ABSTRACT
Objective: To compare the diagnostic value of two-dimensional time-of-flight (2D TOF) magnetic resonance venography in the sagittal plane, 2D TOF in the coronal plane, and three-dimensional contrast-enhanced magnetic resonance venography (3D CE-MRV) for intracranial venous sinus disease. Methods: Thirteen patients were suspected of having intracranial venous system abnormalities in the Neuro-surgical Outpatient Department, Xuanwu Hospital, Capital Medical University were included from July 2011 to March 2012. 2D TOF and 3D CE-MRV scan in the sagittal and coronal planes were performed at the same time. Maximum intensity projection (MIP) was used for 3D reconstruction. The diagnostic results were compared with DSA. The sensitivity, specificity, positive predictive value, negative predictive value and Kappa value of the 8 main vein structures (superior sagittal sinus, straight sinus, bilateral transverse sinus, bilateral sigmoid sinus and bilateral transverse-sigmoid sinus junction) of the 2D TOF in the sagittal plane, 2D TOF in the coronal plane, and 2D TOF in the sagittal plane in combination with coronal plane were calculated. Results: Circled digit oneCompared to the diagnostic results of DSA, there was significant difference in using the diagnosis with TOF in the sagittal plane or coronal plane alone (all P 0.05). Circled digit twoTaking DSA as a standard, the consistency of 3D CE-MRV and DSA conclusions was the highest (P<0.01, Kappa =0.933). The sensitivity, specificity, positive predictive value, and negative predicting value were 94.4%, 98.8%, 94.4%, and 98.8%, respectively. The consistency of the diagnostic results of 2D TOF in the coronal plane in combination with sagittal plane and the DSA conclusions were higher than that of 2D TOF in the coronal plane or 2D TOF in the sagittal plane alone (Kappa values were 0.815, 0.635, and 0.608, respectively). Conclusion: When it is difficult to diagnose intracranial venous sinus disease with 2D TOF in the coronal plane or 2D TOF in the sagittal plane alone, the 2D TOF sequence of other direction should be added, the collaborative diagnosis of both may improve the accuracy of diagnosis. The diagnosis of 3D CE-MRV and DSA showed a high degree of consistency. They may be used as a routine examination for the diagnosis of cerebral venous sinus disease.
ABSTRACT
Objective To screen the mutation of certain gene of a 10-years-old boy with multiple xanthomas and very high level of cholesterol who could be diagnosed as homozygous familial hypercholesterolemia (FH),to explore the relationship between the genotype and phenotype,and to discuss the molecular pathologic mechanism.Methods The basic information of life styles were asked from the boy and his familial members.The blood was drown to examine the lipid and genes.The boy was examined with electrocardiogram examination,ultrasonography and coronary CT angiography (CTA) to evaluate the degree of atherosclerosis.Peripheral blood DNA of the boy and his parents were extracted by phenol-chloroform method and investigated for mutations of promoter and all 18 exons of low density lipoprotein receptor(LDLR) gene.Screening was carried out by using Touch-down polymerase chain reaction (PCR) and single strand conformation polymorphism(PCR-SSCP),combined with DNA sequence analysis.In addition,the apolipoprotein B100 gene(apoB100) for known mutations (R3500Q) which caused familial defective apoB100 was screened by PCR-DNA sequence analysis.Results 1.The level of cholesterol of his parents were higher than the normal.2.Several clinical manifestations of atherosclerosis were detected from that boy.Increased intima-media thickness and plaques were detected in the common carotid artery.Mitral valve regurgitation was found by echocardiography.Coronary stenosis was confirmed by CTA.3.No mutations R3500Q of apoB100 was observed.4.A homozygous mutation in exon13 of the LDLR gene (D601Y) were identified in the boy and his parents harbour D601Y heterozygous mutation due to a single base pair substitution of G for T in the codon for residue 1864.Conclusions The final diagnosis of the boy with multiple xanthomas was homozygous FH.His disease was caused by D601Y homozygous mutation in exon13 of the LDLR gene inherited from his heterozygous parents.