Results 61 to 70 of about 827,976 (177)

A novel CCM3 mutation associated with cerebral cavernous malformation in a Chinese family

Therapeutic Advances in Neurological Disorders, 2020
Background: Cerebral cavernous malformation (CCM), especially the familial form, is a relatively rare congenital and occult vascular disease of the central nervous system.
Xiao-yu Jiang, Ying Zhang, Xiang Yin, Di Nan, Xu Wang, Jia-chun Feng, Jing Miao   +6 more
doaj   +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

Medication intake and hemorrhage risk in patients with Familial Cerebral Cavernous Malformations

Brain and Spine, 2022
OBJECTIVE The objective of this study was to analyze the impact of medication intake on hemorrhage risk in patients with familial cerebral cavernous malformation (FCCM). METHODS The authors’ institutional database was screened for ...
Santos, Alejandro N., Rauschenbach, Laurèl, Saban, Dino, Chen, Bixia, Lenkeit, Annika, Gull, Hanah Hadice, Rieß, Christoph, Deuschl, Cornelius, Schmidt, Börge, Jabbarli, Ramazan, Wrede, Karsten, Zhu, Yuan, Frank, Benedikt, Sure, Ulrich, Dammann, Philipp   +14 more
openaire   +4 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

Orbital Lymphatic Malformations Are Associated With Intracranial Vascular Anomalies

The Laryngoscope, EarlyView.
In this retrospective series, all seven patients with orbital lymphatic malformations had intracranial vascular anomalies consistent with cerebrofacial venous metameric syndrome and hotspot PIK3CA variants identified through tissue‐based sequencing. Five patients treated with alpelisib experienced symptom improvement within 6 months.
Kelsey A. Loy, Jennifer Siu, Clare Richardson, J. Nathaniel Perkins, Kaitlyn Zenner, Kevin Koo, Francisco Perez, James Bennett, Randall Bly, Danial K. Hallam, Amy Geddis, Jonathan A. Perkins   +11 more
wiley   +1 more source

Neurocysticercosis, familial cerebral cavernomas and intracranial calcifications: differential diagnosis for adequate management [PDF]

Arquivos de Neuro-Psiquiatria, 2016
Neurocysticercosis (NCC) is an endemic disease and important public health problem in some areas of the World and epilepsy is the most common neurological manifestation.
Emerson Leandro Gasparetto, Soniza Alves-Leon, Flavio Sampaio Domingues, João Thiago Frossard, Selva Paraguassu Lopes, Jorge Marcondes de Souza   +5 more
doaj   +2 more sources

Risk of Clinical Events in Presymptomatic Familial Cerebral Cavernous Malformations. [PDF]

Eur J Neurol
ABSTRACT Background and Purpose Familial cerebral cavernous malformations (fCCM) may cause focal neurological deficits (FND) due to hemorrhagic or non‐hemorrhagic events and epileptic seizures (ES).
Popa CR, Hervé D, Alili N, Dubus E, Taleb A, Fernandes F, Riant F, Lasserve ET, Lambert L, Chabriat H, Guey S.   +10 more
europepmc   +3 more sources

Human cerebral arterial morphogenesis explored by 3D microscopic imaging of cleared embryos: Bridging the gap between embryonic and adult anatomy

Journal of Anatomy, EarlyView.
We provide a description of human embryonic cerebral arterial development based on whole‐mount immunostaining, tissue clearing, three‐dimensional (3D) light‐sheet microscopy imaging, and anatomically informed virtual segmentation of human embryos. Findings are compared with adult radiological anatomy. We provide a detailed account of the development of
Eimad Shotar, Raphaël Blain, Aymeric Nadjem, Nermine Saidi, Megumi Inoue, Daniel Smith‐Paredes, Miccaella Vergara, Armelle Lesaunier, Quentin Rappeneau, Joséphine Blevinal, Gérard Couly, Julien Burel, Julien Allard, Kevin Premat, Stéphanie Lenck, Pierre‐Marie Chiaroni, Erwah Kalsoum, Maryne Toupin, Séverine Mazaud‐Guittot, Diane Rebourcet, Paolo Giacobini, Olivier Naggara, Hugo Gortais, Grégoire Boulouis, Alexis Guédon, Philippe Gailloud, Frédéric Glicenstein, Anaïs Favre, Frédéric Clarençon, Yorick Gitton, Alain Chédotal   +30 more
wiley   +1 more source

Pilot investigation of circulating angiogenic and inflammatory biomarkers associated with vascular malformations

Orphanet Journal of Rare Diseases, 2021
Background Vascular malformations in the central nervous system are difficult to monitor and treat due to their inaccessible location. Angiogenic and inflammatory proteins are secreted into the bloodstream and may serve as useful biomarkers for ...
Sarah E. Wetzel-Strong, Shantel Weinsheimer, Jeffrey Nelson, Ludmila Pawlikowska, Dewi Clark, Mark D. Starr, Yingmiao Liu, Helen Kim, Marie E. Faughnan, Andrew B. Nixon, Douglas A. Marchuk   +10 more
doaj   +1 more source

Capillary malformation/arteriovenous malformation

, 2020
Vascular anomalies are a heterogeneous group of disor- ders divided into tumors and malformations based on clinical, radiologic, and immunohistochemical studies.
Boon, Laurence M., Revencu, Nicole, Vikkula, Miikka, Laurence M. Boon, Nicole Revencu, Miikka Vikkula   +5 more
core   +1 more source