Test II Combined Pathologies Flashcards
(43 cards)
Describe Refsum Disease.
Deficiency in the a- hydroxylase enzyme.
Accumulation of phytanic acid in plasma and nerve tissues.
Neurological damage due to phytanate accumulation.
Describe SIDS
Medium chain fatty acyl CoA dehydrogenase deficiency causes 10% of the cases of SIDS.
Frequency of the disease is 1:10,000 birth with an autosomal recessive mode of inheritance.
Describe Methylmalonic acidemia?
Methylmalonyl CoA mutase is missing.
In some cases conversion of Vitamin B 12 into coenzyme form is missing.
Causes metabolic acidosis and mental retardation.
Describe Kwashiorkor?
- Protein Deficiency
- Emma, Fatty Liver
- Hypoproteinemia
Describe Von Gierke Disease
- Type I GSD; autosomal recessive
- Lack of glucose-6-phosphatase
- Accumulation of glycogen
- Hypoglycemia, hepatomegaly, lactic acidosis, Gout
Describe McArdle Disease
- Type V GSD;
- Glycogen phosphorylase deficiency
- Exercise intolerance
- “Second Wind” Phenomenon
Describe Cori Disease.
- Type II GSD
- Debranching enzyme a-1,6 -glucosidase
- Hepatomegaly and hypoglycemia
Describe Arcus Semitic.
- Cholesterol deposits in the cornea
- Hyperchlesterolemia
Describe Xanthelasma
Cholesterol deposits under skin
Describe cholelothiasis
- higher cholesterol in bile acid leading to gall stones
Describe Tennis Elbow
- Extensor forearm musculature overuse
- Pain at lateral epicondyle
Commonly the extensor carpi Radialis BREVIS
Describe Golfer’s elbow
- Medial epicondylitis
- Pain repetitive use of superficial anterior forearm muscles
What is De Quervain’s disease?
- Thickening of Common fibrous sheath of APL and EPB leading to tendonitis
- pain/tenderness over insertion tendon on palpating
- Finkelstien test
What is a Galeazzi fracture?
Fracture of the radius with dislocated distal radio-ulnar joint
Describe Barton’s fracture
- An intraarticular fracture of the distal radius with dislocation of the radiocarpal joint
- outstretched arm with forearm pronated and hand flexed.
Describe Carpal tunnel syndrome.
- paresthesias,
pain, numbness, and loss or impairment of function
of the hand over the distribution of the median
nerve. - Usually caused by repetitive motion (repetitive motion
injury), but it may be due to trauma (e.g. fracture of the
lunate), tendonitis, space-occupying lesions (ganglion cysts),
occupational hazards (carpenters, typists, rowers, vibrating
tools…)
-
Describe Colles Fracture
- Avulsed Ulnar styloid process
- Distal fragment of radius overrides rest of bone
- “Dinner Form” Deformity
Describe Smith fracture.
- Falling on posterior hand while flexed
- Posterior comes out posterior
Describe common cause of avascular necrosis.
- Common complication fo scaphoid fracture
- Most often happen in fracture of proximal 1/3
Describe Dupuytren’s contractures
- fibrosis of the palmar aponeurosis with shortening of
the digital bands, especially those to the 4th and 5th fingers. - pull the digits in such marked flexion at the MPJ that they cannot be
straightened.
Describe Boxer’s fracture?
- Fracture of metacarpal of the hand
- Metacarpal 5 usually
Describe Mallet Finger
- Sudden severe tension on a Long extensor tendon which avulses part of its attachment to phalanx
- Hyperflexion of DIPJ at extensor Digitorum tendon
Describe be nurse aids elbow
children 1-3 y/o = incomplete dislocation (subluxation) of the head of the radius (AKA slipped elbow , nursemaid s elbow ). Occurs when the child is suddenly lifted by the upper limb when the forearm is pronated.
Describe Erb-Duchene paralysis.
- Upper brachial plexus
- violent, excessive separation of neck/shoulder, etc
- violent stretching of infants neck
- Waiter’s tip Position
