Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

MSK > MSK > Flashcards

MSK Flashcards

1
Q

Name this condition: Results from an activating mutation in FGFR3

A

Achondroplasia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Inheritance of FGFR3 mutation

A

Autosomal dominant, correlated with increased paternal age (most mutations are sporadic)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Name this condition: Congenital defect of bone formation that results in weak bone

A

Osteogenesis Imperfecta

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Clinical features of Osteogenesis Imperfecta

A

Multiple bone fractures, blue sclera, and hearing loss

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Why are the sclera blue in Osteogenesis Imperfecta

A

Exposure of the choroidal veins

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Name this condition: Inherited defect in bone resorption that results in abnormally thick, heavy bone that fractures easily

A

Osteopetrosis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Osteopetrosis occurs because of what gene abnormality

A

There are multiple genetic variants, but a mutation in carbonic anhydrase II is of most significance. This results in a lack of acidic environment required for the resorption of bone

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

What are the clinical features of Osteopetrosis

A

Bone fractures of thick bones; Anemia, thrombocytopenia, and leukopenia with extramedullary hematopoiesis; Vision and hearing impairment; Hydrocephalus; Renal tubular acidosis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

What is the treatment for Osteopetrosis

A

Bone marrow transplant

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Name this condition: Defective mineralization of osteoid due to low levels of vitamin D

A

Rickets (children usually <1 year of age)/Osteomalacia (adults)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Causes of vitamin D deficiency

A

Decreased sun exposure, poor diet, malabsorption, liver failure and renal failure

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

What is Achondroplasia

A

Impaired cartilage proliferation in the growth plate that results in short extremities (extremities are formed by endochondral ossification) with a normal-sized head and chest (head and chest are formed by intramembranous ossification). Mental function, life span, and fertility are not affected

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

What is Osteogenesis Imperfecta

A

A congenital defect of bone formation (most commonly due to an autosomal dominant defect of type I collagen), resulting in weak bones that presents with multiple bone fractures, blue sclera, and hearing loss

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

How would lab values for serum calcium, serum phosphate, PTH, and alkaline phosphatase be affected in Osteomalacia

A

Serum calcium decreased, serum phosphate decreased, PTH increased, and alkaline phosphatase increased (due to activation of osteoblasts)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Name this condition: Loss of trabecular bone mass resultin in porous bone with increased risk of fracture

A

Osteoporosis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

How would lab values for serum calcium, serum phosphate, PTH, and alkaline phosphatase be affected in Osteoporosis

A

All are normal

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

What are the clinical features of Osteoporosis

A

Bone pain and fractures in weight-bearing areas

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

What is used to measure bone density

A

DEXA scan

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

Treatment for Osteoporosis

A

Exercise, Vit D, calcium, bisphosphonates, estrogen replacement therapy (debated), glucocorticoids are contraindicated

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

Name this condition: A localized imbalance between osteoclast (active without regulation from osteoblast) and osteoblast (responds by laying down bone but not in a strong way) function involving one or more bones (not the entire skeleton) that is usually seen in late adulthood (~60)

A

Paget Disease of Bone

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

Etiology of Paget Disease of Bone

A

Unkown but possibly viral

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

What are the clinical features of Paget Disease of Bone

A

Bone pain, increasing hat size (skull is commonly affected), hearing loss, lion-like facies (thick sclerotic facial bones), isolated elevated alkaline phosphatase.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

Treatment for Paget Disease of Bone

A

Calcitonin and bisphosphonates

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

What are the potential complications of Paget Disease of Bone

A

High-output cardiac failure and osteosarcoma

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

What is Osteosarcoma

A

A malignant proliferation of osteoblasts

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

Name this condition: Infection of marrow space and bone usually due to bacteria and hematogenous spread, usually seen in children

A

Osteomyelitis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

Where does Osteomyelitis occur in children

A

Metaphysis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

Where does Osteomyelitis occur in adults

A

Epiphysis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

Which bacteria cause Osteomyelitis

A

Staph Aureus (most common overall), N. gonorrhoea, Salmonella (most common in Sickle Cell disease, Pseudomonas (most common in diabetics), Pasteurella (due to a animal bite or scratch)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
30
Q

What are the clinical features of Osteomyelitis

A

Bone pain with fever and leukocytosis, lytic focus surrounded by sclerosis on X-ray, diagnosis is made by blood culture

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
31
Q

Name this condition: Ischemic necrosis of bone and bone marrow cuased by trauma or fracture, steroids, sickle cell, and caisson disease

A

Avascular (aseptic) Necrosis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
32
Q

What are the complications of Avascular (aseptic) Necrosis

A

Osteoarthritis and fracture

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
33
Q

Name this condition: Benign tumor of bone that most commonly arises on the surface of facial bones and is associated with Gardner Syndrome (also known as familial colorectal polyposis, is an autosomal dominant form of polyposis characterized by the presence of multiple polyps in the colon together with tumors outside the colon)

A

Osteoma

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
34
Q

Name this condition: Benign tumor of osteoblasts surrounded by a rim of reactive bone that occurs in young adults <25 years of age and arises in the cortex of long bones

A

Osteoid Osteoma

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
35
Q

Bone pain that resolves with aspirin is indicative of what condtition

A

Osteoid Osteoma (imaging reveals a bony mass with a radiolucent - osteoid - core)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
36
Q

What are the key differences between an Osteoid Osteoma and a Osteoblastoma

A

Osteoblastomas are larger (>2cm), Arise in vertebrae, and present as bone pain that does not respond to aspirin

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
37
Q

What is the most common benign tumor of bone

A

Osteochondroma

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
38
Q

What is Osteochondroma

A

A tumor of bone with an overlying cartilage cap. It arises from a lateral projection of the growth plate

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
39
Q

The overlying cartilage of an osteochondroma can transform to what

A

Chondrosarcoma (malignant cartilage tumor)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
40
Q

Name this condition: Malignant proliferation of osteoblasts with a peak incidence in teenagers (also small peak in elderly but less common than teenagers)

A

Osteosarcoma

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
41
Q

Risk factors for Osteosarcoma include

A

Familial retinoblastoma (teenagers); Paget disease and radiation exposure (elderly)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
42
Q

Name this condition: Arises in the metaphysis of long bones (usually distal femur or proximal tibia) and presents as a pathologic fracture or bone pain with swelling

A

Osteosarcoma

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
43
Q

What is Codmans angle and what is it a sign of

A

It is the triangular area of new subperiosteal bone that is created when a lesion, often a tumour, raises the periosteum away from the bone. It is a sign of Osteosarcoma

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
44
Q

What is the hallmark biopsy finding in Osteosarcoma

A

Pleomorphic cells that are producing osteoid

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
45
Q

Name this condition: Locally aggressive tumors that arise in the epiphysis of long bones and are comprised of multinucleated giant cells and stromal cells that occur in young adults

A

Giant Cell Tumor

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
46
Q

In what condition is a ‘Soap-bubble’ appearance seen on X-ray

A

Giant Cell Tumor

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
47
Q

What is the only epiphyseal tumor of bone

A

Giant Cell Tumor

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
48
Q

Name this condition: Malignant proliferation of poorly-differentiated cells derived from neuroectoderm that arises in the diaphysis of long bones, and is usually seen in male children

A

Ewing Sarcoma

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
49
Q

In what condition is a ‘Onion-skin’ appearance seen on X-ray

A

Ewing Sarcoma

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
50
Q

What is Ewing Sarcoma derived from

A

Neuroectoderm

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
51
Q

What gene mutation is seen in Ewing Sarcoma

A

t(11;22) = 85% of cases. t(21;21) = 5-10% of cases

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
52
Q

Where is the inflammation in Polymiositis and Dermatomyositis

A

Polymiositis = endomysium; Dermatomyositis = Perimysium

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
53
Q

Name this condition: Benign tumor of cartilage that usually arises in the medulla of small bones of hands and feet

A

Chondroma

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
54
Q

Name this condition: Malignant tumor of cartilage that usually arises in the medulla of pelvis or central skeleton

A

Chondrosarcoma (malignant cartilage tumor)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
55
Q

Clinical features of Metastatic tumors of bone

A

More common than primary bone tumors. Usually result in osteolytic (punched-out) bone lesions, however, prostatic carcinoma classically produces osteoblastic lesions

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
56
Q

What kind of collagen composes articular cartilage

A

Type II collagen

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
57
Q

Where do Osteophytes occur

A

Classically in the DIP and PIP joints of the fingers

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
58
Q

The DIP is usually spared in which condition

A

Rheumatoid Arthritis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
59
Q

What serotype is Rheumatoid Arthritis associated with

A

HLA-DR1 or HLA-DR4

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
60
Q

Fever, Malaise, weight loss, and myalgias may be present in which joint condition

A

Rheumatoid Arthritis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
61
Q

What immunoglobulin lab finding is seen in Rheumatoid Arthritis

A

IgM autoantibody against Fc portion of IgG (Called Rheumatoid factor)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
62
Q

What are two complications of Rheumatoid Arthritis

A

Anemia of Chronic Disease and Secondary Amyloidosis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
63
Q

Seronegative Spondyloarthropathies

A

A group of Joint diseases of the axial skeleton in the absence of Rheumatoid Factor

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
64
Q

What serotype is Seronegative Spondyloarthropathies associated with

A

HLA-B27 (90% of Ankylosing Spondylitis, 80% of Reactive Arthritis)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
65
Q

Name this condition: Joint disease involving the sacroiliac joints and the spine that arises in young (mostly male) adults and presents with low back pain and sometimes uveitis and aortitis (leading to aortic regurg)

A

Ankylosing Spondyloarthritis (a Seronegative Spondyloarthropathy)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
66
Q

Name this condition: Usually arises in young male adults (20s-30s) weeks after GI or Chlamydia trachomatis infection and presents with arthritis, urethritis, and conjunctivitis

A

Reiter Syndrome (a Seronegative Spondyloarthropathy)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
67
Q

What is Psoriatic Arthritis (a Seronegative Spondyloarthropathy)

A

It is seen in 10% of psoriasis cases and involves the axial and peripheral joints. DIP of the hands and feet are commonly affected (‘sausage’ finger or toe)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
68
Q

Name this condition: Involves a single joint (usually the knee). The joint is warm and erythematous,with limited range of motion and there is associated fever, increased WBCs, and elevated ESR

A

Infectious Arthritis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
69
Q

What is the most common Infectious Arthritis

A

N gonorrhoeae (classically seen in young sexually active adults)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
70
Q

What is the 2nd most common cause of Infectious Arthritis

A

Staph Aureus (classically seen in older children and adults)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
71
Q

Name this condition: Deposition of Monosodium Urate crystals in the joint space

A

Gout

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
72
Q

Name this condition: Increased creatinine kinase, positive ANA and anti-Jo-1 antibody, and perimysial inflammation (CD4+ T cells) with perifasicular atrophy

A

Dermatomyositis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
73
Q

What is the cause of Gout

A

Hyperuricemia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
74
Q

AMP and GMP are broken down into what and what is the enzyme that controls this process

A

Xanthine and then uric acid. The conversion of xanthine to uric acid is catalyzed by xanthine oxidase

75
Q

What is Secondary Gout

A

Hyperuricemia due to a known cause such as Leukemia, myeloproliferative disorders, Lesch-Nyhan syndrome (a rare inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT), produced by mutations in the HPRT gene located on the X chromosome), or renal insufficiency

76
Q

What is podagra

A

Painful arthritis of the great toe, seen in gout

77
Q

What are two important triggers of acute gout

A

Consumption of alcohol and meat

78
Q

What are tophi

A

Uric acid crystals in soft tissue or joints, seen in chronic gout

79
Q

Name this condition: Needle-shaped crystals with negative birefringence under polarized light (when the needles lay flat they are yellow)

A

Gout

80
Q

Name this condition: Rhomboid-shaped crystals with weak positive birefringence under polarized light

A

Pseudogout

81
Q

Name this condition: Deposition of calcium pyrophosphate crystals in the joint space

A

Pseudogout

82
Q

Name this condition: Inflammatory disorder of the skin and skeletal muscle. Its of unknown etiology but some cases are associated with carcinoma (eg gastric carcinoma)

A

Dermatomyositis

83
Q

What are the clinical features of Dermatomyositis

A

Bilateral proximal weakness; distal invollvement can develop late in disease. Rash of the upper eyelids (heliotrope rash or malar rash), and red papules on the elbows, knuckles, and knees

84
Q

What is the treatment for Dermatomyositis

A

Corticosteroids

85
Q

Name this condition: Inflammatory disorder of skeletal muscle that resembles dermatomyositis clinically but the skin is not involved. It is characterized by endomysial inflammation (CD8+ T cells) with necrotic muscle fibers

A

Polymyositis

86
Q

Name this condition: Degenerative disorder characterized by muscle wasting and replacement of skeletal muscle by adipose tissue

A

X-linked Muscular Dystrophy (Duchene or Becker)

87
Q

What gene is deleted in X-linked Muscular Dystrophy

A

Dystrophin gene (anchoring molecule that links the muscle cytoskeleton to the extracellular matrix)

88
Q

How does Duchene (X-linked) Muscular Dystrophy present

A

Proximal muscle weakness at 1 year of age. It progresses to involve distal muscles. Calf pseudohypertrophy is a characteristic finding. Creatinine kinase is elevated

89
Q

What causes death in X-linked Muscular Dystrophy

A

Cardiac or respiratory failure (myocardium is commonly involved in the disease)

90
Q

What is Becker Muscular Dystrophy

A

Clinically milder disease than Duchene Muscular Dystrophy. It differs from Duchene Muscular Dystrophy in that it is caused by a mutation in Dystrophin rather than a deletion

91
Q

Name this condition: Autoantibody to acetylcholine receptors at the neuromuscular junction that competitively inhibits the binding of acetylcholine. Symptoms improve with administration of acetylcholinesterase inhibitors

A

Myasthenia Gravis

92
Q

How does Myasthenia Gravis present

A

Muscle weaknes that worsens with use and improves with rest. It classically involves the eyes and leads to ptosis and diplopia

93
Q

What is Myasthenia Gravis highly associated with

A

Thymic hyperplasia and thymoma (removal of the thymus improves symptoms)

94
Q

Name this condition: Antibodies against presynaptic calcium channels at the neuromuscular junction. It arises as a paraneoplastic syndrome and leads to impaired Ach release

A

Lambert-Eaton Syndrome

95
Q

Lambert-Eaton Syndrome arises as a paraneoplastic syndrome most commonly of what cancer

A

Most commonly due to small cell carcinoma

96
Q

How does Lambert-Eaton Syndrome present

A

Proximal muscle weakness (sparing the eyes) that improves with use. Symptoms are not improved by acetylcholinesterase inhibitors. It resolves with resection of cancer

97
Q

What is the most common benign soft tissue tumor in adults

A

Lipoma (benign tumor of adipose tissue)

98
Q

What is the most common malignant soft tissue tumor in adults

A

Liposarcoma (Malignant tumor of adipose tissue, characterized by lipoblasts)

99
Q

What is the most common malignant soft tissue tumor in children

A

Rhabdomyosarcoma

100
Q

What is a Rhabdomyoma

A

Benign tumor of skeletal muscle

101
Q

Cardiac Rhabdomyoma is associated with what

A

Tuberous Sclerosis

102
Q

What is a Rhabdomyosarcoma

A

Malignant tumor of skeletal muscle (Rhabdomyoblast is the characteristic cell. It is desmin+)

103
Q

What is the most common site of a Rhabdoyosarcoma

A

Head and neck (vagina is a classic site in young girls around age 5)

104
Q

What percent of the body’s stores of Ca, P, Na, and Mg is stored in the bone

A

99%, 85%, 65% and 65% respectively

105
Q

What type of collagen is the main component of bone

A

Type I collagen

106
Q

What type of bone is always pathologic when seen in adults

A

Woven bone

107
Q

What is appositional bone growth

A

Widening of the bone

108
Q

This form of dwarfism is caused by a missense mutation in FGFR and is usually lethal due to respiratory insufficiency. It is characterized by more severe limb shortening and shortened axial skeleton

A

Thanatomorphic Dwarfism

109
Q

Name this condition: Erlenmeyer Flask Deformity

A

Osteopetrosis

110
Q

Name this condition: “Prominent cement lines” or mosaic appearance of bone

A

Paget Disease

111
Q

What are Brown Tumors and what are they a result of

A

Reactive fibrous tissue, hemorrhage and hemosiderin. They are a result of Hyperparathyroidism

112
Q

Name this condition: Phosphates are retained (due to decreased excretion of phosphate by the damaged kidney) and calcium is excreted leading to high phosphate levels and low Ca and Vitamin D levels. This results in secondary hyperparathyroidism and increased osteoclast activity

A

Renal Osteodystrophy

113
Q

What is an incomplete fracture called

A

Greenstick fracture

114
Q

What is a comminuted fracture

A

It is a complicated fracture (bone has broken into multiple pieces). It takes longer to heal

115
Q

What is a displaced fracture

A

A fracture where the two broken ends are not aligned

116
Q

What is the procallus

A

The soft tissue swelling around the ends of the broken bone that is in the early process of healing. It is composed of hematoma, fibrin mesh, fibroblasts, and capillaries

117
Q

What is the bony callus

A

The second stage of bone healing (follows the procallus). It is composed of woven bone, and cartilage, and undergoes endochondral ossification.

118
Q

Name this tumor: Mostly in skull or facial bones, usually solitary, usually in middle-aged adults. It resembles woven and lamellar bone (resembles reactive bone). Usually slow growth, and no malignant transformation

A

Osteoma

119
Q

Name this condition: Multiple osteomas, GI adenomas, epidermal cysts, fibromatosis

A

Gardner Syndrome

120
Q

Benign tumors with identical histology. Well circumscribed. Actual tumor is small central round radiolucency with variable mineralization. Interconnecting trabeculae of woven bone with osteoblastic rimming. Marrow space is filled with loose connective tissue.

A

Osteoid Osteoma and Osteoblastoma

121
Q

How do you differentiate Osteoid Osteoma and Osteoblastoma

A

Osteoid Osteoma has marked surrounding reaction, is <2cm, causes severe night pain relieved by aspirin, and affects appendicular skeleton. Osteoblastoma has none of these features

122
Q

Name this tumor: Malignant cells produce bone matrix. Bimodal age distribution with large peak

A

Osteosarcoma

123
Q

Name this tumor: benign, polypoid cartilage-cap on top of a bony stalk. It is an out growth of the growth plate and can only occur in endochondral bone

A

Osteochondroma

124
Q

Name this tumor: Benign tumors of hyaline cartilage and are the most common intraosseous cartilage tumor. Most frequent in the 20s-40s. Usually solitary

A

Enchondroma

125
Q

This tumor occurs in the epiphysis and apophysis. Chicken wire calcification

A

Chondroblastoma

126
Q

Rarest cartilage tumor, seen in teens and 20s (more common in men). It occurs in the metaphysis of long bones. Nodules of poorly formed hyaline cartilage and fibrous myxoid tissue with fibrous septae

A

Chondromyxoid Fibroma

126
Q

Name this tumor: Half as frequent as osteosarcoma. Patients in their 40s or older. More common in males. Central skeleton (pelvis, shoulder, ribs), rare in the distal extremities

A

Chondrosarcoma

127
Q

Name this subtype of chondrosarcoma: Sheets of large malignant chondrocytes with abundant clear cytoplasm. Numerous osteoclast-type giant cells. Intralesional reactive bone formation

A

Clear Cell Chondrosarcoma

128
Q

Name this subtype of chondrosarcoma: Islands of well differentiated hyaline cartilage surrounded by sheets of small round cells

A

Mesenchymal Chondrosarcoma

129
Q

Which muscle fiber type is rich in oxidative enzymes and are involved in tonic contractions (slow contractions over a long period of time such as postural muscles)

A

Type I fibers

130
Q

Which muscle fiber type is rich in glycolytic enzymes and are known as fast twitch muscle

A

Type II fibers

131
Q

What causes this pattern of weakness: Hypertonia, Hyperreflexia, babinski sign

A

Upper motor neuron disease

132
Q

What causes this pattern of weakness: Hypotonia, Hyporeflexia, No babinski

A

Lower motor neuron disease

133
Q

What causes this pattern of weakness: Altered by rapid stimulation

A

Neuromuscular junction disease

134
Q 
This is a group of autosomal recessive motor neuron diseases. Chromosome 5 locus – deletion or mutation of this gene (survival motor neuron gene) occurs in 90% of the patients. Large numbers of rounded atrophic fibers often involving
whole fascicles (panfascicular atrophy). Scattered very hypertrophic fibers. Differs from typical pattern of neurogenic atrophy seen in adults
A

Spinal Muscular Atrophy (SMA)

135
Q

What is SMA type 1 (onset at birth or within first 4 months of life) called

A

Werdnig-Hoffmann Disease

136
Q

When do SMA 2 and 3 occur

A

Early or later in childhood and they live longer (SMA 3 into adulthood)

137
Q

When does Amyotrophic Lateral Sclerosis occur and what are the symptoms

A 
5th decade or later
− Weakness
− Spasticity of arms and legs
− Diminished muscle bulk
− Fasciculations
− Respiratory failure
138
Q

Name this condition: Degeneration of both upper and lower motor neurons. Atrophy of the anterior (motor) spinal roots of lower cervical spinal cord due to anterior horn cell loss. Degeneration of anterior and lateral corticospinal tracts (loss o f myelin and axons). Neurogenic atrophy of skeletal muscle

A

Amyotrophic Lateral Sclerosis

139
Q

What is the most common lethal pediatric disorder and when does death occur

A

Duchene Muscular Dystrophy. Death in 20s

140
Q

Name the Autosomal Muscular Dystrophies

A

Limb Girdle Muscular Dystrophy and Myotonic Dystrophy

141
Q

This disorder affects the proximal musculature of the trunk and limbs and is inherited in an autosomal dominant or recessive manner as a mutation in the genes for dystrophin-associated glycoproteins

A

Limb Girdle Muscular Dystrophy

142
Q

This disorder is autosomal dominant (gene is for myotonin protein kinase on Chromosome 19) and displays anticipation. Clinical features include myotonia (slow relaxation of the muscles after voluntary contraction or electrical stimulation), and late childhood onset with weakness of foot dorsiflexors. Increased numbers of internal nuclei on morphology

A

Myotonic Dystrophy

143
Q

This condition causes symmetric proximal weakness in adults with no rash. It is due to auto-reactive antibodies and can involve other organs (herat, lungs, and blood vessels). Biopsy shows endomysial and perimysial inflammation. It usually responds to immunosuppressive therapy

A

Polymyositis

144
Q

This condition causes symmetric proximal weakness in adults and children with a characteristic rash involving the eyelids. Biopsy shows perifasicular atrophy and endomysial and perimysial inflammation. It usually responds to immunosuppressive therapy

A

Dermatomyositis

145
Q

This disorder causes distal weakness, especially in the hand flexors. It occurs in adults with no rash and can be familial in some cases. It presents with inflammation, chronic myopathic changes, and Gomori trichome stain shows “rimmed vacuoles” within muscle fibers. It usually does not respond to immunotherapy

A

Inclusion Body Myositis

146
Q

What is the 2nd most common bone sarcoma in children (after Osteosarcoma)

A

Ewing Sarcoma/Primitive Neuroectodermal Tumor

147
Q

What is the difference between Ewing Sarcoma and Primitive Neuroectodermal Tumor

A

Ewing Sarcoma is undifferentiated. Primitive Neuroectodermal Tumor has neural differentiation

148
Q

Name this condition: A relatively uncommon tumor of the bone. It is characterized by the presence of multinucleated giant cells (osteoclast-like cells). Malignancy in giant cell tumor is not common. However, if malignant degeneration does occur it is likely to metastasize to the lungs. It occurs in the metaphysis in adolescents and the metaphysis or epiphysis in adults. Normally benign, with unpredictable behavior

A

Giant Cell Tumor of Bone

149
Q
  • Caused by enlargement of the extraocular muscles
  • Accumulation of extracellular matrix proteins
  • Often independent of the status of thyroid dysfunction
  • Smoking greatly increases risk of this
A

Thyroid Opthalmopathy

150
Q

What is the most common malignancy of the eyelid

A

Basal cell carcinoma

151
Q

What structure is composed of Collagen, blood vessels, and fibroblasts. Wound healing is poor

A

Sclera (White of the eye)

152
Q

What are the 5 layers of the cornea

A 
–Epithelium
–Bowman’s Layer
–Stroma
–Descemet’s Membrane
–Endothelium
153
Q

What is the most common viral cause of keratitis

A

HSV

154
Q

Ectasia (bulging of the cornea) usually bilaterally. Unknown pathogenesis but associated with eye rubbing

A

Keratoconus (Center of the cornea gets thin and bows out)

155
Q

Inner layer (endothelial layer) of the cornea dies for some reason. It usually affects both eyes and is slightly more common in women than in men

A

Fuchs’ Dystrophy

156
Q

What structure is bounded anteriorly by the cornea, laterally by the trabecular meshwork, and posteriorly by the iris

A

Anterior Chamber

157
Q

What structure is a smaller space between ciliary body, lens, & iris

A

Posterior Chamber

158
Q

Several diseases with the common end-point of an optic neuropathy. Usually characterized by high intraocular pressure but not always

A

Glaucoma

159
Q

What are the 3 main categories of glaucoma

A

Open angle, closed angle, and congenital/juvenile glaucoma

160
Q

What is the most common type of glaucoma

A

Open angle glaucoma

161
Q

Which type of glaucoma is very rare and painful

A

Closed angle glaucoma

162
Q

50% of Uveitis cases have what cause

A

Idiopathic (other cases can be infectious - TB, Syphillis, HZV, Toxoplasmosis; autoimmune - HLA-B27)

163
Q

What is the most common primary intraocular malignancy

A

Uveal Melanoma (most commonly in choroid but can affect iris or ciliary body too)

164
Q

Which cell type of Uveal Melanoma has the better and which has the worse prognosis

A

Spindle = better, Epithelioid = worse

165
Q

Usually affects older adults and results in a loss of vision in the center of the visual field (the macula) because of damage to the retina. It occurs in “dry” and “wet” forms.

A

Macular Degeneration

166
Q

What is the most common malignant eye tumor of children

A

Retinoblastoma

167
Q

Where does the optic nerve relay its information

A

The lateral Geniculate Nucleus

168
Q

Differentiate Fibrous Cortical Defect and Nonossifying Fibroma

A

Bibrous Cortical Defect = very common, 30-50% of children >2, distal femur or proximal tibia, small (about .5 cm)
- Nonossifying Fibroma = Larger (5-6 cm) usually not detected until adolescence

169
Q

Benign tumor-like lesion, local arrest of development (all components present but not mature). Radiograph shows well-defined margin with ground glass appearance

A

Fibrous Dysplasia

170
Q

Name the 3 types of Fibrous Dysplasia and how common they are

A

Monostotic (70%), Polystotic (27%), Polystotic with Cafe-au-lait spots and endocrinopathies (also called McCune-Albright Syndrome, 3%)

171
Q

Name this type of Fibrous Dysplasia: Equal in boys and girls, stops growing when growth plate closes, ribs>femur>tibia>jaw, usually asymptomatic, craniofacial disease can cause deformity

A

Monostotic

172
Q

Name this type of Fibrous Dysplasia: Starts earlier, lasts longer, femur>skull>tibia>humerus, 50-100% craniofacial, shoulder and pelvic girdle abnormalities, spontaneous fractures

A

Polystotic

173
Q

Name this type of Fibrous Dysplasia: Bone and skin lesions often unilaterally, somatic mutation in guanine nucleotide binding protein

A

Polystotic with Cafe-au-lait spots and endocrinopathies (also called McCune-Albright Syndrome)

174
Q

What differentiates Fibrous Dysplasia from osteoblastoma and osteoid osteoma

A

No osteoblastic rimming (it is well circumscribed, intramedullary, and variable in size. Tissue is tan-white and gritty. It is curvilinear trabeculae of woven bone with surrounding fibroblast proliferation)

175
Q

Clinical presentation: Painful, enlarging mass with tenderness, warmth and swelling. Some systemic signs such as fever, anemia, leukocytosis, elevated ESR. 75% fiver year survival

A

Ewing Sarcoma/Primitive Neuroectodermal Tumor

176
Q

Name this tumor: Benign bone tumor of all ages (mostly <30), males and females equally, occurs in the metaphysis of long bones, eccentric expansile lytic lesion, CT/MRI show septations

A

Aneurysmal Bone Cyst

177
Q

What type of collagen is hyaline cartilage mostly composed of

A

Type II collagen (type I is bone)

178
Q

What is the synovial membrane composed of

A

Cuboidal cells (1-4 cells thick) and no basement membrane.

179
Q

Which nerve is usualy used for biopsy (H&E staining, Epoxy resin, Teased Fiber)

A

Sural Nerve (Doesnt have a motor component)

180
Q

Name this condition: Chronic disorder with relapsing/remitting disease over many years. Symmetric mixed sensorimotor polyneuropathy. Segmental demyelination/remyelination with onion bulbs

A

Chronic Inflammatory Demyelinating Polyneuropathy (CIDP)

181
Q

Ascending paralysis that presents with distal weakness that progresses rapidly to involve more proximal muscles. It frequently leads to respiratory compromise. CSF with elevated protein without increased cell count. Decreased nerve conduction velocities

A

What is Guillain-Barre Syndrome

182
Q

Name this condition: Presents as a mononeuropathy multiplex. Subacute, asymmetric, sensorimotor polyneuropathy. Limited to nerves or involving additional organs. Classic pathologic finding is fibrinoid necrosis of vessels

A

Vasculitic Neuropathy

MSK (2 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions