Objective: To evaluate the long-term ipsi- and contralateral hearing of patients with a unilateral enlarged vestibular aqueduct (EVA). Study design: Multicenter retrospective cohort study. Setting:... Show moreObjective: To evaluate the long-term ipsi- and contralateral hearing of patients with a unilateral enlarged vestibular aqueduct (EVA). Study design: Multicenter retrospective cohort study. Setting: Three tertiary otology and audiology referral centers. Patients and diagnostic interventions: A total of 34 children with a unilateral enlarged vestibular aqueduct as identified on CT and/or MR imaging were evaluated with pure tone and speech perception audiometry. Mean outcome measures: Radiologic measurements of the vestibular aqueduct, ipsi- and contralateral hearing loss, ipsi- and contralateral hearing loss progression over time and DNA test results. Results: All patients in this cohort with unilateral EVA presented with hearing loss. Hearing loss was progressive in 38% of the ipsilateral ears. In 29% of the children, hearing loss was also found in the contralateral ear without EVA. In 90%, the contralateral hearing was stable, with a mean follow up of 4.2 years. We found a significant correlation between the severity of the hearing loss and the size of the EVA. A genetic diagnosis associated with EVA and/or SNHL was found in only 7%. Conclusion: About a third of the children with unilateral EVA are at risk of developing hearing loss in the contralateral ear. This indicates that at least in some patients with a unilateral EVA, a bilateral pathogenic process underlies the hearing loss, in contrary to what the imaging results suggest. These findings are important for counseling of EVA patients and their parents and have implications for follow up. Show less
Johnston, H.; Joachimi, B.; Norberg, P.; Hoekstra, H.; Eriksen, M.; Fortuna, M.C.; ... ; Tallada-Crespí, P. 2021
We present angular diameter distance measurements obtained by locating the baryon acoustic oscillations (BAO) scale in the distribution of galaxies selected from the first year of Dark Energy... Show moreWe present angular diameter distance measurements obtained by locating the baryon acoustic oscillations (BAO) scale in the distribution of galaxies selected from the first year of Dark Energy Survey data. We consider a sample of over 1.3 million galaxies distributed over a footprint of 1336 deg2 with 0.6 < zzphoto < 1 and a typical redshift uncertainty of 0.03(1 + zz). This sample was selected, as fully described in a companion paper, using a colour/magnitude selection that optimizes trade-offs between number density and redshift uncertainty. We investigate the BAO signal in the projected clustering using three conventions, the angular separation, the comoving transverse separation, and spherical harmonics. Further, we compare results obtained from template-based and machine-learning photometric redshift determinations. We use 1800 simulations that approximate our sample in order to produce covariance matrices and allow us to validate our distance scale measurement methodology. We measure the angular diameter distance, DA, at the effective redshift of our sample divided by the true physical scale of the BAO feature, rd. We obtain close to a 4 per cent distance measurement of DA(zzeff = 0.81)/rd = 10.75 ± 0.43. These results are consistent with the flat Λ cold dark matter concordance cosmological model supported by numerous other recent experimental results. Show less
Purpose: To determine the test characteristics of magnetic resonance (MR) angiography in the assessment of occlusion of aneurysms treated with coil placement. Materials and Methods: This was an... Show morePurpose: To determine the test characteristics of magnetic resonance (MR) angiography in the assessment of occlusion of aneurysms treated with coil placement. Materials and Methods: This was an ethics committee-approved multicenter study. Written informed consent was obtained in 311 patients with 343 aneurysms, who had been treated with coil placement and were scheduled for routine follow-up with intraarterial digital subtraction angiography (DSA). Thirty-five patients participated two or three times. Either 3.0- or 1.5-T time-of-flight (TOF) and contrast material-enhanced MR angiography were performed in addition to intraarterial DSA. Aneurysm occlusion was evaluated by independent readers at DSA and MR angiography. The test characteristics of MR angiography were assessed by using DSA as the standard. The area under the receiver operating characteristic curve (AUC) was calculated for 3.0- versus 1.5-T MR angiography and for TOF versus contrast-enhanced MR angiography, and factors associated with discrepancies between MR angiography and DSA were assessed with logistic regression. Results: Aneurysm assessments (n = 381) at DSA and MR angiography were compared. Incomplete occlusion was seen at DSA in 88 aneurysms (23%). Negative predictive value of MR angiography was 94% (95% confidence interval [ CI]: 91%, 97%), positive predictive value was 69% (95% CI: 60%, 78%), sensitivity was 82% (95% CI: 72%, 89%), and specificity was 89% (95% CI: 85%, 93%). AUCs were similar for 3.0- (0.90 [ 95% CI: 0.86, 0.94]) and 1.5-T MR (0.87 [ 95% CI: 0.78, 0.95]) and for TOF MR (0.86 [ 95% CI: 0.81, 0.91]) versus contrast-enhanced MR (0.85 [ 95% CI: 0.80, 0.91]). A small residual lumen (odds ratio, 2.1 [ 95% CI: 1.1, 4.3]) and suboptimal projection at DSA (odds ratio, 5.5 [ 95% CI: 1.5, 21.0]) were independently associated with discordance between intraarterial DSA and MR angiography. Conclusion: Documentation of good diagnostic performance of TOF MR angiography at both 1.5 and 3.0 T in the current study represents an important step toward replacing intraarterial DSA with MR angiography in the follow-up of patients with aneurysms treated with coils. (C) RSNA, 2010 Show less
OBJECTIVES: /st> The TRAF1-C5 locus has recently been identified as a genetic risk factor for rheumatoid arthritis (RA). Since genetic risk factors tend to overlap with several autoimmune... Show moreOBJECTIVES: /st> The TRAF1-C5 locus has recently been identified as a genetic risk factor for rheumatoid arthritis (RA). Since genetic risk factors tend to overlap with several autoimmune diseases, a study was undertaken to investigate whether this region is associated with type 1 diabetes (TID), celiac disease (CD), systemic sclerosis (SSc) and systemic lupus erythematosus (SLE). METHODS: /st> The most consistently associated SNP, rs10818488, was genotyped in a total of 735 patients with T1D, 1049 with CD, 367 with SSc, 746 with SLE and 3494 ethnically- and geographically-matched healthy individuals. The replication sample set consisted of 99 patients with T1D, 272 with SLE and 482 healthy individuals from Crete. RESULTS: /st> A significant association was detected between the rs10818488 A allele and T1D (OR 1.14, p=0.027) and SLE (OR 1.16, p=0.016), which was replicated in 99 patients with T1D, 272 with SLE and 482 controls from Crete (OR 1.64, p=0.002; OR 1.43, p=0.002, respectively). Joint analysis of all patients with T1D (N=961) and all patients with SLE (N=1018) compared with 3976 healthy individuals yielded an allelic common OR of 1.19 (p=0.002) and 1.22 (p=2.6x10(-4)), respectively. However, combining our dataset with the T1D sample set from the WTCCC resulted in a non-significant association (OR 1.06, p=0.087). In contrast, previously unpublished results from the SLEGEN study showed a significant association of the same allele (OR 1.19, p=0.0038) with an overall effect of 1.22 (p=1.02x10(-6)) in a total of 1577 patients with SLE and 4215 healthy individuals. CONCLUSION: /st> A significant association was found for the TRAF1-C5 locus in SLE, implying that this region lies in a pathway relevant to multiple autoimmune diseases. Show less
Objectives The TRAF1-C5 locus has recently been identified as a genetic risk factor for rheumatoid arthritis (RA). Since genetic risk factors tend to overlap with several autoimmune diseases, a... Show moreObjectives The TRAF1-C5 locus has recently been identified as a genetic risk factor for rheumatoid arthritis (RA). Since genetic risk factors tend to overlap with several autoimmune diseases, a study was undertaken to investigate whether this region is associated with 1 diabetes (TID), celiac disease (CD), systemic sclerosis (SSc) and systemic lupus erythematosus (SLE). Methods The most consistently associated SNP, rs10818488, was genotyped in a total of 735 patients with T1D, 1049 with CD, 367 with SSc, 746 with SLE and 3494 ethnically- and geographically-matched healthy individuals. The replication sample set consisted of 99 patients with T1D, 272 with SLE and 482 healthy individuals from Crete. Results A significant association was detected between the rs10818488 A allele and T1D (OR 1.14, p=0.027) and SLE (OR 1.16, p=0.016), which was replicated in 99 patients with T1D, 272 with SLE and 482 controls from Crete (OR 1.64, p=0.002; OR 1.43, p=0.002, respectively). Joint analysis of all patients with T1D (N=961) and all patients with SLE (N=1018) compared with 3976 healthy individuals yielded an allelic common OR of 1.19 (p=0.002) and 1.22 (p=2.6x10(-4)), respectively. However, combining our dataset with the T1D sample set from the WTCCC resulted in a nonsignificant association (OR 1.06, p=0.087). In contrast, previously unpublished results from the SLEGEN study showed a significant association of the same allele (OR 1.19, p=0.0038) with an overall effect of 1.22 (p=1.02x10(-6)) in a total of 1577 patients with SLE and 4215 healthy individuals. Conclusion A significant association was found for the TRAF1-C5 locus in SLE, implying that this region lies in a pathway relevant to multiple autoimmune diseases. Show less
