MS UWorld 1 Flashcards
Embryonic conditions associated with maternal diabetes
Caudal regression syndrome, congenital heart defects, neural tube defects
Infant born with flaccid lower extremities, absent ankle reflexes bilaterally. X-ray: poorly developed lumbar spine and sacrum. What is this and what maternal condition may be related?
Caudal regression syndrome: agenesis of sacrum and sometimes lumbar spine. Flaccid paralysis of legs, dorsiflexed contractures of feet, urinary incontinence. May cause anal atresia to sirenomelia (mermaid syndrome). Related to poorly controlled maternal diabetes
Mutations in Fas receptor/ligand can cause
Autoimmune diseases. Mutations can prevent apoptosis of autoreactive T-cells, leading to autoimmune disease.
Colchicine
Binds and stabilizes tubulin to inhibit microtubular polymerization, which disrupts membrane-dependent functions (chemotaxis, phagocytosis, degranulation). Aso reduces formation of Leukotriene B4
Used for acute gout and prophylaxis.
Side effects are nausea, diarrhea, abdominal pain
Treatment for acute gouty arthritis
NSAIDS
Glucocorticoids
Colchicine
Treatment for Lyme disease
doxycycline or penicillin-type antibiotics (ceftriaxone)
45 y/o woman with fatigue, swelling, pain, morning stiffness in multiple joints for > 6 months. Diagnosis, treatment for rapid relief, and long term.
Rheumatoid arthritis. Treat acutely with NSAIDS, corticosteroids (glucocorticoids, ie prednisone). Steroids work better, but only used short term because of side effects
Long term treatment with methotrexate, but it takes weeks to kick in
General rule: if calcium is ___, phosphorus is ___
high/low and low/high. Opposite!
What is PRPP synthetase involved in? What might an activating mutation cause?
Purine synthesis, defect can cause hyperuricemia, which can cause gout
Negatively birefringent crystals
yellow under parallel light, blue under perpenducular. Monosodium urate –> gout
What cells are primarily responsible for intense inflammatory response in gout? What drug tempers this particular effect?
Neutrophils, which phagocytose the monosodium urate crystals –> neutrophil chemotaxis and release of inflammatory cytokines
Note: this is blocked by colchicine
IP3 second messenger system
GDP –> GTP, Phospholipase C, DAG and IP3, DAG –> protein kinase C, IP3 –> Ca –> PKC, PKC phosphorylates things for effects
Type I collagen synthesis
Signal sequence directs growing polypeptide chain to ER, where signal sequence is cleaved and hydroxylation (vitamin C dependent) of lysines and prolines occurs. Selective lysines are glycosylated, pro-a chains are arranged into procollagen triple helix, which is secreted out in ECM. Terminal di-sulfide propeptides cleaved, and collagen fibrils spontaneously assemble. Finally, covalently cross-linked by lysyl oxidase.
Ehlers-Danlos syndrome
Mutations causing faulty collagen synthesis. Hypermobile joints, hyperextensible skin, tendency to bleed.
Goodpasture syndrome and myasthenia gravis are type ___ hypersensitivity disorders
Type II HSR - IgM an/or IgG antibodies bind to cell surface antigens and/or ECM components
Muscle weakness worst in hips and shoulders, difficulty rising from chairs and combing hair. MHC I overexpression on sarcolemma, CD8+ lymphocyte infiltration. Dx and lab findings
Polymyositis
elevated CK, ANA+, anti-Jo-1, anti-SRP, Anti-Mi2
Older patient with bone pain and increased alk phos, mosaic pattern of lamellar bone with haphazard prominent cement lines. Dx and cell type involved
Paget disease (osteitis deformans). Initial lytic stage is osteoclasts, followed by mixed clast and blast stage, then just blasts.
Classic triad of reactive arthritis. Symmetric? Upper/lower extremities? What does it follow? What HLA?
Conjunctivitis, urethritis, arthritis. Most common asymmetric inflammatory arthritis of lower extremities in young men. Post GI or non-gonococcal urethritis, HLA B27
Conjunctivitis, urethritis, arthritis, sacroiliitis in a young man
Reactive arthritis
Which ligament is damaged by forceful anterior motion of tibia with respect to femur? Posterior motion?
ACL, PCL