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246 Cards in this Set
- Front
- Back
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tetrahydrobiopterin is a cofactor for the synthesis of...
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tyrosine, dopa, serotonin
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Fat soluble vitamins?
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KADE
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Vitamin A is for...
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Vision
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Vitamin D is for
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Bone calcification, ca homeostasis
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Vitamin K is for...
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clotting factors
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Vitamin E is for...
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antioxidant
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Water soluble vitamins?
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B, C, Biotin, Folate
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Urease cycle
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ornithine
[carbamoyl phosphate] citrulline [asparatate] arginosuccinate fumarate arginine urea |
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Von Gierke's Disease (Type I) deficiency
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G-6-Phosphatase
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Pompe's disease deficiency
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Lysosomal acid maltase (alpha-1,4-glucosidase)
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Cori's Disease (type III) deficiency
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Debranching enzyme, incl alpha-1,6-glucosidase
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McArdle's disease (type )
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Skeletal glycogen phosphorylase
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lead poisoning
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ferrochelatase and ALA dehydratase
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sickle cell mutation
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valine substitution for glutamic acid
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What uses tyrosine kinase-associated receptors pathway
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cytokines
growth hormone prolactin IL-E |
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What uses receptor tyrosine kinases
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Growth factor receptors
EGF, PDGF, FGF, etc. |
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Receptor tyrosie kinases use this signalling pathway
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MAP-kinase
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Tyrosine-kinase associated receptors use this pathway
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JAK/STAT
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Responsible for ensuring tRNA and aa are corectly paired
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aminoacyl-tRNA synthetase
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porphyria symptoms
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Painful abdomen
Pink urine (or tea-colored) Polyneuropathy Psychological Precipitated by drgs |
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porphyria cutanea tarda deficiency
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uroporphyrinogen decarboxylase
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acute intermitten porphyria
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porphobilinogen deaminase
(Scrubs - purple pee in sunlight, also van gogh) |
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lead poisoning deficiency
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ferrochelatase and ALA dehydratase
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start codon sequence
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AUG (start = inaugurate)
rarely GUG |
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stop codon sequence
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UGA = U Go Away
UAA = U Are Away UAG = U Are Gone |
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Urine turns black on standing
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alkaptonuria
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alkaptonuria deficiency
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tyrosine to fumarate
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Antidote for cyanide poisoning
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amyl nitrite
acts on hemoglobin to increase its affinity to cyanide |
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biotin is a cofactor for
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Carboxylation cofactor
1. Pyruvate -> Oxaloacetate 2. Acetyl-CoA -> malonyl-CoA (make fatty acids) 3. Prionyl-CoA -> methylmalonyl-CoA (degrade odd-chain fatty acids via B12) |
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Marfan's syndrome triad
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Fibrillin gene mutation, leads to:
Periosteum --> Skeletal abnormalities Lens --> Subluxation of lens Cardiovascular --> Dissection, aortic incompetence |
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Heme --> biliverdin
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Heme oxygenase
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jun is a
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transcription factor
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tetrahydropbiopterin is a cofactor for
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Tetrahydrobiopterin = BH4
Required for conversion of Phenylalanine Tryptophan Synthesis of tyrosine, dopa, serotonin |
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Wernicke-Korsakoff syndrome: cause
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Vitamin B1 deficiency
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lipoic acid is a required cofactor for these enzymes
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Pyruvate dehydrogenase
alpha-ketogluterate dehydrogenase branched-chain ketoacid dehydrogenase |
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Wernicke-Korsakoff syndrome triad (really a quartet)
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Confusion
Ophthalmoplegia Ataxia Associated with periventricular hemorrhage/necrosis, especially in the mamillary bodies |
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Thiamine dependent enzymes
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transketolase
pyruvate dehydrogenase alpha ketoglutarate dehydrogenase |
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Northern / Western / Southern blots for
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SNW
DRP |
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Vitamin A
[the one that...] [Function] [Deficiency] [Excess] |
Vitamin A
[The one that...] is in carrots [Function] [Deficiency] [Excess] |
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Prominent A?
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Right ventricular hypertrophy
Tricuspid stenosis |
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Prominent v?
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tricuspid regurg
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Prominent y?
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constrictive pericarditis
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P wave
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atrial depolarization
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PR segment
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conduction delay through AV node
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QRS complex
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ventricular depolarization
Also, masks atrial repolarization |
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T wave
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ventricular repolarization
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U wave
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caused by hypokalemia, metabolic acidosis
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Wolf-Parkinson-White Syndrome
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delta wave
Bundle of Ken bypasses AV node, causing early depolarization |
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Normal Pressures in Heart Compartments
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RA < 5
RV < 25/5 PA < 25/10 Lungs + LA < 12 LV < 130/10 Aorta = Normal BP |
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PCWP approximates...
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left atrial pressure.
Which is close to LV pressure in diastole, so it also approximates preload. |
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Tetralogy of Fallot tetralogy
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Pulmonary stenosis. RVH. Overriding aorta. VSD.
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Eisenmenger syndrome
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Reversal of L-R shunt.
VSD, ASD, PDA. |
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anterosuperior displacement of the infundibular septum causes...
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tetrology of fallot
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failure of aorticopulmonary septum to spiral causes...
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transposition of great vessels
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continuous machinelike murmur
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PDA
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What cardiac associations with 22q11 syndromes?
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truncus arteriosus
tetrology of fallot |
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Down syndrome cardiac associations
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ASD. VSD. PDA. Atrioventricular canal.
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congenital rubella cardiac associations
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ASD. VSD. PDA.
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Turner's syndrome cardiac associations
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coarct
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Marfan's syndrome cardiac associations
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aortic insufficiency / regurg
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diabetic mother cardiac associations
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transposition of great vessels
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aortic arch baroreceptors travel via
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CN X
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carotid sinus baroreceptors travel via
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CN IX
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atheromata
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= atherosclerotic plaque
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xanthoma
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deposits of lipid-laden histiocytes
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most common site of tendonous xanthoma
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Achilles
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Monckeburg arteriosclerosis
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benign artery calcification, usually radial or ulnar
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most common site for atherosclerosis
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abdominal aorta
coronary artery popliteal artery carotid artery |
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functions of NO
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vasodilator
inhibit platelet aggregation antiinflammatory |
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homocysteine is a biomarker for:
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Atherosclerosis
(oxidative stress vascular inflammation platlet adhesiveness) |
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How does estrogen mediate atherosclerosis risk?
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decreases LDL increases HDL
Normally protective, but HRT actually increases risk |
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red (hemorrhagic) infarct organs
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lung
intestine liver |
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pale infarct organs
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brain
heart kidney spleen |
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stable angina symptoms
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chronic angina pectoris, onset with exertion, relieved by rest
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stable angina EKG findings
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temporary ST depression. no permanent heart damage.
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Prinzmetal angina definition
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variant angina pectoris without atherosclerosis
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Prinzmetal angina EKG findings
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transient ST elevation
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definition of Syndrome X
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stable angina pectoris without atherosclerosis
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xerostomia (definition)
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dry mouth
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stunned myocardium (defn)
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prolonged dysfunction after return of normal blood flow
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hibernating myocardium (def)
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Chronic dysfunction w no blood flow
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best biomarker for MIs
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troponins
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Components of AV canal.
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ASD. VSD. Incomplete leaflets.
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holosystolic high-pitched "blowing murmur"
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mitral regurg
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crescendo-decrescendo systolic ejection murmur, sometimes with ejection click.
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aortic stenosis. pulmonic stenosis. (distinguish based on location and if changes occur on inspiration.)
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holosystolic murmurs
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mitral regurg.
tricuspid regurg. VSD. |
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late systolic murmur with midsystolic click.
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mitral prolapse (or tricuspid)
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high-pitched "blowing" diastolic murmur
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aortic regurg
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Opening snap and late diastolic murmur rumbling.
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Mitral stenosis
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How to distinguish mitral stenosis and tricuspid stenosis
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Tricuspid gets louder with inspiration
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How to distinguish btwn aortic and pulmonic stenosis?
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pulmonic stenosis OS becomes quieter with inspiration
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continuous machinelike murmur
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PDA
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most common primary cardiac tumor in adults
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myxoma
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most common primary cardiac tumor in children , and what is it assoicated with?
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rhabdomyomas (associated with tuberous sclerosis)
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most common heart tumor
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metastases
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Virchow's Triad
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stasis
hypercoagulability endothelial damage |
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electrical artenans
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cardiac tamponade
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bacterial endocarditis; clinical
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Fever. Roth's Spots. Osler's nodes. Murmur, new. Janeway lesions. Anemia. Nail-bed hemorrhage. Emboli.
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Libman-Sacks Endocarditis
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Lupus. Mitral valve stenosis. Vegetations on both sides of the valve.
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acute bacterial enocarditis organism
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Strep aureus
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subacute bacterial endocarditis organism
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viridans streptococcus
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Aschoff bodies
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rheumatic heart diseases
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Anitschkow's cells
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rheumatic heart disease
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Rheumatic heart disease infection
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group A beta-hemolytic strep
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most common valves affected by rheumatic heart disease
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mitral > aortic >> tricuspid
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SKIPPED: pericarditis p 236
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prostacyclin (PGI2)
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vasodilation
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ACh
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vasodilation
IF endothelial dysfunction -> opposite |
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EDHF
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vasodilation
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Endothelin 1
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vasoconstriction
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majority of ASDs are this type
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secundum
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parasternal lift indicates..
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dilated RV
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cor pulmonale
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RVH
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Kussmaul Sign - definition
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paradoxical JVD on inspiration
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Kussmaul Sign - diseases
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Constrictive pericarditis
Restrictive cardiomyopathy |
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Fixed Splitting
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ASD
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Wide Splitting
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pulmonic stenosis
RBBB |
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Paradoxical Splitting
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LBBB
Advanced aortic stenosis |
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sustained systolic impulse is palpable equivalent of
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S4
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severe chest pain boring to the back
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aortic dissection
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Link: stable angina, unstable, variant, syndrome X
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Stable angina : Syndrome X ::
Unstable Angina : Variant |
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Post-MI, neutrophils appear
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1-3 days
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Post-MI, macrophages appear
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3-10 days
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Post-MI, granulation tissue appears
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14 days
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Post-MI, scarring occurs
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> 3 mo
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Post-MI, yellow softening occurs
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~10 days
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Angiotensin II Function
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Sodium Reabsorption
Vasoconstriction Heart Contractility / Hypertrophy Aldosterone Sympathetic Thirst Vasopressin Increase K excretion |
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Aldosterone function
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Na retention
Intravascular volume |
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Chronic pressure overload causes ___ hypertrophy
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concentric
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Chronic volume overload ____ hypertrophy
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eccentric
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aortic regurg: primary hemodynamic abnormality?
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LV Pressure and Volume Overload
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dilated cardiomyopathy: Primary hemodynamic abnormality?
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LV Volume overload
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aortic stenosis: primary hemodynamic abnormality?
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LV Pressure Overload
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Mitral regurg: primary hemodynamic abnormality?
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LV Volume Overload
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parasternal lift indicates
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RV Hypertrophy or dilatation
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oligemia
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hypovolemia
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Kussmaul
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Constrictive pericarditis
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Cardiac tamponade
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+++ pulsus paradoxus
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no y descent
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cardiac tamponade
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no apical impulse
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severe pulmonary HTN
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palpable presystolic impulse
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S4
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parasternal lift
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RV Hypertrophy
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precordial heave
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RV Hypertrophy
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global ST elevation
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acute pericarditis
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Left axis deviation
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Inferior wall MI
Left anterior fasciular block LVH (sometimes |
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Right axis deviation
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RVH
Acute right heart strain (massive PE) Left posterior fasciular block |
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rheumatic fever
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mitral stenosis
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viral myocarditis causes...
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dilated cardiomyopathy
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bifid pulse
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Chronic Aortic regurg
HOCM |
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pulsus alternans
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low CO
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somatomedin
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Generated when GH acts on target tissues. Inhibits GH release.
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small cell carcinoma of lung often causes
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ectopic ACTH secretion
SIADH |
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orphan annie nuclei w psammoma bodies
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papillary carcinoma of the thyroid
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thyroid: infiltrates of lymphocytes w germinal center formation
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Hashimoto thyroiditis
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Conn syndrome
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too much aldosterone
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Addison disease
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low aldosterone and cortisol
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osteitis fibrosa cystica
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hyperparathyroidism
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insulitis is speciic for
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Type I Diabetes
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amylin deposition in pancreatic islets is specific for
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Type II diabetes
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insulinoma causes
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Whipple Triad
- hyperinsulinemia / hypoglycemia - CNS dysfunction - reversible CNS dysfunction w glucose |
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anastrazole
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[mech]
Aromatase inhibitor. [Clinical] metastatic breast tumor. |
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flutamide
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[clinical]
Prostate carcinoma [mech] Competitive inhibitor at testosterone receptor |
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Kallman syndrome
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[Clinical]
Delayed puberty and Anosmia. Central hypogonadism. Sometimes associated with midline defects. [Mech] Failure of migration of GnRH producing neurons from olfactory placode (outside CNS) to hypothalamus. |
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diabetes insipidus is caused by
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lack of ADH or no renal response to ADH.
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Hirschprung's disease
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Absence of colonic enteric innervation in parts of GI tract.
[First AID] * Failure of neural crest migration. * Assoc. Down's syndrome. * Constipation early in life. |
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neurocrines
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VIP
relaxation of smooth muscle, secretin-like actions GRP gastrin release-Vagus Enkephalins contraction of smooth muscle inhibit intestinal secretion of fluid / electrolytes |
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Zollinger-Ellison syndrome
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gastrinoma
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Metabolism of 1 g / protein produces
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4 calories
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Metabolism of 1 g / fat produces
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9 calories
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Sjogren's syndrome
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1. Dry Eye / Conjunctivitis
2. Dry mouth / Dysphagia 3. Rheumatoid Arthritis |
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Crohn disease
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Chronic inflammatory condition, any part of GI tract. Usually terminal ileum and colon, and small intestine.
Spares rectum. Transmural inflammation. Skip lesions. Cobblestone appearance. Creeping wall fat. Bowel wall thickening ("string sign" on barium swallow). Noncaseating granulomas. 20-30 yo most common. Tx: Corticosteroids |
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Merkel diverticulum
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Remnant of embryonic vitelline duct in the distal small bowel. Main contain gastric, duodenal, colonic, or pancreatic tissue. Most common congenital anomaly in GI tract!
[Clinical] Usually asymptomatic. Ulceration / Perforation. Intussusception. Volvulus (twisting of GI tract) [Rule of 2's] 2 inches long. 2 feet from ileocecal valve. 2% of population. Presents in first 2 years of life. May have 2 types of epithelia. (e.g. gastric + pancreatic) |
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Peutz Jegher syndrome
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Hamartomous polyps in colon, small intestine.
Melanic accumulation in mouth, lips, hands, genitalia. Increased ropensity for colon adenocarcinoma, and cancer overall. |
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tubular adenoma
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Most common adenomatous polyp. Small and pedunculated.
Contains malignant polyps, most lkely to go to adenocarcinoma. |
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Plummer-Vinson Syndrome
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The one with esophageal webbing.
(Super Mario meets Spiderman) 1. Dysphasia 2. Glossitis 3. Iron deficiency anemia |
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Zenker diverticullm
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Herniation at pharynx / esphagus junction.
False diverticulum. 1. Halitosis 2. Dysphagia 3. Obstruction |
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duodenal atresia
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[TOW] "double bubble"
Early vomiting. Due to failure of recanalization of small bowel. |
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meconium ileus
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[TOW] meconium plug, cystic fibrosis.
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low ceruloplasmin
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Wilson's disease
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|
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Gardner's syndrome
|
Familial adenomatous polyposis, WITH
Bone/Soft Tissue Tumors Retinal Hyperplasia |
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Turcot's Syndrome
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Familial adenomatous polyposis, WIT
Brain involvement (glioblastoma) |
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"olive mass" with projectile vomiting at 2 weeks of age
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congenital pyloric stenosis
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|
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Whipple's disease
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[TOW] malabsorption due Tropheryma whippelli
[Clin] Arthralgia Cardiac/Neurologics Older men [Dx] PAS-positive macrophages in intestinal lamina propria, mesenteric nodes |
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Menetrier's disease
|
[TOW] big rugae
[1AID] Gastric hypertrophy with protein loss. Parietal Cell atrophy. Lots mucous cells. Precancerous. |
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Type A gastritis affects
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fundus
|
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Type B gastritis affects
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antrum
|
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Budd-Chiari Syndrome
|
[TOW] syndrome produced by occlusion of IVC or hepatic vein
Ab Pain Jaundice Hepatosplenomegaly |
|
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Gilbert syndrome
|
[TOW] you have crappy bilirubin uptake in the liver, and lousy glucoronyl transferase
Elevation of unconjugated bilirubin. NO CLINICAL CONSEQUENCES. |
|
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Crigler-Najjar syndrome
|
[TOW] You have no glucuronyl transferase.
|
|
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Dubin-Johnson
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[TOW] broken bilirubin transport
|
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MAP kinase pathway
|
SOS
GDP RAF MAP Kinase |
|
|
delta-aminolevulinic acid is high in this disorder, and required this cofactor
|
Lead poisoning.
Requires pyridoxical phosphate. |
|
|
Heart - patchy necrosis with granulation tissue
|
ischemic damage
|
|
|
Sarcoidosis
|
GRAIN
Gammaglobulinemia Rheumatoid arthritis ACE elevated serum levels Interstitial fibrosis Noncaseating granulomas |
|
|
Reiter's syndrome symptoms
|
"Can't pee, see, or climb a tree"
1. Conjunctivitis and anterior uveitis 2. Urethritis 3. Arthritis Post-GI or chlamyid infections. No RF. Associated with HLA-B27. More in men. |
|
|
C1 esterase inhibitor
|
Normally inhibits both C1 and kallikrein. Leads to angioedema if deficient.
|
|
|
killed vaccines result in this kind of immunity
|
humoral imunity only
|
|
|
live attenuated vaccines induce this kind of immunity
|
humoral and cell mediated
|
|
|
killed polio vaccine
|
Salk
|
|
|
ataxia-telangiectasia
|
Ataxia
Abnormal eye movement Ocular telangiectasias Radiation sensitivity Diabetes Repeated lung infections High risk for malignancy Mechanism: Broken DNA repair enzymes |
|
|
Henoch-Schonlein Purpura
|
Triad:
1. Skin rash (palpable purpura) 2. Arthralgia 3. GI - pain, hemorrhage, melan |
|
|
1. Polymorphous skin eruption
2. Strawberry tongue 3. cervical lymphadenopathy 4. Edema in hands/feet 5. Desquatmation of fingers/toes |
Kawasaki's disease
|
|
|
1. Necrotizing granulomas in lungs / upper airways
2. Necrotizing glomerulonephritis. 3. Sinusitis/rhinitis |
Wegener's granulomatosis
|
|
|
Churg-Strauss Syndrome
|
p-ANCA
Granulomatous vasculitis eosinophilia |
|
|
c-ANCA is a marker for
|
Wegener's granulomatosis
|
|
|
p-ANCA is a marker for
|
Churg-Strauss
Microscopic polyangiitis |
|
|
pulseless disease aka
|
Takayasu's arteritis
|
|
|
Takayasu's arteritis clinical
|
"FAN MY SKIN on Wednesday"
Fever Arthritis Night sweats Myalgia SKIN Nodules Ocular disturbances Weak pulses on upper extremities |
|
|
Giant Cell Arteritis
|
1. Headache
2. Visual disturbances 3. Polymyalgia rheumatica ELDERLY FEMALES |
|
|
Buerger's disease
|
* Small and medium vessles.
* SMOKERS Symptoms 1. Intermittent claudication 2. Superficial nodular phlebitis 3. Raynaud's 4. Pain Leads to gangrene Treatment 1. Stop smoking |
|
|
Eczema
Recurrent infections Thrombocytopenia purpura |
Wiskott-Aldrich Syndrome
Remember "Rich" Low IgM High IgA |
|
|
What do Th1 cells make?
|
IL-2, IFN-gamma
|
|
|
What do Th2 cells make?
|
IL-4, IL-5
|
|
|
What do macrophages make?
|
IL-1
IL-6 IL-8 IL-12 TNF IFNα |
|
|
What do B cells make?
|
Igs
IFNalpha IL-12 |
|
|
Chronic granulomatous disease is deficient in this enzyme
|
NADPH Oxidase (or similar)
|
|
|
myeloperoxidase deficiency
|
similar to chronic granulomatous disease
|
|
|
DiGeorge syndrome
|
Aberrant development of 3rd/4th branchial arches
B-cells normal. T-cell lmphopenia Clinical: Recurrent viral/fungal infections, sometimes tetany from hypocalcemia |
|
|
Tree-bark ascending aorta
|
tertiary syphilis
|
|
|
"flea-bitten"kidneys
|
petechial hemorrhages on kidneys, probably from maligant hypertension
|
|
|
Takayasu arteritis
|
"pulseless disease"
Med/Large Arteritis * Granulomatous thickening of aortic arch, proximal great vessels * Females < 40 yo SF WOMAN Skin nodules Fever Weak pulse Ocular Myalgia Arthritis Night sweats |
|
|
Kawasaki disease
|
Small/medium vasculitis
Branches of the coronary arteries affected 1. Strawberry tongue 2. Cervical lymphadenopathy 3. Polmorphous skin eruption 4. Edema in hands/feet 5. Desquamation in fingers, toes Complication: CORONARY ANEURYSM |
|
|
croup bug
|
paramyxovirus
|
|
|
sarcoidosis symptoms
|
GRAIN
Gammaglobulinemia (+ hypercalcemia) Rheumatoid arthritis? ACE Increase Interstitial fibrosis Noncaseating granulomas (Th1) |
|
|
Kartagener syndrome
|
sinusitis
bronchiectasis situs inversus primary ciliary dyskinesia |
|
|
bronchiectasis
|
Permanent abnormal bronchial dilatation
|
|
|
Major chemical mediator for bronchospasm in allergic asthma
|
LTD4 (leukotriene D4)
|
|
|
bosentan
|
Vasodilator
Competitive antagonist of endothelin receptors. Treat: Pulmonary HTN |
|
|
Gram + lancet shaped diplococci
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Streptococcus pneumoniae
|
|
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Opportunistic fungal infections
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Candida albicans
Aspergillus fumigatus Cryptococcus neoformans Mucor and Rhizopus spp. Pneumocystis jiroveci Can asps cry mucus? Rise pneumo! |
|
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cherry red epiglottitis
|
haemophilus influenzae
|
|
|
What bugs cause Secondary bacterial pneumonia after influenza infection in >65 yo
|
1. Strep pneumonia
2. Staph aureus 3. Haemophilus influenzae |
|
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alkaline phosphatase is a marker for
|
osteoblast activity. bile duct.
Paget disease Osteosarcoma |
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McCune Albright
|
multiple unilateral bone lesions
precocious puberty cafe au lait spots |
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high erum creatinine kinase
|
Duchene Muscular Dystrophy
Becker muscular dystorphy |
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edrophonium
|
test for myasthenia gravis, blocks acetyl cholinesterase
|
|
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increased hat size
|
Pagets disease of bone
|
|
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Adolescent.
Codman triangle. (periosteal lift) Spiculated "sunburst" on x-ray. Pain, swelling, fracture around knee. |
osteosarcoma
|
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acanthosis
|
thickening of epidermis
|
|
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psoriasis pathology
|
Silvery scaling plaques and papules.
Acanthosis with parakeratototic scaling. More stratum spinosum. Less stratum granulosum. Autoimmune. |
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acantholysis
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epidermal cells separate
|
|
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hyperkeratosis
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stratum corneum thicening
|
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sacral agenesis, bilateral flaccid paralysis, absent ankle reflexes
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caudal regression syndrome (often from uncontrolled maternal diabetes)
|
|
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ulcer with central black eschar surrounded by edema. vesicular papule.
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anthrax
|
|
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Percentages within Standard deviations of mean
|
68% 1 deviation
95% 2 deviation 99.7% 3 deviations |
