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.     

Ultrasonic measurement of the effects of light irradiation and presence of water on the polymerization of self‐adhesive resin cement

Self‐adhesive resin cements are useful in restorations because they reduce the number of clinical steps involved in the restoration process. This study evaluated, using ultrasonic measurements, the influence of light irradiation and the presence of water on the polymerization behavior and elastic modulus of a self‐adhesive resin cement. A self‐adhesive resin cement (RelyX Unicem 2 Automix) or a resin cement (RelyX ARC) was inserted into a transparent mold on a sample stage, and the presence of water and effect of light‐irradiation were evaluated. The transit time of a sonic wave through the cement disk was divided by the specimen thickness to obtain the sonic velocity, and longitudinal and shear waves were used to determine the elastic modulus. When the resin cements were light‐irradiated, the sonic velocity rapidly increased and plateaued at 2,500–2,700 m s^?1. When the cements were not irradiated, the rates of increase in the sonic velocity were reduced. When water was applied to the sample stage, the sonic velocity was reduced. The elastic modulus values of the specimens ranged from 9.9 to 15.9 GPa after 24 h. The polymerization behavior of self‐adhesive resin cements is affected by the polymerization mode and the presence of water.     

Oncolytic Virus Therapy with HSV-1 for Hematological Malignancies

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