A kinetic model for compound heterozygous pathogenic variants in Tyrosyl-tRNA synthetase gene YARS2-Associated neonatal phenotype.

Human genetic disorders are often caused by mutations of compound heterozygosity, where each allele of the mutant gene harbors a different genetic lesion. However, studies of such mutations are hampered due to the lack of an appropriate model. Here we describe a kinetic model of compound heterozygous variants in an obligate enzyme dimer that contains one mutation in one monomer and the other mutation in the second monomer.

Serum integrin accumulation during asthma exacerbation: The role of matrix metalloproteinases.

The inflammation caused by asthma exacerbation can lead to permanent changes in the airways and loss of lung function. Integrins are membrane receptors that interact with components of the extracellular matrix and cell adhesion molecules. It is known that these receptors can be found in soluble form in some conditions such as asthma, but it is unknown if exacerbation during asthma leads to soluble integrins.

Heart lung axis in acute pulmonary embolism: Role of CT in risk stratification.

Pulmonary embolism (PE) remains a significant cause of mortality requiring prompt diagnosis and risk stratification. This review focuses on the role of computed tomography (CT) in the risk stratification of acute PE, highlighting its impact on patient management. We will explore basic pathophysiology of pulmonary embolism (PE) and review current guidelines, which will help radiologists interpret images within a broader clinical context.