Medicine

Question 1

McArdle Disease

(GSD Type V)

Answer 1

• Muscle phosphorylase deficiency that adversely affects glycolytic pathway in skeletal muscles
• Known as glycogen storage disease type V

Question 2

von Gierke disease

(GSD I)

Answer 2

• glucose-6-phosphatase deficiency

Question 3

Pompe disease

(GSD type II)

Answer 3

• acid maltase deficiency

Question 4

Andersen dz

(GSD Type IV)

Answer 4

amylopectinosis

• → Glycogenosis due to an enzyme deficiency that causes abnormal glycogen to be stored in the liver, kidney, heart, muscle, and recticuloendothelial system.

Question 5

Tarui dz

(GSD Type 7)

Answer 5

• phosphofructokinase deficiency in skeletal muscles and erythrocytes

Question 6

acute anemia

symptoms

Answer 6

• MC causes are hemolysis or hemorrhage → sudden reduction in RBCs
  
  • Healthy pt can tolerate 20% of blood volume w/o sxs
  • When drop is quick, symptomatic bc body has inadequate time to compensate and replace the volume lost
• Greater losses → signs and sxs of hypovolemia
  
  • postural hypotension
  • altered mental status
  • cool and/or clammy skin
  • tachycardia
  • hyperventilation

Question 7

rheumatoid arthritis:

locations most commonly associated w/ rheumatoid arthritic changes

Answer 7

• MTPJs of the foot (Most commonly associated)
• Hips
• Knees
• Sacroiliac
• Glenohumeral
• C1 & C2 spinal articulation

Question 8

osteoarthritis:

locations most commonly associated

Answer 8

distal interphalangeal joints

Question 9

osteoarthritis:

pharmacotherapy

Answer 9

Acetaminophen - primary/initial therapy

• oral and topical NSAIDs
• tramadol
• topical capsaicin can be used to treat some joint pain, but is not 1st line therapy

Question 10

timing of pain:

rheumatoid arthritis versus osteoarthritis

Answer 10

• RA -
  
  • morning stiffness
  • occurs symmetrically and in multiple joints
  • hypertrophy of met heads, pain, clawtoes, and contractures
  • often w/ systemic sxs
• OA -
  
  • pain after use of joint
  • asymmetric

Question 11

CRPS

definition

Answer 11

pain dysfunction syndrome; thought to be related to overactive sympathetic nervous system, precipitated by a noxious event such as surgery or trauma to the affected extremity

sxs: stiff, swollen extremity that is disproportionate to inciting cause

Question 12

CRPS

stages

Answer 12

• Inflammatory/Acute phase (initial):
  
  • pain and swelling
• Dystrophic phase:
  
  • activity-related pain and hypersensitivity of the skin to temperature and pressure changes
• Atrophic phase:
  
  • skin and muscle atrophy

Question 13

in which stage of CRPS is MRI most useful?

Answer 13

INFLAMMATORY (1st)

hallmarked by enhancement of the subcutaneous tissues with gadolinium and thickening of the skin