• A Genetic Cause of Chronic Intestinal Pseudo-obstruction

A Genetic Cause of Chronic Intestinal Pseudo-obstruction

An inherited form of chronic intestinal pseudo-obstruction (CIPO) is caused by mutations in a transcription factor that disrupt the structure and function of enteric innervation, researchers report in the April issue of Gastroenterology. Elena Bonora et al show that patients with CIPO carry mutations in RAD21 that disrupt the ability of its

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  • Leptin Mutation Causes Early-Onset Extreme Obesity

Leptin Mutation Causes Early-Onset Extreme Obesity

A mutation in the gene encoding the appetite-controlling hormone leptin (LEP) found to cause extreme obesity in a young child, researchers report. Martin Wabitsch et al describe insatiable appetite and early-onset extreme obesity in a 2-year old caused by a homozygous transversion in LEP.  The boy had a high serum

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New Programs Track Off-Label Use of Targeted Cancer Drugs

Two programs are underway to track off-label use of targeted cancer drugs and patient outcomes, as well as facilitate patient access to these agents. According to Nature News, more than 60% of US prescriptions for cancer drugs are for off-label use—often because patients have a tumor with a feature or

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What Causes Familial Visceral Myopathy?

A heterozygous variant in enteric smooth muscle actin γ-2 (ACTG2) can cause familial visceral myopathy (FVM), according to the December issue of Gastroenterology. The altered gene product appears to aggregate, rather than form actin filaments, in intestinal smooth muscle cells, disrupting their contraction and reducing bowel motility. FVM is a rare

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