Results 41 to 50 of about 613,500 (197)

A Novel CCM2 Gene Mutation Associated With Cerebral Cavernous Malformation

Frontiers in Neurology, 2020
Cerebral cavernous malformations (CCMs) are the second most prevalent type of vascular malformation within the central nervous system. CCMs occur in two forms—sporadic and familial—the latter of which has an autosomal dominant mode of inheritance with ...
Lipeng Yang, Jian Wu, Jing Zhang
doaj   +1 more source

Generation of Cerebral Cavernous Malformation in Neonatal Mouse Models Using Inducible Cre-LoxP Strategy.

, 2020
Mutations in the CCM1 (aka KRIT1), CCM2, or CCM3 (aka PDCD10) gene cause cerebral cavernous malformation (CCM) in humans. Neonatal mouse models of CCM disease have been established by deleting any one of the Ccm genes.
Choi, JP, Zheng, X, Jaesung P. Choi, Xiangjian Zheng   +3 more
core   +1 more source

Cerebral proliferative angiopathy accompanied by cerebral cavernous malformation: A case report

, 2021
Cerebral Proliferative Angiopathy (CPA) is a rare vascular malformation that is distinguished from classical brain arteriovenous malformations (AVM) in its imaging findings and clinical progression but more importantly in its pathophysiology.
Akgül, Erol, Engin, Eyüp Furkan, Ertan Akan, Gülhan, Polat, Burcu, Eyüp Furkan Engin, Burcu Polat, Gülhan Ertan Akan, Erol Akgül   +7 more
core   +1 more source

A Japanese case of successful surgical resection of cerebral cavernous malformations with a CCM2 mutation [PDF]

, 2022
Cerebral cavernous malformations (CCMs) are congenital abnormalities of cerebral vessels. Surgical resection is rarely considered for the control of epilepsy in a first seizure patient with vascular malformation.
Akagawa, Hiroyuki, Sasaki, Tatsuya, Hiroyuki Akagawa, Nakano, Yumiko, Taijun Yunoki, Koji Abe, Yamashita, Toru, Omote, Yoshio, Mami Takemoto, Yumiko Nakano, Nozomi Hishikawa, Emi Nomura, Nomura, Emi, Yunoki, Taijun, Tatsuya Sasaki, Morihara, Ryuta, Toru Yamashita, Takemoto, Mami, Ryuta Morihara, Yoshio Omote, Hishikawa, Nozomi, Abe, Koji   +21 more
core   +1 more source

Precision Nanomedicine for Traumatic Neural Injury: Functional Paradigms and Translational Frameworks

Advanced Science, EarlyView.
This review presents a pathology‐driven framework unifying nanomedicine across TBI, SCI, and PNI. Epidemiological evidence and comparative single‐cell transcriptomic reanalysis define shared pathological modules, injury‐specific effectors, and therapeutic bottlenecks. Six functional paradigms connect nanomaterial structure and biological fate to injury‐
Mouyuan Sun, Shuangyang Li, Zhixu He, Jingyi Xie, Yaxian Luo, Xuankai Fan, Jingyu Zhang, Luying Qin, Lianjie Peng, Tao Qiu, Tian Zhang, Huiming Wang, Mengfei Yu   +12 more
wiley   +1 more source

Clinical Reasoning: Cerebral cavernous malformations [PDF]

Neurology, 2009
A 40-year-old man presented for management of seizures. His first seizure was 5 years earlier. Evaluation at that time revealed a hemorrhagic lesion near the occipital horn of the left lateral ventricle. Incomplete surgical excision was performed with indeterminate pathology suggestive of an astrocytoma.
Lama M, Chahine, Michel J, Berg
openaire   +2 more sources

A Rare Form of Microcephalic Primordial Dwarfism due to NSMCE2 Deficiency (Seckel Syndrome Type 10): A Report of Macular Involvement

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic variants in NSMCE2 (MMS21), which encodes the SUMO E3 ligase subunit of the SMC5/6 chromatin‐maintenance complex, have recently been implicated in microcephalic primordial dwarfism (MPD), corresponding to Seckel syndrome type 10 (OMIM #617246).
Cristina Peduto, Céline Huber, Clément Paya, Isabelle Audo, Nathalie Boddaert, Valérie Cormier‐Daire   +5 more
wiley   +1 more source

Brainstem Cavernous Malformation Mimicking Glioma in Neurofibromatosis Type 1: A Rare Diagnostic Pitfall

Diagnostics
Background and Objectives: A cerebral cavernous malformation (cavernoma) is a lesion composed of clustered abnormal capillary channels lacking normal brain parenchyma between them.
Arturs Laganovskis, Julija Dolgopolova, Cenk Eraslan, Karina Biserova, Ilze Strumfa, Marta Pūpola, Arturs Balodis   +6 more
doaj   +1 more source

Cerebral Glioblastoma Mimicking a Cavernous Malformation: A Case Report and Literature Review

Brain Science Advances, 2017
Glioblastomas are highly malignant and invasive brain tumors. Cerebral cavernous malformations (CCMs) are vascular diseases of congenital and occult vascular dysplasia, which may arise sporadically or may be inherited due to autosomal dominant condition.
Jiefei Li, Yuqi Zhang, Huancong Zuo
doaj   +1 more source

Coexistent cerebral metastasis and cavernous malformation [PDF]

Journal of Neurology, Neurosurgery & Psychiatry, 2003
We report the case of a 66 year old man with squamous cell carcinoma of the lung who presented with a seizure. On magnetic resonance imaging (MRI), the contrast enhanced T1-weighted image showed a 2 cm lesion suggestive of a cavernous malformation (fig 1A). A gradient echo sequence revealed a solitary haemorrhagic focus (fig 1B).
G, Rao, R L, Jensen
openaire   +2 more sources