icap1-influences-%C3%AE-1-integrin-activation-and-recruits-krev-interaction-trapped-1-krit1-to-the-nucleus
#20
Kyle M Draheim, Clotilde Huet-Calderwood, Bertrand Simon, David A Calderwood
Binding of ICAP1 (integrin cytoplasmic domain-associated protein-1) to the cytoplasmic tails of β1 integrins inhibits integrin activation. ICAP1 also binds to KRIT1 (Krev interaction trapped-1), a protein whose loss of function leads to cerebral cavernous malformation, a cerebrovascular dysplasia occurring in up to 0.5% of the population. We previously showed that KRIT1 functions as a switch for β1 integrin activation by antagonizing ICAP1-mediated inhibition of integrin activation. Here we use overexpression studies, mutagenesis, and flow cytometry to show that ICAP1 contains a functional nuclear localization signal and that nuclear localization impairs the ability of ICAP1 to suppress integrin activation...
February 3, 2017: Journal of Biological Chemistry
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