Filaggrin and Medical Eponyms

Moness Country Club, Aberfeldy

Had a great weekend away over Easter with the family staying up in Aberfeldy for the JK orienteering held over the Saturday and Sunday. Finished 10th on my course but still took over 2 hours both days so lots of space for improvement!

In 2008 for my BMSc in Genetics I carried out some research on the role of genes coding for skin barrier protiens, specifically the keratins. At the time the lab was involved in some break-through research regarding the role of the protein, filaggrin. It is now estimated that as many as one in ten European people have a mutation in the filaggrin gene which results in a dysfunctional skin barrier. This can manifest itself as painful skin fissures in the heels, lips and ears. It is recommended that moisturisers are applied liberously during times of low humidity (such as winter), to help maintain skin hydration. The results of this recent study are summaries in the BMJ this week in the 'Minerva' section.

Medical eponyms are commonplace in medical school or clinical examinations but rarely heard in everyday clinical practice. Des Spence (Glasgow GP who writes a weekly column in the BMJ) visits this topic this week. He argues a time may have come to evaluate the evidence of the usefulness of clinical eponyms and to move on that the 'classic' medical examination taught systematically to all medical students. Of course, all students must learn how to examine patients effectively - this is a key skill for every new doctor, but is it time we updated the clinical examination. Could the increasing use and availabilty of bedside imaging (eg. portable ultrasound) be used to improve clinical practice? Dr Spence thinks we should teach all medical students how to ultrasound patients. Imagine a world with portable ultrasounds in A&E to examine the abdomens of surgical patients, or in the coronary care unit to examine the heart function of new cardiology patients? So much time could be saved! Which would be more sensitive at picking up a physical sign eg. hepatomegaly - the scanner, or the doctor's palm, or both combined?

 

Craig a Barns - JK Day 3