First do no harm in responding to incidental imaging findings

You order a computed tomography pulmonary angiogram (CTPA) for a patient with suspected pulmonary thromboembolism. The radiology report states that no pulmonary thromboembolism is seen but notes an unrelated lung nodule. What should you do with this incidental finding, or “incidentaloma”

Three dimensional reconstructed MRI of an acrylic meniscal cartilage phantom: the effect of acquisition slice thickness upon accuracy of volume measurement

AUSTRALI

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7

PURPOSE: Somatic variants in tumor necrosis factor receptor-associated factor 7 (TRAF7) cause meningioma, while germline variants have recently been identified in seven patients with developmental delay and cardiac, facial, and digital anomalies. We aimed to define the clinical and mutational spectrum associated with TRAF7 germline variants in a large series of patients, and to determine the molecular effects of the variants through transcriptomic analysis of patient fibroblasts. METHODS: We performed exome, targeted capture, and Sanger sequencing of patients with undiagnosed developmental disorders, in multiple independent diagnostic or research centers. Phenotypic and mutational comparisons were facilitated through data exchange platforms. Whole-transcriptome sequencing was performed on RNA from patient- and control-derived fibroblasts. RESULTS: We identified heterozygous missense variants in TRAF7 as the cause of a developmental delay-malformation syndrome in 45 patients. Major features include a recognizable facial gestalt (characterized in particular by blepharophimosis), short neck, pectus carinatum, digital deviations, and patent ductus arteriosus. Almost all variants occur in the WD40 repeats and most are recurrent. Several differentially expressed genes were identified in patient fibroblasts. CONCLUSION: We provide the first large-scale analysis of the clinical and mutational spectrum associated with the TRAF7 developmental syndrome, and we shed light on its molecular etiology through transcriptome studies

Monitoring of muscle, tendon and ligament repair

Heidelberg, German

The influence of slice thickness on the volume measurement accuracy of 3-D MR reconstructions of acrylic phantoms: A precursor to knee imaging

LONDO

Advanced magnetic resonance-based computational modelling in medicine: technology contributing to improved clinical outcomes

Netherland