Clinical

 Oxytocin is a hormone that has a number of important functions.  It gets thing rolling in childbirth – sending moms into labor, but also helping set the stage for the bonding that will occur in the newborn period.

Dr. Shawn McCandless and the Committee on Genetics at the American Academy of Pediatrics have just published "Clinical Report: Health Supervision for Children with Prader-Willi Syndrome" in the Journal of Pediatrics.  The article is available for download (free!) here: [McCandless, 2010].

There has been much talk about the coming of “personalized medicine”, which has been made possible by the sequencing of the human genome as well as more recent studies characterizing millions of common genetic variants (known as “SNPs” in genetics lingo) and associating those variants with simple and complex diseases and disorders.  One example of how personalized medicine might be used is provided in the December issue of the journal “Spine” (also described in an msnbc story here).  T

Individuals with PWS are, in many ways, perfect subjects for studying the effectiveness of candidate obesity drugs.

One of the most troubling features of PWS is the high risk of mental illness in adults with the syndrome. Although a considerable amount has been written on obsessive-compulsive traits, stubbornness and maladaptive behaviors associated with PWS, less is known about the incidence and course of mental illness.

There's a new paper out in a top journal, Science, on what is may be the first understanding of the underlying molecular basis of features of PWS - The snoRNA HBII-52 regulates alternative splicing of the serotonin receptor 2C -- I've put the link at the end of the message. Here's the lowdown:

In this paper, the authors looked at cardiovascular structure/function in adults with PWS compared to adults with simple obesity. They were interested in better defining whether/why adults with PWS have detectable and/or different heart problems.