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lüll Familial versus sporadic cavernous malformations: differences in developmental venous anomaly association and lesion phenotype Petersen TA; Morrison LA; Schrader RM; Hart BLAJNR Am J Neuroradiol 2010[Feb]; 31 (2): 377-82BACKGROUND AND PURPOSE: CCMs are commonly associated with DVAs, but the incidence of association in familial CCM is unknown. The presence of a DVA significantly complicates surgical management of a CCM because of the risk of compromised venous drainage. In this investigation, we compared the incidence of a DVA in the presence of a CCM in sporadic and familial CCM cases comprising predominantly familial CCM with the Southwestern US common Hispanic mutation (or Q455X mutation) of CCM1. MATERIALS AND METHODS: Retrospective review was performed of 112 patients identified with CCM. MR imaging review included the presence or absence of a DVA and number, location, size, and signal-intensity characteristics of CCMs. Record review included patient and family history and documented genetic mutations. Statistical analysis was performed by using the Fisher exact and 2-sample t tests. RESULTS: Eighty-one cases were familial, 18 were sporadic, and 13 were indeterminate. There were a total of 2212 CCMs: 2176, 21, and 15 in the familial, sporadic, and indeterminate groups, respectively. There was a close association of CCM and DVA (an apparent combined vascular lesion) in 8 of 18 (44%) sporadic cases and only 1 possible such association in the familial cases. The difference was highly statistically significant (P < .0001). CONCLUSIONS: Familial CCMs are unlikely to be associated with DVAs, and sporadic CCMs have a high rate of association with DVA. This difference in imaging features of familial and sporadic CCMs suggests the possibility of a different developmental mechanism.|*Magnetic Resonance Imaging[MESH]|Adolescent[MESH]|Adult[MESH]|Aged[MESH]|Aged, 80 and over[MESH]|Cerebral Veins/*abnormalities[MESH]|Child[MESH]|Child, Preschool[MESH]|Female[MESH]|Genetic Predisposition to Disease/epidemiology[MESH]|Hemangioma, Cavernous, Central Nervous System/epidemiology/*genetics/*pathology[MESH]|Humans[MESH]|Infant[MESH]|KRIT1 Protein[MESH]|Male[MESH]|Microtubule-Associated Proteins/*genetics[MESH]|Middle Aged[MESH]|Phenotype[MESH]|Proto-Oncogene Proteins/*genetics[MESH]|Retrospective Studies[MESH]|Risk Factors[MESH]|Young Adult[MESH] |