Diseases in three words


cycotropics:

Don’t do steroids kids.

Steroid abuse can be tough to pick up because of the newer forms made to avoid detection. Generally, though, in three words:

  1. Erythrocytosis, that is, a lot of red cells (high hematocrit)
  2. Acne, voice deepening and male pattern baldness
  3. Small testicular size (plus low sperm count)

Acute Tubular Necrosis (ATN)

mynotes4usmle:

image

2 main causes:

Ischemic ATN: anything that decreases blood flow

  • severe hemorrage
  • severe renal VC
  • hTN
  • dehydration
  • shock

Nephrotxic ATN

  • Drugs (methicillin, sulfonamides, gentamicin, polymyxin)
  • Radiografic contrasts
  • Mushroom poisoning (Amanita phalloid)
  • Organic solvents (carbon tetrachloride, 
  • Antifreezer
  • Myoglobin
  • Phenol 
  • Pesticides
  • Heavy metals (gold, lead, Hg)

Clinical Features

  • MOST COMMON CAUSE OF ARF IN THE USA
  • Oliguria
  • Azotemia
  • Metabolic Acidosis
  • Hyperkalemia
  • Brown granular & epithelilal casts

image

Three stages:

  1. Initiation: ischemic injury (precipitated by MI, sepsis, bleeding, etc)
  2. Maintenance: Oliguria, high creat/BUN, HYPERkalemia
  3. Recovery: High urine output, low Mg & Ca, HYPOkalemia
Via My Notes for USMLE

Phosphoglycerate kinase; catalyzes a reversible reaction common for both glycolysis and gluconeogenesis. Great exam question …



Krabbe disease, in three words (two of them very well depicted in this excellent video):

  1. Psychomotor regression. First signs invariably a remarkable regression in the capacity for movement.
  2. Blindness and deafness. 
  3. Galactosylceramidase (or galactocerebrosidase). A mouthfull, no doubt. That’s the enzyme deficiency. The enzyme normally removes galactose from a family of waxy lipid molecules called ceramides, a huge component of cell membranes. The mutation causes a build-up of unmetabolized lipids, that ultimately affects the growth of the nerve’s protective myelin = globoid cell-leukodystrophy.

Two major groups that fund research and awareness are The Myelin Project and The Stennis Foundation.


Via ℒoser


mynotes4usmle:

Collagen Synthesis

  • Reduced hydroxylation of proline and lysine due to Vit C deficiency  => SCURVY
  • Gene mutations of collagen (usually type I & III) and lysine hydroxilase => EHLERS DANLOS
  • Gene mutations of gene ATP7A results in Copper deficiency, reducing the activity of lysil oxidase => MENKES DISEASE (or Copper transport disease, or Kinky Hair Disease

Excelente resumen …


Via My Notes for USMLE

There it is, a fusion of two genes called “Philadelphia Chromosome”. In three words:
t(9;22). A translocation that results in the head-to-tail fusion of the BCR and ABL1 genes.
CML. The mutation causes Chronic Myelogenous Leukemia.
Tyrosine Kinase. Both the BCR and the ABL proteins are tyrosine kinases. The new fusion protein ends up being … a … yes, tyrosine kinase. The new protein leads to the unregulated clonal proliferation of myeloid (WBC) cells.

There it is, a fusion of two genes called “Philadelphia Chromosome”. In three words:

  1. t(9;22). A translocation that results in the head-to-tail fusion of the BCR and ABL1 genes.
  2. CML. The mutation causes Chronic Myelogenous Leukemia.
  3. Tyrosine Kinase. Both the BCR and the ABL proteins are tyrosine kinases. The new fusion protein ends up being … a … yes, tyrosine kinase. The new protein leads to the unregulated clonal proliferation of myeloid (WBC) cells.

Hurler’s Syndrome, in three words:
Multiorgan failure, including hepatosplenomegally.
L-irudonidase. The enzyme deficiency.
Coarse facial features, corneal clouding and skeletal deformities. Distinguish from Sanfilippo’s and I-cell disease.
Photo from http://www.health-reply.com/Mucopolysaccharide-deposition/

Hurler’s Syndrome, in three words:

  1. Multiorgan failure, including hepatosplenomegally.
  2. L-irudonidase. The enzyme deficiency.
  3. Coarse facial features, corneal clouding and skeletal deformities. Distinguish from Sanfilippo’s and I-cell disease.

Photo from http://www.health-reply.com/Mucopolysaccharide-deposition/


I-Cell disease. In three words:
Fibroblasts. Very common to find the presence of inclusion bodies in fibroblasts (high yield buzz-word)
Mannose-6-phosphate. Before going to the lysosome, enzymes must be tagged by M6P, I-cell disease will not = large inclusions from molecules that should’ve been degraded by the lysosome and are just sitting there … forever waiting.
Coarse facial features. Another buzz-word, add to that joint pain and psychomotor retardation in a young child.
Image from http://usmle-az.com/AZ/i-cell-disease-mucolipidosis-ii/
NOTE: Distinguish from Hurler’s Sx, which also has coarse facial features and corneal clouding along with bone problems.

I-Cell disease. In three words:

  1. Fibroblasts. Very common to find the presence of inclusion bodies in fibroblasts (high yield buzz-word)
  2. Mannose-6-phosphate. Before going to the lysosome, enzymes must be tagged by M6P, I-cell disease will not = large inclusions from molecules that should’ve been degraded by the lysosome and are just sitting there … forever waiting.
  3. Coarse facial features. Another buzz-word, add to that joint pain and psychomotor retardation in a young child.

Image from http://usmle-az.com/AZ/i-cell-disease-mucolipidosis-ii/

NOTE: Distinguish from Hurler’s Sx, which also has coarse facial features and corneal clouding along with bone problems.



Familial dysbetalipoproteinemia, which is type III hyperlipoproteinemia). You feel real inteligent saying these words. The key of this for this inherited disease is apoE (image from Nature Reviews Neuroscience 1, 51-58 (October 2000)); in three words:

  1. Genetic variant of apoE
  2. High levels of circulating “beta”VLDL (rich in cholesterol from intestinal chylomicrons and hepatic VLDL)
  3. Xanthomas. Sure, there will be high triglycerides and cholesterol, but look also for the fatty eruptions in the skin


breaking-muscle:

Understanding Sickle Cell Trait and Precautions For Training Athletes

Sickle cell trait kills athletes every year. As a coach you need to understand what it is, how to prevent it, and in case of emergency, how to treat it and save the life of your athlete.

Sickle cell anemia, three unforgettable words:

  1. Autosomal recessive, important for parenting counceling
  2. Single nucleotide substitution (codon 6, if you really need to know) of beta chain.
  3. Diagnosis: PCR followed by ASO hybridization. Southernblot can be used as well which picks up a much larger DNA segment than it should

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