Cerebral cavernous malformations (CCMs) are a neurological disorder characterized by enlarged intracranial capillaries in the brain, increasing the susceptibility to hemorrhagic strokes, a major cause of death and disability worldwide. The limited treatment options for CCMs underscore the importance of prognostic biomarkers to predict the likelihood of hemorrhagic events, aiding in treatment decisions and identifying potential pharmacological targets. This study aimed to identify blood biomarkers capable of diagnosing and predicting the risk of hemorrhage in CCM1 patients, establishing an initial set of circulating biomarker signatures. By analyzing proteomic profiles from both human and mouse CCM models and conducting pathway enrichment analyses, we compared groups to identify potential blood biomarkers with statistical significance. Specific candidate biomarkers primarily associated with metabolism and blood clotting pathways were identified. These biomarkers show promise as prognostic indicators for CCM1 deficiency and the risk of hemorrhagic stroke, strongly correlating with the likelihood of hemorrhagic cerebral cavernous malformations (CCMs). This lays the groundwork for further investigation into blood biomarkers to assess the risk of hemorrhagic CCMs.
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http://dx.doi.org/10.3390/ijms25094740 | DOI Listing |
Surg Neurol Int
December 2024
Department of Surgery, Section of Neurosurgery, Aga Khan University, Karachi, Pakistan.
Background: Intracranial arteriovenous malformations (AVMs) are extremely rare in the pediatric population, with an estimated prevalence of 0.014-0.028%.
View Article and Find Full Text PDFPathogens
December 2024
Pediatric Infectious Disease Unit, Children's Hospital of Parma, 43126 Parma, Italy.
In recent years, an increasing number of reports have described invasive infections caused by bacteria from (SAGs). seems to be more related with pleuropulmonary infections and abscess of the brain and deep soft tissues, and it is more likely to cause suppurative and non-bacteremic infections compared to other members of the same genus. We present two clinical cases of invasive infections in pediatric patients: a liver abscess case and a pansinusitis case associated with bilateral otomastoiditis and parapharyngeal abscess complicated by acute mediastinitis, thrombophlebitis of the cavernous sinus, and thrombosis of the cranial tract of the ipsilateral jugular vein.
View Article and Find Full Text PDFMedicina (Kaunas)
December 2024
Department of Neurosurgery, Chung Shan Medical University Hospital, Taichung City 402, Taiwan, China.
Traumatic direct type carotid cavernous fistula (CCF) is an acquired arteriovenous shunt between the carotid artery and the cavernous sinus post severe craniofacial trauma or iatrogenic injury. We reported a 46-year-old woman who had developed a traumatic direct type CCF after severe head trauma with a skull base fracture and brain contusion hemorrhage. The clinical manifestations of the patient included pulsatile exophthalmos, proptosis, bruits, chemosis, and a decline in consciousness.
View Article and Find Full Text PDFJ Clin Med
December 2024
Department of Neurosurgery, "Carol Davila" University of Medicine and Pharmacy, 050474 Bucharest, Romania.
: Cerebral cavernous malformations (CCMs), particularly when located in the cerebellum, pose unique clinical challenges due to the risk of hemorrhage and proximity to critical neurovascular structures. Surgical resection is often necessary to prevent further neurological deterioration. This case report describes the management of a symptomatic cerebellar cavernoma, emphasizing the use of microsurgical techniques and long-term follow-up.
View Article and Find Full Text PDFClin Genet
January 2025
Department of Human Genetics, Research Institute, National Center for Global Health and Medicine, Tokyo, Japan.
Heterozygous pathogenic variants in MBD5 (MIM*611472) and CCM2 (MIM*607929) cause autosomal dominant intellectual developmental disorder 1 (MIM#156200) and cerebral cavernous malformations-2 (MIM#603284), respectively. Both conditions may present with seizures, epilepsy, and status epilepticus. However, super-refractory status epilepticus, defined as seizures lasting more than 24 h, has not been described in either condition.
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