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SN Pathology final > Musculoskeletal Pathoma > Flashcards

Musculoskeletal Pathoma Flashcards

1
Q

Impaired cartilage proliferation in the growth plate=

A

Achondroplasia

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2
Q

Achondroplasia is due to

A

Activating mutation in FGFR3

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3
Q

Genetic background of Achondroplasia

A

AD

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4
Q

Clinical features of Achondroplasia

A

Short extremities

Normal sized head and chest

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5
Q

Which bone formation pathway is affected in Achondroplasia

A

Endochondral bone formation

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6
Q

Endochondral bone formation is the mechanism by which _____ bones grow

A

Long

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7
Q

Congenital defect of bone resorption resulting in structurally weak bone

A

Osteogenesis imperfecta

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8
Q

Genetic background of OI

A

AD defect in Collagen type 1 synthesis

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9
Q

Clinical symptoms of OI

A

Bone fractures
Blue sclera
Hearing loss

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10
Q

Why do we see blue sclera in OI

A

Thinning of sclera collagen reveals underlying choroidal veins

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11
Q

Inherited defect of bone resorption resulting in abnormally thick,heavy bone=

A

Osteopetrosis

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12
Q

Common mutation leading to Osteopetrosis

A

Carbonic anhydrase II

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13
Q

Carbonic anydrase II mutation leads to

A

Loss of the acidic environment required for bone resorption

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14
Q

Osteopetrosis clinical features

A 
Bone fractures
Anemia (Bone replaces the bone marrow)
Vision and hearing impairment
Hydrocephalus (narrow foramen magnum)
Renal tubular acidosis
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15
Q

Treatment for Osteopetrosis

A

Bone marrow transplants will help with monocytes which will develop to Osteoclasts

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16
Q

Defective mineralization of osteoid=

A

Rickets/Osteomalacia

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17
Q

Rickets is due to

A

Low vitamin D in children

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18
Q

Osteomalacia is due to

A

Low vitamin D in adults

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19
Q

How does a bone formed

A

Osteoid mineralized with calcium and phosphate

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20
Q

Activation of vitamin D

A

25 hydroxylation by the liver

1-alpha hydroxylation by the proximal tubule cells of the kidney

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21
Q

Active vitamin D raises serum calcium and phosphate by acting on

A

Intestine
Kidney
Bone

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22
Q

Rickets is most commonly found in children (age)

A

<1 years

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23
Q

Rickets presents as

A

Pigeon breast deformity
Enlarged forehead
Rachitic rosary
Bowing of legs

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24
Q

Reduction in trabecular bone mass=

A

Osteoporosis

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25
Q

Bone mass is lost more quickly with

A

Lack of weight exercise
Poor diet
Decreased estrogen

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26
Q

Why high Alkaline phosphatase in Osteomalacia?

A

Alkaline environment is necessary to lay down calcium into osteoid

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27
Q

Pick Bone mass by the age of 30 is determined by

A

Exercise
Diet
Vitamin D receptor (genetics)

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28
Q

Treatment for osteoporosis

A

Exercise
Vitamin D
Calcium

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29
Q

Imbalance between osteoclasts and osteoblasts=

A

Paget disease of bone

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30
Q

Osteoblasts manage ________

A

Osteoclasts

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31
Q

Peget disease of bone is usually seen in

A

> 60y

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32
Q

Possible etiology of Paget disease

A

Viral

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33
Q

Paget disease stages

A

Osteoclastic
Mixed osteoblastic-osteoclastic
Osteoblastic

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34
Q

End result of Paget disease

A

Thick, sclerotic bone that fractures easily

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35
Q

Clinical features of Paget disease

A 
Bone pain
Increasing hat size
Hearing loss
Lion like faces
Isolated elevated alkaline phosphatase
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36
Q

Treatment of Paget disease

A

Calcitonin

Bisphosphonates

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37
Q

Why treat with calcitonin in Paget disease?

A

It inhibits Osteoclasts function

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38
Q

Why treat Paget disease with Bisphosphonates?

A

Increases apoptosis of Osteoclasts

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39
Q

Complication of Paget disease

A

High output cardiac failure

Osteosarcoma

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40
Q

Osteomyelitis is

A

Infection of marrow space and bone

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41
Q

Osteomyelitis usually occurs in

A

Children

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42
Q

Osteomyelitis is most often (origin)

A

Bacterial

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43
Q

What causes and where osteomyelitis in children

A

Transient bacteremia seeds metaphysis

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44
Q

What causes and where osteomyelitis in adults

A

Open wound bacteremia seeds epiphysis

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45
Q

Causes of osteomyelitis

A 
Staph aureus
N Gonorrhoeae
Salmonella
Pseudomonas
Pasteurella
TB
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46
Q

Clinical features of osteomyelitis

A

Bone pain
Signs of infection
Abscess

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47
Q

Ischemic necrosis of bone and bone marrow is called

A

Avascular (aseptic) necrosis

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48
Q

List off bone tumors

A 
Osteoma
Osteoid osteoma
Osteochondroma
Osteosarcoma
Giant cell tumor
Ewing sarcoma
Chondroma
Chondrosarcoma
Metastatic tumors
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49
Q

Benign tumor of bone is called

A

Osteoma

50
Q

Osteoma most commonly arise on

A

Surface of facial bones

51
Q

Osteoma is associated with what syndrome

A

Gardner syndrome

52
Q

Benign tumor of osteoblasts

A

Osteoid osteoma

53
Q

Osteoblasts produces

A

Osteoid

54
Q

Osteoid osteoma occurs in what population

A

Young adults

55
Q

Osteoid osteoma arises in what location

A

Cortex of long bones

56
Q

Bone pain in osteoid osteoma resolves with

A

Aspirin

57
Q

Benign tumor of bone with an overlying cartilage cap is called

A

Osteochondroma

58
Q

What is the most common benign tumor of bone

A

Osteochondroma

59
Q

Osteochondroma arises from

A

Lateral projection of growth plate

60
Q

What is osteosarcoma

A

Malignant proliferation of osteoblasts

61
Q

Peak incidence of osteosarcoma is seen in

A

Teenagers

62
Q

Risk factors for osteosarcoma

A

Familial retinoblastoma
Paget disease
Radiation exposure

63
Q

Osteosarcoma classically arises in

A

The metaphysis of long bones

Distal femur/Proximal tibia

64
Q

Osteosarcoma presents as

A

Pathologic fracture or bone pain with swelling

65
Q

Codmans angle=

A

Lifting of the periosteum

66
Q

Codmans angle on imaging is a sign of

A

Osteosarcoma

67
Q

Histology appearance of osteosarcoma

A

Pleomorphic cells that produce osteoid

68
Q

What is the only tumor that arises in the epiphysis

A

Giant cell tumor

69
Q

Giant cell tumor xray

A

Soap bubble

70
Q

Malignant proliferation of poorly differentiate cells derived from neuroectoderm

A

Ewing sarcoma

71
Q

Ewing sarcoma is a malignant proliferation of

A

Poorly differentiate cells derived from neuroectoderm

72
Q

Ewing sarcoma arises in the

A

Diaphysis of long bones

73
Q

Ewing sarcoma population

A

Male children <15y

74
Q

Ewing sarcoma appearance on x-ray

A

Onion skin

75
Q

What translocation is characteristic of Ewing sarcoma

A

11;2

76
Q

Benign tumor of cartilage

A

Chondroma

77
Q

Chondroma usually arises in the

A

Medulla of small bones of hand and feet

78
Q

Chondrosarcoma arises in

A

Medulla of the pelvis or central skeleton

79
Q

Which tumor classical produces osteoblastic lesions

A

Prostatic carcinoma

80
Q

Metastatic tumors to the bone usually result in

A

Osteolytic (punched out) lesions

81
Q

Articular surface of adjoining bones is made of

A

Hyaline cartilage (collagen type II)

82
Q

Joint disease

A 
Degenerative joint disease
Rheumatoid arthritis
Seronegative spondyloarthropathies
Infectious arthritis
Gout
83
Q

Degenerative joint disease is also called

A

Osteoarthritis

84
Q

Osteoarthritis=

A

Progressive degeneration of articular cartilage

85
Q

What is the most common type of arthritis

A

Osteoarthritis

86
Q

Osteoarthritis is most often due to

A

Wear and tear

87
Q

Rheumatoid arthritis is a ____________ disease

A

Chronic, systemic autoimmune

88
Q

Rheumatoid arthritis is associated with

A

HLA-DR4

89
Q

Hallmark of rheumatoid arthritis

A

Synovitis leading to formation of pannus

90
Q

What is pannus

A

Inflamed granulation tissue

91
Q

Rheumatoid arthritis leads to distraction of

A

Cartilage and ankylosis of the joint

92
Q

Which hand joints are involved in osteoarthritis

A

DIP and PIP

93
Q

Which hand joint are involved in rheumatoid arthritis

A

PIP

94
Q

Clinical features of rheumatoid arthritis

A 
Arthritis with morning stiffness that improves with activity
Fever
Weight loss
Myalgia
Vasculitis
Baker cyst
Pleural effusions
Lymphadenopathy
Rheumatoid nodules
95
Q

What are rheumatoid nodules

A

Central zone of necrosis surrounded by epitheloid histiocytes

96
Q

Where can we find rheumatoid nodules

A

Skin

Visceral organs

97
Q

Laboratory findings of rheumatoid arthritis

A

IgM Ab against Fc region of IgG

98
Q

What will we find in the synovial fluid of rheumatoid arthritis patient

A

Neutrophils and high protein

99
Q

Complication of rheumatoid arthritis

A 
Anemia of chronic disease
Secondary amyloidosis (SAA->AA)
100
Q

X linked muscle dystrophy=

A

Degenerative disorder characterized by muscle wasting and replacement of skeletal muscle by adipose tissue

101
Q

X linked muscle dystrophy is due to

A

Mutation of dystrophin

102
Q

Dystrophin is important for

A

Anchoring the muscle cytoskeleton to the extracellular matrix

103
Q

Duchenne muscular dystrophy is due to

A

Deletion of dystrophin

104
Q

Becker muscular dystrophy is due to

A

Mutated dystrophin

105
Q

What is a characteristic finding in Duchenne muscular dystrophy

A

Calf pseudohypertrophy

106
Q

Why there is creatinine kinase elevation in muscular dystrophy

A

Muscle damage causes creatinine kinase to leak outside the muscle cell

107
Q

Myasthenia gravis=

A

Autoantibodies against postsynaptic Ach-R at the neuromuscular junction

108
Q

MG is more commonly seen in

A

Women

109
Q

MG classically involves the

A

Eye- Ptosis, diplopia

110
Q

MG is associated with

A

Thymic hyperplasia/thymoma

111
Q

NMJ diseases

A

MG

Lambert-Eaton syndrome

112
Q

Lambert-Eaton syndrome=

A

Ab against presynaptic calcium channels of the NMJ

113
Q

Lambert-Eaton syndrome arises as a

A

Paraneoplastic syndrome

114
Q

Lambert-Eaton syndrome arises as paraneoplastic syndrome most commonly due to

A

Small cell carcinoma of the lung

115
Q

Lambert-Eaton syndrome leads to impared

A

Ach release

116
Q

Clinical features of Lambert-Eaton syndrome

A

Proximal muscle weakness that improves with use

Eyes are spared

117
Q

Lambert-Eaton syndrome resolves with

A

Resection of the cancer

118
Q

What is the most common benign soft tissue tumor In adults

A

Lipoma

119
Q

What is the most common malignant soft tissue tumor in adults

A

Liposarcoma

120
Q

What is the most common malignant soft tissue tumor in children

A

Rhabdomyosarcoma

SN Pathology final (13 decks)

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