Results 51 to 60 of about 827,976 (177)

Cerebral cavernous malformation presenting as seizures [PDF]

open access: yes, 2020
Cerebral cavernous malformations (CCMs) is one of the rare vascular malformation. It is diagnosed by characteristic lesions on magnetic resonance imaging (MRI).
Farooq, Ayisha   +3 more
core  

Coexistence of Ebstein Anomaly and Cerebral Cavernous Malformation: A Case Report [PDF]

open access: yesClin Case Rep
ABSTRACT In most patients who have Ebstein anomaly (EA), neurological symptoms are either associated with thromboembolic episodes or due to arrhythmic complications. Cerebral cavernous malformation (CCM) is a vascular anomaly made up of sinusoidally dilated blood vessels, often presenting with seizure activity or intracranial bleeding.
Ahmed N   +5 more
europepmc   +2 more sources

Increased Number of White Matter Lesions in Patients with Familial Cerebral Cavernous Malformations [PDF]

open access: yes, 2015
Background and purposeFamilial cerebral cavernous malformations, an autosomal dominant disorder, result in excess morbidity and mortality in affected patients. The disorder is most prevalent in the Southwest United States, where the affected families are
Kim, H   +3 more
core   +1 more source

Fetal Familial Cerebral Cavernous Malformation With a Novel Heterozygous KRIT1 Pathogenic Variant [PDF]

open access: yes, 2021
OBJECTIVES: To identify fetal familial cerebral cavernous malformation (CCMs) and a novel mutation. METHODS: A 37-year-old pregnant woman (G4P0) presented right-handed numbness since two weeks at 31 weeks of gestation.
Liu, Y   +4 more
core   +1 more source

A Novel PKD1 Mutation Associated With Autosomal Dominant Kidney Disease and Cerebral Cavernous Malformation

open access: yesFrontiers in Neurology, 2018
Autosomal dominant polycystic kidney disease (ADPKD) is a genetic disorder characterized by the presence of renal cysts and specific extrarenal abnormalities.
Christian Thomas   +7 more
doaj   +1 more source

Inactivation of Cerebral Cavernous Malformation Genes Results in Accumulation of von Willebrand Factor and Redistribution of Weibel-Palade Bodies in Endothelial Cells

open access: yesFrontiers in Molecular Biosciences, 2021
Cerebral cavernous malformations are slow-flow thrombi-containing vessels induced by two-step inactivation of the CCM1, CCM2 or CCM3 gene within endothelial cells. They predispose to intracerebral bleedings and focal neurological deficits.
Christiane D. Much   +9 more
doaj   +1 more source

A Case Report and Overview of Familial Cerebral Cavernous Malformation Pathogenesis in an Adult Patient [PDF]

open access: yes, 2018
OBJECTIVE We present a case of a 39 year-old woman who presented with a solitary cavernous malformation hemorrhage without any other lesions, and subsequently presented several months later with a new hemorrhage from a de novo lesion.
Gooch, MD, Michael R.   +5 more
core   +1 more source

Sensitivity of patients with familial cerebral cavernous malformations to therapeutic radiation [PDF]

open access: yesJournal of Medical Imaging and Radiation Oncology, 2015
SummaryFamilial cerebral cavernous malformations are autosomal dominant conditions that can result in significant morbidity. A two‐hit mechanism is accepted as likely responsible for formation of these malformations. We present two patients with this disease who received therapeutic radiation and developed very high numbers of malformations within the ...
Michael, Golden   +5 more
openaire   +2 more sources

A Novel CCM2 Missense Variant Caused Cerebral Cavernous Malformations in a Chinese Family

open access: yesFrontiers in Neuroscience, 2021
Cerebral cavernous malformations (CCMs) are common vascular malformations in the central nervous system. Familial CCMs (FCCMs) are autosomal dominant inherited disease with incomplete penetrance and variable symptoms.
Guoqing Han   +5 more
doaj   +1 more source

Inhibition of MEKK3 Prevents Cerebral Cavernous Malformation Progression Via Restoring Endothelial Integrity and Restricting Microglial Activation

open access: yesAdvanced Science, EarlyView.
In this study, we demonstrate that aberrant MEKK3 signaling in endothelial cells and microglia drives the progression of cerebral cavernous malformations (CCMs). Furthermore, we identify DPDH as a potent small‐molecule MEKK3 inhibitor with substantial therapeutic potential for CCM treatment.
Weiwei Zheng   +17 more
wiley   +1 more source

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