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Cavernous malformation

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https://www.readbyqxmd.com/read/27923033/erratum-endothelial-exocytosis-of-angiopoietin-2-resulting-from-ccm3-deficiency-contributes-to-cerebral-cavernous-malformation
#1
Huanjiao Jenny Zhou, Lingfeng Qin, Haifeng Zhang, Wenwen Tang, Weidong Ji, Yun He, Xiaoling Liang, Zongren Wang, Qianying Yuan, Alexander Vortmeyer, Derek Toomre, Germaine Fuh, Minghong Yan, Martin S Kluger, Dianqing Wu, Wang Min
No abstract text is available yet for this article.
December 6, 2016: Nature Medicine
https://www.readbyqxmd.com/read/27915116/7t-mr-of-intracranial-pathology-preliminary-observations-and-comparisons-to-3t-and-1-5t
#2
Emmanuel C Obusez, Mark Lowe, Se-Hong Oh, Irene Wang, M S Jennifer Bullen, Paul Ruggieri, Virginia Hill, Daniel Lockwood, Todd Emch, Doksu Moon, Gareth Loy, Jonathan Lee, Matthew Kiczek, D O Manoj Massand, Volodymyr Statsevych, Todd Stultz, Stephen E Jones
PURPOSE: There have been an increasing number of studies involving ultra-high-field 7T of intracranial pathology, however, comprehensive clinical studies of neuropathology at 7T still remain limited. 7T has the advantage of a higher signal-to-noise ratio and a higher contrast-to-noise ratio, compared to current low field clinical MR scanners. We hypothesized 7T applied clinically, may improve detection and characterization of intracranial pathology. MATERIALS AND METHODS: We performed an IRB-approved 7T prospective study of patients with neurological disease who previously had lower field 3T and 1...
November 30, 2016: NeuroImage
https://www.readbyqxmd.com/read/27903178/worldwide-variance-in-the-potential-utilization-of-gamma-knife-radiosurgery
#3
Travis Hamilton, L Dade Lunsford
OBJECTIVE The role of Gamma Knife radiosurgery (GKRS) has expanded worldwide during the past 3 decades. The authors sought to evaluate whether experienced users vary in their estimate of its potential use. METHODS Sixty-six current Gamma Knife users from 24 countries responded to an electronic survey. They estimated the potential role of GKRS for benign and malignant tumors, vascular malformations, and functional disorders. These estimates were compared with published disease epidemiological statistics and the 2014 use reports provided by the Leksell Gamma Knife Society (16,750 cases)...
December 2016: Journal of Neurosurgery
https://www.readbyqxmd.com/read/27900277/incidentally-diagnosed-multiple-vascular-lesions-of-the-spleen-littoral-cell-angioma-or-hemangioma
#4
Emrah Aydin
Vascular lesions of the solid abdominal viscera may pose diagnostic and management issues. A 16-year old girl admitted to emergency department due to recurrent abdominal pain and diagnosed to have multiple vascular malformations of the spleen on imaging investigations. Littoral cell angioma was preoperative suspicion owing to no response of the vascular lesion to the propranolol. It turned out to be cavernous hemangioma on histopathology.
November 2016: APSP Journal of Case Reports
https://www.readbyqxmd.com/read/27896269/cerebral-cavernous-malformations-review-of-the-genetic-and-protein-protein-interactions-resulting-in-disease-pathogenesis
#5
REVIEW
Jacob F Baranoski, M Yashar S Kalani, Colin J Przybylowski, Joseph M Zabramski
Mutations in the genes KRIT1, CCM2, and PDCD10 are known to result in the formation of cerebral cavernous malformations (CCMs). CCMs are intracranial lesions composed of aberrantly enlarged "cavernous" endothelial channels that can result in cerebral hemorrhage, seizures, and neurologic deficits. Although these genes have been known to be associated with CCMs since the 1990s, numerous discoveries have been made that better elucidate how they and their subsequent protein products are involved in CCM pathogenesis...
2016: Frontiers in Surgery
https://www.readbyqxmd.com/read/27879448/rhoa-kinase-inhibition-with-fasudil-versus-simvastatin-in-murine-models-of-cerebral-cavernous-malformations
#6
Robert Shenkar, Changbin Shi, Cecilia Austin, Thomas Moore, Rhonda Lightle, Ying Cao, Lingjiao Zhang, Meijing Wu, Hussein A Zeineddine, Romuald Girard, David A McDonald, Autumn Rorrer, Carol Gallione, Peter Pytel, James K Liao, Douglas A Marchuk, Issam A Awad
BACKGROUND AND PURPOSE: We sought to compare the effect of chronic treatment with commonly tolerated doses of Fasudil, a specific RhoA kinase (ROCK) inhibitor, and simvastatin (with pleiotropic effects including ROCK inhibition) on cerebral cavernous malformation (CCM) genesis and maturation in 2 models that recapitulate the human disease. METHODS: Two heterozygous murine models, Ccm1(+/-)Msh2(-)(/-) and Ccm2(+/-)Trp53(-/-), were treated from weaning to 4 to 5 months of age with Fasudil (100 mg/kg per day), simvastatin (40 mg/kg per day) or with placebo...
November 22, 2016: Stroke; a Journal of Cerebral Circulation
https://www.readbyqxmd.com/read/27867915/surgical-resection-of-non-glial-tumors-in-the-motor-cortex
#7
Seong-Jong Lee, Sun-Chul Hwang, Soo Bin Im, Bum-Tae Kim
BACKGROUND: Direct surgery to resect tumors in the motor cortex could improve neurological symptoms or cause novel motor weakness. The present study describes the neurological outcomes of patients after the surgical resection of non-glial tumors in the primary motor cortex. METHODS: The present study included 25 patients who had pathologically confirmed non-glial tumors in the motor cortex for which they underwent surgery. Tumor location was verified using anatomical landmarks on preoperative magnetic resonance imaging scans...
October 2016: Brain Tumor Research and Treatment
https://www.readbyqxmd.com/read/27855656/combined-focal-myoclonus-and-dystonia-secondary-to-a-cerebellar-hemorrhage-a-case-report
#8
Guangxun Shen, Guangxian Nan, Chae-Won Shin, Hyeyoung Park, Kwee-Yum Lee, Beomseok Jeon
BACKGROUND: Myoclonus is a clinical sign characterized by sudden, brief jerky, shock-like involuntary movements of a muscle or group of muscles. Dystonia is defined as a syndrome of sustained muscle contractions, frequently causing twisting and repetitive movements or abnormal postures. Cases of myoclonus or dystonia secondary to a structural lesion in the cerebellum have been reported. However, there has never been a reported case of combined myoclonus and dystonia secondary to a cerebellar lesion...
November 17, 2016: BMC Neurology
https://www.readbyqxmd.com/read/27834594/clinical-course-of-untreated-thalamic-cavernous-malformations-hemorrhage-risk-and-neurological-outcomes
#9
Kai-Bing Tian, Jing-Jie Zheng, Jun-Peng Ma, Shu-Yu Hao, Liang Wang, Li-Wei Zhang, Zhen Wu, Jun-Ting Zhang, Da Li
OBJECTIVE The natural history of cerebral cavernous malformations (CMs) has been widely studied, but the clinical course of untreated thalamic CMs is largely unknown. Hemorrhage of these lesions can be devastating. The authors undertook this study to obtain a prospective hemorrhage rate and provide a better understanding of the prognosis of untreated thalamic CMs. METHODS This longitudinal cohort study included patients with thalamic CMs who were diagnosed between 2000 and 2015. Clinical data were recorded, radiological studies were extensively reviewed, and follow-up evaluations were performed...
November 11, 2016: Journal of Neurosurgery
https://www.readbyqxmd.com/read/27816997/gamma-knife-radiosurgery-for-neurofibromatosis-type-2-associated-meningiomas-a-22-year-patient-series
#10
Brandon Birckhead, Terence T Sio, Bruce E Pollock, Michael J Link, Nadia N Laack
Neurofibromatosis type 2 (NF2) is a debilitating genetic condition with potential development of multiple meningiomas. We report our experience treating a series of NF2-associated intracranial meningiomas with Gamma Knife radiosurgery (GKRS). Between 1992 and 2013, 15 consecutive patients (age 20-54 years) with 62 intracranial meningiomas were treated with single-fraction GKRS. Fifty-five percent of tumors involved the convexity or parasagittal/falx. The median prescription dose was 16 Gy (range 13-20 Gy)...
November 5, 2016: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/27816341/stroke-prevention
#11
Clothilde Isabel, David Calvet, Jean-Louis Mas
Patients who have had a stroke are at high risk for recurrent stroke, myocardial infarction, and vascular death. Prevention of these events should be initiated promptly after stroke, because many recurrent events occur early, and should be tailored to the precise cause of stroke, which may require specific treatment. Lifestyle advice including abstinence from smoking, regular exercise, Mediterranean-style diet, and reduction of salt intake and alcohol consumption are recommended for all patients with stroke...
November 3, 2016: La Presse Médicale
https://www.readbyqxmd.com/read/27812772/erratum-to-genetic-screening-of-pediatric-cavernous-malformations
#12
Elisa Merello, Marco Pavanello, Alessandro Consales, Samantha Mascelli, Alessandro Raso, Andrea Accogli, Armando Cama, Valeria Capra, Patrizia De Marco
No abstract text is available yet for this article.
November 3, 2016: Journal of Molecular Neuroscience: MN
https://www.readbyqxmd.com/read/27807006/rho-binding-to-fam65a-regulates-golgi-reorientation-during-cell-migration
#13
Faraz K Mardakheh, Annette Self, Christopher J Marshall
Directional cell migration involves reorientation of the secretory machinery. However, the molecular mechanisms which control this reorientation are not well characterised. Here we identify a novel Rho effector protein, named FAM65A, which binds to active RHOA, RHOB, and RHOC. FAM65A links RHO proteins to Golgi localising Cerebral Cavernous Malformation-3 protein (CCM3), and its interactors the Mammalian STE20-like protein kinases 3 and 4 (MST3 and MST4). Binding of active RHO proteins to FAM65A does not affect the kinase activity of MSTs, but results in their relocation from the Golgi apparatus in a CCM3 dependent manner...
November 2, 2016: Journal of Cell Science
https://www.readbyqxmd.com/read/27805421/isolated-intraventricular-hemorrhage-in-adults
#14
Isabelle Barnaure, Alfonso C Liberato, R Gilberto Gonzalez, Javier M Romero
While intraventricular hemorrhage (IVH) is frequently found in association with intraparenchymal or subarachnoid hemorrhage, isolated IVH is rare in adults and seldom described. Awareness of possible causes is important in order to guide patient management. After elimination of a traumatic cause, numerous etiologies remain possible. The most frequently found underlying lesions are AVMs and aneurysms, but other vascular causes should also be sought, including cavernous malformations and moyamoya disease. Arterial hypertension, anticoagulant use, coagulopathies and certain toxic substances are also associated with isolated IVH...
November 2, 2016: British Journal of Radiology
https://www.readbyqxmd.com/read/27803370/pet-imaging-of-subclinical-seizure-associated-with-intracranial-cavernous-malformations
#15
G M Healy, C E Redmond, J Kinsella, R P Killeen
We present the case of a subclinical seizure identified during positron emission tomography with 18-fluorodeoxyglucose in a patient with cavernous malformations.
October 18, 2016: QJM: Monthly Journal of the Association of Physicians
https://www.readbyqxmd.com/read/27797778/network-based-analysis-of-omics-data-the-lean-method
#16
Frederik Gwinner, Gwénola Boulday, Claire Vandiedonck, Minh Arnould, Cécile Cardoso, Iryna Nikolayeva, Oriol Guitart-Pla, Cécile V Denis, Olivier D Christophe, Johann Beghain, Elisabeth Tournier-Lasserve, Benno Schwikowski
MOTIVATION: Most computational approaches for the analysis of omics data in the context of interaction networks have very long running times, provide single or partial, often heuristic, solutions, and/or contain user-tuneable parameters. RESULTS: We introduce local enrichment analysis (LEAN) for the identification of dysregulated subnetworks from genome-wide omics data sets. By substituting the common subnetwork model with a simpler local subnetwork model, LEAN allows exact, parameter-free, efficient, and exhaustive identification of local subnetworks that are statistically dysregulated, and directly implicates single genes for follow-up experiments...
October 26, 2016: Bioinformatics
https://www.readbyqxmd.com/read/27794267/gamma-knife-radiosurgery-for-brainstem-cavernous-malformations
#17
Hong Bin Liu, Yi Wang, Sen Yang, Fei Long Gong, Yang Yang Xu, Wei Wang
OBJECTIVE: The goal of this retrospective study was to evaluate the efficacy and safety of gamma knife radiosurgery (GKS) for the treatment of brainstem cavernous malformations (CMs). METHODS: Between January of 2009 and December of 2014, 43 patients (20 males and 23 females) with brainstem CMs were treated at the West China Hospital, Sichuan University, Gamma Knife Center. The mean age of these patients was 41.7 years. All of the patients experienced 1 or more episodes of symptomatic bleeding (range 1-4) before undergoing GKS...
December 2016: Clinical Neurology and Neurosurgery
https://www.readbyqxmd.com/read/27792856/review-of-familial-cerebral-cavernous-malformations-and-report-of-seven-additional-families
#18
REVIEW
Ivo J H M de Vos, Maaike Vreeburg, Ger H Koek, Maurice A M van Steensel
Cerebral cavernous malformations are vascular anomalies of the central nervous system characterized by clusters of enlarged, leaky capillaries. They are caused by loss-of-function mutations in KRIT1, CCM2, or PDCD10. The proteins encoded by these genes are involved in four partially interconnected signaling pathways that control angiogenesis and endothelial permeability. Cerebral cavernous malformations can occur sporadically, or as a familial autosomal dominant disorder (FCCM) with incomplete clinical and neuroradiological penetrance and great inter-individual variability...
October 28, 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27790124/cerebral-cavernous-malformation-a-portuguese-family-with-a-novel-ccm1-mutation
#19
João Pedro Marto, Inês Gil, Sofia Calado, Miguel Viana-Baptista
INTRODUCTION: Cerebral cavernous malformation (CCM) is a vascular disorder characterized by the presence of central nervous system cavernomas. In familial forms, mutations in three genes (CCM1/KRIT1, CCM2/MGC4607 and CCM3/PDCD10) were identified. We describe a Portuguese family harboring a novel CCM1 mutation. CASE PRESENTATION: The proband is a woman who at the age of 55 years started to have complex partial seizures and episodic headache. Although nothing was found during her neurological examination, brain MRI showed bilateral, supra- and infratentorial cavernomas...
September 2016: Case Reports in Neurology
https://www.readbyqxmd.com/read/27769582/-orbito-palpebral-vascular-pathology
#20
F Heran Dreyfus, O Galatoire, P Koskas, F Lafitte, E Nau, O Bergès
Orbito-palpebral vascular pathology represents 10% of all the diseases of this area. The lesion may be discovered during a brain CT scan or MRI, or because it causes clinical symptoms such as orbital mass, visual or oculomotor alteration, pain, proptosis, or acute bleeding due to a complication of the lesion (hemorrhage, thrombosis). We present these lesions using an anatomical, clinical, imaging and therapeutic approach. We distinguish four different entities. Vascular tumors have common imaging characteristics (hypersignal on T2 sequence, contrast enhancement, abnormal vascularization well depicted with ultrasound and Doppler, and possible bleeding)...
October 18, 2016: Journal Français D'ophtalmologie
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