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Cerebral cavernous malformation

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https://www.readbyqxmd.com/read/28811547/up-regulation-of-nadph-oxidase-mediated-redox-signaling-contributes-to-the-loss-of-barrier-function-in-krit1-deficient-endothelium
#1
Luca Goitre, Peter V DiStefano, Andrea Moglia, Nicholas Nobiletti, Eva Baldini, Lorenza Trabalzini, Julie Keubel, Eliana Trapani, Vladimir V Shuvaev, Vladimir R Muzykantov, Ingrid H Sarelius, Saverio Francesco Retta, Angela J Glading
The intracellular scaffold KRIT1/CCM1 is an established regulator of vascular barrier function. Loss of KRIT1 leads to decreased microvessel barrier function and to the development of the vascular disorder Cerebral Cavernous Malformation (CCM). However, how loss of KRIT1 causes the subsequent deficit in barrier function remains undefined. Previous studies have shown that loss of KRIT1 increases the production of reactive oxygen species (ROS) and exacerbates vascular permeability triggered by several inflammatory stimuli, but not TNF-α...
August 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28791783/quantitative-susceptibility-mapping-as-a-monitoring-biomarker-in-cerebral-cavernous-malformations-with-recent-hemorrhage
#2
Hussein A Zeineddine, Romuald Girard, Ying Cao, Nicholas Hobson, Maged D Fam, Agnieszka Stadnik, Huan Tan, Jingjing Shen, Kiranj Chaudagar, Robert Shenkar, Richard E Thompson, Nichol McBee, Daniel Hanley, Timothy Carroll, Gregory A Christoforidis, Issam A Awad
BACKGROUND: Quantitative Susceptibility Mapping (QSM) MRI allows accurate assessment of iron content in cerebral cavernous malformations (CCM), and a threshold increase by 6% in QSM has been shown to reflect new symptomatic hemorrhage (SH) in previously stable lesions. PURPOSE/HYPOTHESIS: It is unclear how lesional QSM evolves in CCMs after recent SH, and whether this could serve as a monitoring biomarker in clinical trials aimed at preventing rebleeding in these lesions...
August 9, 2017: Journal of Magnetic Resonance Imaging: JMRI
https://www.readbyqxmd.com/read/28768818/sofia-intermediate-catheter-and-the-snake-technique-safety-and-efficacy-of-the-sofia-catheter-without-guidewire-or-microcatheter-construct
#3
Jeremy J Heit, Johnny Hy Wong, Adrienne M Mofaff, Nicholas A Telischak, Robert L Dodd, Michael P Marks, Huy M Do
BACKGROUND: Neurointerventional surgeries (NIS) benefit from supportive endovascular constructs. Sofia is a soft-tipped, flexible, braided single lumen intermediate catheter designed for NIS. Sofia advancement from the cervical to the intracranial circulation without a luminal guidewire or microcatheter construct has not been described. OBJECTIVE: To evaluate the efficacy and safety of the new Sofia Non-wire Advancement techniKE (SNAKE) for advancement of the Sofia into the cerebral circulation...
August 2, 2017: Journal of Neurointerventional Surgery
https://www.readbyqxmd.com/read/28745674/-gene-mutations-in-patients-with-hereditary-cavernous-malformations
#4
O B Belousova, E S Bulygina, D N Okishev, E B Prohorchuk, S V Tsygankova, I N Pronin, L V Shishkina, M V Ryzhova, K G Skryabin, A N Konovalov
AIM: To identify mutations in cerebral cavernous malformation (CCM) genes in patients with hereditary and sporadic CCMs in the Russian population. MATERIAL AND METHODS: Blood samples from 73 randomly selected patients, including 29 MRI-confirmed familial cases, 8 clinically confirmed familial cases and 38 so-called sporadic cases, were examined. A search for large deletions/duplications was performed using multiplex ligation-dependent probe amplification (MPLA)...
2017: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/28744689/pediatric-cerebellar-giant-cavernous-malformation-case-report-and-review-of-literature
#5
Javier Villaseñor-Ledezma, Marcelo Budke, Juan-Antonio Alvarez-Salgado, María-Angeles Cañizares, Luis Moreno, Francisco Villarejo
BACKGROUND AND IMPORTANCE: Giant cavernous malformations (GCM) are low flow, angiographically occult vascular lesions, with a diameter >4 cm. Cerebellar GCMs are extremely rare, with only seven cases reported based on English literature. These lesions are most commonly seen in the pediatric age group, which is known to have an increased risk of hemorrhage, being surgery clearly recommended. CLINICAL PRESENTATION: An 18-month-old girl presented with a 6-month history of cervical torticollis and upper extremities clumsiness...
July 25, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28731396/contralateral-posterior-interhemispheric-approach-to-deep-medial-parietooccipital-vascular-malformations-surgical-technique-and-results
#6
Jan-Karl Burkhardt, Ethan A Winkler, Michael T Lawton
OBJECTIVE Deep medial parietooccipital arteriovenous malformations (AVMs) and cerebral cavernous malformations (CCMs) are traditionally resected through an ipsilateral posterior interhemispheric approach (IPIA), which creates a deep, perpendicular perspective with limited access to the lateral margins of the lesion. The contralateral posterior interhemispheric approach (CPIA) flips the positioning, with the midline positioned horizontally for retraction due to gravity, but with the AVM on the upper side and the approach from the contralateral, lower side...
July 21, 2017: Journal of Neurosurgery
https://www.readbyqxmd.com/read/28721350/corrigendum-cerebral-cavernous-malformations-review-of-the-genetic-and-protein-protein-interactions-resulting-in-disease-pathogenesis
#7
Jacob F Baranoski, M Yashar S Kalani, Colin J Przybylowski, Joseph M Zabramski
[This corrects the article on p. 60 in vol. 3, PMID: 27896269.].
2017: Frontiers in Surgery
https://www.readbyqxmd.com/read/28695311/aberrant-paramagnetic-signals-outside-the-tumor-volume-on-routine-surveillance-mri-of-brain-tumor-patients
#8
Shlomit Yust-Katz, Edna Inbar, Natalia Michaeli, Dror Limon, Tali Siegal
Late complications of cerebral radiation therapy (RT) involve vascular injury with acquired cavernous malformation, telangiectasias and damage to vascular walls which are well recognized in children. Its incidence in adults is unknown. Blood products and iron deposition that accompany vascular injury create paramagnetic effects on MRI. This study retrospectively investigated the frequency of paramagnetic lesions on routine surveillance MRI of adult brain tumor patients. MRI studies of 115 brain tumor patients were reviewed...
July 10, 2017: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/28679101/cerebral-cavernous-malformations
#9
Ithamar Ganmore, Anat Achiron
A 59-year-old man presented to an outpatient clinic with a 1-year history of progressively worsening headaches. Neurologic examination was normal; skin examination revealed multiple hyperkeratotic papules and bluish, nodular skin lesions. Magnetic resonance imaging of the brain revealed numerous..
July 6, 2017: New England Journal of Medicine
https://www.readbyqxmd.com/read/28645800/high-throughput-sequencing-of-the-entire-genomic-regions-of-ccm1-krit1-ccm2-and-ccm3-pdcd10-to-search-for-pathogenic-deep-intronic-splice-mutations-in-cerebral-cavernous-malformations
#10
Matthias Rath, Sönke E Jenssen, Konrad Schwefel, Stefanie Spiegler, Dana Kleimeier, Christian Sperling, Lars Kaderali, Ute Felbor
Cerebral cavernous malformations (CCM) are vascular lesions of the central nervous system that can cause headaches, seizures and hemorrhagic stroke. Disease-associated mutations have been identified in three genes: CCM1/KRIT1, CCM2 and CCM3/PDCD10. The precise proportion of deep-intronic variants in these genes and their clinical relevance is yet unknown. Here, a long-range PCR (LR-PCR) approach for target enrichment of the entire genomic regions of the three genes was combined with next generation sequencing (NGS) to screen for coding and non-coding variants...
June 20, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28643038/prevalence-of-cerebral-cavernous-malformations-associated-with-developmental-venous-anomalies-increases-with-age
#11
Waleed Brinjikji, Ali El-Rida El-Masri, John T Wald, Kelly D Flemming, Giuseppe Lanzino
BACKGROUND AND PURPOSE: To test the hypothesis that the prevalence of cerebral cavernous malformation (CCM) associated with developmental venous anomalies (DVAs) increases with age, we studied the age-related prevalence of DVA-associated CCM among patients with DVAs. MATERIALS AND METHODS: Patients with DVAs on contrast-enhanced MRI exams performed over a 2-year period were included in this study. A single neuroradiologist reviewed all imaging exams for the presence of CCMs...
June 22, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28602929/hereditary-multiple-cerebral-cavernous-malformations-associated-with-wilson-s-disease-and-multiple-lypomatosis-case-report
#12
Belousova Olga, Okishev Dmitry, Ignatova Tatyana, Balashova Maria, Boulygina Eugene
We report on the patient with two Mendelian diseases - symptomatic multiple familial cerebral cavernous malformations (FCCMs) and Wilson's disease. Genetic analysis revealed SNPs in genes CCM2 and CCM3, associated with cavernous malformations, and homozygote mutation in ATP7B gene, responsible for Wilson's disease. FCCMs were symptomatic in three generations. The patient had also multiple lipomatosis, which is suggested to be a familial syndrome. In recent years there has been an increasing amount of publications on the link of FCCMs with other pathology, predominantly with extracranial and intracranial mesenchymal anomalies...
June 8, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28590989/-it-s-not-a-tumor-a-rare-case-of-symptomatic-cerebellar-developmental-venous-anomaly
#13
Julie A Augenstein, Teresa Chapman, Michael J McNeil, Mark D Lo
Cerebral developmental venous anomalies (DVAs) are benign anatomical variants of the venous system and are commonly described as an incidental finding without clinical significance. Neurologic symptoms or abnormal examination findings are rare and usually attributed to hemorrhagic complications related to coexisting cavernous malformations. There have been limited case reports of symptomatic, uncomplicated DVAs described in the literature. The following case describes a previously healthy child who presented to the emergency department with an acute onset of altered mental status, headache, and focal neurologic examination abnormalities...
June 6, 2017: Pediatric Emergency Care
https://www.readbyqxmd.com/read/28552155/pharmacotherapy-for-cavernous-malformations
#14
Robert F Rudy, Rose Du
Cerebral cavernous malformations, vascular abnormalities comprised of endothelial cells in the absence of connective tissue or muscle, are often epileptogenic and often treated initially with antiepileptic drugs. This chapter discusses the role of pharmacotherapy in managing focal epilepsy secondary to cavernous malformations in adults, children, and pregnant women. Several drugs are available and potentially efficacious in suppressing seizures stemming from cavernous malformations. In addition, antiepileptic pharmacotherapy following surgical resection is indicated to decrease the risk of postoperative seizures...
2017: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/28552151/supratentorial-cavernous-malformations
#15
Jason A Ellis, Daniel L Barrow
Supratentorial cavernous malformations are uncommon cerebral vascular lesions that may present many unique challenges for treating physicians. The vast majority will be discovered during workup for seizures or after symptomatic intracerebral hemorrhage. Supratentorial cavernous malformations are increasingly being discovered incidentally in patients who obtain brain imaging for unrelated reasons. Management strategies including watchful waiting, antiepileptic drug therapy, microsurgery, or an expanding array of "minimally invasive" therapies...
2017: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/28552150/developmental-venous-anomalies
#16
Michael A Mooney, Joseph M Zabramski
Developmental venous anomalies (DVAs) are relatively common lesions, present in up to 3% of the population. The defining characteristic of these lesions is the confluence of radially oriented veins into a single dilated venous channel. DVAs are also known as cerebral venous angiomas, cerebral venous malformations, and cerebral venous medullary malformations. They are the most common type of cerebral vascular malformation found on autopsy studies, and they are often encountered as incidental findings on neuroimaging studies...
2017: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/28552147/radiology-and-imaging-for-cavernous-malformations
#17
Kevin Y Wang, Oluwatoyin R Idowu, Doris D M Lin
Cavernous malformations are low-flow vascular malformations that are histologically characterized by the lack of mural elements of mature vascular structures and intervening parenchymal neural tissue. They are often clinically quiescent, and may grow, bleed, and regress, but can also manifest clinically as neurologic deficits or seizures in the setting of an acute hemorrhage. The low-flow nature of cavernous malformations renders them inherently occult on cerebral angiography. Magnetic resonance imaging has become the mainstay imaging modality in evaluating cavernous malformations, producing characteristic imaging features that usually provide a straightforward diagnosis...
2017: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/28552144/natural-history-of-cerebral-cavernous-malformations
#18
Chibawanye Ene, Anand Kaul, Louis Kim
Cerebral cavernous malformations (CCM) are vascular abnormalities of the central nervous system with an incidence of 0.4-0.5% and an annual rate of hemorrhage ranging from 0.7% to 1%. Most lesions are located in the cerebral hemisphere but some occur in deeper locations such as the basal ganglia and pons. The most common symptoms during presentation are headache, seizures, and focal neurologic deficits. Surgery remains the most effective treatment modality for symptomatic CCM, while the management of incidental CCM remains controversial...
2017: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/28548106/cerebrovascular-malformations-microbiota-promotes-cerebral-cavernous-malformations
#19
Charlotte Ridler
No abstract text is available yet for this article.
July 2017: Nature Reviews. Neurology
https://www.readbyqxmd.com/read/28540119/a-case-of-a-cerebral-cavernous-malformation-of-the-third-ventricle-that-caused-the-syndrome-of-inappropriate-secretion-of-antidiuretic-hormone
#20
Takahiro Sasaki, Nobuhide Hayashi, Nagatsuki Tomura, Eisaku Tsuji, Hideo Okada, Toshikazu Kuwata
BACKGROUND: Cerebral cavernous malformations (CCMs, also known as cavernous hemanigiomas) of the third ventricle are uncommon. Here, we present a rare case of a CCM that caused the syndrome of inappropriate secretion of antidiuretic hormone (SIADH). CASE DESCRIPTION: A 68-year-old man presented with acute-onset cognitive and memory disturbance. Endocrinological examinations revealed hyponatremia due to SIADH. Computed tomography indicated a high-density mass in the third ventricle that caused left unilateral hydrocephalus due to obstruction of the foramen Monroe...
2017: Surgical Neurology International
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