Joints. RA typically manifests as a symmetric arthritis principally affecting the small joints of the hand and feet. The synovium becomes grossly edematous, thickened, and hyperplastic, transforming its smooth contour to one covered by delicate and bulbous villi ( Fig. 26-43 A, B ). The characteristic histologic features include (1) synovial cell hyperplasia and proliferation; (2) dense inflammatory infiltrates (frequently forming lymphoid follicles) of CD4+ helper T cells, B cells, plasma cells, dendritic cells, and macrophages ( Fig. 26-43 C ); (3) increased vascularity due to angiogenesis; (4) fibrinopurulent exudate on the synovial and joint surfaces; (5) osteoclastic activity in underlying bone, allowing the synovium to penetrate into the bone and cause periarticular erosions and subchondral cysts. Together, the above changes produce a pannus: a mass of edematous synovium, inflammatory cells, granulation tissue, and fibroblasts that grows over the articular cartilage and causes its erosion. In time, after the cartilage has been destroyed, the pannus bridges the apposing bones to form a fibrous ankylosis , which eventually ossifies and results in fusion of the bones, called bony ankylosis ( Fig. 26-41 ).




1. Which of the following is not a criterion for
remission in rheumatoid arthritis (RA) according
to the ACR/EULAR 2011 criteria?
a. C-reactive protein (CRP) ≤1 mg/dL
b. Swollen joint count ≤1
c. Tender joint count ≤1
d. Physician global assessment ≤1

2. A 45-year-old female complaints of increasing
widespread joint pains which are worse in the
evening after a stressful day at work. She describes
puffy hands and feet and a painful neck. Her
concentration is very poor and she has recently
suffered from marital problems. Rheumatoid factor
is mildly positive. Examination reveals an increased
body mass index and global restriction of movement
due to pain, but no synovitis. Which of the following
investigations would be useful in this case?
a. Anti-cyclic citrullinated peptide antibody
b. Ultrasound scan hands and feet
c. Anti-JO-I antibody
d. Erythrocyte sedimentation rate and C reactive
e. Anti-mitochondrial antibody

3. Which of the following drugs is most likely to
cause systemic lupus-like syndrome?
a. Baclofen
b. Isoniazid
c. Methotrexate
d. Procainamide
e. Sulfasalazine

4. A 25-year-old female gives birth to a baby with
complete heart block who subsequently requires
pacemaker insertion. Which of the following
antibodies is most likely to be detected in the
maternal serum?
a. Anti-double-stranded deoxyribonucleic acid
(dsDNA) antibodies
b. Anti-endomysial antibodies
c. Anti-Ro/SSA antibodies
d. Anti-SCL70 antibodies
e. Rheumatoid factor

5. Which of the following is a pro-inflammatory
a. CRP
b. Interleukin 4 (IL-4)
c. IL-10
d. Serum amyloid precursor protein
e. Tumour necrosis factor-alpha

6. A 72-year-old man presents with an acutely painful
right knee. On examination, he had a temperature
of 37°C with a hot, swollen right knee. Of relevance
amongst his investigations, was his white cell count
which was 12.6 × 109
/l and a knee X-ray revealed
reduced joint space and calcification of the articular
cartilage. Culture of aspirated fluid revealed no growth.
What is the most likely diagnosis?
a. Gout
b. Psoriatic monoarthropathy
c. Pseudogout
d. Rheumatoid arthiritis
e. Septic arthritis

7. Which of the following regarding Infliximab is
most true?
a. Is a monoclonal antibody to the glycoprotein
IIb-IIIa receptor
b. Is authorized for the treatment of severe
ulcerative colitis
c. Is licensed for the treatment of RA
d. It prevents relapse of Crohn’s disease in patients
who are in remission
e. Must not be used in combination with
methotrexate due to increased toxicity

8. A 25-year-old lady with known systemic lupus erythematosus (SLE) presents with the nephrotic syndrome. A renal biopsy is performed and this confirms diffuse proliferative glomeronephritis (WHO Class IV). Which of the following treatment regimens would you advise? a. Azathioprine alone b. Prednisolone alone c. Azathioprine and prednisolone d. Prednisolone and intravenous cyclophosphamide e. Prednisolone and methotrexate

9. Which of the following auto-antibodies may have a
role in monitoring disease activity?
a. Rheumatoid factor in RA
b. Antinuclear antibodies in SLE
c. Anti-Sm antibodies in SLE
d. Anti-dsDNA antibodies in SLE
e. Anti-Ro (SSA) antibodies in Sjogren’s

10. A 69-year-old woman taking hydralazine for
hypertension presents with joint pain and chest
pain. On cardiac examination, the patient has a
pericardial rub. What is the diagnosis?
a. Dermatomyositis
b. SLE
c. Polymyalgia rheumatic
d. Felty syndrome

Which of the following is the most specific test for Rheumatoid arthritis
a) Anti CCP antibody
b) Anti lgM antibody
c) Anti IgA antibody
d) Anti IgG antibody

More MCQs


Rheumatoid Arthritis is in and of itself a risk factor for osteoporosis.
All rheumatoid arthritis patients should have a bone density study to screen for osteoporosis.

Rituxan is a tumor necrosis factor inhibiting drug

  1. True
  2. False
    Rituxan depletes B cells

Every Rheumatoid Arthritis patient should be on Methotrexate

  1. True
  2. False
    Question 3 of 10

Question 8

Your score: 21

There are many patients who do well with less potent drugs such as sulfasalazine or Plaquenil. Hopefully, some day there will be a test to tell us who will have severe disease and needs early aggressive treatment now, as opposed to later.

Untreated Rheumatoid Arthritis lowers the life span.

  1. True
  2. False

Question 7

Your score: 31

Even factoring in those patients who suffer adverse drug events, those patient who are not adequately treated for their rheumatoid arthritis do not live as long, statistically speaking, as their “normal” counterparts.

Sjogren’s syndrome can occur in Rheumatoid Arthritis patients.

  1. True
  2. False

Question 6

Your score: 41

Correct! It is important to ask a patient about dry eyes or dry mouth or dry vagina, and treat these things accordingly to improve the patient’s quality of life.

Lower education level in general results in a worse outcome in Rheumatoid Arthritis.

  1. True
  2. False
Question 5


Keeping all other things equal, such as compliance with prescribed medications, less education appears to result in more debility and more severe disease.

Rheumatoid Arthritis is not associated with stiffness.

  1. True
  2. False

Question 4

Correct! One of the hallmarks of Rheumatoid Arthritis involves morning stiff of at least 45 minutes in duration.

Rheumatoid Factor is associated with more aggressive disease.

  1. True
  2. False

Question 3

Correct! A positive rheumatoid factor is associated with more destructive arthritis, as well as other manifestations besides arthritis, such as rheumatoid lung, rheumatoid nodules, etc..

Rheumatoid Arthritis affects the lumbar spine.

  1. True
  2. False

Question 2

FALSE! It can affect the cervical spine, which in fact can result in paralysis due to C1-C2 subluxation with resultant spinal cord damage.

Rheumatoid arthritis affects 10 percent of the world’s population

  1. True
  2. False

Question 1


Rheumatoid Arthritis affects 1% of the population.Rheumatoid Arthritis can occur at any age, but it usually occurs between the ages of 25-55 and is more likely to affect women than men.


■ When the response to methotrexate or other DMARDs has been inadequate, all
of the following drugs may be considered for RA except:

1. leflunomide
2. cytokine modulators (adalimumab , etanercept , infliximab)
3. Metozolv
4. ciclosporin

■ T or F:

Two examples of glucocorticoids used to treat RA are
azathioprine and ciclosporin

■ T or F:
DMARDs are considered to be first-line drugs, as their clinical effects are
relatively fast (1-2 weeks).

■ T or F:
Methotrexate is a folic acid agonist with cytotoxic and immunosuppresant activity
■ Degradative enzymes including Metalloproteinases and serine proteases, digest extracellular matrix and destroy the joint surface. In addition, the ______ has been incriminated as a major factor underlying bone erosion in RA.

1. osteoblast
2. osteoclast

■ In reactive arthritis, an infectious agent in the gastrointestinal tract incites an inflammatory reaction in individuals carrying:

1. HLA-B27
2. HLA- DR4
3. PRRs



A 64 year old man has a painful, swollen right knee. The symptoms began two days earlier. There is no history of trauma. His joint aspirate shows pus cells, negatively birefringent crystals and no organisms. What is the diagnosis?

a. Septic arthritis
b. Pseudogout
c. Gout
d. Reactive arthritis
e. Not enough information to make a diagnosis


Q. A 63-year-old male presents with severe pain in his left wrist. The wrist is swollen, tender to touch and red. Aspiration reveals fine needle shaped yellow birenfringent crystals. Which treatment is unlikely to help this patient?
A. Colchicine
B. Indomethacin
C. Allopurinol
D. Corticosteroids


In gout:

a) Only about 5% of hyperuricemic patients develop gout
b) Monosodium urate crystals are demonstrable in synovial fluid leukocytes
c) May occur as a result of PRPP synthetase deficiency
d) The great toe is the site of first attack in 90% of the cases (wrong! 90% 1st attacks are monoarticular, while 50% are podagra, and 90% pf gout patients eventually get podagra in the 1st MTP joint.
e) Nephropathy may occur due to obstruction of the collecting system by urate crystal

Treatment of an acute gout attack is achieved by:

a) Colchicine
b) Allopurinol
c) Uricosuric agents
d) Indomethacin
e) Methorexate

Pseudogout. Mark T or F.

a) It occurs as a result of calcium pyrophosphate deposition
b) It usually affects younger individuals (older)
c) It can be associated with hyperthyroidism, ochronosis and Wilson’s disease
d) Chondrocalcinosis is a known x-ray finding
e) Intraarticular injection of steroids is useful

The side effects of colchicine are all of the following except:
a. Diarrhea
b. Liver toxicity
c. myelosuppresion
d. Peripheral neuropathy

What is the key enzyme needed to salvage the pathway off purine synthesis?
a. Hyperxanthine guanine phosphoribyosltransferase (HGPRT)
b. Hypoguanine xanthine phosphoribyosltransferase (HXPRT)
c. Hyperibysl guanine phosphoribyosltransferase (HGPRT)
d. Hypoxanthine guanine phosphoribyosltransferase (HGPRT)

T or F:
In Lesch-Nyhan Syndrome, in addition to lack of HGPRT-no salvage pathway, characterized by hypouricemia, self-mutilation and mental retardation

The goal of chronic gout meds is to:
a. control pain (limit inflammation)
b. modify purine metabolism
c. control HGPRT

Purines are converted to hypoxanthine and xanthine via what enzyme?
a. Xanthine peroxidase
b. Xanthine oxidase
c. Oxypurinol

Lesch-Nyman syndrome is due to deficiency of ______ caused by _______ mutation.


Mutations in the HGPRT gene lead to (leading to high levels of uric acid in he blood, gouty arthritis, uric acid stones)
a. Hyperuricemia
b. Hypouricemia

Phosphoribosylpyrophosphate synthetase (PRPS) deficiency is:
a. A rare disorder where an enzyme (Phosphoribosylpyrophosphate synthetase) deficiency causes mental retardation and hypouricemia.
b. A fairly common disorder where an enzyme (Phosphoribosylpyrophosphate synthetase) deficiency causes mental retardation and hypouricemia.

Probenecid is used for treating gout and hyperuricemia and the main action if the drug is to:
a. decrease uric acid in the urine
b. increase uric acid in the urine

A 50-year-old man has severe pain at the base of his left great toe, around the forward portion of the arch. The first metatarsophalangeal joint of his left foot is tender, markedly inflamed, and erythematous. Laboratory studies show a serum uric acid level of 10.4 mg/dL. A 24-hour urine specimen contains 550 mg of uric acid. Light microscopy of a synovial aspirate shows the presence of monosodium urate crystals. The most appropriate treatment for this patient’s arthritic pain is:

A. allopurinol
B. aspirin
C. colchicine
D. probenecid
E. sildenafil

What are MSU crystals?
a. intra-articular mono sodium urate crystals (or in tissues)
b. intra-articular mono sodium uranium crystals (or in tissues)

Febuxostat may cause problems with liver transaminases, and therefore
periodic liver function tests are required.

a. T
b. F

For patients with a history of allopurinol hypersensitivity, what drug may be considered an alternative?
a. Metformin
b. Febuxostat (structurally different than allopurinol, but similar function)

Febuxostat is good drug to use for patients with what type of issues:
a. Liver
b. Kidney
c. Heart

Allopurinol and Probenecid are known as “suicide substrates”. By inhibiting XO they decrease purine metabolism which decreases uric acid. They are used in ____ gout because these are prodrugs that are converted by xanthine oxidase to alloxanthine which then inhibits the enzyme xanthine oxidase itself.
a. Acute
b. Chronic

Probenecid inhibits the _______ tubular reabsorption of urate. Probenecid (Lannett’s Probalan) is a uricosuric drug, that is, it increases uric acid excretion in the urine.
a. proximal
b. distal

Should allopurinol be used in renal failure?
a. yes
b. No

Once a diagnosis of gout is confirmed, goals of therapy should include which of the following?
a. Decrease the serum uric acid level to less that 4.0mg/dl
b. Decrease the serum uric acid level to less that 6.0mg/dl

T or F?
If a patient gets a rash after taking allopurinol, they should be re-started on the same drug with a lower dose.

Which of the following drugs does not impair uric acid excretion?
a. Low dose aspirin
b. Thiazides
c. Losartan
d. Cyclosporin
e. Alcohol

(Losartan is a good drug to switch to)

T or F?
An inflammatory reaction that is in full swing can be worsened by a change in serum urate concentration. Urate lowering drugs should not, therefore, be initiated during an acute attack of gout.

(First, take care of the inflammatory reaction)

Which of the following is not associated with hyperuricemia?
a. HPRT deficiency (leads to hyperuricemia)
b. Psoriasis (rapid turnover of cells, DNA)
c. hemolytic anemia (destruction of RBCs)
d. PRPP deficiency (because hyperuricemia is associated with PRPP hyperactivity, not deficiency)
c. Ketogenic diet (high protein)

Pseudogout invloves what type of crystals?
a. CPP
b. PPC
c. PCP

With gout and pseudogout, joint inflammation is caused by crystals that form in the synovial fluids. In pseudogout, these crystals are:
a. Nitrate
b. uric acid
c. purine
d. calcium pyrophosphate 

With acute gout, we can use an NSAID, but if the NSAIDs are contraindicated pt with renal issues, or peptic ulcer disease, then we may consider Colcichine (but this also may have side effects- GI etc ). Another alternative to an NSAID is a glucocorticoid (such as hydrocortisone) So, think of NSAID, Colcichine, or glucocorticoids for acute gout.

For prophylaxis, such as allopurinol (but must wait until pt is asymptomatic). Also, you could use a uricosuric drug if they are allergic to allopurinol (probenecid).


1. Why do patients with osteoporosis have a high risk for a second fracture?
a. immobility leads to increased bone resorption
b. immobility leads to decreased bone resorption

2. The efficacy of drugs for preventing osteoporosis depends on what?
a. availability and gut absorption rate
b. adequate intake of vitamin D and calcium

3. How do ostocytes develop?
a. hematopoietic stem cell –> pre-clast –> clast –> cytes
b. hematopoietic stem cell –> pre-blast –> blast –> cytes

4. How do osteoblasts develop?
a. hematopoietic stem cell –> pre-blast –> blast
b. mesenchymal stem cell –> pre-blast –> blast

5. Why do bisphosphonates accumulate in osteoclasts?
a. inhibit resorption and require resorption to be released from bone = prolonged residence time in bone
b. they do not accumulate. accumulation would cause remodeling of bone

6. what are side effects of bisphosphonates?
a. calcium deficiency, leukopenia
b. esophagitis, esophageal ulcers

7. How does estrogen affect bone?
a. balances resorption and formation
b. controls levels of vitamin D and calcium metabolism

8. What happens to bone with estrogen deficiency?
a. Less reabsorption
a. excess resorption

9. What governs the rate of pre-osteoclasts to osteoclasts?
a. estradiol
b. estrogen and progesterone

10. The body can only absorb about ____-____ mg of Ca at a time
a. 500-600mg
b. 300-400mg

11. T or F? The MOA of SERMs?
MOA: estrogen agonist in bone – suppresses proliferation and differentiation of osteoclasts, and increases their apoptosis also estrogen agonist in CV system and antagonist on breast and uterus tissue

12. T or F? Calcitonin balances the effects of _____

13. What is the active form of Vitamin D?
a. 1a,25-dihydroxyvitamin D (calcitriol)
b. 1a,20-dihydroxyvitamin D (calcitriol)

14. T or F? What is roloxifene?
An antiresoptive agent which is an estrogen agonist in the bone and antagonist elswhere

15. Bisphosphonates are contra-indicated in which patients?
a. Those w/ pre-existing hypocalcemia
b. Those under 30

16. T or F? Calcitonin
Inhibits osteoclasts – modest effects – dec pain w/ acute vertebral compression fracture

17. In normal bone metabolism, what happens when blood Ca levels are high?
a. Calcitonin inhibits bone resorption by osteoblasts to prevent any excess Ca release
b. Calcitonin inhibits bone resorption by osteoclasts to prevent any excess Ca release

18. PTH is released from chief cells of parathyroid in response to _____
a. low serum calcium concentration
b. high serum calcium concentration

19. Treatment decisions for osteoporosis should not be based solely on BMD. Which of the following should also be considered?
a. Previous osteoporotic fractures
b. Serum vitamin D levels
c. Thyroid function testing
d. Cost, compliance and safety of proposed treatment
e. All of the above

20. Vitamin D analogues (Calcijex, calcitriol, doxercalciferol, Hectorol, paricalcitol, Rocaltrol
Zemplar) have been shown to cause hypercalcemia and are not therefore recommended for the routine treatment of osteoporosis in the USA. T or F?

21. Which of the following statements regarding the bisphosphonates is NOT true?
a. Monthly dosing as opposed to daily dosing reduces the risk of oesophagitis
b. Safety in pregnancy has not been established
c. Bisphosphonates work by inhibiting osteoclast attachment and enhancing programmed cell death
d. Bisphosphonates are not considered first-line therapy in severe osteoporosis (they ARE)
e. Discontinuation of alendronate after 5 years results in minimal bone loss over the ensuing 5 years.

22. It is wise to recommend a full dental assessment and completion of any required procedures before initiating therapy with bisphosphonates. T or F? (can cause necrosis of jaw)

23. Thyroid hormone increases the rate of bone turnover. In hyperthyroidism osteoblasts cannot form bone as quickly as osteoclasts resorb bone. Hyperthyroidism can therefore lead to osteoporosis. T or F?

24. Osteoporosis is a disorder of:
a. Decreased bone mass
b. Increased estrogen level
c. Autoimmune disorder
d. All of he above

25. Postmenopausal women are more prone to suffer from osteoporosis due to:
a. Decreased progesterone level
b. Increased progesterone level
c. decreased estrogen level
d. Increased estrogen level

26. Which tool is known as the ‘Gold Standard’ for diagnosing osteoporosis?
a. Biochemical markers of bone
b. X-ray
c. Ultrasound of heal
d. DEXA Dual energy x-ray absorbtiometry

27. Alendronate can be used on which type of osteoporosis?
a. Postmenopausal osteoporosis
b. Male osteoporosis
c. Steroid induced osteoporosis
d. all of the above

28. Alendronate is used in treatment of osteoporosis because it:
a. Inhibits osteoclastic activity
b. Inhibits osteoblastic activity
c. Increases calcium absorption
d. Activates PTH

29. Which is not an antiresorptive drug
a. HRT
b. Vitamin D
c. Alendronate
d. Calcitonin

30.  A 24-year-old man on chronic corticosteroid therapy for severe asthma presents with a 6-month history of increasing hip pain. This patient most likely exhibits symptoms of which of the following metabolic bone diseases?
a. Gaucher disease
b. Osteomalacia (softening of the bones caused by defective bone mineralization secondary to inadequate levels of available phosphate and calcium, or because of overactive resorption of calcium from the bone
c. Osteopetrosis (bone disease that makes bones abnormally dense and prone to breakage (fracture)
d. Osteoporosis
e. Paget disease


31. A 58-year-old woman fractures her hip after slipping on an icy sidewalk. An X-ray shows generalized osteopenia. A bone biopsy reveals attenuated bony trabeculae and a normal ratio of mineral-to-matrix. Serum calcium and phosphorus levels are normal. Which of the following best explains the pathogenesis of osteopenia in this postmenopausal woman?

a. Impaired mineralization of osteoid
b. Increased osteoblast activity
c. Increased mineralization of bone
d. Increased osteoclast activity
e. Mosaic bone formation

Type 1 osteoporosis – increase in osteoclast activity
Type 2 osteoprosis – decresed osteoblast activity

32. What is the most frequent secondary cause of osteoporosis in adults?
1. Hypergonadism
2. Hypogonadism (anorexia. amenorrhea, etc)

33. T or F: Patients with RA may present with low bone mass. (not related to Tx of steriods etc)

34. T or F. Chronic alcohol ingestion is detrimental to the skeleton. (it suppresses osteoblast function and enhances bone resorption, they will also have low vitamin D levels)

35. In addition to glucocorticoids, what other drug can put a person for risk of developing osteoporosis?
a. Anticonvulsants (dilantin etc)
b. chronic heparin therapy
c. antpsychotic drugs
d. second generation SSRIs
e. proton pump inhibitors (low magnesium)
f. Thyroxine
g. alcohol
h. cyclosporin-tacrolimus (immunosuppressants)

h. all of the above
i. none of the above


– Osteosarcoma is a malignant tumour of:
a. osteoblasts
b. osteoclasts

What is the 2nd most common primary malignant bone tumour?
a. Osteosarcoma
b. Osteochondroma

What is the normal function of BRCA1/BRCA2?
a. Regulation of RNA repair
b. Regulation of DNA repair

What type of cells are proliferating in Osteosarcoma (Osteogenic Sarcoma)?
a. osteoclasts
b. osteoblasts (osteoid secretion tumour)

What age group is commonly affected by secondary Osteosarcoma (Osteogenic Sarcoma)?
a. > 65 y/o
b. > 70 y/o

What is MOA of Etoposide?
a. Causes double stranded DNA breaks through DNA Topoisomerase
b. Causes single stranded RNA breaks through DNA Topoisomerase

What type of cancer chemotherapy is Cyclophosphamide?
a.  Adjuvant
b. CCNS Alkylating agent

Which enzyme involved with DNA replication creates a single- or double-stranded break in the DNA double helix to add or remove supercoils?
a. DNA Topoisomerase
b. RNA DNA Topoisomerase

T or F:
Methotrexate is an anti-metabolite cancer therapy

What is the MOA of the antineoplastic Cisplatin?
a. Cross-linking of DNA
b. Cross-linking of RNA

Which bone cancer has an increased risk of occurring in Paget Disease of Bone?
a. osteosarcoma
b. osteochondroma

What age group is commonly affected by Osteosarcoma (Osteogenic Sarcoma)?
a. Bimodal distribution (10-20 y/o and > 65 y/o)
b. Bimodal distribution (15-30 y/o and > 70y/o)


1. Osteogenesis imperfecta is a bone disorder that arises from an inability to form

________ (problems forming a triple helix of collagen alpha chains)
a. Collagen 1
b. Procollagen
c. Fibroblasts

2. What is the genetic inheritance of the most common form of Osteogenesis imperfecta?
a. autosomal recessive
b. autosomal dominant
c. x-linked

3. ______ is a complication of Osteogenesis imperfecta that results from abnosrmal ossicle formation.
a. Ehlers Danlos syndrome
b. Hearing loss
c. Brittle bone disease

4. Dental imperfections are a complication of Osteogenesis imperfecta due to a lack of ____ formation.
a. Collagen 1
b. Colagen 11
c. Dentin

5. What type of collagen is found in bone?
a. Type 2
b. Type 1
c. Type 3

5. What type of collagen is found in hyaline cartilage found in articulating surfaces?
a. Type 2 collagen
b. Type 1 collagen
c. Type 3 collagen

6. What type of collagen is abundant at the glomerular baseline?
a. Type 2 collagen
b. Type 1 collagen
c. Type 3 collagen
d. Type 4 collagen
e. Type 5 collagen

7. What type of collagen is found in scars?
a. Type 2 collagen
b. Type 1 collagen
c. Type 3 collagen
(Type 1 collagen replaces type 3 collagen in scar formation)

8. What trace element that acts as a cofatcor for Lysyl Oxidase.
(Lysyl Oxidase is an enzyme which cross-links collagen)
a. Copper
b. Zinc
c. Lead
d. Magnesium

9. What is the most abundant protein in the human body?
a. Albumin
b. collagen

10. What type of cells make collagen?
a. osteoclasts
b. osteoblasts

11. What type of collagen is found in tendons?
a. Type 2 collagen
b. Type 1 collagen
c. Type 3 collagen

12. What type of collagen is found in the cornea?
a. Type 2 collagen
b. Type 1 collagen
c. Type 3 collagen

13. What type of collagen is found in dentin?
a. Type 2 collagen
b. Type 1 collagen
c. Type 3 collagen

14. What type of collagen is found in reticulin?
a. Type 2 collagen
b. Type 1 collagen
c. Type 3 collagen

15. What type of collagen is found in blood vessel walls?
a. Type 2 collagen
b. Type 1 collagen
c. Type 3 collagen (as reticulin)

16. What type of collagen is found in granulation tissue?
a. Type 2 collagen
b. Type 1 collagen
c. Type 3 collagen (as reticulin)

17. What type of collagen is deficient in the vascular type of
Ehlers-Danlos Syndrome?
a. Type 2 collagen
b. Type 1 collagen
c. Type 3 collagen

18. What type of collagen is found in the lens of the eye?
a. Type 2 collagen
b. Type 1 collagen
c. Type 4 collagen

19. Collagen is made by first making a three-dimensional stranded structure called procollagen. What amino acids are needed to make procollagen?
a. proline, lysine
b. glycine, lysine
c. glycine, proline

20. On the way to becoming collagen, procollagen is modified by the addition of hydroxyl groups to the amino acids, ___ and ____. This step is important for glycosylation and formation of the triple helix structure of collagen.
a. proline, lysine
b. glycine, lysine
c. glycine, proline


1. Becker Muscular Dystrophy (BMD) is a muscular dystrophy that involves a mutation in Dystrophin.

2. How do the length of the H and I bands of the sarcomere change in muscle contraction?
Both decrease

3. Pseudohypertrophy is a feature of Duchenne Muscular Dystrophy that typically presents at the calf muscles due to fibrofatty replacement of muscle.

4. What gene undergoes a frameshift mutation in Duchenne Muscular Dystrophy?
Dystrophin; mutation truncates the proteins; results in accelerated muscle breakdown. Hence, the loss of dystrophin in Duchenne Muscular Dystrophy results in myonecrosis

5. Type 1 muscle fibers are a type of muscle fiber that perform sustained contraction due to an increased concentration of mitochondria and myoglobin (i.e. increased oxidative phosphorylation capacity).
Hence these fibers are “red” fibers.

6. Which gene is mutated in Becker Muscular Dystrophy?
DMD = frameshift mutation in Dystrophin causing deletion of the protein
BMD = point mutation in Dystrophin, hence less severe
Both BMD and DMD = X-linked recessive

7. What type of mutation is seen in Duchenne Muscular Dystrophy?
Frameshift mutation – Causes a truncated Dystrophin protein and accelerated muscle breakdown

8. Where in the body does muscle weakness first appear in Duchenne Muscular Dystrophy?
Pelvic Girdle

9. How do Aldolase levels change in Duchenne Muscular Dystrophy?

10. What is the genetic inheritance of Duchenne’s Muscular Dystrophy (DMD)?

11. The Gower maneuver is a feature of Duchenne Muscular Dystrophy that involves patients using their upper extremities to help them stand up. These patients are typically young (< 5 y/o) and male (X-linked recessive).

12. How do CK-MM (Creatine Kinase) levels change in Duchenne Muscular Dystrophy?

13. What cardiac complications are seen in Myotonic Muscular Dystrophy Type 1?

14. Which human gene has the longest coding region?
Dystrophin (DMD) – For this reason there is an increased risk of spontaneous mutation

15. Which type of muscle fibers are referred to as slow twitch fibers?
Type 1

16. Which type of muscle fibers typically yield hypertrophy as a result of weight training?
Type 2, fast-twitch, white muscle fibers

17. What is the typical lifespan of someone with Becker Muscular Dystrophy?

18. What is the genetic inheritance of Becker Muscular Dystrophy?

19. What type of mutation is seen in Becker Muscular Dystrophy?
point mutation

20. Troponin C is a protein in muscle that binds to Ca2+ and causes a conformational change that moves tropomyosin out of the myosin-binding site on actin filaments.


– General clinical presentation

Fragile bones, lead to fracture, blue sclera, hearing loss, poor wound healing = Osteogenesis imperfecta

– Fractures, vertebral body, HIP WRIST- Osteoporosis

– Articular pain with movement, gets worse during the day, Bouchard Nodes (proximal). Heberden Nodes (distal IP joints), interphalangial bony enlargements = osteoarthritis

– Autosomal Dominant mutation, abnormal elastin fibers, effects cardiac, occular, and skeletal systems, gene for Fibrillin 1 =  Marfan’s syndrome (not Ehlers-Danlos syndrome) (remember that the elastin is wavy and abnormal, cytokines not properly signaling TGF Beta)

Key word for Ehlers Danlos syndrome = Loose joints, folding people, hypermobility, frail skin, cigarette paper thin scar, skin..onion skin thin…One type can cause empty organs to burst, arteries, uterus, danger in pregnancy – this is the vascular form.

– Lab tests

– ESR Erythrocyte sedimentation rate tells us what? = systemic inflammation
along with CRP…diseases where you could use an ESR – Rheumatoid arthritis, osteoid arthritis, middle-aged female patient (more prone to autoimmune diseases) with swelling in proximal phalangeal joint

– what test for RA? = Anti CCP cyclic citrullinated peptide (CCP) , marker for RA

– Test for CK, creatine kinase, maker for = muscle injury
If high, Pathognomonic for DMD (But CK is not specific for DMD)

– Can you always detect DMD with PCR test? No, need a muscle biopsy.
30% of the time, the PCR is not correct.

– CK isoenzyme CKMB (myocardial bound), marker for cardiac injury

– CRP (C-reactive protein) is direct marker for = inflammation (non specific), higher risk for heart attack and stroke

– ANA test – anti nuclear antibody = non-specific, can be high in several autoimmune diseases. Can be falsely positive in 5 to 10 % of pts.

– RF Rheumatoid factor, non-specific, positive for other autoimmune diseases too

– Alkaline phosphatase = one form is in the liver, marker for BONE TURNOVER, seen in children and pregnant women

– Serum calcium = what would a doc look at serum calcium? It will tell you about calcium homeostasis.


– Bisphoshanates (-dronates), when used? = used for ospetoporosis, and DMD (B/C at risk for osteoporosis) Bisphosphonaes can also be used for METASTATIC BONE DISEASE and HYOCALCEMIA 

MOA = bind to bone, inhibit octeoclast mediated bone resorption.
Side effects = GI, ulcers, bone pain, OSTEONECROSIS OF JAW

– Osteoporosis and CALCITONIN