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98 Cards in this Set

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22q11 syndromes
CATCH22: Cleft palate, Abnormal faceis, Thymic aplasia --> T-Cell deficiency, Cardiac defects (Truncus, Tetralogy of Fallot), Hypocalcemia
cause of cleft palate
malformation of intermaxillary segment (primary palate) and maxillary prominences (secondary palate)
cause of cleft lip
improper fusion of maxillary prominence (also a/w cleft palte) and medial nasal prominence (cleft lip only)
what dz is associated with low AFP
down syndrome
elevated AFP seen in (3)
multiple gestation, neural tube defects, abdominal wall defects, yolk sac tumors
small gap near tip of long arm of x chromosome
fragile x syndrome
two sample t-tesat vs chi square test
two-sample t-test (or z-test) used to compare two means; chi-square used to compare two proportions
exposure odds ratio vs relative risk vs prevalence odds ratio
relative risk for cohoRt studies; exposure odds ratio in case-contrOl studies; prevlaence odds ratios in cross-sectional studies (compare prevlaence across populations
ataxia-telangiectasia vs digeorge syndrome
can have thymic hypoplasia in both (??), but only digeorge has dec Ca (absence of parathyroid glands)
immunodeficiency w/ delayed separation of umbilicus
leukocyte adhesion deficiency (LAD) -- impaired migration of neutrophils b/c of defect in beta-2 integrin --> bacterial infections ('neutrophils needed to "eat up" umbilical stump')
immunodeficiency w/ partial albinism
chediak-higashi (microtubular dysfunction --> prevents lysosomal emptying --> NK dysfunction?)
bruton's (x-linked) agammaglobulinemia vs CVID
both caused by defect in B-cell maturation --> Ig deficiencies; Bruton's, however, also has decreased B-Cells
lactase deficiency: effects on stool osmotic gap, pH
pH decreases (bacterial metabolism of lactose --> hydrogen release); as undigested lactose replaces electrolytes in stool, osmotic gap increases
arteries near superior and recurrent laryngeal nerves
superior layrngeal nerve: superior thyroid artery; recurrent layrngeal nerve: inferior thyroid artery
apical holosytolic murmur radiating to axilla
why don't calcium channel blockers work on skeletal muscle
CCBs block voltage-gated calcium channels, which are necessary for smooth muscle contraction but not for skel muscle (calcium comes mostly from intracell SR stores)
effect of nitro in angina
venodilation --> dec cardiac preload --> dec myocardial demand
coronary vasodiliatation in stable angina (eg via adenosine)
NOT ADVISED b/c of coronary steal phenomenon: blood will preferentially perfuse vasodilated coronaries (thrombotic artery can't dilate)
indicator of osteoblast activity
serum bone-specific alk phos levels
liver vs bone alk phos
"bone burns" -- denatured by heat
measures of osteoclastic activity
in order of usefulness: urinary doxypyridinoline > urinary hydroxyproline > TRAP; (first 2 are collagen breakdown products during osteoclastic resorption of bone)
maneuvers that exacerbate HOCM murmur
decrease preload (eg sudden standing) --> cause decreased LV filling --> increased obstruction of outflow; examples include SUDDEN STANDING and VALSALVA
role of aldolase B
metabolizes F-1-P to G-3-P and DHAP (fructose metabolism)
which protein kinase downstream of Gs?
Gs --> Adenylate cyclase --> cAMP --> protein kinase A; ("all the A's: Adenylate, cAmp, pkA")
Gq mechanism
Gq --> PIP2 --> IP3 and DAG; IP3 --> inc Ca++; DAG -->PKC ("I Peed 3 Calciums…. DAG, did you relaly Pee (k) C???")
role of 3-5' exonuclease
proofreading of DNA polymerase III
four dimorphic fungi and distinguishing features
SPOROTHRIX (thorn prick --> subq nodules along lymphatics; round cigar-shaped budding yeast); COCCIDIOIDES (SW soil --> TB-like resp infec; 25'C: hyphae w/ doubly reflective wall, 37'C: *spherules* w/ endospores); HISTOPLASMA (miss r., caves--batshit; TB-like infec; 25'C: branching hyphae, 37'C: oval yeast *within macrophages*); BLASTOMYCOSES (miss r., TB-like infec; 25'c: branching hyphae, 37'C: large round yeasts with single broad-based bud)
what form is aspergillus in?
MOLD only (acute branching)
morphology of candida albicans
budding yeast, pseudohyphae at 20'c, germ tube formation at 37'c
candida infections (4)
THRUSH in I/C (AIDS, neonates, oral steroids, diabetes); ENDOCARDITIS (ivdu); VAGINITIS (post abx); DIAPER RASH
two fungi that only exist in mold form
Aspergillus (acute angle hyphae); Mucur/Rhizopus (wide angle hyphae)
two fungi that only exist in yeast form
CANDIDA (pseudohyphae); CRYPTOCOCCUS (encapsulated, stains w/ india ink, narrow-based-budding)
symptoms of dermatomyositis
AI disorder --> proximal muscle weakness, SKIN: purple upper eyelids and raised, purple, scaling eruption of knuckles (Grotton's sign)
baker's cysts
benign popliteal cyst, suggestive of arthritis / cartilage damage (joint disease)
"housemaid's knee"
prepatellar bursitis from repeated kneeling; causes knee pain, swelling, redness, and dec ROM
what does HBV genome look like?
partially double-stranded circular DNA molecule; replication via reverse transcriptase
which virus acquires envelope by budding through nuclear membrane?
herpes viruses
primary modes of HCV infection
IVDU, blood transfusions; (sexual xmission less common than with HBV)
d&c reveals "bunch of grapes"
hydatidiform mole
presentation and tx of cyanide toxicity
presents with altered mental status and lactic acidosis; TX with amylnitrates (increases methemoglobin levels), followed by sodium thiosulfate (forms thiocynate which can be excreated in urine)
result of giving glucose to thiamine deficient pt (eg alcoholic)
increased thiamine demand (PDH and aKDH) ==> wernicke encephalopathy (acute confusion, ophthalmoplegia, ataxia)
pyrophosphate analog, doesn't need intracell activation; directly inhibits both DNA polymerase (herpes) and reverese transcriptase (HIV)
common ending for protease inhibitors
mechanism of amantadine
binds/inhibits M2 ion channel protein of Influenza A viruses --> blocks viral uncoating after endocytosis
mechanism of acyclovir / gancyclovir / foscarnet
inhibit herpes DNA polymerase
what gout drugs contraindicated in acoute gouty arthritis, and why?
probenecid and allopurinol -- may actually PRECIPITATE acute attack
prostaglandins in pregnancy (pharmaceutical)
cause uterine contraction, cervical dilatation ==> abortifacient adjunct to mifepristone; (eg misoprostol)
primary vs secondary TB
PRIMARY: GHON COMPLEX (lower lobe lesion [ghon focus] + ipsliateral hilar adenopathy); SECONDARY: apical cavitary lesion
three clinical presentations of glucagonoma
1) DM; 2) necrolytic erythema (erythematous blisters across abdomnen/groin); 3) anemia
presentation of somatostatinoma
CCK inhibition: gallstones, abd pain, steatorrhea; GI MOTILITY inhibition: constipation
morphology of lacunar brain lesions
cystic, cavitary spaces called "lacunas" -- lake-like
location of: pure motor hemiparesis vs pure sensory stroke
MOTOR: internal capsule; SENSORY: ventrolateral thalamus (VPL/VML)
malignant hypertension
characterized by HYPERPLASTIC ARTERIOSCLEROSIS (resulting from diastolic pressures > 120mmHg) -- onion-like concentric thickening of arteriolar walls; causes RAS --> vicious cycle; SYMPTOMS: retinal hemorrhages, headache, change in consciousness
transmural inflammation of arterial wall with fibrinoid necrosis
hyaline vs hyperplastic arteriosclerosis
HYALINE is caused by lower levels of essential hypertension, has homogenous deposition of hyaline material in intima/media of small vessels; HYPERPLASTIC: occurs in MALIGNANT hypertension; onion-like concentric thickening of arteriole wall, causes RAS --> more hypertension
glucagon mech of action
acts on GPCR --> inc cAMP --> inc Ca++; used in beta-blocker overdose (same mechanism, different receptor !!)
Abs seen in Wegener's
c-ANCA (anti-neutrophil cytoplasmic antiobodies)
smooth muscle cell antibodies
autoimmune hepatitis
AChEi used in myasthenia gravis
neostigmine, pyridostigmine; edrophonium for dx (very short acting)
AChEi used in atropine overdose
Physostigmine (crosses BBB --> CNS ==> also used for glaucoma, along w/ echothiophate)
presentation of crohn's vs uc
UC: bloody diarrhea, some abdominal discomfort; crohn's: abdominal PAIN (due to transmural inflammation), non-bloody diarrhea
how do eosinophils kill parasites?
parsite enters bloodstreem, bound by free IgE --> binds IgE Fc receptor on eosinophils --> major basic protein release (degranulation) --> ADCC
in which hypersensitivity ractions is complement activation important?
type II (cytotoxic) and Type III (immune complex)
ras protein
part of MAP kinase system, a/w tyrosine kinase receptors
signal transduction a/w tyrosine kinase receptors
role of nucleolus
synthesis of rRNA
pathogenesis of contact dermatitis
haptens --> skin --> langerhans cells --> lmph nodes --> Th1 cells --> inflammatory cytokines (type IV hypersensitivity)
Ataxia telangiectasia mechanism
AR, mutation of ATM gene (Ataxia Telangictasia Mutated) -- responsible for DNA break repair ==> hypersensitive to X-ray radiation (caues multiple chromosomal breaks)
immune defiiency in Ataxia-telangiectasia + clinical presentation
IgA deficiency --> upper/lower airway infection
multiple phenotypic manifestations of a single geneteic mutation ==> seen in most syndromic genetic illnesses
low levels of C1 esterase inhibitor
hereditary angioedema -- AD condition; angioedema of face,neck,lips,tongue, tracheobronchial tree, GI
side efffects of methotrexate
hepatitis, pulm fibrosis, bone marrow suppression
triad of sx in chediak-higashi syndrome
AR: immunodeficiency (defect in neutrophil phagolysosome fusion --> giant lysosomal inclusions); albinism (abnormal melanin storage in melanocytes); neurologic defects (nystagmus, peripheral and cranial neuropathies)
wiscott-aldrich vs SCID
both have combined T and B-cell deficiency (==> fungal and bacterial infections); W-A alos a/w WIPE (thrombocytopenic purpura, eczema), and only IgM is low
damage in crhonic graft rejection
usu vascular endothelial damage -- obliterative intimal smooth muscle hypertrophy and fibrosis (happens in lungs, kidneys, ...)
acute vs hyperacute graft rejection morphology
hyperacute: preformed Abs --> complement fixation on endothelial surfaces --> thrombosis, rapid infarction; acute: w/in 10 days or months-yrs (if immunosuppression stopped), predominantly CD*+ CTL attack on tgraft cells --> mononuclear interstitial infiltrate
production of 2,3-BPG
happens in RBCs to enable O2 delivery in low blood oxygen conditions; reaction is part ofglycolysis, consumes energy that would have otherwise been generated
insulin signaling pathway
insulin --> tyrosine kinase receptor --> phsphrylatin of "insulin receptor substrate" --> activation of protein PHOSPHATASE --> dephosphorylates glycogen synthase --> activation --> glycogen synthesis
what enzyme responsible for galactose --> galactitol?
aldose reductase
causes of PKU (2)
deficiency of: 1) phenylalanine hydroxylase; 2) tetrahydrobiopterin cofactor (also needed for tryptophan --> serotonin)
tetrahydrobiopterin (Bh4)
cofactor in synthesis of tyrosine, dopa, serotonin, and nitric oxide
long term consequence of alkaptonuria
arthritis in adult life + pigment deposition in cartilage thruout ody (sclera, ear cartilage) this deposition also eventually causes joint problems
defect in most CF
delta F508 -- impaired post-translational processing of CFTR
short stature, hypotonia, and obesity: genetic defect
prader-willi (microdeletion on chromsome 15 iherited from father)
5' to 3' exonuclease
DNA pol 1 -- removes RNA primer (unlike 3' - 5' exonuclease used by DNA pol III as to proofread as it goes)
what enzyme deficiencies can lead to poor RBC survival
1) GLYCOLYTIC (pyruvate kinase, hexokinase -- dec ATP --> stiffened RBC membrane --> hemolysis); 2) NADPH (G6PD, glutathione reductase ==> both needed for generation of reduced glutathione which protects RBC from oxidative damage [neutralizeds H2O2 --> H2O])
promoter vs enhancer vs operator
PROMOTER and ENHANCER both bind transcription factors; PROMOTER binds RNA pol, UPSTREAM of gene locus, responsible for INITIATING transcription, so mutations in promoter result in dramatically decreased gene product; ENHANCER can be located anywhere (incl intron); OPERATOR binds NEGATIVE regulators
testicular changes in klinefelters (XXY)
hypogonadism b/c of progressive damage to seminiferous tubules --> low testosterone, low inhibin --> elevated FSH/LH
what cells involved in {hyperacute, acute, chronic} graft rejection?
HYPERACUTE: preformed Abs against graft ABO Ags; ACUTE: host Tcells against graft MHC; CHRONIC: Host B and T cells against graft MHC + other Ags
which Ig against Giardia? Which immunodeficiencies?
IgA; X-linked agammaglobulinemia / CVID ==> predipsoed to giardiasis
consequences of selective IgA deficiency
usu ASx; can cause recurrent otitis media, sinusitis, bronchitis, or pneumonias by encapsulated bacteria; GI infections (eg giardia); can develop fatal anaphylactic reactions to small amts of IgA transfused with blood
what determines fate of pyruvate after glycolysis (lactic acid or Acetyl Co-A?)
presence of oxygen -- if O2 present, becomes acetyl CoA; if not, becomes lactic acid
thiamine is a cofactor for which 3 enzymes?
pyruvate dehydrogenase, alpha-ketogluterate dehydrogenase, and transketolase (HMP Shunt)
antiphospholipid antibody (APLA) syndrome
present in many SLE pts with false-positive VDRL test; characterized by at least one of: 1) venous thromboembolism; 2) arterial thromboembolism; 3) increased fetal loss; LABS: see paradoxically elevated PTT (artifact)
where is heme synthesized and why?
85% in BM -- RBCs; 15% in liver -- P450 usage; P450 inducers (alcohol, griseofulvin, phenobarbital, phenytoin) decrease hepatic heme by inducing P450
Porphyria: enzyme defects early vs late in the pathway
EARLY (eg AIP): neuro abnormalities w/o photosensitivity; LATE (eg porphyria cutanea tarda): photosensitivity (light --> porphyrin --> free radical skin damage)
Sx of porphyria
5Ps: Pink urine, Painful abdomen, Polyneuropathy, Psych disturbances, Precipitated by drugs
hartnup dz vs fanconi syndrome
both involve loss of AA in urine due to impaired reabsorption; in HARTNUP, faulty transporter prevents reabsorption of neutral aminoacids, but proline, hydroxyproline, and arginine are unaffected; in FANCONI syndrome, proximal tubular reabsorption (generally) is impaired