1 Flashcards
What is component of LPS is responsible for DIC and sepsis?
Lipid A
Phenotype of CAH due to 17 hydroxylase deficiency?
Ambiguous genitalia, decreased androgens, hypokalemia due to increased mineralocorticoids
How does propionyl coa become succinyl coa?
Propionyl CoA becomes methylmalonyl CoA via a carboxylase reaction (with biotin), methylmalonyl CoA becomes succinyl CoA via a mutase reaction with B12
Very first substate to be used in gluconeogenesis
Alanine creates pyruvate via ALT, pyruvate into gluconeogenesis
What does the drug PCP produce in users?
Aggression, amnesia, ataxia.
Trauma is most likely lethal outcome
Why add primaquine to plasmodium vivax/ovale infection?
To prevent relapse.
Thiazide diuretics effect on electrolytes
Hyponatremia (because medullary gradient is still intact), hypercalcemia
How does mutant huntingtin work?
A gain of function due to CAG expansion silences transcription via histone deacetylation (chromatin remains tightly wrapped).
What process uses DNA rearrangement?
VDJ recombination in B and T cells during development. Takes place in bone marrow and thymus
How is CFTR screwed up in CF?
3BP deletion that causes poor post-translational modification of the CFTR and proteosomal degradation.
Findings in down syndrome
Single palmar crease, prominant epicanthic folds, upwards turning eyes, flat nasal bridge.
Major findings in VHL
On chromosome 3 (microdeletion), 40% of VHL will have renal cell carcinoma. Hemangioblastoma and pheochromocytomas too.
What causes turner syndrome genotype
Most commonly paternal meitotic nondisjunction. Loss of X causes missing shox gene which is normally responsible for long-bone growth (so short stature)
Inheritance of Leber hereditary optic neuropathy
Mitochondrial
Two types of elastase in lungs?
What inhibits each type?
Neutrophil elastase, inhibited by alpha 1 antitrypsin.
Macrophage elastase, inhibited by tissue inhibitors of metalloproteinases.
Macrophage elastase degrades alpha 1 antitrypsin, and neutrophil elastase inhibits tissue inhibitor of metalloproteinase (TIMP.
C1 deficiency causes
Infection with encapsulated organisms. Often seen in SLE.
What is one of the major causes of SCID?
Adenosine deaminase deficiency, also IL2 receptor deficiency
Hb2a
Beta 2 delta 2. Increased in beta thalassemia minor, very increased in beta thalassemia major
Amifostene
Decreases nephrotoxicity from cisplatin and carboplatin
23S component of bacterial ribosome?
A component of the 50S subunit, responsible for creating peptide bonds during translation. Macrolides bind here.
MEN1
Parathyroid, pituitary, pancreas tumors
What drug causes a disulfiram reaction with alcohol?
Metronidazole
What does acute lung rejection cause?
CD8+ T cell mediated destruction of the lung vasculature
What does chronic lung rejection (years later) cause?
Bronchiolitis obliterans. Don’t confuse this with chronic renal transplant rejection, which does cause vascular destruction