A systems genetics approach identifies roles for proteasome factors in heart development and congenital heart defects.

Congenital heart defects (CHDs) occur in about 1% of live births and are the leading cause of infant death due to birth defects. While there have been remarkable efforts to pursue large-scale whole-exome and genome sequencing studies on CHD patient cohorts, it is estimated that these approaches have thus far accounted for only about 50% of the genetic contribution to CHDs. We sought to take a new approach to identify genetic causes of CHDs.

Bent Intramedullary Metacarpal Implants.

Background: Metacarpal fractures are common injuries that can lead to debilitating outcomes if not treated appropriately. Intramedullary fixation has gained popularity as a treatment option, allowing for earlier mobilization with few reported complications.

Methods: A retrospective chart review of all patients treated with intramedullary implants for a metacarpal fracture between August 2018 and February 2024 at a single center was performed.

A Theoretical Mechanistic Study of the Asymmetric Desymmetrization of a Cyclic meso-Anhydride by a Bifunctional Quinine Sulfonamide Organocatalyst.

Cinchona alkaloids and their derivatives are widely used as organocatalysts in asymmetric synthesis. In particular, sulfonamide derivatives of cinchona alkaloids are highly enantioselective desymmetrization catalysts in the ring opening of a variety of cyclic anhydrides. To better understand the mechanism of catalysis, as well as to identify the basis for enantioselectivity by this catalyst, we have performed DFT calculations of this reaction with a cyclic meso anhydride.

RNA-Seq transcriptome profiling identifies CRISPLD2 as a glucocorticoid responsive gene that modulates cytokine function in airway smooth muscle cells.

Asthma is a chronic inflammatory respiratory disease that affects over 300 million people worldwide. Glucocorticoids are a mainstay therapy for asthma because they exert anti-inflammatory effects in multiple lung tissues, including the airway smooth muscle (ASM). However, the mechanism by which glucocorticoids suppress inflammation in ASM remains poorly understood.