Prosthetic Valve Endocarditis After Y-Incision Aortic Annular Enlargement: A Simple Solution.

The Y-incision aortic annular enlargement (AAE) has been established as a safe and effective technique for upsizing the aortic annulus by 3 to 4 valve sizes. However, concerns have been raised regarding its technical complexity during reoperations, particularly given the extensive enlargement of the aortic annulus and root. We present a case of reoperative aortic valve replacement after previous Y-incision AAE for prosthetic valve endocarditis and aortic root abscess.

Loss of the mitochondrial protein mitoNEET in mice is associated with cognitive impairments and increased neuroinflammation.

Background: Mitochondrial dysfunction is implicated in several neurodegenerative diseases associated with memory and cognitive deficits, including Alzheimer's disease. Changes in bioenergetic function results in reactive oxygen species, oxidative damage and consequently neuroinflammation, which contributes to neuronal cell loss.

Objective: In this study, we evaluated the impact of the loss of the redox active [2Fe-2S] mitochondrial-associated protein mitoNEET (CISD1) on neuroinflammation and cognition using an age-appropriate preclinical model.

MGA-related syndrome: A proposed novel disorder.

MGA (OMIM: 616061) encodes a dual-specificity transcription factor that regulates the expression of Max-network and T-box family target genes, important in embryogenesis. Previous studies have linked MGA to various phenotypes, including neurodevelopmental disorders, congenital heart disease, and early-onset Parkinson's disease. Here, we describe the clinical phenotype of individuals with de novo, heterozygous predicted loss-of-function variants in MGA, suggesting a unique disorder involving both neurodevelopmental and congenital anomalies.

Brain malformations and seizures by impaired chaperonin function of TRiC.

Malformations of the brain are common and vary in severity, from negligible to potentially fatal. Their causes have not been fully elucidated. Here, we report pathogenic variants in the core protein-folding machinery TRiC/CCT in individuals with brain malformations, intellectual disability, and seizures.