Human Genetics of Atrioventricular Septal Defect.

Atrioventricular septal defects (AVSD), also known as a common atrioventricular canal (CAVC), are clinically severe heart malformations that affect about 1 out of every 2100 live births. AVSD makes up about 5% of all congenital heart defects. AVSD is associated with cytogenetic disorders such as Down syndrome and numerous other rare genetic syndromes, but also occurs as a simplex trait.

Light-Responsive Hydrogel Microcrawlers, Powered and Steered with Spatially Homogeneous Illumination.

Sub-millimeter untethered locomoting robots hold promise to radically change multiple areas of human activity such as microfabrication/assembly or health care. To overcome the associated hurdles of such a degree of robot miniaturization, radically new approaches are being adopted, often relying on soft actuating polymeric materials. Here, we present light-driven, crawling microrobots that locomote by a single degree of freedom actuation of their light-responsive tail section.

A New Class of Single-Material, Non-Reciprocal Microactuators.

A crucial component in designing soft actuating structures with controllable shape changes is programming internal, mismatching stresses. In this work, a new paradigm for achieving anisotropic dynamics between isotropic end-states-yielding a non-reciprocal shrinking/swelling response over a full actuation cycle-in a microscale actuator made of a single material, purely through microscale design is demonstrated. Anisotropic dynamics is achieved by incorporating micro-sized pores into certain segments of the structures; by arranging porous and non-porous segments (specifically, struts) into a 2D hexagonally-shaped microscopic poly(N-isopropyl acrylamide) hydrogel particle, the rate of isotropic shrinking/swelling in the structure is locally modulated, generating global anisotropic, non-reciprocal, dynamics.

Identification of novel rare copy number variants associated with sporadic tetralogy of Fallot and clinical implications.

Tetralogy of Fallot (TOF) is the most common cyanotic congenital heart disease. Highly penetrant copy number variants (CNVs) and genes related to the etiology of TOF likely exist with differences among populations. We aimed to identify CNV contributions to sporadic TOF cases in Han Chinese.