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					1) A 25-year-old man presents for a routine physical examination. The patient is tall (6 feet, 5
inches) and has long fingers. One year later he suffers a dissecting aortic aneurysm. This patient
carries a mutation in a gene that encodes which of the following proteins?

A) Collagen
B) Fibrillin
B) Myosin
D) Elastin
E) Dystrophin

2) All of the following clinical findings are characteristic of the condition described in Question
1 except:

A) Dolichostenomelia
B) Ectopia lentis
C) Mitral valve prolapse
D) Mental retardation
E) Aortic root dilatation

3) The genetic disease encountered in the patient described in Question 1 follows which of the
following patterns of inheritance?

A) Autosomal dominant
B) Autosomal recessive
C) Multifactorial
D) X-linked dominant
E) X-linked recessive

4) The postmortem examination of the patient described in Question 1 revealed a tear across the
aortic wall 2 cm distal to the aortic valve and hemopericardium. The microscopic examination of
an aortic wall sample will most likely reveal:

A) Granulomatous inflammation
B) Fibrinoid necrosis
C) Elastic fiber fragmentation
D) Thrombosis of the lumen with microabscesses
E) None of the above

5) A 4-year-old boy is found to have extremely pliable skin. His parents note that he bruises
easily. His joints can be hyperextended. Biochemical studies would most likely reveal
abnormalities associated with which of the following cell/tissue components?
A) Mitochondria
B) Intermediate filaments
C) Collagen fibers
D) Elastic fibers
E) Actin-myosin filaments



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6) Which of the following types of the condition described in Question 5 is associated with a
shortened life expectancy from spontaneous vascular rupture, gastrointestinal tract rupture or
both?

A) Type I
B) Type II
C) Type III
D) Type IV
E) Type V

7) A 4-year-old boy suffers from chronic infections and dies of intractable chronic anemia. At
autopsy, his bones are dense and misshapen. The pelvic bones in particular show obliteration of
the marrow space by disorganized bony trabeculae. Hematopoietic bone marrow cells are sparse.
Which of the following is the most likely diagnosis?

A) Paget disease of bone
B) Ollier disease
C) Pure red cell aplasia
D) Aplastic anemia
E) Osteopetrosis

8) Which of the following mechanisms is most likely involved in the pathogenesis of the lesions
described in Question 7?

A) Osteoblast failure
B) Benign neoplastic process
C) Injury to stem cells in utero
D) Immune dysfunction
E) Osteoclast failure

9) A 30-year-old man with dwarfism is admitted to the hospital for hip replacement due to
osteoarthritis. He has short arms and legs and a relatively large head. His parents do not show
signs of this congenital disease. Which of the following conditions is he most likely to have?

A) Thanatophoric dysplasia
B) Achondroplasia
C) Osteogenesis imperfecta type I
D) Pager disease of bone
E) Albers-Schonberg disease




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10) The patient described in Question 9 most likely has a spontaneous mutation in the gene
encoding for which of the following proteins?

A) Collagen type I
B) Collagen type III
C) Fibrillin
D) Fibroblast growth factor receptor
E) ATP-binding cassette transporter C6

11) A 2-year-old boy is treated for recurrent fractures of his long bones. Physical examination
reveals blue sclerae, loose joints, abnormal teeth and poor hearing. The most likely explanation
for these findings is:

A) Osteoporosis
B) Osteogenesis imperfecta
C) Child abuse
D) Osteopetrosis
E) Achondroplasia

12) A mutation in which of the following genes us the most likely explanation of the findings
described in Question 11?

A) Fibrillin
B) Fibroblast growth factor receptor
C) ATP-binding cassette transporter C6
D) Collagen type I
E) Collagen type V

13) Which of the following is a recognized manifestation of the condition described in Question
11?

A) Wormian bones
B) Diffuse bone sclerosis on x-rays
B) Both A and B
C) Neither A nor B

14) Which is the mildest clinical form of the condition described in Question 11?

A) Type I
B) Type II
C) Type III
D) Type IV
E) None of the above




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15) A 50-year-old man living in England was admitted to the ER with resting chest pain. He has
had exercise chest pain for the past 6 months. The physical examination did not reveal any
abnormalities. On the ECG, all chest derivations showed ST segment depression and T wave
negativities. CK-MB and troponin T values were found to be normal. In the posteroanterior and
lateral chest x-rays, the sternum showed increased density. Sternal thickness was 4 cm at the
manumbrium. At the angiography, three-vessel disease was diagnosed and an elective aorta
coronary bypass graft operation was planned. Under general anesthesia, following the midsternal
skin incision, the sternum was reached. An excessive thickness was detected on the bone,
especially at the manumbrium. The routine sternotomy process with the sternal saw performed
from the manumbrium and xiphoid ends failed twice. The sternal saw did not work because of
the stiffness of the sternum. The sternotomy process was finally completed with Lebsche sternal
knife, lasting almost an hour. The sternal thickness was measured as 4 cm at the manumbrium.
Bone samples from different parts of the sternum were collected for pathologic examination. The
bypasses of the coronary arteries were performed with saphenous vein grafts. The sternum was
closed with steel wires. At the 7th postoperative day the patient was discharged from the hospital.
The pathologic examination of the sternal fragments revealed a mosaic pattern with prominent
cement lines and increased osteoblastic activity. The medullary spaces were diminished with
poor demarcation between cortex and medulla. Which of the following is the most likely to
explain the sternal findings of this patient?

A) Osteopetrosis
B) Osteosarcoma (osteoblastic form)
C) Osteomalacia
D) Osteoblastic metastases from carcinoma of the prostate
E) Paget disease of bone

16) Clinical presentation of the condition described in Question 15 may be variable but most
often is asymptomatic. When symptoms appear, the most common complaint is:

A) Bone pain
B) Fractures
C) Bowing of the long bones
D) Hearing loss
E) Secondary osteoarthritis

17) The condition described in Question 15 is common in all the following countries except:

A) China
B) Germany
C) France
D) England
E) Australia




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18) The patient described in Question 15 is at increased risk for developing which of the
following diseases?

A) Renal stones
B) Amyloidosis
C) Osteosarcoma
D) Pulmonary embolism
E) Fracture of the cervical spine

19) Genetically engineered mice were produced in the Centre for Gene Therapy by inactivating
both alleles of type II collagen gene. The genotype of the newborn mice was verified by a
polymerase chain reaction. After weaning, knockout and control mice were followed up for 28
days to evaluate for any evidence of abnormalities. The knockout mice displayed phenotypic
abnormalities that were most likely located at which of the following organs/tissues?

A) Skin
B) Bones
C) Articular cartilage
D) Dentin
E) Blood vessels

20) A 90-year-old man presented with a 2-year-history of progressive dysphagia. He was on a
liquid diet because he was unable to swallow solids. He had lost significant amount of weight
during the previous 2 years. Fiberoptic laryngoscopy examination revealed a retropharyngeal
mass bulging from the posterior hypopharyngeal wall. There was pooling of saliva in both
pyriform sinuses but the pharyngeal mucosa appeared normal. A cervical computed tomography
scan revealed severe lesions of the cervical spine. Intervertebral disc height was decreased and
disc space was reduced from C3 to C7. Large marginal osteophytes were observed arising from
the vertebral body endplates and from the apophyseal (faced) joints. Dynamic videofluoroscopy
identified a huge, beak-shaped osteophyte arising from the anterior vertebral body of C3 that
displaced the pharyngeal lumen anteriorly. The patient declined neurosurgical referral. Which of
the following is most likely to explain the cervical spine manifestations of this patient?

A) Osteoarthritis
B) Spondylosis
C) Both A and B
C) Neither A nor B




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21) A 50-year-old woman presents with lower back pain of 3 weeks’ duration. Radiologic
studies reveal severe discrete lytic lesions in the lumbar vertebrae and pelvis. Laboratory studies
show elevated serum levels of alkaline phosphatase. Serum calcium, serum protein and
peripheral blood smears are normal. Aspiration biopsy of a pelvic lesion shows keratin-positive
cells. Which of the following is the most likely diagnosis?

A) Multiple myeloma
B) Metastatic carcinoma
C) Osteosarcoma
D) Osteochondroma
E) Chondrosarcoma

22) Which of the following cells is responsible for the bone destruction (lytic lesions) in the
patient described in Question 21?

A) Plasma cells
B) Carcinoma cells
C) Osteoclast
D) Chondroblasts
E) Chondrocytes

23) The bone destruction described in Question 21 is mediated by which of the following
factors?

A) Caspases
B) Transforming growth factor
C) Parathyroid hormone
D) Insulin growth factor
E) RANKL

24) An 18-year-old man presents with bone pain about his knee that he had for 6 weeks.
Radiologic studies reveal a lytic lesion of the distal end of the femur, which arises in the
metaphysic, extends into the proximal diaphysis and elevates the periosteum. The lesion is
removed and the histological examination reveals atypical spindle-shaped cells that produce
osteoid. Based upon the history, physical examination and biopsy results, the most likely
diagnosis is:

A) Osteoma
B) Osteochondroma
C) Osteosarcoma
D) Myositis ossificans
E) Metastatic bone disease




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25) Molecular studies of the tumor described in Question 24 would most likely reveal a mutation
in the gene encoding which of the following proteins?

A) Cyclin a
B) Cyclin b
C) Fibroblast growth factor receptor
D) ATP binding cassette transporter C6
E) Rb tumor suppressor protein

26) A 50-year-old man presents with a 2-day-history of left leg pain. His temperature is 38.7°C
(103°F). He has a harsh systolic murmur and echocardiographic evidence of infective
endocarditis. If this patient has developed hematogenous osteomyelitis, his bone infection would
most likely be found in which of the following anatomic locations?

A) Body of a flat bone
B) Diaphysis of a long bone
C) Epiphysis of a long bone
D) Metaphysis of a long bone
E) Periosteum of a long bone

27) Which of the following bacteria is the most likely to be responsible for the bone infection
described in Question 26?

A) Staphylococcus aureus
B) Escherichia coli
C) Pseudomonas aeruginosa
D) Streptococcus pyogenes
E) Salmonella enteritidis

28) All of the following correctly characterize the laboratory and imaging findings of acute
hematogeous osteomyelitis except:

A) Leukocytosis with a left shift
B) Elevated erythrocyte sedimentation rate
C) Focal increased bone density in radiographs
D) Periosteal reaction
E) Enhanced uptake of tracer in radionuclide bone scans

29) A fine-needle aspiration of the patient described in Question 26 returns numerous neutrophils
and cocci. A biopsy shows a fragment of necrotic bone embedded in purulent exudate. Which of
the following terms best described the necrotic bone?
A) Osteophyte
B) Brodie abscess
C) Involucrum
D) Sequestrum
E) Cloaca



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30) A 23-year-old patient with sickle cells anemia presents with a tender and edematous area on
the left tibia and an associated low-grade fever, elevated erythrocyte sedimentation rate, positive
C-reactive protein findings and x-ray findings that suggest acute osteomyelitis. Which of the
following pathogens is most likely to be present?

A) Staphylococcus aureus
B) Escherichia coli
C) Pseudomonas aeruginosa
D) Streptococcus pyogenes
E) Salmonella enteritidis

31) Ms Q was well in 2000 when, at age of 50 years, she presented for primary care to inquire
whether she should continue taking postmenopausal hormone therapy given her concerns about
breast cancer risks. Her new physician counseled her about her breast cancer risk and ordered a
bone mineral density (BMD) study. Her T score at the spine was – 1.4 and – 0.6 at the total hip.
She continues taking daily conjugated estrogen and medroxyprogesterone acetate until 2001.
Follow up BMD testing was performed in 2003. Her T score at the spine (L1-L4) had declined
from – 1.4 in 2000 to – 2.3. Her total hip score had declined from – 0.6 in 2000 to – 1.9. Which
of the following terms best characterizes Ms Q’s long term fracture risk at this time?

A) Normal bone mass
B) Osteopenia
C) Preclinical osteoporosis
D) Established osteoporosis

32) Which of the following would be the treatment of choice in Ms Q’s case at this time?

A) No intervention is needed
B) Bisphosphonates
C) Androgens
D) Parathyroid hormone
E) Calcitonin

33) Ms Q has a follow up BMD testing in 2006. Her T score at the spine (L1-L4) had declined
from – 2.3 in 2003 to – 3.3. Her total hip score had declined from – 1.9 in 2003 to – 2.2. Her T
score at the distal radius is – 1.4. Which of the following terms best characterizes Ms Q’s
fracture risk at this time?

A) Normal bone mass
B) Osteopenia
C) Preclinical osteoporosis
D) Established osteoporosis




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34) Ms Q is likely to have all the following risk factors for her bone condition except:

A) Caucasian race
B) Obesity
C) Smoking
D) Nutritional deficiency
E) Physical inactivity

35) Based on Ms Q’s BMD measurements, which of the following bones is at higher risk for
fracture?

A) Ankle
B) Distal radius
C) Lumbar spine
D) Hip
E) Proximal humerus

36) Which of the following terms most correctly characterizes Ms Q’s condition?

A) Involutional osteoporosis
B) Type 1 osteoporosis
C) Type 2 osteoporosis
D) Post-partum osteoporosis
E) Secondary osteoporosis

37) Which of the following mechanisms is most likely involved in the pathogenesis of Ms Q’s
bone condition?

A) Estrogen deficiency
B) Hyperparathyroidism
C) Impairment of osteoblast function
D) Both A and B
E) Both C and D

38) All of the following pathological descriptions correctly characterize Ms Q’s bone condition
except:

A) Loss of tranverse trabeculae
B) Defects in matrix mineralization
C) Loss of vertical trabeculae
D) Loss of trabecular connectivity
E) Trabecularization of the cortical bone




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39) A 74-year-old, obese woman (BMI=33 kg/m2) complains of chronic pain in her back, knees
and fingers. The pain typically subsides at rest. On physical examination, the distal
interphalangeal joints are enlarged and tender. Which of the following best describes the
pathogenesis of joint pain in this patient?

A) Inflammation of articular ligaments
B) Degenerative changes of cortical bone
C) Degenerative changes of spongious bone
D) Degeneration of articular cartilage
E) Pannus formation

40) The patient described in Question 39 undergoes imaging studies. The plain film radiographs
of the spine, knees and hands are most likely to reveal which of the following?

A) Osteophyte formation
B) Generalized osteoporosis
C) Erosions with overhanging edges
D) Marginal erosions
E) Squaring of the vertebral bodies

41) A 40-year-old woman is admitted to the hospital with polyarthritis. She complains of
morning stiffness in her hands. On physical examination, her finger joints are painful, swollen
and warm. An x-ray examination of the hands shows narrowing of the joint spaces of the
metacarpophalangeal joints. The adjacent bones show localized osteopenia. A synovial biopsy
reveals synovial cell hyperplasia, lymphoid follicles and pannus. Which of the following is the
most likely diagnosis?

A) Gout
B) Rheumatoid arthritis
C) Osteoarthritis
D) Psoriatic arthritis
E) Osteochondroma

42) Laboratory studies conducted on a blood sample from the patient described in Question 41
will most likely show antibodies directed against which of the following proteins?

A) Double stranded DNA
B) HLA-B27
C) Fab2 portion of IgM
D) Fc portion of IgG
E) SSA/Ro




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43) On hospital day #3 the patient described in Question 41 complains of dyspnea. A chest x-ray
shows a large left pleural effusion. Thoracentesis produces 500 cc of turbid fluid. Pleural fluid
laboratory testing reveals:
        -WBC count: 2000/mm3 (normal <300)
        -WBC differential count: 6% neutrophils, 42% lymphocytes, 52% reactive mesothelial
                cells
        -LDH: 9000 U/L (normal <190)
        -Total protein: 4.6 g/dL (normal<3)
        -Gram stain, acid fast bacilli stain and fungal stains all result negative
The patient dyspnea improves after thoracentesis. On hospital day #5, a chest CT scan shows a
2.0x1.5 cm lung mass at the right posterior base. A CT-guided transthoracic needle biopsy is
performed on the mass. Biopsy results are non-diagnostic showing only necrotic debris and
inflammatory cells. On hospital day #12 transthoracic biopsy of the lung mass is performed. The
gross pathologic examination reveals a yellowish nodular lesion. Microscopic examination
shows a large area of fibrinoid necrosis surrounded by palissading cells. Special stains for
mycotic and acid fast organisms are negative. Most of the lung sample showed interstitial
fibrosis and chronic inflammation. Which of the following is the most likely cause of this
patient’s lung condition?

A) Miliary tuberculosis
B) Interstitial pneumonia
C) Lung metastasis of osteosarcoma
D) Rheumatoid lung disease
E) Wegener granulomatosis

44) A 23-year-old man complains of stiffness and pain in his lower back that causes him to
awaken at night. He first noticed morning stiffness in his lower back during his college years. He
also describes occasional pain in his right eye and sensitivity to light. An x-ray of the sacroiliac
regions shows fusion of the small joint spaces in the posterior spine and ossification of the
intervertebral discs. Serologic tests for rheumatoid factor and antinuclear antibodies are negative.
Which of the following is the most likely diagnosis?

A) Rheumatoid arthritis
B) Degenerative spine disc disease (spondylosis)
C) Osteoarthritis
D) Ankylosing spondylitis
E) Reiter syndrome

45) The prevalence of the condition described in Question 44 most closely correlates with the
prevalence of which of the following HLA antigens in a given population?

A) B8
B) B27
C) DR2
D) DR3
E) DQw2



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46) The condition described in Question 44 has a tendency to develop extraarticular
manifestations. Which of the following is the most common extraarticular manifestation in
patients with a similar disease?
A) Amyloidosis
B) Neurologic sequelae
C) Uveitis
D) Cardiac conduction defects
E) Apical lung fibrosis

47) A 28-year-old man complains of burning pain on urination, as well as pain in his fingers and
his left eye. He also relates a recent episode of bacillary diarrhea contracted during a visit to
Mexico. Physical examination confirms arthritis and conjunctivitis. The patient responds well to
treatment with NSAIDs. Which of the following is the most likely diagnosis?

A) Ankylosing spondylitis
B) Septic arthritis
C) Osteomyelitis
D) Rheumatoid arthritis
E) Reiter syndrome

48) Mr. B, a 66-year-old man, presented to the Emergency Department complaining of pain in
the left knee of 1 day’s duration without preceding lower extremity trauma or strain. The pain
was exacerbated with ambulation. He had been well until one day before admission, when he
suddenly developed unremitting, excruciating left knee pain that precluded weight bearing. He
subsequently developed temperature of 40°C (104°F) and was limited to bed rest due to
unremitting symptoms. He denied prior joint pain. His past medical history included medical
nonadherence, hypertension, metabolic syndrome and coronary artery disease. On physical
examination the patient was obese. The left knee was swollen, hot and tender but not
erythematous. On laboratory evaluation:
         -WBC count was 12,200/mm3 (normal 4,000-10,000)
         -WBC differential count: 80% neutrophils (normal 55-70), 11% monocytes (normal 2-8),
                and 8% lymphocytes (normal 20-40)
         -Erythrocyte sedimentation rate: 46 mm/hr (normal up to 15)
         -C-reactive protein: 35 mg/dL (normal <1)
         -Creatinine 1.2 mg/dL (normal 0.6-1.2)
         -Calcium 8.2 mg/dL (normal 9-10.5 mg/dL)
         -Uric acid 8.6 mg/dL (normal 4-8.5)
Bilateral knee aspirates showed WBC 40,000/mm3 (normal <150) with negatively birefringent
intracellular needle-shaped crystals. Gram stain was negative. Blood and knee aspirate bacterial
cultures remained negative. Which of the following is the most likely diagnosis?

A) Ankylosing spondylitis
B) Gout
C) Pseudogout
D) Septic arthritis
E) Rheumatoid arthritis



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49) Which of Mr.B’s laboratory findings was most crucial for establishing the diagnosis?

A) Hyperuricemia
B) Peripheral blood leukocytosis
C) Synovial fluid leukocytosis
D) Negative blood and knee aspirate bacterial cultures
E) Presence of negatively birefringent intracellular needle-shaped crystals

50) Three years later, Mr.B presented again with a gradually enlarging, painless, hard swelling
on the dorsal portion of his nose. He denied previous nasal trauma or intranasal symptoms.
Surgery was indicated to enable diagnosis, as well as restoration of normal nasal esthetics. The
nodule was resected and sent for pathologic evaluation. The formalin-fixed and H&E-stained
sample revealed crystalline-like deposits surrounded by histiocytes and multinucleated giant cells
of foreign body type. Which of the following is most likely to explain Mr.B’s nasal
manifestations?

A) Osteochondroma
B) Foreign-body granuloma
C) Rheumatoid nodule
D) Skin tuberculosis
E) Tophus




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       Block X Pathology Exam 2 Version A
                  Answer Key
1-B
2-D
3-A
4-C
5-C
6-D
7-E
8-E
9-B
10-D
11-B
12-D
13-A
14-A
15-E
16-A
17-A
18-C
19-C
20-C
21-B
22-C
23-E
24-C
25-E
26-D
27-A
28-C
29-D
30-E
31-B
32-A
33-C
34-B
35-C
36-B
37-A
38-B
39-D
40-A
41-B
42-D
43-D
44-D



                                            14
45-B
46-C
47-E
48-B
49-E
50-E




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