Musculo - Pathology Part 1 Flashcards

1
Q

Achondroplasia is an autosomal _____ (dominant/recessive) genetic trait.

A

Dominant

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2
Q

In achondroplasia, the short limbs are a result of the failure of what type of bone growth?

A

Longitudinal bone growth (this type of bone growth accounts for the growth of the long bones in the limbs)

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3
Q

In achondroplasia, _____ (endochondral/membranous) bone growth is not affected.

A

Membranous (this type of bone growth accounts for the formation of the skull, the facial bones, and the axial skeleton)

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4
Q

In achondroplasia, the limbs are shorter than normal, but the _____ and _____ are normal.

A

Head; trunk

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5
Q

Achondroplasia represents a failure of cartilage maturation resulting from a mutation in what receptor?

A

Fibroblast growth factor receptor

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6
Q

Individuals with achondroplasia have _____ (normal/decreased) life span and fertility.

A

Normal

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7
Q

True or False? Achondroplasia is associated with advanced paternal age.

A

True

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8
Q

A reduction in bone mass despite normal bone mineralization is a description of what disease?

A

Osteoporosis

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9
Q

What is type I osteoporosis?

A

Increased bone resorption as a result of decreased estrogen levels

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10
Q

Which therapy for osteoporosis is considered controversial due to risk of serious side effects?

A

Estrogen replacement therapy

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11
Q

What is type II osteoporosis?

A

Senile osteoporosis; affects men and women older than 70 years of age

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12
Q

Which upper extremity fracture is commonly seen in patients with osteoporosis?

A

Colles fracture of the distal radius

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13
Q

A known osteoporotic patient presents with acute back pain, loss of height and kyphosis. From what is she suffering?

A

Vertebral crush fractures

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14
Q

Name four treatments for osteoporosis.

A

Estrogen, calcitonin, bisphosphonates, and pulsatile parathyroid hormone

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15
Q

Name two methods of osteoporosis prophylaxis.

A

Exercise and calcium supplementation before age 30 years

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16
Q

A failure of normal bone resorption that leads to thickened, dense bones is a description of which disorder?

A

Osteopetrosis

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17
Q

Osteopetrosis is a bone defect caused by the abnormal function of which cell type?

A

Osteoclasts

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18
Q

In patients with osteopetrosis, is the serum calcium level high, normal, or low?

A

Normal

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19
Q

In patients with osteopetrosis, is the serum phosphate level high, normal, or low?

A

Normal

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20
Q

In patients with osteopetrosis, is the alkaline phosphatase level high, normal, or low?

A

Normal

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21
Q

A genetic deficiency in carbonic anhydrase II leads to what disease?

A

Osteopetrosis

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22
Q

Name three complications of osteopetrosis due to decreased space for bone marrow.

A

Anemia, thrombocytopenia, and infection

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23
Q

What neurologic lesions may result from osteopetrosis?

A

Cranial nerve palsies due to narrowed foramina in the skull

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24
Q

What is the classic x-ray finding in osteopetrosis?

A

Erlenmeyer flask bones that flare out

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25
What is the disorder in which the defective mineralization of osteoid leads to soft bones?
Osteomalacia/rickets
26
Vitamin D deficiency in adults leads to decreased levels of what important element of bone formation?
Calcium
27
A decreased level of calcium leads to increased levels of what hormone?
Parathyroid hormone
28
In osteomalacia/rickets, phosphate levels are _____ (increased/decreased).
Decreased (due to secondary hyperparathyroidism induced by low calcium levels)
29
Vitamin D deficiency in childhood causes what disorder?
Rickets
30
What condition causes osteitis fibrosa cystica?
Hyperparathyroidism
31
In osteitis fibrosa cystica, what are brown tumors?
Cystic spaces lined by osteoclasts that are filled with fibrous stroma or blood
32
In patients with osteitis fibrosa cystica, is the serum calcium level high, low, or normal?
High
33
In patients with osteitis fibrosa cystica, is the serum phosphorus level high, low, or normal?
Low
34
In Pagets disease, is there abnormal activity of osteoblasts, osteoclasts, or both?
There is abnormal activity of both osteoblasts and osteoclasts
35
Which disease of the bone is described as abnormal architecture of the bone which is the result of increased osteoblastic and osteoclastic activity?
Pagets disease
36
An individual experiencing hearing loss and increased hat size may suffer from what disorder?
Pagets disease (hearing loss is a result of auditory foramen narrowing)
37
Patients with Pagets disease are at increased risk of what type of fractures?
Chalk stick fractures of long bones
38
Patients with Pagets disease are at increased risk of what type of cardiac disease?
High-output congestive heart failure (due to increased atrioventricular shunting)
39
Patients with Pagets disease are at increased risk of what type of cancer?
Osteogenic sarcoma
40
In patients with Pagets disease, is the serum calcium level high, low, or normal?
Normal
41
In patients with Pagets disease, is the serum phosphorus level high, low, or normal?
Normal
42
In patients with Pagets disease, is the parathyroid hormone level high, low, or normal?
Normal
43
In patients with Pagets disease, is the serum alkaline phosphatase level high, low, or normal?
High
44
True or False? Osteopetrosis is characterized by elevated calcium.
False; lab values are normal
45
Describe the effect osteopetrosis has on bones.
Bones are thickened and dense
46
In osteomalacia/rickets, serum calcium levels are _____ (increased/decreased), phosphate levels are _____ (increased/decreased) and PTH levels are _____ (increased/decreased).
Decreased; decreased; increased
47
In osteitis fibrosa cystica, serum calcium levels are _____ (increased/decreased); phosphate levels are _____ (increased/decreased); ALP levels are ____ (increased/decreased) and PTH levels are _____ (increased/decreased).
Increased; decreased; increased; increased
48
What lab value is elevated in Pagets disease?
Alkaline phosphatase
49
In polyostotic fibrous dysplasia, bone is replaced by what three substances?
Fibroblasts, collagen, and irregular bony trabeculae
50
Which syndrome is a form of polyostotic fibrous dysplasia characterized by unilateral bone involvement, unilateral coast of Maine spots, and precocious puberty?
McCune-Albright syndrome
51
What is the endocrine abnormality found in patients with McCune-Albright syndrome?
Precocious puberty
52
What are the dermatologic findings in McCune Albright syndrome?
Café-au-lait spots and coast of Maine spots
53
Which benign bone tumor is associated with Gardners syndrome?
Osteoma
54
_____ _____ is a benign bone tumor most common in men <25 years old and most commonly found in the proximal tibia and femur.
Osteoid osteoma
55
Describe the histology of osteoid osteomas.
An osteoid osteoma is composed of interlacing trabeculae of woven bone surrounded by osteoblasts
56
How do osteoblastomas differ from osteoid osteomas?
Although the two have the same morphology, osteoid osteomas are < 2 cm and found in the proximal tibia and femur, whereas osteoblastomas are larger and found in the vertebral column
57
Giant cell tumors have a peak incidence in patients in what age range?
20 to 40 years of age
58
Which bone tumor is described as a locally aggressive benign tumor that is often seen in the distal femur or the proximal tibia?
Giant cell tumor
59
Which primary bone tumor has a characteristic double bubble or soap bubble appearance on x-ray?
Giant cell tumor
60
What is the histopathologic appearance of giant cell tumors?
Spindle-shaped cells and multinucleated giant cells
61
What is another name for giant cell tumor?
Osteoclastoma (not to be confused with osteoblastoma)
62
What is the most common primary benign bone tumor?
Osteochondroma
63
At what age do men usually develop osteochondromas?
When they are < 25 years of age
64
From where do osteochondromas most commonly originate?
Metaphysis of long bones
65
Osteochondromas rarely transform into which type of malignancy?
Chondrosarcoma
66
What is another name for osteochondroma?
Exostosis
67
Histologically, what benign bone tumor can be described as mature bone with a cartilaginous cap?
Osteochondroma (exostosis)
68
What is a benign cartilaginous neoplasm that is found in the intramedullary bone?
Enchondroma
69
Where are enchondromas generally found?
Distal extremities
70
What is the second most common primary malignant bone tumor after multiple myeloma?
Osteosarcoma
71
The incidence of osteosarcoma peaks in males in what age range?
10 to 20 years of age
72
Where are osteosarcomas most commonly found?
In the metaphysis of the long bones, especially around the knee
73
What four factors predispose to osteosarcoma?
Pagets disease of bone, bone infarcts, radiation, and familial retinoblastomas
74
What is Codmans triangle?
X-ray findings of elevation of the periosteum, which is classic for osteosarcoma
75
Which malignant primary bone tumor is described as having anaplastic small blue cells?
Ewings sarcoma
76
Patients of what sex and age are predisposed to Ewings sarcoma?
Males younger than 15 years of age
77
Ewings sarcoma is very aggressive with early _____, but it is responsive to chemotherapy.
Metastases
78
What is the classic radiographic appearance of bone in Ewings sarcoma?
It has an onion-skin appearance
79
Where are the four most common sites of Ewings sarcoma?
The diaphysis of the long bones, the pelvis, the scapula, and the ribs
80
What genetic change is associated with Ewings sarcoma?
11;22 Translocation
81
What is the name of a malignant cartilaginous tumor?
Chondrosarcoma
82
Chondrosarcomas are most common among men who are between what ages?
30 to 60 years of age
83
Where are chondrosarcomas usually located?
In the pelvis, spine, scapula, humerus, tibia, and femur
84
A chondrosarcoma may be of primary origin or may occur as a result of what?
An osteochondroma with malignant transformation
85
How does a chondrosarcoma look on gross exam?
As an expansile glistening mass within the medullary cavity
86
Benign _____ and malignant _____ are found in the intramedullary part of bone.
Enchondromas; chondrosarcomas
87
Benign _____ _____ and malignant _____ _____ are found in the diaphysis of bone.
Osteoid osteomas; Ewings sarcoma
88
Osteoclastomas (giant cell tumors) are found in the _____ (epiphysis/metaphysis/diaphysis/intramedullary) part of long bones.
Epiphysis
89
Benign _____ and malignant _____ are found in the metaphysis of bone.
Osteochondromas; osteosarcomas
90
Soap bubble tumors are also known as?
Giant cell tumor
91
Which type of tumor causes the formation of Codmans triangle?
Osteosarcoma
92
In osteoarthritis, the wear and tear of joints leads to the destruction of what?
Articular cartilage
93
What are Heberdens nodes?
Calcific spurs of the articular cartilage at the distal interphalangeal joint characteristic of osteoarthritis
94
What are Bouchards nodes?
Calcific spurs of the articular cartilage at the proximal interphalangeal joint
95
Pain in weight-bearing joints after use that improves with rest is a classic presentation of which type of arthritis?
Osteoarthritis
96
Systemic symptoms such as fever and malaise are _____ (present/absent) in osteoarthritis.
Absent; osteoarthritis is not associated with systemic symptoms
97
What pathologic changes of bone are found in osteoarthritis?
Histologically, subchondral cysts, sclerosis, thickened capsule, and slight synovial hypertrophy are found in osteoarthritis
98
Name three risk factors for the development of osteoarthritis.
Age, obesity, and joint deformity
99
In osteoarthritis of the knees, cartilage loss begins where, leading to what finding?
Medial aspect of the knee, leading to a bowlegged appearance
100
What kind of problem is rheumatoid arthritis: mechanical or autoimmune?
Autoimmune
101
_____ deviation of the fingers is associated with rheumatoid arthritis.
Ulnar
102
What dermatologic finding is seen in rheumatoid arthritis?
Subcutaneous nodules
103
What joint finding is pathognomonic in rheumatoid arthritis?
Pannus formation in the joints
104
In the hand, which two joints are most affected in rheumatoid arthritis?
Metacarpophalangeal and proximal interphalangeal joints
105
Which type of joint is affected by rheumatoid arthritis?
Synovial joints
106
Is rheumatoid arthritis more prevalent in males or females?
Females
107
Eighty percent of patients with rheumatoid arthritis have what serologic finding?
Rheumatoid factor (anti-immunoglobulin G antibodies)
108
Rheumatoid factor is an antibody against what type of molecule?
Immunoglobulin G
109
Do the symptoms of rheumatoid arthritis improve or worsen with use?
Morning stiffness is associated with rheumatoid arthritis and improves with use
110
Is the joint involvement in rheumatoid arthritis unilateral or symmetric?
Symmetric
111
Rheumatoid arthritis is characterized by what symptoms other than arthritis?
Morning stiffness improving with use, symmetric joint involvement, and systemic symptoms (fever, fatigue, pleuritis, pericarditis)
112
What are the histologic findings in rheumatoid arthritis?
Bone and cartilage erosion, increased synovial fluid, and pannus formation
113
What physical exam finding is characterized by flexed distal interphalangeal joints and overextended proximal interphalangeal joints?
Swan-neck deformity
114
What physical exam finding is characterized by overextended distal interphalangeal joints and flexed proximal interphalangeal joints?
Boutonniere deformity
115
Rheumatoid arthritis has a strong association with which human leukocyte antigen complex?
Human leukocyte antigen DR4
116
Name the finger joint spared in rheumatoid arthritis.
Distal interphalangeal joints
117
_____ cysts are associated with rheumatoid arthritis.
Bakers cysts, which are located behind the knee
118
What serologic test is less sensitive but more specific for rheumatoid arthritis than rheumatoid factor?
Anticyclic citrullinated peptide
119
sjögrens syndrome is characterized by which triad of signs and symptoms?
Xerophthalmia (dry eyes and conjunctivitis), xerostomia (dry mouth and dysphagia), and arthritis
120
Individuals with sjögrens syndrome have an increased risk of what type of cancer?
B-cell lymphoma
121
Which serologic findings are characteristic of sjögrens syndrome?
Antiribonucleoprotein antibodies; also known as anti-Ro and anti-La or SS-A and SS-B
122
sjögrens syndrome typically affects which demographic?
Females 40 to 60 years of age
123
A 55-year-old woman complains of a myriad of symptoms including dry eyes, dry mouth, nasal and vaginal dryness, chronic bronchitis, and reflux esophagitis. She denies any arthritic symptoms. What diagnosis can explain this constellation of symptoms?
Sicca syndrome
124
Individuals with sjögrens syndrome are at increased risk for which dental condition?
Caries, due to decreased production of saliva
125
Gout occurs from the precipitation of _____ _____ crystals into the joints as a result of hyperuricemia.
Monosodium urate
126
Thiazide diuretics inhibit the excretion of _____ _____, leading to increased risk of gout.
Uric acid
127
Are joints affected by gout in a symmetric or asymmetric pattern?
Asymmetric
128
What is the name of the painful metatarsophalangeal joint found in the big toe of a patient with gout?
Podagra
129
In patients with gout, tophi often form on which areas of the body?
External ear, olecranon bursa, Achilles tendon
130
The crystals in gout are _____ (positively/negatively) birefringent and _____ (needle/rhomboid)-shaped.
Negatively; needle
131
Is gout more common in men or women?
Men
132
What are two common triggers of acute gout?
Consumption of alcohol (alcohol metabolites compete with uric acid for excretion sites in kidney, causing reduced uric acid secretion and buildup in blood) or a large meal
133
Name four treatments for gout.
Allopurinol, probenecid, colchicine, and nonsteroidal antiinflammatory drugs
134
Which inborn errors of metabolism can predispose to gout?
Lesch Nyhan and Von Gierkes disease
135
Pseudogout is caused by the deposition of _____ _____ crystals within the joint space.
Calcium pyrophosphate
136
In pseudogout, are the crystals positively or negatively birefringent?
Weakly positively birefringent
137
Pseudogout tends to affect people who are more than ____ years old.
50
138
Are men or women more affected by pseudogout?
Both are equally affected
139
While in gout crystals are yellow when _____ (perpendicular/parallel) to the light of the microscope, in pseudogout crystals are yellow when _____ (perpendicular/parallel) to the light of the microscope.
Parallel; perpendicular
140
Pseudogout tends to affect predominantly the _____ (large/small) joints.
Pseudogout affects large joints (classically the knee)
141
Name three organisms that commonly cause septic arthritis.
Staphylococcus aureus, Streptococcus, and Neisseria gonorrhoeae
142
Which organism is a common cause of septic arthritis leading to red and painful joints presenting in a monoarticular, migratory, asymmetric pattern?
Neisseria gonorrhoeae (remember: STD= Synovitis (eg, knee), Tenosynovitis (eg, hand), and Dermatitis (eg, pustules)
143
Name two diseases that can cause chronic infectious arthritis.
Tuberculosis and Lyme disease
144
Seronegative spondyloarthropathies are a form of autoimmune arthritis that occurs without a positive _____ _____ in the blood.
Rheumatoid factor
145
In seronegative spondyloarthropathies, there is a strong association with which human leukocyte antigen?
Human leukocyte antigen B27
146
Do seronegative spondyloarthropathies affect more men or more women?
Men
147
What is the classic triad of clinical signs and symptoms in ankylosing spondylitis?
Ankylosis (stiff spine), uveitis, and aortic regurgitation
148
What is the classic triad of clinical signs and symptoms in Reiters syndrome?
Urethritis, ophthalmologic findings (conjunctivitis and anterior uveitis), and arthritis (remember: Cant see, cant pee, cant climb a tree)
149
What are two triggers for Reiters syndrome?
Gastrointestinal infection and chlamydial infection
150
The physical exam finding of dactylitis (sausage fingers) and radiologic finding of pencil-in-cup deformity are associated with which type of arthritis?
Psoriatic arthritis
151
True or False? Most individuals with psoriasis are affected with psoriatic arthritis as well.
False; fewer than one third of patients with psoriasis are affected by psoriatic arthritis
152
Psoriatic arthritis commonly presents in a(n) _____ (symmetric/asymmetric) pattern.
Asymmetric and patchy involvement
153
A woman has a rash on her cheeks that involves the bridge of the nose but spares the area below the nasolabial sulcus. What is the name of this rash, and what disease is it most commonly associated with?
Malar rash; systemic lupus erythematosus
154
Which demographic is most commonly affected by lupus?
Females 14 to 45 years of age
155
Systemic lupus erythematosus is most common and severe in which ethnic group: whites, African-Americans, or Asians?
African-Americans
156
Which form of endocarditis is associated with systemic lupus erythematosus?
Nonbacterial verrucous endocarditis
157
What abnormal finding could a patient with systemic lupus erythematosus have on chest x-ray?
Hilar adenopathy
158
True or False? Raynauds phenomenon is associated with systemic lupus erythematosus.
True
159
What is the histopathologic appearance of renal disease in systemic lupus erythematosus?
Wire loop lesions, due to immune complex deposition in the glomeruli
160
What are two common causes of death in patients with systemic lupus erythematosus?
Renal failure and infection
161
Patients with systemic lupus erythematosus may be falsely diagnosed with which disease based on serologic testing?
False-positive rapid plasma reagin or venereal disease research laboratory tests for syphilis occur as a result of the presence of antiphospholipid antibodies
162
What are the eleven findings used to make a clinical diagnosis of systemic lupus erythematosus?
For the characteristics of systemic lupus erythematosus remember IM DAMN SHARP: Immunoglobulins (anti-double-stranded DNA, anti-Smith, antiphospholipid), Malar rash, Discoid rash, Antinuclear antibody, Mucositis (oropharyngeal ulcers), Neurologic disorders, Serositis (pleuritis, pericarditis), Hematologic disorders, Arthritis, Renal disorders, Photosensitivity
163
In false-positive rapid plasma reagin or venereal disease research laboratory syphilis tests, the antiphospholipid antibody cross-reacts with what substance?
Cardiolipin
164
Which serologic findings (antibodies) can be positive in patients with lupus?
Antinuclear antibodies, anti-double-stranded DNA, anti-Smith antibodies, and antihistone antibodies
165
Serositis in systemic lupus erythematosus refers to inflammation of which membranes?
Pleuritis and pericarditis
166
In patients with drug-induced lupus, which antibodies are detected?
Anti-histone antibodies
167
Which antibody is specific for lupus but is not prognostic?
Anti-Smith antibodies
168
Which antibody is specific for lupus and predicts a poor prognosis?
Anti-double-stranded DNA
169
Which antibody is sensitive for lupus but is not specific?
Anti-nuclear antibodies
170
In which diseases can a positive antinuclear antibody result be found on serologic testing?
Systemic lupus erythematosus, sjögrens syndrome (and sicca), and scleroderma
171
What specific population is most affected by sarcoidosis?
African-American females
172
What is the underlying pathology in sarcoidosis?
Widespread noncaseating granulomas
173
What enzyme levels are elevated in the serum in patients with sarcoidosis?
Serum angiotensin-converting enzyme levels
174
What type of lung disease is associated with sarcoidosis: obstructive or restrictive?
Restrictive
175
What type of lymphadenopathy is associated with sarcoidosis?
Bilateral hilar lymphadenopathy
176
What type of skin pathology is associated with sarcoidosis?
Erythema nodosum
177
What is a common finding on the chest x-ray of a patient with sarcoid?
Bells palsy
178
What two histopathologic findings are seen in the epithelial granulomas of sarcoidosis?
Schaumann bodies and asteroid bodies
179
Inflammation of which structures of the head is seen in sarcoidosis?
Ocular and parotid gland inflammation