Identification of a Novel Titin Variant Underlying Myocardial Involvement in Neurofibromatosis Type 1

Because of the rare co-occurrence, it remains a question whether cardiomyopathy is a true association of neurofibromatosis type 1. A boy with café-au-lait spots manifested restrictive cardiomyopathy. Whole exome sequencing confirmed the genetic diagnosis of neurofibromatosis and further identified a novel titin (TTN) missense variant. The significance of the variant is supported by its de novo origin, in silico predictions, and evolutionary conservation. Modern genetics raises an intriguing explanation for the unexpected phenotype and adds to the evolving role of TTN variants in cardiomyopathy.     

Oncolytic Virus Therapy with HSV-1 for Hematological Malignancies

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Changes in wall shear stress magnitude after aneurysm rupture

Computational fluid dynamics (CFD) studies on cerebral aneurysms have attempted to identify surrogate hemodynamic parameters to predict rupture risk. We present a case of bilateral mirror image aneurysms, one of which ruptured soon after imaging. Wall shear stress values of the ruptured aneurysm changed by 20–30 % after rupture because of change in the aneurysm shape. Findings from our case suggest that CFD studies comparing unruptured and ruptured aneurysms may not yield valid estimation on aneurysm rupture risk because of changes in aneurysm shape after rupture. Changes in aneurysm shape after rupture should be considered in CFD research.