Test II Combined Pathologies Flashcards
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…)
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Describe Colles Fracture
- Avulsed Ulnar styloid process
- Distal fragment of radius overrides rest of bone
- “Dinner Form” Deformity