Sunday, May 27, 2012

B-cell lymphoma genetic links

Genetics of lymphomas - translocations cause overexpression of the following genes which cause the disease:
  • myc - Burkitts + B & T-cell lymphomas
  • bcl2 = follicular B-cell lymphoma
  • bcl3 = chronic B-cell lymphoma
  • bcl6 = diffuse  B-cell lymphoma
  • any other genes = acute T-cell lymphoma
So you can use this mirror image to remember the bcl genes:

Friday, May 25, 2012

Kartagener's Syndrome

Here's another eponymous syndrome named Kartagener's (German physician, 1933)*. It's a triad of features:
  • Dextrocardia or Situs inversus
  • Brochiectasis
  • Recurrant sinusitis
It's more scientifically known as primary ciliary dyskinesia - meaning cilia in the body don't beat properly. This is a problem during development where you need correctly beating cilia to put your organs in the right place (the cilia cause little waves of growth factor to swoosh around). If they beat the wrong way you get situs inversus or dextrocardia. If they don't beat at all it's situs ambiguus and organs end up in random places.

Here's my random picture for remembering this syndrome:

 
This heart (dextrocardia) in a cart (Kartageners) was traveling past a wrong way sign (..a..situs...sinusitis) and crashed into a tree (broken tree = broken bronchial tree = bronchiectasis).


* Kartagener M (1933). "Zur Pathogenese der Bronchiektasien: Bronchiektasien bei Situs viscerum inversus". Beiträge zur Klinik der Tuberkulose. 83 (4): 489–501.
* also... Situs Solitus is the normal positioning of organs in the body.

Thursday, May 24, 2012

Cerebral Toxoplasmosis

Disease of the immunocompromised. Acute onset focal neurological deficit, usually hemispherical (hemiparesis, visual field disturbance). Can be accompanied by fever. Imaging shows characteristic ring-enhancing lesions:

Monday, May 21, 2012

Guillain-Barre Syndrome

Another eponymous syndrome named by a French physician at the turn of the century.
  • It is an acute, inflammatory, post-infectious, ascending polyneuropathy (2:100,000).
  • Caused by (??): post viral (often: Campylobacter jejuni or CMV) cell mediated response against peripheral gangliosides. 
  • Polyneuropathy begins peripherally and progresses centrally - if it reaches respiratory/bulbar areas this is bad.
  • Often causes autonomic dysfunction (sweating, tachycardia, dysrhthmias)
  • CSF shows lots of protein  (>5.5g/L)
  • Develops over around 4 weeks.
  • Most important investigation: spirometry
So to remember these random facts I think of this knight character: Sir Guillain-Barre...
 * boot camp - to reflect that neuropathy often begins in feet (boot) and most commonly caused by CAMPylobacter Jejuni.
** also note pronounciation - gwee-awn barr-ay (in your best french accent)

Sunday, May 20, 2012

Pleural Effusions

Pleural effusions can be exudative (>30g/L protein) or transudative (<30g/L protein). Things that commonly cause effusions of each type are:
Also light's criteria - if any of the following are true then = exudative:
  • Pleural/Serum protein ratio > 0.5
  • Pleural/Serum LDH ratio > 0.5
  • Pleural fluid LDH > 2/3 of serum LDH level.