Musculoskeletal Pathoma Flashcards
1
Q
Impaired cartilage proliferation in the growth plate=
A
Achondroplasia
2
Q
Achondroplasia is due to
A
Activating mutation in FGFR3
3
Q
Genetic background of Achondroplasia
A
AD
4
Q
Clinical features of Achondroplasia
A
Short extremities
Normal sized head and chest
5
Q
Which bone formation pathway is affected in Achondroplasia
A
Endochondral bone formation
6
Q
Endochondral bone formation is the mechanism by which _____ bones grow
A
Long
7
Q
Congenital defect of bone resorption resulting in structurally weak bone
A
Osteogenesis imperfecta
8
Q
Genetic background of OI
A
AD defect in Collagen type 1 synthesis
9
Q
Clinical symptoms of OI
A
Bone fractures
Blue sclera
Hearing loss
10
Q
Why do we see blue sclera in OI
A
Thinning of sclera collagen reveals underlying choroidal veins
11
Q
Inherited defect of bone resorption resulting in abnormally thick,heavy bone=
A
Osteopetrosis
12
Q
Common mutation leading to Osteopetrosis
A
Carbonic anhydrase II
13
Q
Carbonic anydrase II mutation leads to
A
Loss of the acidic environment required for bone resorption
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
15
Q
Treatment for Osteopetrosis
A
Bone marrow transplants will help with monocytes which will develop to Osteoclasts
16
Q
Defective mineralization of osteoid=
A
Rickets/Osteomalacia
17
Q
Rickets is due to
A
Low vitamin D in children
18
Q
Osteomalacia is due to
A
Low vitamin D in adults
19
Q
How does a bone formed
A
Osteoid mineralized with calcium and phosphate
20
Q
Activation of vitamin D
A
25 hydroxylation by the liver
1-alpha hydroxylation by the proximal tubule cells of the kidney
21
Q
Active vitamin D raises serum calcium and phosphate by acting on
A
Intestine
Kidney
Bone
22
Q
Rickets is most commonly found in children (age)
A
<1 years
23
Q
Rickets presents as
A
Pigeon breast deformity
Enlarged forehead
Rachitic rosary
Bowing of legs
24
Q
Reduction in trabecular bone mass=
A
Osteoporosis
25
Bone mass is lost more quickly with
Lack of weight exercise
Poor diet
Decreased estrogen
26
Why high Alkaline phosphatase in Osteomalacia?
Alkaline environment is necessary to lay down calcium into osteoid
27
Pick Bone mass by the age of 30 is determined by
Exercise
Diet
Vitamin D receptor (genetics)
28
Treatment for osteoporosis
Exercise
Vitamin D
Calcium
29
Imbalance between osteoclasts and osteoblasts=
Paget disease of bone
30
Osteoblasts manage ________
Osteoclasts
31
Peget disease of bone is usually seen in
>60y
32
Possible etiology of Paget disease
Viral
33
Paget disease stages
Osteoclastic
Mixed osteoblastic-osteoclastic
Osteoblastic
34
End result of Paget disease
Thick, sclerotic bone that fractures easily
35
Clinical features of Paget disease
```
Bone pain
Increasing hat size
Hearing loss
Lion like faces
Isolated elevated alkaline phosphatase
```
36
Treatment of Paget disease
Calcitonin
| Bisphosphonates
37
Why treat with calcitonin in Paget disease?
It inhibits Osteoclasts function
38
Why treat Paget disease with Bisphosphonates?
Increases apoptosis of Osteoclasts
39
Complication of Paget disease
High output cardiac failure
| Osteosarcoma
40
Osteomyelitis is
Infection of marrow space and bone
41
Osteomyelitis usually occurs in
Children
42
Osteomyelitis is most often (origin)
Bacterial
43
What causes and where osteomyelitis in children
Transient bacteremia seeds metaphysis
44
What causes and where osteomyelitis in adults
Open wound bacteremia seeds epiphysis
45
Causes of osteomyelitis
```
Staph aureus
N Gonorrhoeae
Salmonella
Pseudomonas
Pasteurella
TB
```
46
Clinical features of osteomyelitis
Bone pain
Signs of infection
Abscess
47
Ischemic necrosis of bone and bone marrow is called
Avascular (aseptic) necrosis
48
List off bone tumors
```
Osteoma
Osteoid osteoma
Osteochondroma
Osteosarcoma
Giant cell tumor
Ewing sarcoma
Chondroma
Chondrosarcoma
Metastatic tumors
```
49
Benign tumor of bone is called
Osteoma
50
Osteoma most commonly arise on
Surface of facial bones
51
Osteoma is associated with what syndrome
Gardner syndrome
52
Benign tumor of osteoblasts
Osteoid osteoma
53
Osteoblasts produces
Osteoid
54
Osteoid osteoma occurs in what population
Young adults
55
Osteoid osteoma arises in what location
Cortex of long bones
56
Bone pain in osteoid osteoma resolves with
Aspirin
57
Benign tumor of bone with an overlying cartilage cap is called
Osteochondroma
58
What is the most common benign tumor of bone
Osteochondroma
59
Osteochondroma arises from
Lateral projection of growth plate
60
What is osteosarcoma
Malignant proliferation of osteoblasts
61
Peak incidence of osteosarcoma is seen in
Teenagers
62
Risk factors for osteosarcoma
Familial retinoblastoma
Paget disease
Radiation exposure
63
Osteosarcoma classically arises in
The metaphysis of long bones
| Distal femur/Proximal tibia
64
Osteosarcoma presents as
Pathologic fracture or bone pain with swelling
65
Codmans angle=
Lifting of the periosteum
66
Codmans angle on imaging is a sign of
Osteosarcoma
67
Histology appearance of osteosarcoma
Pleomorphic cells that produce osteoid
68
What is the only tumor that arises in the epiphysis
Giant cell tumor
69
Giant cell tumor xray
Soap bubble
70
Malignant proliferation of poorly differentiate cells derived from neuroectoderm
Ewing sarcoma
71
Ewing sarcoma is a malignant proliferation of
Poorly differentiate cells derived from neuroectoderm
72
Ewing sarcoma arises in the
Diaphysis of long bones
73
Ewing sarcoma population
Male children <15y
74
Ewing sarcoma appearance on x-ray
Onion skin
75
What translocation is characteristic of Ewing sarcoma
11;2
76
Benign tumor of cartilage
Chondroma
77
Chondroma usually arises in the
Medulla of small bones of hand and feet
78
Chondrosarcoma arises in
Medulla of the pelvis or central skeleton
79
Which tumor classical produces osteoblastic lesions
Prostatic carcinoma
80
Metastatic tumors to the bone usually result in
Osteolytic (punched out) lesions
81
Articular surface of adjoining bones is made of
Hyaline cartilage (collagen type II)
82
Joint disease
```
Degenerative joint disease
Rheumatoid arthritis
Seronegative spondyloarthropathies
Infectious arthritis
Gout
```
83
Degenerative joint disease is also called
Osteoarthritis
84
Osteoarthritis=
Progressive degeneration of articular cartilage
85
What is the most common type of arthritis
Osteoarthritis
86
Osteoarthritis is most often due to
Wear and tear
87
Rheumatoid arthritis is a ____________ disease
Chronic, systemic autoimmune
88
Rheumatoid arthritis is associated with
HLA-DR4
89
Hallmark of rheumatoid arthritis
Synovitis leading to formation of pannus
90
What is pannus
Inflamed granulation tissue
91
Rheumatoid arthritis leads to distraction of
Cartilage and ankylosis of the joint
92
Which hand joints are involved in osteoarthritis
DIP and PIP
93
Which hand joint are involved in rheumatoid arthritis
PIP
94
Clinical features of rheumatoid arthritis
```
Arthritis with morning stiffness that improves with activity
Fever
Weight loss
Myalgia
Vasculitis
Baker cyst
Pleural effusions
Lymphadenopathy
Rheumatoid nodules
```
95
What are rheumatoid nodules
Central zone of necrosis surrounded by epitheloid histiocytes
96
Where can we find rheumatoid nodules
Skin
| Visceral organs
97
Laboratory findings of rheumatoid arthritis
IgM Ab against Fc region of IgG
98
What will we find in the synovial fluid of rheumatoid arthritis patient
Neutrophils and high protein
99
Complication of rheumatoid arthritis
```
Anemia of chronic disease
Secondary amyloidosis (SAA->AA)
```
100
X linked muscle dystrophy=
Degenerative disorder characterized by muscle wasting and replacement of skeletal muscle by adipose tissue
101
X linked muscle dystrophy is due to
Mutation of dystrophin
102
Dystrophin is important for
Anchoring the muscle cytoskeleton to the extracellular matrix
103
Duchenne muscular dystrophy is due to
Deletion of dystrophin
104
Becker muscular dystrophy is due to
Mutated dystrophin
105
What is a characteristic finding in Duchenne muscular dystrophy
Calf pseudohypertrophy
106
Why there is creatinine kinase elevation in muscular dystrophy
Muscle damage causes creatinine kinase to leak outside the muscle cell
107
Myasthenia gravis=
Autoantibodies against postsynaptic Ach-R at the neuromuscular junction
108
MG is more commonly seen in
Women
109
MG classically involves the
Eye- Ptosis, diplopia
110
MG is associated with
Thymic hyperplasia/thymoma
111
NMJ diseases
MG
| Lambert-Eaton syndrome
112
Lambert-Eaton syndrome=
Ab against presynaptic calcium channels of the NMJ
113
Lambert-Eaton syndrome arises as a
Paraneoplastic syndrome
114
Lambert-Eaton syndrome arises as paraneoplastic syndrome most commonly due to
Small cell carcinoma of the lung
115
Lambert-Eaton syndrome leads to impared
Ach release
116
Clinical features of Lambert-Eaton syndrome
Proximal muscle weakness that improves with use
| Eyes are spared
117
Lambert-Eaton syndrome resolves with
Resection of the cancer
118
What is the most common benign soft tissue tumor In adults
Lipoma
119
What is the most common malignant soft tissue tumor in adults
Liposarcoma
120
What is the most common malignant soft tissue tumor in children
Rhabdomyosarcoma
