Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0038454 (stroke)
 147,016 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Cerebral (brain) arteriovenous malformations (BAVMs) are a tangle of disorganized vessels that are a rare cause of hemorrhagic stroke in the general population. Although clinical presentation of hemorrhage may be related to the structure of BAVM vessels, there has been no systematic quantitative analysis of BAVM vessel morphology. Histological sections of excised BAVM lesions were prepared from patients who presented with hemorrhage (n = 14) and from patients with no history of hemorrhage (n = 22). Mean values of radius and wall thickness in each section were determined. BAVM radii were 422+/-136 microm (mean +/- SD), minimum wall thickness (thinnest portion of the wall) was 54+/-14 microm; and the minimum thickness/radius ratio was 0.23+/-0.07. Greater vessel wall thickness was associated with hemorrhagic presentation (OR= 1.1; p = 0.046) after adjusting for feeding artery pressure. Because BAVM vessels from patients presenting with hemorrhage had thicker vessel walls, the search for structural properties predisposing BAVM rupture should be expanded beyond the morphological properties analyzed here.
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PMID:Relationship of nidal vessel radius and wall thickness to brain arteriovenous malformation hemorrhage. 1211 22

Vascular patterning depends on precisely coordinated timing of endothelial cell differentiation and onset of cardiac function. Endoglin is a transmembrane receptor for members of the TGF-beta superfamily that is expressed on endothelial cells from early embryonic gestation to adult life. Heterozygous loss of function mutations in human ENDOGLIN cause Hereditary Hemorrhagic Telangiectasia Type 1, a vascular disorder characterized by arteriovenous malformations that lead to hemorrhage and stroke. Endoglin null mice die in embryogenesis with numerous lesions in the cardiovascular tree including incomplete yolk sac vessel branching and remodeling, vessel dilation, hemorrhage and abnormal cardiac morphogenesis. Since defects in multiple cardiovascular tissues confound interpretations of these observations, we performed in vivo chimeric rescue analysis using Endoglin null embryonic stem cells. We demonstrate that Endoglin is required cell autonomously for endocardial to mesenchymal transition during formation of the endocardial cushions. Endoglin null cells contribute widely to endothelium in chimeric embryos rescued from cardiac development defects, indicating that Endoglin is dispensable for angiogenesis and vascular remodeling in the midgestation embryo, but is required for early patterning of the heart.
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PMID:Endoglin is dispensable for angiogenesis, but required for endocardial cushion formation in the midgestation mouse embryo. 1970 39