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65 Cards in this Set
- Front
- Back
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TATA
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Regulatory binding site on DND
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transcription
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DNA to mRNA
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translation
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mRNA to protein
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DNA gyrase inhibitor
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quinolones
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30s ribosomal subunit antibiotics
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aminoglycoside and Tetracycline
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50s ribosomal subunit antibiotics
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clinda, macrolides, linezolid
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Metronidazole mechanism
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breaks DNA strands
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Rifampin mechanism
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blocks transcription RNA polymerase
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GNAS1 gene
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Fibrous dysplasia (GS-alpha produced in excess) increased cAMP due to upregulation of adenylate cyclase
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McCune Albright
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polyostotic fibrous dysplasia, precocious puberty, coast of Maine cafe au lait spots
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Mosaicism
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2 genotypes of cells in same organism (example polyostotic fibrous dysplasia)
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NF1
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Neurofibromatosis
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Multiple Myeloma
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chromosome 13; monoclonal plasma cells release PTHrP which activates RANK, leading to osteolysis, produces IgG
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Sox9/PAX1 transcription factor
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leads to stem cells becoming chondrocytes
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Cleidocranial dysplacia
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mutation of core binding factor 1CBFA/Runx; proportioned dwarf with no clavicle (that’s hard core)
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Give more prophylactic antibiotic if....
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EBL > 1000cc, >80 KG patient, > 4 hours
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Indications for dental prophy
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rheumatoid arthritis, immunocompromised- they should use forever
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Penicillin mechanism of action
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inhibit bacterial cell wall peptidoglycan synthesis
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Tetracycline mechanism
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blocks t-RNA binding to ribosome 30s subunit
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Issue with quinolones
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tendinopathy and ruptures
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Linezolid mechanism
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blocks initiation of translation (blocks protein synthesis)
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Vancomycin
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blocks bacterial cell wall synthesis
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FGFr3
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Achondroplasia (AD), Hypochondroplasia (AD); All FGFr3 lack organized physeal proliferative zone
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COMP (cartilage oligomeric matric protein)
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Pseudoachondroplasia (spine), Multiple Epiphyseal Dysplasia (no spine involvement) looks like bilateral Perthes; interesting rough ER the look like fingerprints mean COMP disorder
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PTHrP disease
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Jansen Metaphyseal Chondrodysplasia; have high calcium with calcified kidneys; severely disorganized metaphysis
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Collagen 1 diseases
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Osteogenesis Imperfecta; abnormal collagen cross linking
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Collagen 2 diseases
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Achondrogenesis (lethal at birth), Spondyloepiphyseal Dysplasia, Stickler: Pierre Robin face w/ micrognathia, bugeyes; All COL2 have precocious osteoarthritis and visual and auditory issues
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Collagen 2 diseases
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Kneist Dysplasia (dumbbell bones); COL2A1
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Collagen 10 diseases
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Schmid Metaphyseal Chondrodysplasia; normal appearing face (I’m smitten by her)
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Collagen X
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associated with mineralization- endochondral ossification by hypertrophic chondrocytes (rated X... makes you hard)
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Diastrophic Dysplasia
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sulfate transporter, DTDST (AR); hitchhikers thubs, Cauliflower ears (need a transporter so they hitchhike)
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Mucopolysacharidoses (GAG) Storage diseases
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GAG’s are chondroitin sulfate and keratin sulfate
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Worst prognosis GAG storage disease
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Hurler
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X-linked GAG storage disease
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Hunters
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GAG storage disease with psych issues
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Sanfilippo
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GAG storage disease with normal intelligence, survive to adulthood
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Morquios (Mork and Mindy)
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Osteopetrosis
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osteoclast function disorder; multiple genetic versions (Carbonic anhydrase II); Rx: marrow transplant or gamma interferon
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Ehlers Danlos
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Type 1,3,5 collagen; abnormal collagen and collagen linking
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Marfan Syndrome
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Fibrillin type I (AD) FBN1; superior lens ectopia
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Homocystinuria
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Cystathione beta synthase (AR) Marfanoid; inferior lens ectopia
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Structural protein defecits vs enzyme deficits
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Structural protein deficits tend to be autosomal dominant, whereas enzymatic deficits tend to be autosomal recessive
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X-linked recessive diseases
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X-linked dominant diseases
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Hypophosphatemic Rickets(vit D resistant rickets) renal PO4 wasting; father has it, and only his daughter will have it.
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HLA-B27 associated diseases
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Ankylosing spondylitis (90%); Reiter’s (70%), Colitis Spondylitis (50%)
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RANK-L
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increases osteoclast function; RANK-L (from osteoblast) binds to RANK (on osteoclast), stimulating it
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Osteoprotegrin
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decreases osteoclast function by binding RANK-L and preventing it from stimulating osteoclast
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CBFA1/RUNX
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growth factor that stimulates stem cells to become osteocyte
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Minimal Wear Rate that gives osteolysis
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< 0.1mm/year
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ALVAL
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metal on metal wear; Aseptic Lymphycyte Vasculitis-Associated Lesion; Cell mediated type-IV hypersensitivity
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antibody that crosses placenta
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IgG
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antibody in breast milk, tears, saliva
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IgA
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antibody produced earliest and in largest quantity
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IgM
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antibody associated with anaphylaxis
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IgE; Rx: epinephrine and diphenhydramine
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Rheumatoid Arthritis
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T-helper cells release cytokines IL-2, TNF-a, IFN-g; Rheumatoid Factor is an IgM to IgG; Anti-CCP is most specific lab test
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Lupus Erythematosus
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Antibodies to self; Antinuclear antibody (ANA); anti-Sm very specific;
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Finding in drug induced SLE
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anti-histone antibody
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TNF-alpha blockers for RA
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etanrcept (Enbrel), infliximab (Remicade), adalimumab (Humira); Hold for 2-4 weeks pre-op
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IL-1 blockers for RA
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anakinra receptor antagonist
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B cell antibodies for RA
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rituximab (Rituxan)
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Pelvic osteotomy in DDH?
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Pemberton or Salter osteotomy
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When is no treatment indicated in DDH?
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Bilateral over age 6 = leave alone; Unilateral over age 8 = leave alone
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What is normal acetabular index?
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<30 degrees
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Adolescent hip dysplasia
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Treatment is either non-op or surgical (PAO- periacetabular osteotomy = Bernese or Triple)
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Where does Salter osteotomy hinge?
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Pubic symphysis
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Where does peri-acetabular osteotomy hinge?
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posterior column (sciatic notch)
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