Results 11 to 20 of about 3,068 (175)

Venous Malformations in Childhood: Clinical, Histopathological and Genetics Update [PDF]

Dermatopathology, 2021
Our knowledge in vascular anomalies has grown tremendously in the past decade with the identification of key molecular pathways and genetic mutations that drive the development of vascular tumors and vascular malformations.
Isabel Colmenero, Nicole Knöpfel
doaj   +3 more sources

Natural history of familial cerebral cavernous malformations: the CCM_Italia cohort study [PDF]

Frontiers in Neurology
BackgroundFamilial cerebral cavernous malformations (fCCMs) are a rare genetic autosomal dominant cerebrovascular disease characterized by multiple cerebral and spinal angiomas. The condition is caused by mutations in KRIT1 (CCM1), CCM2 (malcavernin), or
Silvia Lanfranconi, Elisa Scola, Deborah Novelli, Anna Poggesi, Anna Poggesi, Francesca Pescini, Marco Pavanello, Ferruccio Romano, Quintino Giorgio D’Alessandris, Walter Marani, Francesco Signorelli, Giorgio Iaconetta, Giovanni Torelli, Enrico Fainardi, Mariasavina Severino, Luigi Gianmaria Remore, Luigi Gianmaria Remore, Giulio Andrea Bertani, Giorgio Conte, Valeria Capra, Antonella Vasamì, Enrico Nicolis, Giorgia Contino, Dario Ronchi, Dario Ronchi, Maria Chiara Palmieri, Alessandra Previtali, Pier Paolo Mattogno, Carmelo Lucio Sturiale, Maria Elena Solarino, Rita Caliulo, Maria Teresa Bozzi, Filippo Fratini, Filippo Fratini, Elisa R. Zanier, Roberto Latini, Jennifer Marie Theresia Anna Meessen, Marco Locatelli, Marco Locatelli, and the CCM_Italia investigators   +39 more
doaj   +2 more sources

Familial Cerebral Cavernous Malformation Mimicking Cerebral Amyloid Angiopathy. [PDF]

Neurol Clin Pract, 2021
A 67-year-old man was referred from ophthalmology for possible cerebral amyloid angiopathy (CAA) discovered during work-up of possible optic neuropathy. MRI (figure 1) demonstrated innumerable periventricular, brainstem, and cortical cerebral microhemorrhages (CMH).
Ridha M, Aziz Y, Broderick J.
europepmc   +3 more sources

Cerebral Cavernous Malformation: A Portuguese Family with a Novel CCM1 Mutation [PDF]

Case Reports in Neurology, 2016
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.
João Pedro Marto, Inês Gil, Sofia Calado, Miguel Viana-Baptista   +3 more
doaj   +3 more sources

Developing a Randomised Efficacy PREcision medicine Platform trial design for Cavernomas: the CARE PREP study

Efficacy and Mechanism Evaluation
Background Symptomatic cerebral cavernous malformations are a rare sporadic or familial disease, which may cause haemorrhagic strokes or epileptic seizures.
Rustam Al-Shahi Salman, Kasia Adamczuk, Richard A Parker, Christopher J Weir, Roberto Latini, Helen Kim, David White, Helen Evans, Jana Bergholtz, Cornelia Lee, Carlos Casaus   +10 more
doaj   +2 more sources

Familial cerebral cavernous malformation presenting with cerebellopontine angle syndrome in a patient with autosomal dominant polycystic kidney disease [PDF]

Neurology Perspectives
Ritwik Ghosh, Moisés León-Ruiz, Dipayan Roy, Julián Benito-León   +3 more
doaj   +2 more sources

Familial Cerebral Cavernous Malformations: Pathophysiology, Genetics, Biomarkers, and Treatment Perspectives. [PDF]

J Neurochem
Cerebral cavernous malformations (CCMs) are vascular lesions in the brain caused by inherited genetic mutations in the CCM1/2/3 genes that disrupt normal blood vessel function. This work demonstrates that these mutations lead to endothelial dysfunction, inflammation, and iron accumulation, which can be detected by magnetic resonance imaging (MRI) and ...
Fontes-Dantas FL, da Fontoura Galvão G, Cunha AM, de Sena Murteira Pinheiro P, Morandi V, de Souza JM.   +5 more
europepmc   +2 more sources

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

Brain Behav
Mechanism of rupture hemorrhage in cerebral cavernous malformations. Environmental and immune factors promote the progression of lesions and induce the risk of abnormal formation or rupture of cerebrovascular vessels. Abstract Purpose of Review To review how the immune microenvironment and oxidative stress modulate the initiation, maturation, and ...
Zhu X, Yao Y, Yu T, Xiao X.
europepmc   +2 more sources

A Chinese Family With Cerebral Cavernous Malformation Caused by a Frameshift Mutation of the CCM1 Gene: A Case Report and Review of the Literature

Frontiers in Neurology, 2022
BackgroundFamilial cerebral cavernous malformation (FCCM) is a vascular malformation disease closely linked to three identified genes: KRIT1/CCM1, MGC4607/CCM2 and PDCD10/CCM3.
Wenyu Liu, Wenyu Liu, Ming Liu, Ming Liu, Di Lu, Di Lu, Jiwei Wang, Jiwei Wang, Zexin Cao, Zexin Cao, Xuchen Liu, Xuchen Liu, Zichao Feng, Zichao Feng, Bin Huang, Bin Huang, Xinyu Wang, Xinyu Wang   +17 more
doaj   +1 more source

Asymptomatic Familial Multiple Cerebral Cavernous Malformation in a 73-Year-Old Woman

Case Reports in Radiology, 2021
Cerebral cavernous malformations (CCMs) are dilated blood vessels which can develop sporadically or in familial form and are the commonest malformations of blood vessels in the spinal cord and brain.
Klenam Dzefi-Tettey, Emmanuel Kobina Mesi Edzie, Philip Narteh Gorleku, Henry Kusodzi, Abdul Raman Asemah   +4 more
doaj   +1 more source