Results 1 to 10 of about 1,916 (204)

Next-Generation Sequencing Advances the Genetic Diagnosis of Cerebral Cavernous Malformation (CCM) [PDF]

Antioxidants, 2022
Cerebral Cavernous Malformation (CCM) is a cerebrovascular disease of genetic origin that predisposes to seizures, focal neurological deficits and fatal intracerebral hemorrhage. It may occur sporadically or in familial forms, segregating as an autosomal
Valerio Benedetti, Rosalia Canzoneri, Andrea Perrelli, Carlo Arduino, Andrea Zonta, Alfredo Brusco, Saverio Francesco Retta   +6 more
doaj   +6 more sources

The Role of Immune Infiltration and Oxidative Stress in the Progression of Cerebral Cavernous Malformation [PDF]

Brain and Behavior
Purpose of Review To review how the immune microenvironment and oxidative stress modulate the initiation, maturation, and hemorrhagic conversion of cerebral cavernous malformations (CCM) and to appraise the therapeutic potential of immune‐directed ...
Xuesai Zhu, Yizhi Yao, Tengbo Yu, Xiao Xiao   +3 more
doaj   +3 more sources

Focal epilepsy caused by single cerebral cavernous malformation (CCM) is associated with regional and global resting state functional connectivity (FC) disruption [PDF]

NeuroImage: Clinical, 2019
Epilepsy, including the type with focal onset, is increasingly viewed as a disorder of the brain network. Here we employed the functional connectivity (FC) metrics estimated from the resting state functional MRI (rsfMRI) to investigate the changes of ...
Jason D'Cruz, Matthew Hefner, Christina Ledbetter, Clifton Frilot, Brady Howard, Peimin Zhu, Rosario Riel-Romero, Christina Notarianni, Eduardo Gonzalez Toledo, Anil Nanda, Hai Sun   +10 more
doaj   +4 more sources

Molecular Genetic Features of Cerebral Cavernous Malformations (CCM) Patients: An Overall View from Genes to Endothelial Cells [PDF]

Cells, 2021
Cerebral cavernous malformations (CCMs) are vascular lesions that affect predominantly microvasculature in the brain and spinal cord. CCM can occur either in sporadic or familial form, characterized by autosomal dominant inheritance and development of ...
Giulia Riolo, Claudia Ricci, Stefania Battistini   +2 more
doaj   +6 more sources

Familial Multiple Cavernous Malformation Syndrome: MR Features in This Uncommon but Silent Threat [PDF]

Journal of the Belgian Society of Radiology, 2016
Cerebral cavernous malformations (CCM) are vascular malformations in the brain and spinal cord. The familial form of cerebral cavernous malformation (FCCM) is uncommon.
Marc Mespreuve, Filip Vanhoenacker, Marc Lemmerling   +2 more
doaj   +5 more sources

The frameshift Leu220Phefs*2 variant in KRIT1 accounts for early acute bleeding in patients affected by cerebral cavernous malformation [PDF]

Interdisciplinary Neurosurgery, 2021
Background and Objectives: Cerebral cavernous malformation (CCM) is a neurovascular disease characterized by abnormally expanded and tortuous microvessels with increased predisposition to thrombosis and focal hemorrhage.
Autilia Tommasina Buonagura, Teresa Somma, Francesca Vitulli, Giuseppina Vitiello, Immacolata Andolfo, Felice Esposito, Roberta Russo, Achille Iolascon, Paolo Cappabianca   +8 more
doaj   +3 more sources

Developmental venous anomaly related to de novo cerebral cavernous malformation: Imaging findings from two cases [PDF]

Radiology Case Reports
The association between a developmental venous anomaly (DVA) and a cerebral cavernous malformation (CCM) is well-established. The development of a de novo CCM (dnCCM) adjacent to a preexisting DVA suggests that certain characteristics of the ...
Sergio Gordillo Tovar, MD, Andrés Felipe Parra, MD   +1 more
doaj   +2 more sources

Systems biology and proteomic analysis of cerebral cavernous malformation [PDF]

Expert Review of Proteomics, 2014
Cerebral cavernous malformations (CCM) are vascular anomalies caused by mutations in genes encoding KRIT1, OSM and PDCD10 proteins causing hemorrhagic stroke. We examine proteomic change of loss of CCM gene expression.
Bencharit, Sompop, Byrd, Warren, Carlson, Jim, Dibble, Christopher, Edelmann, Alexander, Saldarriaga, Ivandario, Schwartz-Baxter, Sarah   +6 more
exaly   +3 more sources

Micro-CT Imaging Reveals Mekk3 Heterozygosity Prevents Cerebral Cavernous Malformations in Ccm2-Deficient Mice. [PDF]

PLoS ONE, 2016
Mutations in CCM1 (aka KRIT1), CCM2, or CCM3 (aka PDCD10) gene cause cerebral cavernous malformation in humans. Mouse models of CCM disease have been established by deleting Ccm genes in postnatal animals.
Jaesung P Choi, Matthew Foley, Zinan Zhou, Weng-Yew Wong, Naveena Gokoolparsadh, J Simon C Arthur, Dean Y Li, Xiangjian Zheng   +7 more
doaj   +4 more sources

Female hormone therapy and risk of intracranial hemorrhage and focal neurological deficits in patients with cavernous malformations of the central nervous system [PDF]

Frontiers in Neurology
BackgroundFemale hormone therapy [FHT, birth control treatment and postmenopausal hormone replacement therapy (HRT)] is not withheld from patients with cerebral cavernous malformations (CCM), notwithstanding the uncertainty surrounding the impact of ...
Saskia Wildi, Saskia Wildi, Selina Nager, Selina Nager, Victor Staartjes, Victor Staartjes, Vittorio Stumpo, Vittorio Stumpo, Sena Özkaratufan, Sena Özkaratufan, Niklaus Krayenbühl, Niklaus Krayenbühl, Niklaus Krayenbühl, Oliver Bozinov, Luca Regli, Luca Regli, Julia Velz, Julia Velz, Julia Velz   +18 more
doaj   +2 more sources