Calcification in Salivary Gland Cancer Mimicking Sialolithiasis—A Diagnostic Pitfall on Imaging: Report of Two Cases and Brief Review of the Literature

Objectives: Sialolithiasis is the most common cause of calcifications detected with ultrasound in patients with chronic inflammatory symptoms and swellings of the salivary glands. Other differential diagnoses of calcifications are extremely rare and mostly benign. Methods: Case report and literature review. Results: Two rare cases of malignant parotid gland tumors with calcifications in a localization typical for sialolithiasis, which were mistaken for salivary calculi based on image findings, are presented. Conclusions: This report intends to highlight the pitfalls in the imaging of parotid gland diseases. Even if malignant tumors of the parotid gland with calcifications are extremely rare, in ambiguous cases, differential diagnoses should be considered carefully. A high suspicion index of the need for further diagnostics in cases with calcifications is practical and could include missing periprandial symptoms, no obstruction signs in the proximal duct, and missing evidence of sialolithiasis in sialendoscopy

BRCA1 mislocalization leads to aberrant DNA damage response in heterozygous ABRAXAS1 mutation carrier cells

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3D Dixon water-fat LGE imaging with image navigator and compressed sensing in cardiac MRI

Objectives To evaluate an image-navigated isotropic high-resolution 3D late gadolinium enhancement (LGE) prototype sequence with compressed sensing and Dixon water-fat separation in a clinical routine setting. Material and methods Forty consecutive patients scheduled for cardiac MRI were enrolled prospectively and examined with 1.5 T MRI. Overall subjective image quality, LGE pattern and extent, diagnostic confidence for detection of LGE, and scan time were evaluated and compared to standard 2D LGE imaging. Robustness of Dixon fat suppression was evaluated for 3D Dixon LGE imaging. For statistical analysis, the non-parametric Wilcoxon rank sum test was performed. Results LGE was rated as ischemic in 9 patients and non-ischemic in 11 patients while it was absent in 20 patients. Image quality and diagnostic confidence were comparable between both techniques (p = 0.67 and p = 0.66, respectively). LGE extent with respect to segmental or transmural myocardial enhancement was identical between 2D and 3D (water-only and in-phase). LGE size was comparable (3D 8.4 ± 7.2 g, 2D 8.7 ± 7.3 g, p = 0.19). Good or excellent fat suppression was achieved in 93% of the 3D LGE datasets. In 6 patients with pericarditis, the 3D sequence with Dixon fat suppression allowed for a better detection of pericardial LGE. Scan duration was significantly longer for 3D imaging (2D median 9:32 min vs. 3D median 10:46 min, p = 0.001). Conclusion The 3D LGE sequence provides comparable LGE detection compared to 2D imaging and seems to be superior in evaluating the extent of pericardial involvement in patients suspected with pericarditis due to the robust Dixon fat suppression. Key Points • Three-dimensional LGE imaging provides high-resolution detection of myocardial scarring. • Robust Dixon water-fat separation aids in the assessment of pericardial disease. • The 2D image navigator technique enables 100% respiratory scan efficacy and permits predictable scan times

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification

The multifactorial likelihood analysis method has demonstrated utility for quantitative assessment of variant pathogenicity for multiple cancer syndrome genes. Independent data types currently incorporated in the model for assessing BRCA1 and BRCA2 variants include clinically calibrated prior probability of pathogenicity based on variant location and bioinformatic prediction of variant effect, co-segregation, family cancer history profile, co-occurrence with a pathogenic variant in the same gene, breast tumor pathology, and case-control information. Research and clinical data for multifactorial likelihood analysis were collated for 1,395 BRCA1/2 predominantly intronic and missense variants, enabling classification based on posterior probability of pathogenicity for 734 variants: 447 variants were classified as (likely) benign, and 94 as (likely) pathogenic; and 248 classifications were new or considerably altered relative to ClinVar submissions. Classifications were compared with information not yet included in the likelihood model, and evidence strengths aligned to those recommended for ACMG/AMP classification codes. Altered mRNA splicing or function relative to known nonpathogenic variant controls were moderately to strongly predictive of variant pathogenicity. Variant absence in population datasets provided supporting evidence for variant pathogenicity. These findings have direct relevance for BRCA1 and BRCA2 variant evaluation, and justify the need for gene-specific calibration of evidence types used for variant classification

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification

Abstract The multifactorial likelihood analysis method has demonstrated utility for quantitative assessment of variant pathogenicity for multiple cancer syndrome genes. Independent data types currently incorporated in the model for assessing BRCA1 and BRCA2 variants include clinically calibrated prior probability of pathogenicity based on variant location and bioinformatic prediction of variant effect, co-segregation, family cancer history profile, co-occurrence with a pathogenic variant in the same gene, breast tumor pathology, and case-control information. Research and clinical data for multifactorial likelihood analysis were collated for 1395 BRCA1/2 predominantly intronic and missense variants, enabling classification based on posterior probability of pathogenicity for 734 variants: 447 variants were classified as (likely) benign, and 94 as (likely) pathogenic; 248 classifications were new or considerably altered relative to ClinVar submissions. Classifications were compared to information not yet included in the likelihood model, and evidence strengths aligned to those recommended for ACMG/AMP classification codes. Altered mRNA splicing or function relative to known non-pathogenic variant controls were moderately to strongly predictive of variant pathogenicity. Variant absence in population datasets provided supporting evidence for variant pathogenicity. These findings have direct relevance for BRCA1 and BRCA2 variant evaluation, and justify the need for gene-specific calibration of evidence types used for variant classification. This article is protected by copyright. All rights reserved.Peer reviewe

COVID-19 an Kölner Schulen: Eine differenzierte Übersicht der Schulentscheidungen im Gesundheitsamt der Stadt Köln bis zum Ende des Schuljahres 2019/2020

Im Epidemiologischen Bulletin 42/2020 werden die Herausforderungen, der Umgang und die Erfahrungen des Gesundheitsamts Kölns zwischen März und Juli 2020 im Umgang mit Schulen während der COVID-19-Pandemie vorgestellt. Die Autoren sehen zum jetzigen Zeitpunkt im Bereich der Schulen die differenzierte Einzelfallbearbeitung als ein hinreichend sicheres und angemessenes Instrument an. Ob bei kompletter Öffnung der Schulen, im Falle ansteigender Fallzahlen nach Ferienende, die personelle Ausstattung der Gesundheitsämter dieses Vorgehen ermöglichen kann, ist aus Perspektive der Autoren fraglich. Sie plädieren aber für den bestmöglichen Erhalt des Schulbetriebs, um möglichst vielen Schüler*innen eine angemessene Förderung zu bieten und die Bildungsgerechtigkeit zu erhalten

3D Dixon water-fat LGE imaging with image navigator and compressed sensing in cardiac MRI

Objectives!#!To evaluate an image-navigated isotropic high-resolution 3D late gadolinium enhancement (LGE) prototype sequence with compressed sensing and Dixon water-fat separation in a clinical routine setting.!##!Material and methods!#!Forty consecutive patients scheduled for cardiac MRI were enrolled prospectively and examined with 1.5 T MRI. Overall subjective image quality, LGE pattern and extent, diagnostic confidence for detection of LGE, and scan time were evaluated and compared to standard 2D LGE imaging. Robustness of Dixon fat suppression was evaluated for 3D Dixon LGE imaging. For statistical analysis, the non-parametric Wilcoxon rank sum test was performed.!##!Results!#!LGE was rated as ischemic in 9 patients and non-ischemic in 11 patients while it was absent in 20 patients. Image quality and diagnostic confidence were comparable between both techniques (p = 0.67 and p = 0.66, respectively). LGE extent with respect to segmental or transmural myocardial enhancement was identical between 2D and 3D (water-only and in-phase). LGE size was comparable (3D 8.4 ± 7.2 g, 2D 8.7 ± 7.3 g, p = 0.19). Good or excellent fat suppression was achieved in 93% of the 3D LGE datasets. In 6 patients with pericarditis, the 3D sequence with Dixon fat suppression allowed for a better detection of pericardial LGE. Scan duration was significantly longer for 3D imaging (2D median 9:32 min vs. 3D median 10:46 min, p = 0.001).!##!Conclusion!#!The 3D LGE sequence provides comparable LGE detection compared to 2D imaging and seems to be superior in evaluating the extent of pericardial involvement in patients suspected with pericarditis due to the robust Dixon fat suppression.!##!Key points!#!• Three-dimensional LGE imaging provides high-resolution detection of myocardial scarring. • Robust Dixon water-fat separation aids in the assessment of pericardial disease. • The 2D image navigator technique enables 100% respiratory scan efficacy and permits predictable scan times