Giant intracranial aneurysm.
Ontology highlight
ABSTRACT:
SUBMITTER: Scozzafava J
PROVIDER: S-EPMC3114938 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:Based on sequencing technology to evaluate the differential lncRNA and mRNA expression of intracranial aneurysms. Provide ideas for the study of epigenetic regulation of intracranial aneurysms
2020-09-26 | GSE158558 | GEO
Project description:As the EU IP @neurIST Project aims at integrating biomedical informatics technologies in the assessment of rupture risks and treatments of cerebral aneurysms in humans. Genetic involvement in the disease is known, mRNA biomarkers will be searched as possible risk factors in easy to assess PBMCs (peripheral blood cells). The aim of this pilot study is specifically to check the clinical samples going from the patientï¾s bed side to the genomic analysis platform. Briefly, we hybridized biotin labelled cRNA from 2 controls (C1, C2), 1 patient bearing an intracranial aneurysm (I) and 1 patients bearing an intracranial aneurysm and subarachnoid haemorrhage (S). For each sample, one technical replicate was performed. Thus a total of 8 arrays was used.
2010-12-01 | E-TABM-421 | biostudies-arrayexpress
Project description:Intracranial aneurysm is a cerebrovascular disorder in which degeneration of intima and internal elastic lamina of a cerebral artery or vein causes a localized dilation or ballooning of the blood vessel. Different molecular mechanisms are involved in sIA formation in patients. We used microarrays to detail the gene expression of intracranial aneurysm.
2016-12-01 | GSE75436 | GEO
Project description:Intracranial aneurysm (IA) is a pathological dilation of the cerebral artery which has a potential to rupture leading to sub arachnoid haemorrhage (SAH). One third of the patients with aneurysmal SAH (aSAH) develop symptomatic narrowing of the blood vessels called cerebral vasospasm. The outcomes in the above clinical scenarios are variable and devastating. The study was designed to decipher the molecular mechanisms underlying the pathophysiology of intracranial aneurysm formation, its rupture and subsequent development of vasospasm at the proteomic level. The study was done in two phases – discovery phase and validation phase. We performed iTRAQ-based quantitative proteomic analysis of brain vessel tissue and serum samples in three subgroups of patients with IA and compared them with those of control group (subjects with no cerebrovascular disorder) during the discovery phase. In validation phase, dysregulated proteins of biological significance i.e. ORM1 as a biomarker for unruptured aneurysm and MMP9 as a biomarker for cerebral vasospasm were validated in larger cohort of patients.
2022-09-07 | PXD013442 | Pride
Project description:Intracranial aneurysm sequencing data
| PRJNA665639 | ENA
Project description:Background and purposeEvidence supports a substantial genetic contribution to the risk of intracranial aneurysm (IA). The purpose of this study was to identify chromosomal regions likely to harbor genes that contribute to the risk of IA.MethodsMultiplex families having at least 2 individuals with "definite" or "probable" IA were ascertained through an international consortium. First-degree relatives of individuals with IA who were at increased risk of an IA because of a history of hypertension or present smoking were offered cerebral magnetic resonance angiography. A genome screen was completed using the Illumina 6K SNP system, and the resulting data from 192 families, containing 1155 genotyped individuals, were analyzed. Narrow and broad disease definitions were used when testing for linkage using multipoint model-independent methods. Ordered subset analysis was performed to test for a gene x smoking (pack-years) interaction.ResultsThe greatest evidence of linkage was found on chromosomes 4 (LOD=2.5; 156 cM), 7 (LOD=1.7; 183 cM), 8 (LOD=1.9; 70 cM), and 12 (LOD=1.6; 102 cM) using the broad disease definition. Using the average pack-years for the affected individuals in each family, the genes on chromosomes 4 (LOD=3.5; P=0.03), 7 (LOD=4.1; P=0.01) and 12 (LOD=3.6; P=0.02) all appear to be modulated by the degree of smoking in the affected members of the family. On chromosome 8, inclusion of smoking as a covariate did not significantly strengthen the linkage evidence, suggesting no interaction between the loci in this region and smoking.ConclusionsWe have detected possible evidence of linkage to 4 chromosomal regions. There is potential evidence for a gene x smoking interaction with 3 of the loci.
| S-EPMC2435164 | biostudies-literature
Project description:BackgroundIndividuals with 1st degree relatives harboring an intracranial aneurysm (IA) are at an increased risk of IA, suggesting genetic variation is an important risk factor.MethodsFamilies with multiple members having ruptured or unruptured IA were recruited and all available medical records and imaging data were reviewed to classify possible IA subjects as definite, probable or possible IA or not a case. A 6 K SNP genome screen was performed in 333 families, representing the largest linkage study of IA reported to date. A 'narrow' (n = 705 definite IA cases) and 'broad' (n = 866 definite or probable IA) disease definition were used in multipoint model-free linkage analysis and parametric linkage analysis, maximizing disease parameters. Ordered subset analysis (OSA) was used to detect gene x smoking interaction.ResultsModel-free linkage analyses detected modest evidence of possible linkage (all LOD < 1.5). Parametric analyses yielded an unadjusted LOD score of 2.6 on chromosome 4q (162 cM) and 3.1 on chromosome 12p (50 cM). Significant evidence for a gene x smoking interaction was detected using both disease models on chromosome 7p (60 cM; p </= 0.01). Our study provides modest evidence of possible linkage to several chromosomes.ConclusionThese data suggest it is unlikely that there is a single common variant with a strong effect in the majority of the IA families. Rather, it is likely that multiple genetic and environmental risk factors contribute to the susceptibility for intracranial aneurysms.
| S-EPMC2636777 | biostudies-literature
Project description:BackgroundIntracranial aneurysm (IA) rupture is life-threatening. However, the mechanisms underlying IA initiation, progression, and rupture remain poorly understood. In the present study, we examined the role of primary cilia in IA development.ResultsIA was experimentally induced in mice with elastase and angiotensin II treatment. The number of cells with primary cilia was determined in both IA and peri-IA regions. The role of primary cilia in IA development was assessed through knocking out or manipulating the expression of important components of primary cilia. Finally the role of primary cilia in human IA patients was studied. In the mice model of IA, the primary cilia number was significantly decreased in the IA region. Knocking out Polycystin 1, Polycystin 2, and Intraflagellar Transport 88 in mice would increase the susceptibility of mice to IA development. The IA development could be modulated through manipulating the pathways that regulate primary cilia dynamics. And chemical screening showed that the three factors (PHA 680623, Rapamycin, and Forskolin) could efficiently suppress the IA development. Finally, we demonstrated that the primary cilia deficiency in IA development is conserved in humans. And IA patients had a higher frequency of gene mutations which are related to primary cilia regulation.ConclusionOur study provides an important support for the role of primary cilia in the development of IA. The primary cilia stabilizing chemicals might be useful for preventing IA development.
| S-EPMC5895168 | biostudies-literature
Project description:This case presents a woman in her early 20s who died after the sudden onset of chest pain. Five years earlier, she was investigated for a cardiac murmur during pregnancy and an echocardiogram revealed a 6.0×3.0?cm blood-filled sac compressing the left atrium and anterolateral aspect of the left ventricle with communication to the aortic root. She later had a CT scan of the chest with contrast, which showed aneurysmal dilatation of the left main coronary artery. She was placed on aspirin but defaulted from clinic 11 months post partum. At autopsy, a left coronary aneurysmal sac measuring 10.0×9.0?cm. was identified with a rupture measuring 7.0?cm in length and the pericardial sac contained 900?mL of blood with clots. The cause of death was cardiac tamponade secondary to rupture of the coronary artery aneurysm.
| S-EPMC5878404 | biostudies-literature
Project description:Basilar artery perforator aneurysms (BAPA's) are a rare entity. Their natural history and treatment are unclear. We describe the largest BAPA reported thus far in literature in a 64-year-old Caucasian woman. This patient did not present with subarachnoid hemorrhage, but with left hemiparesis due to pontine ischemia. The aneurysm was initially misdiagnosed as a tumoral mass in a referring center. Angiography confirmed the presence of a BAPA and a flow diverter was successfully placed. This case shows us that a BAPA can mimic a tumoral mass and can cause ischemia due to mass effect without having ruptured. Both conservative and flow diverter placement seems viable treatment options. Individual patient characteristics and preferences should be considered in decision-making for treatment.
| S-EPMC8762371 | biostudies-literature