Results 71 to 80 of about 9,788 (221)

Genetic testing for cerebral cavernous malformations

The EuroBiotech Journal, 2018
Cavernous cerebral malformations (CCM) are vascular malformations of the brain and spinal cord. CCM affect up to 0.5% of the general population, predisposing to headaches, seizures, cerebral hemorrhage and focal neurological deficit.
Rakhmanov Yeltay, Maltese Paolo Enrico, Marinelli Carla, D’Agruma Leonardo, Beccari Tommaso, Dundar Munis, Bertelli Matteo   +6 more
doaj   +1 more source

The dural angioleiomyoma harbors frequent GJA4 mutation and a distinct DNA methylation profile

Acta Neuropathologica Communications, 2022
The International Society for the Study of Vascular Anomalies (ISSVA) has defined four vascular lesions in the central nervous system (CNS): arteriovenous malformations, cavernous angiomas (also known as cerebral cavernous malformations), venous ...
Arnault Tauziède-Espariat, Thibaut Pierre, Michel Wassef, David Castel, Florence Riant, Jacques Grill, Alexandre Roux, Johan Pallud, Edouard Dezamis, Damien Bresson, Sandro Benichi, Thomas Blauwblomme, Djallel Benzohra, Guillaume Gauchotte, Celso Pouget, Sophie Colnat-Coulbois, Karima Mokhtari, Corinne Balleyguier, Frédérique Larousserie, Volodia Dangouloff-Ros, Nathalie Boddaert, Marie-Anne Debily, Lauren Hasty, Marc Polivka, Homa Adle-Biassette, Alice Métais, Emmanuèle Lechapt, Fabrice Chrétien, Felix Sahm, Philipp Sievers, Pascale Varlet, the RENOCLIP-LOC   +31 more
doaj   +1 more source

The cerebral cavernous malformations proteins

Oncotarget, 2015
Inherited mutations in three genes lead to the familial form of Cerebral Cavernous Malformations (CCM). These vascular dysplasias most commonly occur in the brain, and manifest as dilated, mulberry-shaped lesions with a single endothelial layer. The consequences of these lesions can be leakage and sequelae such as focal neurological deficits, epilepsy,
Xiaofeng, Li, Oriana S, Fisher, Titus J, Boggon   +2 more
openaire   +2 more sources

STK25 Loss Augments Anti‐PD‐1 Therapy Efficacy by Regulating PD‐L1 Stability in Colorectal Cancer

Advanced Science, Volume 12, Issue 39, October 20, 2025.
This study demonstrates that STK25 depletion facilitates CRC immune escape through the inhibition of PD‐L1 Ser283 phosphorylation‐mediated ubiquitination, and promotes tumor growth. Furthermore, these findings identify STK25 as a potential therapeutic target to trigger antitumor immunity and promote immunotherapy efficacy. Abstract Tumor immune evasion
Xiaowen Qiao, Pu Xing, Hao Hao, Jiangbo Chen, Lin Song, Yifan Hou, Xinying Yang, Kai Weng, Jie Chen, Pin Gao, Tongkun Song, Hong Yang, Tianqi Liu, Yumeng Ran, Bo Chen, Wei Zhao, Jiabo Di, Zaozao Wang, Jun Zhang, Xiangqian Su, Beihai Jiang   +20 more
wiley   +1 more source

Cavernous malformations: surgical management in Belo Horizonte Santa Casa Hospital [PDF]

, 2004
The better understanding of the natural history of the cavernous malformations and the improvement of diagnostic methods and of microsurgical techniques have made the management of cavernous malformations possible through the conservative treatment ...
Carvalho, Gervásio Teles Cardoso de, Fagundes-Pereyra, Wladimir Jose, Faria, Marcello Penteado, Sousa, Atos Alves de   +3 more
core   +3 more sources

Chromosome 3q22.2‐q26.2 Interstitial Deletion in a Patient With Wisconsin Syndrome, Blepharophimosis‐Ptosis‐Epicanthus Inversus Syndrome, Dandy‐Walker Malformation, Pierre Robin Sequence, and Recurrent Infections

American Journal of Medical Genetics Part A, Volume 197, Issue 10, October 2025.
ABSTRACT Wisconsin syndrome is a very rare genetic condition characterized by coarse facies, prominent nasal tip, bushy high arched/upsweeping eyebrows, and a full/everted lower lip. Deletion of chromosome 3q24q25 region is considered critical for its manifestation.
Pankaj Prasun, Sonja Henry, Vivek Balasubramaniam   +2 more
wiley   +1 more source

Combination of multiple cerebral cavernous malformations with a falx meningioma: A clinical case

Кубанский научный медицинский вестник
Introduction. Cerebral cavernous malformations may coexist with various disorders of the central nervous system, including brain tumors. There are few descriptions of combined cavernous malformations and meningiomas in the literature.
L. V. Shagal, A. R. Eremyan, A. I. Berdnik, G. R. Obivalina, G. G. Muzlaev   +4 more
doaj   +1 more source

Diagnóstico molecular de cavernomatosis cerebral

Neurología, 2017
Resumen: Introducción: Las malformaciones cavernosas cerebrales (CCM; OMIM 116860) son engrosamientos cavernosos vasculares sin intervención del parénquima cerebral con una prevalencia estimada en la población general del 0,1-0,5%.
R. Mondejar, M. Lucas
doaj   +1 more source

[Cerebral cavernous malformations].

Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke, 2005
Cerebral cavernous malformations exist in sporadic and familial forms. They have considerable genetic and clinical heterogeneity. Better understanding of these disorders may improve management.This review is based on personal experience and recent literature.Cerebral cavernous malformations are venous malformations that can be detected with gradient ...
Jeanette, Koht, Geir J, Braathen, Dirk, Neubert, Michael Bjørn, Russell   +3 more
openaire   +1 more source

Unusual co-occurrence of hypertrophic inferior olivary degeneration with infratentorial cavernomatosis and orbital cavernous hemangioma

Radiology Case Reports
Hypertrophic olivary degeneration (HOD) is a rare condition resulting from a lesion in the Guillain-Mollaret triangle (GMT), causing transsynaptic degeneration and hypertrophy of the inferior olivary nucleus (ION).
Jihane EL Houssni, Salma Malak Ridah, Sanae Jellal, Meryem Edderai, Hassan EN Nouali, Jamal EL Fenni, Tarik Salaheddine   +6 more
doaj   +1 more source