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Flashcards in MSK Pathology Deck (115)
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1

Achondroplasia is a defect in

cartilage = failure of long bone growth

2

Specific achondroplasia mutation

Autosomal Dominant Mutation of fibroblast growth factor receptor (FGFR)--short arm of chromosome 4

3

Achondroplasia presentation

Short arms and legs (endochondral ossificaiton), normal torso and head (intramembranous ossification is unaffected)

4

Osteogenesis imperfecta defect

AD mutation resulting in defective Type I collagen synthesis

5

The classic triad of OI- type 3

Multiple Fractures in strange places Blue sclera Hearing loss (inner ear bones Fx)

6

Examples of type 1 collagen

tendons, ligaments, the endomysium of myofibrils, interstitial stroma, the organic part of the bone, the dermis, the dentin, and organ capsules.

7

Labs for Osteopetrosis

Pancytopenia 

8

2 Neuro complications of osteopetrosis

Vision/hearing impariment due to compression of nerves by foramina

9

Pathogenesis of osteopetrosis. Mechanism?

Lack of osteoclast function

10

Rickets/Osteomalacia defect

Excessive unmineralized osteoid; bad quality bone

11

MCC of Rickets/OM

Vitamin D deficiency 

12

Osteomalacia lab values (Ca, Phos, PTH, Alk Phos)

Low Ca and Phos (low vitD) High PTH High Alk Phos (osteoblasts are driven by PTH. They are still working fine)

13

Osteoporosis is a reduction in

Trabecular bone mass (endosteal and periosteal resorption)

14

3 major Risk factors for osteoporosis

weight bearing exercise, menopause, Age

15

Effect of estrogen on bone development

Estrogen inhibits RANK, Loss of estrogen after menopause = more active osteoclasts

16

2 fracture-related complications of osteoporosis

Vertebral compression Fx Hip Fx 

17

besides vertebral fractures which vertebral complications do osteoporosis pts have

Kyphosis and decreased height

18

Osteoporosis labs (Ca, Phos, PTH, alk phos)

All normal! Normal labs in the face of bone pain distinguishes this from osteomalacia

19

Paget disease of bone underlying problem

Imbalance b/w osteoblasts and osteoclasts (too much), viral infection, genetics

20

paget disease progression

Overactive osteoclasts --> osteoclasts start burning out --> osteoblasts activate --> lay down poor structure bone

21

A 58-year-old male patient reported to the dental hospital with a complaint of difficulty in vision.

History revealed that there were swellings in the skull bones, which started 6 years back. All swellings gradually increased in size. X-Ray skull attached. Diagnosis?

 

Pagets

22

4 classic SSx of paget's disease of bone

Bone Pain Hearing loss/ Vision changes Increasing hat size Coarsening of facial features

23

Characteristic lab abnormality in paget's disease

Isolated elevated ALk Phos with everything else normal

24

histology of paget's

mosaic pattern of lamellar bone

25

2 major complications of paget disease

High output heart failure, Osteosarcoma

26

location of hematogenous osteomyelitis in kids (< 2 years) vs adults

Kids = epiphysis, Adults = metaphysis

27

MCC (most common cause) of osteomyelitis overall

S. aureus

28

MCC of osteomyelitis in diabetic or IV drug user

Psudomonas

29

MCC of osteomyelitis in sickel cell

salmonella typhi

30

Xray appearance of osteomyelitis

Lytic bone lesion surrounded by sclerosis (lytic lesion = sequstrum) (sclerosis = involurcrum)

The diagnosis is strongly suggested by the characteristic radiographic findings of a lytic focus of bone destruction surrounded by a zone of sclerosis.