Genetics Flashcards
What ortho condition must be checked in a kid with multiple dislocating joints?
How do you screen for it?
Larsen’s
cervical kyphosis
C spine films
Kugelberg-Welander Disease
Type III SMA
- lives normal life expectance
Nusinersen
Drug inserted into thecal sac to treat SMA
2 Medications given for Duchenne?
What for?
ACEi-slows progression of cardiomyopathy
Steroids- slow progression of disease, prolongs ambulation and delays scoliosis
Difference btw Duchennes and Beckers
Duchenne - absent dystrophin protein
Beckers - dystrophin protein is decrease NOT absent
How to screen kid for Duchennes
CK- serum creatinine kinase
- elevated in Duchennes
When to fuse scoliosis in Duchennes
All develop once wheelchair bound Treat - if rapidly progressive - curve > 30 - before pulmonary function drops < 35%
bilateral acetab protrusio
marfans
Most common disease to have thoracolumbar kyphosis
- any consequence ?
Achondroplasia
- usually resolves when child starts to walk
Cranial issue in achondroplasia
- clinical consequence
foremen magnum stenosis
- can cause central sleep apnea and eventual sudden infant death
This gene encodes for a sulfate transporter protein
Mutation in the gene causes?
DTDST
Diastrophic dysplasia
Country with highest rate of Diastrophic Dysplasia
Finland
Lysozomal storage disease with accumulation of keratan sulfate
Morquio’s
Lysosomal storage disease with hypoplastic odontoid
- consequence?
Morquio’s
- C1/2 instability
Lysosomal storage disease with accumulation of heparan sulfate
San Filippo
Lysosomal storage disease with accumulation of dermatan/heparan sulfate
Hunter
Lysosomal storage disease with normal intelligence
Morquio
Lysosomal storage disease with accumulation of dermatan sulfate
Hurler
Mutation in COL1A1 and COL 1A2
OI
Most likely cause for myelopathic sx’s in patient with Osteogenesis Imperfecta
Basilar invagination
Medication for Osteogenesis Imperfecta
- what appearance can this cause on xray?
Bisphosphonates
- progressive sclerotic lines in metaphysis
How do you addres scoliosis in pt with OI
PSF
- anterior only beneficial if kid is really young ot prevent crankshaft
Medication given during bone crisis/pain in Sickle Cell pt
Hydroxyurea
Study used to help differentiate bone infarct from osteomyelitis in sickle cell
Bone scan and bone marrow scan
Infarct = decreased marrow uptake, abnormal bone scan
Osteomyelitis = normal marrow uptake, abnormal bone scan
Albers- Schonberg Disease
The most common form of osteopetrosis
- type II AD
Stills Disease
acute onset multiple joint juvenile arthritis
fever
rash
splenomegaly
Part of workup for newly diagnosed Juvenile Idiopathic Arthritis
Ophtho exam - uveitis
C spine flex/ex - atlantoaxial instability
How do you address scoliosis in Myelodysplasia?
Anterio and posterior fusion
- posterior is dysplastic so it needs the anterior help
Phenytoin effect on bone
causes impaired function of VitD
2 transcription factors involved in regulation of chondrocytes
Sox-9 - regulates chondrogenesis
PTHrH - delays differentiation of chondrocytes in hypertrophic zone
Nucleus pulposus is a remnant of what embryological structure ?
notochord
What process contributes most to longitudinal growth in endochondral bone formation?
chondrocyte hypertrophy
How do you address scoliosis in SMA
posterior only
Altered functioning of BMP-4 leads to ???
Stoneman Syndrome (Fibrodysplasia ossificans progressiva)
What does PCR amplify?
DNA
BMP’s belong to what signaling factor superfamily?
TGF-B
Low Intensity Pulsed US has been shown to be beneficial for which studied fractures?
Radial shaft
Distal radius
Scaphoid
Tibial shaft treated with a cast
Effect of gastric bypass on bone health
bypassing the duodenum will decrease Ca and VitD absorption
- supplement these pt’s with VitD and Ca
Effect of gastric sleeve on bone health
No change, duodenum is not bypassed
Effects steroids have on bone health
increase bone loss via
- decrease Ca absorption in small intestine thru decrease in binding protein
- decreases bone formation by inhibiting osteoblasts and decreasing collagen synthesis
What kind of bone forming properties does demineralized bone matrix have?
Osteoconductive
Osteoinductive (
What kind of bone forming properties does cortical/cancellous allograft have?
Osteoconductive only
- somehow the cells and proteins are nonviable to provide osteoinductive properties
What has the highest compressive strength of bone graft substitute?
Ca phosphate
- higher the triCa phos and cancellous bone
Iliac autograft has higher complication/pain with anterior or posterior ?
anterior
Method by which cancellous allograft is incorporated
Benefit?
Con?
Creeping substitution - osteoclast resporbs and osteoblast simultaneously lay it down
Benefit -> quick
Con -> no structural support
How is porous hydroxyappetite incorporated into bone?
Neovascularization and appositional bone growth
it is not resorbed by osteoclasts, the porosity allows osteoblasts to incorpate and start laying bone down
What workup should be done for a kid (say 3 yo) presents with trigger finger (not thumb)
Muccopolysaccharidosis
- this often present with trigger finger as first sign
