Test II Combined Pathologies Flashcards

1
Q

Describe Refsum Disease.

A

Deficiency in the a- hydroxylase enzyme.

Accumulation of phytanic acid in plasma and nerve tissues.

Neurological damage due to phytanate accumulation.

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2
Q

Describe SIDS

A

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.

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3
Q

Describe Methylmalonic acidemia?

A

Methylmalonyl CoA mutase is missing.

In some cases conversion of Vitamin B 12 into coenzyme form is missing.

Causes metabolic acidosis and mental retardation.

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4
Q

Describe Kwashiorkor?

A
  • Protein Deficiency
  • Emma, Fatty Liver
  • Hypoproteinemia
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5
Q

Describe Von Gierke Disease

A
  • Type I GSD; autosomal recessive
  • Lack of glucose-6-phosphatase
  • Accumulation of glycogen
  • Hypoglycemia, hepatomegaly, lactic acidosis, Gout
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6
Q

Describe McArdle Disease

A
  • Type V GSD;
  • Glycogen phosphorylase deficiency
  • Exercise intolerance
  • “Second Wind” Phenomenon
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7
Q

Describe Cori Disease.

A
  • Type II GSD
  • Debranching enzyme a-1,6 -glucosidase
  • Hepatomegaly and hypoglycemia
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8
Q

Describe Arcus Semitic.

A
  • Cholesterol deposits in the cornea

- Hyperchlesterolemia

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9
Q

Describe Xanthelasma

A

Cholesterol deposits under skin

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10
Q

Describe cholelothiasis

A
  • higher cholesterol in bile acid leading to gall stones
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11
Q

Describe Tennis Elbow

A
  • Extensor forearm musculature overuse
  • Pain at lateral epicondyle
    Commonly the extensor carpi Radialis BREVIS
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12
Q

Describe Golfer’s elbow

A
  • Medial epicondylitis

- Pain repetitive use of superficial anterior forearm muscles

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13
Q

What is De Quervain’s disease?

A
  • Thickening of Common fibrous sheath of APL and EPB leading to tendonitis
  • pain/tenderness over insertion tendon on palpating
  • Finkelstien test
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14
Q

What is a Galeazzi fracture?

A

Fracture of the radius with dislocated distal radio-ulnar joint

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15
Q

Describe Barton’s fracture

A
  • An intraarticular fracture of the distal radius with dislocation of the radiocarpal joint
  • outstretched arm with forearm pronated and hand flexed.
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16
Q

Describe Carpal tunnel syndrome.

A
  • 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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17
Q

Describe Colles Fracture

A
  • Avulsed Ulnar styloid process
  • Distal fragment of radius overrides rest of bone
  • “Dinner Form” Deformity
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18
Q

Describe Smith fracture.

A
  • Falling on posterior hand while flexed

- Posterior comes out posterior

19
Q

Describe common cause of avascular necrosis.

A
  • Common complication fo scaphoid fracture

- Most often happen in fracture of proximal 1/3

20
Q

Describe Dupuytren’s contractures

A
  • 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.
21
Q

Describe Boxer’s fracture?

A
  • Fracture of metacarpal of the hand

- Metacarpal 5 usually

22
Q

Describe Mallet Finger

A
  • Sudden severe tension on a Long extensor tendon which avulses part of its attachment to phalanx
  • Hyperflexion of DIPJ at extensor Digitorum tendon
23
Q

Describe be nurse aids elbow

A

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.

24
Q

Describe Erb-Duchene paralysis.

A
  • Upper brachial plexus
  • violent, excessive separation of neck/shoulder, etc
  • violent stretching of infants neck
  • Waiter’s tip Position
25
Q

Describe middle brachial plexus injuries.

A
  • rare
  • SN C7
  • Adduction, abduction, extension, and lateral rotation
26
Q

Describe Djerine-Klumpke Paralysis

A
  • Lower brachial plexus
  • Shoulder dislocation
  • Affects C8/T1; similar to Ulnar nerve injuries
  • Loss of flexion at wrist, paralysis of muscles of hand (Claw Hand), and inability to adduct due to involvement of medial pectoral nerve
27
Q

Describe Crutch Palsy

A
  • Radial Nerve affected
  • Wrist drop
  • Abduction and adduction of the hand are
    impaired.
  • Impaired cutaneous sensation over the dorsum of
    the hand.
  • Thumb movement is impaired.
  • if posterior interosseus injured, only thumb movements affected
28
Q

Describe damage to axillary nerve.

A
  • Injury may result from fracture of the surgical
    neck of the humerus.
  • It affects the deltoid and teres minor muscles.
  • It leads to loss of abduction and impaired
    lateral rotation.
29
Q

Describe damage to MSC nerve

A
  • Flexion of the forearm is lost.
  • Flexion at the shoulder is lost.
  • Sensory loss to the lateral forearm.
30
Q

Describe Volmanns contracture

A
  • Ischemia from brachial artery
  • Sometimes prolonged tourniquet
  • IP flexion, MO extension, Wrist flexion, forearm pronation, elbow flexion, thumb Adduction
31
Q

What nerve is affected by fractures of the surgical neck of humerus?

A

Axillary

32
Q

Describe supracondylar fractures

A
  • falling onto a hyper extended elbow
  • transverse fracture spanning two epicondyles
  • Volkmann;s ischemic Fracture
33
Q

Describe Huntington’s disease

A
  • triple CAG repeats
  • Los of GABAergic neurons
  • Symptoms start in 40s
  • Involuntary movements w/ chorea
  • putamen/cuadate nucleus
34
Q

What are the symptoms of hypercholinergic drugs?

A

SLUDGE

Salivation 
Lacrimation
Urination
Diarrhea
GI
Emesis
35
Q

Describe Brown-Sequard syndrome

A
  • Loss of pain/temp on one side; Proprioception, vibration, and touch on contralateral side
36
Q

Describe Shingles

A
  • Dorsal root ganglion neurons affected
  • Chicken pox virus lie dormant
  • Affects 2 adjacent dermatomes
37
Q

Describe Muscular dystrophy

A
  • X linked disease
  • wheelchair by 12-12
  • dead by 20
  • defect in dystrophin
38
Q

Describe malignant hyperthermia

A
  • Autosomal dominant mutation
  • Ryanodine receptor
  • Normal muscle function
  • Anesthetics and strenuous exercise causes abnormal release of Ca from SR resulting in sustained contraction and heat production
39
Q

Describe Facial Palsy?

A
  • CN VII
  • Mydriasis
  • Facial muscle paralysis
  • failure to close eye (orbicularis oculi)
40
Q

What is anosocoria?

A

Pupillary inequality

41
Q

Describe Horners syndrome

A
  1. Anhydrosis
  2. Pupil constriction
  3. Partial ptosis
  4. Enophthalmos
  • Interruption Of Sympathetic supply to head
42
Q

Describe Sjögren’s syndrome

A
  • Chronic inflammatory autoimmune disease
  • Deficiency of exocrine glands
  • Xerostomia
    And keratocojuctivatis
43
Q

Describe Pheochromocytoma

A
  • abnormal increases in production of E/NE by chromaffin cells
  • Patients suffer from sudden attacks of chest pain, hypertension, headache, racing heart, diaphoresis.
  • high catecholamine levels and excessive sympathetic activity.