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Flashcards in Bone Deck (17):
1

What type of mutation is achondroplasia?

-gain of function AD mutation in fibroblast growth factor receptor 3

2

Osteogenesis Imperfecta

-defect in synthesis of collagen 1
-blue sclera

3

Osteopetrosis

-erlenmeyer flask shaped deformity
-tx: hematopoetic stem cell transplantation
-AD and AR types
-myelophistic process causes bone marrow to be depleted leading to anemia
-narrowing of cranial foramina

4

Paget's Disease

-excessive bone resorption followed by disorganized bone replacement
-may be due to infection with paramyxovirus and mutations of SQSTM1
-3 stages: osteolytic stage, mixed, and osteosclerotic stage
-inc. alk phos and hydroxyproline
-**mosaic pattern of lamellar bone**
-Beethoven may have had this (deaf after 40) (or neurosyphilis)

5

What part of the bone does hematogenous osteomyelitis typically affect?

The metaphasis

6

Sunburst sign on X Ray is indicative of:

Osteosarcoma

7

Ewing Sarcoma

A type of bone cancer arising within the marrow cavity.
Onion skin layering of new bone.
Diaphysis of long bones most affected.
Small, round, blue cells may form Homer Wright pseudo rosettes.
T(11;22) mutation in EWS/FLI1 common.

8

Heberden Nodes

Distal interphalangeal joint swelling due to osteoarthritis.

9

Bouchard Nodes

Proximal interphalangeal joint nodes due to osteoarthritis.

10

HLA associations with RA?

HLA DR4 and HLA DR1

11

HLA associated with spondyloarthopathies?

HLA B27

12

Triad of reactive arthritis.

Can't see, can't pee, can't climb a tree. I.e. Conjunctivitis, urethritis, and arthritis. Often follow venereal dz or dysentery.

13

Pseudogout

-Weakly birifringent rhomboid shaped crystals made of calcium pyrophosphate
-knee joint is commonly involved

14

When do you see a dry tap?

-aplastic anemia
-myelofibrosis
-hairy cell leukemia

15

Causes of aseptic necrosis of femoral head.

-long term corticosteroids
-may see bilateral hip pain

16

Pannus Formation

-layer of fibrovascular tissue or granulation tissue
-inflammation/proliferation of synovium leads to pannus and destruction of bone and cartilage
-associated with Rheumatoid Arthritis

17

Rickets

-rachitic rosary
-osteoblasts lay down excess osteoid but are unable to mineralize osteoid into mature bone without Vit D