Accuracy of unenhanced CT in the diagnosis of cerebral venous sinus thrombosis.

OBJECTIVES: To evaluate the diagnostic performance of unenhanced brain CT (NECT) in identifying patients with cerebral venous sinus thrombosis (CVT). METHODS: Forty-eight consecutive patients with CVT and 48 healthy controls were included in our retrospective study. All patients underwent NECT and CT/MR angiography within 24 h. Two radiologists independently evaluated NECT images for the presence of sinus hyperdensity; discrepancies were solved by consensus. Sinus attenuation was measured in seven sites. The obtained data were compared with the presence of CVT at CT/MR angiography and with patients' hematocrit. RESULTS: Interobserver agreement in sinus hyperdensity detection was good (k = 0.64). The presence of sinus hyperdensity at NECT enabled to detect patients with CVT with 81% sensitivity, 77% specificity, 78% PPV, and 80% NPV. Mean attenuation was significantly higher in sinus segments involved by CVT than in patent ones (62.4 ± 10 versus 55.6 ± 6 HU, p < 0.0001). ROC analysis showed that a cutoff value of 63 HU enables to detect patients with CVT with 52% sensitivity and 88% specificity. Hematocrit values were significantly correlated with patent sinus segments attenuation (r = 0.19). CONCLUSIONS: The presence of sinus hyperdensity at NECT enables to detect patients with CVT with 81% sensitivity and 77% specificity. A sinus attenuation cutoff value of 63 HU can be used in order to increase specificity, but lowering sensitivity.

Primary familial brain calcification in the 'IBGC2' kindred: All linkage roads lead to SLC20A2.

BACKGROUND: Linkage analyses of families with primary familial brain calcification (formerly idiopathic basal ganglia calcification [IBGC]) identified 3 candidate loci (IBGC1-3). Recently, SLC20A2 mutations were found in the IBGC1 and IBGC3 families, merging these 2 loci. We here elucidate the genetic cause of primary familial brain calcification in the 'IBGC2' kindred. METHODS: We sequenced known primary familial brain calcification genes and quantified SLC20A2 and PDGFB. Moreover, CT scans of affected and unaffected family members were evaluated by 2 blinded neuroradiologists for distribution of brain calcification. RESULTS: A heterozygous multiexonic SLC20A2 deletion was detected in several affected family members. A reevaluation of neuroimaging data revealed a subset of mutation-negative individuals with only mild and/or unilateral calcification. CONCLUSIONS: The identified SLC20A2 mutation resolves the genetic cause of primary familial brain calcification in the 'IBGC2' kindred, collapsing 'IBGC2' into IBGC1. We suggest an algorithm for predicting the chances of finding genetic mutations that has to be validated in further studies. Our study enhances criteria for the evaluation of neuroimaging data, contributing further to the much needed harmonization of diagnostic and research data collection in primary familial brain calcification. © 2016 International Parkinson and Movement Disorder Society.

MRI for local staging of endometrial carcinoma: Is endovenous contrast medium administration still needed?

PURPOSE: To compare the diagnostic performance of T2-weighted images (T2-WI)+contrast-enhanced T1-weighted images (CE T1-WI) with the one of T2-WI+diffusion-weighted images (DWI) in the assessment of myometrial and cervical stromal infiltration by endometrial carcinoma (EC). MATERIALS AND METHODS: Institutional review board approved our retrospective study; requirement for informed consent was waived. 56 patients with histologically proven EC who underwent preoperative MRI and surgery at our Institution over a 34 months period were included. Two radiologists independently evaluated T2-WI+CE T1-WI and T2-WI+DWI of each patient. Confidence in imaging evaluation (0-3), depth of myometrial invasion (0.05) whereas both imaging sequences combinations showed the same diagnostic performance in recognizing cervical stromal infiltration (accuracy, sensitivity and specificity of 0.95, 0.98 and 0.80, p>0.05). CONCLUSION: T2-WI+DWI can reliably replace the "classical" combination T2-WI+CE T1-WI for local staging of endometrial carcinoma.

2q37 as a susceptibility locus for idiopathic basal ganglia calcification (IBGC) in a large South Tyrolean family.

Familial idiopathic basal ganglia calcification (FIBGC) is an inherited neurodegenerative disorder characterized by the accumulation of calcium deposits in different brain regions, particularly in the basal ganglia. FIBGC usually follows an autosomal dominant pattern of inheritance. Despite the mapping to chromosome 14q of a susceptibility locus for IBGC (IBCG1) in one family, this locus has been excluded in several others, demonstrating genetic heterogeneity in this disorder. The etiology of this disorder thus remains largely unknown. Using a large extended multigenerational Italian family from South Tyrol with 17 affected in a total of 56 members, we performed a genome-wide linkage analysis in which we were able to exclude linkage to the IBCG1 locus on chromosome 14q and obtain evidence of a novel locus on chromosome 2q37. Electronic supplementary material. The online version of this article (doi:10.1007/s12031-009-9287-3) contains supplementary material, which is available to authorized users.

Exclusion of linkage to chromosome 14q in a large South Tyrolean family with Idiopathic Basal Ganglia Calcification (IBGC).

Familial Idiopathic Basal Ganglia Calcification (FIBGC) is a neurodegenerative syndrome that usually follows an autosomal dominant pattern of inheritance. Linkage to only one locus on chromosome 14q (IBCG1) has been described so far. We identified and characterized a large multigenerational Italian family from a population isolate with 14 FIBGC affected members. Linkage analysis excluded the IBCG1 locus, thus demonstrating further locus heterogeneity for this disease.