Functional analysis of germline VANGL2 variants using rescue assays of vangl2 knockout zebrafish.

Developmental studies have shown that the evolutionarily conserved Wnt Planar Cell Polarity (PCP) pathway is essential for the development of a diverse range of tissues and organs including the brain, spinal cord, heart and sensory organs, as well as establishment of the left-right body axis. Germline mutations in the highly conserved PCP gene VANGL2 in humans have only been associated with central nervous system malformations, and functional testing to understand variant impact has not been performed. Here we report three new families with missense variants in VANGL2 associated with heterotaxy and congenital heart disease p.

Laparoscopic repair of left paraduodenal hernia.

Paraduodenal hernia is an uncommon cause of acute abdominal pain; however, it is the commonest of internal herniation. Computer tomography of the abdomen is diagnostic. Although it is a rare cause of intestinal obstruction, it is estimated that more than half of paraduodenal hernias develop symptoms.