Msk Disorders

Front 1

village; rural area culley

Back 1

农村
nóng ​cūn​

Hint 1

nóng ​cūn​

Front 2

What is shown? Who is most commonly affected by this disease?

Back 2

• Avascular Necrosis of bone
• Often due to fracture in elderly
• In young boys (3-10 yo) its called Legg-Calve Perthes disease

Front 3

What disease is shown? Who is commonly affected? What complications are these patients at risk for?

Back 3

Paget's disease of the bone
• Typically ♂ > 50 yo
• At risk for high-output heart failure and osteosarcoma

Front 4

What disease process is shown? What are the distinguishing factors?

Back 4

Osteoarthritis
• Most important feature is the degenerated cartilage

Front 5

What signs are pictured? At the DIP and at the PIP? What disease can this be seen in?

Back 5

DIP: Heberden's nodes
PIP: Bouchard's nodes
Seen in osteoarthritis

Front 6

What disease process is shown? What are the (3) characteristic signs seen?

Back 6

Rheumatoid Arthritis
• Ulnar deviation
• Boutonniere deformity
• Swan neck deformity

Front 7

What disease process is shown? What is one of the key characteristics pictured?

Back 7

Rheumatoid arthritis
• Pannus (granulation tissue that releases cytokines that destroy articular cartilage) formation

Front 8

• Autosomal dominant
• Pathology is due to defective synthesis of Type I collagen
• Signs: Fractures at birth, blue sclera, deafness
• Tx: Bisphosphonates (↑ bone mineralization)

Back 8

Osteogenesis imperfecta

Front 9

What is the 1º defect in osteogenesis imperfecta? What is its inheritance?

Back 9

• Defective synthesis of Type I collagen
• AD inheritance

Front 10

• AD
• Mutation in FGF-R gene (gene mutations ↑ with paternal age)
• Impaired proliferation of cartilage at the growth plate

Back 10

Achondroplasia

Front 11

Clinical findings of this disease include: normal sized head & vertebral column, shortened arms & legs, normal growth hormone & insulin growth factor-1 levels

Back 11

Achondroplasia

Front 12

The clinical findings seen in achondroplasia is due to what? Which is the result of what gene mutation?

Back 12

• Impaired proliferation of cartilage at the growth plates
• Due to mutation of the FGF-R gene.

Front 13

AD or Autosomal recessive (severe)
• Deficiency of osteoclasts
• Normal balance of osteoblasts making bone & clasts breaking down bone is disrupted favoring increased bone formation
•  Overgrowth and sclerosis of cortical bone "too much bone"

Back 13

Osteopetrosis

Front 14

What is the 1º defect in osteopetrosis? What is the inheritance? What is the Tx?

Back 14

• Balance of osteblasts & clasts is disrupted, favoring ↑ bone formation.
• Inheritance can be AD (less severe) or Recessive (severe)
• Tx: bone marrow transplant

Front 15

What are the clinical findings of osteopetrosis?

Back 15

•Pathological frax
• Anemia (bone marrow is replaced)
• Visual & hearing loss (cranial nerve compression)

Front 16

What is the most common site of infx in osteomyelitis of children?
What is the most common route of spread?

Back 16

• Tibia & Fibula
• In children: hematogenous spread

Front 17

What is the most common bug that causes osteomyelitis?

Back 17

• Staph aureus

Front 18

Osteomyelitis in the vertebral column after TB infxn is called?

Back 18

• Potts disease

Front 19

Is osteomyelitis: devitalized bone is called ______
• Reactive bone formation in the periosteum is called ______
• An area draining the infected area is called _____

Back 19

• Sequestrum (devitalized bone)
• Involucrum (newly formed bone)
• Sinus tract

Front 20

Treatment for osteomyelitis due to staphylococcus aureus (in neonates) is:

Back 20

• 3rd generation cephalosporin (ceftazisime) & vancomycin parenterally for 2 weeks
• Continue on oral abx until CRP has normalized (usually ≥ 1 more week)

Front 21

Treatment for osteomyelitis in kids (must cover staphylococcus aureus and/or group A strep) is:

Back 21

• Vacomycin (+ Nafcillin if in an area w/ < 10% MRSA) parenterally for 2 weeks
• Continue on oral abx until CRP has normalized (usually ≥ 1 more week)

Front 22

Most comon metabolic abnormality of bone. More common in ♀ than ♂.
• ↓ Bone mass & density.
• Radiograph shows a washed out appearance.

Back 22

Osteoporosis

Front 23

Osteoporosis can be caused by ___ in estrogen and ____ in cortisol/corticosteroid use.

Back 23

↓ in Estrogen. ↑ in cortisol/corticosteroid use

Front 24

What are the most common clinical findings associated with osteoporosis?

Back 24

• Compression fractures of the vertebral bodies
• Colles fracture of the distal radius
• Dowager's hump

Front 25

What is test is the best for the dx of osteoporosis?

Back 25

• Dual photon absorptiometry (Bone density scan)

Front 26

What is the treatment for osteoporosis?

Back 26

• First line: Bisphosphonates
• Calcitonin inhibits osteoclasts
• Calcium & vitamin D supplements

Front 27

A complication of an subcapsular fracture that disrupts the blood supply to the head of the femus is ___?

Back 27

• Avascular necrosis

Front 28

Aseptic necrosis of the femoral head
• Occurs in boys ages 3-10 years
• Presents with pain in the knee or a limp

Back 28

Legg-Calve Perthes disease

Front 29

Aseptic necrosis of the ossification centers in children

Back 29

Osteochondrosis

Front 30

• Affects physically active boys 11-15 yo.
• Painful swelling at the tibial tuberosity
• Inflammation of the proximal tibial apophysis at insertion of the patella tendon

Back 30

Osgood-Schlatter's disease

Front 31

• ♂ > 50 yo.
• Targets pelvis, skull (enlarged), femur
• Early phase of osteoclastic resorption of bone
• Late phase of ↑ osteoblastic bone formation

Back 31

Paget's disease of the bone

Front 32

What disease is characterized by ↑ serum alkaline phosphatase (normal Ca++ and phosphorus)
• Production of thick, weak bone (mosaic bone)

Back 32

Paget's disease of the bone

Front 33

Pts is a 50 yr old male. Complains of "bone pain" and noticed that he can't wear his hats (they are too small). What disease does he have?

Back 33

Paget's disease of the bone

Front 34

What are the risks associated with Paget's disease of the bone? What is the Tx?

Back 34

• Pathological fractures
• ↑ risk for osteosarcomas
• ↑ risk for high output heart failure (due to arteriovenous connections in vascular bone)
• Bisphosphonates & Calcitonin

Front 35

Bone tumor: characterized as an outgrowth of bone (exostosis) capped by benign cartilage
• ♂ 10-30 yo (solitary or multiple)
• Most comonly at the metaphysis of the distal femur
• Most common benign tumor

Back 35

Osteochondroma
(Benign)

Front 36

Tumor characterized by being multiple or solitary
• Equal distribution ♂ = ♀
• Most often locaed in the medulla in the small tubular obnes in the hands & feet

Back 36

Enchondroma
(Benign)

Front 37

Bone tumor usually in the facial bones
• Usually middle-aged ♀

Back 37

Osteoma (Hiserote)
(Benign)

Front 38

Tumor that appears on radiographs as having a radiolucent focus surrounded by sclerotic bone
• Nocturnal pain relived by aspirin
• Usually found in the cortex of the proximal femur
• 10-20 yo ♂

Back 38

Osteoid osteoma
(Benign)

Front 39

Tumor usually locaed at the epiphysis of the distal femur or proximal tibia
• Histology shows reactive multinucleated giant cells that resemble osteoclasts (neoplastic mononuclear cells)
• Usually in 20-40 yo ♀

Back 39

Giant cell tumor
(Benign)

Front 40

Tumor that appears on radiographs as having a radiolucent focus surrounded by sclerotic bone
• Nocturnal pain relived by aspirin
• Found in the *vertbrae*
• 10-20 yo ♂

Back 40

Osteoblastoma
(Benign)

Front 41

Malignant tumor that often metastasizes to the lungs
• Usually found in the pelvic bones/proximal femur
• 30-60 yo ♂

Back 41

Chondrosarcoma

Front 42

• Malignant tumor: radiographic findings "sunburst appearance" (spiculated pattern from calcified malignant osteoid)
• Codman's triangle (tumor lifting the periosteum)
• Often metasteses to the lung

Back 42

Osteogenic sarcoma

Front 43

• Bimodal incidence peaks: 10-25 yo ♂ & those w/ h/o Paget's disease (usually ♂ > 50 yo)

Back 43

Osteogenic sarcoma

Front 44

This is the most common 1º bone tumor
• Most often located in the metaphysis of the distal femur or proximal tibia

Back 44

Osteogenic sarcoma

Front 45

Risk factors for Osteogenic sarcoma are:

Back 45

Paget's disease, familial retinoblastoma, irradiation, fibrous dysplasia

Front 46

• Small round cell bone tumor
• Radiographs shows "onionskinning" appearance around bone (periosteal rxn)

Back 46

Ewing Sarcoma

Front 47

• Malignant bone tumor
• Usually located in the pelvic girdle, diaphysis and metaphysis of the proximal femur or rib
• 10-20 yo ♂

Back 47

Ewing Sarcoma

Front 48

Classification of synovial fluid: Non-inflammatory
Seen in: OA, neuropathic joint

Back 48

Group I

Front 49

Classification of synovial fluid: Inflammatory
• Seen in RA, gout

Back 49

Group II

Front 50

Classification of synovial fluid: Septic
• Seen in Lyme disease, disseminated gonoccocemia

Back 50

Group III

Front 51

Classification of synovial fluid: Hemorrhagic
• Seen in Trauma, hemophilia A & B

Back 51

Group IV

Front 52

• Non-inflammatory joint disease
• Occurs ♂ = ♀
•Usually > 65 yo
• Most common sites: Femoral head, knee, cervical & lumbar vertebrae

Back 52

Osteoarthritis

Front 53

What joint disease is characterized by progressive degeneration of the articular cartilage? What joints are most commonly affected?

Back 53

Osteoarthritis
• Weight bearing joints: femoral head, knee, cervical & lumbar vertebrae

Front 54

What joint disease shows cytokines that activate metalloprotineases that cause degradation of proteoglycans and collagen in the joint?

Back 54

Osteoarthritis

Front 55

In osteoarthritis what can be seen at the joint margins? What are joint mice?

Back 55

• Reactive bone formation can occur (osteophytes)
• Joint mice are fragments of articular cartilage that break free into the joint space

Front 56

What joint disease eventually leads to bone rubbing on bone (what is this term called) but NO ankylosis (fusion) of the joint? In severe cases there may be formation of ____ (fibrous synovial tissue) that covers the articular surface.

Back 56

• Eburnation
• Osteoarthritis
• Pannus

Front 57

What joint disease is characterized by pain, aggravated by activity, Herberden's nodes(enlargement of the ___ jonts), Bouchard's nodes (enlargement of the ___ jonts), and sometimes degenerative disk disease?

Back 57

• Osteoarthritis
• Herberden's nodes (enlargement of the DIP joints)
• Bouchard's nodes (enlargement of the PIP joints)

Front 58

This joint disease occurs most often in 30-50 yo ♀ and has an association with HLA-DR4

Back 58

Rheumatoid Arthritis

Front 59

The pathology of this disease is:
• B and T cells are activated leading to damage of synovial cells
• Synovial cells express an antigen that triggers B cells to produce an auto-Ig
• The IgM autoantibody that has specificity for the Fc portion of IgG.
• The auto-antibody and IgG form immunocomplexes (type III hypersensitivity)
• Immunocomplexes activate the complement system to produce C5a, a chemotactic agent for neutrophils and other leukocytes to enter the joint space.
• Chronic synovitis and pannus formation eventually occur
•  Pannus (granulation tissue): releases cytokines that destroy articular cartilage
• Repair by fibrosis causes fusion of the joint (ankylosis)

Back 59

Rheumatoid Arthritis

Front 60

What is pannus?

Back 60

Pannus is granulation tissue that is formed within the synovial tissue by fibroblasts and inflammatory cells. ALWAYS seen in RA often seen in late-stage OA

Front 61

What joint disease shows the Swan neck deformity (which is?) and Boutonniere deformity?

Back 61

Rheumatoid Arthritis
• Swan neck deformity: Flexion of the DIP joint & extension of the PIP joint

Front 62

How is Rheumatoid arthritis both a type III and type IV immune-mediated process?

Back 62

Type IV: B & T-cells are activated leading to the damage of synovial cells
• Type III: Synovial cells express an antigen that triggers B-cells to produce rheumatoid factor (RF). RF is an IgM autoIg that has affinity for the Fc potion of the IgG --> IgG and RF join together to from immune complexes (Type III rxn)

Front 63

What disease causes ulnar devation of the hands and prominent swelling of the 2nd & 3rd metacarpophalangeal joitns?

Back 63

Rheumatoid Arthritis

Front 64

What disease is pictured? Specifically what is this called? What is it due to?

Back 64

Gout
Podagra

Due to the build up of monosodium urate crystals in the joint

Front 65

What disease is pictured? What specific condition is pictured? What is this caused by?

Back 65

Gout
Tophi in the soft tissue in the joints of the hand
Caused by the build up of monosodium urate crystals in the joints

Front 66

What is shown? What disease is this a feature of?

Back 66

"Pencil in cup deformity"
Characteristic of psoriatic arthritis

Front 67

What is shown? Describe the tubes from L to R.

Back 67

Synovial fluid tubes
From left to right
#1 normal
#2 noninflammatory (e.g., osteoarthritis)
#3 inflammatory (e.g., rheumatoid arthritis)
#4 septic (e.g., gonococcal septic arthritis),
#5 hemorrhage (e.g., trauma, hemophilia A)

Front 68

What is shown? In what disease does this occur?

Back 68

Synovial fluid crystals w/ red filter in place

(1) Crystals are monoclinic (needle shaped) and could be either monosodium urate or calcium pyrophosphate, (2) if crystal is yellow when parallel to the slow ray of the compensator, it is monosodium urate and defines negative birefringence, (3) if crystal is blue when parallel to the slow ray of the compensator, it calcium pyrophosphate and defines positive birefringence

Front 69

What disease is shown? What does the blue show? Red?

Back 69

Blue stains cartilage and red bone, note how the articular cartilage is worn down and fibrillated in areas (perpendicular cracks), note the osteophyte at the margin of the joint

Front 70

What disease process is shown?

Back 70

Osteoarthritis

X-ray of head of femur removed at surgery, note the subchondral bone cysts beneath the surface

Front 71

What disease process is shown? What are the two types of nodes called?

Back 71

Osteoarthritis:

Note the enlargement of the DIP (Heberden's nodes) and PIP joints (Bouchard's nodes), enlargements represent osteophytes

Front 72

What disease is shown? How is this apparent?

Back 72

Osteoarthritis
Note x-ray of hands and OA in the DIP and PIP joints, note the narrow joint space in the femoral joint and sclerotic changes

Front 73

What is shown?

Back 73

Charcot (neuropathic) joint
Note enlarged knee on your right (patient left knee)

Front 74

What disease is shown?

Back 74

Rheumatoid arthritis (RA) note the enlarged MCP joints

Front 75

What disease is shown? What are the distinguishing characteristics?

Back 75

RA
Note symmetrical involvement in both hands with enlarged MCP joints and ulnar deviation

Front 76

What deformity is shown? What disease is this seen in?

Back 76

• Boutonniere deformity of digit - note extension of DIP joint and flexion of PIP joint
• RA

Front 77

What deformity is shown? What disease is this seen in?

Back 77

• Swan-neck deformity of digit - note flexion of DIP joint and extension of PIP joint
• RA

Front 78

What is shown? Seen in what disease?

Back 78

• Rheumatoid nodules on extensor surface of forearm, example of fibrinoid necrosis (same lesions seen in acute rheumatic fever)
• RA

Front 79

What is shown? In what disease?

Back 79

• Podagra: note inflamed first metatarsophalangeal joint (big toe)
• Gout

Front 80

What disease is pictured?

Back 80

• Gout
• Note large tophus on malleolus and along margin of the foot, sign of chronic gout, composed of crystalline material (H and E shows multinucleated giant cell reaction to the MSU crystals)

Front 81

What is shown? Characteristic of what disease?

Back 81

• Polarization of tophus showing MonoSodium Urate crystals
• Gout

Front 82

What disease is shown?

Back 82

• Gout
• X-ray of digit showing erosive joint disease in bottom digit

Front 83

What sero-negative spondyloarthropathy could be shown here?

Back 83

• Reiter's syndrome
• Patient with non-infectious conjunctivitis, previously had Chlamydia trachomatis infection and then developed conjunctivitis and arthritis (HLA B27 positive)

Front 84

What sero-negative spondyloarthropathy is shown? What are the common features?

Back 84

• Psoriatic arthritis
• Note disabling arthritis of the hands
• Nail pitting is commonly present (not present in photo)

Front 85

What seronegative spondyloarthropathy is shown?

Back 85

Septic arthritis due to disseminated gonococcemia Note the hot knee and the pustule on the wrist

Front 86

What sero-negative spondyloarthropathy is shown?

Back 86

• Septic arthritis
• Note the gram negative diplococci in the neutrophil

Front 87

What disease is shown? What is notable in the top image? The bottom?

Back 87

Scleroderma
• Tight facial features & telangiectasias on the skin
• Raynaud's phenomenon

Front 88

What is disease? What is notable around the eye? The hand? What diagnostic test can be done?

Back 88

Dermatomyositis
• Heliotrope (purplish discoloration around the eyes) pathgnomonic
• Gottron's patches are noted over the PIP joints and the
• Diagnostic test: muscle biopsy shows a lymphocytic infiltrate, CK levels are always increased

Front 89

What disease is pictured? What maneuver? What protein is defective?

Back 89

• Duchenne's muscular dystrophy
• Gower's maneuver (the child is pushing himself up from the down position)
• SXR disease with deficiency of dystrophin
• Note the pseudohypertrophy of the calf muscles

Front 90

What disease is pictured? What is its inheritance? What else is notable about its inheritance?

Back 90

• Myotonic dystrophy
• AD disorder
• Triplet repeat (problem with anticipation - disease gets worse in future generations)
• Note balding head and sagging face, patient's cannot relax their grip on something, cardiac disease/cataracts/ testicular atrophy are also present

Front 91

Describe type I muscle fibers

Back 91

• Slow twitch (red) fibers
• Slow contraction but repetitive
• Do not fatigue easily
• Example: paraspinal muscles
• Rich in mitochondira, myoglobin, oxidative enzymes
• Weak in ATPase enzymes.
mne: One slow fat red ox

Front 92

Describe type II muscle fibers

Back 92

• Fast twitch white fibers
• Fast contraction but fatigue easily
• Specialized for fine skilled movement
• Poor in mitochondria, myoglobin, oxidative enzymes
• Rich in ATPase enzymes
Ex: Extraocular muscles, muscles in the hand
mne: Two skinny white fast breasts

Front 93

What determines fiber type of a muscle?

Back 93

Innervation

Front 94

What muscle disorder is X-linked recessive and is the result of an absence of dystrophin?

Back 94

• Duchenne's muscular dystrophy

Front 95

What disease is characterized by:
• Symptoms appearing at 2-5 yo
• Due to progressive degeneration of type I and type II fibers
• Infiltration of muscle tissue by fatty tissue

Back 95

• Duchenne's muscular dystrophy

Front 96

When do symptoms appear in Duchenne's muscular dystrophy? What muscles are affected? What are two key signs?

Back 96

• Symptoms appear 2-5 yo (usually boys)
• Weakness & wasting of pelvic muscles
• Gower's maneuver (child using hands on knees to stand) & pseudohypertrophy of calf muscles

Front 97

What are the lab findings in Duchenne's muscular dystrophy? What test is used to make the diagnosis?

Back 97

• ↑ Serum CK at birth
• Serum CK progressively declines as muscle degenerates
• ♀ carriers have ↑ levels of CK
• Muscle biopsy is used to make diagnosis

Front 98

What muscle disorder is AD and is the result of sever atrophy of Type I fibers?

Back 98

• Myotonic dystrophy

Front 99

Myotonic dystrophy is the result of atrophy of type I fibers. This is due to what genetic disorders? What is unique about its inheritance?

Back 99

• AD trinucleotide repeat (CTG) on long arm of chromosome 19
• Disorder shows anticipation

Front 100

What are some clinical features of Myotonic dystrophy?? What is the disease a result of?

Back 100

• Facial muscle weakness (sagging face)
• Percussion and grip myotonia (unable to relax muscles after a sustained grip)
• Frontal balding
• Testicular atrophy
• Cardiac involvement (conduction defects)